P46531
EV
Gene name |
NOTCH1 (TAN1) |
Protein name |
Neurogenic locus notch homolog protein 1 |
Names |
Notch 1, hN1, Translocation-associated notch protein TAN-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4851 |
EC number |
|
Protein Class |
NOTCH LIGAND FAMILY MEMBER (PTHR24044) |
Descriptions
NOTCH1 is a neurogenic locus notch homolog protein 1 and belongs to the NOTCH family of proteins that regulate cell growth, proliferation, differentiation and apoptosis in both embryonic and adult tissues. The negative regulatory region (NRR) of NOTCH1 contains three Lin12/Notch repeats (LNR-A, LNR-B, and LNR-C). The LNR-C hydrophobic residues pack against the heterodimerization (HD) domain core. In addition, the LNR-B, the linker between LNR-A and LNR-B, and the C-terminus of LNR-A wrap around the HD domain, thus masking the metalloprotease site (S2) and preventing exposure to receptor activation. For the activation of NOTCH1, the LNR-A, LNR-AB linker, and LNR-B must be removed.
Autoinhibitory domains (AIDs)
Target domain |
1564-1726 (HD domain) |
Relief mechanism |
Cleavage |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
References
- Gordon WR et al. (2007) "Structural basis for autoinhibition of Notch", Nature structural & molecular biology, 14, 295-300
- Tiyanont K et al. (2011) "Evidence for increased exposure of the Notch1 metalloprotease cleavage site upon conversion to an activated conformation", Structure (London, England : 1993), 19, 546-54
- Gordon WR et al. (2009) "Structure of the Notch1-negative regulatory region: implications for normal activation and pathogenic signaling in T-ALL", Blood, 113, 4381-90
Autoinhibited structure
Activated structure
28 structures for P46531
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1PB5 | NMR | - | A | 1446-1480 | PDB |
| 1TOZ | NMR | - | A | 411-526 | PDB |
| 1YYH | X-ray | 190 A | A/B | 1872-2114 | PDB |
| 2F8X | X-ray | 325 A | K | 1872-2126 | PDB |
| 2F8Y | X-ray | 155 A | A/B | 1905-2126 | PDB |
| 2HE0 | X-ray | 190 A | A/B | 1872-2114 | PDB |
| 2VJ3 | X-ray | 260 A | A | 411-526 | PDB |
| 3ETO | X-ray | 200 A | A/B | 1446-1733 | PDB |
| 3I08 | X-ray | 320 A | PDB | ||
| 3L95 | X-ray | 219 A | X/Y | 1448-1728 | PDB |
| 3NBN | X-ray | 345 A | B/E | 1872-2126 | PDB |
| 3V79 | X-ray | 385 A | PDB | ||
| 4CUD | X-ray | 185 A | A | 411-526 | PDB |
| 4CUE | X-ray | 300 A | A | 411-526 | PDB |
| 4CUF | X-ray | 229 A | A | 411-526 | PDB |
| 4D0E | X-ray | 161 A | A | 411-526 | PDB |
| 4D0F | X-ray | 280 A | A | 411-526 | PDB |
| 5FM9 | X-ray | 292 A | A | 140-294 | PDB |
| 5FMA | X-ray | 246 A | A/B | 142-294 | PDB |
| 5KZO | NMR | - | A | 1721-1771 | PDB |
| 5L0R | X-ray | 150 A | B | 452-491 | PDB |
| 5UB5 | X-ray | 209 A | B | 452-491 | PDB |
| 6IDF | EM | 270 A | E | 1721-1821 | PDB |
| 6PY8 | X-ray | 375 A | F/K | 1759-2127 | PDB |
| 8OR5 | NMR | - | A | 1734-1760 | PDB |
| 8ORY | NMR | - | A | 1734-1757 | PDB |
| 8ORZ | NMR | - | A | 1734-1757 | PDB |
| AF-P46531-F1 | Predicted | AlphaFoldDB |
2214 variants for P46531
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA201608708 rs975429231 RCV000693595 |
2 | P>A | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1564217184 CA375579892 RCV000697592 |
6 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375579881 rs1554733804 RCV000532252 |
7 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000620122 RCV001855279 rs1554733799 CA375579751 |
20 | R>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000769618 RCV000121673 rs114832250 RCV001573152 RCV000232532 CA161173 RCV000245653 |
22 | P>S | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs869025260 CA351614 RCV000207428 |
23 | R>L | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000462159 rs769784635 CA5342260 |
27 | P>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5342237 rs757497167 RCV000477441 |
53 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375573182 rs1348892740 RCV000624179 |
56 | R>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5342220 RCV000527952 rs768517628 |
79 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs571831870 RCV000818288 CA375572940 |
82 | V>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000701769 rs571831870 RCV000494580 CA5342218 |
82 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373941045 RCV000233097 CA10582649 |
86 | A>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000621131 rs1554730737 RCV000700446 CA658797368 |
90 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1397413424 CA375572842 RCV000694054 |
92 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs746491686 CA201590484 RCV000705656 |
101 | P>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA161211 RCV000228385 RCV000121692 RCV000660138 RCV000621483 rs199654211 |
104 | N>S | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA375572652 rs1399392600 RCV000769616 |
112 | R>C | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000522642 RCV001199078 CA5342204 RCV001851497 rs768625801 |
112 | R>H | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000226352 rs187473846 RCV000242679 RCV000121694 CA161215 |
123 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000558664 rs754086897 CA5342193 RCV000430313 |
128 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001255179 rs1843413593 |
130 | P>missing | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5342190 RCV000709909 rs750539322 |
130 | P>L | NOTCH1-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554730670 RCV000662235 CA375571821 |
139 | Q>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750242131 CA5342147 RCV000476532 |
152 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370951369 RCV000619355 RCV001170711 CA5342140 |
167 | P>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA891843342 rs1564203258 RCV000696237 |
176 | R>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466090 CA5342134 rs375065108 |
176 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001197227 CA5342130 rs750295442 |
187 | G>R | Aortic valve disease 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774966208 CA10602398 RCV000408653 |
193 | G>D | Tetralogy of Fallot Tetralogy of fallot (tof) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5342122 RCV000988305 rs770333242 RCV001170710 |
194 | T>P | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5342112 RCV000655223 rs745817995 |
208 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001478491 RCV001591389 RCV000617575 CA5342111 rs376902925 |
211 | T>A | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5342110 rs757003332 RCV001044587 |
217 | R>W | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000208268 rs869025493 CA351907 |
232 | T>N | Ehlers-Danlos syndrome, type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000617664 CA161245 RCV000769613 RCV000234727 rs150737112 RCV000121709 RCV000660139 |
234 | R>H | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5342099 RCV000655242 rs537766290 |
236 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000456752 rs755667439 CA5342048 |
251 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000764822 RCV000523362 rs763187824 RCV000253079 CA5342042 |
259 | D>N | Aortic valve disease 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554730184 RCV000662236 |
265 | N>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5342031 RCV000460912 rs371333249 |
275 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs367825691 RCV000471470 CA5342028 RCV000764821 |
280 | N>S | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376104770 RCV001815410 RCV000621230 CA5342025 RCV000537829 |
284 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16612838 RCV000477031 rs1060502232 |
298 | E>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001170709 rs202145498 CA5341975 |
311 | T>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5341974 rs202145498 RCV000988304 |
311 | T>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749696049 RCV001860404 CA5341970 RCV001771834 RCV000621196 |
317 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001043873 rs1843318767 |
321 | C>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201236538 RCV000988303 CA5341944 |
348 | A>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000988302 RCV000769610 CA5341942 rs200520088 |
349 | T>P | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1843316084 RCV001335840 |
357 | F>missing | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs202235419 RCV001291512 |
359 | C>* | Hypoplastic left heart syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375565237 RCV000655244 rs775991013 |
365 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000699375 CA375565107 rs1564199987 |
370 | C>Y | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000523401 RCV000700981 rs1037236860 CA201587612 |
402 | S>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001856231 CA5341882 RCV000788985 rs754529382 |
407 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000205720 CA349836 rs754529382 |
407 | P>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000769608 RCV000700880 rs373770404 CA5341879 |
413 | V>M | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5341876 rs757631575 RCV000655265 |
417 | S>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000620882 RCV001860402 CA201587577 rs928512979 |
421 | N>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16612753 RCV000472903 rs528033027 |
426 | A>G | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587777736 RCV000144235 VAR_071960 CA211323 |
429 | C>R | Adams-Oliver syndrome 5 AOS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs200562991 RCV000619636 RCV000764820 RCV000687329 CA5341838 |
432 | T>M | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16612689 rs1060502238 RCV000457059 |
437 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000617584 RCV000208487 CA352076 rs869025494 |
448 | R>* | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622056 RCV000203986 CA348264 |
448 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205123 CA349327 rs864622057 |
449 | C>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000623875 CA375563072 rs1554729950 |
455 | E>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349951 rs864622058 RCV000205841 |
456 | C>Y | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16605792 rs1057523819 RCV000434097 RCV000662246 |
465 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564199476 RCV000693336 |
466 | T>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266195 rs1843299891 |
477 | I>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694504 rs1448146225 CA375562777 |
481 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000534753 rs1554729862 CA375562471 |
493 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752071569 RCV000559630 CA5341764 |
504 | R>C | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201768800 RCV000597266 RCV000234132 CA5341763 |
504 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473399 CA16612748 rs1060502240 |
505 | C>Y | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs377535397 CA5341750 RCV000414547 RCV000655289 |
518 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000655250 CA5341710 rs757988142 |
528 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000203698 CA348000 rs864622059 |
550 | Y>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001335842 rs1843262478 |
550 | Y>D | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1843262329 RCV001291513 |
551 | T>missing | Hypoplastic left heart syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687258 rs560030759 CA5341660 |
561 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5341657 rs750330670 RCV000696741 |
565 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA161141 RCV000121657 RCV000764819 rs369067940 |
567 | I>V | Aortic valve disease 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000121659 CA161145 RCV002055370 rs562413261 |
568 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA201587102 rs1008678112 RCV000769604 |
571 | D>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375560379 RCV000494050 rs373125283 RCV000541112 |
571 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA201587097 RCV000769603 rs890104857 |
573 | D>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5341644 rs778992111 RCV000769602 RCV001869066 |
581 | K>E | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs757066417 CA5341640 RCV000769601 |
583 | G>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000522085 rs775217381 RCV000655245 CA5341637 |
585 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5341635 rs764854903 RCV000988301 |
586 | T>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000988300 rs771440130 CA5341632 |
587 | F>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747384159 CA5341631 RCV000988299 |
588 | T>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000252829 RCV001854993 rs544117297 CA5341629 |
592 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10587672 RCV001854980 rs886039014 RCV000244569 RCV001561515 |
593 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000660144 CA5341627 rs61755997 RCV000246067 |
596 | T>M | Connective tissue disorder Aortic valve disease 1 (aovd1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1589066272 RCV000853314 |
604 | I>missing | Heart, malformation of [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781029850 RCV000692364 CA375559781 |
605 | N>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1381792229 CA375559776 RCV001265862 |
606 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5341621 RCV000655247 rs763988265 |
613 | R>C | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764942073 CA5341618 RCV000699565 |
615 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000234523 RCV000121660 RCV000244041 CA161147 RCV000660145 rs138504021 RCV000769600 |
621 | R>H | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000815975 rs367873715 CA5341608 |
622 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA375559391 RCV000655256 rs1307313338 |
640 | I>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554729443 RCV000662237 |
646 | A>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000617959 rs1260932753 CA375559188 RCV000703349 |
658 | K>E | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000519623 RCV000555279 CA5341549 rs201077220 RCV000251143 |
661 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs587782970 CA345864 RCV000143937 |
674 | M>T | Aortic valve disease 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5341499 rs756434709 RCV000660146 |
683 | A>T | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5341497 RCV000769598 rs781473342 |
685 | N>T | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs79782048 RCV000121661 CA161149 RCV000660148 RCV000621400 |
694 | E>K | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs561126575 RCV000618346 CA161151 RCV000544874 RCV000121662 |
703 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373233257 CA5341476 RCV000617237 RCV000700557 |
709 | H>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001330761 rs1843232044 |
718 | N>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000557195 rs199666126 CA5341462 RCV000620479 |
731 | R>W | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5341458 RCV000498590 RCV000770643 RCV000660151 rs201662530 |
736 | G>R | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000545712 RCV000764818 CA5341433 rs200816814 |
740 | D>N | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001799707 rs1284149123 CA375557262 RCV000770642 |
748 | T>N | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001266833 rs1843215798 |
751 | D>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778559 RCV000620336 RCV000121664 RCV000557976 |
755 | N>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680594 rs1271941628 CA375557177 |
756 | E>K | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1454630791 RCV000534147 CA375557079 |
764 | N>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000770641 RCV001855990 rs374434131 CA5341423 |
766 | G>V | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs758073507 CA5341419 RCV000655232 |
773 | S>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000527166 CA5341416 rs377286829 |
776 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5341374 RCV000655230 rs199672693 |
787 | N>D | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000655251 CA375556793 rs1554729118 |
789 | Q>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224901 RCV000198418 |
794 | E>missing | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662248 CA375556698 rs1554729113 |
794 | E>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001170161 rs371627685 |
808 | D>E | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5341361 RCV000458945 rs762729988 |
809 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA072876 rs201620755 RCV000540543 RCV000619212 RCV000207430 |
812 | G>R | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5341357 rs201620755 RCV001170159 |
812 | G>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000408651 rs1057515422 CA10602397 |
813 | Y>* | Aortic valve disease 1 Aortic valve disease 1 (aovd1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000788443 RCV001869206 rs1589064290 CA375556410 |
816 | N>D | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1589064285 RCV001009237 RCV001224858 |
817 | C>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678730 rs1379596542 CA13060715 RCV000693849 |
820 | P>S | Chronic adenoiditis Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000121668 rs559917218 RCV000254053 CA161163 RCV000470027 |
832 | P>L | Adams-Oliver syndrome 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000413713 RCV000552895 rs202144877 CA16042770 |
834 | A>G | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5341287 rs202144877 RCV000529019 |
834 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs377353441 CA5341286 RCV000462955 |
835 | P>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000157394 CA346556 RCV000426450 rs369259434 RCV001857555 |
841 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000660152 rs35136134 RCV000248480 CA161165 RCV000229399 RCV000121669 |
848 | E>K | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000621614 CA5341266 rs199505287 RCV000655238 |
859 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1843168932 RCV001170157 |
865 | T>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5341219 rs368011392 RCV000655227 |
879 | R>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000523567 RCV000476977 CA5341218 rs368011392 |
879 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA161167 RCV000529805 RCV000121670 rs587778563 |
879 | R>W | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs557590721 RCV000530923 CA5341208 |
889 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000655261 CA375554909 rs1554728783 |
889 | G>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5341204 rs578228721 RCV000692753 RCV000619196 |
892 | R>C | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000662249 CA375554824 rs1448345366 |
902 | R>C | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001591392 RCV001855282 CA5341198 rs373075482 RCV000620331 |
902 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs201620358 RCV000121671 CA161169 RCV000250404 RCV000143938 RCV000727058 RCV000608304 RCV000660154 |
912 | R>W | Connective tissue disorder Aortic valve disease 1 Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs878855024 RCV000231293 CA10582646 |
915 | P>A | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000618184 rs367586502 RCV000655233 CA5341151 |
918 | N>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs35962301 RCV000254115 CA5341141 RCV000601009 RCV000544338 |
938 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs554142958 RCV000143939 RCV001497513 RCV000492876 RCV000619674 CA345866 |
938 | R>W | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA375553757 RCV000585786 rs1554728658 |
942 | C>Y | Adenoid cystic carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001330960 rs1843150410 |
951 | S>G | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370797169 CA5341131 RCV000655243 |
955 | R>C | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5341130 rs557049479 RCV000556587 |
955 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs377343669 CA5341125 RCV000476425 |
961 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201053795 RCV000707223 CA5341115 |
970 | T>A | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000703448 rs200699541 CA5341112 RCV000621599 |
973 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5341105 RCV000227995 rs769132985 |
984 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA201581267 rs868369610 RCV000687952 |
995 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201163739 RCV000680592 CA5341070 |
1004 | S>L | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000549664 CA5341066 rs776957107 |
1012 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554728529 RCV000622516 |
1018 | C>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000655228 CA201581151 rs981281975 |
1034 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000764817 rs886039138 CA10587669 RCV000242103 RCV001854991 |
1035 | T>I | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000230547 CA10582645 rs878855025 |
1037 | Q>E | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200207651 CA5341058 RCV000456603 RCV000250118 |
1039 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060502235 RCV000465408 CA16612738 |
1040 | C>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs375931404 CA5341021 RCV000538087 |
1064 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587778566 CA161177 RCV001854665 RCV001753503 RCV000121675 |
1071 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs758471372 RCV000465938 CA5341008 |
1082 | R>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766361207 CA375552149 RCV000701733 |
1084 | E>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001855363 RCV000657938 rs531420022 CA5341003 |
1088 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554728428 RCV000655252 CA375552057 |
1089 | W>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000655241 rs761508282 CA5341001 |
1090 | T>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5340999 rs768095251 RCV000233859 |
1091 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554728424 CA375551967 RCV000662250 |
1094 | C>Y | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001851821 RCV000013294 CA122441 rs41309764 RCV001781254 |
1107 | R>* | Aortic valve disease 1 Adams-Oliver syndrome 5 Aortic valve disease 1 (aovd1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000526555 CA5340989 rs756087913 |
1107 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000706361 CA5340954 rs370696201 |
1112 | V>I | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375551482 RCV000705126 rs1564192948 |
1124 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463462 CA5340941 rs200871631 |
1125 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000539156 CA161179 RCV000121676 RCV000621999 rs374230681 |
1134 | Q>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554728380 RCV000551483 CA375551306 |
1135 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466390 rs1060502239 CA16612584 |
1148 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5340922 RCV000458674 rs549630973 |
1157 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA375549896 rs775438678 RCV000697399 |
1190 | H>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000121678 CA161183 RCV000655259 rs544640305 |
1200 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554728268 CA375549744 RCV001855281 RCV000619759 |
1202 | P>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532992 RCV000660159 CA5340831 rs112900950 |
1222 | V>M | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750169914 RCV000618644 CA5340821 RCV000540757 |
1232 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000553375 CA5340817 rs749988739 |
1236 | P>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5340812 rs781658171 RCV000694420 |
1247 | Q>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057515423 RCV000408649 CA10602396 |
1255 | C>* | Aortic valve disease 1 Aortic valve disease 1 (aovd1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA161185 RCV000770632 RCV000121679 rs80340744 RCV000620770 |
1256 | P>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs377594681 RCV000655268 CA5340800 |
1263 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5340794 RCV000655260 rs550872754 |
1277 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs61751543 CA161187 RCV000121680 RCV000229594 RCV000618848 |
1279 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5340787 RCV000519706 RCV000693083 rs756972680 |
1285 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000680590 rs763679772 RCV000690352 CA5340785 |
1287 | R>H | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5340781 RCV000466504 rs372348365 |
1292 | H>Y | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375548937 RCV000655271 rs1227711223 |
1301 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768775024 RCV000576544 CA5340757 RCV000559743 |
1303 | R>H | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754634957 CA5340748 RCV000655257 |
1318 | N>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000461377 rs896438598 CA16612680 |
1325 | A>D | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000617671 rs1043832212 RCV000655253 CA16618803 RCV000481924 |
1337 | P>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1131692021 CA375548420 RCV000494578 RCV001201458 |
1339 | G>A | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5340705 RCV000548273 rs369654090 |
1343 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000121682 RCV000660161 rs183156491 RCV000246848 CA161191 |
