Q86UX7
EV
Gene name |
FERMT3 (KIND3, MIG2B, URP2) |
Protein name |
Fermitin family homolog 3 |
Names |
Kindlin-3, MIG2-like protein, Unc-112-related protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83706 |
EC number |
|
Protein Class |
|
Descriptions
Kindlin-3 is a member of the kindlin family of focal adhesion proteins which bind to integrin beta-chain cytoplasmic domains to regulate integrin function. kindlin-3 is maintained in a homotrimer state, which is different from the monomer that binds integrin β cytoplasmic tails. The trimer formation of kindlin-3 results in an autoinhibited state, as the integrin-binding pocket is blocked by the pleckstrin homology (PH) domain of another protomer. Mutations disrupting the trimer interface (Q471A, A475F, S478A) lead to increased integrin-mediated cell adhesion and spreading, indicating relief from autoinhibition. This autoinhibition regulates kindlin-3’s role in integrin activation and signaling, with implications for diseases like leukocyte adhesion deficiency (LAD) III and cancer.
Autoinhibitory domains (AIDs)
Target domain |
569-680 (F3 subdomain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Mutagenesis experiment, Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q86UX7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YS3 | NMR | - | A | 349-482 | PDB |
| 6V97 | X-ray | 238 A | A/B | 1-667 | PDB |
| 6V9G | X-ray | 235 A | A/B | 1-667 | PDB |
| 7C3M | X-ray | 360 A | A/B/C | 1-667 | PDB |
| AF-Q86UX7-F1 | Predicted | AlphaFoldDB |
587 variants for Q86UX7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6068607 RCV001210681 rs551546723 |
2 | A>V | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001047380 rs200509898 CA223833879 |
9 | G>R | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001221854 rs1946335026 |
12 | I>V | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381079474 rs778799174 RCV000796873 |
14 | S>W | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs121918296 CA115698 RCV000002828 |
16 | W>* | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002536387 CA6068619 rs150500299 RCV000704580 |
19 | R>Q | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs144256756 CA6068626 RCV000477963 |
29 | A>V | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1946337090 RCV001215278 |
35 | R>L | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149000560 RCV000526322 RCV001081827 CA201712 RCV000175957 |
44 | G>R | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001046680 rs1946338724 |
47 | L>Q | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA201708 rs142815441 RCV000646732 RCV000175956 |
53 | I>M | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6068683 RCV000950765 rs146932041 |
69 | K>T | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001309887 rs370418382 CA6068693 |
88 | D>N | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000646730 CA6068695 rs373315115 |
90 | R>C | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs552829558 RCV000810614 CA6068696 |
90 | R>H | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000707414 CA6068700 rs145048660 |
100 | V>I | Variant assessed as Somatic; 0.0 impact. Leukocyte adhesion deficiency 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA381081383 RCV001203758 rs1430138108 |
103 | R>Q | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002530483 RCV000646737 rs138704967 CA6068705 |
107 | R>H | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213075 CA6068709 rs765368032 |
109 | A>T | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM930007 CA6068711 RCV000767975 rs140328152 RCV002536597 COSM930006 |
111 | R>C | endometrium Leukocyte adhesion deficiency 3 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001529981 RCV000701213 RCV002466570 rs145419469 CA6068712 |
111 | R>H | Leukocyte adhesion deficiency 3 Leukocyte adhesion deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000698068 CA6068722 rs773077169 |
129 | R>H | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001301789 rs1946424644 |
140 | S>F | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063972 rs776324976 |
148 | K>missing | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000646731 rs759155629 |
153 | K>missing | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001343899 CA223836472 rs895025488 |
159 | E>K | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1946427260 RCV001315085 |
169 | L>F | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6068801 RCV000820388 rs756692622 |
173 | V>M | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000879029 rs113348354 RCV002536805 CA6068805 |
176 | A>V | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061264 rs778967874 CA223836842 |
179 | R>L | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM930010 COSM930011 CA6068808 rs778967874 RCV000646729 |
179 | R>Q | endometrium Leukocyte adhesion deficiency 3 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6068807 RCV001205840 rs754848089 |
179 | R>W | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001322965 rs1946432873 |
187 | D>G | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6068813 rs200176196 RCV000804033 |
189 | A>T | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001217090 CA6068814 rs777178622 RCV000323465 |
