P13569
PR
Gene name |
CFTR (ABCC7) |
Protein name |
Cystic fibrosis transmembrane conductance regulator |
Names |
CFTR, ATP-binding cassette sub-family C member 7, Channel conductance-controlling ATPase, cAMP-dependent chloride channel |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1080 |
EC number |
5.6.1.6: Enzymes altering polypeptide conformation or assembly |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
50 structures for P13569
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1XMI | X-ray | 225 A | A/B/C/D/E | 389-678 | PDB |
| 1XMJ | X-ray | 230 A | A | 389-677 | PDB |
| 2BBO | X-ray | 255 A | A | 389-678 | PDB |
| 2BBS | X-ray | 205 A | A/B | 389-677 | PDB |
| 2BBT | X-ray | 230 A | A/B | 389-678 | PDB |
| 2LOB | NMR | - | B | 1473-1480 | PDB |
| 2PZE | X-ray | 170 A | A/B | 387-646 | PDB |
| 2PZF | X-ray | 200 A | A/B | 387-646 | PDB |
| 2PZG | X-ray | 180 A | A/B | 375-646 | PDB |
| 3GD7 | X-ray | 270 A | A/B/C/D | 1193-1427 | PDB |
| 3ISW | X-ray | 280 A | C | 5-20 | PDB |
| 4WZ6 | X-ray | 205 A | A | 389-678 | PDB |
| 5D2D | X-ray | 210 A | C | 747-774 | PDB |
| 5D3E | X-ray | 275 A | C/G/K | 762-801 | PDB |
| 5D3F | X-ray | 274 A | C | 747-774 | PDB |
| 5TF7 | X-ray | 193 A | A | 387-646 | PDB |
| 5TF8 | X-ray | 186 A | A | 387-646 | PDB |
| 5TFA | X-ray | 187 A | A | 387-646 | PDB |
| 5TFB | X-ray | 187 A | A | 387-646 | PDB |
| 5TFC | X-ray | 192 A | A | 387-646 | PDB |
| 5TFD | X-ray | 189 A | A | 387-646 | PDB |
| 5TFF | X-ray | 189 A | A | 387-646 | PDB |
| 5TFG | X-ray | 191 A | A | 387-646 | PDB |
| 5TFI | X-ray | 189 A | A | 387-646 | PDB |
| 5TFJ | X-ray | 185 A | A | 387-646 | PDB |
| 5TGK | X-ray | 191 A | A | 387-646 | PDB |
| 5UAK | EM | 387 A | A | 1-1480 | PDB |
| 6GJQ | X-ray | 249 A | A/C/E/G | 387-646 | PDB |
| 6GJS | X-ray | 195 A | A | 387-646 | PDB |
| 6GJU | X-ray | 260 A | A | 387-646 | PDB |
| 6GK4 | X-ray | 291 A | A/D | 387-646 | PDB |
| 6GKD | X-ray | 299 A | A/F/I/L/O/R | 387-646 | PDB |
| 6HEP | X-ray | 186 A | E/F | 747-774 | PDB |
| 6MSM | EM | 320 A | A | 1-1480 | PDB |
| 6O1V | EM | 320 A | A | 1-1480 | PDB |
| 6O2P | EM | 330 A | A | 1-1480 | PDB |
| 6UK1 | X-ray | 269 A | A/B/C/D | 1202-1430 | PDB |
| 6WBS | X-ray | 186 A | A/B | 388-646 | PDB |
| 6ZE1 | X-ray | 271 A | A | 387-646 | PDB |
| 7QI1 | X-ray | 176 A | E/F | 747-774 | PDB |
| 7SV7 | EM | 380 A | A | 1-1480 | PDB |
| 7SVD | EM | 270 A | A | 1-1480 | PDB |
| 7SVR | EM | 390 A | A | 1-1480 | PDB |
| 8EIG | EM | 360 A | A | 1-1480 | PDB |
| 8EIO | EM | 280 A | A | 1-1480 | PDB |
| 8EIQ | EM | 300 A | A | 1-1480 | PDB |
| 8EJ1 | EM | 690 A | A | 1-1480 | PDB |
| 8FZQ | EM | 430 A | A | 1-1480 | PDB |
| 8UBR | EM | 270 A | A | 1-1480 | PDB |
| AF-P13569-F1 | Predicted | AlphaFoldDB |
2512 variants for P13569
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs397508136 RCV000046190 |
1 | M>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508657 RCV000577343 RCV000757844 |
1 | M>I | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577491 rs397508476 |
1 | M>K | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508476 RCV000757833 |
1 | M>R | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477157 RCV001826652 RCV002262607 rs397508476 RCV000046751 |
1 | M>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000056356 rs397508328 RCV000755921 RCV001826627 |
1 | M>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562876396 RCV000757818 |
2 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001775206 CA327541 RCV000576848 rs397508740 |
2 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001269232 RCV001830073 RCV002284478 rs1797976959 |
2 | Q>P | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001158546 RCV002375044 CA164948889 rs1052894635 |
3 | R>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397508173 RCV000046255 RCV000780154 CA326431 RCV001027911 |
4 | S>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004225 CA325691 RCV000727666 RCV000029477 RCV002284179 rs193922501 |
5 | P>L | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000674389 CA368981186 rs1554373095 |
6 | L>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007657 CA325613 rs121909045 RCV000278439 |
7 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1204115625 RCV001158547 CA368981215 |
8 | K>R | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001009447 rs1584764596 |
9 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001825489 CA164948916 rs949472192 RCV001855866 RCV000755917 |
9 | A>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003114634 CA164948918 rs762241850 RCV000507945 RCV000696094 RCV001158548 |
10 | S>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001002302 RCV002255467 RCV000630460 CA4450601 RCV001508582 RCV002491166 rs1800072 |
11 | V>I | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001004226 rs397508635 RCV000759040 VAR_000101 CA327334 RCV000577001 |
13 | S>F | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000577255 rs397508710 |
14 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009425 rs397508673 CA327398 |
14 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001200894 CA368981296 RCV001002549 RCV000586965 rs397508673 RCV001834849 |
14 | K>E | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001811089 rs772774651 RCV001834850 RCV000819753 RCV002483567 RCV000588867 CA164948959 |
14 | K>I | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000577183 rs397508715 |
15 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001000710 CA368981338 RCV000785636 rs1562876459 |
15 | L>P | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000047175 RCV001831794 RCV001093483 rs397508714 |
17 | F>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757847 rs1317756653 RCV000757087 |
17 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001826686 RCV000577158 RCV003137586 rs397508714 |
18 | S>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000733082 RCV000047170 rs397508714 |
19 | W>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508762 RCV000576462 CA368986807 RCV001283974 RCV001829608 |
19 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16041124 RCV000411729 rs1057516232 |
19 | W>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000577168 rs397508762 CA327582 |
19 | W>C | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044682 CA4450629 rs777520137 |
21 | R>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001278576 rs1798377413 |
23 | I>V | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828955 RCV002480798 rs1056986309 RCV002480799 RCV001240548 CA164963557 |
24 | L>V | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001830534 CA4450631 rs759726535 RCV000698034 RCV001527046 |
26 | K>E | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508798 RCV000577249 |
27 | G>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831803 RCV000047257 rs397508796 CA327656 |
27 | G>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000577538 rs397508797 CA327658 |
27 | G>E | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577762 rs397508796 CA327655 CA327653 |
27 | G>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
CA327685 rs397508815 RCV001826701 RCV000577040 |
30 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001801914 RCV000515170 RCV001161749 VAR_000102 rs1800073 RCV000029548 RCV000251973 CA325716 RCV000723380 |
31 | R>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002477501 RCV001580534 RCV001830447 RCV001731874 rs149353983 CA4450633 RCV000670527 |
31 | R>H | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002281740 RCV000581319 VAR_000103 RCV002257391 RCV000733631 rs149353983 CA327694 RCV000577473 RCV002490617 |
31 | R>L | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA4450635 RCV000670047 rs776797377 RCV000598321 |
32 | L>M | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508141 RCV000577512 |
34 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576973 rs397508149 |
36 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4450636 RCV000732401 rs759721412 RCV001855683 |
37 | I>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577293 rs397508162 |
38 | Y>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922498 CA260211 RCV000029470 |
38 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000781224 CA345303 rs397508168 RCV001831718 RCV000056342 |
39 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040237 RCV001827430 RCV001066717 rs764522674 CA4450640 RCV001732021 |
39 | Q>H | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
RCV002482908 RCV001161750 RCV000586035 RCV001268981 rs143456784 VAR_000104 CA325688 RCV000029472 |
42 | S>F | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246599 RCV002497321 CA4450642 RCV001161751 RCV001002488 rs370586917 |
43 | V>I | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1800074 VAR_000105 CA326451 RCV000577104 |
44 | D>G | Cystic fibrosis CF; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
RCV001828606 rs1798380222 RCV001194369 |
45 | S>C | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326462 rs151020603 RCV000046286 |
46 | A>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA368987369 RCV002319140 rs1584774381 |
46 | A>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001592932 rs151020603 RCV000728272 RCV000780112 CA4450646 RCV000757789 |
46 | A>V | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1562882755 RCV000757824 |
50 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508217 RCV000046319 CA326503 |
50 | S>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326509 RCV001194310 rs397508220 VAR_000107 RCV001831729 RCV002490610 RCV000577356 |
50 | S>Y | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders CBAVD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001831732 RCV000577088 RCV001284130 rs397508269 |
56 | E>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757827 CA368972106 rs397508256 |
56 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000664513 CA368972108 rs1554376387 |
56 | E>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009396 CA326588 rs397508256 RCV001004228 RCV000046399 RCV000660826 |
56 | E>K | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000007599 RCV001826440 rs121909025 CA325570 |
57 | W>* | Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs397508279 CA326628 RCV001009511 RCV001826623 RCV000046437 |
57 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326617 rs397508272 RCV000577563 VAR_000108 RCV003114230 |
57 | W>G | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001269511 rs397508272 CA326615 RCV000577294 |
57 | W>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000781245 RCV001826624 rs397508295 RCV000576840 |
58 | D>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576997 rs397508291 CA326647 |
58 | D>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508285 RCV000577317 CA326636 |
58 | D>N | Variant assessed as Somatic; impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs397508294 RCV001834826 RCV000046458 |
59 | R>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1584776308 RCV001004230 |
60 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs77284892 RCV001004229 RCV001528716 RCV000056355 CA328091 RCV001826532 RCV000763147 |
60 | E>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs569426839 RCV000731390 CA4450665 RCV002406667 |
60 | E>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs77284892 CA326672 RCV000577024 |
60 | E>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs77284892 RCV002319174 CA368972126 |
60 | E>Q | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002509590 rs1584776330 RCV001305664 RCV001832336 CA368972137 |
62 | A>P | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612011 rs1060503163 RCV000475372 |
66 | N>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA345310 VAR_000109 RCV002247433 RCV001826628 RCV000724153 RCV002496711 rs368505753 RCV000660821 RCV001004231 RCV000056357 |
67 | P>L | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577254 RCV000586819 rs397508332 CA326732 |
68 | K>E | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000985682 RCV000671825 CA326737 rs397508335 RCV001804779 |
68 | K>N | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA164936980 rs372421038 RCV001250527 |
69 | L>I | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA164936983 RCV001824938 RCV001833924 rs1003610229 RCV001222064 |
71 | N>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214837 rs397508348 |
73 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000589418 rs142540482 CA243179 RCV001161752 RCV000046556 RCV000177074 |
74 | R>Q | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002256094 RCV000177071 RCV001255580 rs115545701 VAR_000110 RCV000224532 RCV000660770 RCV000479747 CA275167 |
74 | R>W | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CF and CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA328098 RCV001831710 RCV001004232 rs121908749 RCV001284476 RCV000056362 |
75 | R>* | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001194311 rs1800076 CA326776 RCV002260972 RCV000577381 |
75 | R>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000111 RCV000513754 RCV000116686 rs1800076 RCV001249413 CA152327 RCV000119039 RCV000582582 RCV001095213 RCV000029494 |
75 | R>Q | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001050257 RCV001827189 CA4450670 rs777536750 |
76 | C>W | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001009468 rs397508360 |
78 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445403 RCV001161753 rs1181846000 CA368972228 |
78 | F>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001826634 RCV000046577 rs397508360 RCV000508526 |
79 | W>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001192431 rs1189377616 RCV001833737 |
79 | W>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326804 rs397508371 RCV000577054 |
79 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562884046 RCV000757830 |
81 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830401 rs1798471062 RCV001338348 |
81 | F>Y | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702476 rs1159096947 CA368972263 |
82 | M>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000673216 RCV001829880 rs1554376431 CA368972258 |
82 | M>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4450673 RCV001785674 RCV001824838 rs745756794 RCV000596402 |
84 | Y>H | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004233 RCV002549236 CA368972280 rs1584776437 |
85 | G>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831534 RCV001004234 CA340647 RCV000007563 rs75961395 RCV002490334 RCV000224170 VAR_000112 |
85 | G>E | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA326843 rs75961395 RCV000577243 |
85 | G>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000705576 CA4450675 rs749432776 RCV001830560 |
86 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326856 rs397508403 RCV000577551 |
87 | F>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_000113 rs397508403 CA326858 RCV000577256 |
87 | F>L | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001216825 RCV001833884 rs1310658028 RCV001812256 CA368972290 |
87 | F>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs121908769 RCV001004235 RCV000007654 RCV001269534 RCV002496302 RCV000506648 RCV001835625 |
88 | L>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835659 rs397508412 RCV001826643 RCV002281549 RCV000781278 CA326872 CA326876 RCV000576641 RCV000046644 |
88 | L>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4450676 RCV001234763 RCV001530071 rs149662778 RCV001834032 |
88 | L>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577561 CA326874 rs397508412 |
88 | L>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326884 RCV002281736 rs397508418 RCV001811322 RCV000577135 RCV001826645 |
89 | Y>C | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001264350 rs397508421 |
90 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326892 RCV000577443 rs397508421 |
90 | L>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007603 RCV001831546 CA325573 VAR_000114 rs121908750 |
91 | G>R | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs121908751 RCV001004423 RCV000007606 CA325576 RCV001009515 RCV001826443 |
92 | E>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001277174 CA326921 rs397508432 RCV000781282 |
92 | E>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121908751 RCV001831545 CA325572 RCV000007601 RCV001093484 VAR_000115 RCV001009395 |
92 | E>K | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA326952 rs397508449 RCV000577108 |
96 | A>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000670404 CA368974244 rs1235363099 |
97 | V>A | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA345317 RCV000056375 RCV001831761 rs397508461 RCV000781254 |
98 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA326983 RCV000577614 rs397508464 |
98 | Q>P | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004424 RCV000588283 rs397508464 RCV000505966 CA326985 RCV001831762 VAR_000116 RCV000763149 |
98 | Q>R | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001871664 RCV001830079 CA164943588 rs1031657153 RCV001812286 |
99 | P>A | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000577122 CA326991 rs397508467 RCV001009535 |
99 | P>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA327020 RCV000577461 rs397508484 |
101 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001831768 RCV000576952 rs397508486 RCV000781238 |
102 | L>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327031 RCV000577371 rs397508490 |
102 | L>P | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4450702 RCV001174826 RCV000669903 rs397508490 |
102 | L>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1584784895 RCV002372735 CA368974299 |
103 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001284615 RCV000046784 RCV001835663 rs397508499 |
104 | R>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000046792 rs121908801 RCV001004425 RCV001027892 RCV000759763 |
105 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001382997 RCV001826657 rs397508509 CA327065 |
105 | I>N | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_000117 | 105 | I>S | CF [UniProt] | Yes | UniProt |
|
RCV001004426 rs397508516 RCV000577823 |
106 | I>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000597628 RCV001559231 CA164943625 rs1024092547 |
106 | I>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1562889219 RCV000757869 CA368974367 |
107 | A>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508526 RCV002002562 |
108 | S>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009379 rs397508520 CA327108 RCV000577153 |
108 | S>F | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121908798 RCV000056378 |
109 | Y>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577345 rs397508528 CA327123 |
109 | Y>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA325582 rs121909031 VAR_000118 RCV000007618 |
109 | Y>C | Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) CF [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000757788 rs397508522 CA368974380 |
109 | Y>H | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA327114 RCV000672235 rs397508522 |
109 | Y>N | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000576925 rs397508530 |
110 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660830 RCV000577359 RCV001009539 rs397508537 RCV000596840 RCV001831773 CA327140 |
110 | D>E | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001009392 RCV000058930 VAR_000119 RCV002247259 rs113993958 CA284835 RCV000780153 RCV000660769 RCV001004427 RCV000007527 RCV001835624 |
110 | D>H | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF and CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA368974385 rs113993958 RCV000668886 |
110 | D>N | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000508454 CA327127 rs113993958 RCV001705706 |
110 | D>Y | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA327145 rs397508541 RCV000577688 RCV001009499 |
111 | P>A | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327149 RCV000590642 RCV000046868 RCV001009500 rs140502196 RCV002251952 VAR_000120 RCV001844026 |
111 | P>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001811583 rs770241677 RCV001827151 CA4450708 RCV001246603 |
112 | D>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508571 RCV000755922 COSM1548066 CA327204 RCV000577691 RCV002281553 |
116 | E>K | lung skin Cystic fibrosis Cystic fibrosis (cf) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs397508563 RCV000577636 |
116 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009394 CA328115 RCV001826603 RCV000056382 RCV001004428 VAR_000121 rs77834169 RCV000727627 RCV000763150 |
117 | R>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000506019 RCV001811327 CA327217 RCV000670642 rs77834169 RCV002281554 |
117 | R>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001642199 rs78655421 RCV000763151 RCV000826137 RCV000417156 RCV000007528 RCV001762036 RCV000078997 RCV001009478 CA221026 RCV000007529 RCV000190992 VAR_000122 |
117 | R>H | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF and CBAVD; strong decrease in single channel conductance; promotes rapid return to the closed state of the channel; decrease in bicarbonate transport [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000123 rs78655421 RCV000577295 CA327222 RCV000985692 |
117 | R>L | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577567 RCV001563129 rs78655421 VAR_000124 CA327221 COSM1447496 |
117 | R>P | large_intestine Cystic fibrosis Cystic fibrosis (cf) CF [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001161755 RCV000770760 CA260237 RCV000029525 RCV000498090 rs193922518 |
119 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001731339 RCV001327956 CA327235 RCV000577110 RCV000587814 VAR_000125 rs201958172 |
120 | A>T | Variant assessed as Somatic; 0.0 impact. Infertility Cystic fibrosis CF [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000630454 RCV001834983 rs1265244783 CA368974481 |
120 | A>V | Variant assessed as Somatic; impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs79660178 RCV001831622 RCV001529907 CA328118 RCV000056385 |
122 | Y>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002489073 rs377295859 RCV001001893 CA4450714 RCV000471538 |
122 | Y>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA327249 RCV000577490 COSM1673482 rs397508592 |
122 | Y>H | large_intestine Cystic fibrosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001317984 rs397508592 RCV001835583 |
122 | Y>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA260239 rs193922519 RCV000029528 |
124 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA327274 RCV000595646 RCV001081823 RCV001163272 rs141723617 RCV001509309 |
125 | I>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397508609 CA327290 RCV002228161 RCV000577044 RCV001004429 RCV002281556 |
126 | G>D | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397508606 CA327284 RCV000577162 RCV001580452 RCV002281737 |
126 | G>S | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002535328 rs397508609 RCV000733386 CA368974528 |
126 | G>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA327296 RCV000577580 rs397508611 |
127 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000029532 rs193922521 |
127 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508627 RCV000577759 |
130 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002261343 RCV001800983 rs1798853976 RCV001331275 |
130 | L>P | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327329 rs397508632 RCV001308205 RCV002477158 RCV001831782 |
130 | L>V | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000576979 rs397508647 |
131 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368974649 RCV000802899 rs1584785049 |
134 | R>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554379846 RCV000667127 |
136 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1798854681 RCV001047415 |
136 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1798854681 RCV001331277 |
136 | L>R | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000047072 RCV001826679 rs397508672 |
137 | L>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577216 rs397508671 |
137 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009424 rs1584785072 |
137 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002284576 rs397508679 |
137 | L>H | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508674 CA327400 RCV000577586 |
137 | L>H | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508674 CA164943766 RCV000706337 |
137 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001509310 rs397508686 RCV000577362 |
138 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1800078 RCV001052278 RCV001832481 CA164943773 VAR_009895 |
138 | L>P | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA327435 RCV000985694 RCV000577674 rs76371115 |
139 | H>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002491176 rs76371115 RCV000625939 CA368974738 RCV000591043 |
139 | H>P | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_000126 CA327434 RCV000577519 rs76371115 |
139 | H>R | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
COSM1548065 RCV001325710 rs397508694 CA327444 |
140 | P>L | lung Cystic fibrosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001272206 RCV000506712 rs145900055 CA327438 RCV002257390 RCV000590469 RCV001163274 RCV000765922 |
140 | P>S | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_000127 RCV000577350 rs397508700 CA327458 |
141 | A>D | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001826434 rs387906363 RCV000007566 |
142 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689946 rs1562889369 RCV001829909 CA368974760 |
142 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831536 RCV000007567 rs387906364 |
143 | F>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757817 rs1562889382 |
145 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310595 rs759310470 RCV001241142 CA4450721 RCV001828969 |
147 | H>Q | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001826687 RCV000056392 RCV000727641 rs121908770 |
148 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001004430 RCV000593590 RCV000576960 CA327489 rs35516286 |
148 | I>N | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA146708 RCV001705619 VAR_000128 RCV000079009 RCV001095251 RCV000047138 rs35516286 |
148 | I>T | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; unknown pathological significance; loss of bicarbonate transport; decreased inhibition of epithelial sodium channel (ENaC), when tested in a heterologous system; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508718 RCV000670963 CA368974916 |
149 | G>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508718 RCV000577096 VAR_000129 CA327493 |
149 | G>R | Cystic fibrosis Cystic fibrosis (cf) CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002284450 rs1562889397 RCV000985695 CA368974943 |
150 | M>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562889397 RCV000757873 CA368974947 |
150 | M>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327498 rs397508720 RCV000577704 |
151 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327496 RCV000734737 RCV000781280 RCV001163275 rs397508720 RCV000047142 |
151 | Q>K | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA368974984 CA368974982 rs1403470018 RCV000790436 |
152 | M>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000507634 CA4450724 RCV001865656 RCV001834634 rs397508721 |
152 | M>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327502 RCV000577415 rs397508722 |
152 | M>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577102 rs397508721 CA327500 |
152 | M>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs387906371 RCV000007608 |
155 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554379882 RCV000507256 RCV001785647 CA368975035 |
155 | A>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327504 RCV000577728 rs397508723 |
155 | A>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1554379887 RCV000576514 |
156 | M>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757874 RCV001835951 rs397508725 RCV000781275 CA4450730 |
158 | S>N | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002496715 RCV000577008 rs397508725 RCV001509311 RCV001826688 CA327508 RCV001194312 |
158 | S>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001811331 RCV001852983 CA327513 RCV001831792 rs397508727 RCV000496886 |
159 | L>S | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA327523 rs397508730 RCV000577416 |
161 | Y>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000577278 CA327519 rs397508729 |
161 | Y>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327517 rs397508729 RCV000577230 |
161 | Y>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1584785196 RCV000822777 |
162 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757854 CA327525 rs397508731 RCV001532116 |
162 | K>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1554379899 RCV000590773 |
163 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064386 rs1798858347 |
163 | K>E | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757875 rs1562889435 CA368975234 |
163 | K>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508737 RCV000577076 |
164 | T>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200885306 RCV000780137 RCV001509312 RCV001163277 CA4450745 RCV002477783 RCV000802964 |
164 | T>A | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001826690 rs397508736 CA327535 RCV000576939 |
165 | L>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327538 RCV000577392 rs397508738 |
166 | K>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000576970 CA327543 rs397508741 |
167 | L>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757876 rs869249241 CA164944876 |
168 | S>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554380311 RCV000668461 |
169 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000673734 rs1554380309 CA368976364 |
169 | S>G | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs578029902 RCV002481755 CA4450746 RCV000526413 RCV000590353 RCV001829535 |
170 | R>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1800079 CA275301 RCV000178781 RCV000047174 VAR_009896 RCV001009504 RCV000724146 RCV001802207 |
170 | R>H | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001244366 CA4450749 rs745468219 RCV001836229 |
171 | V>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4450750 RCV001002026 RCV001272228 rs769606990 |
172 | L>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577145 rs397508743 |
175 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508744 CA327547 RCV000577574 |
175 | I>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001004434 rs121908771 RCV000056393 RCV001826692 RCV003114234 |
177 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327552 RCV000673352 rs397508747 |
177 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121908771 RCV000589412 RCV001829626 |
178 | G>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508748 RCV000668392 CA327554 |
178 | G>E | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000056394 VAR_000130 RCV001831713 RCV000508034 RCV000763153 RCV001004435 CA328125 rs80282562 RCV002247425 RCV000211246 |
178 | G>R | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001826693 RCV002490615 RCV001731342 rs367850319 CA327556 RCV000590474 RCV000577726 |
179 | Q>K | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4450754 RCV001174716 RCV001239913 rs374163420 RCV001828585 |
180 | L>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1584786454 RCV000855423 |
182 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000047188 rs397508750 RCV001826694 |
183 | L>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327561 RCV000781269 rs397508751 RCV001795042 RCV000577598 |
183 | L>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000576972 rs397508752 |
184 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1798913255 RCV001175244 |
184 | L>R | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1798913314 RCV001812505 RCV001830085 RCV003166618 |
185 | S>Y | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193645 rs397508753 CA368976532 RCV000675021 CA327566 |
186 | N>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757848 rs1562890223 |
187 | N>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576994 rs397508754 CA327568 |
187 | N>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs766640075 RCV000666068 CA4450756 |
188 | L>P | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000577311 rs397508755 CA327570 |
189 | N>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4450757 RCV002281577 RCV000587145 RCV001002123 rs141482808 RCV001004436 RCV000757856 RCV002232555 |
191 | F>V | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA327576 rs397508758 RCV000577568 |
192 | D>G | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577146 CA327572 rs397508756 |
192 | D>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001257125 rs397508758 RCV000781293 CA368976609 |
192 | D>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_000131 | 192 | D>del | CF [UniProt] | Yes | UniProt |
|
RCV000506873 rs397508759 RCV001831795 RCV000047199 CA221033 RCV000763154 |
193 | E>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000660831 VAR_000132 CA327578 rs397508759 RCV000577109 |
193 | E>K | Cystic fibrosis Cystic fibrosis (cf) CBAVD and CF; decrease in bicarbonate transport; no effect on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA327585 RCV001002323 RCV001009497 rs397508763 RCV001250516 RCV000729929 |