1343 | A>V | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5340704 RCV000523711 RCV000770630 rs201215245 RCV000620997 |
1344 | T>M | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375548392 rs201215245 RCV000770631 |
1344 | T>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554728034 RCV000585751 |
1349 | A>missing | Adenoid cystic carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5340701 RCV000687982 rs752951296 |
1349 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5340699 rs150343794 RCV000689421 |
1350 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000621899 CA161201 RCV000121687 RCV000680588 RCV000474130 rs150343794 RCV000770629 |
1350 | R>L | Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs150343794 RCV000655263 CA5340700 |
1350 | R>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA350323 RCV000206262 rs864622727 |
1356 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1564191302 RCV000685921 CA375649962 |
1357 | C>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000616273 rs778270588 CA5340688 RCV000622154 RCV000226269 |
1366 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs864622060 CA349407 RCV000205222 |
1374 | C>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA161195 RCV000121684 rs61751542 RCV000621652 RCV000230241 |
1377 | P>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5340674 RCV000472629 rs367710569 |
1386 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587778569 RCV000662251 CA375648951 |
1408 | E>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687309 rs587778569 CA161203 RCV000121688 |
1408 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371068504 RCV000766060 RCV000471799 CA5340660 RCV000248136 |
1413 | R>H | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1348438354 CA375648820 RCV000706936 |
1413 | R>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA375648784 rs1554728005 RCV000662254 |
1414 | C>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000655264 CA201644971 rs954507677 |
1424 | L>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1843069355 RCV001330961 |
1432 | F>I | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000549909 rs371303106 CA5340652 |
1436 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000461782 RCV000766059 rs61751541 RCV000619426 CA5340647 |
1438 | R>H | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001171103 rs1843068742 |
1438 | R>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686188 CA375648163 rs1198437870 |
1446 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5340633 rs147841035 RCV000697092 |
1450 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200495793 RCV000468014 RCV000619622 CA5340629 |
1458 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5340621 RCV000705534 rs376799353 |
1471 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5340614 RCV000770628 rs759828439 |
1484 | N>S | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5340609 rs369915496 RCV000471927 RCV000766058 RCV000621410 |
1491 | T>M | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_071961 CA345933 RCV000144236 rs587781259 |
1496 | C>Y | Adams-Oliver syndrome 5 AOS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs41309766 RCV000013295 |
1505 | C>missing | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554727954 CA375646665 RCV000662252 |
1517 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000655249 rs1055806143 CA201644106 |
1547 | Q>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000206255 CA350320 rs746342893 |
1555 | E>* | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5340542 rs746342893 RCV000702684 |
1555 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1333725995 RCV000655240 CA375645443 |
1567 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000204161 rs864622061 |
1580 | M>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249662 rs1843055667 |
1587 | N>missing | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA204406 rs796065341 RCV000190416 |
1592 | F>C | Early T cell progenitor acute lymphoblastic leukemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564190486 RCV000690432 CA375644984 |
1597 | S>I | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755124691 RCV000655234 CA5340516 RCV000618479 |
1598 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000766057 rs543770603 CA5340515 RCV000704495 |
1599 | V>M | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000770625 rs76371972 RCV000227779 CA161205 RCV000252391 RCV000121689 RCV000424103 |
1608 | R>H | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs369467132 RCV000233482 CA5340507 |
1610 | A>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375644795 rs1554727837 RCV000552023 |
1610 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs187112709 CA201643915 RCV001171101 |
1623 | E>K | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA16612576 rs946083212 RCV000460526 |
1627 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000227065 rs878855026 CA10582644 |
1639 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000544764 rs976118697 CA201643844 |
1640 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16602788 RCV000434852 rs1057519863 |
1642 | D>H | Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000770622 CA375644257 rs1243453790 |
1651 | S>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs367838230 RCV000476688 CA346558 RCV000157395 |
1657 | S>R | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774808496 CA5340485 RCV001702558 RCV000768033 RCV001869058 |
1662 | R>Q | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749490844 CA5340483 RCV000620626 RCV000557460 RCV000766056 |
1663 | R>Q | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_046618 RCV000121690 RCV000619494 RCV000233898 RCV000769596 CA161207 rs2229968 |
1671 | V>I | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA079784 RCV000208387 rs745901158 |
1672 | R>C | Aortic valve disease 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375643897 rs1226514285 RCV000533504 RCV000619894 |
1673 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000468891 rs375408767 CA5340453 |
1675 | I>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA163410 RCV000128630 rs515726233 |
1687 | Q>H | Heart, malformation of [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5340449 rs552065719 RCV000464312 |
1690 | S>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs375897519 RCV000766055 RCV000469842 CA5340369 |
1730 | P>L | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768040014 RCV000655231 CA5340365 |
1732 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626939 rs377294245 CA5340358 RCV000619364 |
1739 | V>M | Bicuspid aortic valve [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA349421 RCV000205238 rs864622062 |
1740 | A>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000428861 CA5340353 rs760669267 RCV000471204 |
1742 | A>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554727492 RCV000660173 CA375640826 |
1754 | V>M | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777859108 CA5340340 RCV000662255 |
1758 | R>G | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs515726231 RCV000128631 |
1761 | R>missing | Heart, malformation of [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750318685 CA375640736 RCV000551137 |
1761 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs942439472 RCV000655237 CA201641650 |
1762 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1356199208 RCV000558986 CA375640729 |
1762 | R>W | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1198855127 RCV000547801 CA375640368 |
1789 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000528056 rs369526652 CA5340281 |
1803 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201779159 CA5340279 RCV000620542 RCV000655262 RCV000594908 |
1805 | L>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs114479009 RCV000706747 CA5340277 |
1806 | M>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1843005523 RCV001195758 |
1810 | Q>H | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16618801 RCV000621478 RCV000662262 rs1064796983 RCV000484133 |
1818 | L>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs765309913 RCV000232106 CA5340262 |
1824 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000655224 RCV000489091 rs1085307869 CA375639517 |
1831 | L>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs73668312 CA375639462 RCV000548714 |
1834 | L>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000228495 rs878855027 CA10582642 |
1846 | Q>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878855028 CA10582641 RCV000232476 |
1854 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5340207 RCV000620392 rs779337715 RCV000698240 |
1858 | M>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000226317 rs200603539 CA5340199 |
1869 | A>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs750185397 RCV001335844 |
1887 | I>M | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5340151 rs746237272 RCV000252312 RCV000687731 |
1897 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000472507 CA5340147 rs200190466 |
1900 | S>G | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs779880917 CA201638579 RCV000655270 |
1906 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771407924 RCV000655272 CA5340130 |
1926 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554826860 RCV000553914 CA375637168 |
1927 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5340119 RCV000477303 rs371414501 |
1944 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554826746 RCV000623489 RCV001849412 CA375634921 |
1984 | R>* | KA-like vemurafenib-induced squamous lesions Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777734 VAR_071962 CA345931 RCV000144233 |
1989 | D>N | Adams-Oliver syndrome 5 AOS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA5340068 RCV000699600 rs759553984 |
1991 | R>C | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000555969 CA375634790 rs1371022203 |
1991 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1454512890 RCV000531729 RCV000519774 CA375634735 |
1994 | D>G | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1589054568 RCV000984757 CA375634427 |
2011 | L>P | Esophageal atresia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622063 RCV000206353 |
2017 | S>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5340053 rs752928106 RCV000469574 |
2020 | D>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759643831 CA5340051 RCV000806126 |
2021 | V>I | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000662256 rs1554826698 CA375634088 |
2034 | W>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612673 RCV000468389 RCV000709944 rs1060502237 |
2037 | A>S | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375633963 RCV000662257 rs1554826688 |
2043 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5340008 rs759344174 RCV000655269 |
2050 | N>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000208466 rs567909904 CA353686 |
2069 | A>T | Marfan syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5339964 RCV002067456 rs549258808 RCV000827503 |
2075 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16612815 RCV000464193 RCV000660176 rs1022510242 |
2076 | T>I | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000699543 rs759749364 CA5339961 |
2077 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000655225 CA375632089 rs1554826539 |
2092 | H>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756874994 CA5339950 RCV000545147 |
2095 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759998676 RCV000686127 CA5339944 |
2098 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs748138179 RCV000697858 CA5339938 |
2105 | M>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375631942 rs777219891 RCV000655239 |
2115 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000414999 CA16043671 rs1057518661 |
2116 | Y>* | Aortic valve disease 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761054017 CA5339924 RCV000467318 |
2121 | S>N | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs767587816 RCV000468254 CA5339922 |
2122 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5339918 rs572960572 RCV000229962 |
2126 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000417730 CA5339910 rs61733294 RCV000769588 RCV000242989 RCV000475797 |
2133 | P>S | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756571156 RCV000705179 CA5339908 |
2138 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001346488 rs1842932983 |
2139 | L>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA077275 rs767822693 RCV000208147 |
2141 | S>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs116317506 RCV000769587 CA161225 RCV000470160 RCV000618936 RCV000121699 |
2152 | G>R | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs375073677 RCV000655235 CA5339894 |
2153 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA201633975 RCV000655255 rs1035043614 |
2155 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1564568574 RCV000697365 CA375631602 |
2157 | K>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000472536 CA5339891 rs371742334 |
2159 | R>C | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16612716 RCV000467441 rs1060502233 |
2159 | R>H | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1055326153 CA201633926 RCV000550878 |
2168 | C>Y | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200254239 RCV000769586 RCV000526597 CA5339884 |
2170 | S>N | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16612664 rs1060502234 RCV000461898 |
2173 | A>T | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000247419 RCV000766054 RCV000692256 rs761602495 RCV000493215 CA5339880 |
2174 | K>R | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000655246 rs587778571 RCV000121700 CA161227 |
2179 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000472324 CA16612810 rs1060502236 |
2193 | S>G | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5339868 rs376422513 RCV000438766 RCV001861639 |
2195 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000227496 rs761562076 CA5339864 RCV000619172 |
2198 | S>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000467175 RCV000243310 CA5339843 rs202096917 |
2229 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000622050 CA5339835 RCV001567286 rs61751491 RCV001868117 |
2243 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000121701 rs201613894 RCV000660177 RCV000539993 CA161229 |
2245 | G>R | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1842927243 RCV001170919 |
2246 | H>Q | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457692 rs369457922 CA5339831 |
2249 | V>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375630365 rs1204397173 RCV000680581 |
2253 | P>L | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1163673587 RCV000697430 CA375630361 |
2254 | E>K | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs780071276 RCV000655248 CA5339817 |
2262 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA161233 RCV000662263 RCV000121703 rs200521815 |
2263 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000680580 CA5339813 RCV000440204 rs752505638 |
2272 | R>C | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000522367 RCV000655274 CA5339810 rs200370953 |
2279 | A>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA161235 rs61751489 RCV000121704 RCV000463376 RCV000618803 |
2285 | V>I | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1020747496 RCV000552480 RCV000521367 CA201633224 |
2299 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000655236 rs587778573 CA161237 RCV000121705 |
2300 | G>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371069660 RCV000617779 CA5339787 RCV000474849 |
2313 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5339781 rs747022065 RCV000462592 |
2317 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000621351 CA161239 RCV000475178 RCV000121706 rs202065858 |
2327 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5339772 rs751007903 RCV000420862 RCV000701504 |
2327 | R>W | Adams-Oliver syndrome 5 Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs111309246 RCV000244050 RCV000230734 CA161241 RCV000769580 RCV000121707 |
2331 | A>T | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5339750 RCV000620680 RCV000529611 rs373119531 |
2372 | R>Q | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691648 rs761839390 CA5339746 |
2377 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375627948 rs1564567924 RCV000689599 |
2382 | T>I | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1842918547 RCV001253016 |
2384 | Q>R | Aortic valve disease 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001291518 rs1842918022 |
2393 | Q>R | Hypoplastic left heart syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564567879 CA375627734 RCV000703458 |
2398 | Q>R | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375627666 RCV000769577 rs61751486 |
2403 | Q>H | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5339730 rs767728582 RCV000769576 RCV000617166 RCV000546637 |
2408 | L>P | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000660178 rs560981171 CA5339728 |
2410 | P>L | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs762336270 RCV001861714 RCV000660179 |
2415 | P>missing | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680579 rs762336270 RCV002066997 |
2415 | P>missing | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5339712 RCV000233982 rs370652630 |
2417 | P>L | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5339707 rs370722609 RCV000228959 |
2427 | G>S | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000244186 RCV000423634 RCV000471243 rs36049318 CA5339706 |
2430 | G>A | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001854978 CA5339705 RCV000253698 rs758410389 |
2431 | R>W | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001859456 rs886039031 CA10587665 RCV000244758 |
2437 | E>D | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199777870 CA5339700 RCV001584443 RCV000620458 RCV001855283 RCV000768032 |
2438 | P>L | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000250238 CA5339690 rs536167222 RCV000766053 |
2455 | T>A | Aortic valve disease 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777934565 RCV000687491 CA5339689 |
2456 | I>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5339688 RCV000554225 rs61755043 RCV000617587 RCV000429580 RCV000660180 |
2457 | L>V | Connective tissue disorder Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000229341 RCV000493754 CA5339679 rs369167555 |
2466 | T>M | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001462061 rs375025242 CA161221 RCV000143942 RCV000121697 RCV001545848 |
2467 | S>L | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5339663 rs763902589 RCV000576306 RCV001859994 |
2500 | H>D | Aortic valve disease 1 Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000542998 rs1554826340 CA375626005 |
2510 | L>P | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763016003 RCV000705932 |
2514 | P>missing | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375625982 RCV000769573 rs1564567473 |
2514 | P>L | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1365732147 CA375625972 RCV000619232 RCV001764632 RCV000535696 |
2515 | E>D | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA201632274 rs1052013977 RCV000543627 |
2529 | V>I | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000620661 RCV000560852 RCV000770361 rs111627256 RCV000606453 CA5339646 |
2536 | V>I | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000770360 RCV001855726 rs761156723 CA5339638 |
2548 | A>T | Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000121695 RCV000536903 rs188270459 CA161217 |
2550 | I>V | Adams-Oliver syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1229360786 CA375579913 |
3 | P>L | No |
ClinGen TOPMed |
|
|
CA375579914 rs1229360786 |
3 | P>R | No |
ClinGen TOPMed |
|
|
rs1260556792 CA375579906 |
4 | L>P | No |
ClinGen TOPMed |
|
|
rs758139292 CA5342275 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs878855023 CA10582650 |
6 | A>V | No |
ClinGen Ensembl |
|
|
RCV000618445 rs1397523469 CA375579885 |
7 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1397523469 CA375579887 |
7 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375579847 rs1254279627 |
11 | L>V | No |
ClinGen TOPMed |
|
|
rs1473062369 CA375579834 |
12 | A>V | No |
ClinGen TOPMed |
|
|
CA5342272 rs754613772 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375579362 rs1554733407 RCV000523036 |
21 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5342263 rs769046407 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA375579313 rs869025260 |
23 | R>P | No |
ClinGen gnomAD |
|
|
CA375579267 rs1217905346 |
26 | Q>* | No |
ClinGen gnomAD |
|
|
rs1388609508 CA375579239 |
28 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs908111363 CA201607592 |
29 | E>K | No |
ClinGen gnomAD |
|
|
rs1293196350 CA375579153 |
31 | C>Y | No |
ClinGen gnomAD |
|
|
CA375579146 rs367858719 |
32 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375579083 rs1402866125 |
34 | G>S | No |
ClinGen gnomAD |
|
|
rs1197823538 CA375579075 |
34 | G>V | No |
ClinGen TOPMed |
|
|
CA375579036 rs1589084110 |
36 | K>E | No |
ClinGen Ensembl |
|
|
CA375579010 rs1172832489 |
37 | C>R | No |
ClinGen gnomAD |
|
|
CA5342256 rs747994799 |
39 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433296087 CA375578876 |
40 | A>G | No |
ClinGen gnomAD |
|
|
rs778658796 CA5342255 |
41 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA375578789 rs754666783 |
42 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5342254 rs754666783 |
42 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000519931 CA5342252 rs371103280 |
43 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5342253 rs753523233 |
43 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA375578685 rs1331779957 |
47 | V>I | No |
ClinGen gnomAD |
|
|
CA375573229 rs1327257445 |
48 | C>Y | No |
ClinGen Ensembl |
|
|
rs776758626 CA375573218 |
50 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776758626 CA5342241 |
50 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771954465 CA5342240 |
51 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188063786 CA375573213 |
51 | A>T | No |
ClinGen gnomAD |
|
|
rs1286892980 CA375573184 |
55 | P>L | No |
ClinGen gnomAD |
|
|
CA375573180 rs1286309175 |
56 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA375573169 rs1340326048 |
58 | Q>E | No |
ClinGen gnomAD |
|
|
rs1353567476 CA375573164 |
58 | Q>H | No |
ClinGen TOPMed |
|
|
rs755775484 CA375573153 |
60 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755775484 CA5342234 |
60 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554730749 CA375573144 |
61 | N>S | No |
ClinGen Ensembl |
|
|
rs749947050 CA5342233 |
62 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5342230 rs752133245 |
66 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342227 rs753106233 RCV000617743 |
71 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs370546002 CA201590552 |
72 | G>A | No |
ClinGen ESP TOPMed |
|
|
CA201590554 rs892114222 |
72 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs532574807 CA5342223 |
76 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375572981 rs760700593 |
77 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342222 rs760700593 |
77 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589072675 CA375572971 |
78 | D>G | No |
ClinGen Ensembl |
|
|
CA375572976 rs1564203920 |
78 | D>N | No |
ClinGen Ensembl |
|
|
RCV000520005 rs761439288 CA201590527 |
79 | R>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5342219 rs749152413 |
81 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342217 rs377532588 |
83 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276951748 CA375572913 |
85 | Y>H | No |
ClinGen gnomAD |
|
|
rs373941045 CA5342216 |
86 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191357265 CA5342215 |
88 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191357265 CA5342214 RCV000620157 RCV000436384 |
88 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA375572852 rs1201407249 |
90 | A>V | No |
ClinGen TOPMed |
|
|
rs1404441316 CA375572834 |
93 | F>V | No |
ClinGen gnomAD |
|
|
rs758960864 CA5342211 |
96 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201590488 rs1050259961 |
96 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375572801 rs1399662154 |
97 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5342210 rs753051783 |
100 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs746491686 CA201590483 |
101 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1468241000 CA375572761 |
102 | L>M | No |
ClinGen gnomAD |
|
|
rs1589072609 CA375572741 |
104 | N>H | No |
ClinGen Ensembl |
|
|
rs4489420 CA375572732 |
104 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1212259128 CA375572724 |
105 | A>G | No |
ClinGen gnomAD |
|
|
rs1272955097 CA375572729 |
105 | A>T | No |
ClinGen gnomAD |
|
|
rs1274978757 CA375572691 |
108 | T>I | No |
ClinGen gnomAD |
|
|
CA375572690 rs1439692221 |
109 | N>D | No |
ClinGen gnomAD |
|
|
CA5342207 rs766456210 |
109 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA375572669 rs1333041588 |
110 | P>L | No |
ClinGen gnomAD |
|
|
RCV000486049 CA16618806 rs1064796976 |
110 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5342205 rs773278675 |
111 | C>F | No |
ClinGen ExAC |
|
|
CA375572651 rs768625801 |
112 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA375572644 rs1416140685 |
113 | N>S | No |
ClinGen gnomAD |
|
|
CA375572624 rs1589072557 |
115 | G>D | No |
ClinGen Ensembl |
|
|
CA375572613 rs1308100068 |
116 | T>I | No |
ClinGen TOPMed |
|
|
rs745590123 CA5342200 |
118 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375572597 rs745590123 |
118 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA161213 rs587778570 RCV000121693 |