190 | Q>E | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs78534353 RCV002551438 CA6068819 RCV001039076 |
203 | P>L | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143873934 RCV000646738 CA6068818 |
203 | P>S | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201973872 COSM1355629 COSM1355628 RCV001237298 CA6068824 |
206 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine Leukocyte adhesion deficiency 3 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001226337 CA6068826 rs147374831 |
210 | L>H | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6068828 RCV000699563 rs369072342 |
212 | R>C | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001071937 rs200467635 RCV002554639 CA6068829 |
212 | R>H | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6068832 RCV001322061 rs542357552 |
215 | R>Q | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000797176 rs1591028090 |
222 | K>missing | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA115705 rs121918298 RCV000002830 |
229 | W>* | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1946443415 RCV001316778 |
236 | L>F | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1402606308 RCV001232913 |
243 | A>G | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776202905 CA6068876 RCV001048218 |
244 | G>E | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000767978 RCV002533929 rs150869428 RCV002293478 CA6068879 |
246 | A>T | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000808521 rs1591037806 |
272 | Y>missing | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA223844203 rs568602034 RCV000687389 |
283 | E>D | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381084765 rs1294902127 RCV001228811 |
288 | E>K | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA223844444 rs906322276 RCV000800561 |
301 | I>V | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000702881 CA6068953 rs748770309 |
308 | G>R | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6068962 RCV000552041 rs566565776 |
314 | A>V | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001205366 rs1177180183 |
323 | L>V | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1591038431 CA381085504 RCV000811283 |
331 | E>A | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1946632820 RCV001341166 |
344 | D>Y | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6069036 rs764978388 RCV001425618 |
363 | R>Q | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1347504374 RCV001338223 CA381086736 |
377 | W>C | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001220582 rs1946639980 |
384 | T>I | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs75295961 RCV000646734 CA6069050 |
390 | S>R | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001067681 CA6069052 RCV002555861 rs377759054 |
393 | E>K | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779562122 RCV002561670 RCV001208136 CA6069091 |
415 | V>I | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6069094 RCV000800920 rs150164798 |
417 | G>S | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775138431 RCV000023665 |
430 | E>missing | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230850 rs767054440 CA6069106 |
438 | R>Q | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371103107 CA6069141 RCV001203893 |
458 | G>D | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775462582 CA6069142 RCV001063618 |
459 | R>C | Variant assessed as Somatic; 0.0 impact. Leukocyte adhesion deficiency 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs763449183 RCV001326690 CA6069143 |
459 | R>H | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000883977 CA6069151 rs373999037 |
469 | E>K | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758346041 CA6069152 RCV002535969 RCV000823023 |
471 | Q>R | Leukocyte adhesion deficiency 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6069166 rs561391251 RCV001046043 |
487 | P>L | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000799221 CA6069173 rs142686129 |
495 | D>A | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6069180 RCV001207660 rs142543888 |
505 | G>S | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001060639 rs773617643 CA223846048 |
506 | L>F | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001065452 CA6069184 rs769458086 COSM3809928 COSM3809929 |
507 | V>I | Variant assessed as Somatic; 0.0 impact. Leukocyte adhesion deficiency 3 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA381088456 rs1267328953 RCV001045414 |
511 | F>C | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000892963 rs138031026 CA6069190 |
512 | Q>P | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000002831 rs121918295 CA115708 |
513 | R>* | Variant assessed as Somatic; impact. Leukocyte adhesion deficiency 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1591041141 RCV000797769 |
557 | Y>missing | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318908 CA6069261 rs754239815 |
567 | K>R | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs756707894 RCV003160203 RCV001035274 CA6069265 |
574 | A>T | Variant assessed as Somatic; 0.0 impact. Leukocyte adhesion deficiency 3 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001227445 rs1946752193 |