194 | G>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001009510 RCV001250523 rs1584786892 |
196 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368976723 rs1204822296 RCV001068175 |
196 | A>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000392617 RCV001306468 RCV001831797 CA327587 rs193922529 |
198 | A>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA260256 RCV000029542 RCV000593356 rs193922529 |
198 | A>T | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_000133 CA327591 rs397508765 RCV000577485 |
199 | H>Q | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA327589 rs397508764 RCV000577325 RCV001831799 |
199 | H>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121908802 RCV001004441 RCV000763155 RCV000056399 RCV000755925 CA328129 RCV001831798 VAR_000134 |
199 | H>Y | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001705707 rs397508766 RCV000507508 CA327592 RCV001009495 |
200 | F>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000850153 rs397508766 CA368976764 |
200 | F>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001831800 RCV001009409 rs397508767 |
201 | V>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027904 CA327594 RCV000666392 RCV000381189 RCV000725285 rs138338446 |
201 | V>M | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508768 CA327597 RCV000577170 |
202 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1800081 RCV000577483 CA327599 |
203 | I>M | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001272229 CA368976813 RCV000586216 rs748026786 |
204 | A>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4450783 rs748026786 RCV000671202 |
204 | A>T | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397508769 CA327601 RCV002004711 |
205 | P>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA328130 RCV000056400 rs121908803 COSM137489 RCV001004442 RCV001835667 VAR_000135 RCV000724656 |
205 | P>S | Variant assessed as Somatic; 0.0 impact. skin Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [NCI-TCGA, Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
CA368976821 rs121908803 RCV000706499 |
205 | P>T | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000576987 CA327603 rs397508770 |
206 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA221035 RCV001831547 rs121908752 RCV000763156 RCV000660772 RCV001009388 RCV001004443 VAR_000136 RCV000079011 RCV000007611 |
206 | L>W | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF and CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001272230 rs397508771 CA327605 |
207 | Q>* | Variant assessed as Somatic; impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs397508772 RCV000577647 RCV001835668 RCV001193675 CA327607 |
209 | A>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs540269075 CA4450788 RCV000707376 RCV002261197 |
212 | M>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000780120 rs775701644 RCV000765923 RCV000469964 RCV001509314 CA4450789 |
213 | G>E | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4450791 rs188457893 RCV002476048 RCV002367724 RCV000518432 |
214 | L>V | Cystic fibrosis Hereditary pancreatitis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000577468 rs397508774 |
215 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780125 RCV001831801 CA327612 RCV000576668 rs397508775 |
216 | W>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000665877 rs397508776 RCV000733758 CA327614 |
216 | W>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001095295 rs121909046 CA254120 RCV000506350 RCV000007660 RCV000586415 |
217 | E>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577306 rs397508777 RCV001027905 CA327616 |
218 | L>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000674440 rs1554380465 |
220 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508778 CA328131 RCV001826695 RCV000056401 RCV000763566 RCV001004236 |
220 | Q>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_080302 | 220 | Q>del | CF [UniProt] | Yes | UniProt |
|
rs752432390 CA4450795 RCV001860128 RCV000588100 RCV001834852 |
221 | A>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009507 rs769693190 |
224 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577626 CA327621 rs397508781 |
225 | C>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_000137 CA327620 RCV000577637 rs397508780 |
225 | C>R | Cystic fibrosis CF; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002372706 rs866473559 CA164945642 RCV000985697 |
225 | C>Y | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA368977022 rs1562890588 RCV000757877 |
226 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001826696 CA327623 RCV000047234 rs397508782 |
227 | L>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000732693 RCV002228163 RCV001004237 rs397508783 CA327625 RCV000780160 RCV000047235 RCV002477162 VAR_080303 RCV001009386 |
232 | V>D | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002481326 CA4450802 rs775713428 RCV000435093 RCV001584120 RCV001007618 |
233 | L>V | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs769016520 RCV000757878 CA368977095 |
234 | A>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1299250440 RCV002284454 RCV001001202 |
237 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193074 RCV000577019 rs397508784 CA327627 RCV002281557 |
237 | Q>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001272231 CA327629 RCV000780162 rs397508785 |
237 | Q>H | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001828593 RCV001192461 rs1413926814 |
238 | A>P | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577031 rs397508787 |
239 | G>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554380497 RCV000576798 |
239 | G>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577623 CA327634 rs397508788 RCV000594254 RCV001826697 RCV001000072 |
239 | G>R | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508789 CA327636 RCV000577805 |
241 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213817 CA4450809 rs758012554 |
242 | R>K | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_000138 RCV000577714 CA327640 rs397508790 |
244 | M>K | Cystic fibrosis CBAVD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1800082 RCV000577020 RCV001264351 CA327641 |
247 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001833494 RCV000411442 rs1057517342 |
248 | R>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554380515 RCV001264352 |
248 | R>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368977225 RCV001002407 RCV001509315 rs1554380515 RCV000671274 |
248 | R>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002228164 CA327645 rs397508792 RCV000577458 |
248 | R>T | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1798959540 RCV001264353 |
251 | R>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1584787657 RCV001009417 |
252 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830565 RCV000706613 CA4450829 rs773790621 |
256 | S>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508794 RCV000577335 |
258 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002281738 CA327648 RCV000588144 RCV000047251 RCV000349995 VAR_000139 rs191456345 RCV000723753 |
258 | R>G | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs377514639 CA4450831 RCV001272232 RCV000781274 |
258 | R>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4450832 RCV001835224 RCV001245100 rs762640483 |
259 | L>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002409334 rs1390016549 RCV001832321 RCV001002079 CA368977385 |
260 | V>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001826698 RCV001811332 rs148519623 RCV001004238 RCV000671208 CA327651 |
265 | M>R | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs121908772 RCV000047258 RCV001831714 RCV000790728 |
268 | N>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908773 RCV000007627 |
269 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201016820 RCV001363603 RCV000728884 RCV001835940 RCV002282346 CA4450835 |
269 | I>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA368977456 rs1584787716 RCV001009418 |
270 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554380789 RCV000586650 |
271 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1296578005 RCV001264354 |
273 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554380796 RCV000665553 |
273 | K>N | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831612 rs193922532 RCV001004239 CA325712 RCV000029545 |
275 | Y>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397508799 RCV001826699 CA327661 RCV000047263 |
276 | C>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000149425 CA273036 rs672601317 |
277 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327663 rs397508800 RCV000577038 |
277 | W>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368977517 rs1199914684 RCV000670132 |
279 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000577328 rs397508801 |
279 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000595634 RCV002438542 CA4450839 rs773509355 |
279 | E>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002281739 rs397508802 RCV002483058 RCV001831804 CA327667 RCV000577667 |
281 | M>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA260260 RCV000796154 RCV001826516 RCV000726823 RCV000506367 rs142864834 |
282 | E>D | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786204693 RCV000169503 RCV000790771 RCV001027912 |
284 | M>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000598331 CA325714 RCV000029547 RCV002477014 rs151073129 RCV002257363 RCV002477015 |
285 | I>F | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508805 RCV001826700 RCV000780132 RCV000047272 |
287 | N>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007658 rs387906380 |
287 | N>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577467 rs112162204 CA327670 RCV002483059 RCV000594718 RCV001831805 RCV002469001 |
287 | N>K | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000577376 CA327669 VAR_000140 RCV001004240 rs397508804 RCV000586772 |
287 | N>Y | Cystic fibrosis Cystic fibrosis (cf) CF; decreased presence at the cell membrane due to increased internalization from the apical cell membrane; no effect on single channel gating and conductance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000987958 rs1584787782 CA368977579 |
288 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757849 rs1562891084 |
289 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516619 RCV000410831 CA16041127 |
289 | R>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327674 rs397508808 RCV001009416 RCV001831806 |
290 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1799022949 RCV001215678 |
292 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009411 rs397508811 COSM1084465 CA368977848 |
292 | E>* | endometrium Cystic fibrosis Cystic fibrosis (cf) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001061294 rs1799023050 |
292 | E>G | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577272 CA327678 rs397508811 |
292 | E>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577583 rs397508812 CA327680 |
293 | L>M | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397508813 RCV000577644 |
294 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516387 RCV000410404 |
297 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000180169 RCV000987959 RCV001311300 VAR_000141 COSM1488156 CA203580 rs143486492 RCV001165380 |
297 | R>Q | Cystic fibrosis breast CFTR-related disorders CF [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002483060 RCV000781243 RCV001835669 rs397508814 RCV000577784 CA327683 |
297 | R>W | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA368977969 RCV000985698 RCV001062588 rs1584789180 |
298 | K>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1180803268 CA368977993 RCV000664746 |
299 | A>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000590275 RCV001165381 RCV002492788 RCV001731504 VAR_000142 rs150691494 RCV000525077 CA247544 |
301 | Y>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508816 CA327687 RCV001009412 |
304 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000781230 RCV001273245 CA368978146 rs1562892143 |
305 | F>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577202 rs201885470 CA327689 |
305 | F>V | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA4450863 RCV001827196 rs746375310 RCV002400181 |
306 | N>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577403 CA327691 VAR_000143 rs397508817 |
307 | S>N | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397508818 RCV000670461 CA368978263 |
309 | A>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs397508818 RCV000589328 RCV000577190 RCV001826702 CA327692 |
309 | A>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs148013312 RCV000693290 RCV001835919 RCV000759768 RCV002493184 CA4450864 |
309 | A>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508818 CA368978259 RCV000674316 |
309 | A>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000855424 rs1584789226 |
311 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368978321 RCV001825644 rs1584789230 RCV000817425 |
311 | F>C | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121909016 CA325549 VAR_000144 RCV001642201 RCV000007573 |
311 | F>L | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_000145 | 311 | F>del | CF [UniProt] | Yes | UniProt |
|
rs121908768 RCV001004242 RCV000047290 RCV000759769 |
312 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001093485 RCV000577297 RCV001826703 RCV001004243 CA327696 rs75763344 VAR_000146 |
314 | G>E | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_000147 rs397508819 RCV000576978 CA327695 |
314 | G>R | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397508819 CA368978360 RCV000539778 |
314 | G>W | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001835839 RCV000855642 rs760319837 RCV000589384 RCV000554519 CA4450868 |
315 | F>S | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs75528968 RCV000007583 RCV001826437 RCV000079016 |
316 | F>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828182 RCV000266688 rs78742051 RCV001242008 CA10603955 |
316 | F>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA368978444 RCV001834853 RCV000587831 rs1204521684 |
317 | V>A | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA368978447 RCV000757786 rs1204521684 |
317 | V>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1584789267 RCV001009413 |
320 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508820 CA327699 RCV001009414 |
320 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001165383 CA368978487 rs56093012 RCV000757879 RCV000757077 RCV002533802 CA327703 RCV001830655 |
320 | L>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001526859 RCV001801915 CA325718 RCV001588829 RCV000590210 rs144476686 RCV000029549 RCV001165382 |
320 | L>V | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_009898 CA132755 rs1800085 RCV000036522 RCV001826558 RCV002371828 |
322 | V>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001811333 rs397508822 RCV000667037 CA327705 RCV001826704 |
324 | P>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4450873 RCV000735142 RCV002386309 rs373998255 |
325 | Y>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA368978601 RCV002434400 rs1584789296 RCV001827199 |
326 | A>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508823 RCV000577224 |
327 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828586 RCV001174738 CA4450875 RCV001241079 rs141115171 |
327 | L>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001004244 RCV000047303 RCV001831807 rs397508824 |
330 | G>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA328133 RCV000780126 RCV000623802 RCV001826604 RCV001004245 RCV000056402 rs79031340 RCV000760400 |
330 | G>* | Cystic fibrosis Inborn genetic diseases Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA327709 rs397508825 RCV001835670 RCV000780119 RCV000757880 |
331 | I>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002482913 rs193922533 RCV000029550 RCV001826517 RCV001723586 CA260262 RCV002284355 |
333 | L>F | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000577441 rs397508137 RCV002281547 CA326360 RCV001811317 |
334 | R>L | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397508137 RCV001165384 RCV001797612 CA326358 RCV000587058 COSM1622245 RCV000046192 RCV002281546 |
334 | R>Q | liver Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000007559 RCV001000033 RCV000763567 VAR_000148 RCV001826431 RCV001004246 CA340644 rs121909011 RCV000224060 |
334 | R>W | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF and CBAVD; mild; does not prevent maturation of glycans [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000046194 rs397508138 RCV001826606 |
336 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001004247 RCV001826607 CA345302 RCV000056337 VAR_000150 rs397508139 RCV000593715 |
336 | I>K | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001828921 RCV001239483 rs771716655 |
337 | F>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009438 rs397508140 |
337 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576968 rs397508142 CA326367 |
338 | T>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs77409459 CA325581 RCV001009472 VAR_000151 RCV000007614 RCV001269654 RCV000506655 |
338 | T>I | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; mild; isolated hypotonic dehydration [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001273246 RCV002468943 CA368978798 rs1554381352 |
340 | I>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA328077 RCV001004248 RCV000056338 rs397508144 RCV002496707 RCV000724655 |
341 | S>P | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831528 RCV000780169 RCV000723429 RCV000007554 rs387906360 RCV001004249 |
342 | F>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027900 RCV000046204 RCV001508220 RCV003221797 rs121908774 |
342 | F>* | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576945 rs397508146 VAR_000152 CA326372 |
346 | L>P | Cystic fibrosis CF; dominant mutation but mild phenotype [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA326373 RCV000577686 RCV000729383 RCV002247432 rs397508147 RCV000780155 COSM1084466 |
347 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium Cystic fibrosis Hereditary pancreatitis [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000007602 RCV001027909 RCV000508504 COSM1673484 VAR_000153 rs77932196 RCV000224726 RCV001004250 RCV001009366 CA340652 |
347 | R>H | Cystic fibrosis prostate Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA325561 RCV001004252 RCV000007591 VAR_000154 rs77932196 |
347 | R>L | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA340630 RCV002504761 RCV001530124 VAR_000155 rs77932196 RCV001004251 RCV000007530 RCV001831520 |
347 | R>P | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; MILD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000046210 RCV000339107 CA326375 rs142920240 RCV000781246 |
348 | M>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA368978884 rs1562892293 RCV000757785 |
349 | A>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000728852 RCV002247263 RCV000007592 CA325562 rs121909021 RCV001004253 RCV000780115 |
349 | A>V | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001306621 RCV001830230 rs1799031080 |
351 | T>A | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1800086 RCV000590589 CA4450882 RCV001829618 RCV000757084 RCV001785669 |
351 | T>I | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1800086 CA326377 VAR_009899 RCV001158654 RCV002265581 RCV001000006 RCV000588868 RCV000046212 |
351 | T>S | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000007619 RCV001004254 VAR_000156 RCV000985669 CA325583 RCV000763568 rs121908753 RCV001826444 RCV000660773 |
352 | R>Q | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA325686 rs193922497 RCV000727191 RCV000029469 RCV000506190 |
352 | R>W | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001009439 rs397508148 CA326379 |
353 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326381 RCV001731337 rs1800087 RCV000577480 VAR_009900 |
353 | Q>H | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV002284592 CA326384 rs397508150 |
356 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs573808767 RCV000670402 CA4450885 |
356 | W>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
rs397508151 RCV000577352 |
357 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000157 rs76879328 RCV001293471 RCV002247262 CA353709 RCV002415404 RCV000007589 |
359 | Q>K | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_000158 CA326387 rs397508152 RCV000577797 |
359 | Q>KK | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397508153 RCV001831716 CA326389 RCV001194313 |
359 | Q>R | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA353710 RCV002420286 RCV001293472 rs75053309 RCV000007589 |
360 | T>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001009522 rs387906361 RCV001831529 RCV000007555 |
361 | W>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906375 RCV000007634 RCV000727368 |
361 | W>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326393 CA326395 RCV001009436 RCV001831717 RCV000577300 rs397508154 |
361 | W>R | CFTR-related disorders Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA326398 RCV000577612 RCV000577402 CA326396 rs397508155 |
362 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1562892359 RCV000757804 |
364 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007574 rs387906365 |
365 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326401 rs76727851 RCV000577324 COSM744022 |
365 | L>P | lung Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) [Cosmic, NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs397508156 RCV000577030 |
369 | N>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_000159 | 370 | K>KNK | CF [UniProt] | Yes | UniProt |
|
RCV000757819 rs1562892387 |
372 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368979127 RCV000790623 rs1584789514 |
372 | Q>H | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1799033866 RCV001835366 RCV001810568 |
372 | Q>R | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003155087 CA273032 RCV000149423 RCV001826800 rs556880586 |
373 | D>N | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001000769 RCV001192399 RCV000577124 CA326410 rs73215912 |
375 | L>F | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA368979815 rs1562892823 RCV000757821 |
376 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508163 RCV000056341 RCV001834824 |
378 | Q>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000672571 CA4450907 rs768589673 |
378 | Q>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326415 RCV001283961 RCV000665109 rs397508165 RCV000781223 |
379 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001263474 CA4450908 RCV001283962 rs774308232 |
379 | E>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000757857 CA326413 rs397508165 |
379 | E>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000583796 RCV001004256 CA368979924 rs1554381605 |
381 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577457 CA326417 rs397508166 |
383 | L>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs397508167 RCV000577608 |
384 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250526 rs1799061745 |
384 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1799062053 RCV001043484 |
385 | Y>C | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071895 rs1799062001 |
385 | Y>H | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000985671 RCV001004257 rs121908785 RCV001829609 RCV000046247 |
386 | N>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009434 rs397508169 |
388 | T>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4450912 RCV001580520 RCV000765924 RCV001803865 RCV000822612 rs143860237 RCV001158655 RCV000590683 |
388 | T>M | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001831719 rs397508171 RCV000577174 |
392 | V>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249737 CA326422 RCV000577671 rs397508170 |
392 | V>A | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326424 RCV000577118 rs397508170 |
392 | V>G | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1799062903 RCV001347502 |
393 | V>G | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780145 RCV003166069 CA368980144 rs1562892874 RCV001825524 |
393 | V>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368980185 RCV000765925 RCV001785670 RCV000587466 RCV001829619 rs1396443734 |
396 | N>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4450917 rs753143757 RCV001833593 RCV000457331 |
396 | N>Y | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs146463120 RCV000577434 CA326429 |
399 | A>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000589155 rs146463120 RCV001158656 CA4450918 RCV000669005 |
399 | A>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1562892895 RCV000757822 |
400 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1325574209 CA368980247 RCV000806606 RCV001830756 |
400 | F>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001831720 CA328081 rs397508174 RCV000056343 |
401 | W>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001831721 RCV000056344 CA328083 rs397508175 |
401 | W>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508177 CA326435 RCV000577449 |
403 | E>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4450954 RCV001007590 rs200899224 RCV001834837 RCV000589364 |
404 | G>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001834713 rs1324302547 RCV000542240 CA368981275 |
404 | G>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000689713 CA4450955 rs559197407 RCV001830500 |
406 | G>E | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA368981306 RCV001829620 rs766063304 RCV000586160 |
407 | E>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001833747 RCV001193708 RCV001243035 rs766063304 RCV002491589 CA4450957 |
407 | E>K | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326439 RCV001831723 RCV001811319 RCV000669652 rs397508180 |
407 | E>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002368030 RCV000596788 CA4450960 rs748155731 |
411 | K>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577391 rs397508181 |
412 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001824720 rs3034796 RCV001195832 RCV000371586 RCV002248507 |
412 | A>missing | Cystic fibrosis Hereditary pancreatitis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577770 rs397508182 |
412 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000046266 RCV001831724 CA326443 RCV001093486 rs397508183 |
414 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001953573 rs397508184 |
414 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777850419 RCV000554831 CA4450962 |
416 | N>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1584793451 RCV001009442 |
417 | N>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000224343 RCV001762396 RCV000173697 RCV000366455 rs4727853 CA200678 RCV001095146 |
417 | N>K | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001831725 RCV001811320 RCV002490609 RCV001785467 CA326446 rs397508185 |
418 | N>S | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667152 rs1554382616 |
418 | N>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377629509 RCV002318931 CA164960217 RCV001836064 |
420 | K>E | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA4450963 RCV001588894 RCV001158657 RCV000429132 rs201880593 |
422 | S>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002478881 rs376039579 CA4450964 RCV000811254 |
423 | N>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000590109 RCV000397807 CA4450965 rs371107552 RCV002480028 RCV000462099 |
424 | G>S | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1584793492 CA368981624 RCV000987961 |
427 | S>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001241432 RCV001835103 rs763577850 |
429 | F>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785637 rs397508186 RCV000759749 |
434 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA164960291 RCV001004259 RCV000757852 CA368981821 rs367934560 RCV001830445 RCV000670033 |
434 | S>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs765791986 RCV001283963 RCV001070714 CA4450971 |
437 | G>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002255311 RCV000265349 rs201434579 CA239134 RCV001589052 RCV000436508 |
438 | T>A | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001161864 rs397508187 |
439 | P>A | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326449 RCV000046271 rs397508187 |
439 | P>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA368981932 rs397508187 RCV002318939 |
439 | P>T | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001278579 rs1799213656 |
440 | V>L | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508188 RCV000577476 CA326452 |
441 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000820702 CA368982007 rs1584793546 |
442 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000678263 rs1562895066 |
443 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009516 rs397508190 RCV000780144 RCV000577769 |
443 | D>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147422190 RCV000078976 VAR_080304 RCV001089864 CA175540 RCV001004444 RCV002256030 RCV000150335 RCV000046274 RCV001009469 |
443 | D>Y | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002492691 rs397508189 RCV000169333 RCV001826867 RCV000224712 |
444 | I>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1799214404 RCV001203316 |
444 | I>M | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326455 RCV000577338 rs397508191 |
444 | I>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001829842 RCV000731055 RCV001844212 CA4450975 RCV000667171 rs397508191 |
444 | I>T | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000046278 rs397508192 RCV001835653 RCV001001369 RCV001004445 |
447 | K>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000630453 CA368982204 rs748642635 RCV000781232 |
448 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1584793570 RCV000814060 CA368982200 |
448 | I>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562895104 RCV000759750 RCV002533831 |
450 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554382653 CA368982277 RCV000669047 |
451 | G>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326458 rs397508193 RCV002383334 |
452 | Q>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000785638 CA368982327 rs1562895128 |
453 | L>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001004446 VAR_000160 RCV000660853 RCV001530091 rs74551128 RCV000763569 RCV001826427 CA340631 RCV000007531 |
455 | A>E | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000729714 RCV000474081 rs74551128 CA4450977 RCV001193705 |
455 | A>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs797045161 RCV000191006 |
456 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001331274 RCV001001125 CA325689 RCV000029474 RCV000731635 RCV001004447 RCV001009542 RCV000763570 rs193922500 |
456 | V>A | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA326460 rs397508195 RCV000577746 VAR_000161 |
456 | V>F | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001835909 RCV000669800 CA368982464 RCV000780121 rs1554382664 |
457 | A>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000046285 RCV001004448 rs397508196 |
458 | G>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA325530 RCV000007552 rs121909009 VAR_000162 |
458 | G>V | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001161867 rs1799216405 |
462 | A>S | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830142 RCV001297012 rs1799216405 |
462 | A>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250572 rs1799216615 |
464 | K>E | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001197496 RCV001009443 rs397508198 CA326465 RCV001357911 |
464 | K>N | Cystic fibrosis Hereditary pancreatitis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA368982595 RCV000855425 rs1584793633 |
464 | K>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001004450 CA4451001 RCV001003496 RCV000586527 rs758900656 |
465 | T>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009519 RCV000724154 RCV001826610 rs121908805 RCV000029475 RCV000785639 CA342833 CA328085 RCV001642234 RCV001826510 RCV001004451 RCV000056348 |
466 | S>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA326469 rs121908805 COSM3735897 RCV002390195 RCV002496708 RCV001192400 |
466 | S>L | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation skin Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1800089 CA326471 VAR_000163 RCV000588804 RCV000577709 RCV001824591 |
467 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001831607 RCV000029476 RCV002477011 RCV000724155 rs139573311 RCV001004452 CA342834 |
467 | L>P | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA326473 rs397508202 RCV000577792 |
468 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577713 rs143218779 RCV001001192 CA4451002 CA326477 RCV001827153 |
469 | M>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577569 RCV002288549 CA326475 rs397508203 RCV001009537 |
469 | M>V | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577177 rs397508204 |
470 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA132747 RCV001810835 rs213950 VAR_000164 RCV001095216 RCV000036517 RCV000007550 |
470 | V>M | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000119035 rs213950 RCV000152994 |