121 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs529738206 CA5342198 |
121 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs984769025 CA201590465 |
122 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5342195 rs779240492 |
125 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1589072528 CA375572518 |
126 | K>E | No |
ClinGen Ensembl |
|
|
CA5342194 rs371868900 |
128 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754086897 CA375572467 |
128 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342191 rs756319442 |
130 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440604489 CA375572422 |
131 | P>A | No |
ClinGen gnomAD |
|
|
rs761748180 CA5342188 |
132 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342159 rs749786734 |
137 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1319837046 CA375571769 |
140 | Q>P | No |
ClinGen gnomAD |
|
|
CA375571695 rs1589072141 |
142 | D>A | No |
ClinGen Ensembl |
|
|
rs1228192276 CA375571680 |
143 | P>L | No |
ClinGen gnomAD |
|
|
CA375571606 rs1388726872 |
145 | A>P | No |
ClinGen gnomAD |
|
|
CA375571616 rs1388726872 |
145 | A>S | No |
ClinGen gnomAD |
|
|
CA375571609 rs1388726872 |
145 | A>T | No |
ClinGen gnomAD |
|
|
CA375571586 rs1372084604 |
146 | S>Y | No |
ClinGen gnomAD |
|
|
CA5342152 rs777683524 |
147 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs777683524 CA375571570 |
147 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs372660483 CA5342151 |
150 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5342150 rs542928414 |
151 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5342149 rs766362765 |
151 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342146 rs767262358 |
154 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs774011231 CA375571182 |
158 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375571180 rs1238603957 |
159 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1238603957 CA375571179 |
159 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5342143 rs376244873 |
160 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5342141 rs775978653 |
165 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA375570871 rs1439038323 |
167 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1330042951 CA375570825 |
168 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1330042951 CA375570817 |
168 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1394975333 CA375570808 |
169 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs984149150 CA201590025 |
169 | S>N | No |
ClinGen TOPMed |
|
|
rs1271986548 CA375570725 |
171 | H>R | No |
ClinGen Ensembl |
|
|
CA5342136 rs747226831 |
174 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771225163 CA5342137 |
174 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5342135 rs575513935 |
176 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA201590009 rs917350353 |
179 | V>I | No |
ClinGen Ensembl |
|
|
rs780209394 CA5342132 |
181 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375570372 rs1589072024 |
184 | Q>* | No |
ClinGen Ensembl |
|
|
rs570962068 CA375570301 |
185 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA375570333 rs1279772014 |
185 | K>Q | No |
ClinGen gnomAD |
|
|
CA375570289 rs1228535872 |
186 | P>A | No |
ClinGen Ensembl |
|
|
rs761616770 CA5342129 |
190 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342128 rs761616770 |
190 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336753947 CA375570118 |
191 | H>P | No |
ClinGen gnomAD |
|
|
CA5342126 rs763733336 |
191 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008581577 CA201589961 |
192 | G>R | No |
ClinGen TOPMed |
|
|
rs774966208 CA5342124 |
193 | G>A | Tetralogy of fallot (tof) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA201589951 rs770333242 |
194 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760005580 CA5342121 |
194 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA375570035 rs777155621 |
196 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157720260 CA375570026 |
196 | H>R | No |
ClinGen gnomAD |
|
|
rs777155621 CA5342119 |
196 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA375569979 rs1370073589 |
198 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
RCV000121708 rs182763411 CA161243 |
203 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs182763411 CA5342116 |
203 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA201589932 rs867209548 |
203 | R>S | No |
ClinGen Ensembl |
|
|
CA375569877 rs1256895718 |
204 | C>R | No |
ClinGen gnomAD |
|
|
rs979299004 CA375569851 |
205 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs979299004 CA201589924 |
205 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375569812 rs779118023 |
207 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342114 rs779118023 |
207 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748300035 CA5342115 |
207 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA375569763 rs1401319182 |
211 | T>S | No |
ClinGen gnomAD |
|
|
rs867788485 CA201589911 |
212 | G>C | No |
ClinGen Ensembl |
|
|
CA375569745 rs1468714810 |
213 | P>A | No |
ClinGen TOPMed |
|
|
CA375569689 rs1317233337 |
216 | E>Q | No |
ClinGen gnomAD |
|
|
CA375569661 RCV000520676 rs1392605424 |
217 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs751363480 CA5342109 |
219 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs754236791 CA375569613 |
220 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754236791 CA5342107 |
220 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35083144 CA201589889 |
223 | S>I | No |
ClinGen Ensembl |
|
|
rs758998121 CA5342104 |
224 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs553542677 CA201589880 |
225 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553542677 CA5342102 |
225 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375569345 rs1269141919 |
230 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1027492078 CA201589870 |
230 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1247729687 CA375569325 |
231 | G>S | No |
ClinGen gnomAD |
|
|
rs869025493 CA375569295 |
232 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs567890045 CA201589842 |
234 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567890045 CA5342100 |
234 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375569215 rs1172695418 |
235 | P>R | No |
ClinGen gnomAD |
|
|
CA375569232 rs1225363658 |
235 | P>S | No |
ClinGen TOPMed |
|
|
rs768866503 CA5342097 |
237 | G>S | No |
ClinGen ExAC |
|
|
CA5342096 rs550554578 |
238 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5342094 rs746827857 |
239 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342093 rs777523286 |
240 | T>S | No |
ClinGen ExAC |
|
|
rs1251562545 CA375569101 |
241 | H>Y | No |
ClinGen gnomAD |
|
|
CA5342090 rs564629053 |
242 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1271603410 CA375569038 |
242 | E>V | No |
ClinGen gnomAD |
|
|
CA5342051 rs551150550 |
250 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755667439 CA375566870 |
251 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749943647 CA5342047 |
251 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388345683 CA375566858 |
252 | Q>R | No |
ClinGen TOPMed |
|
|
CA375566849 rs1280086945 |
253 | N>Y | No |
ClinGen gnomAD |
|
|
rs1186718194 CA375566798 |
255 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1318946659 CA375566747 |
257 | N>D | No |
ClinGen TOPMed |
|
|
CA375566743 rs1485372589 |
257 | N>T | No |
ClinGen gnomAD |
|
|
rs1217015143 CA375566729 |
258 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs969073541 CA201587850 |
260 | D>N | No |
ClinGen gnomAD |
|
|
CA5342040 rs765318327 |
262 | P>S | No |
ClinGen ExAC |
|
|
rs768903474 CA5342039 |
263 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs767480387 CA5342037 |
265 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5342036 rs761714431 |
267 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5342034 rs768524076 |
269 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5342033 rs748965969 |
271 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA161247 RCV000121710 rs369721921 |
276 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756781617 CA5342029 |
278 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1564200790 CA375566278 |
280 | N>K | No |
ClinGen Ensembl |
|
|
rs367825691 CA5342027 |
280 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468729123 CA375566257 |
282 | R>C | No |
ClinGen gnomAD |
|
|
rs758804728 CA5342026 |
282 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422057672 CA375565978 |
294 | E>D | No |
ClinGen gnomAD |
|
|
CA5341985 rs780325547 |
294 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370261688 CA375565921 |
297 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375565879 rs1414889345 |
299 | C>S | No |
ClinGen gnomAD |
|
|
VAR_034898 CA201587690 rs11574885 |
300 | Q>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1354385699 CA375565846 |
301 | L>P | No |
ClinGen gnomAD |
|
|
rs1564200379 CA375565851 |
301 | L>V | No |
ClinGen Ensembl |
|
|
rs781156651 CA5341982 |
303 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341983 rs750568399 |
303 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752583424 CA5341980 |
307 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA375565717 rs1455510244 |
308 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1475560090 CA375565654 |
310 | G>A | No |
ClinGen gnomAD |
|
|
rs373281759 CA201587688 |
313 | H>R | No |
ClinGen ESP |
|
|
CA5341973 rs771510776 |
314 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1208513709 CA375565576 |
314 | N>S | No |
ClinGen gnomAD |
|
|
CA5341972 rs761318281 |
315 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5341969 rs749696049 |
317 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281980307 CA375565555 |
318 | G>S | No |
ClinGen gnomAD |
|
|
RCV000619275 CA375565545 rs1554730095 |
319 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs780378809 CA5341968 |
320 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA375565525 rs1317299348 |
322 | V>L | No |
ClinGen gnomAD |
|
|
rs1564200310 CA375565498 |
326 | G>S | No |
ClinGen Ensembl |
|
|
rs1396466231 CA375565482 |
328 | T>A | No |
ClinGen gnomAD |
|
|
CA5341965 rs757299499 |
328 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757299499 CA5341964 |
328 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA375565462 rs1589068946 |
331 | D>A | No |
ClinGen Ensembl |
|
|
CA201587684 rs895972070 |
333 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375565449 rs895972070 |
333 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA201587683 rs754934469 |
334 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5341962 rs779061035 |
334 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375565430 rs1373881914 |
335 | N>K | No |
ClinGen gnomAD |
|
|
CA201587682 rs866609222 |
336 | I>M | No |
ClinGen Ensembl |
|
|
CA5341960 rs753734433 |
336 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341956 rs767135808 |
345 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA201587681 rs773824500 |
346 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341954 rs773824500 |
346 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341953 rs376951155 |
346 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761284220 CA5341955 |
346 | H>Y | No |
ClinGen ExAC |
|
|
CA375565353 rs776775865 |
347 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5341950 rs746187371 |
347 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341951 rs746187371 |
347 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746187371 CA5341949 |
347 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341948 rs776775865 |
347 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5341946 rs201236538 |
348 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs201236538 CA5341945 |
348 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs921581843 CA201587677 |
349 | T>I | No |
ClinGen Ensembl |
|
|
CA375565319 rs1300110216 |
353 | R>C | No |
ClinGen Ensembl |
|
|
rs750215904 CA5341940 |
353 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194658883 CA375565281 |
359 | C>R | No |
ClinGen gnomAD |
|
|
rs1292222613 CA375565269 |
360 | E>D | No |
ClinGen gnomAD |
|
|
CA5341936 rs567942055 |
360 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5341935 rs762385636 |
363 | H>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000480413 rs1064795070 CA16618805 |
365 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5341934 rs775991013 |
365 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554730065 CA375565236 RCV000621986 |
366 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs913089533 CA201587620 |
373 | N>S | No |
ClinGen TOPMed |
|
|
CA5341905 rs770729642 |
374 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239938980 CA375564955 |
378 | S>G | No |
ClinGen TOPMed |
|
|
CA5341902 rs758017301 |
379 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341901 rs752255207 |
379 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754403730 CA5341899 |
383 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5341898 rs754374362 |
386 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375564745 RCV000514368 rs1290954710 |
388 | D>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs762151552 CA5341893 |
391 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs866744594 CA201587616 |
392 | V>F | No |
ClinGen Ensembl |
|
|
CA375564667 rs1368532867 |
394 | G>V | No |
ClinGen gnomAD |
|
|
CA5341891 rs373966349 |
396 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA201587613 rs762886963 |
399 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770851983 CA5341888 |
399 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs762886963 CA5341890 |
399 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5341889 rs770851983 |
399 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1229031905 CA375564554 |
403 | G>V | No |
ClinGen Ensembl |
|
|
CA5341886 rs772970034 |
404 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1244187539 CA375564535 |
405 | T>A | No |
ClinGen gnomAD |
|
|
rs370746889 CA5341885 |
405 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1271838608 CA375564522 |
406 | G>C | No |
ClinGen Ensembl |
|
|
rs1392094557 CA375564418 |
412 | D>N | No |
ClinGen gnomAD |
|
|
rs756024222 CA201587608 |
414 | D>N | No |
ClinGen Ensembl |
|
|
CA201587607 rs757631575 |
417 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375563662 rs1190806275 |
419 | G>A | No |
ClinGen TOPMed |
|
|
CA375563557 rs1341448592 |
424 | E>K | No |
ClinGen Ensembl |
|
|
CA5341840 rs528033027 |
426 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA375563440 rs1269288372 |
430 | I>L | No |
ClinGen gnomAD |
|
|
CA375563394 rs188014209 |
433 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375563320 rs1060502238 |
437 | E>* | No |
ClinGen gnomAD |
|
|
CA201587574 rs542249303 |
441 | L>R | No |
ClinGen Ensembl |
|
|
rs1383733863 CA375563213 |
442 | Q>R | No |
ClinGen gnomAD |
|
|
rs1589068195 CA375563184 |
444 | Y>S | No |
ClinGen Ensembl |
|
|
rs752919688 CA5341834 |
445 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223043989 CA375563155 |
446 | G>D | No |
ClinGen Ensembl |
|
|
CA375563133 rs1489772494 |
449 | C>Y | No |
ClinGen Ensembl |
|
|
CA375563110 rs1165088974 |
451 | I>F | No |
ClinGen gnomAD |
|
|
rs559403480 CA201587569 |
452 | D>N | No |
ClinGen Ensembl |
|
|
CA5341829 rs761629787 |
453 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375563080 rs1248809872 |
454 | N>S | No |
ClinGen TOPMed |
|
|
rs573153379 CA5341826 |
457 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5341825 rs573153379 |
457 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769569937 CA5341824 |
458 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs574143345 CA5341823 |
459 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776258761 CA5341822 |
460 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA375563023 rs1266989706 |
460 | P>S | No |
ClinGen Ensembl |
|
|
CA5341820 rs747502723 |
462 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs772334720 CA5341818 |
464 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1352568382 CA375562950 |
466 | T>I | No |
ClinGen Ensembl |
|
|
CA375562954 rs1589068073 |
466 | T>P | No |
ClinGen Ensembl |
|
|
CA375562944 rs1429314606 |
467 | C>Y | No |
ClinGen Ensembl |
|
|
CA375562920 rs1564199455 |
470 | Q>E | No |
ClinGen Ensembl |
|
|
rs753964476 CA5341814 |
471 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201587556 rs1038001297 |
479 | M>I | No |
ClinGen gnomAD |
|
|
CA375562778 rs1448146225 |
481 | G>S | No |
ClinGen gnomAD |
|
|
CA201587472 rs778938293 |
483 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341773 rs748102038 |
483 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778938293 CA5341772 |
483 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440584630 CA375562613 |
485 | V>L | No |
ClinGen gnomAD |
|
|
CA375562619 rs1440584630 |
485 | V>M | No |
ClinGen gnomAD |
|
|
CA5341770 rs753661188 |
488 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375562516 rs1401486199 |
490 | N>K | No |
ClinGen TOPMed |
|
|
rs562257002 CA5341769 |
490 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755769408 CA5341768 |
491 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5341766 rs767042476 |
495 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375562410 rs1404426526 |
496 | S>G | No |
ClinGen gnomAD |
|
|
rs1363375217 CA375562323 |
501 | H>Y | No |
ClinGen gnomAD |
|
|
CA375562299 rs1458291592 |
502 | N>S | No |
ClinGen gnomAD |
|
|
rs752071569 CA375562278 |
504 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775905537 CA5341761 |
507 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs770005789 CA5341760 |
509 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA201587460 rs551200410 |
510 | N>D | No |
ClinGen Ensembl |
|
|
CA5341759 rs759834538 |
511 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771150144 CA5341757 |
512 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375562103 rs747069934 |
513 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs749085650 CA5341754 |
515 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749085650 RCV000414177 CA5341753 |
515 | E>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375562017 rs377535397 |
518 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770672556 CA5341713 |
520 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1388397774 CA375561777 |
522 | G>E | No |
ClinGen Ensembl |
|
|
CA5341711 rs777236348 |
523 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs572103199 CA5341712 |
523 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375560940 rs1351839879 |
528 | D>G | No |
ClinGen gnomAD |
|
|
rs562807473 CA5341709 |
530 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA201587148 rs937879671 |
531 | E>K | No |
ClinGen gnomAD |
|
|
CA375560858 rs1372924410 |
536 | P>L | No |
ClinGen Ensembl |
|
|
CA5341704 rs756479454 |
538 | K>R | No |
ClinGen ExAC |
|
|
rs750685842 CA5341703 |
539 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767618789 CA5341702 |
540 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006356840 CA201587147 |
540 | G>R | No |
ClinGen TOPMed |
|
|
CA5341701 rs369635394 |
542 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5341700 rs764185451 |
546 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA375560743 rs1212053025 |
547 | P>L | No |
ClinGen gnomAD |
|
|
rs1202569064 CA375560740 |
548 | N>D | No |
ClinGen gnomAD |
|
|
CA375560733 rs1483841524 |
548 | N>I | No |
ClinGen gnomAD |
|
|
CA375560701 rs1218640363 |
551 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA375560667 rs1334264743 |
555 | T>A | No |
ClinGen TOPMed |
|
|
CA375560663 rs746796894 |
555 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000658427 CA5341696 rs746796894 |
555 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA201587105 rs376055493 |
559 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1487903012 CA375560590 |
560 | G>R | No |
ClinGen TOPMed |
|
|
rs1186485784 CA375560570 |
562 | H>R | No |
ClinGen TOPMed |
|
|
rs1247891729 CA375560551 |
563 | C>Y | No |
ClinGen gnomAD |
|
|
CA375560532 rs1490073567 |
564 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10587671 rs773932034 RCV000246073 |
567 | I>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1017787746 CA375560364 |
571 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5341653 rs373125283 |
571 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769389809 CA5341652 |
572 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs868858199 CA201587099 |
572 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1002136018 CA201587095 |
573 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5341650 rs781682670 |
573 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771263341 CA5341649 |
574 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201587093 rs866860471 |
576 | H>R | No |
ClinGen Ensembl |
|
|
rs1409484433 CA375560277 |
576 | H>Y | No |
ClinGen gnomAD |
|
|
CA375560252 rs865987089 |
577 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA201587091 rs865987089 |
577 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA201587090 rs1046268914 |
578 | G>S | No |
ClinGen gnomAD |
|
|
rs1458789810 CA375560197 |
579 | S>F | No |
ClinGen TOPMed |
|
|
CA5341643 rs755014838 |
581 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5341641 rs767476967 |
582 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443966068 CA375560167 |
582 | D>N | No |
ClinGen gnomAD |
|
|
CA375560142 rs1322907050 |
583 | G>D | No |
ClinGen gnomAD |
|
|
rs763886355 CA5341638 |
584 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587778557 CA201587088 |
585 | A>D | No |
ClinGen Ensembl |
|
|
CA5341636 rs775217381 |
585 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000121658 CA161143 rs587778557 |
585 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771440130 CA5341633 |
587 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867530106 CA201587087 |
590 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA375559944 rs1472690723 |
592 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs544117297 CA5341630 |
592 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375559863 rs1261287469 |
598 | H>Q | No |
ClinGen gnomAD |
|
|
rs1589066307 CA375559867 |
598 | H>Y | No |
ClinGen Ensembl |
|
|
CA375559851 rs1470946559 |
599 | H>Q | No |
ClinGen gnomAD |
|
|
CA5341625 rs749381544 |
601 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257021470 CA375559810 |
603 | N>D | No |
ClinGen TOPMed |
|
|
CA375559783 rs1480542002 |
605 | N>I | No |
ClinGen TOPMed |
|
|
rs576787491 CA5341623 |
606 | E>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs558914849 CA201587076 |
608 | S>C | No |
ClinGen 1000Genomes |
|
|
CA5341620 rs369522885 |
613 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375349485 CA375559676 |
614 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375559684 rs1453824070 |
614 | H>Y | No |
ClinGen gnomAD |
|
|
rs764942073 CA201587073 |
615 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs759013144 CA5341617 |
616 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA375559652 rs1442661141 |
617 | T>I | No |
ClinGen gnomAD |
|
|
rs765761043 CA5341615 |
617 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748495449 CA375559619 |
620 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5341610 rs774622686 |
621 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375559618 rs774622686 |
621 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375559616 rs138504021 |
621 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774622686 CA201587067 |
621 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375559608 rs1242079317 |
623 | N>H | No |
ClinGen gnomAD |
|
|
rs769696527 CA5341607 |
623 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5341605 RCV000493470 rs372771179 |
624 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368173353 CA201587059 |
628 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs752513330 CA5341603 |
630 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286621388 CA375559528 |
631 | K>T | No |
ClinGen gnomAD |
|
|
CA5341602 rs778481564 |
633 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA375559443 rs1485274124 |
635 | G>E | No |
ClinGen gnomAD |
|
|
rs1485274124 CA375559442 |
635 | G>V | No |
ClinGen gnomAD |
|
|
rs1250107269 CA375559433 |
636 | P>H | No |
ClinGen gnomAD |
|
|
rs1282097829 CA375559416 |
637 | N>K | No |
ClinGen gnomAD |
|
|
CA5341565 rs768550445 |
637 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779794980 CA5341563 |
639 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375559364 rs1315257776 |
642 | L>R | No |
ClinGen TOPMed |
|
|
rs755740633 CA5341562 |
642 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375559338 rs1304507768 |
644 | D>V | No |
ClinGen gnomAD |
|
|
CA375559317 rs1238304834 |
646 | A>T | No |
ClinGen TOPMed |
|
|
CA201587022 rs1033202692 |
648 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375559280 rs780710009 |
649 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780710009 CA201587020 |
649 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341560 rs780710009 |
649 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182867386 CA375559260 |
651 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1182867386 CA375559256 |
651 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs764504524 CA201587017 |
652 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs758837712 CA5341556 |
652 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA5341557 rs764504524 |
652 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5341554 rs765651994 |
654 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA375559213 rs1330664365 |
655 | C>Y | No |
ClinGen gnomAD |
|
|
CA375559167 rs368996332 |
660 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368996332 CA5341550 |
660 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368996332 CA375559165 |