575 | N>I | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121918297 RCV000002829 CA115701 |
577 | R>* | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001192941 CA6069274 rs767660746 RCV001349622 |
585 | V>M | Variant assessed as Somatic; 0.0 impact. Leukocyte adhesion deficiency 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_074597 | 599 | Q>S | LAD3; unknown pathological significance; decreases cell adhesion in hematopoietic cells; requires 2 nucleotide substitutions [UniProt] | Yes | UniProt |
|
CA6069281 RCV001037329 rs751183978 |
607 | R>Q | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201257852 RCV001064612 CA6069305 |
614 | D>N | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1337201735 CA381090405 RCV000551814 |
618 | N>S | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001343036 rs375257104 CA6069310 |
629 | R>* | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA381090697 rs1565299599 RCV000699817 |
636 | G>V | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002519264 RCV000292901 rs886043481 CA10605571 |
644 | R>W | Variant assessed as Somatic; 0.0 impact. Leukocyte adhesion deficiency 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000705954 rs778780064 CA6069322 |
646 | R>W | Leukocyte adhesion deficiency 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6069326 rs368565732 RCV001223521 |
648 | R>H | Variant assessed as Somatic; 0.0 impact. Leukocyte adhesion deficiency 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA381079392 rs1565287895 |
2 | A>T | No |
ClinGen Ensembl |
|
|
rs920303282 CA381079403 |
4 | M>L | No |
ClinGen gnomAD |
|
|
rs920303282 CA223833871 |
4 | M>V | No |
ClinGen gnomAD |
|
|
rs1289333863 CA381079425 |
7 | A>T | No |
ClinGen gnomAD |
|
|
rs980396974 CA223833876 |
8 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs200509898 CA381079437 |
9 | G>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1248940301 CA381079446 |
10 | D>E | No |
ClinGen TOPMed |
|
|
CA6068612 rs141640835 |
10 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1285281793 CA381079443 |
10 | D>V | No |
ClinGen gnomAD |
|
|
CA381079448 rs1484455414 |
11 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6068613 rs375595381 |
13 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6068614 rs778799174 |
14 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778799174 CA381079473 |
14 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1287375235 CA381079475 |
15 | S>T | No |
ClinGen gnomAD |
|
|
CA6068617 rs773550225 |
18 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs772115690 CA6068616 |
18 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6068618 rs747046546 |
19 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs931727572 CA223833910 |
20 | V>G | No |
ClinGen Ensembl |
|
|
rs777090294 CA6068620 |
20 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA381079513 rs1390237296 |
21 | F>L | No |
ClinGen gnomAD |
|
|
rs759997761 CA6068621 |
21 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs139520045 CA6068623 |
25 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6068622 rs765757409 |
25 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 26 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765945446 CA6068628 |
31 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6068631 rs778995279 |
33 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591022544 CA381079626 |
33 | T>P | No |
ClinGen Ensembl |
|
|
rs1249761583 CA381079637 |
34 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381079643 rs1456066443 |
35 | R>G | No |
ClinGen TOPMed |
|
|
CA6068632 rs140913422 |
35 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140913422 CA381079646 |
35 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456066443 CA381079644 |
35 | R>W | No |
ClinGen TOPMed |
|
|
rs1266306957 CA381079654 |
36 | V>F | No |
ClinGen TOPMed |
|
|
rs182351045 CA6068636 |
39 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776644484 CA381079688 |
40 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs745962281 CA6068638 |
40 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6068637 rs776644484 |
40 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1297911127 CA381079694 |
41 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs200960603 CA6068640 |
42 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764571646 CA6068642 |
43 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6068646 rs759179590 |
45 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1299520902 CA381079745 |
46 | L>P | No |
ClinGen TOPMed |
|
|
rs1299520902 CA381079744 |
46 | L>R | No |
ClinGen TOPMed |
|
|
rs1225010353 CA381079738 |
46 | L>V | No |
ClinGen gnomAD |
|
|
CA6068649 rs369062120 |
48 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375241843 CA6068650 |
49 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223834009 rs936699931 |
49 | I>V | No |
ClinGen TOPMed |
|
|
rs751379709 CA6068651 |
52 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA381079805 rs1468067201 |
52 | Q>L | No |
ClinGen gnomAD |
|
|
CA223834022 rs892554921 |
54 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6068679 rs372896351 |