470 | V>V | Hereditary pancreatitis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554384343 RCV000672662 |
472 | M>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831727 RCV000046300 rs397508205 RCV000507504 |
473 | G>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224828 RCV001828792 rs1799417518 |
473 | G>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756206533 RCV001269768 RCV001236737 |
474 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA164967631 rs756206533 RCV000785640 |
474 | E>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000390245 CA10606584 rs886044297 RCV000805320 |
477 | P>H | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886044297 RCV001834838 CA368984387 RCV000588954 RCV003105976 |
477 | P>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532369 CA4451004 rs139054556 RCV000759753 RCV000781249 |
477 | P>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA326482 rs397508207 RCV002394265 |
479 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808110 RCV001283965 RCV000507575 RCV002476013 CA4451005 RCV001829446 rs754152822 |
479 | E>D | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004453 VAR_000165 RCV000007607 rs79282516 CA221007 RCV000790782 |
480 | G>C | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001826611 CA326484 rs79282516 RCV001753465 RCV000577421 |
480 | G>S | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001342083 RCV001831079 rs1799418782 |
482 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508209 RCV000577552 |
483 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1799418948 RCV001264355 |
483 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000595581 RCV001193105 rs397508210 RCV000046307 CA326489 RCV000770984 |
484 | H>Y | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138427145 CA326491 RCV000666426 |
485 | S>C | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001095217 RCV000592449 CA4451006 rs143980575 RCV000361103 RCV001001194 |
485 | S>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001528800 RCV000056349 RCV001831728 rs397508211 CA328087 |
489 | S>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001004454 rs775663783 RCV000506324 RCV001865649 |
490 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000671206 RCV001002051 RCV002261168 CA4451010 rs778205742 |
491 | C>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326494 rs397508213 RCV001009387 |
491 | C>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000763571 RCV001810836 RCV001004455 VAR_000166 CA325551 rs121909017 RCV000007575 |
492 | S>F | Bronchiectasis with or without elevated sweat chloride 1 Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000007640 rs121908775 RCV001826448 RCV002496301 |
493 | Q>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002288473 RCV000007526 rs77101217 RCV001004456 RCV002496294 CA325518 RCV000727628 RCV001835623 |
493 | Q>* | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508214 RCV000577002 CA326496 |
493 | Q>P | Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA326498 RCV000577263 rs397508214 |
493 | Q>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000987962 rs1584798316 |
496 | W>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200626971 RCV001264356 CA164967727 |
496 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001826612 rs397508216 RCV000576357 CA326501 |
496 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368984571 RCV000507227 rs1554384382 RCV001250571 RCV003128811 |
496 | W>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1799421098 RCV001254613 |
497 | I>S | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001785723 RCV001825521 rs1562898400 RCV001283966 RCV000780114 CA368984594 |
498 | M>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577735 rs397508219 RCV001804778 CA326507 |
499 | P>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801933 rs1584798328 CA368984613 |
499 | P>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508219 RCV001206975 RCV000587359 CA368984606 |
499 | P>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4451011 RCV002222480 RCV000373122 RCV000757859 rs774945680 |
500 | G>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002281548 rs397508221 CA326510 RCV000577075 |
501 | T>A | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001283967 RCV000856672 rs397508222 CA326512 |
502 | I>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA368984642 rs397508222 RCV000757790 |
502 | I>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000577239 CA326514 rs397508222 |
502 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000630462 rs768243039 CA4451013 RCV001834988 |
502 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508223 CA326517 RCV000757811 RCV001826613 |
504 | E>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326516 VAR_000167 RCV000577315 rs397508223 |
504 | E>Q | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA326519 RCV001269698 RCV001004457 rs1800091 RCV000577685 |
506 | I>L | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000046332 CA326525 RCV001844024 rs1800092 VAR_009901 |
506 | I>M | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397508224 CA326523 RCV000577616 |
506 | I>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508224 RCV000727671 CA326521 RCV000046330 |
506 | I>T | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000759754 RCV001282755 RCV000245320 VAR_000168 rs1800091 RCV000007551 CA254110 |
506 | I>V | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000630461 rs1801178 CA368984708 |
507 | I>F | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV000169215 RCV001812146 CA274056 VAR_000169 rs1801178 |
507 | I>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP |
|
RCV000780118 VAR_000170 RCV000007525 RCV000224705 RCV001004458 RCV001826426 RCV002496293 rs121908745 |
507 | I>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CF; impaired maturation of glycan chains CFTR-related disorders [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs121908745 VAR_000170 |
507 | I>del | CF; impaired maturation of glycan chains [UniProt] | Yes |
UniProt dbSNP |
|
RCV000119038 RCV000626693 RCV000785641 RCV000624683 RCV001787370 RCV001004459 RCV001000022 RCV000626692 RCV002490332 RCV000058929 RCV001831519 RCV002243627 RCV001642198 rs113993960 RCV001787371 RCV002251888 RCV000007524 RCV000007523 |
508 | F>missing | Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 1, modifier of Cystic fibrosis Hereditary pancreatitis Inborn genetic diseases CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs74571530 RCV000078978 RCV001327947 CA146695 RCV001731144 RCV001009496 RCV000007546 RCV002255993 RCV001281707 RCV001642200 VAR_000172 |
508 | F>C | Infertility Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs121909001 VAR_000171 |
508 | F>missing | CF and CBAVD; most common mutation in Caucasian CF chromosomes; impairs protein folding and stability; causes local changes to the surface that mediates interactions between domains; decreases frequency of channel opening in vitro; binds to the cytokeratin-8 and through this binding is primed for the degradation pathway that ends in the proteasome, thus impairing trafficking; impairs maturation and trafficking to the cell membrane; impairs recycling to the cell membrane after endocytosis [UniProt] | Yes |
UniProt dbSNP |
|
rs121909001 VAR_000171 |
508 | F>del | CF and CBAVD; most common mutation in Caucasian CF chromosomes; impairs protein folding and stability; causes local changes to the surface that mediates interactions between domains; decreases frequency of channel opening in vitro; binds to the cytokeratin-8 and through this binding is primed for the degradation pathway that ends in the proteasome, thus impairing trafficking; impairs maturation and trafficking to the cell membrane; impairs recycling to the cell membrane after endocytosis [UniProt] | Yes |
UniProt dbSNP |
|
CA368984742 rs1562898465 RCV000757791 |
509 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048996 rs752955846 |
510 | V>F | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562898471 RCV000757825 |
511 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009541 VAR_000173 CA326529 RCV000577027 rs397508225 |
513 | D>G | Cystic fibrosis CBAVD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001264357 rs1799425190 |
514 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001507711 rs1301983423 RCV000791632 |
515 | Y>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007560 RCV001813963 rs121908776 RCV001826432 RCV001528991 |
515 | Y>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368984834 RCV000586452 RCV001834839 RCV001853981 rs1554384431 |
515 | Y>C | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778175128 CA4451019 RCV000665565 |
515 | Y>H | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002249345 rs1562898489 RCV001172495 |
516 | R>missing | Cystic fibrosis Hereditary pancreatitis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002405289 rs397508226 RCV001756583 CA326530 |
516 | R>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562898496 RCV000757826 CA368984867 |
517 | Y>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368984911 RCV000757793 rs1562898510 |
520 | V>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001826436 VAR_000174 rs77646904 RCV001528232 CA325545 RCV000007570 RCV000781233 RCV001004460 |
520 | V>F | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs77646904 RCV000855641 CA221008 RCV001163392 RCV002247397 COSM1084468 RCV000589201 RCV000046339 |
520 | V>I | pancreas endometrium Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA325546 RCV000007571 rs121908754 RCV001831537 |
524 | C>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs368516826 RCV001293621 RCV000816454 CA164967837 |
524 | C>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000585951 RCV000673111 CA368984990 rs1554384440 |
524 | C>Y | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508227 CA326532 RCV000046342 RCV001826614 |
525 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003117470 rs374453187 RCV000667996 CA4451025 RCV001004461 |
527 | E>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA368985063 RCV000731021 rs1800095 CA326541 RCV000577045 |
528 | E>D | Cystic fibrosis [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs773018372 CA4451026 RCV000809718 RCV001835872 RCV000591105 RCV002491223 |
528 | E>K | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508236 CA326547 RCV000730611 RCV001857384 |
529 | D>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000667345 rs397508235 CA368975757 COSM1699243 |
529 | D>N | skin Cystic fibrosis Cystic fibrosis (cf) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000577237 rs397508237 CA326549 |
530 | I>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508238 RCV000577212 CA326551 |
533 | F>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831543 RCV002482841 RCV000755924 RCV000007593 CA325564 rs387906368 |
534 | A>E | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1276867493 RCV001834840 RCV000586088 CA368975883 RCV001860127 |
534 | A>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA326553 rs148173473 RCV000577553 |
536 | K>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4451044 RCV001324938 RCV001830608 RCV000730739 RCV000781287 rs148173473 |
536 | K>E | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577379 rs397508239 |
537 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002493361 CA4451046 RCV001855811 RCV000734403 rs144745159 |
539 | I>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001009444 rs1584810167 |
540 | V>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs187318937 CA164944936 RCV002400159 RCV000985678 |
540 | V>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000007535 RCV000763572 RCV001826428 RCV000058931 RCV000119041 RCV001004463 rs113993959 CA284836 |
542 | G>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_080305 | 542 | G>del | CF [UniProt] | Yes | UniProt |
|
RCV001829869 RCV000780116 RCV000671136 CA4451049 rs762224063 |
544 | G>S | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_000175 CA326558 RCV000577022 rs397508241 |
544 | G>V | Cystic fibrosis CBAVD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1387755887 RCV000675025 CA368976019 |
545 | G>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397508246 RCV001009430 |
548 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA325522 VAR_000177 rs121908755 RCV000007537 |
549 | S>I | Cystic fibrosis Cystic fibrosis (cf) CF; impaired maturation of glycan chains [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001831522 RCV000727629 VAR_000176 RCV002247260 rs121908755 RCV000007536 RCV002496296 RCV000211264 RCV001004465 CA325521 |
549 | S>N | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000763573 RCV000508411 RCV000211129 RCV002248790 CA368976076 RCV001004466 RCV001826538 RCV000056350 RCV000576753 VAR_000178 CA254107 rs121909005 |
549 | S>R | Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorders Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CF; impaired maturation of glycan chains [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD UniProt |
|
RCV000043664 rs121908757 RCV001826533 RCV002247407 RCV000211346 CA254108 RCV000781222 RCV001004464 |
549 | S>R | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001826616 rs397508247 CA326572 RCV000046380 |
550 | G>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508247 RCV000577471 CA326570 |
550 | G>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001826618 RCV000046387 rs397508251 |
551 | G>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577566 rs397508252 |
551 | G>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000179 RCV000763574 RCV000211289 RCV000301838 rs75527207 RCV001831524 RCV001004467 RCV000007540 CA340634 RCV000119040 |
551 | G>D | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF; decrease in the frequency of channel opening in vitro; decrease in channel activity and ATPase activity; complete loss of bicarbonate transport; no effect on trafficking to the cell membrane, protein stability, nor on the maturation of glycans [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002247261 RCV001831533 rs121909013 VAR_000180 CA325536 RCV000211256 RCV000007562 RCV000224595 |
551 | G>S | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF; decrease in bicarbonate transport; no effect on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs397508253 RCV000757812 |
552 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA325585 RCV001826445 RCV000007622 rs76554633 |
552 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA368976108 rs76554633 RCV000757794 |
552 | Q>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001266747 rs74597325 RCV003137499 RCV001831525 RCV001004260 RCV000763575 RCV000007542 CA340635 RCV000781237 RCV000506601 |
553 | R>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Inborn genetic diseases Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs74597325 CA326583 RCV000577731 |
553 | R>G | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA325608 RCV000007646 VAR_000181 rs121909044 |
553 | R>Q | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs397508254 RCV000577154 |
554 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577188 CA326586 rs397508255 |
555 | R>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007617 RCV001009505 RCV000046398 RCV000174251 rs75789129 VAR_080306 CA200903 |
556 | I>V | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000577016 RCV001826619 rs397508257 |
557 | S>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922504 RCV001811199 CA325694 VAR_000182 RCV000029483 |
558 | L>S | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001009429 rs397508258 |
559 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs75549581 RCV001228121 CA368976209 |
559 | A>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs75549581 CA340637 RCV001004261 RCV002476941 RCV000521321 RCV001826429 VAR_000183 RCV000007543 |
559 | A>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; impaired maturation of glycan chains [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA326596 RCV002222371 RCV000577276 rs397508260 |
560 | R>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA325552 RCV000007576 VAR_000184 rs80055610 |
560 | R>K | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508267 VAR_000185 CA326605 RCV000576677 |
560 | R>S | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs80055610 RCV000780134 RCV001004262 RCV001831521 RCV002504762 VAR_000186 RCV000224789 CA340633 RCV000007533 |
560 | R>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; impairs maturation and trafficking to the cell membrane; decrease in channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000007662 RCV000759032 RCV001004265 RCV001826451 CA325617 VAR_080307 rs121909047 |
561 | A>E | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; impairs maturation and trafficking to the cell membrane; decrease in channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001192433 CA368976992 RCV001827180 rs1226880376 RCV001785764 |
561 | A>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_000187 RCV001163395 RCV000029484 rs1800097 CA240027 RCV002256003 RCV000587283 RCV001526855 |
562 | V>I | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CBAVD and CF; unknown pathological significance; found in cis of the IVS8 TG11-T5 allele, which affects exon 9 splicing; no effect on protein maturation, trafficking to the cell membrane, nor on channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000417570 RCV002496709 RCV000825895 rs1800097 RCV001826621 CA326607 RCV000046421 VAR_000188 |
562 | V>L | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA326608 RCV000577631 rs121909006 |
563 | Y>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121909006 RCV000757828 CA368977018 |
563 | Y>H | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121909006 VAR_000189 CA325520 RCV001004266 RCV000007534 RCV002254258 RCV001009533 |
563 | Y>N | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA164946289 RCV001527039 RCV001811456 RCV000707684 rs375325315 |
564 | K>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000029485 RCV000507024 RCV002477012 RCV001004267 rs193922505 |
565 | D>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001588873 rs397508270 RCV001009513 RCV000576976 RCV001831733 RCV002469000 CA326611 |
565 | D>G | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1375786834 RCV000672145 CA368977074 |
566 | A>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002406676 RCV000755915 rs1562907186 CA368977086 |
567 | D>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831734 RCV000755914 RCV000576635 rs397508274 |
568 | L>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508273 RCV000046430 CA326618 |
568 | L>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000576998 rs397508275 CA326621 |
568 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508278 RCV000577826 CA326626 |
569 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000577599 rs397508277 CA326625 VAR_000190 |
569 | Y>C | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397508276 RCV000780130 RCV000046434 RCV001004268 RCV001269564 VAR_000191 RCV001826622 CA326624 |
569 | Y>D | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000577252 rs397508276 CA326623 RCV000985680 VAR_000192 |
569 | Y>H | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001835655 CA326629 rs397508280 VAR_000193 RCV000577164 |
571 | L>S | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000577465 rs397508281 |
572 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001813110 RCV001830089 rs1792007322 RCV002542983 |
572 | D>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326631 rs397508282 VAR_000194 RCV000577056 |
572 | D>N | Cystic fibrosis CF; impaired maturation of glycan chains [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001834909 RCV001375499 CA4451071 RCV000591506 rs772223589 RCV001785678 |
573 | S>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001831523 RCV002490333 rs121908758 RCV001009367 CA325523 RCV000007539 RCV001004269 VAR_000195 RCV002254259 |
574 | P>H | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs397508283 CA326632 RCV000577818 |
574 | P>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4451072 RCV000803536 RCV002233757 RCV001592944 RCV000759033 rs773569201 |
575 | F>Y | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA326634 rs397508284 RCV000576993 |
576 | G>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000582695 CA182838 RCV000029486 RCV001089864 RCV001172493 RCV001009484 rs1800098 RCV000155472 RCV000078981 RCV000584175 VAR_000196 RCV000007585 |
576 | G>A | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs55928397 RCV001263575 |
577 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326638 RCV001811321 rs397508286 RCV000577606 |
577 | Y>F | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000761422 rs1562907232 |
578 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs979121392 RCV001835248 CA164946410 RCV001245809 |
578 | L>V | Variant assessed as Somatic; impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001577799 VAR_000197 RCV001009377 rs397508288 RCV001004270 RCV001831735 RCV000577633 CA326644 |
579 | D>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA326640 RCV000577439 rs397508287 |
579 | D>Y | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577540 rs397508289 |
580 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508290 RCV002496710 RCV000577130 RCV001831736 |
581 | L>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508293 CA326653 RCV000781252 RCV000576955 |
582 | T>I | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000577495 rs397508293 CA326651 |
582 | T>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA326649 RCV002290861 RCV002400414 rs397508292 RCV002282828 |
582 | T>S | Cystic fibrosis Hereditary pancreatitis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004271 RCV000781242 CA345306 RCV000056353 RCV001831737 rs397508296 RCV000724156 COSM1084472 |
585 | E>* | Variant assessed as Somatic; 0.0 impact. pancreas endometrium Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA368977294 rs1562907260 RCV000757795 |
587 | F>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001358943 RCV000591950 RCV001834912 rs397508297 CA4451078 |
588 | E>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4451077 RCV001296330 RCV001201269 rs755986694 RCV001828615 |
588 | E>K | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508297 RCV000577259 CA326657 |
588 | E>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508300 RCV001004272 RCV000577310 CA326669 |
589 | S>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA326665 RCV000507002 rs397508300 RCV001826626 RCV000757803 |
589 | S>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA164946469 RCV001218510 rs917625450 RCV001828736 |
589 | S>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577652 CA326667 rs397508300 |
589 | S>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1347776232 RCV001833926 RCV001222253 |
590 | C>Y | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554389245 CA368977794 RCV000536733 |
594 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577679 rs397508301 |
595 | M>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000507443 RCV001275237 rs750140050 RCV001800723 CA4451094 |
595 | M>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001027890 rs397508303 RCV000046477 |
598 | K>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002284248 CA326674 rs397508302 |
598 | K>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA368977872 RCV000665248 rs397508302 |
598 | K>E | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs754945422 CA4451098 RCV001346243 RCV001825926 |
599 | T>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA326679 RCV000577515 rs397508305 |
600 | R>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001193104 rs1792031758 RCV001828595 |
601 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326681 VAR_000198 RCV001009373 rs397508306 RCV000577043 |
601 | I>F | Cystic fibrosis Cystic fibrosis (cf) CF; impaired maturation of glycan chains [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397508307 RCV000577395 CA326682 |
601 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577777 CA326684 rs143036685 |
603 | V>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009540 rs397508308 RCV000665515 CA326688 |
604 | T>I | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1554389267 CA368978040 RCV000551478 |
604 | T>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001800352 rs397508308 RCV000577114 CA326686 |
604 | T>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000046486 rs121908777 |
607 | M>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577047 rs397508309 CA326690 |
608 | E>G | Variant assessed as Somatic; impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000507939 RCV000778818 rs397508310 COSM378499 CA326694 |
609 | H>L | lung Cystic fibrosis Cystic fibrosis (cf) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV001284132 RCV001009543 rs397508310 RCV001001757 RCV000577469 CA326692 |
609 | H>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1048183757 CA368978234 RCV000866930 |
610 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397508311 VAR_000199 RCV000577725 CA326696 |
610 | L>S | Cystic fibrosis CF; impaired maturation of glycan chains [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002228156 VAR_000200 RCV000577180 rs201978662 CA326697 |
613 | A>T | Cystic fibrosis CFTR-related disorders CF; impaired maturation of glycan chains [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes dbSNP gnomAD |
|
RCV001831738 RCV001009371 VAR_000201 RCV000577786 rs201124247 RCV001004275 CA326700 RCV002227057 |
614 | D>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; impaired maturation of glycan chains [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs397508312 RCV001163686 |
614 | D>N | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000202 RCV000790746 RCV002490611 RCV001004276 CA221010 rs139468767 RCV000046494 |
618 | I>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CF; impaired maturation of glycan chains [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577067 CA326701 VAR_000203 rs397508313 |
619 | L>S | Cystic fibrosis CF; impaired maturation of glycan chains [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000577346 rs397508314 CA326702 VAR_000204 |
620 | H>P | Cystic fibrosis CF; impaired maturation of glycan chains [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000577374 rs397508315 CA326703 VAR_000205 |
620 | H>Q | Cystic fibrosis CF; strong decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001263576 rs1792033327 |
621 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256004 RCV000506455 RCV000763577 rs121908759 RCV002228058 RCV001004277 CA326704 RCV001009381 RCV001588828 VAR_000206 RCV000046498 |
622 | G>D | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CBAVD; decreased channel activity; has no effect on glycan maturation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000671291 CA368978613 rs1554389290 |
628 | G>A | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000730837 RCV001831739 RCV000577206 rs397508316 VAR_000207 RCV000577750 CA326706 CA326707 |
628 | G>R | CFTR-related disorders Cystic fibrosis CF; impaired maturation of glycan chains [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000671755 CA326708 rs397508317 |
633 | L>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA326710 RCV000577384 VAR_000208 rs397508318 |
633 | L>P | Cystic fibrosis CF; impaired maturation of glycan chains [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001009433 rs1381239923 |
635 | N>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451111 rs374702882 RCV000667114 |
636 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554389296 RCV001835637 RCV000029489 |
637 | Q>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508320 CA326713 RCV000577807 |
637 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757082 rs1562907846 CA368978775 RCV001830657 |
638 | P>L | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000664600 CA368978768 rs1368033715 |
638 | P>S | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397508322 RCV000577011 |
639 | D>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827168 RCV001280601 rs1584812217 RCV001004278 |
641 | S>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000046508 RCV001508587 RCV000780128 RCV001027891 rs121908779 RCV001004279 |
641 | S>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368978853 rs1085307844 RCV000489820 RCV001834592 |
643 | K>R | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4451116 RCV002491165 RCV001240681 RCV002307556 rs377731410 |
645 | M>K | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001836253 RCV001812331 RCV002411929 RCV002290681 rs377731410 CA4451115 |
645 | M>T | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA368978891 RCV000757805 rs1562907873 |
646 | G>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207944 rs1562907873 |
646 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1481564133 RCV000785629 |
648 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909033 VAR_000209 CA325587 RCV000007623 |
648 | D>V | Cystic fibrosis Cystic fibrosis (cf) CF; decrease in bicarbonate transport; no effect chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002493084 RCV000665693 RCV001829832 CA4451120 rs200204024 |
650 | F>L | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs780526529 VAR_000210 CA4451121 RCV001827184 COSM202014 RCV001785765 RCV001192401 |
651 | D>N | Variant assessed as Somatic; 9.24e-05 impact. large_intestine Cystic fibrosis CFTR-related disorders CF [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1800099 CA368979009 RCV001347157 |
654 | S>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397508323 RCV000577648 CA326719 RCV001831740 |
656 | E>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001263577 rs1792036190 |
657 | R>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908809 RCV000577042 |
659 | N>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1173283 CA368979116 rs1562907896 RCV000780129 COSM1447498 |
660 | S>* | oesophagus large_intestine Cystic fibrosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000577201 rs397508324 |
661 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835363 CA368979135 rs1485998437 RCV001812982 RCV001871684 |
661 | I>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA164947651 RCV001832473 rs777973729 RCV001051676 |
661 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001001298 RCV000046515 rs397508325 RCV001831741 |
663 | T>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326725 RCV001781372 RCV001831742 rs397508327 RCV000577577 |
664 | E>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001283850 CA368979156 VAR_000211 rs1177201180 |
665 | T>S | Cystic fibrosis CF; no effect on glycan maturation and channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001263578 rs1792036942 |
666 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000212 rs1800100 RCV001089864 RCV001172493 RCV000723382 RCV001009490 RCV002256005 RCV000155473 CA182840 RCV000582625 RCV000029490 RCV000583839 RCV000515296 |
668 | R>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001027915 RCV001530162 RCV001004281 rs121908812 RCV000029491 |
670 | S>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420276 rs397508330 RCV000508007 |
672 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326730 RCV001831743 RCV000046523 rs397508331 RCV002483054 |
673 | G>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs762888022 CA4451129 RCV001242641 |
676 | P>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA326734 rs397508333 RCV000046525 |
679 | W>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001273210 rs201295415 CA4451133 RCV000378943 RCV002487246 RCV001175035 |
681 | E>V | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000667367 RCV001829843 RCV001009530 rs1554389346 |
682 | T>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009432 rs1584812361 |
682 | T>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002490440 RCV000577677 RCV000043563 RCV002288526 rs121908746 RCV001000726 RCV001004282 RCV001826529 RCV000598782 |
684 | K>missing | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation CFTR-related disorders Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000763578 RCV000506221 RCV000029492 rs121908799 |
684 | K>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750642366 RCV001070987 RCV001194339 |
684 | K>N | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000152995 RCV000757806 RCV002251929 RCV001004283 RCV000624094 rs121908746 RCV001826512 RCV000029493 |
685 | Q>missing | Cystic fibrosis Inborn genetic diseases CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508334 RCV000577477 RCV001009523 |
685 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000191011 RCV001835856 rs797045162 |
685 | Q>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508336 RCV000046532 CA326740 RCV001826629 |
685 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201444561 RCV000665258 CA4451135 RCV000780141 RCV001163687 |
686 | S>Y | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA368979522 RCV001009460 rs1584812425 |
689 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001091000 RCV001862687 rs780579840 CA4451136 |