660 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768443027 CA5341548 |
662 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5341546 rs548000491 |
663 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1468283318 CA375559128 |
663 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1159365296 CA375559106 |
665 | A>T | No |
ClinGen gnomAD |
|
|
rs780810308 CA5341543 |
668 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341542 rs576030298 |
668 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780810308 CA375559071 |
668 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778394191 CA239914 RCV000174381 |
669 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5341540 rs778394191 |
669 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA375558949 rs1294636595 |
673 | S>R | No |
ClinGen TOPMed |
|
|
RCV000486605 rs1064795976 |
675 | C>missing | No |
ClinVar dbSNP |
|
|
CA5341504 rs747652440 |
675 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA375558921 rs1224303901 |
676 | N>Y | No |
ClinGen gnomAD |
|
|
CA5341503 rs370515392 |
678 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273334867 CA375558888 |
679 | I>V | No |
ClinGen gnomAD |
|
|
rs749761941 CA5341501 |
680 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375558851 rs1407585956 |
683 | A>V | No |
ClinGen gnomAD |
|
|
CA375558846 rs1269922164 |
684 | G>C | No |
ClinGen gnomAD |
|
|
CA375558843 rs1468929774 |
684 | G>V | No |
ClinGen gnomAD |
|
|
CA375558833 rs1178627457 |
686 | P>S | No |
ClinGen gnomAD |
|
|
RCV000788401 rs764112977 CA5341494 RCV000246383 |
690 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1385815860 CA375558793 |
692 | T>A | No |
ClinGen TOPMed |
|
|
rs754941989 CA5341493 |
692 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs565168282 CA5341491 |
694 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767162403 CA375558775 |
695 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767162403 RCV000439431 CA5341489 |
695 | D>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1385662021 CA375558764 |
696 | G>D | No |
ClinGen gnomAD |
|
|
rs373556820 CA5341487 |
696 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768239681 CA5341486 |
698 | N>K | No |
ClinGen ExAC |
|
|
rs1338004985 CA375558752 |
698 | N>S | No |
ClinGen gnomAD |
|
|
CA375558745 rs1287974363 |
699 | G>A | No |
ClinGen TOPMed |
|
|
CA5341485 rs749815094 |
700 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA5341483 rs201855457 |
701 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5341482 RCV000620284 rs746213819 |
703 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs747193115 CA5341480 |
705 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5341478 rs368494947 |
706 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368494947 CA201586914 |
706 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5341474 rs750207883 |
710 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA201586912 rs950236535 |
710 | D>N | No |
ClinGen TOPMed |
|
|
rs200692749 CA5341473 |
712 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA201586909 rs61755998 |
712 | T>I | No |
ClinGen gnomAD |
|
|
rs200692749 CA5341472 |
712 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1056243650 CA201586907 |
716 | E>K | No |
ClinGen Ensembl |
|
|
rs1589065468 CA375558634 |
717 | V>G | No |
ClinGen Ensembl |
|
|
rs762537859 CA5341469 |
717 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1290138629 CA375558605 |
721 | N>S | No |
ClinGen gnomAD |
|
|
CA5341466 rs746313097 |
726 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375558562 rs1385702271 |
727 | H>R | No |
ClinGen gnomAD |
|
|
rs771222092 CA5341464 |
728 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA375558551 rs1400821402 |
729 | A>S | No |
ClinGen TOPMed |
|
|
CA161153 rs587778558 RCV000121663 |
731 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs748224993 CA5341461 |
733 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1292975359 CA375558519 |
734 | L>F | No |
ClinGen gnomAD |
|
|
rs2229970 CA5341460 |
735 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375558511 rs1245818829 |
735 | N>S | No |
ClinGen gnomAD |
|
|
rs1174619780 CA375557403 |
738 | K>M | No |
ClinGen TOPMed |
|
|
CA375557396 rs1255561629 |
739 | C>R | No |
ClinGen gnomAD |
|
|
rs200816814 CA375557375 |
740 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758958415 CA5341432 |
741 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA375557332 rs201889382 |
742 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375557324 rs1192823861 |
743 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA201585424 rs947184745 |
743 | P>H | No |
ClinGen TOPMed |
|
|
CA375557288 rs1307465497 |
746 | S>R | No |
ClinGen gnomAD |
|
|
rs587778560 RCV000121665 CA161157 |
749 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs913161222 CA201585406 |
752 | I>N | No |
ClinGen TOPMed |
|
|
rs766844594 CA5341430 |
753 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5341429 rs761072761 |
754 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA375557198 rs1275066412 |
754 | N>Y | No |
ClinGen TOPMed |
|
|
CA201585396 rs376424722 |
755 | N>D | No |
ClinGen Ensembl |
|
|
rs1490693169 CA375557161 |
757 | C>G | No |
ClinGen TOPMed |
|
|
CA201585392 rs371287009 |
760 | N>K | No |
ClinGen ESP |
|
|
rs993388875 CA201585385 |
765 | G>S | No |
ClinGen Ensembl |
|
|
rs374434131 CA375557061 |
766 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5341424 rs768836936 |
766 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs768836936 CA5341425 |
766 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1439517621 CA375557049 |
767 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA375557057 rs1589064682 |
767 | T>P | No |
ClinGen Ensembl |
|
|
rs1439517621 CA375557050 |
767 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375557047 rs1589064674 |
768 | C>R | No |
ClinGen Ensembl |
|
|
CA5341420 rs746904183 |
771 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs371117125 CA5341421 |
771 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758073507 CA5341418 |
773 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375556961 rs1198316092 |
774 | G>A | No |
ClinGen gnomAD |
|
|
rs1198316092 CA375556966 |
774 | G>D | No |
ClinGen gnomAD |
|
|
rs1486659741 CA375556947 |
775 | Y>C | No |
ClinGen gnomAD |
|
|
CA5341415 rs377286829 |
776 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765822790 CA5341413 |
778 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375556922 rs1589064630 |
778 | T>P | No |
ClinGen Ensembl |
|
|
CA375556906 rs1383539192 |
779 | C>S | No |
ClinGen gnomAD |
|
|
rs750859847 CA375556895 |
780 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750859847 CA5341411 |
780 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341412 rs756642176 RCV000618356 |
780 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375556891 rs1289723896 |
781 | E>K | No |
ClinGen gnomAD |
|
|
rs1419467882 CA375556877 |
782 | G>A | No |
ClinGen gnomAD |
|
|
CA5341407 rs764191723 |
785 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199672693 CA5341373 |
787 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375556809 rs1396528813 |
787 | N>K | No |
ClinGen gnomAD |
|
|
CA375556815 rs1333231069 |
787 | N>S | No |
ClinGen TOPMed |
|
|
RCV000788360 rs752038308 CA375556796 |
788 | C>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5341372 rs752038308 |
788 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA201585143 rs942962342 |
790 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1351869593 CA375556756 |
792 | I>L | No |
ClinGen gnomAD |
|
|
CA375556722 rs1255941144 |
793 | N>S | No |
ClinGen TOPMed |
|
|
rs587778561 RCV000121666 |
793 | N>missing | No |
ClinVar dbSNP |
|
|
CA375556701 rs1554729113 |
794 | E>K | No |
ClinGen Ensembl |
|
|
rs753036935 CA5341369 |
796 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753889842 CA5341366 |
798 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375556533 rs1589064343 |
803 | Q>R | No |
ClinGen Ensembl |
|
|
CA5341365 rs766438580 |
804 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA375556512 rs374937899 |
805 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374937899 CA5341364 |
805 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265223880 CA375556487 |
807 | I>T | No |
ClinGen gnomAD |
|
|
CA375556458 rs775162462 |
809 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201585064 rs948647691 |
810 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA375556430 rs1387720053 |
813 | Y>S | No |
ClinGen TOPMed |
|
|
CA375556422 rs747529236 |
814 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747529236 RCV000252214 CA5341356 |
814 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375556418 rs1176627299 |
815 | C>R | No |
ClinGen gnomAD |
|
|
CA375556419 RCV000522843 rs1176627299 |
815 | C>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA375556404 rs1422745093 |
816 | N>K | No |
ClinGen gnomAD |
|
|
rs1413572803 CA375556408 |
816 | N>S | No |
ClinGen gnomAD |
|
|
rs1413572803 CA375556407 |
816 | N>T | No |
ClinGen gnomAD |
|
|
CA375556393 rs1298965823 |
818 | L>P | No |
ClinGen TOPMed |
|
|
rs199841979 CA201585009 |
818 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375556388 rs1382765209 |
819 | L>P | No |
ClinGen gnomAD |
|
|
CA5341353 rs779375653 |
820 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs779375653 CA5341352 |
820 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA375556374 rs1245057191 |
822 | T>A | No |
ClinGen gnomAD |
|
|
RCV000121667 CA161161 rs587778562 |
825 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5341297 rs754775789 |
825 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341294 rs760376139 |
827 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA5341293 rs772945824 |
828 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375555525 rs1221479422 |
831 | A>T | No |
ClinGen gnomAD |
|
|
CA5341291 rs761406127 |
831 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775954717 CA5341288 |
833 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375555488 RCV000521013 rs1554728847 |
834 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs747068023 CA5341283 |
836 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341284 rs771038220 |
836 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs777663026 CA5341282 |
837 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369259434 CA375555444 |
841 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376934533 CA5341279 |
842 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375555421 rs1191070636 |
843 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5341275 rs767251474 |
843 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs750170645 CA5341276 |
843 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs761461001 CA5341274 |
844 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA375555382 rs1589063073 |
846 | Q>E | No |
ClinGen Ensembl |
|
|
rs1235141133 CA375555370 |
846 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751138076 CA5341273 |
847 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA375555366 rs1589063066 |
847 | S>P | No |
ClinGen Ensembl |
|
|
rs1239429403 CA375555333 |
849 | D>A | No |
ClinGen TOPMed |
|
|
rs1224974047 CA375555337 |
849 | D>Y | No |
ClinGen gnomAD |
|
|
CA5341271 rs775846884 |
850 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779164170 RCV000522624 |
853 | F>missing | No |
ClinVar dbSNP |
|
|
CA5341268 rs759862433 |
855 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000617389 rs759862433 CA375555234 |
855 | C>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375555193 rs1399644834 |
858 | P>S | No |
ClinGen gnomAD |
|
|
rs1293804194 CA375555147 |
861 | W>* | No |
ClinGen Ensembl |
|
|
CA375555151 rs1469194958 |
861 | W>* | No |
ClinGen TOPMed |
|
|
rs1156367737 CA375555128 |
862 | Q>H | No |
ClinGen TOPMed |
|
|
rs1342719071 CA375555059 |
865 | T>I | No |
ClinGen gnomAD |
|
|
CA201583602 rs763469662 |
866 | C>S | No |
ClinGen TOPMed |
|
|
rs763469662 CA201583604 |
866 | C>Y | No |
ClinGen TOPMed |
|
|
rs1420968156 CA375555038 |
869 | D>N | No |
ClinGen TOPMed |
|
|
CA201583589 rs200235006 |
871 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA375555017 rs767614547 |
871 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341226 rs774605993 |
872 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs762050048 CA5341227 |
872 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762050048 CA375555016 |
872 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341225 rs768791017 |
873 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776698364 CA5341223 |
874 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375554992 rs1291929434 |
876 | S>G | No |
ClinGen gnomAD |
|
|
CA375554988 rs1375520593 |
876 | S>I | No |
ClinGen TOPMed |
|
|
CA5341222 rs770888728 |
876 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs371050668 CA5341221 |
877 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs587778563 CA201583556 |
879 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_048990 rs11574895 |
879 | R>W | No |
UniProt dbSNP |
|
|
rs374946182 CA5341217 |
880 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374946182 CA5341216 |
880 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1280548120 CA375554971 |
880 | H>Y | No |
ClinGen TOPMed |
|
|
rs756555345 CA5341214 |
881 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341212 rs767886377 |
882 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375554957 rs1387879416 |
882 | A>V | No |
ClinGen gnomAD |
|
|
RCV000619057 rs764327751 CA5341209 |
885 | Q>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1237694934 CA375554929 |
886 | N>K | No |
ClinGen TOPMed |
|
|
rs1589062695 CA375554926 |
887 | T>A | No |
ClinGen Ensembl |
|
|
CA375554905 rs1199428564 |
890 | G>D | No |
ClinGen gnomAD |
|
|
rs1248255443 CA375554907 |
890 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5341203 rs199506721 |
892 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5341202 rs199506721 |
892 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA375554881 rs1466122700 |
894 | H>Y | No |
ClinGen TOPMed |
|
|
CA375554851 rs1166646402 |
898 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5341200 rs748777783 |
898 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275085350 CA375554844 |
899 | Y>C | No |
ClinGen TOPMed |
|
|
CA375554837 rs1589062647 |
900 | S>N | No |
ClinGen Ensembl |
|
|
rs1331007243 CA375554840 |
900 | S>R | No |
ClinGen gnomAD |
|
|
rs1322208657 CA375554833 |
900 | S>R | No |
ClinGen gnomAD |
|
|
CA375554800 rs1299690839 |
905 | E>D | No |
ClinGen TOPMed |
|
|
CA5341197 rs750876781 |
905 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1426961140 CA375554797 |
906 | T>A | No |
ClinGen gnomAD |
|
|
rs1589062615 CA375554789 |
907 | D>G | No |
ClinGen Ensembl |
|
|
rs757628476 CA5341195 |
907 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1375849495 CA375554780 |
908 | I>S | No |
ClinGen gnomAD |
|
|
CA375554775 rs1238885629 |
909 | D>A | No |
ClinGen gnomAD |
|
|
rs763217096 CA5341193 |
909 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763217096 CA5341192 |
909 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589062589 CA375554770 |
910 | D>A | No |
ClinGen Ensembl |
|
|
rs765293859 CA5341190 |
910 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765293859 CA375554771 |
910 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341188 rs773185855 |
912 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375554747 rs1242966995 |
914 | N>D | No |
ClinGen gnomAD |
|
|
rs1242966995 CA375554748 |
914 | N>H | No |
ClinGen gnomAD |
|
|
CA5341154 rs755058802 |
915 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375554725 rs755058802 |
915 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373787791 CA375554702 |
918 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375554701 rs1478316908 |
919 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1158774637 CA375554692 |
920 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA375554695 rs1423374245 |
920 | G>S | No |
ClinGen gnomAD |
|
|
rs1470997215 CA375554684 |
921 | S>F | No |
ClinGen gnomAD |
|
|
CA375553881 rs1460078310 |
923 | T>A | No |
ClinGen Ensembl |
|
|
rs1185244056 CA375553877 |
923 | T>I | No |
ClinGen gnomAD |
|
|
CA375553871 rs1348998913 |
924 | D>G | No |
ClinGen TOPMed |
|
|
CA201582101 rs867769120 |
925 | G>D | No |
ClinGen Ensembl |
|
|
CA5341148 rs775047070 |
925 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5341147 rs764921648 |
928 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375553840 rs1218875928 |
929 | A>D | No |
ClinGen gnomAD |
|
|
CA5341144 rs758642073 |
932 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375553799 rs1230159701 |
935 | P>S | No |
ClinGen TOPMed |
|
|
rs1292928234 CA375553793 |
936 | G>A | No |
ClinGen gnomAD |
|
|
CA5341142 rs773847667 |
936 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375553776 rs1333548047 |
939 | G>D | No |
ClinGen gnomAD |
|
|
CA5341139 rs755262212 |
941 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA375553748 rs1435335355 |
943 | E>G | No |
ClinGen gnomAD |
|
|
CA5341136 rs756174213 |
945 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780124510 CA5341137 |
945 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs751565489 CA5341135 |
947 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5341134 rs777658333 |
950 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5341132 rs752567536 |
952 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA5341133 rs758240214 |
952 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs557049479 CA375553664 |
955 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5341129 rs753419325 |
956 | N>D | No |
ClinGen ExAC TOPMed |
|
|
rs753419325 CA375553663 |
956 | N>H | No |
ClinGen ExAC TOPMed |
|
|
rs760227470 CA375553659 |
956 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341128 rs375009935 |
956 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773902766 CA5341126 |
957 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358942894 CA375553643 |
959 | N>T | No |
ClinGen gnomAD |
|
|
CA375553635 rs1402064977 |
960 | C>Y | No |
ClinGen gnomAD |
|
|
rs768849474 CA5341122 |
963 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5341120 rs780251851 |
964 | V>M | No |
ClinGen ExAC |
|
|
rs745928497 CA5341118 |
966 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1475254769 CA375553592 |
966 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1433433969 CA375553586 |
967 | Y>C | No |
ClinGen gnomAD |
|
|
CA375553590 rs1419456641 |
967 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1382743269 CA375553581 |
968 | T>A | No |
ClinGen gnomAD |
|
|
CA5341117 rs781201059 |
968 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571425395 CA5341114 |
970 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200699541 CA375553551 |
973 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA201581968 rs770226987 |
973 | A>V | No |
ClinGen TOPMed |
|
|
CA5341110 rs760352129 |
974 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA201581957 rs759897410 |
977 | G>E | No |
ClinGen Ensembl |
|
|
rs1240954845 CA375553525 |
977 | G>R | No |
ClinGen gnomAD |
|
|
rs1305060821 CA375553521 |
978 | I>L | No |
ClinGen gnomAD |
|
|
CA375553513 rs1380298048 |
979 | H>Y | No |
ClinGen gnomAD |
|
|
rs774711621 CA5341106 |
981 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA375553465 rs1335400945 |
985 | P>L | No |
ClinGen TOPMed |
|
|
CA375553461 rs1159854754 |
986 | D>A | No |
ClinGen gnomAD |
|
|
rs1564194048 CA375553463 |
986 | D>H | No |
ClinGen Ensembl |
|
|
CA201581289 rs1054240778 |
991 | S>F | No |
ClinGen TOPMed |
|
|
rs745586751 CA5341075 |
993 | F>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000121672 CA161171 rs587778564 |
994 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1331057352 CA375553212 |
996 | G>S | No |
ClinGen TOPMed |
|
|
CA375553190 rs1589061452 |
997 | T>P | No |
ClinGen Ensembl |
|
|
rs756840659 CA5341073 |
999 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000621494 CA5341071 rs763621169 |
1001 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375553055 rs1589061443 |
1003 | N>T | No |
ClinGen Ensembl |
|
|
CA201581250 rs201163739 |
1004 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337854523 CA375553046 |
1004 | S>A | No |
ClinGen gnomAD |
|
|
CA5341068 rs367860186 |
1006 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589061437 CA375553025 |
1006 | T>P | No |
ClinGen Ensembl |
|
|
CA375552965 rs1327771992 |
1011 | P>L | No |
ClinGen gnomAD |
|
|
CA375552960 rs1173067119 |
1012 | G>D | No |
ClinGen gnomAD |
|
|
rs1434069438 CA375552945 |
1013 | F>L | No |
ClinGen gnomAD |
|
|
CA375552939 rs1393225618 |
1014 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1181594680 CA375552940 |
1014 | T>S | No |
ClinGen TOPMed |
|
|
rs868495587 CA201581183 |
1016 | S>R | No |
ClinGen Ensembl |
|
|
CA375552868 rs1181437947 |
1021 | D>G | No |
ClinGen gnomAD |
|
|
RCV000617931 rs760908627 CA5341064 |
1021 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1436414503 CA375552857 |
1023 | N>D | No |
ClinGen gnomAD |
|
|
rs937138982 CA201581171 |
1023 | N>S | No |
ClinGen gnomAD |
|
|
rs1212088819 CA375552846 |
1024 | E>V | No |
ClinGen gnomAD |
|
|
CA5341062 rs772134978 |
1026 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397562033 CA375552792 |
1032 | H>R | No |
ClinGen TOPMed |
|
|
CA201581158 rs928471137 |
1033 | G>D | No |
ClinGen TOPMed |
|
|
CA201581147 rs946129930 |
1036 | C>F | No |
ClinGen gnomAD |
|
|
CA375552768 rs946129930 |
1036 | C>S | No |
ClinGen gnomAD |
|
|
CA375552763 rs1408874772 |
1037 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5341057 rs780991695 |
1039 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1256020862 CA375552737 |
1041 | G>D | No |
ClinGen gnomAD |
|
|
rs375260339 CA201581139 |
1041 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA375552729 rs1219508164 |
1042 | S>F | No |
ClinGen gnomAD |
|
|
CA375552701 rs1316963008 |
1046 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5341056 rs770521856 |
1048 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172430727 CA375552683 |
1049 | Q>R | No |
ClinGen gnomAD |
|
|
CA375552675 rs1272970231 |
1050 | G>D | No |
ClinGen TOPMed |
|
|
CA201581127 rs957620650 |
1050 | G>S | No |
ClinGen Ensembl |
|
|
rs370889733 CA5341055 |
1052 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223895336 CA375552662 |
1052 | T>S | No |
ClinGen TOPMed |
|
|
rs1018501056 CA201581124 |
1054 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1018501056 CA201581125 |
1054 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375552644 rs1431940702 |
1055 | N>K | No |
ClinGen TOPMed |
|
|
CA5341025 rs764204904 |
1058 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs759406527 CA5341024 |
1059 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs776624865 CA5341023 |
1059 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759406527 CA375552510 |
1059 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1407899497 CA375552479 |
1061 | H>R | No |
ClinGen gnomAD |
|
|
rs766126767 CA5341022 |
1061 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
RCV000121674 rs587778565 CA161175 |
1064 | D>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA5341020 rs772942992 |
1065 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341019 rs771739312 |
1066 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5341017 rs547455916 |
1067 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375552317 rs587778566 |
1071 | G>C | No |
ClinGen gnomAD |
|
|
CA5341014 rs780582836 |
1072 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375552233 rs1233569898 |
1078 | H>Y | No |
ClinGen gnomAD |
|
|
rs757558283 CA5341010 |
1079 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA201580580 rs1010573276 |
1079 | T>I | No |
ClinGen Ensembl |
|
|
rs751776024 CA5341009 |
1080 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1589061007 CA375552190 |
1081 | Y>S | No |
ClinGen Ensembl |
|
|
rs1386494518 CA375552178 |
1082 | R>C | No |
ClinGen TOPMed |
|
|
CA5341007 rs758471372 |
1082 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375552153 rs139994842 |
1083 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766361207 CA5341005 |
1084 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs543586029 CA375552086 |
1087 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5341002 rs531420022 |
1088 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1589060986 CA375552044 |
1090 | T>P | No |
ClinGen Ensembl |
|
|
rs1211971714 CA375551951 |
1095 | D>G | No |
ClinGen gnomAD |
|
|
rs774818130 CA5340997 |
1095 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369730402 CA5340995 |
1096 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5340993 rs61751546 |
1098 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375551878 rs1182003817 |
1100 | S>P | No |
ClinGen TOPMed |
|
|
CA5340992 rs778118508 |
1105 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765158901 CA5340990 |
1106 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5340958 rs772310059 |
1109 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA375551700 rs772310059 |
1109 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5340956 rs778969906 |
1110 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1304935581 CA375551642 |
1113 | A>T | No |
ClinGen gnomAD |
|
|
CA161181 rs377351349 RCV000618881 RCV000121677 |
1113 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5340952 rs751398945 |
1114 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000521074 CA5340951 rs777684045 |
1114 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375551599 rs1167229873 |
1116 | C>Y | No |
ClinGen gnomAD |
|
|
CA5340948 rs764816819 RCV000617285 |
1117 | Q>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs765929402 CA5340945 |