54 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223835893 rs372896351 |
54 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs892554921 CA381079822 |
54 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769352433 CA381080726 |
55 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769352433 CA6068680 |
55 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6068681 rs376084645 |
55 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762375804 CA381080839 |
62 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565289822 CA381080849 |
64 | I>V | No |
ClinGen Ensembl |
|
|
rs1004384498 CA223835935 |
70 | R>S | No |
ClinGen Ensembl |
|
|
CA381080970 rs1200354303 |
71 | Q>H | No |
ClinGen TOPMed |
|
|
rs1473238904 CA381080976 |
72 | W>R | No |
ClinGen gnomAD |
|
|
rs774331055 CA6068684 |
74 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767344989 CA6068686 |
77 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA381081086 rs1157672245 |
79 | T>I | No |
ClinGen gnomAD |
|
|
CA223835951 rs1019817566 |
81 | D>H | No |
ClinGen Ensembl |
|
|
rs137865691 CA6068690 |
83 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201046544 CA6068688 |
83 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 87 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223835967 rs779819677 |
89 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM1355627 rs1003429411 COSM1355626 CA223835998 |
91 | L>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6068697 rs769423481 |
93 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034960775 CA223836004 |
95 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6068698 rs775071774 |
95 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1591026799 CA381081327 |
97 | H>P | No |
ClinGen Ensembl |
|
|
rs1470034970 CA381081332 |
97 | H>Q | No |
ClinGen gnomAD |
|
|
rs140992702 CA6068699 |
98 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA381081336 rs1176125299 |
98 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381081352 rs145048660 |
100 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6068702 rs572874105 |
103 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381081400 rs1234891134 |
105 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200137861 CA6068704 |
107 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6068706 rs766606318 |
108 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6068707 rs555550645 |
108 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754671599 CA223836054 |
110 | L>V | No |
ClinGen Ensembl |
|
|
rs747397824 CA381081458 |
112 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747397824 CA6068713 |
112 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1704193 rs757621690 CA6068714 COSM1704194 |
113 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6068716 rs748937343 |
113 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757621690 CA6068715 |
113 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6068717 rs768332990 |
115 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381081503 rs1394123899 |
116 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6068718 rs778348100 |
120 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381081539 rs778348100 |
120 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM689757 rs1417112946 CA381081557 COSM689758 |
121 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA381081554 rs1335388234 |
121 | F>Y | No |
ClinGen TOPMed |
|
|
CA381081563 rs1565290057 |
122 | Q>* | No |
ClinGen Ensembl |
|
|
rs1455753749 CA381081565 |
122 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1409375048 CA381081575 |
123 | A>D | No |
ClinGen gnomAD |
|
|
CA381081577 rs1409375048 |
123 | A>V | No |
ClinGen gnomAD |
|
|
CA223836114 rs994498846 |
124 | V>M | No |
ClinGen Ensembl |
|
|
rs771990689 CA6068721 |
125 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438834162 CA381081602 |
126 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1047471580 CA223836126 |
127 | I>M | No |
ClinGen Ensembl |
|
|
CA381081628 rs1325261167 |
129 | R>C | No |
ClinGen gnomAD |
|
|
rs1433083830 CA381081641 |
130 | L>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 130 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 131 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364495656 CA381081699 |
132 | S>N | No |
ClinGen gnomAD |
|
|
CA381081725 rs1471187267 |
134 | R>Q | No |
ClinGen gnomAD |
|
|
CA223836366 rs868019900 |
134 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372070023 CA223836372 |
136 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762181713 CA6068749 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047416270 CA223836379 |
138 | E>K | No |
ClinGen gnomAD |
|
|
CA381081810 rs750690989 |
143 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756525841 CA381081812 |
143 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756525841 CA6068752 |
143 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6068751 rs750690989 |
143 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778511386 CA6068753 COSM1206994 COSM1206995 |
144 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA381081839 rs1282283251 |
145 | P>L | No |
ClinGen gnomAD |
|
|
CA381081876 rs1189533527 |
149 | E>K | No |
ClinGen TOPMed |
|
|