690 | T>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA326742 RCV000577559 rs397508337 |
692 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577277 CA326744 rs397508338 VAR_000213 |
693 | F>L | Cystic fibrosis Cystic fibrosis (cf) CF; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000674884 CA240239 RCV002469045 RCV000174684 rs145540754 VAR_000213 |
693 | F>L | Cystic fibrosis Cystic fibrosis (cf) CF; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801495 rs397508339 RCV000507543 RCV001826630 |
695 | E>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577520 rs397508340 CA326746 |
696 | K>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508341 RCV001009461 RCV000757807 |
697 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835130 rs1395267446 CA368979840 RCV001242511 |
707 | S>C | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000727640 RCV001826631 RCV001004468 RCV001000919 rs121908760 RCV000056359 CA328093 |
709 | R>* | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA326749 RCV003155057 RCV001004469 RCV002415501 rs397508342 |
709 | R>Q | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001004470 rs75115087 RCV000007624 CA325588 RCV000759034 RCV001826446 |
710 | K>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080308 | 710 | K>del | CF [UniProt] | Yes | UniProt |
|
RCV001304358 rs1792042320 |
711 | F>L | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001826632 CA326751 RCV000576466 rs397508343 |
715 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001194338 RCV001785711 CA4451147 RCV000728431 RCV001830598 rs141235765 RCV002535073 |
715 | Q>H | Cystic fibrosis Inborn genetic diseases CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121909023 CA254113 RCV000007594 |
716 | K>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326753 RCV001009462 rs397508344 |
716 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs142432539 CA4451149 RCV001785766 RCV002497338 RCV001193706 RCV001832337 |
718 | P>R | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508345 RCV000577719 CA326754 |
719 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000785630 RCV001826633 CA326756 rs397508346 |
720 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326760 rs200531709 RCV001193072 RCV000671215 RCV001835657 |
723 | G>V | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000577536 RCV002265582 rs199791061 RCV001009489 CA326762 RCV000590320 |
725 | E>K | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
rs746418935 RCV000007605 RCV000727574 RCV000781235 RCV001826442 RCV001004471 |
726 | E>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368980306 rs1584812535 RCV002319210 RCV001827187 |
728 | S>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326765 RCV000576991 rs397508349 |
730 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000056360 CA328095 rs397508350 RCV001269766 RCV001831744 |
732 | L>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508351 RCV000577223 |
735 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326768 rs397508352 RCV000577061 |
735 | R>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002298455 rs186089140 CA326770 RCV001369922 |
737 | S>F | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000056361 RCV001528510 rs397508353 RCV001835658 |
739 | V>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451155 RCV001827188 RCV002319212 rs150772285 |
740 | P>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs397508354 CA326772 RCV001009459 RCV001831745 |
745 | G>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001834823 RCV000576375 rs397508355 |
748 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508356 RCV001009455 |
750 | P>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256031 CA221011 RCV000078984 RCV001588874 RCV001009488 RCV000675059 rs140455771 |
750 | P>L | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001221260 CA4451159 rs772661780 RCV000731168 |
751 | R>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508357 CA4451160 RCV000757861 |
751 | R>H | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000675114 CA10581251 rs397508357 RCV001589163 RCV001002669 RCV000224113 |
751 | R>L | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766541549 RCV001311301 CA4451162 RCV000630459 RCV001834987 |
752 | I>S | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577629 rs201888075 CA326780 |
753 | S>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150157202 RCV000589543 RCV000242825 CA326784 RCV002255272 RCV000046566 RCV001163690 VAR_000214 |
754 | V>M | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA326786 RCV000666642 rs397508359 |
760 | T>M | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs387906376 RCV000007641 |
764 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000056363 RCV001831746 rs121908810 RCV000759035 COSM202015 CA328100 RCV001004473 |
764 | R>* | large_intestine Cystic fibrosis Variant assessed as Somatic; 4.964e-05 impact. Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001835955 RCV002442601 RCV000780135 rs1417904716 CA368980869 |
764 | R>Q | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
VAR_000215 RCV000577791 rs397508363 CA326790 |
766 | R>M | Cystic fibrosis CBAVD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001009457 CA368980912 rs1584812646 |
767 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858626 CA368980936 rs1379518832 RCV000985683 |
769 | V>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001009458 rs397508364 |
775 | H>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451171 rs748045283 COSM1084475 RCV001278581 |
775 | H>Y | endometrium Cystic fibrosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA326792 RCV000577388 RCV001831747 rs397508365 |
776 | S>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001363162 rs397508365 RCV000586306 RCV001835858 CA368980985 |
776 | S>L | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs397508368 CA326796 RCV001922461 |
781 | Q>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326798 RCV002260973 RCV000577085 rs397508369 RCV001844025 |
782 | N>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000046582 rs374946172 RCV001004474 RCV001826635 CA326800 |
785 | R>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002493202 RCV001825362 CA4451175 RCV000757080 RCV000695653 rs141880790 |
785 | R>Q | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001009467 rs1584812696 |
792 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001826636 RCV001004475 CA326807 RCV000780127 rs145449046 RCV000046586 |
792 | R>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002482909 rs145449046 RCV000999892 RCV001275770 RCV000724677 CA326806 VAR_000216 RCV002256006 |
792 | R>G | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis CBAVD; no effect on glycan maturation but decreased channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs369040061 CA4451178 RCV000757862 RCV001844234 |
792 | R>Q | Cystic fibrosis Variant assessed as Somatic; 5.752e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA368981104 rs1291965190 RCV001066354 |
796 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA260215 RCV002222358 rs138069616 RCV001339095 RCV000587025 RCV001831608 |
798 | P>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs397508372 RCV000577817 |
799 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368981119 RCV000668339 rs984281283 |
799 | Q>* | Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs397508373 VAR_000217 RCV000577537 CA326810 |
800 | A>G | Cystic fibrosis CBAVD; small decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001853982 RCV000588117 CA368981156 RCV001834842 rs1314080734 |
802 | L>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001836129 rs1792049314 RCV001193709 |
803 | T>S | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1792049376 RCV001263579 |
804 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001833752 rs1792049376 RCV002447039 RCV001194372 |
804 | E>K | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326811 RCV000577764 rs397508374 |
804 | E>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326813 RCV001588875 RCV001004476 rs397508375 RCV000577591 RCV001781374 RCV002228157 RCV001255509 |
806 | D>G | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000725433 RCV000313144 RCV001009483 rs1800103 RCV002257361 VAR_000218 CA260217 RCV000515401 RCV000197986 |
807 | I>M | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis CFTR-related disorders CBAVD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000538563 rs1554389471 CA368981212 |
807 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000190991 rs387906359 |
809 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263580 rs1457971953 |
809 | S>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410071 rs1057516236 |
810 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377447726 CA368981244 RCV001001123 RCV001056339 |
810 | R>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001831748 rs377447726 RCV000576938 CA326815 |
810 | R>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000664753 rs1554389478 |
811 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780167 CA4451182 rs778688276 RCV000757081 RCV001830656 RCV001785718 |
811 | R>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001993398 rs397508376 |
812 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576941 CA326818 rs397508377 RCV001831749 |
814 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001009464 rs1584812777 |
815 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA273034 rs672601316 RCV000149424 |
815 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009527 rs1584812778 |
817 | G>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781226 RCV000541753 RCV002490942 rs148604667 CA4451183 |
817 | G>V | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002496744 rs397515498 RCV001831811 RCV000056364 RCV001004477 |
818 | L>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830072 RCV001269212 rs1792051187 |
819 | E>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797045156 RCV001834714 RCV000551959 |
821 | S>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001200188 RCV001004478 rs397508378 RCV000056365 RCV002496712 CA328102 RCV001831750 |
822 | E>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_000219 rs397508378 CA326820 RCV000577213 COSM1312596 |
822 | E>K | Variant assessed as Somatic; impact. urinary_tract Cystic fibrosis Cystic fibrosis (cf) CF [NCI-TCGA, Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV001251351 CA4451185 RCV001835348 rs777667933 |
823 | E>D | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000577810 RCV001826637 rs397508380 RCV002477155 |
825 | N>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368981579 rs1398481391 RCV001275771 |
825 | N>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000757831 rs397508381 CA368981594 |
826 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM3632311 rs397508381 RCV001508589 VAR_000220 CA326824 RCV000577037 RCV001831751 RCV000781228 |
826 | E>K | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis breast Cystic fibrosis (cf) CFTR-related disorders thoracic sarcoidosis; no effect on glycan maturation and channel activity [NCI-TCGA, ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000667360 rs1554389486 |
827 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909018 CA325553 RCV000007577 |
827 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000410112 rs1057517276 |
828 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451188 rs759726447 RCV001834105 RCV001239879 |
828 | D>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000577412 CA326826 rs397508382 |
830 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001826638 rs397508387 CA345311 RCV001197557 RCV000056366 |
831 | E>* | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326832 rs397508388 RCV001009465 |
832 | C>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508389 RCV001009466 |
834 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001829532 RCV000542704 RCV001001015 RCV001509318 CA4451214 rs200735475 |
834 | F>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001009446 RCV001826639 rs397508389 RCV001004479 |
835 | D>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508391 RCV001009448 |
836 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002288550 RCV000825894 RCV000224075 RCV000046610 CA326836 rs201386642 |
836 | D>Y | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA326839 rs397508392 RCV000577406 |
841 | P>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001529697 COSM598556 RCV000056367 RCV000781236 rs397508393 CA328104 RCV001826640 |
846 | W>* | lung Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV001826430 RCV000007547 COSM598556 rs267606722 RCV001004480 CA325527 |
846 | W>* | lung Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
| VAR_080309 | 846 | W>del | CF [UniProt] | Yes | UniProt |
|
rs562851847 RCV002222639 RCV000811624 CA4451218 RCV001830774 |
847 | N>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001826641 RCV001009528 rs397508394 RCV000046615 CA326841 |
849 | Y>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306954 rs780811333 CA4451221 RCV001830235 |
849 | Y>C | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs757165481 RCV000701445 CA368983929 |
849 | Y>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001004481 COSM202016 RCV000007561 CA340645 rs121909012 RCV002476942 RCV001831532 |
851 | R>* | large_intestine Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
RCV001826642 rs397508395 RCV000577717 CA326845 |
851 | R>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4451222 rs397508395 RCV001828480 RCV000477326 RCV002496785 RCV000757088 |
851 | R>Q | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001833493 RCV000411629 rs1057517068 |
852 | Y>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1584813819 RCV001009529 CA368983949 |
852 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002257924 CA4451223 RCV001553621 RCV000672052 rs780187979 RCV001829874 |
853 | I>F | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000589065 CA4451224 RCV001273211 RCV000506158 rs780187979 |
853 | I>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577234 rs397508397 RCV001831752 RCV001646980 RCV001778690 RCV002483055 CA326848 |
855 | V>I | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA915945430 RCV000801560 RCV002477833 rs1584813846 RCV002261211 |
855 | V>I | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000672984 rs774507425 |
856 | H>L | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368983976 RCV000791900 rs1584813860 |
857 | K>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001825531 RCV000781289 rs1562908997 |
858 | S>missing | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000056368 rs397508399 RCV001027906 |
861 | F>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508400 RCV000046624 |
864 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576912 rs397508401 |
864 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508402 RCV000577006 CA326854 |
866 | C>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000587525 VAR_000221 CA325700 COSM1187416 RCV001824576 rs193922506 RCV000029498 |
866 | C>Y | lung Cystic fibrosis Cystic fibrosis (cf) CF [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA326859 rs397508404 CA368984044 RCV000855427 RCV001009508 |
867 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001829610 rs397508405 RCV000046631 |
868 | V>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1792100143 RCV001263581 |
873 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240834 rs1328356747 RCV001834132 |
876 | A>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1472821278 RCV000689191 CA368985923 RCV002265859 RCV001829906 RCV002493167 |
876 | A>V | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000545926 RCV001194373 rs761531223 CA4451251 RCV001829533 |
877 | S>A | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1584817344 RCV001009449 |
881 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554390864 RCV000673789 RCV001004483 |
882 | W>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001263582 rs1792246412 |
882 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576558 CA326877 rs397508413 RCV001826644 |
882 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001828251 RCV000322135 rs770359007 RCV001055355 CA4451266 |
887 | T>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002440580 CA4451269 rs61738523 RCV000734095 |
889 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA325590 RCV000007625 rs79633941 RCV000505859 RCV001831549 |
890 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001831753 RCV002496713 RCV000577280 RCV001797613 CA326882 rs397508417 |
890 | Q>R | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_080310 | 890 | Q>del | CF [UniProt] | Yes | UniProt |
|
RCV001830662 RCV000761477 CA4451271 rs766181463 RCV001248141 RCV002469282 |
891 | D>G | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1792256745 RCV001066117 |
895 | S>G | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000508371 rs201864483 RCV002257389 RCV000667642 CA326888 RCV001284478 RCV001265632 RCV001158765 |
895 | S>N | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders Breast neoplasm [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201864483 RCV001055324 RCV002505528 RCV002479190 RCV001158766 RCV001000698 CA4451273 |
895 | S>T | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4451274 RCV000671200 rs752617117 |
896 | T>I | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508420 RCV002453161 |
896 | T>MSTMS | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000149422 rs672601315 CA273030 |
900 | N>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508422 RCV000757863 CA326894 |
902 | S>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436725 RCV001158767 rs147297080 CA4451277 |
903 | Y>C | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003166628 RCV001290578 CA164960001 rs886186687 RCV001830112 |
905 | V>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000668207 CA326896 rs397508423 |
907 | I>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000577705 rs369521395 RCV001009494 CA326898 |
908 | T>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001826646 rs121909034 RCV000046665 CA326900 RCV001009512 RCV002256032 |
912 | S>* | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000007661 VAR_000222 RCV001158768 RCV000506704 RCV000007626 RCV002255257 rs121909034 RCV000586236 CA325592 |
912 | S>L | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002282249 CA368986531 RCV000590081 rs1554390984 |
912 | S>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001826435 rs121908788 RCV002490335 CA325544 RCV000007569 |
913 | Y>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831754 CA326903 RCV000046670 rs149790377 RCV001004486 RCV001509321 |
913 | Y>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA325529 VAR_000223 RCV001004485 rs121909008 RCV000007548 |
913 | Y>C | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs770502501 RCV000808032 CA4451282 |
915 | V>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_000224 CA326911 RCV001509322 rs397508428 RCV000577097 |
917 | Y>C | Variant assessed as Somatic; impact. Cystic fibrosis CF [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001061525 rs1267646551 |
918 | I>F | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326912 RCV000577571 rs397508429 |
918 | I>M | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368986670 rs1408746819 RCV000821361 |
919 | Y>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000734202 RCV000577265 RCV001826647 RCV002288551 RCV002477156 RCV000781290 rs397508430 CA326914 |
919 | Y>C | Bronchiectasis with or without elevated sweat chloride 1 Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001830421 RCV001340326 rs1033530699 CA164960117 |
919 | Y>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001646981 CA326918 RCV000577094 RCV000723423 rs373885282 |
920 | V>L | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000781291 RCV000765926 CA326916 rs373885282 RCV000577642 RCV000731224 |
920 | V>M | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001826513 rs193922508 COSM1699245 CA260220 RCV000029502 |
921 | G>E | Variant assessed as Somatic; 0.0 impact. skin Cystic fibrosis CFTR-related disorders [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000046684 RCV001831756 rs397508431 |
922 | V>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1792259336 RCV001348749 |
922 | V>I | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922509 RCV000029503 CA260222 |
923 | A>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201759207 RCV000685057 CA368986725 RCV001830480 RCV000762478 |
924 | D>H | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577296 RCV001255211 rs201759207 CA326923 RCV001831757 RCV000587040 |
924 | D>N | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508433 RCV000577620 RCV000576969 |
926 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001812252 rs757410423 CA4451286 RCV001209202 RCV001836147 |
926 | L>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001826648 rs397508435 RCV000056371 CA328107 |
927 | L>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397508436 RCV000577327 RCV001009477 CA326927 RCV001588877 RCV000595350 |
933 | R>G | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA326929 rs397508437 RCV000577697 |
933 | R>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001342757 RCV001831090 CA4451288 rs750655055 |
934 | G>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780528577 CA4451290 RCV000590465 RCV001829622 RCV002476274 |
936 | P>T | Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004488 RCV000029504 rs193922510 RCV000759760 |
938 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757801 rs1562911661 |
938 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000730038 RCV002284180 VAR_080311 CA260225 RCV000506921 RCV000029505 rs193922511 RCV001378467 |
938 | V>G | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA4451292 RCV001192434 RCV000544560 RCV001205295 CA4451291 RCV001828592 RCV001284614 RCV002481754 rs749784731 |
938 | V>L | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA326933 RCV000668898 rs397508439 |
939 | H>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA326935 RCV001290522 RCV002433535 RCV001290521 rs397508440 |
939 | H>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762844777 RCV001829871 RCV000671794 RCV002493108 |
941 | L>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831758 RCV000046696 rs397508441 |
942 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660828 RCV001027913 rs397508442 RCV001009364 RCV001004489 RCV000723381 RCV000056372 CA345314 |
945 | S>L | Variant assessed as Somatic; 0.0003234 impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397508443 RCV001194340 RCV001825625 RCV000812152 CA368987156 |
946 | K>E | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000577071 RCV001290521 rs397508444 RCV001290523 RCV001835661 CA326942 |
949 | H>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508444 CA326940 RCV000577619 |
949 | H>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_000225 rs121909035 CA325595 RCV000007628 |
949 | H>Y | Cystic fibrosis Cystic fibrosis (cf) CF; decrease in bicarbonate transport; no effect on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1057517032 RCV000409306 |
952 | M>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220157 RCV000577274 CA4451300 RCV001009476 VAR_000226 CA326946 RCV001194371 RCV000588974 RCV000732881 rs151048781 RCV000733156 RCV001002222 |
952 | M>I | CFTR-related disorders Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CF and CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs142773283 CA326944 RCV000046702 RCV000587345 RCV001255220 RCV000624171 |
952 | M>T | Cystic fibrosis Inborn genetic diseases Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508445 RCV000046704 RCV001826649 |
953 | L>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577587 CA326948 RCV001509327 rs397508446 |
954 | H>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1584817978 CA368987390 RCV002319622 |
955 | S>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508447 RCV001831759 RCV000985685 RCV000781227 RCV000056373 |
959 | A>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326950 VAR_080312 RCV000577390 rs397508448 |
959 | A>V | Cystic fibrosis Cystic fibrosis (cf) CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000757814 rs1562911739 |
960 | P>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000586370 RCV001834843 RCV001867907 CA4451305 rs185397588 |
960 | P>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs769377991 CA4451306 RCV001854078 RCV000597750 |
961 | M>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001785712 RCV000729543 rs779569793 CA4451307 RCV000781279 RCV001825454 |
965 | N>K | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000046710 rs397508451 RCV001831760 |
966 | T>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327945 rs1800110 RCV001762431 RCV000206091 RCV000664323 VAR_009905 CA350158 RCV001160121 RCV000587447 |
967 | L>S | Infertility Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs936934088 CA164960406 RCV001250518 |
969 | A>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001781321 RCV000046718 RCV001002487 RCV001004490 rs386134230 CA326964 RCV002228059 |
970 | G>D | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508453 CA328109 RCV000056374 RCV001826650 |
970 | G>R | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002247434 rs397508453 RCV000673430 CA326958 |
970 | G>S | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000671213 rs1554391454 |
972 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA326967 rs397508459 RCV000577125 RCV001193703 |
973 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508460 CA326971 RCV002247435 RCV000577431 |
973 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009445 rs1584819340 |
975 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001830158 RCV001299231 rs137975784 CA4451332 |
977 | S>A | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141033578 RCV001004491 RCV002228325 RCV000660775 VAR_080313 RCV000577087 CA326975 RCV001811323 RCV001009389 RCV002247436 |
977 | S>F | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV000577747 CA326973 rs137975784 |
977 | S>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA325702 rs193922514 RCV000029510 |
978 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508462 RCV000577756 CA326977 RCV001811324 RCV000586469 |
979 | D>A | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs397508462 RCV001175582 RCV001833736 CA368989039 |
979 | D>G | Cystic fibrosis (cf) CFTR-related disorders [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001009520 RCV000577309 CA326979 rs397508462 |
979 | D>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001009475 RCV003137585 CA326981 RCV000586046 RCV001001213 rs397508463 RCV000577032 |
980 | I>K | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001834844 rs1554391473 CA368989049 RCV002497233 RCV000588175 |
980 | I>V | Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001160123 RCV002307615 RCV000792563 CA164962463 rs748430234 |
982 | I>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764644021 RCV001306874 RCV001835495 CA4451333 |
984 | D>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4451335 RCV001160124 rs755691985 |
985 | D>E | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001246537 rs1792306616 RCV001835271 |
988 | P>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000294886 rs370181570 RCV003114513 CA4451340 RCV001095180 |
991 | I>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1043006335 CA368989190 RCV000693866 |
992 | F>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA368989201 rs758250836 RCV001834845 RCV000589988 CA4451341 RCV002506399 |
992 | F>L | Bronchiectasis with or without elevated sweat chloride 1 CFTR-related disorders [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA326993 rs397508468 RCV003155058 RCV000577451 |
993 | D>Y | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA326995 rs397508469 RCV000855590 RCV000577330 RCV000586753 RCV001831763 |
994 | F>C | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001827193 rs373561883 CA4451343 RCV001824914 RCV001048747 |
994 | F>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000666274 rs1554391491 |
996 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA090907 VAR_000227 RCV000046745 rs1800111 RCV000078991 RCV000583195 RCV001801367 RCV001327946 RCV000243402 RCV001642202 RCV000007651 RCV000007650 RCV001009470 |
997 | L>F | Hypertrypsinemia, neonatal, susceptibility to Pancreatitis, idiopathic, susceptibility to Infertility Pancreatitis Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF and CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057516415 RCV000412107 |
998 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508472 RCV000046747 |
999 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576971 rs397508474 |
1000 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577236 rs397508475 |
1000 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000046752 RCV001831766 rs397508477 |
1001 | V>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000735090 CA164965069 rs193922731 RCV000757864 |
1001 | V>M | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA327008 rs397508478 RCV000577646 |
1003 | G>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs55803548 CA327010 RCV000577771 |
1003 | G>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000757808 rs1562914082 |
1004 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562914072 RCV000785631 |
1004 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508479 RCV000577028 CA327012 VAR_000228 |
1005 | I>R | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
CA368990397 rs1562914085 RCV000691872 |
1005 | I>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1792366769 RCV001039049 |
1006 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577175 rs397508480 RCV003159093 RCV001582546 CA327013 RCV001004287 VAR_000229 |
1006 | A>E | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000046758 rs397508482 |
1008 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508481 RCV000577556 |
1008 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508483 CA327016 RCV000577813 |
1008 | V>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000175401 rs184724618 CA241139 RCV001163492 RCV000671928 RCV000780124 |
1009 | A>T | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000757834 rs1562914107 CA368990512 |
1011 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001835638 CA260231 RCV002482910 RCV001811200 rs193922516 RCV000029514 RCV001241203 |
1013 | P>H | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577169 RCV001831767 VAR_000230 CA327022 rs193922516 RCV001255508 |
1013 | P>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001828605 rs978796108 RCV002436767 CA164965144 RCV001194368 |
1013 | P>S | Variant assessed as Somatic; impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs121908781 RCV000577781 RCV001826653 RCV000046765 RCV001835662 |
1014 | Y>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149279509 RCV000152997 CA233700 RCV001163493 RCV002504942 RCV000987964 RCV000586855 |
1014 | Y>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA327027 RCV001004288 RCV000577048 RCV001174827 rs397508488 |
1016 | F>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000536207 CA368990667 rs1554392023 |
1021 | P>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327033 RCV000577484 RCV001826654 rs397508491 |
1021 | P>S | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000665519 CA4451370 rs397508491 |
1021 | P>T | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs144441835 RCV001828587 RCV001873653 RCV001174828 |
1022 | V>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576984 rs1554392027 |
1022 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144441835 RCV001309350 CA4451371 RCV001835519 |
1022 | V>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001004289 rs121908767 RCV001826528 RCV000046775 RCV000757083 |
1023 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009407 rs397508493 |
1023 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226278 CA4451372 rs756219310 RCV000590216 |
1023 | I>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_080314 | 1023 | I>del | CF; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000785641 rs1800112 RCV000078993 RCV000224628 VAR_080315 CA146697 RCV000029515 RCV001163494 |
1027 | I>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577801 VAR_000231 rs200553511 CA368990746 CA327040 |
1028 | M>I | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001826655 CA327038 RCV001785468 rs397508494 RCV000755919 |
1028 | M>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000029516 RCV001009474 VAR_080316 rs144055758 RCV001642235 RCV000591587 RCV001800316 CA325705 RCV001004290 |
1032 | Y>C | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP |
|
rs1554392043 RCV002325130 CA368990783 RCV000596563 |
1034 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1792369943 RCV001245035 RCV001829945 |
1034 | L>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831769 rs397508496 CA327043 RCV000046781 |