1119 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs765929402 CA5340946 |
1119 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA375551504 rs1589060802 |
1122 | C>Y | No |
ClinGen Ensembl |
|
|
rs530959956 CA375551466 |
1124 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340942 rs767963898 |
1125 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375551411 rs1340595829 |
1128 | T>M | No |
ClinGen gnomAD |
|
|
rs749446285 CA5340938 |
1129 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775565457 CA5340937 |
1130 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA201580273 rs978263371 |
1130 | H>R | No |
ClinGen TOPMed |
|
|
CA5340936 rs769854763 |
1132 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336014812 CA375551348 |
1132 | R>H | No |
ClinGen gnomAD |
|
|
rs1336014812 CA375551352 |
1132 | R>P | No |
ClinGen gnomAD |
|
|
CA5340934 rs758304923 |
1134 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374230681 CA5340935 |
1134 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5340933 rs370300490 |
1135 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375551290 rs1394605454 |
1136 | G>D | No |
ClinGen gnomAD |
|
|
CA375551260 rs1471256799 |
1138 | T>R | No |
ClinGen gnomAD |
|
|
rs754686479 CA5340931 |
1139 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5340929 rs766052961 |
1143 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375551155 rs1212292354 |
1144 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5340928 rs755547564 |
1145 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589060737 CA375551132 |
1147 | D>N | No |
ClinGen Ensembl |
|
|
CA201580213 rs878957743 |
1149 | C>R | No |
ClinGen Ensembl |
|
|
rs1048656395 CA201580208 |
1150 | S>L | No |
ClinGen Ensembl |
|
|
CA375551092 rs1354855330 |
1152 | S>R | No |
ClinGen TOPMed |
|
|
rs1414132364 CA375551041 |
1160 | C>Y | No |
ClinGen gnomAD |
|
|
CA5340921 rs769903954 |
1161 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA5340920 rs769903954 |
1161 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs776729750 CA5340918 |
1162 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs938144258 CA201580173 |
1163 | Y>C | No |
ClinGen Ensembl |
|
|
rs754815022 CA5340914 |
1166 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375190395 CA5340913 |
1168 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375550186 rs1234358553 |
1172 | V>M | No |
ClinGen gnomAD |
|
|
CA5340887 rs753060918 |
1173 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA375550155 rs1272399533 |
1174 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1226270364 CA375550152 |
1174 | G>D | No |
ClinGen gnomAD |
|
|
CA375550157 rs1272399533 |
1174 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5340884 rs754086177 |
1177 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375550092 rs1589060348 |
1178 | V>G | No |
ClinGen Ensembl |
|
|
CA375550075 rs1364764887 |
1179 | N>I | No |
ClinGen gnomAD |
|
|
rs1589060346 CA375550070 |
1179 | N>K | No |
ClinGen Ensembl |
|
|
rs1218904003 CA375550061 |
1180 | C>Y | No |
ClinGen gnomAD |
|
|
rs766409196 CA5340883 |
1181 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA375550012 rs1254642967 |
1183 | E>A | No |
ClinGen TOPMed |
|
|
CA5340882 rs760814014 |
1183 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300209111 CA375550014 |
1183 | E>K | No |
ClinGen gnomAD |
|
|
rs548083258 CA5340880 |
1185 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1013688544 CA201579610 |
1186 | E>K | No |
ClinGen TOPMed |
|
|
rs1589060325 CA375549940 |
1187 | C>S | No |
ClinGen Ensembl |
|
|
rs1462977790 CA375549927 |
1188 | L>F | No |
ClinGen gnomAD |
|
|
rs1589060316 CA375549924 |
1188 | L>P | No |
ClinGen Ensembl |
|
|
rs899251734 CA201579609 |
1189 | S>P | No |
ClinGen Ensembl |
|
|
rs775438678 CA5340878 |
1190 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA375549889 rs769619561 |
1190 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201579598 rs866251951 |
1192 | C>F | No |
ClinGen Ensembl |
|
|
CA5340875 rs61751544 |
1193 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1409724481 CA375549855 |
1193 | Q>R | No |
ClinGen gnomAD |
|
|
rs746547529 CA5340873 |
1194 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777194812 CA5340872 |
1195 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777194812 CA375549824 |
1195 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375549779 rs1212995614 |
1196 | G>A | No |
ClinGen gnomAD |
|
|
rs1589060274 CA375549775 |
1197 | T>N | No |
ClinGen Ensembl |
|
|
rs758916522 CA5340871 |
1197 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5340869 rs755337760 |
1201 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1200315795 CA375549736 |
1203 | N>S | No |
ClinGen gnomAD |
|
|
rs952814301 CA201579527 |
1204 | T>I | No |
ClinGen Ensembl |
|
|
rs887942248 CA201579522 |
1205 | Y>C | No |
ClinGen TOPMed |
|
|
CA5340868 rs754056142 |
1206 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756362905 CA5340866 |
1211 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766644919 CA5340867 |
1211 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375549679 rs1266104990 |
1212 | G>D | No |
ClinGen gnomAD |
|
|
rs1417123626 CA375549682 |
1212 | G>S | No |
ClinGen gnomAD |
|
|
rs750536437 CA5340865 |
1213 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750536437 CA10587668 RCV000242165 |
1213 | T>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs769209011 CA5340834 |
1216 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419481208 CA375549637 |
1217 | H>R | No |
ClinGen TOPMed |
|
|
CA375549640 rs1327576450 |
1217 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA375549630 rs1441346363 |
1218 | C>Y | No |
ClinGen gnomAD |
|
|
rs1389804069 CA375549606 |
1221 | N>S | No |
ClinGen gnomAD |
|
|
CA375549610 rs1376561044 |
1221 | N>Y | No |
ClinGen gnomAD |
|
|
CA375549594 rs1169233424 |
1223 | D>G | No |
ClinGen gnomAD |
|
|
rs373064962 CA5340830 |
1223 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375549584 rs1195787179 |
1224 | D>E | No |
ClinGen gnomAD |
|
|
CA5340828 rs757508359 |
1224 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751695210 CA5340827 |
1226 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1267060166 CA375549572 |
1226 | N>S | No |
ClinGen gnomAD |
|
|
CA5340825 rs754998450 |
1227 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777652834 CA5340826 RCV000618852 |
1227 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs777652834 CA375549568 |
1227 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561646185 CA201579024 |
1228 | P>L | No |
ClinGen TOPMed |
|
|
rs561646185 CA375549561 |
1228 | P>R | No |
ClinGen TOPMed |
|
|
CA201579028 rs931215108 |
1228 | P>S | No |
ClinGen gnomAD |
|
|
CA375549557 rs1564192075 |
1229 | V>A | No |
ClinGen Ensembl |
|
|
CA5340823 rs766198119 |
1229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375549538 rs1320653846 |
1232 | V>A | No |
ClinGen TOPMed |
|
|
CA375549532 rs1230913341 |
1233 | S>C | No |
ClinGen TOPMed |
|
|
rs761304479 CA5340820 |
1234 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340818 rs773926521 |
1234 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761304479 CA5340819 |
1234 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947906352 CA375549525 |
1235 | S>N | No |
ClinGen gnomAD |
|
|
rs947906352 CA201579016 |
1235 | S>T | No |
ClinGen gnomAD |
|
|
CA375549517 rs1241855040 |
1236 | P>L | No |
ClinGen TOPMed |
|
|
rs576434469 CA5340816 |
1237 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375549499 rs1478449371 |
1239 | F>V | No |
ClinGen gnomAD |
|
|
rs1485182747 CA375549481 |
1241 | N>S | No |
ClinGen TOPMed |
|
|
CA5340814 rs558191127 |
1242 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375549468 rs1474959824 |
1243 | T>I | No |
ClinGen TOPMed |
|
|
CA201578993 rs939231983 |
1244 | C>Y | No |
ClinGen TOPMed |
|
|
rs926643780 CA201578990 |
1245 | V>M | No |
ClinGen TOPMed |
|
|
rs1564192004 CA375549454 |
1246 | D>N | No |
ClinGen Ensembl |
|
|
CA375549439 rs1205135944 |
1248 | V>M | No |
ClinGen gnomAD |
|
|
rs1481767471 CA375549433 |
1249 | G>S | No |
ClinGen gnomAD |
|
|
CA5340811 rs771192471 |
1250 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747181912 CA5340810 |
1251 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs80340744 CA5340809 |
1256 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375549383 rs80340744 |
1256 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200245794 CA5340806 |
1257 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761586260 CA5340804 |
1259 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs751169922 CA5340802 |
1260 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1415111675 CA375549318 |
1263 | R>C | No |
ClinGen gnomAD |
|
|
CA375549315 rs377594681 |
1263 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760055967 CA5340797 |
1266 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs777189816 CA5340796 |
1270 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778873144 CA201578934 |
1271 | C>R | No |
ClinGen Ensembl |
|
|
rs1187634949 CA375549147 |
1274 | N>D | No |
ClinGen gnomAD |
|
|
rs1589059788 CA375549132 |
1275 | P>S | No |
ClinGen Ensembl |
|
|
rs1589059784 CA375549104 |
1276 | C>R | No |
ClinGen Ensembl |
|
|
CA375549084 rs1406056612 |
1278 | A>T | No |
ClinGen TOPMed |
|
|
CA5340792 rs772287969 |
1278 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000246340 CA5340791 rs182330532 RCV000484160 |
1279 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1357212870 CA375549072 |
1280 | G>D | No |
ClinGen gnomAD |
|
|
CA375549059 rs1589059763 |
1282 | Q>R | No |
ClinGen Ensembl |
|
|
CA5340790 rs756057884 |
1283 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs377289044 CA5340789 RCV000788673 |
1284 | C>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA375549041 rs756972680 |
1285 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375549032 rs1402624273 |
1286 | Q>R | No |
ClinGen gnomAD |
|
|
CA5340786 rs751275854 |
1287 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5340782 rs764785739 |
1288 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340783 rs752264096 |
1288 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281437674 CA375549017 |
1289 | N>S | No |
ClinGen TOPMed |
|
|
CA375549008 rs1347832105 RCV000497332 |
1290 | D>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1472162732 CA375549012 |
1290 | D>N | No |
ClinGen gnomAD |
|
|
rs1247035429 CA375548981 |
1294 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1056341092 CA201578879 |
1296 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5340779 rs368400902 |
1296 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA201578870 rs926571912 |
1297 | A>V | No |
ClinGen TOPMed |
|
|
rs760966826 CA5340778 |
1298 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs767910707 CA5340760 |
1302 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs762091081 CA5340759 |
1302 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774526596 CA5340758 |
1303 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775602958 CA5340755 |
1305 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375548892 rs962360001 |
1306 | S>F | No |
ClinGen gnomAD |
|
|
CA201578764 rs962360001 |
1306 | S>Y | No |
ClinGen gnomAD |
|
|
rs746910989 CA5340753 |
1307 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340751 rs771957771 |
1309 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA375548869 rs1482708510 |
1310 | G>D | No |
ClinGen gnomAD |
|
|
CA375548834 rs1322911019 |
1315 | P>S | No |
ClinGen TOPMed |
|
|
rs1314093394 CA375548811 |
1318 | N>S | No |
ClinGen gnomAD |
|
|
rs1227253271 CA375548807 |
1319 | G>R | No |
ClinGen TOPMed |
|
|
CA375548797 rs1365988179 |
1320 | G>D | No |
ClinGen gnomAD |
|
|
rs1268504383 CA375548801 |
1320 | G>S | No |
ClinGen TOPMed |
|
|
CA375548798 rs1365988179 |
1320 | G>V | No |
ClinGen gnomAD |
|
|
CA5340745 rs149057410 |
1324 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149057410 RCV000251008 CA5340744 |
1324 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767910007 CA5340743 |
1325 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375548727 rs1174974632 |
1326 | S>F | No |
ClinGen gnomAD |
|
|
CA375548736 rs1359369535 |
1326 | S>P | No |
ClinGen gnomAD |
|
|
rs373256282 CA5340742 |
1327 | N>D | No |
ClinGen ESP ExAC |
|
|
CA5340741 rs751874720 |
1327 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340739 rs763098618 |
1329 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375548680 rs1249540119 |
1330 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1180096756 CA375548677 |
1330 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1209728451 CA375548662 |
1331 | G>E | No |
ClinGen gnomAD |
|
|
rs769908800 CA5340737 |
1331 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340735 rs773175572 |
1332 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5340734 rs772084075 |
1333 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA375548586 rs1415241091 |
1335 | K>N | No |
ClinGen TOPMed |
|
|
CA5340733 rs747985253 |
1335 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA375548540 rs1397249771 RCV000621772 |
1338 | A>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs372767143 CA5340710 |
1341 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372767143 CA5340711 |
1341 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775187426 CA5340708 |
1342 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs748933222 CA5340709 RCV000245893 |
1342 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5340702 rs758762148 |
1347 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA375548359 rs1169329206 |
1348 | D>H | No |
ClinGen gnomAD |
|
|
rs1169329206 CA375548361 |
1348 | D>N | No |
ClinGen gnomAD |
|
|
rs553328686 CA201578197 |
1349 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1419950789 CA375548332 |
1350 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375548312 rs1357611221 |
1351 | T>I | No |
ClinGen TOPMed |
|
|
rs1589059043 CA375548323 |
1351 | T>P | No |
ClinGen Ensembl |
|
|
rs1274662962 CA375650019 |
1353 | G>D | No |
ClinGen gnomAD |
|
|
CA5340697 rs761908188 RCV000788866 |
1353 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1589059022 CA375649987 |
1355 | L>P | No |
ClinGen Ensembl |
|
|
rs774399602 CA5340696 |
1355 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs587778567 CA161193 RCV000658393 RCV000121683 |
1356 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA375649977 rs864622727 |
1356 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000788669 rs769493139 RCV000254268 CA5340693 |
1360 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5340691 rs776179600 |
1362 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375649850 rs1429266916 |
1362 | T>I | No |
ClinGen gnomAD |
|
|
CA375649826 rs1174580442 |
1364 | I>V | No |
ClinGen gnomAD |
|
|
rs778270588 CA5340689 |
1366 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340687 rs758787267 |
1367 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375649785 rs1197737936 |
1367 | P>T | No |
ClinGen gnomAD |
|
|
CA375649766 rs1231118590 |
1368 | R>C | No |
ClinGen gnomAD |
|
|
rs779086531 CA5340685 |
1368 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201645158 rs947424604 |
1369 | S>G | No |
ClinGen TOPMed |
|
|
CA375649747 rs1377417317 |
1369 | S>N | No |
ClinGen TOPMed |
|
|
rs754107599 CA5340683 |
1371 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1064796867 CA16618802 RCV000480388 |
1374 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375649616 rs1230011586 |
1379 | T>A | No |
ClinGen gnomAD |
|
|
CA375649611 rs764123906 |
1379 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764123906 CA201645137 |
1379 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764123906 CA5340680 |
1379 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752551426 CA5340678 |
1381 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1589058950 CA375649590 |
1381 | P>S | No |
ClinGen Ensembl |
|
|
CA5340676 rs759253791 |
1382 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs764931034 CA201645117 |
1382 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5340677 rs764931034 |
1382 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1369097651 CA375649538 |
1384 | Q>P | No |
ClinGen gnomAD |
|
|
CA375649524 rs1291346876 |
1385 | F>S | No |
ClinGen gnomAD |
|
|
rs776239050 CA5340675 |
1386 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772639563 CA5340672 |
1387 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA375649415 rs1159134576 |
1389 | S>I | No |
ClinGen gnomAD |
|
|
rs1159134576 CA375649417 |
1389 | S>N | No |
ClinGen gnomAD |
|
|
CA201645065 rs1042030863 |
1390 | P>H | No |
ClinGen Ensembl |
|
|
CA161197 rs191645600 |
1390 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375649385 rs1238653760 |
1391 | C>Y | No |
ClinGen gnomAD |
|
|
CA5340670 rs748587945 |
1393 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1329672903 CA375649324 |
1394 | G>D | No |
ClinGen gnomAD |
|
|
CA375649331 rs1210347209 |
1394 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs533363434 CA5340668 |
1395 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375649310 rs1221959299 |
1395 | N>I | No |
ClinGen gnomAD |
|
|
rs1245615198 CA375649296 |
1396 | P>H | No |
ClinGen gnomAD |
|
|
CA375649299 rs1285968283 |
1396 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375649301 rs1285968283 |
1396 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1389791465 CA375649173 |
1400 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375649110 rs1320332508 |
1402 | T>A | No |
ClinGen gnomAD |
|
|
CA5340665 rs374451713 |
1402 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375649064 rs1434047791 |
1404 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA375649040 rs1416597670 |
1405 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375649037 rs1416597670 |
1405 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5340663 rs781076949 |
1406 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750536515 CA375649020 |
1406 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340664 rs750536515 |
1406 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758422049 CA5340662 |
1407 | S>P | No |
ClinGen ExAC |
|
|
CA375648933 rs1329771366 |
1408 | E>D | No |
ClinGen TOPMed |
|
|
rs1393297580 CA375648938 |
1408 | E>G | No |
ClinGen TOPMed |
|
|
CA375648922 rs1564191138 |
1409 | S>N | No |
ClinGen Ensembl |
|
|
CA375648908 rs1335014494 |
1410 | P>S | No |
ClinGen TOPMed |
|
|
rs1477947859 CA375648888 |
1411 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1481418937 CA375648734 |
1417 | P>A | No |
ClinGen TOPMed |
|
|
rs1213397897 CA375648726 |
1417 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375648732 rs1481418937 |
1417 | P>S | No |
ClinGen TOPMed |
|
|
rs1290588213 CA375648714 |
1418 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5340659 rs753585226 |
1419 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA375648652 rs1358879475 |
1421 | N>D | No |
ClinGen gnomAD |
|
|
rs76473337 CA5340658 |
1421 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375648630 rs1255471066 |
1422 | G>R | No |
ClinGen TOPMed |
|
|
RCV000121686 CA161199 rs587778568 |
1426 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771476319 CA375648502 |
1427 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363126385 CA375648494 |
1428 | L>V | No |
ClinGen gnomAD |
|
|
rs1169957724 CA375648456 |
1430 | Y>H | No |
ClinGen gnomAD |
|
|
rs1416048252 CA375648442 |
1431 | S>G | No |
ClinGen Ensembl |
|
|
CA201644964 rs751904604 |
1433 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375648348 rs1247192040 |
1435 | G>A | No |
ClinGen gnomAD |
|
|
CA201644961 rs972063184 |
1436 | A>T | No |
ClinGen gnomAD |
|
|
CA5340650 rs780500109 |
1437 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746077264 CA5340648 |
1438 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs200232299 CA5340645 |
1439 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000455808 CA5340644 rs778742968 |
1440 | I>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA375648241 rs1469319457 |
1441 | P>R | No |
ClinGen TOPMed |
|
|
rs754838691 CA5340643 |
1441 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766146375 CA5340641 |
1442 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375648224 rs766146375 |
1442 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766146375 CA5340642 |
1442 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750010764 CA5340639 |
1443 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000620718 CA5340637 rs373960609 RCV000412831 |
1445 | I>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1361115344 CA375648181 |
1445 | I>N | No |
ClinGen gnomAD |
|
|
CA375648159 rs1432651635 |
1446 | E>A | No |
ClinGen gnomAD |
|
|
CA375648120 rs1479377696 |
1448 | A>V | No |
ClinGen gnomAD |
|
|
CA375648083 rs1412849951 |
1450 | E>D | No |
ClinGen gnomAD |
|
|
rs746144524 CA5340631 |
1453 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589058763 CA375648012 |
1455 | Q>P | No |
ClinGen Ensembl |
|
|
rs1314190594 CA375647993 |
1456 | E>D | No |
ClinGen gnomAD |
|
|
CA5340628 rs374352922 |
1458 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375647954 rs1409877762 |
1459 | G>D | No |
ClinGen gnomAD |
|
|
CA375647916 rs1295977045 |
1462 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5340624 rs779863069 |
1465 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359387706 CA375647828 |
1467 | C>F | No |
ClinGen gnomAD |
|
|
rs1484006835 CA375647823 |
1468 | N>D | No |
ClinGen gnomAD |
|
|
CA375647758 rs376799353 |
1471 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375647759 rs1414066424 |
1471 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375647761 rs1414066424 |
1471 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763685504 CA5340618 |
1473 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375647680 rs1387664721 |
1474 | W>* | No |
ClinGen Ensembl |
|
|
CA375647651 rs1484319398 |
1475 | D>G | No |
ClinGen gnomAD |
|
|
CA375647620 rs1460297840 |
1476 | G>D | No |
ClinGen gnomAD |
|
|
CA5340616 rs776133530 RCV000521514 |
1476 | G>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1346928665 CA375647599 |
1477 | G>D | No |
ClinGen TOPMed |
|
|
rs1229508084 CA375647611 |
1477 | G>S | No |
ClinGen gnomAD |
|
|
rs1304149723 CA375647534 |
1481 | L>V | No |
ClinGen gnomAD |
|
|
CA375647517 rs1297061922 |
1482 | N>S | No |
ClinGen TOPMed |
|
|
CA375647468 rs1450149257 |
1485 | D>G | No |
ClinGen gnomAD |
|
|
rs553265305 CA5340607 |
1493 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553265305 CA201644588 |
1493 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5340608 rs749283347 |
1493 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA375647194 rs1250234485 |
1495 | Q>H | No |
ClinGen gnomAD |
|
|
CA201644579 rs1036363986 |
1495 | Q>K | No |
ClinGen Ensembl |
|
|
rs1206095693 CA375647165 |
1497 | W>R | No |
ClinGen gnomAD |
|
|
CA375647156 rs1485825210 |
1497 | W>S | No |
ClinGen gnomAD |
|
|
CA5340605 rs745681787 |
1498 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375647139 rs1213084362 |
1498 | K>R | No |
ClinGen TOPMed |
|
|
CA5340604 rs780991391 |
1499 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA375647074 rs534907223 |
1501 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534907223 CA5340603 |
1501 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375647037 rs1243264280 |
1503 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375647040 rs1243264280 |
1503 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5340601 rs777490131 |
1504 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1297968856 CA375646801 |
1512 | A>V | No |
ClinGen gnomAD |
|
|
CA5340600 rs765844768 |
1513 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340599 rs765839822 |
1515 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs199740882 CA5340598 |
1516 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760875144 CA5340595 |
1518 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA375646595 rs1422526615 |
1518 | G>V | No |
ClinGen Ensembl |
|
|
rs537085062 CA5340594 |
1522 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA201644497 rs746025437 |
1523 | R>C | No |
ClinGen TOPMed |
|
|
CA5340593 rs367589813 |
1523 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5340592 rs761886358 |
1524 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs774374213 CA5340591 RCV000524021 |
1524 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375646382 rs1193391932 |
1526 | G>D | No |
ClinGen gnomAD |
|
|
CA375646380 rs1193391932 |
1526 | G>V | No |
ClinGen gnomAD |
|
|
rs1290330485 CA375646304 |
1529 | N>S | No |
ClinGen gnomAD |
|
|
CA375646098 rs1435648862 |
1530 | P>L | No |
ClinGen gnomAD |
|
|
CA5340559 rs750808945 |
1530 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764136623 CA5340555 |
1533 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375646051 rs764136623 |
1533 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775362416 CA5340553 |
1537 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA375645975 rs1564190652 |
1537 | K>T | No |
ClinGen Ensembl |
|
|
rs1238501314 CA375645949 |
1539 | H>Y | No |
ClinGen gnomAD |
|
|
CA375645904 rs1339004050 |
1542 | D>N | No |
ClinGen gnomAD |
|
|
rs1335169916 CA375645877 |
1543 | G>E | No |
ClinGen gnomAD |
|
|
CA375645886 rs533102436 |
1543 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5340550 rs533102436 |
1543 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459233581 CA375645859 |
1544 | H>L | No |
ClinGen gnomAD |
|
|
CA201644107 rs933070856 |
1546 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA375645814 rs1369806007 |
1547 | Q>E | No |
ClinGen gnomAD |
|
|
rs1164530395 CA375645777 |
1549 | C>* | No |
ClinGen Ensembl |
|
|
RCV000248516 rs774068657 CA5340547 |
1551 | S>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5340548 rs747870544 |