CA381081901 rs12794742 |
150 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6068757 rs758076788 |
151 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223836440 rs539078178 |
152 | K>N | No |
ClinGen 1000Genomes |
|
|
CA381081944 rs1175728400 |
156 | E>K | No |
ClinGen gnomAD |
|
|
CA381081954 rs1434515318 |
157 | P>S | No |
ClinGen gnomAD |
|
|
CA381081958 rs777098978 |
158 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777098978 CA6068758 |
158 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223836493 rs12797097 |
159 | E>G | No |
ClinGen Ensembl |
|
|
CA381081984 rs1216941516 |
160 | E>D | No |
ClinGen TOPMed |
|
|
rs1375507927 CA381081973 |
160 | E>K | No |
ClinGen gnomAD |
|
|
CA223836518 rs900256457 |
161 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1591027482 CA381082001 |
162 | Y>C | No |
ClinGen Ensembl |
|
|
CA223836541 rs997016435 CA381082026 |
164 | L>F | No |
ClinGen gnomAD |
|
|
rs1345231529 CA381082020 |
164 | L>V | No |
ClinGen gnomAD |
|
|
rs1233329943 CA381082022 |
164 | L>W | No |
ClinGen gnomAD |
|
|
CA223836549 rs1049025880 |
165 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381082054 rs1194002871 |
167 | V>F | No |
ClinGen gnomAD |
|
|
rs1468949965 CA381082080 |
170 | A>T | No |
ClinGen gnomAD |
|
|
CA381082088 rs1195528393 |
170 | A>V | No |
ClinGen gnomAD |
|
|
CA6068762 rs374612635 |
171 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6068804 rs749978481 |
175 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749978481 CA6068803 |
175 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753685222 CA381082214 |
178 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6068810 rs772203611 |
182 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA223836855 rs979944117 |
184 | H>D | No |
ClinGen Ensembl |
|
| TCGA novel | 184 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223836869 rs558117395 |
185 | F>L | No |
ClinGen 1000Genomes |
|
|
CA6068811 rs777770756 |
186 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA381082321 rs1416584001 |
188 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381082344 rs1224433665 |
191 | T>A | No |
ClinGen gnomAD |
|
|
CA381082375 rs1239679200 |
193 | A>G | No |
ClinGen gnomAD |
|
|
rs1281574511 CA381082409 |
196 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6068817 rs775750630 |
200 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374745942 CA6068816 |
200 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1257473158 CA381082491 |
201 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223836953 rs907796548 |
202 | Q>E | No |
ClinGen Ensembl |
|
|
rs78534353 CA223836963 |
203 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381082536 rs1417010627 |
204 | P>S | No |
ClinGen gnomAD |
|
|
rs766409625 CA6068822 |
205 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA223836983 rs112288526 |
207 | P>L | No |
ClinGen Ensembl |
|
|
CA381082600 rs778718881 |
208 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6068825 rs778718881 |
208 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs369072342 CA381082677 |
212 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381082675 rs369072342 |
212 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6068833 rs542357552 |
215 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6068834 rs542357552 |
215 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6068831 rs781642005 |
215 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771851015 CA6068836 |
216 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234157032 CA381082784 |
218 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6068837 rs773060328 |
221 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1253271027 CA381082885 |
225 | L>P | No |
ClinGen gnomAD |
|
|
CA6068838 rs760227593 |
227 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs140948450 CA6068867 |
233 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs892030184 CA223837213 |
234 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA381083043 rs1260750258 |
234 | R>W | No |
ClinGen gnomAD |
|
|
CA381083055 rs1591028633 |
235 | C>G | No |
ClinGen Ensembl |
|
|
rs1591028637 CA381083068 |
235 | C>W | No |
ClinGen Ensembl |
|
|
CA6068872 rs755560869 |
237 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381083165 rs1408986056 |
242 | K>Q | No |
ClinGen gnomAD |
|
|
CA381083190 rs1402606308 |
243 | A>V | No |
ClinGen gnomAD |
|
|
rs770702307 CA6068875 |
244 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745361817 CA6068877 |
245 | D>G | No |
ClinGen ExAC |
|
|
CA381083815 rs1565291029 |
245 | D>H | No |
ClinGen Ensembl |
|
|
CA6068880 rs762829818 |
246 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283030837 CA381083836 |
247 | L>V | No |
ClinGen gnomAD |
|
|
CA381083866 rs1351019832 |
250 | R>C | No |
ClinGen gnomAD |
|
|
CA6068881 rs764034289 |
250 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381083870 rs764034289 |
250 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591028726 CA381083892 |
252 | K>R | No |
ClinGen Ensembl |
|
|
CA381083937 rs1359134455 |
255 | S>R | No |
ClinGen TOPMed |
|
|
rs1316286119 CA381083963 |
257 | F>L | No |
ClinGen TOPMed |
|
|
rs368973559 CA6068883 |