1035 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA368990798 RCV000757881 rs397508498 RCV001004292 |
1036 | T>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002254276 RCV001004291 RCV000781270 CA327046 RCV000577654 rs397508498 |
1036 | T>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1562914200 RCV000757835 CA368990802 |
1037 | S>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1469768894 RCV000757865 |
1039 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368990821 rs1562914212 RCV002290003 RCV000757866 |
1040 | L>F | Cystic fibrosis Hereditary pancreatitis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4451379 RCV000508215 RCV001829447 RCV000588700 RCV001785649 rs769448889 |
1041 | K>Q | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000757867 rs1562914220 CA368990830 |
1041 | K>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327049 RCV000576454 RCV001826656 rs397508500 |
1042 | Q>* | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA164965384 RCV001193704 RCV001828600 rs1026006397 |
1043 | L>Q | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA368990856 RCV000987965 rs1584821736 |
1045 | S>F | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001174678 rs1584821736 |
1045 | S>Y | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000307800 CA10604591 rs397508504 RCV002487210 RCV000757868 |
1047 | G>C | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327056 rs397508504 RCV000577601 |
1047 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001828768 RCV001221733 rs397508504 |
1047 | G>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000590499 RCV001163495 rs374403559 RCV002483566 RCV000671328 CA4451403 |
1051 | I>V | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000770985 RCV000046799 RCV001004295 VAR_000232 RCV001009471 RCV000224816 rs150212784 RCV000660777 RCV000999857 CA327067 |
1052 | F>V | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000587271 RCV001800353 RCV000046800 rs140883683 RCV001826658 CA327068 |
1053 | T>I | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1792386620 RCV001831073 RCV001341600 |
1053 | T>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007642 RCV000506268 rs387906377 |
1054 | H>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508510 RCV000781263 RCV000046801 CA327070 RCV001826659 |
1054 | H>D | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001834984 CA368991868 rs1417435640 RCV000630455 |
1054 | H>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397508510 RCV001056407 CA368991857 |
1054 | H>Y | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001280927 RCV001826660 RCV000671075 RCV000402359 rs397508511 CA327072 |
1057 | T>A | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327074 RCV000577185 rs397508512 |
1059 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577033 RCV000660829 CA327078 rs397508513 |
1060 | K>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000046807 VAR_000233 RCV000078994 RCV001004296 CA221023 RCV000999884 RCV001831770 rs142394380 |
1061 | G>R | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP TOPMed dbSNP |
|
rs387906366 RCV000007581 |
1063 | W>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757836 rs1562914641 CA368992007 |
1063 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327080 RCV000577785 rs397508514 |
1063 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080317 | 1063 | W>del | CF [UniProt] | Yes | UniProt |
|
rs1584822237 RCV001009405 |
1065 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909036 CA325596 RCV001831550 RCV001004297 RCV000007629 VAR_000234 RCV000311326 |
1065 | L>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_000235 RCV000577502 rs121909036 CA327084 |
1065 | L>R | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000723839 VAR_000236 RCV001762037 RCV001831541 RCV000007582 CA325558 rs78194216 RCV001004298 RCV001001063 RCV002496299 |
1066 | R>C | Bronchiectasis with or without elevated sweat chloride 1 Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002496297 rs121909019 RCV001004299 CA325555 VAR_000237 RCV000592350 RCV001831538 RCV000007578 RCV000506781 |
1066 | R>H | Bronchiectasis with or without elevated sweat chloride 1 Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121909019 VAR_000238 CA327087 RCV000577722 |
1066 | R>L | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs78194216 RCV000577509 CA327085 |
1066 | R>S | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327093 rs1800114 RCV000665908 |
1067 | A>G | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs121909020 CA327088 RCV000675030 |
1067 | A>P | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV001831539 RCV000007579 CA221024 rs121909020 VAR_000239 RCV000078995 RCV000660774 RCV000723610 |
1067 | A>T | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP dbSNP gnomAD |
|
rs1800114 RCV000670817 VAR_000240 RCV002228158 CA327095 RCV000586398 RCV001175335 |
1067 | A>V | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM342000 RCV000506564 RCV001375487 RCV000046823 CA327097 VAR_080318 RCV001009473 rs200321110 RCV002226453 |
1069 | G>R | lung oesophagus Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_000242 RCV000577217 rs78769542 CA327100 |
1070 | R>P | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000046825 RCV000785639 RCV001004301 RCV002228060 RCV000660859 RCV001580449 VAR_000241 rs78769542 RCV001642236 CA275095 RCV000724647 RCV001009383 |
1070 | R>Q | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF; decrease in bicarbonate transport; no effect on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA327099 RCV000219441 RCV002228159 RCV000660792 RCV002221194 VAR_011564 RCV001731338 RCV000757802 RCV000507471 rs202179988 RCV001009384 |
1070 | R>W | Cystic fibrosis Congenital bilateral absence of vas deferens Cystic fibrosis (cf) CFTR-related disorders CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001009404 COSM218902 rs397508517 CA327101 |
1071 | Q>* | pancreas Variant assessed as Somatic; impact. Cystic fibrosis [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs121909037 CA325597 VAR_000243 RCV000007630 |
1071 | Q>P | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_000244 | 1072 | P>L | CF [UniProt] | Yes | UniProt |
|
RCV002409340 RCV001832345 rs1584822281 CA368992109 |
1072 | P>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000576856 RCV001269844 rs768963919 |
1073 | Y>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327103 RCV002228160 RCV000046829 RCV000660789 rs186045772 RCV001004302 RCV000522824 |
1074 | F>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs397508518 RCV003114232 RCV000577220 |
1077 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139304906 RCV001826661 RCV000056377 CA328111 RCV001004303 VAR_000245 RCV001508221 |
1077 | L>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs779177972 RCV000757837 |
1078 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451411 rs766126240 RCV000706586 RCV000616712 RCV001284617 |
1080 | K>Q | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327110 RCV000577507 rs397508521 |
1081 | A>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368992248 rs1584822326 RCV001007617 |
1083 | N>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA325598 VAR_000246 rs79635528 RCV000007631 |
1085 | H>R | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA368992280 rs373043500 RCV001828546 RCV001091001 RCV001247914 |
1086 | T>A | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000665381 CA327112 rs77958296 |
1086 | T>I | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612278 rs373043500 RCV002481463 RCV001828482 RCV000592986 RCV000469743 |
1086 | T>S | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000577588 rs397508524 |
1088 | N>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577535 CA327116 rs397508523 |
1088 | N>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508525 RCV000577738 |
1089 | W>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001004304 RCV000507617 RCV000763581 rs78802634 CA340653 RCV000007615 RCV001027902 |
1089 | W>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001263867 rs150020260 |
1089 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000766815 COSM1548064 RCV000498926 RCV001275773 CA4451413 rs150020260 |
1089 | W>C | lung Cystic fibrosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA269811 RCV000780122 RCV001004305 CA269813 RCV000056379 RCV000056380 RCV000522700 RCV000763157 RCV001831621 RCV000781257 RCV001831551 rs121908761 COSM4153785 RCV001009514 |
1092 | Y>* | ovary Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4451416 RCV000594116 RCV002325128 rs764434414 |
1092 | Y>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001829623 RCV002476275 rs376968326 CA4451415 RCV000779527 RCV000588214 RCV001293419 |
1092 | Y>H | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_080319 | 1092 | Y>del | CF [UniProt] | Yes | UniProt |
|
CA327121 rs397508527 RCV000577018 |
1093 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4451418 rs201591901 RCV001079628 RCV000759038 COSM1200906 |
1097 | R>C | large_intestine Cystic fibrosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002284600 rs397508534 |
1098 | W>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327131 RCV001831771 rs397508532 RCV001009509 RCV000046855 |
1098 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000191002 CA276112 RCV001828014 rs397508533 |
1098 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508533 RCV000757800 CA368992416 RCV001004306 CA327132 RCV000576929 RCV002281550 |
1098 | W>C | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA368992407 rs397508531 RCV001832347 RCV002434398 |
1098 | W>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397508531 CA327130 RCV000577522 VAR_000247 RCV000985688 |
1098 | W>R | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA4451420 RCV001004492 RCV000668621 RCV000586297 rs747754623 |
1099 | F>L | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327135 RCV001831772 RCV000577192 rs397508535 RCV001004493 |
1100 | Q>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001057363 rs777445862 CA4451421 RCV002479350 |
1101 | M>I | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001831623 RCV000781258 RCV000032712 rs36210737 RCV002496491 VAR_000248 RCV001004494 RCV000757078 CA221025 |
1101 | M>K | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs36210737 RCV000508206 RCV000785632 CA327137 VAR_011565 |
1101 | M>R | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001826662 CA327138 rs397508536 RCV000046861 |
1102 | R>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA328113 COSM1447501 rs397508538 RCV000056381 RCV001831774 |
1104 | E>* | large_intestine Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs397508540 RCV000577320 |
1105 | M>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1792392768 RCV001827229 RCV001038825 |
1105 | M>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327142 rs397508539 RCV000577558 |
1105 | M>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1584822486 CA368992523 RCV000985689 RCV001048194 RCV001004495 RCV001832299 |
1107 | F>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508542 RCV001811325 RCV000577410 CA327147 RCV001826663 RCV002509190 |
1108 | V>L | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554392282 RCV000667426 |
1109 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759394109 RCV001825525 CA4451424 RCV000780172 RCV002536863 |
1109 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000757855 rs1562914829 |
1111 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002560153 RCV001192460 rs1792393459 |
1112 | I>S | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757838 rs1562914838 |
1115 | T>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751853765 CA4451429 RCV001275774 |
1117 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327150 rs146521846 RCV000576956 |
1118 | S>C | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000577360 CA327152 RCV002281551 RCV001781376 rs146521846 |
1118 | S>F | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA368992613 RCV001830670 rs1562914851 RCV000780146 |
1119 | I>T | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368992630 RCV001835970 RCV000806943 rs1584822533 |
1122 | T>A | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554392295 RCV000667596 |
1122 | T>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508546 RCV000577544 CA327157 |
1123 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577000 RCV002483056 rs397508548 RCV001804780 |
1124 | E>missing | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002499154 rs1434504483 CA368993314 RCV000666651 RCV001829836 |
1127 | G>E | Bronchiectasis with or without elevated sweat chloride 1 Variant assessed as Somatic; impact. Cystic fibrosis CFTR-related disorders [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001731142 CA327162 rs397508549 RCV001832867 |
1128 | R>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002518103 RCV003114457 CA10606586 rs397508549 RCV000301584 |
1128 | R>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397508550 RCV000577261 RCV002483057 RCV001508224 CA327164 |
1130 | G>A | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1005269197 RCV001250131 |
1130 | G>R | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451453 rs755472768 RCV001527043 RCV001832348 RCV001785767 |
1131 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009406 rs397508552 |
1134 | T>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1792456313 RCV001058685 |
1135 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755968404 RCV001828777 CA4451455 RCV001223100 |
1136 | A>T | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001001122 RCV001830616 RCV001785713 CA368993447 rs1562916044 RCV000731657 |
1136 | A>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327172 RCV000577123 rs397508555 |
1137 | M>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4451456 rs397508555 RCV000669933 |
1137 | M>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002223781 VAR_000249 RCV000577660 CA327169 rs397508553 RCV000590826 RCV001327955 |
1137 | M>V | Infertility Cystic fibrosis CF; decreases channel activity; no visible effect on protein maturation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397508556 RCV001857385 RCV002281552 RCV000508519 CA327174 RCV000727469 |
1139 | I>V | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001314587 CA368993516 rs1554392775 RCV000506778 RCV001834632 |
1140 | M>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508557 RCV001009521 VAR_000250 RCV000577383 |
1140 | M>missing | CF; abolishes channel activity; no visible effect on protein maturation Cystic fibrosis [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
CA327178 rs397508558 RCV000576944 |
1140 | M>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508557 VAR_000250 |
1140 | M>del | CF; abolishes channel activity; no visible effect on protein maturation [UniProt] | Yes |
UniProt dbSNP |
|
rs748284173 RCV001813079 CA4451458 RCV001830088 |
1141 | S>R | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC gnomAD |
|
rs397508559 RCV000757816 |
1142 | T>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508560 CA327181 RCV001389828 RCV001826664 |
1144 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508561 RCV000576362 RCV001811326 CA327183 RCV001826665 |
1145 | W>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327185 RCV000577262 rs397508562 |
1147 | V>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508565 RCV000670179 RCV001532974 RCV001826666 RCV001197964 CA327191 |
1148 | N>K | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1792458131 RCV001058294 |
1150 | S>T | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368993684 rs1584824269 RCV000810218 |
1151 | I>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000046895 RCV001283745 VAR_000251 RCV000660854 COSM3257317 RCV000325638 RCV001642237 RCV001334484 RCV001004498 RCV001009365 rs75541969 CA201825 RCV001826514 |
1152 | D>H | Male infertility large_intestine Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF and CBAVD; decreases channel activity; no visible effect on protein maturation [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_080320 CA327194 RCV000577089 rs397508567 RCV001009502 RCV001508225 |
1153 | V>E | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA164968930 rs143120209 RCV000823843 RCV001000983 RCV001830823 |
1153 | V>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs397508569 CA327198 RCV000577763 RCV001009503 |
1154 | D>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397508568 RCV001200893 |
1154 | D>N | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508568 RCV000671150 CA327196 |
1154 | D>Y | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000538933 CA4451462 RCV001163786 rs139729994 RCV002509422 RCV003144315 |
1156 | L>F | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000763158 RCV001831535 RCV000007564 RCV001004499 rs79850223 RCV000579152 COSM175319 CA325537 |
1158 | R>* | Bronchiectasis with or without elevated sweat chloride 1 Variant assessed as Somatic; 0.0 impact. large_intestine Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs763401376 CA4451483 RCV000818635 |
1158 | R>Q | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397508573 CA327210 RCV000577354 |
1159 | S>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000780173 rs397508572 RCV000785634 CA327208 |
1159 | S>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508574 CA327212 RCV000577699 |
1161 | S>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs74767530 RCV001831531 RCV000780138 RCV001004500 RCV000508142 CA340642 RCV002504763 RCV000007557 |
1162 | R>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000462037 RCV001640482 CA4451484 RCV001009501 RCV000248703 VAR_000252 RCV000726998 RCV001764230 rs1800120 |
1162 | R>L | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000732689 RCV002265847 CA4451485 RCV000671007 rs1800120 RCV002507173 |
1162 | R>Q | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_080321 | 1162 | R>del | CF [UniProt] | Yes | UniProt |
|
RCV000577078 rs397508575 |
1163 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410780 rs1057516970 |
1165 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007652 rs387906379 |
1165 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753508195 RCV001067922 |
1165 | K>T | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508577 CA327215 RCV000577397 |
1166 | F>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1792670307 RCV001339075 |
1166 | F>L | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150326506 RCV002453356 CA327219 RCV000592921 |
1168 | D>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1792670534 RCV001830170 RCV001300237 |
1170 | P>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451489 RCV000594547 RCV002491175 RCV001245034 rs368393738 RCV001834866 |
1173 | G>S | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065261 rs137875514 CA4451490 RCV001833635 |
1174 | K>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000029523 RCV000723840 rs78984783 RCV001831611 RCV001004501 |
1177 | K>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508579 RCV001835665 RCV000577604 RCV000757086 |
1177 | K>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577595 rs397508578 CA327223 |
1177 | K>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1057516609 RCV000411279 CA16041137 |
1178 | S>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121908782 RCV001828369 RCV000409738 |
1179 | T>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906378 RCV000007643 RCV001826449 |
1179 | T>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193676 rs397508580 |
1180 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215372 rs1792671655 |
1181 | P>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852981 rs397508581 CA327228 RCV000781268 |
1182 | Y>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508582 CA327230 RCV002284587 |
1186 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA164976575 RCV001027916 RCV001224092 rs1036123285 |
1188 | S>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1562919371 RCV000757840 |
1190 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757089 CA368996456 rs1359962349 RCV001825495 RCV002458358 CA368996452 |
1191 | M>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
RCV001215270 rs1792672546 RCV001828715 |
1192 | I>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA328116 RCV000056383 RCV001831711 rs121908763 COSM1084479 RCV001263868 RCV002490585 |
1196 | S>* | Bronchiectasis with or without elevated sweat chloride 1 endometrium Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Cosmic, Ensembl] | Yes |
ClinVar dbSNP ClinGen cosmic curated ExAC gnomAD |
|
rs397508585 RCV000577115 |
1197 | H>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001007582 RCV000780157 rs765133036 CA4451503 |
1197 | H>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001340329 CA4451502 rs765133036 RCV001830422 |
1197 | H>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001830521 rs576710089 RCV000694053 CA4451504 RCV001811447 |
1198 | V>M | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001009401 rs1584830149 |
1200 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009402 rs1584830154 |
1200 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_080322 | 1200 | K>E | CF; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1182767623 CA368997126 RCV001825523 RCV000780143 |
1201 | D>Y | Variant assessed as Somatic; 0.0 impact. CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs397508587 RCV000046933 RCV001831776 |
1202 | D>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831777 CA233702 RCV000589513 RCV000757853 rs75647395 |
1203 | I>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
CA221029 RCV001826668 rs121908765 RCV001009526 RCV000056384 RCV000781267 RCV000790735 |
1204 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000007633 RCV001831552 rs121908764 CA325599 |
1204 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080323 | 1204 | W>del | CF [UniProt] | Yes | UniProt |
|
RCV001009399 RCV001009531 rs397508588 RCV000577418 CA327242 CA327240 |
1206 | S>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs35396083 RCV001009400 |
1208 | G>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577425 RCV001826669 rs397508589 |
1208 | G>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451508 RCV000665155 RCV002254303 rs746103666 |
1208 | G>D | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4451510 RCV000800129 rs151264397 |
1210 | M>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001834635 RCV000508248 rs151264397 CA164976676 |
1210 | M>V | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1584830230 CA368997308 RCV000813576 |
1214 | D>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1792675407 RCV001278583 |
1214 | D>V | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451511 RCV000587924 RCV002490850 RCV000797225 rs749662161 RCV000999841 |
1217 | A>V | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001831526 RCV000007544 rs121908811 RCV001004502 |
1220 | T>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000253 RCV000589624 rs1800123 CA254115 RCV000007635 |
1220 | T>I | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001058456 RCV001827368 CA368997403 RCV002479355 rs1320914611 |
1223 | G>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4451513 RCV001829624 RCV000588038 rs371475225 RCV001785673 RCV000855591 |
1224 | N>K | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
CA4451514 rs770358073 RCV001833861 RCV001212579 |
1225 | A>V | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508593 RCV000577748 RCV001831778 CA327251 RCV001844027 |
1227 | L>S | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001263869 rs759116351 |
1228 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368997461 RCV000781284 rs759116351 RCV001825530 |
1228 | E>K | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001507712 RCV001785806 CA4451515 rs759116351 RCV001835361 |
1228 | E>Q | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000029526 rs77035409 |
1231 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1792676456 RCV001307789 |
1231 | S>P | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_000254 RCV001831553 rs75389940 RCV000007636 CA325601 RCV001269696 |
1234 | I>V | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_000255 rs34911792 CA090908 RCV001642238 RCV001163789 RCV000079000 RCV001801912 RCV000755234 RCV000029527 |
1235 | S>R | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000735183 CA4451518 RCV002507314 RCV001830647 rs751474685 RCV000796931 |
1237 | G>D | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA368997583 RCV000674320 rs1554394076 |
1237 | G>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007596 CA325566 rs121908766 |
1238 | Q>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000674638 CA327253 rs397508594 RCV000985693 |
1238 | Q>R | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000577207 rs397508598 CA327262 |
1240 | V>G | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA368974444 rs1562923164 RCV000757841 |
1243 | L>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000763160 CA328120 rs267606723 VAR_000256 RCV000056386 RCV000211150 RCV001831779 RCV001004504 RCV002247437 |
1244 | G>E | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA327264 rs397508599 RCV001387159 |
1244 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007661 RCV000577733 CA327266 rs267606723 |
1244 | G>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001811328 rs397508600 RCV002281555 CA327268 RCV000668850 |
1246 | T>I | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327270 RCV000757796 CA368974490 rs397508601 |
1247 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV000007637 CA325602 rs121909040 VAR_000257 |
1249 | G>E | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000577065 CA368974518 RCV001826671 rs397508602 RCV000757851 CA327272 |
1249 | G>R | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs797045159 RCV001833134 RCV002247617 RCV000191001 |
1250 | K>missing | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1584836961 RCV000793319 |
1250 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001831554 rs121908784 RCV000755920 RCV001004505 RCV000007653 |
1250 | K>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007638 CA325603 RCV001731144 rs74503330 RCV000211301 VAR_000258 RCV000506301 RCV000780175 RCV001826447 |
1251 | S>N | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs397508603 RCV000577768 CA327276 |
1252 | T>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001004506 rs397508604 CA327280 RCV001826672 RCV000046973 |
1254 | L>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs768411899 RCV001283968 RCV001245313 CA4451542 RCV001836235 |
1254 | L>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000781247 RCV000007545 rs76649725 CA325525 RCV001831527 COSM598553 RCV001810834 |
1255 | S>* | lung Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP dbSNP gnomAD |
|
RCV000577299 rs76649725 CA327282 |
1255 | S>L | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP NCI-TCGA dbSNP gnomAD |
|
RCV002247264 RCV001787320 VAR_000259 RCV000007613 CA325580 rs121909041 |
1255 | S>P | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001347155 rs773852510 |
1256 | A>G | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451543 RCV001272365 RCV000588431 rs773852510 |
1256 | A>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA327286 rs397508607 RCV000046979 |
1257 | F>L | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000007598 rs387906370 |
1258 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000046980 RCV001004507 rs121908789 RCV001530038 RCV001826531 |
1258 | L>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577419 rs397508610 |
1261 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554395363 RCV000674404 CA368974865 |
1263 | T>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554395370 RCV001042888 |
1265 | G>E | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000664824 RCV000594452 rs1554395370 CA368974979 |
1265 | G>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001004508 rs1584837090 CA368974987 |
1266 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4451547 RCV002535667 rs766370233 RCV000780166 |
1268 | Q>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4451550 RCV001830801 RCV000820340 rs1800129 |
1269 | I>M | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs1562923253 CA368975073 RCV000785635 |
1269 | I>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000507233 rs763843966 RCV001844181 |
1270 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001255580 VAR_000260 RCV000480239 CA254112 RCV000046985 rs11971167 RCV000587433 RCV000007584 RCV000176372 RCV001158873 |
1270 | D>N | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF and CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA242298 rs752834717 RCV001826892 RCV000589147 RCV001320588 |
1272 | V>E | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000577251 rs397508612 |
1273 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA327299 rs397508613 RCV000577787 RCV001826673 |
1274 | W>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577107 rs397508614 |
1276 | S>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368975369 RCV002535288 rs1286786026 RCV000732698 |
1279 | L>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001009419 CA368975391 rs1584837173 |
1280 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577368 CA327302 rs397508615 |
1281 | Q>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA4451555 rs752127256 RCV000530649 |
1281 | Q>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001263870 rs1792935619 |
1282 | W>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340638 RCV002228015 rs77010898 RCV002255994 RCV001004509 RCV000763161 RCV000271658 RCV000623012 RCV000007549 RCV000780159 RCV001731145 |
1282 | W>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Inborn genetic diseases Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001175407 rs77010898 RCV000734691 RCV001785716 RCV001830642 CA4451556 |
1282 | W>C | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508616 RCV000577082 CA327305 |
1282 | W>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508616 VAR_000261 CA327304 RCV000577632 |
1282 | W>R | Cystic fibrosis CF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_080324 | 1282 | W>del | CF and CBAVD [UniProt] | Yes | UniProt |
|
RCV000506393 CA327307 RCV001826674 RCV002354241 rs77902683 |
1283 | R>K | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000007587 CA325559 VAR_000262 RCV001831542 RCV001731145 rs77902683 |
1283 | R>M | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001247277 rs1792935893 RCV001830007 |
1283 | R>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517404 RCV000412356 |
1285 | A>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535130 RCV000729739 CA164947691 rs868174013 |
1285 | A>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001507714 RCV000585919 rs397508617 CA327309 RCV000577447 |
1285 | A>V | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs397508618 RCV000577182 |
1286 | F>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175408 RCV002355138 rs121909028 |
1286 | F>C | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007604 VAR_000263 rs121909028 CA325574 |
1286 | F>S | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001213927 rs1792936385 |
1287 | G>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068414 rs1792936385 |
1287 | G>R | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508619 CA327312 RCV000577136 |
1290 | P>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4451560 rs397508619 RCV002360901 RCV000781241 |
1290 | P>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000577232 CA327314 rs397508620 |
1291 | Q>* | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000780123 VAR_000264 CA325548 RCV002228016 RCV000007572 rs121909015 |
1291 | Q>H | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_000265 rs397508621 RCV001009375 RCV000506407 CA327316 RCV000664625 |
1291 | Q>R | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000667886 rs769931559 RCV001835084 RCV002477491 CA4451578 |
1293 | V>I | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001826675 RCV000047016 rs397508630 |
1295 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1793108213 RCV001260428 RCV001836252 |
1295 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906373 RCV000047015 RCV001831781 |
1295 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000507350 RCV000047018 rs121908808 RCV001826676 RCV001004511 |
1297 | S>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508633 RCV001831783 RCV000577151 |
1298 | G>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000029533 rs193922522 CA325708 |
1298 | G>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002284434 RCV000729857 rs193922522 CA164952592 |
1298 | G>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001830645 CA4451579 RCV000735088 RCV000804511 rs750604866 |
1299 | T>A | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577585 RCV001831784 RCV001507716 rs397508634 RCV001002282 CA327332 |
1299 | T>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000190999 rs1554396393 |