1551 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375645744 rs1438164851 |
1552 | A>T | No |
ClinGen TOPMed |
|
|
rs748862853 CA5340545 |
1552 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375645699 rs1204612954 |
1554 | C>Y | No |
ClinGen gnomAD |
|
|
rs781602537 CA5340541 |
1555 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA375645623 rs751810380 |
1558 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5340539 rs751810380 |
1558 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs752839680 CA5340536 |
1562 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340535 rs765380569 |
1563 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA375645485 rs1423532065 |
1564 | H>R | No |
ClinGen gnomAD |
|
|
rs868811731 CA201644033 |
1566 | P>S | No |
ClinGen gnomAD |
|
|
CA5340532 rs767507174 |
1568 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375645413 rs767507174 |
1568 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444099559 CA375645409 |
1568 | R>S | No |
ClinGen TOPMed |
|
|
rs199860726 CA201644019 |
1570 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199860726 CA5340531 |
1570 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223328273 CA375645357 |
1572 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375645360 rs1223328273 |
1572 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5340528 rs762492041 |
1573 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573864607 CA16605473 RCV000427061 |
1573 | T>M | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
CA201643996 rs990474354 |
1580 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5340524 rs746431035 |
1581 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769288225 CA5340525 |
1581 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5340522 rs771357343 |
1582 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418474023 CA375645172 |
1586 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201360886 CA5340521 |
1586 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777947269 CA375645154 |
1587 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA375645151 rs777947269 |
1587 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1478932098 CA375645158 |
1587 | N>S | No |
ClinGen gnomAD |
|
|
CA375645159 rs1478932098 |
1587 | N>T | No |
ClinGen gnomAD |
|
|
rs1490218456 CA375645112 |
1589 | S>A | No |
ClinGen gnomAD |
|
|
CA375645099 rs1206827343 |
1590 | F>L | No |
ClinGen gnomAD |
|
|
CA375645063 rs1228910844 |
1591 | H>Q | No |
ClinGen gnomAD |
|
|
CA375645077 rs1172278904 |
1591 | H>Y | No |
ClinGen TOPMed |
|
|
CA375645029 rs1326257346 |
1594 | R>Q | No |
ClinGen gnomAD |
|
|
CA375645031 rs1213244424 |
1594 | R>W | No |
ClinGen gnomAD |
|
|
rs1284534643 CA375645006 |
1596 | L>F | No |
ClinGen gnomAD |
|
|
rs779195962 CA5340517 |
1598 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA375644908 rs1470867224 |
1602 | T>A | No |
ClinGen gnomAD |
|
|
CA5340511 rs763765573 |
1604 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762734252 CA5340510 |
1605 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375644856 rs1179030316 |
1606 | F>V | No |
ClinGen gnomAD |
|
|
rs1324346884 CA375644838 |
1607 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA201643935 rs1005968621 |
1607 | K>R | No |
ClinGen gnomAD |
|
|
CA5340509 rs775109231 |
1608 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369467132 CA375644800 |
1610 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223921509 CA375644767 |
1612 | G>D | No |
ClinGen gnomAD |
|
|
CA375644773 rs1166328821 |
1612 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749025461 CA201643921 |
1613 | Q>R | No |
ClinGen Ensembl |
|
|
rs1454349143 CA375644732 |
1614 | Q>H | No |
ClinGen gnomAD |
|
|
rs1277460659 CA375644736 |
1614 | Q>L | No |
ClinGen gnomAD |
|
|
rs1335854366 CA375644666 |
1618 | P>L | No |
ClinGen gnomAD |
|
|
rs1406481520 CA375644672 |
1618 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375644662 rs1171627103 |
1619 | Y>H | No |
ClinGen TOPMed |
|
|
CA375644650 rs1468105794 |
1620 | Y>H | No |
ClinGen gnomAD |
|
|
rs867637156 CA201643920 |
1621 | G>C | No |
ClinGen gnomAD |
|
|
rs867637156 CA375644637 |
1621 | G>S | No |
ClinGen gnomAD |
|
|
CA5340505 rs747447584 |
1622 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747447584 CA375644624 |
1622 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340504 rs778271353 |
1622 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA375644614 rs187112709 |
1623 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA375644566 rs1385740137 |
1626 | L>V | No |
ClinGen TOPMed |
|
|
CA375644555 RCV000520423 rs1203442527 |
1627 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA375644535 rs1317762745 |
1628 | K>M | No |
ClinGen TOPMed |
|
|
CA201643893 rs990403823 |
1631 | I>V | No |
ClinGen gnomAD |
|
|
CA375644480 rs1205847026 |
1632 | K>E | No |
ClinGen gnomAD |
|
|
CA375644467 rs1247642509 |
1633 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs375018022 CA5340498 |
1633 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375644463 rs1247642509 |
1633 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375644454 rs757260114 |
1634 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5340497 rs757260114 |
1634 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs911387577 CA201643884 |
1635 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1275439825 CA375644421 |
1636 | E>D | No |
ClinGen gnomAD |
|
|
CA5340495 rs764006572 |
1636 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375644416 rs1344639057 |
1637 | G>R | No |
ClinGen gnomAD |
|
|
CA201643856 rs981320922 |
1638 | W>L | No |
ClinGen TOPMed |
|
|
CA375644372 rs976118697 |
1640 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1183355532 CA375644366 |
1640 | A>V | No |
ClinGen gnomAD |
|
|
CA201643843 rs961688338 |
1641 | P>R | No |
ClinGen Ensembl |
|
|
CA5340493 rs535702482 |
1641 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1006086442 CA201643819 |
1643 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000617173 RCV001548292 CA201643823 rs566680728 |
1643 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA375644346 rs1006086442 |
1643 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA201643810 rs1034126352 |
1644 | L>P | No |
ClinGen Ensembl |
|
|
CA5340490 rs776162701 |
1648 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1290640224 CA375644271 |
1650 | A>D | No |
ClinGen gnomAD |
|
|
CA375644269 rs1290640224 |
1650 | A>G | No |
ClinGen gnomAD |
|
|
rs1290640224 CA375644268 |
1650 | A>V | No |
ClinGen gnomAD |
|
|
rs1381525257 CA375644218 |
1654 | P>L | No |
ClinGen gnomAD |
|
|
rs550212683 CA5340486 |
1655 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322678641 CA375644215 |
1655 | G>S | No |
ClinGen TOPMed |
|
|
rs1262748307 CA375644165 |
1658 | E>D | No |
ClinGen TOPMed |
|
|
rs1217360911 CA375644174 |
1658 | E>K | No |
ClinGen TOPMed |
|
|
CA375644126 rs1163223024 |
1661 | R>Q | No |
ClinGen gnomAD |
|
|
CA201643745 rs998433493 |
1661 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA375644120 rs1456612268 |
1662 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs769050541 CA5340484 |
1663 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375643999 rs1419790101 |
1668 | P>R | No |
ClinGen TOPMed |
|
|
CA201643730 rs1045824529 |
1669 | M>I | No |
ClinGen Ensembl |
|
|
rs780348772 CA375643942 |
1670 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375643956 rs1157456139 |
1670 | D>Y | No |
ClinGen TOPMed |
|
|
rs372830543 RCV000121691 CA161209 |
1672 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA201642772 rs375408767 |
1675 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375642526 rs1261408162 |
1676 | V>I | No |
ClinGen gnomAD |
|
|
rs1589057362 CA375642496 |
1677 | Y>F | No |
ClinGen Ensembl |
|
|
rs755746883 CA5340452 |
1683 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201642747 rs921318644 |
1686 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375642348 rs1317610421 |
1689 | S>P | No |
ClinGen gnomAD |
|
|
rs61751538 CA201642729 |
1691 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763412232 CA5340446 |
1696 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000619551 rs1417478070 CA375642218 |
1698 | D>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA201642723 rs373328349 |
1698 | D>V | No |
ClinGen ESP TOPMed |
|
|
rs1443819558 CA375642182 |
1701 | A>S | No |
ClinGen gnomAD |
|
|
rs1195173675 CA375642134 |
1705 | A>V | No |
ClinGen gnomAD |
|
|
CA375642127 rs1216073441 |
1707 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778830490 CA5340439 |
1708 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA10605750 RCV000320089 rs886043624 |
1709 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs905363739 CA201642708 |
1713 | N>D | No |
ClinGen TOPMed |
|
|
rs200053816 CA201642704 |
1713 | N>S | No |
ClinGen TOPMed |
|
|
CA375642056 rs200053816 |
1713 | N>T | No |
ClinGen TOPMed |
|
|
rs749151982 CA201642701 |
1715 | P>L | No |
ClinGen Ensembl |
|
|
CA5340434 rs750085425 |
1719 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243107986 CA375641982 |
1720 | A>T | No |
ClinGen Ensembl |
|
|
CA5340432 rs756840901 |
1722 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375641404 rs1264629893 |
1723 | S>N | No |
ClinGen gnomAD |
|
|
CA5340373 rs764048350 |
1725 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA201641817 rs995707317 |
1726 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5340372 rs753810197 |
1727 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA375641328 rs1217972891 |
1727 | E>Q | No |
ClinGen gnomAD |
|
|
CA5340371 rs766358616 |
1728 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375897519 CA375641243 |
1730 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5340367 rs761345476 |
1731 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1208976166 CA375641173 |
1733 | Q>* | No |
ClinGen TOPMed |
|
|
rs780546252 CA5340363 |
1734 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746253027 CA375641085 |
1735 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770247326 CA5340362 |
1735 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1564189045 CA375641118 |
1735 | H>Y | No |
ClinGen Ensembl |
|
|
rs1589056736 CA375641007 |
1737 | M>I | No |
ClinGen Ensembl |
|
|
rs377294245 CA375640988 |
1739 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA201641766 rs377294245 |
1739 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777962754 RCV000518862 CA5340357 |
1740 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs752754662 CA5340355 |
1741 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760669267 CA375640957 |
1742 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340351 rs767215912 |
1743 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773889047 CA201641732 |
1744 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5340350 rs761586042 |
1744 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs532630428 CA5340348 |
1746 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368396893 CA375640868 |
1750 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368396893 CA5340346 |
1750 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589056699 CA375640858 |
1751 | G>C | No |
ClinGen Ensembl |
|
|
rs746342953 CA5340344 |
1756 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777859108 CA375640777 |
1758 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5340339 rs373841359 |
1758 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589056677 CA375640749 |
1760 | R>C | No |
ClinGen Ensembl |
|
|
CA201641659 rs1009338178 |
1760 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs750318685 CA375640733 |
1761 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750318685 CA5340335 |
1761 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340336 rs756191146 |
1761 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA375640685 rs1446572888 |
1765 | G>D | No |
ClinGen gnomAD |
|
|
rs757007389 CA5340333 |
1769 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297787520 CA375640601 |
1771 | E>K | No |
ClinGen gnomAD |
|
|
CA5340331 rs763760510 |
1774 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs367610771 CA201641630 |
1776 | S>P | No |
ClinGen ESP |
|
|
rs986394043 CA201641622 |
1778 | A>P | No |
ClinGen Ensembl |
|
|
rs1422917398 CA375640500 |
1778 | A>V | No |
ClinGen TOPMed |
|
|
CA5340329 rs775019516 |
1781 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375640453 rs1188095516 |
1782 | K>Q | No |
ClinGen gnomAD |
|
|
rs528703507 CA375640431 RCV000522228 |
1783 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs991790983 CA201641609 |
1785 | E>G | No |
ClinGen Ensembl |
|
|
CA5340325 rs771399165 |
1792 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589056587 CA375640316 |
1794 | L>F | No |
ClinGen Ensembl |
|
|
rs557319054 CA5340288 |
1796 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs557319054 CA5340289 |
1796 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA375640201 rs1216304049 |
1796 | P>S | No |
ClinGen gnomAD |
|
|
RCV000621564 rs569203312 CA5340286 |
1800 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5340284 rs376236888 |
1801 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375640112 rs1170030030 |
1802 | D>G | No |
ClinGen gnomAD |
|
|
rs775497405 CA5340280 |
1805 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340276 rs556708225 |
1806 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA375640066 rs1589056398 |
1808 | D>G | No |
ClinGen Ensembl |
|
|
rs571739078 CA5340274 |
1808 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753518244 CA5340272 |
1813 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340270 RCV000618087 rs755659037 |
1813 | W>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5340271 rs755659037 |
1813 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340268 rs768161812 |
1814 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs201968456 CA5340269 |
1814 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201968456 CA375639982 |
1814 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752013175 CA5340266 |
1815 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1291139638 CA375639960 |
1815 | D>N | No |
ClinGen gnomAD |
|
|
CA5340264 rs763140976 |
1816 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1360912475 CA375639840 |
1820 | T>N | No |
ClinGen gnomAD |
|
|
rs1414106410 CA375639805 |
1822 | K>T | No |
ClinGen gnomAD |
|
|
rs775793303 CA5340263 |
1824 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340228 rs778371465 |
1825 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs374103443 CA5340226 |
1826 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1459805992 CA375639595 |
1827 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753154107 CA5340225 |
1828 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765486614 CA5340224 |
1829 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425070721 CA375639499 |
1832 | P>R | No |
ClinGen gnomAD |
|
|
CA5340223 rs755258425 |
1832 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA201641073 rs991135448 |
1834 | L>P | No |
ClinGen Ensembl |
|
|
CA5340219 rs200100726 |
1836 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375639343 rs1162527050 |
1838 | T>R | No |
ClinGen gnomAD |
|
|
rs927761523 CA201641058 |
1840 | H>R | No |
ClinGen Ensembl |
|
|
rs1290643339 CA375639303 |
1841 | R>Q | No |
ClinGen TOPMed |
|
|
CA375639279 rs1589056256 |
1843 | W>G | No |
ClinGen Ensembl |
|
|
rs1328978472 CA375639230 |
1847 | H>Q | No |
ClinGen Ensembl |
|
|
rs35652719 CA5340215 |
1848 | L>M | Aortic valve disease 1 (aovd1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1340087522 CA375639202 |
1851 | A>T | No |
ClinGen gnomAD |
|
|
rs966763282 CA201641045 |
1853 | L>P | No |
ClinGen gnomAD |
|
|
RCV000617738 CA5340211 rs376689092 |
1854 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA375639119 rs1370862526 |
1857 | A>G | No |
ClinGen gnomAD |
|
|
CA5340206 rs375102032 |
1858 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5340208 rs779337715 |
1858 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375639090 rs1266401977 |
1859 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1179938217 CA375639079 |
1860 | P>L | No |
ClinGen TOPMed |
|
|
rs754163232 CA5340205 |
1862 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5340202 rs750560277 |
1865 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs750560277 CA201641023 |
1865 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA375638982 rs1478084229 |
1868 | D>V | No |
ClinGen TOPMed |
|
|
CA375638974 rs200603539 |
1869 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375638964 rs1313068805 |
1870 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs377161502 CA5340196 |
1872 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759431974 CA5340197 |
1872 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760213571 CA5340194 |
1874 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375638864 rs1446708596 |
1877 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5340193 rs772843787 |
1877 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs777968589 CA5340164 |
1881 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs545259523 CA5340162 |
1884 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755032609 CA5340163 |
1884 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA375637798 rs1185970144 |
1888 | A>T | No |
ClinGen gnomAD |
|
|
CA5340157 RCV001577372 rs761427888 RCV001263415 |
1892 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA375637717 rs1292487339 |
1893 | G>V | No |
ClinGen gnomAD |
|
|
rs1334842062 CA375637714 |
1894 | G>S | No |
ClinGen gnomAD |
|
|
CA5340152 rs770293205 |
1895 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375637641 rs1340833042 |
1898 | G>R | No |
ClinGen TOPMed |
|
|
CA375637601 rs1461016990 |
1900 | S>N | No |
ClinGen gnomAD |
|
|
CA375637609 rs200190466 |
1900 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758564262 CA5340146 |
1901 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375637524 rs1467212423 |
1904 | E>K | No |
ClinGen gnomAD |
|
|
rs1330630388 CA375637515 |
1905 | D>N | No |
ClinGen TOPMed |
|
|
rs779880917 CA5340144 |
1906 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340143 rs756056361 |
1906 | A>V | No |
ClinGen ExAC |
|
|
rs970443298 CA201638571 |
1907 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5340140 rs781040422 |
1908 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10587666 rs886039188 RCV000248091 |
1908 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751228412 CA5340138 |
1909 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375637451 rs1317920760 |
1910 | I>M | No |
ClinGen gnomAD |
|
|
CA375637434 rs1363298001 |
1912 | D>G | No |
ClinGen TOPMed |
|
|
CA5340136 rs375978224 |
1912 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589055493 CA375637390 |
1915 | Y>S | No |
ClinGen Ensembl |
|
|
CA375637341 rs1233343546 |
1918 | A>P | No |
ClinGen gnomAD |
|
|
rs1451972572 CA375637274 |
1921 | H>Q | No |
ClinGen TOPMed |
|
|
CA375637287 rs1368554298 |
1921 | H>Y | No |
ClinGen gnomAD |
|
|
CA5340133 rs765708087 |
1922 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5340132 RCV000248613 RCV000429642 rs199652954 |
1926 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5340131 rs771407924 |
1926 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408417952 CA375637164 |
1928 | G>S | No |
ClinGen gnomAD |
|
|
rs1393668813 CA591367273 |
1932 | L>* | No |
ClinGen gnomAD |
|
|
rs1458655386 CA375637029 |
1935 | A>T | No |
ClinGen gnomAD |
|
|
CA5340124 rs374787627 |
1935 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs997320046 CA201638523 |
1936 | A>S | No |
ClinGen gnomAD |
|
|
rs997320046 CA375637013 |
1936 | A>T | No |
ClinGen gnomAD |
|
|
CA375636985 rs1278840702 |
1937 | R>L | No |
ClinGen gnomAD |
|
|
rs745809124 CA5340122 |
1940 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs897872809 CA201638513 |
1940 | R>H | No |
ClinGen Ensembl |
|
|
CA5340120 rs757053542 |
1941 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440167765 CA375636833 |
1946 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777423973 CA5340118 |
1946 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313665866 CA375636816 |
1948 | L>Q | No |
ClinGen gnomAD |
|
|
rs758019601 CA5340117 |
1951 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs764798860 CA5340115 |
1952 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA375636695 rs1589055421 |
1955 | N>S | No |
ClinGen Ensembl |
|
|
rs1420180647 CA375636677 |
1956 | I>T | No |
ClinGen gnomAD |
|
|
CA5340114 rs201174576 |
1957 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375636562 rs1473465863 |
1961 | G>S | No |
ClinGen gnomAD |
|
|
CA375636545 rs1186696796 |
1962 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1484525055 CA375636541 |
1962 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA375636533 rs1589055403 |
1963 | T>P | No |
ClinGen Ensembl |
|
|
rs1387329667 CA375636490 |
1964 | P>L | No |
ClinGen Ensembl |
|
|
rs772463545 CA5340109 |
1967 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs928891665 CA201638473 |
1971 | A>D | No |
ClinGen Ensembl |
|
|
RCV000618335 rs1414380652 CA375636352 |
1972 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5340105 rs749262588 |
1973 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5340071 rs763052700 |
1982 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764422420 CA5340072 |
1982 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA375634787 rs1371022203 |
1991 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1014152881 CA201637787 |
1992 | M>I | No |
ClinGen Ensembl |
|
|
CA375634758 rs1177828638 |
1993 | H>R | No |
ClinGen gnomAD |
|
|
CA5340067 rs773137647 |
1996 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1196509879 CA375634681 |
1997 | T>M | No |
ClinGen gnomAD |
|
|
rs1252740357 CA375634688 |
1997 | T>S | No |
ClinGen gnomAD |
|
|
rs934521378 CA201637778 |
2003 | A>G | No |
ClinGen TOPMed |
|
|
rs934521378 CA375634560 |
2003 | A>V | No |
ClinGen TOPMed |
|
|
CA375634549 rs1589054589 |
2004 | R>C | No |
ClinGen Ensembl |
|
|
rs374168429 CA5340061 |
2007 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1477776194 CA375634476 |
2008 | E>K | No |
ClinGen TOPMed |
|
|
CA375634452 rs1085307554 RCV000490218 |
2010 | M>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs745335873 CA5340059 |
2015 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5340060 rs769436618 |
2015 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000599316 rs1554826736 |
2016 | N>missing | No |
ClinVar dbSNP |
|
|
rs904390061 CA201637767 |
2017 | S>L | No |
ClinGen Ensembl |
|
|
rs202198360 CA5340058 |
2018 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs3812597 CA5340056 |
2019 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs3812597 CA5340055 |
2019 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369621601 CA5340050 |
2022 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375634275 rs1181025067 |
2023 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5340047 rs774262180 |
2024 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA375634126 rs1162986139 |
2030 | S>C | No |
ClinGen gnomAD |
|
|
CA201637635 rs932710972 |
2031 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs932710972 CA201637638 |
2031 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1554826698 CA375634086 |
2034 | W>G | No |
ClinGen Ensembl |
|
|
CA5340018 rs542300217 |
2036 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780257585 CA5340015 |
2040 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA201637596 rs958633726 |
2042 | D>G | No |
ClinGen TOPMed |
|
|
rs544856644 RCV000242723 CA5340011 |
2044 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000489510 rs1085307562 CA375633945 |
2044 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5340010 rs752603308 |
2045 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1374171839 CA375633913 |
2046 | V>A | No |
ClinGen TOPMed |
|
|
rs980956509 CA201637572 |
2046 | V>L | No |
ClinGen Ensembl |
|
|
CA375633824 rs1589054356 |
2051 | G>A | No |
ClinGen Ensembl |
|
|
rs1474607963 CA375633807 |
2053 | N>H | No |
ClinGen gnomAD |
|
|
rs1233090768 CA375633728 |
2056 | M>T | No |
ClinGen TOPMed |
|
|
rs760123789 CA5340005 |
2058 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057518096 RCV000413535 |
2059 | N>missing | No |
ClinVar dbSNP |
|
|
CA375633680 rs1454265367 |
2059 | N>D | No |
ClinGen gnomAD |
|
|
rs1294066789 CA375632326 |
2064 | P>S | No |
ClinGen gnomAD |
|
|
RCV000171429 CA236334 rs786205600 |
2067 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751048658 CA5339966 |
2070 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375632258 rs1432074829 |
2070 | R>W | No |
ClinGen gnomAD |
|
|
CA375632201 rs764551640 |
2074 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186927156 CA375632182 |
2078 | K>E | No |
ClinGen gnomAD |
|
|
CA236332 RCV000171428 rs786205599 |
2085 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375632132 rs1215496202 |
2085 | A>V | No |
ClinGen gnomAD |
|
|
rs201058656 CA5339959 |
2086 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768543030 CA375632122 |
2087 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768543030 CA5339956 |
2087 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000733892 rs373806373 CA5339957 |
2087 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749262096 CA5339955 |
2089 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215473021 CA375632101 |
2090 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA375632083 rs1443765328 |
2093 | M>V | No |
ClinGen gnomAD |
|
|
rs780873661 RCV000494409 CA5339951 |
2095 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756874994 CA375632064 RCV001756010 RCV000621219 |
2095 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5339945 rs765618237 |
2098 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5339942 rs766745955 |