257 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139416960 CA6068884 |
258 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM173143 CA223837317 rs139416960 COSM173142 |
258 | D>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6068886 rs760781853 |
259 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA381084021 rs1210074815 |
260 | D>V | No |
ClinGen gnomAD |
|
|
rs553045950 CA223837328 |
261 | P>R | No |
ClinGen Ensembl |
|
|
rs1591037755 CA381084538 |
264 | D>A | No |
ClinGen Ensembl |
|
|
CA381084535 rs1303226802 |
264 | D>H | No |
ClinGen gnomAD |
|
|
CA381084547 rs747999447 |
265 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA223844101 rs200776976 |
265 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs747999447 CA6068920 |
265 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381084558 rs1363376086 |
266 | V>A | No |
ClinGen TOPMed |
|
|
CA223844112 rs907338238 |
266 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs907338238 CA381084553 |
266 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1257489948 CA381084563 |
267 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA223844151 rs1003078817 |
269 | T>S | No |
ClinGen Ensembl |
|
|
rs1469125015 CA381084585 |
270 | Q>* | No |
ClinGen gnomAD |
|
|
rs771042851 CA6068924 |
272 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1321313679 CA381084645 |
275 | A>V | No |
ClinGen gnomAD |
|
|
CA381084649 rs777040462 |
276 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6068925 rs777040462 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA223844166 rs1006098373 |
276 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381084660 rs1375285880 |
277 | W>* | No |
ClinGen gnomAD |
|
|
CA381084667 rs1364481163 |
278 | D>G | No |
ClinGen gnomAD |
|
|
rs759656611 CA6068926 |
278 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs759656611 CA6068927 |
278 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA223844202 rs370408444 |
280 | L>M | No |
ClinGen ESP TOPMed |
|
|
CA381084684 rs1156752209 |
280 | L>Q | No |
ClinGen TOPMed |
|
|
rs1364484331 CA381084727 |
284 | I>S | No |
ClinGen TOPMed |
|
|
rs1398918600 CA381084746 |
286 | C>Y | No |
ClinGen gnomAD |
|
|
CA381084754 rs1591037895 |
287 | T>P | No |
ClinGen Ensembl |
|
|
rs1591037904 CA381084791 |
290 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 291 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6068929 rs763311112 |
291 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764669409 CA6068930 |
292 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295956051 CA381084813 |
292 | M>V | No |
ClinGen gnomAD |
|
|
rs560195082 CA6068931 |
295 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1030764940 CA223844232 COSM429517 COSM429518 |
296 | A>T | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6068933 rs765997084 |
296 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381084943 rs1591038208 |
299 | Y>C | No |
ClinGen Ensembl |
|
|
CA381084939 rs1591038203 |
299 | Y>D | No |
ClinGen Ensembl |
|
|
rs1417662163 CA381084956 |
300 | H>Y | No |
ClinGen gnomAD |
|
|
CA381084978 rs1376001840 |
301 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767832129 CA6068950 |
305 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6068951 rs750812959 |
306 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6068954 rs752131979 |
309 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA223844500 rs752131979 |
309 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1591038272 CA381085145 |
310 | V>G | No |
ClinGen Ensembl |
|
|
rs746923279 CA6068957 |
311 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs533848063 CA6068958 |
312 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 312 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381085163 rs1208600897 |
312 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6068960 rs141200776 |
313 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781076364 CA6068959 |
313 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6068961 rs547666220 |
314 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381085193 rs547666220 |
314 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1395456340 CA381085214 |
315 | G>D | No |
ClinGen gnomAD |
|
|
CA381085249 rs768723190 |
317 | D>E | No |
ClinGen Ensembl |
|
|
CA6068965 rs774328748 |
322 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381085330 rs1177180183 |
323 | L>M | No |
ClinGen TOPMed |
|
|
rs1374970885 CA381085370 |
325 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1446309770 CA381085394 |
326 | A>V | No |
ClinGen gnomAD |
|
|
rs1350694647 CA381085475 |
330 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1169860008 CA381085471 |
330 | L>V | No |
ClinGen TOPMed |
|
|
CA381085485 rs1278572116 |
331 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381085534 rs1308524282 |
333 | K>N | No |
ClinGen gnomAD |
|
|
CA223844538 rs1044835062 |
333 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6068967 rs772568193 |
334 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA381085572 rs1591038457 |
337 | S>A | No |
ClinGen Ensembl |
|
|
COSM930016 CA381085576 COSM930017 rs1456223717 |
337 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA223844540 rs1006026359 |