1301 | R>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508637 RCV001831785 RCV000047026 RCV001826677 RCV000577524 |
1303 | N>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA325604 VAR_000266 rs121909042 RCV000007639 |
1303 | N>H | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA327335 RCV000577150 rs397508636 RCV001009506 RCV001004512 RCV001530074 |
1303 | N>I | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002287325 RCV001004513 VAR_000267 RCV000224445 RCV002255995 rs80034486 RCV000007556 RCV001831530 CA340641 |
1303 | N>K | Cystic fibrosis Spermatogenic failure, Y-linked, 2 Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF; impaired maturation of glycan chains; has low in vitro channel activity at low temperature [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA327341 RCV000577203 rs397508640 |
1305 | D>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508642 CA327347 RCV000576926 |
1307 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA327345 RCV000577581 rs397508641 |
1307 | Y>C | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508643 CA327349 RCV000577670 |
1308 | E>* | Variant assessed as Somatic; impact. Cystic fibrosis Cystic fibrosis (cf) [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA164952756 RCV000757842 rs193922732 |
1309 | Q>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397508645 RCV001831786 RCV000047036 CA327353 |
1310 | W>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs962313398 RCV000595732 RCV002377227 CA164952771 |
1311 | S>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000506831 CA327355 RCV002288552 RCV001831787 RCV000672048 rs397508646 |
1312 | D>G | Congenital bilateral aplasia of vas deferens from CFTR mutation Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1793109904 RCV002481894 RCV001042257 |
1312 | D>Y | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000007600 RCV001826441 CA340650 rs121909026 |
1313 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000672177 rs121909026 CA327357 |
1313 | Q>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs754392413 RCV000409462 RCV001782867 |
1315 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554396417 CA368978585 RCV000508074 RCV001785648 |
1315 | I>M | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000007553 rs121909010 CA325531 |
1316 | W>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001263871 rs1793110279 |
1317 | K>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001731340 RCV000666104 rs397508648 CA327360 |
1318 | V>A | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002284605 rs397508649 CA327362 |
1319 | A>E | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs193922523 RCV000029534 |
1320 | D>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576921 CA327367 rs397508653 |
1324 | L>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1584848754 RCV000855426 |
1325 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1793339514 RCV001051933 |
1325 | R>S | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577015 rs397508654 |
1326 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508655 RCV000577275 |
1328 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804416 RCV000507454 RCV001829442 RCV000723504 rs115762793 CA4451605 |
1328 | I>T | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397508656 CA327371 RCV000577649 |
1329 | E>Q | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057516457 RCV001004514 RCV000410790 |
1330 | Q>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576660 CA368981990 rs375661578 |
1330 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs1369611499 CA368982012 RCV001036913 |
1331 | F>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA260246 rs193922524 RCV000029535 |
1333 | G>W | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757843 RCV000338955 rs886042527 |
1334 | K>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001000929 CA327376 rs145545286 RCV001831788 RCV002477159 RCV000577004 |
1335 | L>F | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000781251 RCV000047055 rs397508658 RCV002228162 CA327378 |
1335 | L>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508659 RCV000577312 CA327380 |
1337 | F>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA327382 rs397508660 RCV000577245 |
1339 | L>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554397492 CA368982236 RCV000533771 |
1340 | V>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757845 rs397508661 |
1343 | G>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318253 RCV001830312 rs773458471 CA4451611 |
1343 | G>D | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747324955 RCV001834846 RCV000698058 CA4451610 RCV000587884 |
1343 | G>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001834847 CA368982349 rs773458471 RCV000590185 |
1343 | G>V | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577503 rs397508661 |
1344 | C>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278585 rs1793341222 |
1344 | C>G | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451613 RCV000780147 rs368427311 RCV002493081 RCV000665288 RCV001829831 |
1344 | C>S | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000785642 RCV001826678 rs397508662 |
1346 | L>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1313341594 RCV001200887 CA368982423 |
1346 | L>Q | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000577627 rs397508664 |
1347 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554397497 RCV000664926 |
1347 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577656 rs397508665 |
1348 | H>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001290579 rs1793342111 |
1349 | G>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477013 rs193922525 RCV000029536 RCV001826515 RCV002247398 VAR_000268 CA325711 RCV000211255 |
1349 | G>D | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001272366 RCV000780113 CA327389 rs201686600 RCV000295222 |
1349 | G>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA164960198 rs955306189 RCV001193646 RCV001828599 RCV002320424 |
1350 | H>Y | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397508666 CA368982605 RCV001009427 |
1351 | K>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397508666 RCV000577427 CA327391 |
1351 | K>E | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000586919 rs763602969 CA368982619 TCGA novel RCV000672552 RCV001829625 |
1351 | K>N | Variant assessed as Somatic; impact. Cystic fibrosis CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000732035 RCV000799970 rs1562928927 |
1352 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4451616 rs751098333 RCV001263872 |
1352 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs113857788 RCV000586028 RCV000007659 RCV000808411 RCV000029537 RCV002256007 RCV001375489 CA260248 CA325616 RCV000757090 VAR_080325 RCV001009487 |
1352 | Q>H | CFTR-related disorders Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CBAVD; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA368982635 rs755993775 RCV000757871 |
1354 | M>R | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs755993775 RCV001834848 RCV000588556 CA4451618 RCV001050004 |
1354 | M>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4451621 RCV001830466 rs755028771 RCV000674737 |
1355 | C>F | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508667 RCV002284250 |
1358 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009428 rs1584848901 |
1358 | R>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001004515 rs397508668 RCV000056390 |
1360 | V>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827336 rs772157232 RCV001053209 CA4451624 |
1361 | L>V | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777892053 RCV000506612 CA4451625 RCV001785645 RCV001829443 |
1362 | S>N | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001829611 rs397508669 RCV000047069 |
1363 | K>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503166 CA16612022 RCV000466860 RCV001828483 |
1363 | K>Q | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000576913 RCV000781271 rs397508670 RCV000761478 VAR_000269 CA327395 |
1364 | A>V | Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CBAVD [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002325481 rs770345073 CA4451628 RCV000780133 RCV001825522 |
1366 | I>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200955612 RCV000666972 CA368982825 |
1366 | I>N | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000630457 CA4451629 rs200955612 RCV001726278 RCV001009486 |
1366 | I>T | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002477160 RCV000047076 CA327404 rs397508675 RCV000780149 |
1371 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000507855 RCV001857386 CA327408 rs397508677 |
1372 | P>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397508676 RCV002323436 CA327406 |
1372 | P>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587780313 RCV000116687 RCV002321592 CA231021 |
1373 | S>I | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000597097 RCV001853993 RCV003117358 CA164960299 rs115147093 |
1374 | A>G | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000047079 RCV002256033 rs146947665 RCV000731229 CA327410 RCV001831789 RCV002490614 |
1375 | H>N | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000757787 CA327412 rs397508678 |
1375 | H>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554397527 RCV000576801 |
1376 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009485 RCV001852982 CA327414 rs150683293 RCV000300236 |
1377 | D>H | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA184353 RCV001283970 rs150683293 RCV001826848 RCV000156193 RCV000673141 |
1377 | D>N | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000577744 rs397508680 |
1380 | T>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000412126 RCV000576942 CA16041141 rs397508683 CA327422 |
1381 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000476211 RCV001833592 CA16612027 rs776388660 |
1381 | Y>C | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327420 rs397508682 RCV000577023 |
1381 | Y>H | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397508684 CA327424 RCV000047087 RCV001091002 RCV001826680 |
1382 | Q>* | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508685 RCV001826681 RCV000047088 |
1383 | I>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368983378 RCV002319325 rs1584849296 |
1384 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368983422 RCV001830610 RCV001371671 RCV000731042 rs1455404428 |
1387 | T>A | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000577326 rs397508688 CA327430 |
1388 | L>Q | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554397584 CA368983435 RCV002329206 RCV000506108 |
1388 | L>V | Variant assessed as Somatic; impact. Cystic fibrosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA327432 RCV001009422 rs397508689 |
1390 | Q>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368983563 RCV001272368 rs1330281974 RCV000587172 |
1395 | C>F | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001835927 RCV000700671 rs375552160 CA4451658 |
1396 | T>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000577531 rs397508691 CA327440 VAR_000270 |
1397 | V>E | Cystic fibrosis Cystic fibrosis (cf) CF [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA327441 RCV001272369 RCV000781272 rs397508692 |
1398 | I>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000047100 RCV001507718 rs397508693 RCV001834825 |
1399 | L>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA368983619 RCV002332531 RCV000733248 rs1562929162 |
1399 | L>V | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000666949 rs1554397593 |
1400 | C>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397508695 RCV001009423 |
1400 | C>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000577074 rs397508696 CA327449 |
1401 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001831790 CA327453 rs397508697 RCV000577394 |
1401 | E>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000577736 rs397508696 CA327447 |
1401 | E>K | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA368983688 rs970498675 RCV000671812 RCV001829872 |
1403 | R>G | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA368983766 rs397508699 RCV000987966 |
1409 | E>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000781273 RCV000576918 CA327456 RCV002504943 RCV001811330 rs397508699 |
1409 | E>K | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1165501753 RCV000700040 CA368983789 RCV001830543 |
1410 | C>W | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000047110 rs397508701 CA327459 RCV001826682 |
1411 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697105 RCV000589528 CA4451664 rs150177304 RCV002248808 |
1411 | Q>P | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA327461 rs397508702 RCV001826683 RCV000047111 |
1412 | Q>* | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001827365 RCV001058351 RCV001201223 CA4451666 rs142092183 |
1413 | F>L | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397508703 RCV000577238 RCV000731653 CA327463 |
1414 | L>S | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001324856 RCV001830995 rs779591474 CA368984361 |
1415 | V>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1793384834 RCV001833975 RCV001228597 |
1417 | E>D | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001826685 RCV002247438 RCV000727667 RCV001002184 rs397508706 RCV000056391 |
1418 | E>missing | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554397750 RCV000673744 |
1418 | E>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000047120 rs397508707 CA327469 |
1418 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000630458 rs1461912555 RCV001834986 CA368984419 |
1419 | N>I | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4451679 RCV001830795 RCV002535484 RCV001193129 rs578237673 RCV000818798 |
1421 | V>L | Cystic fibrosis Inborn genetic diseases CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001812384 CA4451680 RCV001830083 rs780785939 |
1422 | R>Q | CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs373172017 RCV002332956 CA327471 RCV002281756 COSM3411520 |
1422 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system Cystic fibrosis [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1800135 RCV000781255 RCV000410428 CA368984510 CA16041142 RCV000670985 |
1424 | Y>* | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs867990936 RCV001834851 RCV000588222 CA164961707 |
1425 | D>N | Variant assessed as Somatic; impact. CFTR-related disorders [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001834716 CA4451682 RCV001508591 RCV000780111 rs762847468 RCV000527777 |
1426 | S>F | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000665842 CA327473 RCV001009481 rs397508708 RCV000589901 |
1426 | S>P | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001825503 RCV001805838 CA4451683 RCV000757872 rs762847468 RCV001269211 |
1426 | S>Y | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA260254 RCV000029541 rs193922528 |
1427 | I>T | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747078069 RCV000674043 |
1431 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827204 RCV001247338 rs761669740 CA4451688 RCV002261252 |
1432 | N>K | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001004309 rs750559671 CA368984671 RCV000674872 |
1433 | E>* | Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4451689 rs750559671 RCV000674488 RCV001830464 RCV002282321 COSM3394491 |
1433 | E>K | pancreas Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397508709 RCV001833488 RCV001009393 RCV000410620 |
1435 | S>missing | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009480 rs1584850172 |
1435 | S>missing | CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA164961790 rs975983947 RCV000780176 RCV001785724 RCV001825526 |
1438 | R>Q | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000577681 rs397508711 RCV001731341 CA327477 |
1438 | R>W | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001833312 rs766659587 CA4451691 RCV001241082 RCV000399110 |
1441 | I>T | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000669479 rs1554397769 |
1444 | S>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000506986 CA327479 RCV000586730 rs148783445 RCV000047128 |
1445 | D>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554397772 RCV000670019 |
1446 | R>* | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs985995406 RCV001239114 RCV001836199 |
1446 | R>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001001127 RCV000537941 RCV001834717 CA368984996 rs1397796355 |
1447 | V>E | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001836345 CA4451698 rs4148725 RCV001348321 |
1453 | R>G | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002255397 CA4451697 RCV001160218 RCV000507912 RCV001002200 RCV000456157 rs4148725 VAR_048152 |
1453 | R>W | Cystic fibrosis Hereditary pancreatitis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000007644 RCV000590108 CA118642 RCV000671423 rs121909043 CA368985134 RCV001004310 RCV001826450 RCV001781201 |
1455 | S>* | Sweat chloride elevation without cystic fibrosis CFTR-related disorders Cystic fibrosis Cystic fibrosis (cf) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4451700 RCV000796592 rs748845320 RCV001830712 |
1455 | S>A | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA164961910 rs983279303 RCV001273348 |
1456 | S>N | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1793394598 RCV001064207 |
1456 | S>R | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562929623 RCV002536456 RCV000731008 CA368985207 COSM744918 |
1461 | K>N | lung Cystic fibrosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000987968 rs1584850283 |
1464 | I>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001832500 rs199827645 RCV001055108 CA4451703 |
1466 | A>S | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1562929633 RCV000757799 |
1467 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000757798 rs1562929636 |
1467 | L>missing | Cystic fibrosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781256 RCV002496714 CA327487 RCV000577497 rs397508716 |
1473 | E>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000594928 CA368985321 RCV002331025 rs397508716 |
1473 | E>K | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080326 | 1473 | E>del | CBAVD; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001275209 rs369464175 RCV000757079 CA4451705 |
1475 | V>L | Cystic fibrosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV000047135 RCV000388068 CA221031 RCV000505964 RCV001009479 rs374705585 RCV002477161 RCV001004311 RCV002247439 |
1476 | Q>* | Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Hereditary pancreatitis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4451708 RCV001862220 rs753173837 RCV001827205 |
1478 | T>R | Cystic fibrosis Cystic fibrosis (cf) CFTR-related disorders [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000595527 RCV001000853 RCV001829683 rs1325117166 RCV000805213 CA368985427 |
1479 | R>K | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4451709 rs758818611 RCV001160219 RCV001242808 RCV003148938 |
1480 | L>P | Cystic fibrosis CFTR-related disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4450595 rs775329266 |
4 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs397508173 CA4450596 |
4 | S>L | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1327925872 CA368981192 |
6 | L>R | No |
ClinGen gnomAD |
|
|
CA4450598 rs121909045 |
7 | E>Q | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA368981243 rs1369001389 |
10 | S>R | No |
ClinGen gnomAD |
|
|
CA4450602 rs780188806 |
11 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4450600 rs1800072 |
11 | V>L | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4450603 rs754221223 |
12 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs905181880 CA164948935 |
13 | S>A | No |
ClinGen TOPMed |
|
|
CA368981282 rs397508635 |
13 | S>Y | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
CA368981305 rs772774651 |
14 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755405810 CA368981323 |
15 | L>F | No |
ClinGen ExAC |
|
|
rs755405810 CA4450604 |
15 | L>V | No |
ClinGen ExAC |
|
|
rs779256353 CA368981378 |
17 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 17 | F>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs397508714 | 17 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779256353 CA4450605 |
17 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs748599579 COSM243657 CA4450606 |
18 | S>G | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA368981413 rs1584764661 |
18 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 19 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368986824 rs1395987138 |
20 | T>S | No |
ClinGen gnomAD |
|
|
rs1408253313 CA368986832 |
20 | T>S | No |
ClinGen gnomAD |
|
|
CA327638 rs55773134 |
24 | L>F | No |
ClinGen Ensembl |
|
|
rs1309801039 CA368986916 |
25 | R>K | No |
ClinGen gnomAD |
|
|
rs1379722065 CA368986951 |
26 | K>N | No |
ClinGen TOPMed |
|
|
RCV000589825 rs397508797 CA368986987 |
27 | G>V | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA164963585 rs1012752433 |
28 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 29 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748005919 CA4450632 |
29 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA164963592 rs1800073 |
31 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA327701 rs397508821 |
32 | L>P | No |
ClinGen gnomAD |
|
|
rs1372627069 CA368987151 |
35 | S>L | No |
ClinGen gnomAD |
|
|
CA164963639 rs759721412 |
37 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758826243 CA4450639 |
38 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4450637 rs373112861 |
38 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4450638 rs373112861 |
38 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA164963691 rs996012692 |
39 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 41 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754657555 CA4450644 |
43 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs370586917 CA4450643 |
43 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4450645 VAR_000106 rs1800074 |
44 | D>V | No |
ClinGen UniProt ExAC dbSNP |
|
|
CA368987414 rs1248202161 |
48 | N>H | No |
ClinGen TOPMed |
|
|
CA4450647 rs771701007 |
48 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs556662007 CA4450648 |
49 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368987504 rs1562882767 |
52 | K>I | No |
ClinGen Ensembl |
|
|
CA368987542 rs1320388257 |
54 | E>G | No |
ClinGen gnomAD |
|
|
CA4450662 rs397508285 |
58 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4450663 rs397508291 |
58 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs893977457 CA164936955 |
59 | R>S | No |
ClinGen Ensembl |
|
|
CA164936951 rs1053857312 |
59 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 61 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368972149 rs1463491110 |
64 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769807498 CA4450666 |
65 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA368972182 rs372421038 |
69 | L>V | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP TOPMed |
|
CA326758 rs397508347 |
72 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4450667 rs774558645 |
72 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs762298973 CA4450668 |
73 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4450669 rs757959325 |
76 | C>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000362181 rs757959325 CA10606920 |
76 | C>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA4450671 rs751305135 |
78 | F>Y | No |
ClinGen ExAC |
|
|
rs397508370 RCV002214450 CA326802 |
79 | W>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1166373038 CA368972250 |
81 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4450672 rs780975618 |
83 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4450674 rs769754499 |
84 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773739166 | 91 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767204327 CA4450700 |
94 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434378124 CA368974201 |
94 | T>P | No |
ClinGen gnomAD |
|
|
rs375543675 CA368974272 |
100 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4450701 rs375543675 |
100 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA327018 rs397508484 |
101 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA4450703 rs369715785 |
104 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1014161183 CA164943615 |
104 | R>K | No |
ClinGen TOPMed |
|
|
rs758675549 CA4450704 |
105 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs140502196 RCV000271093 CA10606587 |
111 | P>R | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4450707 rs746344714 |
112 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs397508551 CA327166 |
113 | N>I | No |
ClinGen TOPMed |
|
|
rs397508551 CA368974416 |
113 | N>S | No |
ClinGen TOPMed |
|
|
rs397508554 CA327170 |
114 | K>* | No |
ClinGen Ensembl |
|
|
rs1554379808 RCV000759039 |
114 | K>missing | No |
ClinVar dbSNP |
|
|
CA164943684 rs149706251 |
115 | E>V | No |
ClinGen Ensembl |
|
|
CA4450710 rs761370893 |
116 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs761370893 CA4450709 |
116 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs397508571 CA327206 |
116 | E>Q | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs77834169 CA4450711 |
117 | R>S | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368974461 rs1334980869 |
118 | S>C | No |
ClinGen gnomAD |
|
|
CA368974463 rs1334980869 |
118 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201958172 CA368974475 |
120 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4450712 rs201958172 |
120 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574654063 CA4450713 |
121 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1237292560 CA368974512 |
124 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368974527 rs397508609 |
126 | G>A | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs1388235792 CA368974554 |
128 | C>* | No |
ClinGen TOPMed |
|
|
rs1162745955 CA368974567 |
129 | L>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4450715 rs780492177 |
131 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1798854245 RCV001812959 |
132 | I>missing | No |
ClinVar dbSNP |
|
|
CA368974620 rs1295588114 |
132 | I>T | No |
ClinGen gnomAD |
|
|
rs749801869 CA4450716 |
132 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771512600 RCV000730911 CA368974662 |
135 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs771512600 CA4450717 |
135 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA327402 rs397508674 |
137 | L>R | No |
ClinGen Ensembl |
|
|
rs1196059484 CA368974732 |
139 | H>Y | No |
ClinGen gnomAD |
|
|
CA4450720 rs397508694 |
140 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368974754 rs1423209115 |
141 | A>T | No |
ClinGen gnomAD |
|
|
CA164943801 rs749836021 |
145 | L>F | No |
ClinGen Ensembl |
|
|
rs397508712 CA327481 |
145 | L>H | No |
ClinGen Ensembl |
|
|
CA327483 rs397508713 |
146 | H>R | No |
ClinGen Ensembl |
|
|
rs1186899541 CA368974866 |
147 | H>N | No |
ClinGen gnomAD |
|
|
CA164943813 rs943677386 |
148 | I>V | No |
ClinGen Ensembl |
|
|
CA368974924 rs397508719 |
149 | G>E | No |
ClinGen gnomAD |
|
|
CA327494 rs397508719 |
149 | G>V | No |
ClinGen gnomAD |
|
|
CA4450722 rs752619770 |
150 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs764227419 CA4450723 |
151 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs764227419 CA368974963 |
151 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs149197463 CA4450725 |
153 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4450726 rs781327181 |
154 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA368975031 rs397508723 |
155 | A>S | No |
ClinGen TOPMed |
|
|
CA4450727 rs374689323 |
156 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4450729 rs397508724 |
158 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs397508724 CA368975085 |
158 | S>G | No |
ClinGen ExAC TOPMed |
|
|
CA327506 rs397508724 |
158 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA327511 rs397508727 |
159 | L>* | No |
ClinGen gnomAD |
|
|
CA368975125 rs1280815915 |
160 | I>V | No |
ClinGen gnomAD |
|
|
CA327521 rs397508730 |
161 | Y>S | No |
ClinGen gnomAD |
|
|
rs578029902 CA4450747 |
170 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368976460 rs762849766 |
176 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368976459 rs1329750819 |
176 | S>R | No |
ClinGen gnomAD |
|
|
rs762849766 CA4450751 |
176 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267579802 CA368976466 |
177 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4450752 rs749151514 |
177 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1267579802 CA368976465 |
177 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs367850319 CA4450753 |
179 | Q>* | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA164944923 rs1800080 VAR_009897 |
182 | S>G | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs397508751 CA368976498 |
183 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA164944932 rs368039301 |
188 | L>M | No |
ClinGen ESP |
|
|
rs1012483278 CA164944939 |
189 | N>S | No |
ClinGen TOPMed |
|
|
CA4450758 rs755405930 |
193 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA164945384 rs376008630 |
194 | G>R | No |
ClinGen ESP |
|
|
CA164945434 rs73215910 |
198 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4450781 rs753492211 |
200 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164945466 rs397508766 |
200 | F>L | No |
ClinGen gnomAD |
|
|
CA368976766 rs1457675231 |
200 | F>S | No |
ClinGen TOPMed |
|
|
CA368976792 rs1396707015 |
202 | W>* | No |
ClinGen gnomAD |
|
|
CA4450785 rs397508769 |
205 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368976853 rs1227994401 |
207 | Q>H | No |
ClinGen gnomAD |
|
|
rs770944337 CA4450786 |
208 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4450787 rs759719664 |
210 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA368976941 rs1562890551 |
216 | W>R | No |
ClinGen Ensembl |
|
|
rs1478192986 CA368976950 |
217 | E>K | No |
ClinGen gnomAD |
|
|
CA368976973 rs397508779 |
220 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA327618 rs397508779 |
220 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746904991 CA4450799 |
224 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4450800 rs770891254 |
226 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs770891254 CA368977026 |
226 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368977037 rs1435574279 |
228 | G>S | No |
ClinGen TOPMed |
|
|
rs1291526206 CA368977049 |
229 | F>Y | No |
ClinGen gnomAD |
|
|
CA164945654 rs201410793 |
230 | L>V | No |
ClinGen Ensembl |
|
|
rs775713428 CA164945666 |
233 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4450803 rs763097577 |
234 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769016520 CA4450804 |
234 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774888069 CA4450805 |
235 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs994090172 CA164945673 |
235 | L>V | No |
ClinGen Ensembl |
|
|
CA4450807 rs550709226 |
236 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000594434 CA368977120 rs1554380493 |
237 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368977125 rs1413926814 |
238 | A>S | No |
ClinGen TOPMed |
|
|
rs397508786 CA327631 |
238 | A>V | No |
ClinGen Ensembl |
|
|
rs199865300 CA164945731 |
240 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs397508789 CA368977150 |
241 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4450811 rs751401915 |
243 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs763914313 CA4450810 |
243 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA368977185 rs1285495030 |
244 | M>I | No |
ClinGen gnomAD |
|
|
CA4450812 rs562538994 |
244 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA164945750 rs866661883 |
245 | M>T | No |
ClinGen Ensembl |
|
|
rs397508792 CA4450814 |
248 | R>K | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA368977327 rs1243449721 |
250 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4450827 rs748582435 |
252 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748582435 CA368977339 |
252 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748582435 CA368977338 |
252 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113744424 CA164946468 |
252 | A>V | No |
ClinGen Ensembl |
|
|
CA368977345 rs1214138761 |
253 | G>E | No |
ClinGen gnomAD |
|
|
CA368977342 rs1343896905 |
253 | G>R | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
rs772704102 CA4450828 |
255 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273710927 CA368977357 |
255 | I>V | No |
ClinGen gnomAD |
|
|
rs1443021352 CA368977364 |
256 | S>N | No |
ClinGen gnomAD |
|
|
rs761102525 CA4450830 |
257 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA327650 rs397508795 |
259 | L>S | No |
ClinGen Ensembl |
|
|
rs762640483 CA4450833 |
259 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA368977389 rs751348867 |
260 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4450834 rs751348867 |
260 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4450837 rs750324511 |
272 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756036343 CA4450838 |
273 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1296578005 CA368977474 |
273 | K>Q | No |
ClinGen gnomAD |
|
|
CA368977485 rs1235143147 |
274 | A>V | No |
ClinGen gnomAD |
|
|
rs1256452363 CA368977498 |