2099 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773483690 CA375632036 |
2100 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543533126 CA5339941 |
2100 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993857521 CA201634282 |
2102 | Q>L | No |
ClinGen Ensembl |
|
|
rs1253251665 CA375632020 |
2103 | E>* | No |
ClinGen gnomAD |
|
|
CA375632014 rs1307220376 |
2104 | R>C | No |
ClinGen gnomAD |
|
|
CA375632005 rs373091110 |
2105 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5339937 rs373091110 |
2105 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369665514 CA5339936 |
2106 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375631991 rs1302031768 |
2107 | H>R | No |
ClinGen gnomAD |
|
|
CA5339934 rs780963597 |
2108 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs894965666 CA201634245 |
2110 | V>M | No |
ClinGen TOPMed |
|
|
rs1257768093 CA375631959 |
2112 | L>V | No |
ClinGen TOPMed |
|
|
rs746682300 CA375631943 |
2114 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339931 rs777219891 |
2115 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757953736 CA5339930 |
2115 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5339929 rs752097115 |
2116 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755509796 CA5339927 |
2117 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs765820020 CA5339928 |
2117 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631928 rs1394353648 |
2117 | N>Y | No |
ClinGen gnomAD |
|
|
CA5339926 rs375969725 RCV000429779 |
2120 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
rs766836819 CA5339925 |
2120 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631911 rs766836819 |
2120 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61751533 CA375631903 |
2121 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767587816 CA375631898 |
2122 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231728811 CA375631893 |
2123 | Q>R | No |
ClinGen gnomAD |
|
|
CA5339919 rs369009290 |
2125 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776496915 CA5339917 |
2126 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339916 rs770713134 |
2128 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374634055 CA375631858 |
2129 | L>Q | No |
ClinGen gnomAD |
|
|
CA201634154 rs915267438 |
2130 | G>R | No |
ClinGen gnomAD |
|
|
CA5339914 rs777501680 |
2132 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339911 rs61733294 |
2133 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA375631833 rs1249825304 |
2134 | T>I | No |
ClinGen gnomAD |
|
|
rs754410213 CA5339909 |
2136 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA375631818 rs1564568642 |
2137 | P>L | No |
ClinGen Ensembl |
|
|
RCV000468297 rs372698234 RCV000121696 RCV000618496 CA161219 |
2137 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756571156 CA375631812 |
2138 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631814 rs1487162645 |
2138 | P>S | No |
ClinGen gnomAD |
|
|
CA375631800 rs1326497239 |
2140 | C>F | No |
ClinGen gnomAD |
|
|
CA5339904 rs764176079 |
2142 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1085307778 RCV000489747 CA375631762 |
2143 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776577038 CA375631752 |
2144 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339901 rs776577038 |
2144 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339900 rs770803054 |
2145 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs760564367 CA5339899 |
2147 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631706 rs1564568603 |
2148 | S>I | No |
ClinGen Ensembl |
|
|
rs1409851158 CA375631678 |
2150 | K>N | No |
ClinGen gnomAD |
|
|
CA375631682 rs1589053374 RCV000788243 |
2150 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs116317506 CA5339897 |
2152 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116317506 CA5339896 |
2152 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368228114 CA375631662 |
2152 | G>V | No |
ClinGen gnomAD |
|
|
rs1262995994 CA375631640 |
2154 | Q>R | No |
ClinGen gnomAD |
|
|
rs1035043614 CA375631631 |
2155 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756659419 CA5339892 |
2156 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1282189149 CA375631572 |
2160 | K>E | No |
ClinGen gnomAD |
|
|
RCV000727124 rs201518848 CA5339890 |
2161 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA375631545 rs1296693438 |
2162 | S>C | No |
ClinGen gnomAD |
|
|
CA201633944 rs35900692 |
2163 | S>I | No |
ClinGen Ensembl |
|
|
CA375631531 rs1432824285 |
2163 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs535160267 CA5339888 |
2164 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764255955 CA5339887 |
2165 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1307591119 CA375631479 |
2168 | C>R | No |
ClinGen Ensembl |
|
|
CA5339885 rs752748135 |
2169 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5339882 rs199673148 |
2172 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375631428 rs1254298379 |
2174 | K>E | No |
ClinGen gnomAD |
|
|
rs1450558564 CA375631403 |
2175 | D>E | No |
ClinGen gnomAD |
|
|
rs768351752 CA201633881 |
2177 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631372 rs1197184303 |
2178 | A>T | No |
ClinGen gnomAD |
|
|
rs587778571 CA5339877 |
2179 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs768400804 CA5339878 |
2179 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339875 rs746372139 |
2181 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631279 rs1437234014 |
2186 | G>S | No |
ClinGen gnomAD |
|
|
rs757589247 CA5339873 |
2186 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631246 rs1321766637 |
2188 | G>D | No |
ClinGen gnomAD |
|
|
rs1346987070 CA375631253 |
2188 | G>R | No |
ClinGen TOPMed |
|
|
CA375631244 rs1321766637 |
2188 | G>V | No |
ClinGen gnomAD |
|
|
rs775585772 CA201633824 |
2191 | L>P | No |
ClinGen Ensembl |
|
|
rs1174848058 CA375631209 |
2192 | D>N | No |
ClinGen gnomAD |
|
|
rs1315402658 CA375631189 |
2193 | S>N | No |
ClinGen TOPMed |
|
|
rs376422513 CA375631171 |
2195 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755029006 CA5339867 |
2195 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375631152 rs1589053221 |
2196 | M>I | No |
ClinGen Ensembl |
|
|
CA375631127 RCV000489297 rs761562076 |
2198 | S>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA201633786 rs988164569 |
2199 | P>S | No |
ClinGen Ensembl |
|
|
rs1462371500 CA375631118 |
2200 | V>M | No |
ClinGen TOPMed |
|
|
rs1444594556 CA375631049 |
2208 | G>D | No |
ClinGen gnomAD |
|
|
rs1351388102 CA375631023 |
2210 | L>Q | No |
ClinGen gnomAD |
|
|
CA375631016 rs1307681336 |
2211 | S>P | No |
ClinGen gnomAD |
|
|
rs376241938 CA5339859 |
2213 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375630972 rs1414457607 |
2214 | A>G | No |
ClinGen gnomAD |
|
|
CA375630958 rs1401419952 |
2215 | S>L | No |
ClinGen TOPMed |
|
|
rs771450276 CA5339856 |
2216 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339857 rs777031585 |
2216 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445922406 CA375630941 |
2217 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5339854 rs778109032 |
2220 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5339851 rs779125725 |
2222 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375630812 rs767393831 |
2225 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339848 rs767393831 |
2225 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339846 rs751456570 |
2227 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375630767 rs751456570 |
2227 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339847 rs757213098 |
2227 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA375630680 rs1303858717 |
2232 | N>S | No |
ClinGen gnomAD |
|
|
CA5339841 rs759021557 |
2234 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033593566 CA201633681 |
2235 | P>S | No |
ClinGen TOPMed |
|
|
rs1457252057 CA375630619 |
2236 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776178941 CA5339840 |
2237 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5339838 rs747504082 |
2239 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375630518 rs1589053106 |
2240 | T>A | No |
ClinGen Ensembl |
|
|
rs1181114207 CA375630506 |
2240 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5339836 rs772431674 |
2241 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201633658 rs1023733530 |
2242 | L>Q | No |
ClinGen TOPMed |
|
|
CA5339834 rs768891798 |
2246 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5339833 rs377165086 |
2247 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372771288 CA375630423 |
2248 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554826464 CA375630429 RCV000619010 |
2248 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375630407 rs1436539393 |
2250 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375630411 rs1436539393 |
2250 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5339829 rs777809068 |
2250 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375630396 rs1462671080 |
2251 | A>T | No |
ClinGen gnomAD |
|
|
CA201633535 rs747259468 |
2255 | M>L | No |
ClinGen Ensembl |
|
|
rs1200214053 CA375630337 |
2256 | A>T | No |
ClinGen TOPMed |
|
|
rs759225800 CA5339825 |
2256 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339824 rs377112509 |
2257 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA201633509 rs587778572 |
2257 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA161231 RCV000121702 rs587778572 |
2257 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5339823 rs377112509 |
2257 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772519230 CA5339821 |
2258 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA375630294 rs1405100445 |
2260 | G>R | No |
ClinGen TOPMed |
|
|
rs768817065 CA5339819 |
2261 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA375630282 rs914963993 |
2261 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA201633454 rs914963993 |
2261 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375630278 rs1340552523 |
2262 | G>D | No |
ClinGen TOPMed |
|
|
rs770022692 CA5339816 |
2263 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA375630266 rs777902922 |
2265 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777902922 CA5339815 |
2265 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375630254 rs1426173633 |
2267 | E>Q | No |
ClinGen gnomAD |
|
|
rs1362214700 CA375630244 |
2268 | T>S | No |
ClinGen TOPMed |
|
|
CA375630223 rs1223321022 |
2271 | P>L | No |
ClinGen TOPMed |
|
|
rs972658026 CA201633416 RCV000489575 |
2272 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1190825232 CA375630126 |
2280 | S>F | No |
ClinGen gnomAD |
|
|
rs760200087 CA5339808 |
2283 | S>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000619546 CA375630087 rs1341934554 |
2284 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5339807 rs749903750 |
2284 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA375630084 rs1341934554 |
2284 | T>S | No |
ClinGen gnomAD |
|
|
CA201633361 rs916561985 |
2286 | L>Q | No |
ClinGen TOPMed |
|
|
rs1162402352 CA375630056 |
2287 | G>D | No |
ClinGen TOPMed |
|
|
rs1401911557 CA375630038 |
2289 | S>G | No |
ClinGen TOPMed |
|
|
rs1131691923 RCV000494579 CA375630029 |
2289 | S>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs763183789 CA5339803 |
2290 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5339801 rs367721906 |
2291 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375629999 rs1295769772 |
2292 | G>E | No |
ClinGen TOPMed |
|
|
rs1175514266 CA375629979 |
2294 | L>P | No |
ClinGen gnomAD |
|
|
CA375629967 rs567455787 |
2295 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1414411041 CA375629964 |
2295 | N>K | No |
ClinGen gnomAD |
|
|
CA5339797 rs567455787 |
2295 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5339795 rs754834125 |
2296 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1183164396 CA375629962 |
2296 | F>L | No |
ClinGen gnomAD |
|
|
CA5339796 rs778651109 |
2296 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA5339794 rs748988550 |
2297 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1330611000 CA375629915 |
2300 | G>V | No |
ClinGen gnomAD |
|
|
CA375629899 rs1227464582 |
2302 | T>A | No |
ClinGen gnomAD |
|
|
rs555602355 CA201633201 |
2303 | S>G | No |
ClinGen gnomAD |
|
|
CA5339791 rs767026249 |
2304 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs749993527 CA5339792 |
2304 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375629854 rs1223420495 |
2305 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1401352539 CA375629858 |
2305 | N>S | No |
ClinGen gnomAD |
|
|
rs1301045089 CA375629823 |
2306 | G>V | No |
ClinGen gnomAD |
|
|
CA375629790 rs1464546401 |
2308 | C>R | No |
ClinGen gnomAD |
|
|
CA201633194 rs756653663 |
2308 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339789 rs752136178 |
2309 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375629753 rs1472425155 |
2310 | W>R | No |
ClinGen gnomAD |
|
|
rs1410174290 CA375629727 |
2311 | L>P | No |
ClinGen gnomAD |
|
|
CA375629717 rs1589052854 |
2312 | S>A | No |
ClinGen Ensembl |
|
|
rs374453977 CA5339788 |
2313 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200929799 CA5339786 |
2314 | L>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs776938186 CA5339783 |
2316 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339780 rs774370334 |
2320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455261242 CA375629531 |
2321 | N>H | No |
ClinGen TOPMed |
|
|
CA375629526 rs537272134 |
2321 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779811889 CA5339777 |
2323 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA375629483 rs1456893056 |
2325 | P>L | No |
ClinGen gnomAD |
|
|
rs745523823 CA5339775 |
2325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1451926227 CA375629439 RCV000621853 |
2328 | G>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA375629434 rs1451926227 |
2328 | G>V | No |
ClinGen gnomAD |
|
|
rs772040833 CA201633079 |
2329 | S>C | No |
ClinGen Ensembl |
|
|
CA375629415 rs1589052793 |
2329 | S>R | No |
ClinGen Ensembl |
|
|
CA375629400 rs1248086563 |
2330 | V>G | No |
ClinGen gnomAD |
|
|
rs765713070 CA5339770 |
2331 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1291495851 CA375629383 |
2332 | P>S | No |
ClinGen gnomAD |
|
|
rs370135470 CA5339768 |
2334 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370135470 CA375629343 |
2334 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759916787 CA5339769 |
2334 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363351087 CA375629317 |
2336 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs773134608 CA5339765 |
2339 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339766 rs773134608 |
2339 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254082910 CA375629246 |
2340 | P>L | No |
ClinGen TOPMed |
|
|
rs768695849 CA5339764 |
2343 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000620130 rs1325758824 RCV001591391 CA375629170 |
2345 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1471422073 CA375629158 |
2346 | M>V | No |
ClinGen TOPMed |
|
|
CA375629125 rs1387630219 |
2347 | V>A | No |
ClinGen gnomAD |
|
|
CA375629123 rs1387630219 |
2347 | V>G | No |
ClinGen gnomAD |
|
|
rs1390427898 CA375629104 |
2349 | P>A | No |
ClinGen gnomAD |
|
|
CA5339763 rs540165156 |
2349 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377422325 CA201633043 |
2351 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA375629057 rs1391286538 |
2352 | S>G | No |
ClinGen gnomAD |
|
|
rs779423265 CA201633039 |
2356 | A>V | No |
ClinGen gnomAD |
|
|
rs780869345 CA5339759 |
2358 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs770454358 CA5339758 |
2358 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206968320 CA375628942 |
2359 | L>P | No |
ClinGen gnomAD |
|
|
rs970639283 CA201633016 |
2362 | M>I | No |
ClinGen gnomAD |
|
|
rs369842609 CA5339756 |
2363 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369842609 CA5339755 |
2363 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201045092 CA5339754 |
2364 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs988059037 CA201632999 |
2367 | G>S | No |
ClinGen gnomAD |
|
|
rs1330696699 CA375628834 |
2367 | G>V | No |
ClinGen gnomAD |
|
|
rs1285498903 CA375628785 |
2370 | S>N | No |
ClinGen TOPMed |
|
|
rs755417102 CA5339752 |
2371 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755417102 CA375628764 |
2371 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA201632982 rs373119531 |
2372 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5339751 rs754234580 |
2372 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339749 rs760793359 |
2374 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5339748 rs750601168 |
2375 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1375530239 CA375628028 |
2375 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs369935287 CA201632955 |
2376 | Q>H | No |
ClinGen ESP gnomAD |
|
|
CA5339747 rs767497870 |
2376 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249693862 CA375627997 |
2378 | H>Y | No |
ClinGen TOPMed |
|
|
CA5339744 RCV000591716 rs769693988 |
2380 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA375627958 rs1201072314 |
2381 | Q>H | No |
ClinGen gnomAD |
|
|
CA5339743 rs759362012 |
2383 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1281553206 CA375627943 |
2383 | Q>R | No |
ClinGen gnomAD |
|
|
rs375119074 CA5339742 RCV000243144 |
2384 | Q>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA375627905 rs1440614235 |
2386 | Q>* | No |
ClinGen gnomAD |
|
|
CA5339740 rs746658493 |
2386 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403281220 CA375627879 |
2388 | Q>* | No |
ClinGen gnomAD |
|
|
rs192619687 CA5339737 |
2391 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169052272 CA375627834 |
2391 | Q>L | No |
ClinGen TOPMed |
|
|
rs1036612594 CA201632907 RCV000520989 |
2392 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs779613930 CA201632880 |
2393 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5339736 rs779613930 |
2393 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs546600292 CA5339734 |
2399 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA375627702 rs1441901687 |
2401 | N>D | No |
ClinGen gnomAD |
|
|
rs1210784407 CA375627682 |
2402 | I>T | No |
ClinGen gnomAD |
|
|
rs1330134407 CA375627670 |
2403 | Q>R | No |
ClinGen gnomAD |
|
|
CA375627658 RCV000578841 rs1554826400 |
2404 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375627654 rs1222385004 |
2404 | Q>R | No |
ClinGen gnomAD |
|
|
CA201632855 rs937736862 |
2405 | Q>* | No |
ClinGen Ensembl |
|
|
CA375627612 rs1381801448 |
2408 | L>M | No |
ClinGen gnomAD |
|
|
rs1379904495 CA375627599 |
2410 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1379904495 CA375627598 |
2410 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375627588 rs1169641185 |
2411 | P>L | No |
ClinGen Ensembl |
|
|
CA201632805 rs375679294 |
2413 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1340144781 CA375627564 |
2414 | P>L | No |
ClinGen gnomAD |
|
|
CA375627536 rs1564567815 |
2416 | Q>* | No |
ClinGen Ensembl |
|
|
CA5339713 rs370652630 |
2417 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5339714 rs370652630 |
2417 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1442744764 CA375627506 |
2417 | P>S | No |
ClinGen gnomAD |
|
|
rs957959974 CA375627476 |
2418 | H>Q | No |
ClinGen Ensembl |
|
|
rs957959974 CA201632742 |
2418 | H>Q | No |
ClinGen Ensembl |
|
|
rs746218012 CA5339710 |
2419 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs373874935 CA5339709 |
2421 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs953452913 CA201632704 |
2424 | A>V | No |
ClinGen TOPMed |
|
|
CA375627339 rs1364332299 |
2425 | A>T | No |
ClinGen TOPMed |
|
|
CA201632701 rs1030823951 |
2426 | S>G | No |
ClinGen Ensembl |
|
|
CA375627311 rs1323864127 |
2426 | S>N | No |
ClinGen gnomAD |
|
|
rs370722609 CA201632695 |
2427 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375627273 rs1362972799 |
2428 | H>R | No |
ClinGen TOPMed |
|
|
rs753752321 CA5339704 |
2431 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375627193 rs1286746812 |
2432 | S>T | No |
ClinGen gnomAD |
|
|
rs201493851 CA5339703 |
2433 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146855201 CA5339701 |
2435 | S>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs1391673708 CA375627117 |
2436 | G>E | No |
ClinGen gnomAD |
|
|
CA375627078 rs1163865960 |
2438 | P>S | No |
ClinGen gnomAD |
|
|
rs942055234 CA201632645 |
2439 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1131691402 CA375627049 RCV000493397 |
2439 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375626956 rs1418965547 |
2443 | V>G | No |
ClinGen gnomAD |
|
|
CA201632621 rs768311067 |
2443 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768311067 CA5339697 |
2443 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564567692 CA375626898 |
2445 | P>L | No |
ClinGen Ensembl |
|
|
CA5339696 rs748783098 |
2445 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775910009 CA5339695 |
2446 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1222163480 CA375626870 |
2447 | G>D | No |
ClinGen gnomAD |
|
|
rs746280413 CA5339693 |
2452 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339691 rs574436740 |
2453 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375626733 rs536167222 |
2455 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339687 rs752802795 |
2458 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375626688 rs1292613938 |
2459 | Q>* | No |
ClinGen gnomAD |
|
|
CA201632522 rs555446456 |
2459 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750245108 CA5339685 |
2461 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs750245108 CA5339684 |
2461 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5339683 rs767435492 |
2462 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537210445 CA5339681 |
2463 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1168359363 CA375626575 |
2463 | A>V | No |
ClinGen gnomAD |
|
|
CA375626480 rs1480618339 |
2469 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771318379 CA5339675 |
2471 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375626439 rs771318379 |
2471 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375626404 rs1358523874 |
2473 | V>I | No |
ClinGen TOPMed |
|
|
CA201632450 rs868629134 |
2474 | P>S | No |
ClinGen TOPMed |
|
|
CA375626389 rs868629134 |
2474 | P>T | No |
ClinGen TOPMed |
|
|
CA201632444 rs763785541 |
2476 | V>M | No |
ClinGen gnomAD |
|
|
CA375626330 rs1373474592 |
2477 | T>I | No |
ClinGen TOPMed |
|
|
CA5339670 rs779039862 |
2478 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375626297 rs1304519693 |
2479 | A>V | No |
ClinGen gnomAD |
|
|
CA375626291 rs1554826355 RCV000619537 |
2480 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375626278 rs1325236724 |
2481 | F>L | No |
ClinGen TOPMed |
|
|
rs1183279486 CA375626192 |
2486 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1208693439 CA375626159 |
2488 | H>R | No |
ClinGen TOPMed |
|
|
CA375626140 rs1235081189 |
2490 | Y>C | No |
ClinGen TOPMed |
|
|
CA375626133 rs757165853 |
2491 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757165853 CA5339665 |
2491 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5339664 rs751367016 |
2492 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA201632350 rs1034600983 |
2493 | P>L | No |
ClinGen gnomAD |
|
|
rs1237976240 CA375626111 |
2495 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1564567522 CA375626115 |
2495 | D>N | No |
ClinGen Ensembl |
|
|
CA375626105 rs1333782148 |
2496 | N>H | No |
ClinGen gnomAD |
|
|
CA375626084 rs1314758970 |
2499 | S>N | No |
ClinGen gnomAD |
|
|
CA375626053 rs1589052402 |
2503 | Q>H | No |
ClinGen Ensembl |
|
|
rs1401154969 CA375626042 |
2505 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375625994 rs1160184715 |
2512 | P>L | No |
ClinGen gnomAD |
|
|
rs868747222 CA201632308 |
2516 | S>Y | No |
ClinGen Ensembl |
|
|
rs771410115 CA375625953 RCV000592293 |
2518 | D>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1405124840 CA375625926 |
2522 | S>N | No |
ClinGen TOPMed |
|
|
rs1554826328 RCV001770555 RCV000618078 CA375625916 |
2523 | S>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs567323027 CA201632293 |
2525 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1204244687 CA375625886 |
2528 | N>S | No |
ClinGen gnomAD |
|
|
CA5339649 rs749355748 |
2531 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383219266 CA375625797 |
2542 | S>G | No |
ClinGen gnomAD |
|
|
rs752428699 CA5339643 |
2543 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5339644 rs752428699 |
2543 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5339641 rs754570072 |
2544 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5339642 rs764749582 |
2544 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375625711 rs1390325834 |
2548 | A>V | No |
ClinGen gnomAD |
|
|
RCV000121698 CA161223 rs200893930 RCV000620440 |
2549 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767929506 CA5339637 |
2549 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs774680812 CA5339636 |
2551 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289429344 CA375625665 |
2552 | E>K | No |
ClinGen gnomAD |
|
|
CA201632203 rs182522714 |
2553 | A>S | No |
ClinGen 1000Genomes |
2 associated diseases with P46531
[MIM: 109730]: Aortic valve disease 1 (AOVD1)
A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. {ECO:0000269|PubMed:16025100}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616028]: Adams-Oliver syndrome 5 (AOS5)
A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269|PubMed:25132448}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. {ECO:0000269|PubMed:16025100}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269|PubMed:25132448}. Note=The disease is caused by variants affecting the gene represented in this entry.