338 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6068971 rs752432697 |
342 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381085638 rs1424383197 |
343 | L>P | No |
ClinGen gnomAD |
|
|
CA381085768 rs1411126608 |
350 | P>A | No |
ClinGen gnomAD |
|
|
rs748199007 CA6069000 |
354 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6069001 rs772191175 |
355 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591038752 CA381085852 |
356 | L>P | No |
ClinGen Ensembl |
|
|
CA381085858 rs1354176121 |
357 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381085871 rs1218466242 |
358 | I>T | No |
ClinGen gnomAD |
|
|
rs1260940828 CA381085880 |
359 | F>L | No |
ClinGen gnomAD |
|
|
CA6069003 rs747475656 |
359 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1252368 CA6069004 COSM1252367 rs771347436 |
360 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA381085898 rs1239277296 |
360 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs143722885 CA6069035 |
363 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146822669 CA6069038 |
366 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281625816 CA381086680 |
369 | T>S | No |
ClinGen TOPMed |
|
|
rs897637418 CA223845009 |
372 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA381086703 rs1346571762 |
373 | Y>H | No |
ClinGen TOPMed |
|
|
rs867531303 CA223845011 |
374 | R>C | No |
ClinGen gnomAD |
|
|
rs1297918425 CA381086712 COSM3416093 COSM3416092 |
374 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs757320764 CA6069041 |
375 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140579293 CA6069040 |
375 | Q>L | No |
ClinGen ESP ExAC |
|
|
CA381086728 rs1285471824 |
376 | H>Q | No |
ClinGen gnomAD |
|
|
rs781707563 CA6069042 |
379 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA381086745 rs1160463246 |
379 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381086751 rs1400797152 |
380 | F>V | No |
ClinGen TOPMed |
|
|
rs780496022 CA6069045 |
381 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs749680084 CA6069046 |
382 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381086766 rs1466904039 |
382 | E>K | No |
ClinGen gnomAD |
|
|
CA6069047 rs771832904 |
385 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA223845077 rs764597213 |
386 | S>C | No |
ClinGen Ensembl |
|
|
CA6069048 rs201857518 |
387 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746510133 CA6069049 |
389 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6069051 rs542624473 |
392 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs775252663 CA381086846 |
394 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6069053 rs769738259 |
394 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6069054 rs775252663 |
394 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533796385 CA223845145 |
395 | P>L | No |
ClinGen gnomAD |
|
|
CA6069056 rs764269977 |
397 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1509363 rs1451573592 CA381086858 COSM1509362 |
397 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1262486630 CA381086870 |
398 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 398 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751777617 CA6069057 |
399 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs752166840 CA223845158 |
399 | I>T | No |
ClinGen gnomAD |
|
|
CA6069058 rs751777617 |
399 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6069060 rs148021416 |
400 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6069059 rs767453061 |
400 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA381086883 rs1372164128 |
401 | Q>* | No |
ClinGen gnomAD |
|
|
rs780759663 CA6069061 |
402 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780759663 CA381086890 |
402 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261288967 CA381086902 |
404 | L>I | No |
ClinGen TOPMed |
|
|
rs1565296145 CA381086933 |
406 | G>D | No |
ClinGen Ensembl |
|
|
CA381086956 rs1288592689 |
410 | V>I | No |
ClinGen gnomAD |
|
|
rs140907017 CA6069089 |
412 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381086982 rs1423832924 |
413 | V>I | No |
ClinGen TOPMed |
|
|
CA6069096 rs772177008 |
420 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6069097 rs773536009 |
421 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6069098 rs761004758 |
421 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1198903672 CA381087103 |
424 | L>F | No |
ClinGen TOPMed |
|
|
CA6069102 rs138409149 |
428 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753000395 CA6069104 |
430 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381087159 rs1489964334 |
430 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 432 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6069105 rs758837835 |
434 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381087233 rs1591039760 |
436 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 437 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767054440 CA381087249 |
438 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381087248 rs1294345991 |
438 | R>W | No |
ClinGen TOPMed |
|
|
rs753337354 CA6069129 |
442 | E>G | No |
ClinGen ExAC |
|
|
CA6069128 rs766075114 |
442 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6069130 rs754553709 |
443 | Q>E | No |
ClinGen ExAC |
|
|