276 | C>F | No |
ClinGen gnomAD |
|
|
rs1256452363 CA368977496 |
276 | C>Y | No |
ClinGen gnomAD |
|
|
rs1204903316 CA368977507 |
278 | E>K | No |
ClinGen TOPMed |
|
|
CA4450840 rs749377803 |
280 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4450841 rs755215339 |
281 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs796065332 RCV000179761 |
283 | K>missing | No |
ClinVar dbSNP |
|
|
CA4450842 rs772510035 |
283 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs786204693 | 284 | M>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747515655 CA4450843 |
285 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs775048504 CA4450844 |
287 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301772800 CA368977591 |
290 | Q>R | No |
ClinGen gnomAD |
|
|
rs1229041853 CA368977829 |
291 | T>A | No |
ClinGen gnomAD |
|
|
rs779120165 CA4450857 |
291 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779120165 CA4450858 |
291 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473220813 CA368977978 |
298 | K>T | No |
ClinGen gnomAD |
|
|
rs1199381229 CA368978002 |
299 | A>E | No |
ClinGen TOPMed |
|
|
CA164953433 rs142134579 |
300 | A>G | No |
ClinGen ESP gnomAD |
|
|
rs1230103075 CA368978310 |
310 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs75763344 CA368978366 |
314 | G>A | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs75763344 CA327697 |
314 | G>V | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs1165242377 CA368978397 |
315 | F>L | No |
ClinGen TOPMed |
|
|
rs779201407 CA164953556 |
316 | F>S | No |
ClinGen Ensembl |
|
|
CA368978423 RCV000780168 rs779201407 |
316 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1204521684 CA368978446 |
317 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1562892212 CA368978510 |
321 | S>C | No |
ClinGen Ensembl |
|
|
CA4450870 rs765443528 |
321 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs867392195 CA368978552 |
324 | P>A | No |
ClinGen TOPMed |
|
|
rs867392195 CA164953594 |
324 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 327 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368978742 rs1431852129 |
335 | K>E | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
CA4450876 rs397508139 |
336 | I>T | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771716655 CA4450877 |
337 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA164953763 rs150239014 |
340 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs746657594 CA4450878 |
343 | C>F | No |
ClinGen ExAC |
|
|
rs770678816 CA4450879 |
344 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA164953854 rs397508147 |
347 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184582207 CA368978872 |
348 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4450884 rs562012226 |
355 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144720913 CA164953972 COSM106703 |
355 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs797044788 RCV000180170 |
356 | W>I | No |
ClinVar dbSNP |
|
|
CA164954011 rs996758542 |
358 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA368978967 rs1397822868 |
358 | V>I | No |
ClinGen TOPMed |
|
|
CA4450886 rs75053309 |
360 | T>I | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM3411519 rs75053309 CA326391 |
360 | T>R | Variant assessed as Somatic; impact. central_nervous_system Cystic fibrosis (cf) [NCI-TCGA, Cosmic, Ensembl] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1584789469 CA368979001 |
361 | W>C | No |
ClinGen Ensembl |
|
|
rs1175337832 CA368979043 |
364 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA326399 RCV002281729 rs78909279 |
364 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368979091 rs1268313112 |
369 | N>S | No |
ClinGen gnomAD |
|
|
rs1446096086 CA368979100 |
370 | K>E | No |
ClinGen gnomAD |
|
|
CA4450890 rs769711210 |
371 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs140026105 CA4450889 |
371 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA164954182 rs955595226 |
371 | I>V | No |
ClinGen Ensembl |
|
|
rs1478315064 CA368979121 |
372 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368979770 rs1416245806 |
373 | D>V | No |
ClinGen gnomAD |
|
|
CA368979766 rs556880586 |
373 | D>Y | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1425636565 CA368979803 |
375 | L>* | No |
ClinGen gnomAD |
|
|
rs1236277028 CA368979907 |
380 | Y>* | No |
ClinGen gnomAD |
|
|
rs761884881 CA4450909 |
380 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375975969 CA4450910 |
382 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368979995 rs1169425480 |
384 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA164955671 rs865910211 |
386 | N>Y | No |
ClinGen Ensembl |
|
|
CA368980056 rs1483987643 |
387 | L>S | No |
ClinGen gnomAD |
|
|
rs754159235 CA368980076 |
389 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4450914 rs754159235 |
389 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs759980456 CA4450915 |
390 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA368980100 rs1239388236 |
390 | T>I | No |
ClinGen gnomAD |
|
|
rs397508172 CA326427 |
394 | M>R | No |
ClinGen gnomAD |
|
|
rs397508172 CA368980161 |
394 | M>T | No |
ClinGen gnomAD |
|
|
CA368980195 rs1225700054 |
397 | V>I | No |
ClinGen TOPMed |
|
|
rs146463120 CA4450919 |
399 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs397508175 CA4450922 |
401 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA4450921 rs397508174 |
401 | W>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368981272 rs1324302547 |
404 | G>A | No |
ClinGen gnomAD |
|
|
rs754860444 CA4450958 |
409 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA368981370 rs1341247313 |
411 | K>R | No |
ClinGen TOPMed |
|
|
rs1479794992 CA368981384 |
412 | A>S | No |
ClinGen gnomAD |
|
|
rs1554382604 CA368981391 RCV000507692 |
412 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000508067 rs1554382608 |
414 | Q>missing | No |
ClinVar dbSNP |
|
|
rs758289310 CA4450961 COSM1319038 |
414 | Q>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA368981426 rs1297872811 |
415 | N>D | No |
ClinGen TOPMed |
|
|
rs1454035206 CA368981450 |
416 | N>D | No |
ClinGen gnomAD |
|
|
rs1477185739 CA368981571 |
423 | N>S | No |
ClinGen TOPMed |
|
|
rs1026071956 CA164960259 |
424 | G>D | No |
ClinGen Ensembl |
|
|
rs563443356 CA4450966 |
428 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4450969 rs772853317 |
431 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1421684452 CA368981727 |
431 | S>N | No |
ClinGen TOPMed |
|
|
CA164960289 rs11531593 |
433 | F>L | No |
ClinGen gnomAD |
|
|
rs367934560 CA368981822 |
434 | S>L | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP TOPMed gnomAD |
|
rs1799212931 RCV001192430 |
434 | S>P | No |
ClinVar dbSNP |
|
|
CA4450970 rs760329565 |
435 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112695925 CA164960294 |
435 | L>V | No |
ClinGen Ensembl |
|
|
RCV000586243 CA368981865 rs1554382639 |
436 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4450972 rs754553074 |
440 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA368981983 rs1303584192 |
441 | L>V | No |
ClinGen gnomAD |
|
|
rs148056476 CA4450973 |
443 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758342553 CA4450974 |
444 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4450976 rs746941790 |
447 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584793570 CA368982199 |
448 | I>L | No |
ClinGen Ensembl |
|
|
CA164960360 rs748642635 |
448 | I>R | No |
ClinGen gnomAD |
|
|
rs1293018753 CA368982227 |
449 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1013802365 CA164960364 |
450 | R>G | No |
ClinGen TOPMed |
|
|
rs1334881836 CA368982249 |
450 | R>I | No |
ClinGen gnomAD |
|
|
rs1359327577 TCGA novel CA368982262 |
451 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs397508193 CA368982291 |
452 | Q>R | No |
ClinGen Ensembl |
|
|
RCV000173694 rs397508194 |
454 | L>missing | No |
ClinVar dbSNP |
|
|
CA368982424 rs397508195 |
456 | V>L | No |
ClinGen TOPMed |
|
|
CA368982521 rs1163971376 |
459 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368982514 rs1455948000 |
459 | S>T | No |
ClinGen TOPMed |
|
|
RCV000171532 rs786205658 |
459 | S>missing | No |
ClinVar dbSNP |
|
|
rs1367483657 CA368982529 |
460 | T>A | No |
ClinGen TOPMed |
|
|
RCV001194370 rs1422519885 |
462 | A>G | No |
ClinVar dbSNP |
|
|
CA368982574 rs1422519885 |
462 | A>V | No |
ClinGen gnomAD |
|
|
CA368982583 rs1163866901 |
463 | G>D | No |
ClinGen TOPMed |
|
|
rs1261167416 CA368984321 |
470 | V>E | No |
ClinGen TOPMed |
|
|
rs1459732115 CA368984325 |
471 | I>V | No |
ClinGen gnomAD |
|
|
rs756206533 CA4451003 |
474 | E>Q | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA368984382 rs139054556 |
477 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368984381 rs139054556 |
477 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10605638 rs886043543 RCV000295983 |
479 | E>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs886043543 CA368984405 |
479 | E>G | No |
ClinGen gnomAD |
|
|
rs397508208 CA326486 RCV001507709 |
480 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA164967690 rs990004450 |
481 | K>E | No |
ClinGen TOPMed |
|
|
CA368984461 rs1427892651 |
484 | H>R | No |
ClinGen TOPMed |
|
|
rs138427145 CA368984466 |
485 | S>G | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs143980575 CA368984468 |
485 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748461979 CA4451007 |
487 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA164967713 rs397508211 |
489 | S>L | Variant assessed as Somatic; impact. Cystic fibrosis (cf) [NCI-TCGA, Ensembl] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4451009 rs772635060 |
490 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1554384373 CA368984545 RCV000591901 |
493 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368984551 rs1466073638 |
494 | F>V | No |
ClinGen TOPMed |
|
|
CA164967725 rs906983070 |
495 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200626971 CA164967729 |
496 | W>C | No |
ClinGen 1000Genomes |
|
|
CA326505 rs397508218 |
498 | M>I | No |
ClinGen Ensembl |
|
|
rs1282142297 CA368984599 |
498 | M>T | No |
ClinGen gnomAD |
|
|
rs1562898413 CA368984616 |
500 | G>S | No |
ClinGen Ensembl |
|
|
CA4451015 rs753920616 |
508 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753920616 CA4451016 |
508 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74571530 CA326527 |
508 | F>S | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs74571530 CA368984727 |
508 | F>Y | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4451017 rs752955846 |
510 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1048256995 CA164967788 |
512 | Y>C | No |
ClinGen TOPMed |
|
|
RCV000730450 CA368984781 rs1562898472 |
512 | Y>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4451018 rs758745885 |
513 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1174624989 CA368984813 |
514 | E>A | No |
ClinGen gnomAD |
|
|
CA164967800 rs781680305 |
514 | E>D | No |
ClinGen Ensembl |
|
|
rs121908776 CA325535 |
515 | Y>* | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen TOPMed |
|
CA368984855 rs1562898492 |
516 | R>S | No |
ClinGen Ensembl |
|
|
rs1562898497 CA368984882 RCV000732961 |
518 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1279717363 CA368984897 |
519 | S>N | No |
ClinGen gnomAD |
|
|
CA368984924 rs1360070384 |
521 | I>F | No |
ClinGen gnomAD |
|
|
CA368984920 rs1360070384 |
521 | I>L | No |
ClinGen gnomAD |
|
|
rs140552874 CA4451023 |
521 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368984938 rs1483458563 |
522 | K>E | No |
ClinGen TOPMed |
|
|
rs397508228 CA326534 |
527 | E>Q | No |
ClinGen gnomAD |
|
|
RCV000781286 CA368985058 rs1562898548 |
528 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397508235 CA326545 |
529 | D>H | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen Ensembl |
|
CA4451043 rs770841527 |
530 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1338239866 CA368975809 |
530 | I>N | No |
ClinGen gnomAD |
|
|
CA4451042 rs397508237 |
530 | I>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_048150 CA164944903 rs35032490 |
532 | K>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA368975855 rs1451607172 |
532 | K>N | No |
ClinGen gnomAD |
|
|
CA368975888 rs1269344369 |
535 | E>K | No |
ClinGen TOPMed |
|
|
CA326556 rs397508240 |
537 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1196851290 CA368975952 |
538 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 538 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000507802 rs1554388571 |
538 | N>missing | No |
ClinVar dbSNP |
|
|
rs1338761294 CA368975945 |
538 | N>Y | No |
ClinGen gnomAD |
|
|
rs1562906305 CA368975963 |
540 | V>A | No |
ClinGen Ensembl |
|
|
CA368975961 rs187318937 |
540 | V>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs764314119 CA4451047 |
542 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs113993959 CA368975971 |
542 | G>R | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368975976 rs1371455517 |
543 | E>Q | No |
ClinGen TOPMed |
|
|
RCV000998900 rs1387755887 CA368976021 |
545 | G>E | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ClinVar TOPMed dbSNP |
|
rs1194722899 CA368976028 |
546 | I>F | No |
ClinGen gnomAD |
|
|
rs747633221 CA164944957 |
546 | I>S | No |
ClinGen Ensembl |
|
|
CA4451051 rs750970412 |
547 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1429531030 CA368976045 |
547 | T>I | No |
ClinGen gnomAD |
|
|
rs1469024267 CA368976061 |
548 | L>P | No |
ClinGen gnomAD |
|
|
CA368976084 rs1562906349 |
550 | G>E | No |
ClinGen Ensembl |
|
|
rs121909044 CA368976131 COSM1488157 |
553 | R>P | Variant assessed as Somatic; 0.0 impact. breast Cystic fibrosis (cf) [NCI-TCGA, Cosmic, Ensembl] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs121909022 CA164945024 COSM174395 |
554 | A>E | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs746642567 CA4451052 |
557 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397508259 CA326592 |
559 | A>E | No |
ClinGen Ensembl |
|
|
rs397508259 CA326594 |
559 | A>V | No |
ClinGen Ensembl |
|
|
rs1226880376 CA368976995 |
561 | A>S | No |
ClinGen gnomAD |
|
|
rs371291116 CA4451065 |
564 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4451067 rs769476932 |
565 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769476932 COSM202013 CA4451066 |
565 | D>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs397508271 CA326613 |
566 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM3431146 rs1562907184 CA368977082 |
567 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4451070 rs748393295 |
572 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs772223589 CA368977184 |
573 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397508283 CA368977188 |
574 | P>A | No |
ClinGen Ensembl |
|
|
rs1252613524 CA368977198 |
575 | F>I | No |
ClinGen gnomAD |
|
|
CA4451073 rs1800098 |
576 | G>V | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs397508286 CA368977231 |
577 | Y>C | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1030725225 CA164946422 |
578 | L>P | No |
ClinGen Ensembl |
|
|
CA326642 rs397508288 |
579 | D>A | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
CA368977266 rs1421257199 |
583 | E>G | No |
ClinGen gnomAD |
|
|
CA368977278 rs397508296 |
585 | E>K | Variant assessed as Somatic; 0.0 impact. Cystic fibrosis (cf) [NCI-TCGA, Ensembl] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767349773 CA4451075 |
587 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA4451076 rs767349773 |
587 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA368977300 rs397508297 |
588 | E>A | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1347776232 CA368977731 |
590 | C>S | No |
ClinGen TOPMed |
|
|
rs767117028 CA4451093 |
592 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405593377 CA368977828 |
595 | M>I | No |
ClinGen TOPMed |
|
|
rs750140050 CA4451095 |
595 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA164947374 rs139027193 |
596 | A>D | No |
ClinGen Ensembl |
|
|
CA368977851 rs937740224 |
597 | N>D | No |
ClinGen Ensembl |
|
|
rs186147668 CA4451097 |
597 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766220110 CA4451096 |
597 | N>T | No |
ClinGen ExAC |
|
|
rs937740224 CA164947375 |
597 | N>Y | No |
ClinGen Ensembl |
|
|
rs397508306 CA368977959 |
601 | I>V | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758518645 CA4451100 |
603 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4451099 rs143036685 |
603 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164947442 VAR_048151 rs766874 |
605 | S>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs747283431 CA4451102 |
605 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1246352487 CA368978081 |
606 | K>E | No |
ClinGen TOPMed |
|
| rs796791118 | 606 | K>RSSENVP* | No | Ensembl | |
|
rs771007967 CA4451103 |
610 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1400004459 CA368978238 |
611 | K>* | No |
ClinGen gnomAD |
|
|
CA326698 rs397508312 |
614 | D>Y | No |
ClinGen Ensembl |
|
|
CA4451104 rs746288410 |
616 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770273307 CA4451105 |
617 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs397508314 CA4451107 |
620 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs397508314 CA4451106 |
620 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA368978549 rs1309723251 |
624 | S>R | No |
ClinGen TOPMed |
|
|
CA4451108 rs760390633 |
625 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs765879588 CA4451109 |
626 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1293871547 CA368978597 |
627 | Y>C | No |
ClinGen gnomAD |
|
|
CA368978619 rs1246322557 |
629 | T>A | No |
ClinGen gnomAD |
|
|
rs397508319 CA326711 |
634 | Q>* | No |
ClinGen Ensembl |
|
|
CA368978732 rs1419497091 |
635 | N>T | No |
ClinGen gnomAD |
|
|
CA326715 rs397508321 |
639 | D>Y | No |
ClinGen Ensembl |
|
|
rs752666475 CA4451113 |
641 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA164947599 rs758401664 |
642 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 643 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA164947601 rs998550248 |
644 | L>H | No |
ClinGen TOPMed |
|
|
rs757356196 CA4451117 |
648 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 649 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs546234059 CA4451123 |
652 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546234059 CA4451122 |
652 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368978998 rs1210495622 |
653 | F>V | No |
ClinGen gnomAD |
|
|
rs1800099 VAR_009902 CA164947637 |
654 | S>G | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs397508323 CA368979035 |
656 | E>Q | No |
ClinGen gnomAD |
|
|
CA368979132 rs1239044735 |
661 | I>T | No |
ClinGen gnomAD |
|
|
rs1439424032 CA368979143 |
663 | T>S | No |
ClinGen gnomAD |
|
|
rs1387601608 CA368979167 |
667 | H>Y | No |
ClinGen gnomAD |
|
|
rs199623561 CA4451125 |
668 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199623561 CA164947672 |
668 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1800100 CA368979176 |
668 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4451126 rs776194796 |
672 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA368979282 rs1259091056 |
674 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs765043844 CA4451127 |
674 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4451128 rs765043844 |
674 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA368979266 rs1277353547 |
674 | D>Y | No |
ClinGen TOPMed |
|
|
CA368979291 rs1383435025 |
675 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 676 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451130 rs762888022 |
676 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757333389 CA4451132 |
678 | S>F | No |
ClinGen ExAC |
|
|
CA164947738 rs181878120 |
683 | K>R | No |
ClinGen 1000Genomes |
|
| rs121908746 | 684 | K>N | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs79471689 CA164947746 |
684 | K>R | No |
ClinGen gnomAD |
|
|
rs79471689 CA368979438 |
684 | K>T | No |
ClinGen gnomAD |
|
|
CA368979467 rs1197122937 |
686 | S>T | No |
ClinGen gnomAD |
|
|
CA164947754 rs949621034 |
687 | F>L | No |
ClinGen Ensembl |
|
|
rs1245423244 CA368979500 |
688 | K>Q | No |
ClinGen gnomAD |
|
|
CA368979554 rs1187385113 |
691 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368979579 rs1478266451 |
693 | F>S | No |
ClinGen TOPMed |
|
|
rs755388239 CA4451138 |
695 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 695 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs397508341 | 697 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs397508341 | 697 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451139 rs779344666 |
699 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4451140 rs748664864 |
703 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA4451142 rs776162972 |
704 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368979792 rs776162972 |
704 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 704 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451143 rs745538406 |
705 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774331535 CA164947853 |
706 | N>I | No |
ClinGen Ensembl |
|
| TCGA novel | 706 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 707 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451144 rs769375972 |
708 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 710 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217700108 CA368979959 |
713 | I>V | No |
ClinGen TOPMed |
|
|
CA4451146 rs774199624 |
714 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 714 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767516547 CA4451148 |
717 | T>I | No |
ClinGen ExAC |
|
|
rs766776518 CA4451150 |
720 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA368980162 rs1378373345 |
722 | N>K | No |
ClinGen TOPMed |
|
|
rs1193752688 CA368980272 |
727 | D>A | No |
ClinGen gnomAD |
|
|
RCV000506369 rs1554389411 |
729 | D>missing | No |
ClinVar dbSNP |
|
|
CA4451152 rs748634753 |
731 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562908065 CA368980341 RCV000733799 |
731 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 737 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451153 rs780578035 |
737 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1374968119 CA368980434 |
738 | L>F | No |
ClinGen TOPMed |
|
|
CA4451154 rs769282153 |
739 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA164948004 rs998079930 |
743 | E>K | No |
ClinGen Ensembl |
|
|
rs1420300122 CA368980519 |
744 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 745 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451156 rs748908591 COSM1084474 |
747 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs151235408 CA368980604 |
749 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs397508357 CA326778 |
751 | R>P | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766541549 CA368980666 |
752 | I>T | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1356302007 CA368980675 |
753 | S>G | No |
ClinGen gnomAD |
|
|
CA4451163 rs754150498 |
753 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA368980696 rs150157202 |
754 | V>L | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753047779 CA4451164 |
755 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 755 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368980732 rs1432291953 |
756 | S>C | No |
ClinGen gnomAD |
|
|
rs1196473456 CA368980756 |
757 | T>S | No |
ClinGen gnomAD |
|
|
rs397508359 CA4451165 |
760 | T>R | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA164948166 rs77083601 |
761 | L>P | No |
ClinGen Ensembl |
|
|
rs397508361 CA326788 |
762 | Q>H | No |
ClinGen Ensembl |
|
|
CA4451167 rs557228597 |
765 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs397508363 CA4451168 |
766 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs397508363 CA368980900 |
766 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1386366130 CA368980921 |
767 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1299482973 CA368980934 |
768 | S>F | No |
ClinGen gnomAD |
|
|
rs771752335 CA4451172 |
775 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA368981019 rs1207636825 |
781 | Q>H | No |
ClinGen gnomAD |
|
|
CA368981024 rs1291937450 |
782 | N>T | No |
ClinGen TOPMed |
|
|
rs760654830 CA4451174 |
783 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs773328681 CA4451173 |
783 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141880790 CA4451176 |
785 | R>P | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765432538 CA4451177 |
786 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA368981061 rs1380182202 |
788 | T>K | No |
ClinGen TOPMed |
|
|
RCV000728710 rs1562908169 |
791 | T>missing | No |
ClinVar dbSNP |
|
|
rs1457489949 CA368981091 CA368981092 |
794 | V>L | No |
ClinGen gnomAD |
|
|
RCV000759036 CA368981090 rs1457489949 |
794 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA368981116 rs1487944948 |
798 | P>R | No |
ClinGen TOPMed |
|
|
rs984281283 CA164948282 |
799 | Q>K | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
rs764413025 CA4451179 |
800 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs397508373 CA368981134 |
800 | A>V | No |
ClinGen gnomAD |
|
|
rs1562908192 RCV000780163 CA368981144 |
801 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1178839222 CA368981139 |
801 | N>Y | No |
ClinGen gnomAD |
|
|
rs1351452625 CA368981205 |
807 | I>V | No |
ClinGen TOPMed |
|
|
RCV001284477 rs1792049900 |
808 | Y>F | No |
ClinVar dbSNP |
|
|
CA368981239 rs1457971953 |
809 | S>L | No |
ClinGen gnomAD |
|
|
CA368981298 rs1299270564 |
813 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 813 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368981439 rs1255429773 |
820 | I>L | No |
ClinGen gnomAD |
|
|
rs1435555122 CA368981462 |
821 | S>N | No |
ClinGen gnomAD |
|
|
rs397508379 CA326821 |
823 | E>* | No |
ClinGen gnomAD |
|
|
rs397508379 CA368981510 |
823 | E>K | No |
ClinGen gnomAD |
|
|
rs776854526 CA4451187 |
826 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA368981684 rs1279605703 |
828 | D>E | No |
ClinGen gnomAD |
|
|
rs1000104971 CA164948434 |
828 | D>G | No |
ClinGen Ensembl |
|
|
CA368983777 rs1301647941 |
831 | E>D | No |
ClinGen TOPMed |
|
|
rs373264826 CA164949594 |
831 | E>G | No |
ClinGen Ensembl |
|
|
COSM1248179 rs916311463 CA368983782 |
832 | C>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA164949600 rs916311463 |
832 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4451213 rs565589205 |
832 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs397508389 | 834 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984894645 CA164949878 |
837 | M>I | No |
ClinGen TOPMed |
|
|
rs752086705 CA4451216 |
837 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 838 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368983880 rs1584813780 |
841 | P>T | No |
ClinGen Ensembl |
|
|
rs1196966819 CA368983917 |
847 | N>D | No |
ClinGen TOPMed |
|
|
rs757165481 CA4451220 |
849 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 850 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566908587 CA4451226 |
854 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554389814 RCV000596176 CA658797002 |
854 | T>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397508398 CA4451230 |
857 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 857 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 858 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777190367 CA4451231 |
859 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4451232 rs762608972 |
862 | V>L | No |
ClinGen ExAC |
|
|
rs1390324427 CA368984056 |
869 | I>S | No |
ClinGen TOPMed |
|
|
rs1792099971 RCV001269810 |
871 | L>missing | No |
ClinVar dbSNP |
|
|
rs145714303 CA164950065 |
872 | A>E | No |
ClinGen ESP TOPMed |
|
|
rs145714303 CA368984090 |
872 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1381460923 CA368984105 |
873 | E>V | No |
ClinGen gnomAD |
|
|
CA164954908 rs917853890 |
874 | V>A | No |
ClinGen TOPMed |
|
|
rs773943545 CA4451250 |
874 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1328356747 CA368985912 |
876 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA164954946 rs141508280 |
884 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 884 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451267 rs776137464 |
887 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs747674073 CA4451268 |
888 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61738523 CA368986383 |
889 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776350132 RCV000593537 CA368986399 |
891 | D>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA4451270 rs760339182 |
891 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368986408 COSM1699244 rs1584817676 |
893 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA368986421 rs1488966637 |
894 | N>K | No |
ClinGen gnomAD |
|
|
rs1278852401 CA368986417 |
894 | N>S | No |
ClinGen gnomAD |
|
|
rs567934887 CA4451275 |
897 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200550913 CA368986442 |
898 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 900 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368986467 rs1377924973 |
901 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 901 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1800106 VAR_009903 CA164959996 |
903 | Y>H | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA368986486 rs1371395991 |
904 | A>V | No |
ClinGen TOPMed |
|
|
rs757444123 CA4451278 |
907 | I>S | No |
ClinGen ExAC gnomAD |
|
|
VAR_009904 rs1800107 CA164960034 |
909 | S>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA368986522 rs1303696796 |
910 | T>S | No |
ClinGen gnomAD |
|
|
CA4451279 rs746301481 |
911 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000781253 CA368986530 rs1562911534 |
911 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368986528 rs746301481 RCV000759759 |
911 | S>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA326909 rs397508427 |
917 | Y>D | No |
ClinGen Ensembl |
|
|
RCV001193073 CA368986644 rs1267646551 |
918 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1584817806 CA368986679 |
920 | V>G | No |
ClinGen Ensembl |
|
|
rs199564652 CA4451284 |
921 | G>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs1395833444 CA368986702 |
922 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368986737 RCV000730651 rs1562911610 |
924 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1423162478 CA368986746 |
925 | T>A | No |
ClinGen TOPMed |
|
|
rs376827439 CA164960163 |
925 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376827439 CA368986752 |
925 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4451287 rs767910302 |
926 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA368986791 rs397508435 |
927 | L>H | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen TOPMed |
|
CA368986969 rs1246404183 |
936 | P>L | No |
ClinGen gnomAD |
|
|
CA164960239 rs749784731 |
938 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770410806 CA4451293 |
939 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780871325 CA4451294 |
940 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA368987063 rs1290460154 |
941 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 943 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA164960286 rs141747560 |
944 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs141747560 CA368987124 |
944 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs397508443 CA326938 |
946 | K>* | No |
ClinGen gnomAD |
|
|
rs397508443 CA368987159 |
946 | K>Q | No |
ClinGen gnomAD |
|
|
CA4451297 rs774142582 |
947 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA368987215 rs1402844924 |
948 | L>F | No |
ClinGen gnomAD |
|
|
rs775570582 CA164960312 |
948 | L>S | No |
ClinGen Ensembl |
|
|
CA368987258 rs1397259779 |
950 | H>R | No |
ClinGen gnomAD |
|
|
rs181137679 CA4451299 |
951 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1354277990 CA368987275 |
951 | K>T | No |
ClinGen gnomAD |
|
|
rs397508446 CA368987372 |
954 | H>R | No |
ClinGen TOPMed |
|
|
CA4451302 rs779528411 |
954 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753177202 CA4451303 |
956 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4451304 rs756799384 |
959 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA368987512 rs1426092466 |
960 | P>L | No |
ClinGen gnomAD |
|
|
CA326954 rs397508450 |
961 | M>I | No |
ClinGen gnomAD |
|
|
rs1466453517 CA368987519 |
961 | M>V | No |
ClinGen gnomAD |
|
|
CA368987555 rs1467971855 |
963 | T>A | No |
ClinGen gnomAD |
|
|
CA164960393 rs551092617 |
963 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs551092617 CA164960385 |
963 | T>N | No |
ClinGen Ensembl |
|
|
rs1461367862 CA368987575 |
964 | L>F | No |
ClinGen gnomAD |
|
|
CA368987610 rs1562911760 |
966 | T>M | No |
ClinGen Ensembl |
|
| TCGA novel | 967 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451328 rs747139295 |
973 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397508460 CA326969 |
973 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 973 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451331 COSM1447500 CA4451330 rs776948957 |
976 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4451329 rs770891418 |
976 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs141033578 CA368989013 |
977 | S>C | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP TOPMed gnomAD |
|
rs943473311 CA164962410 |
978 | K>R | No |
ClinGen gnomAD |
|
|
CA368989079 rs1448831486 |
982 | I>V | No |
ClinGen gnomAD |
|
|
CA164962466 rs945378931 |