108 regional properties for P46531
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| ptm | EGF-type aspartate/asparagine hydroxylation site | 195 - 206 | IPR000152-1 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 272 - 283 | IPR000152-2 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 312 - 323 | IPR000152-3 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 350 - 361 | IPR000152-4 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 429 - 440 | IPR000152-5 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 467 - 478 | IPR000152-6 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 505 - 516 | IPR000152-7 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 543 - 554 | IPR000152-8 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 580 - 591 | IPR000152-9 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 618 - 629 | IPR000152-10 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 655 - 666 | IPR000152-11 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 693 - 704 | IPR000152-12 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 730 - 741 | IPR000152-13 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 768 - 779 | IPR000152-14 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 806 - 817 | IPR000152-15 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 884 - 895 | IPR000152-16 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 960 - 971 | IPR000152-17 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 998 - 1009 | IPR000152-18 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1036 - 1047 | IPR000152-19 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1160 - 1171 | IPR000152-20 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1198 - 1209 | IPR000152-21 |
| ptm | EGF-type aspartate/asparagine hydroxylation site | 1244 - 1255 | IPR000152-22 |
| domain | EGF-like domain | 20 - 58 | IPR000742-1 |
| domain | EGF-like domain | 59 - 99 | IPR000742-2 |
| domain | EGF-like domain | 102 - 139 | IPR000742-3 |
| domain | EGF-like domain | 140 - 176 | IPR000742-4 |
| domain | EGF-like domain | 178 - 216 | IPR000742-5 |
| domain | EGF-like domain | 218 - 255 | IPR000742-6 |
| domain | EGF-like domain | 257 - 293 | IPR000742-7 |
| domain | EGF-like domain | 295 - 333 | IPR000742-8 |
| domain | EGF-like domain | 335 - 371 | IPR000742-9 |
| domain | EGF-like domain | 372 - 410 | IPR000742-10 |
| domain | EGF-like domain | 412 - 450 | IPR000742-11 |
| domain | EGF-like domain | 452 - 488 | IPR000742-12 |
| domain | EGF-like domain | 490 - 526 | IPR000742-13 |
| domain | EGF-like domain | 528 - 564 | IPR000742-14 |
| domain | EGF-like domain | 566 - 601 | IPR000742-15 |
| domain | EGF-like domain | 603 - 639 | IPR000742-16 |
| domain | EGF-like domain | 641 - 676 | IPR000742-17 |
| domain | EGF-like domain | 678 - 714 | IPR000742-18 |
| domain | EGF-like domain | 716 - 751 | IPR000742-19 |
| domain | EGF-like domain | 753 - 789 | IPR000742-20 |
| domain | EGF-like domain | 791 - 827 | IPR000742-21 |
| domain | EGF-like domain | 829 - 867 | IPR000742-22 |
| domain | EGF-like domain | 869 - 905 | IPR000742-23 |
| domain | EGF-like domain | 907 - 943 | IPR000742-24 |
| domain | EGF-like domain | 945 - 981 | IPR000742-25 |
| domain | EGF-like domain | 983 - 1019 | IPR000742-26 |
| domain | EGF-like domain | 1021 - 1057 | IPR000742-27 |
| domain | EGF-like domain | 1059 - 1095 | IPR000742-28 |
| domain | EGF-like domain | 1100 - 1143 | IPR000742-29 |
| domain | EGF-like domain | 1145 - 1181 | IPR000742-30 |
| domain | EGF-like domain | 1183 - 1219 | IPR000742-31 |
| domain | EGF-like domain | 1224 - 1265 | IPR000742-32 |
| domain | EGF-like domain | 1267 - 1305 | IPR000742-33 |
| domain | EGF-like domain | 1307 - 1346 | IPR000742-34 |
| domain | EGF-like domain | 1348 - 1384 | IPR000742-35 |
| domain | EGF-like domain | 1387 - 1426 | IPR000742-36 |
| domain | Notch domain | 1442 - 1571 | IPR000800 |
| domain | EGF-like calcium-binding domain | 59 - 99 | IPR001881-1 |
| domain | EGF-like calcium-binding domain | 104 - 139 | IPR001881-2 |
| domain | EGF-like calcium-binding domain | 140 - 176 | IPR001881-3 |
| domain | EGF-like calcium-binding domain | 178 - 216 | IPR001881-4 |
| domain | EGF-like calcium-binding domain | 222 - 255 | IPR001881-5 |
| domain | EGF-like calcium-binding domain | 257 - 293 | IPR001881-6 |
| domain | EGF-like calcium-binding domain | 295 - 333 | IPR001881-7 |
| domain | EGF-like calcium-binding domain | 335 - 371 | IPR001881-8 |
| domain | EGF-like calcium-binding domain | 412 - 450 | IPR001881-9 |
| domain | EGF-like calcium-binding domain | 452 - 488 | IPR001881-10 |
| domain | EGF-like calcium-binding domain | 490 - 526 | IPR001881-11 |
| domain | EGF-like calcium-binding domain | 528 - 564 | IPR001881-12 |
| domain | EGF-like calcium-binding domain | 566 - 601 | IPR001881-13 |
| domain | EGF-like calcium-binding domain | 603 - 639 | IPR001881-14 |
| domain | EGF-like calcium-binding domain | 641 - 676 | IPR001881-15 |
| domain | EGF-like calcium-binding domain | 678 - 714 | IPR001881-16 |
| domain | EGF-like calcium-binding domain | 716 - 751 | IPR001881-17 |
| domain | EGF-like calcium-binding domain | 753 - 789 | IPR001881-18 |
| domain | EGF-like calcium-binding domain | 791 - 827 | IPR001881-19 |
| domain | EGF-like calcium-binding domain | 833 - 867 | IPR001881-20 |
| domain | EGF-like calcium-binding domain | 869 - 905 | IPR001881-21 |
| domain | EGF-like calcium-binding domain | 907 - 943 | IPR001881-22 |
| domain | EGF-like calcium-binding domain | 945 - 981 | IPR001881-23 |
| domain | EGF-like calcium-binding domain | 983 - 1019 | IPR001881-24 |
| domain | EGF-like calcium-binding domain | 1021 - 1057 | IPR001881-25 |
| domain | EGF-like calcium-binding domain | 1063 - 1095 | IPR001881-26 |
| domain | EGF-like calcium-binding domain | 1101 - 1143 | IPR001881-27 |
| domain | EGF-like calcium-binding domain | 1146 - 1181 | IPR001881-28 |
| domain | EGF-like calcium-binding domain | 1183 - 1219 | IPR001881-29 |
| domain | EGF-like calcium-binding domain | 1221 - 1265 | IPR001881-30 |
| domain | EGF-like calcium-binding domain | 1267 - 1305 | IPR001881-31 |
| domain | EGF-like calcium-binding domain | 1308 - 1346 | IPR001881-32 |
| domain | EGF-like calcium-binding domain | 1348 - 1384 | IPR001881-33 |
| repeat | Ankyrin repeat | 1880 - 1922 | IPR002110-1 |
| repeat | Ankyrin repeat | 1919 - 1990 | IPR002110-2 |
| repeat | Ankyrin repeat | 1994 - 2092 | IPR002110-3 |
| domain | Notch, NOD domain | 1566 - 1622 | IPR010660 |
| domain | Notch, NODP domain | 1670 - 1732 | IPR011656 |
| conserved_site | EGF-like, conserved site | 992 - 1013 | IPR013032-1 |
| conserved_site | EGF-like, conserved site | 1357 - 1375 | IPR013032-2 |
| conserved_site | EGF-like calcium-binding, conserved site | 257 - 281 | IPR018097-1 |
| conserved_site | EGF-like calcium-binding, conserved site | 295 - 321 | IPR018097-2 |
| conserved_site | EGF-like calcium-binding, conserved site | 452 - 476 | IPR018097-3 |
| conserved_site | EGF-like calcium-binding, conserved site | 528 - 552 | IPR018097-4 |
| conserved_site | EGF-like calcium-binding, conserved site | 678 - 702 | IPR018097-5 |
| conserved_site | EGF-like calcium-binding, conserved site | 869 - 893 | IPR018097-6 |
| conserved_site | EGF-like calcium-binding, conserved site | 1021 - 1045 | IPR018097-7 |
| conserved_site | EGF-like calcium-binding, conserved site | 1221 - 1253 | IPR018097-8 |
| domain | Notch, C-terminal | 2478 - 2541 | IPR024600 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24044 | NOTCH LIGAND FAMILY MEMBER |
| PANTHER Subfamily | PTHR24044:SF514 | ANTERIOR PHARYNX IN EXCESS PROTEIN 1-RELATED |
| PANTHER Protein Class | intercellular signal molecule | |
| PANTHER Pathway Category | No pathway information available | |
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of 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. |
| MAML1-RBP-Jkappa- ICN1 complex | A protein complex that consists of the intracellular domain of Notch1 (ICN1), the DNA-binding transcription factor RBP-Jkappa, and the transcriptional coactivator Mastermind-like-1 (MAML1); the complex is involved in transcriptional activation in response to Notch-mediated signaling. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| enzyme inhibitor activity | Binds to and stops, prevents or reduces the activity of an enzyme. |
| identical protein binding | Binding to an identical protein or proteins. |
| Notch binding | Binding to a Notch (N) protein, a surface receptor. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
148 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ regeneration | The regrowth of a lost or destroyed animal organ. |
| aortic valve morphogenesis | The process in which the structure of the aortic valve is generated and organized. |
| apoptotic process involved in embryonic digit morphogenesis | Any apoptotic process that is involved in embryonic digit morphogenesis. |
| arterial endothelial cell differentiation | The process in which a relatively unspecialized endothelial cell acquires specialized features of an arterial endothelial cell, a thin flattened cell that lines the inside surfaces of arteries. |
| astrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an astrocyte. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function. |
| atrioventricular node development | The process whose specific outcome is the progression of the atrioventricular (AV) node over time, from its formation to the mature structure. The AV node is part of the cardiac conduction system that controls the timing of ventricle contraction by receiving electrical signals from the sinoatrial (SA) node and relaying them to the His-Purkinje system. |
| atrioventricular valve morphogenesis | The process in which the structure of the atrioventricular valve is generated and organized. |
| auditory receptor cell fate commitment | The process in which the cellular identity of auditory hair cells is acquired and determined. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| branching morphogenesis of an epithelial tube | The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. |
| cardiac atrium morphogenesis | The process in which the cardiac atrium is generated and organized. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle. |
| cardiac chamber formation | The developmental process pertaining to the initial formation of a cardiac chamber from unspecified parts. A cardiac chamber is an enclosed cavity within the heart. |
| cardiac epithelial to mesenchymal transition | A transition where a cardiac epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| cardiac left ventricle morphogenesis | The process in which the left cardiac ventricle is generated and organized. |
| cardiac muscle cell proliferation | The expansion of a cardiac muscle cell population by cell division. |
| cardiac muscle tissue morphogenesis | The process in which the anatomical structures of cardiac muscle tissue are generated and organized. |
| cardiac right atrium morphogenesis | The process in which the right cardiac atrium is generated and organized. |
| cardiac right ventricle formation | The developmental process pertaining to the initial formation of a right cardiac ventricle from unspecified parts. |
| cardiac septum morphogenesis | The process in which the anatomical structure of a cardiac septum is generated and organized. A cardiac septum is a partition that separates parts of the heart. |
| cardiac vascular smooth muscle cell development | The process whose specific outcome is the progression of a cardiac vascular smooth muscle cell over time, from its formation to the mature state. |
| cardiac ventricle morphogenesis | The process in which the cardiac ventricle is generated and organized. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. |
| cell differentiation in spinal cord | The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells of the spinal cord. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| cell fate specification | The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment. |
| cell migration involved in endocardial cushion formation | The orderly movement of a cell from one site to another that will contribute to the formation of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. |
| cellular response to follicle-stimulating hormone stimulus | 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 follicle-stimulating hormone stimulus. |
| cellular response to tumor cell | 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 stimulus from a tumor cell. |
| cellular response to vascular endothelial growth factor stimulus | 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 vascular endothelial growth factor stimulus. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| collecting duct development | The process whose specific outcome is the progression of a collecting duct over time, from its formation to the mature structure. The collecting duct responds to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance. It is the final common path through which urine flows before entering the ureter and then emptying into the bladder. |
| compartment pattern specification | The regionalization process in which embryonic segments are divided into compartments that will result in differences in cell differentiation. |
| coronary artery morphogenesis | The process in which the anatomical structures of coronary arteries are generated and organized. Coronary arteries are blood vessels that transport blood to the heart muscle. |
| coronary sinus valve morphogenesis | The process in which the structure of the coronary sinus valve is generated and organized. |
| coronary vein morphogenesis | The process in which the anatomical structures of veins of the heart are generated and organized. |
| determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
| distal tubule development | The process whose specific outcome is the progression of the distal tubule over time, from its formation to the mature structure. In mammals, the distal tubule is a nephron tubule that begins at the macula densa and extends to the connecting tubule. |
| embryonic hindlimb morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the hindlimbs are generated and organized. The hindlimbs are the posterior limbs of an animal. |
| endocardial cell differentiation | The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of an endocardial cell. An endocardial cell is a specialized endothelial cell that makes up the endocardium portion of the heart. The endocardium is the innermost layer of tissue of the heart, and lines the heart chambers. |
| endocardial cushion morphogenesis | The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. |
| endocardium development | The process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. |
| endocardium morphogenesis | The process in which the anatomical structure of the endocardium is generated and organized. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. |
| endoderm development | The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. |
| epithelial to mesenchymal transition | A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| epithelial to mesenchymal transition involved in endocardial cushion formation | A transition where a cardiac epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell that will contribute to the formation of the endocardial cushion. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| foregut morphogenesis | The process in which the anatomical structures of the foregut are generated and organized. |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
| glomerular mesangial cell development | The process whose specific outcome is the progression of a glomerular mesangial cell in the kidney over time, from its formation to the mature structure. |
| growth involved in heart morphogenesis | Developmental growth that contributes to the shaping of the heart. |
| hair follicle morphogenesis | The process in which the anatomical structures of the hair follicle are generated and organized. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| heart looping | The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation. |
| heart trabecula morphogenesis | The process of shaping a trabecula in the heart. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue. |
| homeostasis of number of cells within a tissue | Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. |
| humoral immune response | An immune response mediated through a body fluid. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| inflammatory response to antigenic stimulus | An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. |
| interleukin-17-mediated signaling pathway | The series of molecular signals initiated by interleukin-17 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| keratinocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. |
| left/right axis specification | The establishment, maintenance and elaboration of the left/right axis. The left/right axis is defined by a line that runs orthogonal to both the anterior/posterior and dorsal/ventral axes. Each side is defined from the viewpoint of the organism rather of the observer (as per anatomical axes). |
| liver development | The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| mesenchymal cell development | The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. |
| mitral valve formation | The developmental process pertaining to the initial formation of the mitral valve from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. |
| negative regulation of anoikis | Any process that stops, prevents or reduces the frequency, rate or extent of anoikis. |
| negative regulation of biomineral tissue development | Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. |
| negative regulation of BMP signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway. |
| negative regulation of calcium ion-dependent exocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of calcium ion-dependent exocytosis. |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| negative regulation of cardiac muscle hypertrophy | Any process that decreases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. |
| negative regulation of catalytic activity | Any process that stops or reduces the activity of an enzyme. |
| negative regulation of cell adhesion molecule production | Any process that decreases the rate, frequency or extent of cell adhesion molecule production. Cell adhesion molecule production is the appearance of a cell adhesion molecule as a result of its biosynthesis or a decrease in its catabolism. |
| negative regulation of cell migration involved in sprouting angiogenesis | Any process that decreases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cell proliferation involved in heart valve morphogenesis | Any process that decreases the rate, frequency or extent of cell proliferation that contributes to the shaping of a heart valve. |
| negative regulation of cell-cell adhesion mediated by cadherin | Any process that stops, prevents, or reduces the frequency, rate or extent of cell-cell adhesion mediated by cadherin. |
| negative regulation of cell-substrate adhesion | Any process that decreases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| negative regulation of endothelial cell chemotaxis | Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell chemotaxis. |
| negative regulation of extracellular matrix constituent secretion | Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of glial cell proliferation | Any process that stops or decreases the rate or extent of glial cell proliferation. |
| negative regulation of inner ear auditory receptor cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of auditory hair cell differentiation. |
| negative regulation of myoblast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| negative regulation of myotube differentiation | Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. |
| negative regulation of neurogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. |
| negative regulation of oligodendrocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation. |
| negative regulation of ossification | Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| negative regulation of osteoblast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. |
| negative regulation of photoreceptor cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. |
| negative regulation of pro-B cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of pro-B cell differentiation. |
| negative regulation of stem cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of transcription, DNA-templated | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| neural tube development | The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. |
| neuronal stem cell population maintenance | Any process in by an organism or tissue maintains a population of neuronal stem cells. |
| Notch signaling involved in heart development | The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell and contributing to the progression of the heart over time. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation | The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell contributing to the modulation of the frequency, rate or extent of cardioblast proliferation in the secondary heart field. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| outflow tract morphogenesis | The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries. |
| pericardium morphogenesis | The process in which the anatomical structure of the pericardium is generated and organized. |
| positive regulation of aorta morphogenesis | Any process that activates or increases the frequency, rate or extent of aorta morphogenesis. |
| positive regulation of apoptotic process involved in morphogenesis | Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. |
| positive regulation of astrocyte differentiation | Any process that activates or increases the frequency, rate or extent of astrocyte differentiation. |
| positive regulation of BMP signaling pathway | Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity. |
| positive regulation of cardiac epithelial to mesenchymal transition | Any process that starts or increases the rate, frequency or extent of cardiac epithelial to mesenchymal transition, a transition where a cardiac epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| positive regulation of cardiac muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of endothelial cell differentiation | Any process that activates or increases the frequency, rate or extent of endothelial cell differentiation. |
| positive regulation of epithelial cell proliferation | Any process that activates or increases the rate or extent of epithelial cell proliferation. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of keratinocyte differentiation | Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. |
| positive regulation of neuroblast proliferation | Any process that activates or increases the rate of neuroblast proliferation. |
| positive regulation of Notch signaling pathway | Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway. |
| positive regulation of Ras protein signal transduction | Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction. |
| positive regulation of receptor signaling pathway via JAK-STAT | Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a hypoxia stimulus. |
| positive regulation of transcription of Notch receptor target | The activation of transcription of specific genes as a result of Notch signaling, mediated by the Notch intracellular domain. |
| positive regulation of transcription, DNA-templated | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of viral genome replication | Any process that activates or increases the frequency, rate or extent of viral genome replication. |
| prostate gland epithelium morphogenesis | The process in which the anatomical structures of epithelia of the prostate gland are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| pulmonary valve morphogenesis | The process in which the structure of the pulmonary valve is generated and organized. |
| regulation of epithelial cell proliferation involved in prostate gland development | Any process that modulates the rate, frequency or extent of epithelial cell proliferation that contributes to the progression of the prostate gland over time. |
| regulation of extracellular matrix assembly | Any process that modulates the frequency, rate or extent of extracellular matrix assembly. |
| regulation of somitogenesis | Any process that modulates the frequency, rate or extent of somitogenesis. |
| regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation | OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the differentiation of a myocardial precursor cell. |
| regulation of transcription, DNA-templated | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| response to corticosteroid | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a corticosteroid hormone stimulus. A corticosteroid is a steroid hormone that is produced in the adrenal cortex. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte levels, and behavior. They include glucocorticoids and mineralocorticoids. |
| response to lipopolysaccharide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| response to muramyl dipeptide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan. |
| secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development | The process in which a relatively unspecialized epithelial cell acquires specialized features of a secretory columnal luminar epithelial cell of the prostate. |
| skeletal muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle. |
| somatic stem cell division | The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| sprouting angiogenesis | The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation. |
| T-helper 17 type immune response | An immune response which is associated with resistance to intracellular bacteria with a key role in inflammation and tissue injury. This immune response is associated with pathological autoimmune conditions such as multiple sclerosis, arthritis and psoriasis which is typically orchestrated by the production of particular cytokines by T-helper 17 cells, most notably interleukin-17, IL-21 and IL-22. |
| tissue regeneration | The regrowth of lost or destroyed tissues. |
| tube formation | Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. |
| vasculogenesis involved in coronary vascular morphogenesis | The differentiation of endothelial cells from progenitor cells that contributes to blood vessel development in the heart, and the de novo formation of blood vessels and tubes. |
| venous endothelial cell differentiation | The process in which a relatively unspecialized endothelial cell acquires specialized features of a venous endothelial cell, a thin flattened cell that lines the inside surfaces of veins. |
| ventricular septum morphogenesis | The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another. |
| ventricular trabecula myocardium morphogenesis | The process in which the anatomical structures of the trabecular cardiac ventricle muscle are generated and organized. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q868Z9 | Ppn | Papilin | Drosophila melanogaster (Fruit fly) | SS |
| P21941 | MATN1 | Cartilage matrix protein | Homo sapiens (Human) | PR |
| Q04721 | NOTCH2 | Neurogenic locus notch homolog protein 2 | Homo sapiens (Human) | EV |
| Q6GUQ1 | Egfl8 | Epidermal growth factor-like protein 8 | Mus musculus (Mouse) | PR |
| Q91V88 | Npnt | Nephronectin | Mus musculus (Mouse) | PR |
| O35516 | Notch2 | Neurogenic locus notch homolog protein 2 | Mus musculus (Mouse) | SS |
| P51942 | Matn1 | Cartilage matrix protein | Mus musculus (Mouse) | PR |
| Q01705 | Notch1 | Neurogenic locus notch homolog protein 1 | Mus musculus (Mouse) | SS |
| Q9QW30 | Notch2 | Neurogenic locus notch homolog protein 2 | Rattus norvegicus (Rat) | SS |
| Q07008 | Notch1 | Neurogenic locus notch homolog protein 1 | Rattus norvegicus (Rat) | SS |
| P13508 | glp-1 | Protein glp-1 | Caenorhabditis elegans | EV |
| A2RUV0 | notch1 | Neurogenic locus notch homolog protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| P46530 | notch1a | Neurogenic locus notch homolog protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPPLLAPLLC | LALLPALAAR | GPRCSQPGET | CLNGGKCEAA | NGTEACVCGG | AFVGPRCQDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NPCLSTPCKN | AGTCHVVDRR | GVADYACSCA | LGFSGPLCLT | PLDNACLTNP | CRNGGTCDLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLTEYKCRCP | PGWSGKSCQQ | ADPCASNPCA | NGGQCLPFEA | SYICHCPPSF | HGPTCRQDVN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ECGQKPGLCR | HGGTCHNEVG | SYRCVCRATH | TGPNCERPYV | PCSPSPCQNG | GTCRPTGDVT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HECACLPGFT | GQNCEENIDD | CPGNNCKNGG | ACVDGVNTYN | CRCPPEWTGQ | YCTEDVDECQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LMPNACQNGG | TCHNTHGGYN | CVCVNGWTGE | DCSENIDDCA | SAACFHGATC | HDRVASFYCE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CPHGRTGLLC | HLNDACISNP | CNEGSNCDTN | PVNGKAICTC | PSGYTGPACS | QDVDECSLGA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NPCEHAGKCI | NTLGSFECQC | LQGYTGPRCE | IDVNECVSNP | CQNDATCLDQ | IGEFQCICMP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GYEGVHCEVN | TDECASSPCL | HNGRCLDKIN | EFQCECPTGF | TGHLCQYDVD | ECASTPCKNG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AKCLDGPNTY | TCVCTEGYTG | THCEVDIDEC | DPDPCHYGSC | KDGVATFTCL | CRPGYTGHHC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ETNINECSSQ | PCRHGGTCQD | RDNAYLCFCL | KGTTGPNCEI | NLDDCASSPC | DSGTCLDKID |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GYECACEPGY | TGSMCNINID | ECAGNPCHNG | GTCEDGINGF | TCRCPEGYHD | PTCLSEVNEC |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NSNPCVHGAC | RDSLNGYKCD | CDPGWSGTNC | DINNNECESN | PCVNGGTCKD | MTSGYVCTCR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EGFSGPNCQT | NINECASNPC | LNQGTCIDDV | AGYKCNCLLP | YTGATCEVVL | APCAPSPCRN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GGECRQSEDY | ESFSCVCPTG | WQGQTCEVDI | NECVLSPCRH | GASCQNTHGG | YRCHCQAGYS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GRNCETDIDD | CRPNPCHNGG | SCTDGINTAF | CDCLPGFRGT | FCEEDINECA | SDPCRNGANC |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TDCVDSYTCT | CPAGFSGIHC | ENNTPDCTES | SCFNGGTCVD | GINSFTCLCP | PGFTGSYCQH |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| DVNECDSQPC | LHGGTCQDGC | GSYRCTCPQG | YTGPNCQNLV | HWCDSSPCKN | GGKCWQTHTQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| YRCECPSGWT | GLYCDVPSVS | CEVAAQRQGV | DVARLCQHGG | LCVDAGNTHH | CRCQAGYTGS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| YCEDLVDECS | PSPCQNGATC | TDYLGGYSCK | CVAGYHGVNC | SEEIDECLSH | PCQNGGTCLD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| LPNTYKCSCP | RGTQGVHCEI | NVDDCNPPVD | PVSRSPKCFN | NGTCVDQVGG | YSCTCPPGFV |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| GERCEGDVNE | CLSNPCDARG | TQNCVQRVND | FHCECRAGHT | GRRCESVING | CKGKPCKNGG |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| TCAVASNTAR | GFICKCPAGF | EGATCENDAR | TCGSLRCLNG | GTCISGPRSP | TCLCLGPFTG |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| PECQFPASSP | CLGGNPCYNQ | GTCEPTSESP | FYRCLCPAKF | NGLLCHILDY | SFGGGAGRDI |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| PPPLIEEACE | LPECQEDAGN | KVCSLQCNNH | ACGWDGGDCS | LNFNDPWKNC | TQSLQCWKYF |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| SDGHCDSQCN | SAGCLFDGFD | CQRAEGQCNP | LYDQYCKDHF | SDGHCDQGCN | SAECEWDGLD |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| CAEHVPERLA | AGTLVVVVLM | PPEQLRNSSF | HFLRELSRVL | HTNVVFKRDA | HGQQMIFPYY |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| GREEELRKHP | IKRAAEGWAA | PDALLGQVKA | SLLPGGSEGG | RRRRELDPMD | VRGSIVYLEI |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| DNRQCVQASS | QCFQSATDVA | AFLGALASLG | SLNIPYKIEA | VQSETVEPPP | PAQLHFMYVA |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| AAAFVLLFFV | GCGVLLSRKR | RRQHGQLWFP | EGFKVSEASK | KKRREPLGED | SVGLKPLKNA |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| SDGALMDDNQ | NEWGDEDLET | KKFRFEEPVV | LPDLDDQTDH | RQWTQQHLDA | ADLRMSAMAP |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| TPPQGEVDAD | CMDVNVRGPD | GFTPLMIASC | SGGGLETGNS | EEEEDAPAVI | SDFIYQGASL |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| HNQTDRTGET | ALHLAARYSR | SDAAKRLLEA | SADANIQDNM | GRTPLHAAVS | ADAQGVFQIL |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| IRNRATDLDA | RMHDGTTPLI | LAARLAVEGM | LEDLINSHAD | VNAVDDLGKS | ALHWAAAVNN |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| VDAAVVLLKN | GANKDMQNNR | EETPLFLAAR | EGSYETAKVL | LDHFANRDIT | DHMDRLPRDI |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| AQERMHHDIV | RLLDEYNLVR | SPQLHGAPLG | GTPTLSPPLC | SPNGYLGSLK | PGVQGKKVRK |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| PSSKGLACGS | KEAKDLKARR | KKSQDGKGCL | LDSSGMLSPV | DSLESPHGYL | SDVASPPLLP |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| SPFQQSPSVP | LNHLPGMPDT | HLGIGHLNVA | AKPEMAALGG | GGRLAFETGP | PRLSHLPVAS |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| GTSTVLGSSS | GGALNFTVGG | STSLNGQCEW | LSRLQSGMVP | NQYNPLRGSV | APGPLSTQAP |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| SLQHGMVGPL | HSSLAASALS | QMMSYQGLPS | TRLATQPHLV | QTQQVQPQNL | QMQQQNLQPA |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| NIQQQQSLQP | PPPPPQPHLG | VSSAASGHLG | RSFLSGEPSQ | ADVQPLGPSS | LAVHTILPQE |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| SPALPTSLPS | SLVPPVTAAQ | FLTPPSQHSY | SSPVDNTPSH | QLQVPEHPFL | TPSPESPDQW |
| 2530 | 2540 | 2550 | |||
| SSSSPHSNVS | DWSEGVSSPP | TSMQSQIARI | PEAFK |