983 | L>F | No |
ClinGen Ensembl |
|
|
CA326986 rs397508465 |
985 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4451334 rs397508465 |
985 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs397508465 CA326988 |
985 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs565971160 CA4451336 |
986 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 987 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 989 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333822890 CA368989172 |
990 | T>A | No |
ClinGen TOPMed |
|
|
rs201761547 CA4451338 |
990 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs201761547 CA4451337 |
990 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4451339 rs778858736 |
991 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164962532 rs1043006335 |
992 | F>V | No |
ClinGen TOPMed |
|
|
rs777904861 CA4451342 |
993 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776522386 CA4451344 |
995 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA368989234 rs1415507467 |
995 | I>N | No |
ClinGen gnomAD |
|
| rs397508472 | 1000 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs193922731 CA4451362 |
1001 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4451363 rs781336456 |
1002 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746000445 CA501096 |
1004 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs780295120 CA4451364 |
1006 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1008 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368990479 rs184724618 |
1009 | A>S | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs772525578 CA4451365 |
1009 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA368990532 rs1274139896 |
1012 | Q>R | No |
ClinGen TOPMed |
|
|
CA4451368 rs193922516 |
1013 | P>R | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA164965162 rs926189289 |
1014 | Y>H | No |
ClinGen Ensembl |
|
|
RCV000985687 rs1584821602 |
1014 | Y>missing | No |
ClinVar dbSNP |
|
|
CA4451369 rs757069965 |
1018 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs61729420 CA164965189 |
1019 | T>A | No |
ClinGen TOPMed |
|
|
CA164965222 rs906426155 |
1019 | T>I | No |
ClinGen TOPMed |
|
|
rs397508489 CA327029 |
1020 | V>E | No |
ClinGen Ensembl |
|
|
rs756219310 CA164965281 |
1023 | I>T | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1373711694 CA368990698 |
1023 | I>V | No |
ClinGen gnomAD |
|
|
CA368990710 rs1393071475 |
1023 | I>M | No |
ClinGen TOPMed |
|
|
CA368990726 rs1319259748 |
1025 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780061408 CA4451373 |
1025 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79539988 CA164965295 |
1027 | I>F | No |
ClinGen Ensembl |
|
|
rs200512336 CA164965316 |
1028 | M>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA368990748 rs1488996808 |
1029 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1031 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779196228 CA4451375 COSM1580173 |
1031 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs397508495 CA327041 |
1032 | Y>N | No |
ClinGen Ensembl |
|
|
rs761221420 CA4451378 |
1039 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1268860788 CA368990836 |
1042 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1044 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000505907 rs397508501 CA327051 |
1044 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368990846 rs1455444601 |
1044 | E>Q | No |
ClinGen gnomAD |
|
|
CA327063 rs397508508 |
1047 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs397508508 CA4451402 |
1047 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368991749 rs1211644692 |
1049 | S>N | No |
ClinGen gnomAD |
|
|
rs1584822186 CA368991760 |
1049 | S>R | No |
ClinGen Ensembl |
|
|
rs370430187 CA164966275 |
1050 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4451404 rs374403559 |
1051 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368991806 rs150212784 |
1052 | F>L | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4451405 rs199990040 |
1054 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417435640 CA368991865 |
1054 | H>R | No |
ClinGen gnomAD |
|
|
CA368991956 rs1244798983 |
1060 | K>E | No |
ClinGen TOPMed |
|
|
rs142526976 CA368991966 |
1060 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs397508515 CA327082 |
1065 | L>F | No |
ClinGen gnomAD |
|
|
rs1800114 CA327091 |
1067 | A>D | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368992079 rs1800116 |
1068 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs121909037 CA368992101 |
1071 | Q>R | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
CA368992136 RCV001284616 rs1258481099 |
1074 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA368992174 rs1490842061 |
1077 | L>V | No |
ClinGen Ensembl |
|
|
rs397508519 CA327106 |
1079 | H>P | No |
ClinGen Ensembl |
|
|
CA368992210 rs766126240 |
1080 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564165440 CA4451412 |
1080 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1371904930 CA368992226 |
1081 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1084 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368992270 rs79635528 |
1085 | H>P | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
CA164966526 rs771259493 |
1087 | A>S | No |
ClinGen Ensembl |
|
|
rs774050249 CA164966544 |
1087 | A>V | No |
ClinGen TOPMed |
|
|
rs1199667380 CA368992298 |
1088 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA368992331 rs1362358357 |
1090 | F>L | No |
ClinGen gnomAD |
|
|
rs752753702 RCV000586571 CA4451414 |
1091 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs925192503 CA164966621 |
1096 | L>R | No |
ClinGen Ensembl |
|
|
rs756579825 CA4451419 |
1097 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368992400 rs756579825 |
1097 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs35813506 CA164966739 |
1102 | R>K | No |
ClinGen gnomAD |
|
|
CA368992474 rs1161781532 |
1103 | I>T | No |
ClinGen TOPMed |
|
|
CA577680856 rs1345477998 |
1105 | M>QIT* | No |
ClinGen gnomAD |
|
|
CA4451423 rs770731635 |
1106 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1107 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775276221 COSM1488158 CA4451426 |
1111 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762831873 CA164966814 |
1114 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1200739289 CA368992589 |
1115 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs764237956 CA4451428 |
1116 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1445994422 CA368992610 |
1119 | I>V | No |
ClinGen TOPMed |
|
|
rs1266565149 CA368992626 |
1121 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1123 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA164968730 rs1044244408 |
1124 | E>K | No |
ClinGen TOPMed |
|
|
CA368993326 rs1178896499 |
1128 | R>K | No |
ClinGen TOPMed |
|
|
rs397508550 CA368993354 |
1130 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1005269197 CA164968795 |
1130 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs397508550 CA368993358 |
1130 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368993372 rs1562916038 |
1131 | I>T | No |
ClinGen Ensembl |
|
|
rs1185498701 CA368993413 |
1134 | T>N | No |
ClinGen TOPMed |
|
|
CA164968816 rs141150961 |
1137 | M>I | No |
ClinGen ESP TOPMed |
|
|
rs774415786 CA4451457 |
1140 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1485239084 CA368993530 |
1141 | S>N | No |
ClinGen TOPMed |
|
|
CA368993552 rs1280722004 |
1142 | T>I | No |
ClinGen TOPMed |
|
|
CA368993571 rs375845215 |
1143 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368993563 rs1235118844 |
1143 | L>S | No |
ClinGen TOPMed |
|
|
CA368993596 rs1274368655 |
1145 | W>* | No |
ClinGen gnomAD |
|
|
CA4451460 rs773511304 |
1146 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA368993613 rs773511304 |
1146 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1202489121 CA368993625 |
1147 | V>E | No |
ClinGen gnomAD |
|
|
rs397508564 CA327189 |
1148 | N>S | No |
ClinGen Ensembl |
|
|
rs1584824264 CA368993655 |
1149 | S>C | No |
ClinGen Ensembl |
|
|
CA4451461 rs374202054 |
1149 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1186803395 CA368993682 |
1151 | I>V | No |
ClinGen gnomAD |
|
|
rs1418778993 CA368993730 |
1154 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA164968943 rs397508569 |
1154 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4451482 rs770114378 |
1157 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164976434 rs1041988265 |
1161 | S>I | No |
ClinGen Ensembl |
|
|
rs776696255 CA164976470 |
1163 | V>G | No |
ClinGen gnomAD |
|
|
CA4451486 rs753508195 |
1165 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4451487 rs754847820 |
1166 | F>L | No |
ClinGen ExAC |
|
|
COSM1643221 rs1352306979 CA368996097 |
1167 | I>V | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA368996147 rs1283230924 |
1169 | M>R | No |
ClinGen gnomAD |
|
|
rs1387464528 CA368996135 |
1169 | M>V | No |
ClinGen TOPMed |
|
|
rs778797502 CA4451488 |
1171 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1195390894 CA368996194 |
1172 | E>Q | No |
ClinGen gnomAD |
|
|
rs397508578 CA368996261 |
1177 | K>E | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen TOPMed |
|
rs777765549 CA4451491 |
1177 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4451492 rs777765549 |
1177 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4451495 rs746050496 |
1181 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4451496 rs770167300 |
1182 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1456016815 CA368996354 |
1183 | K>N | No |
ClinGen gnomAD |
|
|
CA368996369 rs1328494831 |
1184 | N>K | No |
ClinGen gnomAD |
|
|
COSM1200903 CA164976563 rs532200317 |
1185 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA368996393 rs1800121 |
1186 | Q>H | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763298273 CA4451497 |
1187 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs763298273 CA4451498 |
1187 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1188 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451499 rs762167681 |
1188 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4451500 rs765869179 |
1191 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1562919375 RCV000780161 CA368996473 |
1193 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368997051 rs397508584 |
1195 | N>S | No |
ClinGen TOPMed |
|
|
rs397508584 CA327233 |
1195 | N>T | No |
ClinGen TOPMed |
|
|
CA368997061 rs1236840517 |
1196 | S>P | No |
ClinGen TOPMed |
|
|
rs868396901 CA164976615 |
1198 | V>A | No |
ClinGen Ensembl |
|
|
CA4451505 rs576710089 |
1198 | V>L | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs751486159 CA4451506 |
1199 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4451507 rs757314646 |
1200 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs75647395 CA368997159 |
1203 | I>F | No |
ClinGen ESP gnomAD |
|
|
rs121908765 CA368997180 |
1204 | W>C | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368997189 rs1367899158 |
1205 | P>H | No |
ClinGen TOPMed |
|
| rs35396083 | 1208 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364895728 CA368997231 |
1209 | Q>K | No |
ClinGen TOPMed |
|
|
CA327245 rs397508590 |
1210 | M>K | No |
ClinGen Ensembl |
|
|
CA368997278 rs1420428466 |
1212 | V>A | No |
ClinGen TOPMed |
|
|
CA327247 rs397508591 |
1212 | V>I | No |
ClinGen Ensembl |
|
|
rs1266135988 CA368997286 |
1213 | K>Q | No |
ClinGen TOPMed |
|
|
CA368997298 rs1221344688 |
1214 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1391512805 CA368997324 |
1216 | T>A | No |
ClinGen gnomAD |
|
|
rs769032865 CA4451512 |
1219 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1562919434 CA368997396 |
1222 | G>C | No |
ClinGen Ensembl |
|
|
RCV000729099 CA368997401 rs1562919449 |
1222 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA368997444 rs1481648296 |
1226 | I>T | No |
ClinGen gnomAD |
|
|
rs1190355027 CA368997468 |
1228 | E>G | No |
ClinGen gnomAD |
|
|
CA4451516 rs139322772 |
1229 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775263210 CA4451517 |
1230 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA164976744 rs954246847 |
1230 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1282698028 CA368997510 |
1231 | S>Y | No |
ClinGen TOPMed |
|
|
CA368997591 rs751474685 |
1237 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4451519 rs121908766 |
1238 | Q>K | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA164976778 rs915434373 |
1239 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1240 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325095190 CA368974400 |
1240 | V>L | No |
ClinGen TOPMed |
|
|
rs1191342069 CA368974417 |
1241 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1241 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431039536 CA368974429 |
1242 | L>F | No |
ClinGen gnomAD |
|
|
rs1392953776 CA368974442 |
1243 | L>V | No |
ClinGen TOPMed |
|
|
CA368974483 rs397508600 |
1246 | T>S | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM108557 rs148122007 CA164947490 |
1248 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs200837037 CA368974574 |
1251 | S>R | No |
ClinGen gnomAD |
|
|
rs1584836977 CA368974595 |
1252 | T>I | No |
ClinGen Ensembl |
|
|
rs117400534 CA327278 |
1253 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368974648 rs121909041 |
1255 | S>T | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
CA164947572 rs200926076 |
1257 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1258 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs121908789 | 1258 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470171438 CA368974774 |
1259 | R>T | No |
ClinGen gnomAD |
|
|
CA368974787 rs1203054388 |
1260 | L>V | No |
ClinGen TOPMed |
|
|
CA4451545 rs773151957 |
1263 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472139599 CA368974921 |
1264 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1268 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451551 rs765549490 |
1270 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11971167 COSM1180461 CA327294 |
1270 | D>Y | prostate Cystic fibrosis (cf) [Cosmic, Ensembl] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1584837127 CA368975114 |
1271 | G>S | No |
ClinGen Ensembl |
|
|
CA4451552 rs752834717 |
1272 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4451553 rs758867957 |
1277 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1349344071 CA368975301 |
1277 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1286786026 CA368975372 |
1279 | L>W | No |
ClinGen gnomAD |
|
|
CA4451554 rs397508615 |
1281 | Q>E | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368975529 rs397508617 |
1285 | A>D | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368975600 rs1179594445 |
1288 | V>A | No |
ClinGen gnomAD |
|
|
rs771864168 CA4451559 |
1289 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1259304050 CA368975606 |
1289 | I>V | No |
ClinGen gnomAD |
|
|
rs760455218 CA4451561 |
1290 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368977858 rs769931559 |
1293 | V>L | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
| TCGA novel | 1297 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904990724 CA164952589 |
1298 | G>R | No |
ClinGen Ensembl |
|
|
CA4451580 rs764469050 |
1300 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs397508637 | 1303 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs397508636 RCV000586199 CA368978233 |
1303 | N>T | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121909042 CA368978217 |
1303 | N>Y | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen gnomAD |
|
rs1478450897 CA368978249 |
1304 | L>V | No |
ClinGen gnomAD |
|
|
CA4451582 rs201503139 COSM338001 |
1306 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4451584 rs766864834 |
1307 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA4451585 rs193922732 |
1309 | Q>E | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA327351 rs397508644 COSM3394490 |
1309 | Q>H | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs573448832 CA4451586 |
1310 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368978593 rs1408505482 |
1316 | W>R | No |
ClinGen TOPMed |
|
|
CA368978653 rs1232031163 |
1318 | V>I | No |
ClinGen gnomAD |
|
|
CA368978689 rs1330926045 |
1320 | D>N | No |
ClinGen gnomAD |
|
|
rs757100665 CA4451588 |
1321 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756794531 CA4451604 |
1322 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4451603 rs756794531 |
1322 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1231511097 CA368981772 |
1325 | R>G | No |
ClinGen Ensembl |
|
|
CA164960050 rs900007100 |
1327 | V>G | No |
ClinGen TOPMed |
|
|
rs1183192579 CA368981852 |
1327 | V>L | No |
ClinGen gnomAD |
|
|
rs755917129 CA4451606 |
1328 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368981874 rs1251499830 |
1328 | I>V | No |
ClinGen gnomAD |
|
|
CA164960079 rs375661578 |
1330 | Q>E | No |
ClinGen ESP gnomAD |
|
| rs1057516457 | 1330 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780170679 CA4451607 |
1331 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368982138 rs1283483930 |
1336 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 1337 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs544710550 CA4451608 |
1339 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748251646 CA4451609 |
1341 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA368982319 rs1245455454 |
1342 | G>E | No |
ClinGen TOPMed |
|
|
CA4451612 rs773458471 |
1343 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371379517 CA368982388 |
1345 | V>I | No |
ClinGen TOPMed |
|
|
CA4451614 rs777147679 |
1347 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA368982612 rs1300867348 |
1351 | K>R | No |
ClinGen Ensembl |
|
|
CA4451617 rs751098333 |
1352 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374276008 CA164960226 |
1353 | L>F | No |
ClinGen Ensembl |
|
|
rs779937212 CA4451619 |
1354 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4451620 rs753830751 |
1355 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA368982655 rs1252048837 |
1356 | L>S | No |
ClinGen TOPMed |
|
|
CA368982681 rs1186085927 |
1358 | R>G | No |
ClinGen gnomAD |
|
|
rs748223886 CA4451623 |
1358 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA368982700 rs1429889418 |
1359 | S>C | No |
ClinGen gnomAD |
|
|
rs1554397515 RCV000508389 |
1360 | V>missing | No |
ClinVar dbSNP |
|
|
CA164960245 rs1018168224 |
1360 | V>D | No |
ClinGen TOPMed |
|
|
rs1288541622 CA368982707 |
1360 | V>I | No |
ClinGen TOPMed |
|
|
CA4451626 rs777892053 |
1362 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA368982749 rs1303156616 |
1363 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368982833 rs761271867 |
1366 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767002769 CA4451631 |
1369 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767002769 RCV001283969 |
1369 | L>V | No |
ClinVar dbSNP |
|
|
CA4451634 rs766124395 |
1370 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760336091 CA4451633 |
1370 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4451635 rs397508678 |
1375 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1376 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4451636 rs752637215 |
1378 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758433792 CA4451637 |
1379 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA368983314 rs1464455366 |
1380 | T>I | No |
ClinGen gnomAD |
|
|
rs776388660 CA4451652 |
1381 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765036437 CA4451655 |
1382 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs397508684 CA4451653 |
1382 | Q>K | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368983385 rs1438770412 |
1385 | R>G | No |
ClinGen gnomAD |
|
|
CA368983403 rs1294335109 |
1386 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1386 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1392 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758292940 CA4451656 |
1392 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA368983539 rs1328328881 |
1394 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368983535 rs1403351382 |
1394 | D>H | No |
ClinGen gnomAD |
|
|
rs1282831495 CA368983579 |
1396 | T>R | No |
ClinGen gnomAD |
|
|
rs397508695 CA327446 |
1400 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1400 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs397508697 CA327451 |
1401 | E>A | No |
ClinGen Ensembl |
|
|
CA4451662 rs780396890 |
1403 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970498675 CA164960716 |
1403 | R>W | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs1472169197 CA368983720 |
1404 | I>M | No |
ClinGen gnomAD |
|
|
CA368983750 rs1328842974 |
1407 | M>T | No |
ClinGen TOPMed |
|
|
rs1562929177 CA368983779 |
1410 | C>S | No |
ClinGen Ensembl |
|
|
CA368983823 rs142092183 |
1413 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779591474 CA4451678 |
1415 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1327206717 CA368984423 |
1419 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1461912555 CA368984421 |
1419 | N>T | No |
ClinGen TOPMed |
|
|
CA368984451 rs578237673 |
1421 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780785939 CA368984467 |
1422 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA368984565 rs1485675214 |
1428 | Q>R | No |
ClinGen TOPMed |
|
|
CA368984645 rs1241265035 |
1431 | L>R | No |
ClinGen gnomAD |
|
|
rs1562929573 RCV000780136 |
1436 | L>missing | No |
ClinVar dbSNP |
|
|
CA4451690 rs760649031 |
1436 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA368984760 rs975983947 |
1438 | R>P | No |
ClinGen TOPMed |
|
|
CA368984818 rs1475182665 |
1440 | A>T | No |
ClinGen gnomAD |
|
|
rs1166409405 CA368984835 |
1441 | I>V | No |
ClinGen gnomAD |
|
|
COSM202028 CA368984880 CA4451692 rs753963572 |
1442 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1336644939 CA368984887 |
1443 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1336644939 CA368984891 |
1443 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755388886 CA4451693 |
1444 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778414934 CA4451696 |
1450 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs141554123 CA4451699 |
1453 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1584850258 CA368985140 |
1456 | S>C | No |
ClinGen Ensembl |
|
|
rs1584850258 CA368985136 |
1456 | S>R | No |
ClinGen Ensembl |
|
|
rs774196298 CA4451701 |
1457 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1436757515 CA368985199 |
1460 | S>Y | No |
ClinGen TOPMed |
|
|
rs1191325047 CA368985202 |
1461 | K>E | No |
ClinGen gnomAD |
|
|
RCV000312610 rs886044425 CA10606738 |
1463 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs772046085 CA4451702 |
1464 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1474 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA164961971 rs891768901 |
1474 | E>V | No |
ClinGen Ensembl |
|
|
rs369464175 CA4451704 |
1475 | V>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1233730802 CA368985387 |
1476 | Q>H | No |
ClinGen TOPMed |
|
|
rs753173837 CA368985420 |
1478 | T>I | Cystic fibrosis (cf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1403933625 CA368985464 |
1481 | L>Y | No |
ClinGen gnomAD |
No associated diseases with P13569
5 regional properties for P13569
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sec7 domain | 643 - 834 | IPR000904 |
| domain | Mon2/Sec7/BIG1-like, HDS | 1174 - 1255 | IPR015403 |
| domain | Mon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain | 23 - 198 | IPR032629 |
| domain | Mon2/Sec7/BIG1-like, HUS domain | 378 - 536 | IPR032691 |
| domain | Sec7/BIG1-like, C-terminal domain | 1561 - 1766 | IPR046455 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.6.1.6 | Enzymes altering polypeptide conformation or assembly |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
20 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| clathrin-coated endocytic vesicle membrane | The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| Golgi-associated vesicle membrane | The lipid bilayer surrounding a vesicle associated with the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
| recycling endosome membrane | The lipid bilayer surrounding a recycling endosome. |
16 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type transporter activity | Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled inorganic anion transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in). |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
| bicarbonate transmembrane transporter activity | Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| chloride channel inhibitor activity | Binds to and stops, prevents, or reduces the activity of a chloride channel. |
| chloride channel regulator activity | Binds to and modulates the activity of a chloride channel. |
| chloride transmembrane transporter activity | Enables the transfer of chloride ions from one side of a membrane to the other. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| intracellularly ATP-gated chloride channel activity | Enables passage of a chloride ion through a transmembrane channel that opens when ATP is bound by the channel complex or one of its constituent parts on the intracellular side of the plasma membrane. |
| isomerase activity | Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| Sec61 translocon complex binding | Binding to a Sec61 translocon complex. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| amelogenesis | The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. |
| bicarbonate transport | The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| cellular response to cAMP | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| cellular response to forskolin | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a forskolin stimulus. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| cholesterol biosynthetic process | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| cholesterol transport | The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| intracellular pH elevation | Any process that increases the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| membrane hyperpolarization | The process in which membrane potential increases with respect to its steady-state potential, usually from negative potential to a more negative potential. For example, during the repolarization phase of an action potential the membrane potential often becomes more negative or hyperpolarized before returning to the steady-state resting potential. |
| multicellular organismal water homeostasis | Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism. |
| positive regulation of cyclic nucleotide-gated ion channel activity | Any process that activates or increases the frequency, rate or extent of cyclic nucleotide-gated ion channel activity. |
| positive regulation of enamel mineralization | Any process that activates or increases the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel. |
| positive regulation of exocytosis | Any process that activates or increases the frequency, rate or extent of exocytosis. |
| positive regulation of insulin secretion involved in cellular response to glucose stimulus | Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. |
| positive regulation of voltage-gated chloride channel activity | Any process that activates or increases the frequency, rate or extent of voltage-gated chloride channel activity. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| sperm capacitation | A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. |
| transepithelial water transport | The directed movement of water (H2O) from one side of an epithelium to the other. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| vesicle docking involved in exocytosis | The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8HXQ5 | ABCC1 | Multidrug resistance-associated protein 1 | Bos taurus (Bovine) | PR |
| Q2QLE5 | CFTR | Cystic fibrosis transmembrane conductance regulator | Pan troglodytes (Chimpanzee) | PR |
| Q5U820 | CFTR | Cystic fibrosis transmembrane conductance regulator | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P91660 | Rh5 | Probable multidrug resistance-associated protein lethal(2)03659 | Drosophila melanogaster (Fruit fly) | PR |
| Q2QLA3 | CFTR | Cystic fibrosis transmembrane conductance regulator | Equus caballus (Horse) | PR |
| O15438 | ABCC3 | ATP-binding cassette sub-family C member 3 | Homo sapiens (Human) | PR |
| O95255 | ABCC6 | ATP-binding cassette sub-family C member 6 | Homo sapiens (Human) | PR |
| Q92887 | ABCC2 | ATP-binding cassette sub-family C member 2 | Homo sapiens (Human) | SS |
| P33527 | ABCC1 | Multidrug resistance-associated protein 1 | Homo sapiens (Human) | PR |
| Q96J66 | ABCC11 | ATP-binding cassette sub-family C member 11 | Homo sapiens (Human) | PR |
| O15439 | ABCC4 | ATP-binding cassette sub-family C member 4 | Homo sapiens (Human) | PR |
| B2RX12 | Abcc3 | ATP-binding cassette sub-family C member 3 | Mus musculus (Mouse) | PR |
| Q8VI47 | Abcc2 | ATP-binding cassette sub-family C member 2 | Mus musculus (Mouse) | SS |
| O35379 | Abcc1 | Multidrug resistance-associated protein 1 | Mus musculus (Mouse) | PR |
| Q80WJ6 | Abcc12 | ATP-binding cassette sub-family C member 12 | Mus musculus (Mouse) | PR |
| P26361 | Cftr | Cystic fibrosis transmembrane conductance regulator | Mus musculus (Mouse) | PR |
| Q6PQZ2 | CFTR | Cystic fibrosis transmembrane conductance regulator | Sus scrofa (Pig) | PR |
| Q6Y306 | Abcc12 | ATP-binding cassette sub-family C member 12 | Rattus norvegicus (Rat) | PR |
| Q8CG09 | Abcc1 | Multidrug resistance-associated protein 1 | Rattus norvegicus (Rat) | PR |
| Q63120 | Abcc2 | ATP-binding cassette sub-family C member 2 | Rattus norvegicus (Rat) | EV |
| Q00553 | CFTR | Cystic fibrosis transmembrane conductance regulator | Macaca mulatta (Rhesus macaque) | PR |
| Q9C8G9 | ABCC1 | ABC transporter C family member 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8H0 | ABCC12 | ABC transporter C family member 12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SKX0 | ABCC13 | ABC transporter C family member 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VZZ4 | ABCC6 | ABC transporter C family member 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1C7 | ABCC9 | ABC transporter C family member 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQRSPLEKAS | VVSKLFFSWT | RPILRKGYRQ | RLELSDIYQI | PSVDSADNLS | EKLEREWDRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LASKKNPKLI | NALRRCFFWR | FMFYGIFLYL | GEVTKAVQPL | LLGRIIASYD | PDNKEERSIA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IYLGIGLCLL | FIVRTLLLHP | AIFGLHHIGM | QMRIAMFSLI | YKKTLKLSSR | VLDKISIGQL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSLLSNNLNK | FDEGLALAHF | VWIAPLQVAL | LMGLIWELLQ | ASAFCGLGFL | IVLALFQAGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRMMMKYRDQ | RAGKISERLV | ITSEMIENIQ | SVKAYCWEEA | MEKMIENLRQ | TELKLTRKAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YVRYFNSSAF | FFSGFFVVFL | SVLPYALIKG | IILRKIFTTI | SFCIVLRMAV | TRQFPWAVQT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WYDSLGAINK | IQDFLQKQEY | KTLEYNLTTT | EVVMENVTAF | WEEGFGELFE | KAKQNNNNRK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TSNGDDSLFF | SNFSLLGTPV | LKDINFKIER | GQLLAVAGST | GAGKTSLLMV | IMGELEPSEG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KIKHSGRISF | CSQFSWIMPG | TIKENIIFGV | SYDEYRYRSV | IKACQLEEDI | SKFAEKDNIV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LGEGGITLSG | GQRARISLAR | AVYKDADLYL | LDSPFGYLDV | LTEKEIFESC | VCKLMANKTR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ILVTSKMEHL | KKADKILILH | EGSSYFYGTF | SELQNLQPDF | SSKLMGCDSF | DQFSAERRNS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ILTETLHRFS | LEGDAPVSWT | ETKKQSFKQT | GEFGEKRKNS | ILNPINSIRK | FSIVQKTPLQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MNGIEEDSDE | PLERRLSLVP | DSEQGEAILP | RISVISTGPT | LQARRRQSVL | NLMTHSVNQG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QNIHRKTTAS | TRKVSLAPQA | NLTELDIYSR | RLSQETGLEI | SEEINEEDLK | ECFFDDMESI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PAVTTWNTYL | RYITVHKSLI | FVLIWCLVIF | LAEVAASLVV | LWLLGNTPLQ | DKGNSTHSRN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NSYAVIITST | SSYYVFYIYV | GVADTLLAMG | FFRGLPLVHT | LITVSKILHH | KMLHSVLQAP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| MSTLNTLKAG | GILNRFSKDI | AILDDLLPLT | IFDFIQLLLI | VIGAIAVVAV | LQPYIFVATV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PVIVAFIMLR | AYFLQTSQQL | KQLESEGRSP | IFTHLVTSLK | GLWTLRAFGR | QPYFETLFHK |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ALNLHTANWF | LYLSTLRWFQ | MRIEMIFVIF | FIAVTFISIL | TTGEGEGRVG | IILTLAMNIM |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| STLQWAVNSS | IDVDSLMRSV | SRVFKFIDMP | TEGKPTKSTK | PYKNGQLSKV | MIIENSHVKK |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| DDIWPSGGQM | TVKDLTAKYT | EGGNAILENI | SFSISPGQRV | GLLGRTGSGK | STLLSAFLRL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| LNTEGEIQID | GVSWDSITLQ | QWRKAFGVIP | QKVFIFSGTF | RKNLDPYEQW | SDQEIWKVAD |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EVGLRSVIEQ | FPGKLDFVLV | DGGCVLSHGH | KQLMCLARSV | LSKAKILLLD | EPSAHLDPVT |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| YQIIRRTLKQ | AFADCTVILC | EHRIEAMLEC | QQFLVIEENK | VRQYDSIQKL | LNERSLFRQA |
| 1450 | 1460 | 1470 | |||
| ISPSDRVKLF | PHRNSSKCKS | KPQIAALKEE | TEEEVQDTRL |