rs1351961380 CA381087377 |
446 | A>S | No |
ClinGen gnomAD |
|
|
rs777655891 CA6069134 |
447 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381087436 rs1450346205 |
450 | A>D | No |
ClinGen gnomAD |
|
|
CA381087465 rs1591040044 |
452 | C>W | No |
ClinGen Ensembl |
|
|
CA6069136 rs746859424 |
453 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6069137 rs771275085 |
453 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381087473 rs771275085 |
453 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381087501 rs1321022635 |
455 | A>G | No |
ClinGen TOPMed |
|
|
rs745914766 CA6069140 |
458 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6069145 rs774682061 |
460 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs374091426 CA6069147 |
463 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381087594 rs1416173926 |
465 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1001776051 CA223845771 |
467 | T>A | No |
ClinGen TOPMed |
|
|
CA6069149 rs759146290 |
468 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1299547715 CA381087656 |
470 | V>M | No |
ClinGen gnomAD |
|
|
rs1284457803 CA381087695 |
472 | A>V | No |
ClinGen gnomAD |
|
|
CA381087707 rs1448127884 |
473 | I>T | No |
ClinGen TOPMed |
|
|
rs751370857 CA381087714 |
474 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA381087736 rs1290751173 |
475 | A>T | No |
ClinGen gnomAD |
|
|
rs376173104 CA381087789 |
478 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs527520562 CA6069157 |
480 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6069158 rs540846591 |
481 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199749996 CA6069159 |
481 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749384270 CA6069160 |
482 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6069163 rs774874374 |
484 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774874374 CA6069162 |
484 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6069164 rs772388994 |
484 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6069165 rs773457746 |
486 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223845913 rs561391251 |
487 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360598853 CA381087925 |
488 | G>D | No |
ClinGen gnomAD |
|
|
rs775062776 CA6069168 |
488 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA381087961 rs1591040322 |
490 | H>P | No |
ClinGen Ensembl |
|
|
COSM3666495 COSM3666494 CA381087959 rs1314172802 |
490 | H>Y | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs762592480 CA6069169 |
491 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs200660798 CA381087999 |
492 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6069170 rs764103015 |
492 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1277704051 CA381087986 |
492 | H>Y | No |
ClinGen gnomAD |
|
|
rs373722020 CA6069172 |
493 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381088005 rs1460184168 |
493 | G>V | No |
ClinGen gnomAD |
|
|
rs1203250020 COSM398901 CA381088039 COSM398902 |
495 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1459394997 CA381088117 |
498 | A>T | No |
ClinGen gnomAD |
|
|
CA6069175 rs199681648 |
499 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1172693874 CA381088177 |
500 | G>D | No |
ClinGen gnomAD |
|
|
rs1478637268 CA381088174 |
500 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381088172 rs1478637268 |
500 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6069176 rs780204043 |
501 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6069179 rs778983708 |
503 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6069182 rs773617643 |
506 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381088385 rs1222940081 |
508 | A>S | No |
ClinGen gnomAD |
|
|
CA381088398 rs1258958981 |
508 | A>V | No |
ClinGen gnomAD |
|
|
CA6069186 rs762719088 |
509 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184091587 CA6069188 |
510 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452741056 CA381088436 |
510 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6069187 rs184091587 |
510 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6069191 rs138031026 |
512 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA223846128 rs567812970 |
513 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA381088503 rs1165979886 |
514 | K>N | No |
ClinGen gnomAD |
|
|
CA6069194 rs753955418 |
515 | F>C | No |
ClinGen ExAC |
|
|
CA223846163 rs1012125470 |
517 | A>T | No |
ClinGen Ensembl |
|
|
CA381088565 rs1591040963 |
521 | T>P | No |
ClinGen Ensembl |
|
|
rs1213154523 CA381088575 |
522 | P>L | No |
ClinGen TOPMed |
|
|
rs1185267131 CA381088573 |
522 | P>S | No |
ClinGen gnomAD |
|
|
COSM288734 COSM288733 rs1383121861 CA381088579 |
523 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA381088602 rs1443728795 |
526 | E>* | No |
ClinGen gnomAD |
|
|
CA381088608 rs1159209637 |
526 | E>V | No |
ClinGen gnomAD |
|
|
CA223846408 rs968260250 |
527 | A>V | No |
ClinGen Ensembl |
|
|
CA6069219 rs143482882 |
528 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1451732413 CA381088635 |
529 | Q>* | No |
ClinGen gnomAD |
|
|
rs781351939 CA6069220 |
531 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1435204500 CA381088704 |
534 | L>F | No |
ClinGen TOPMed |
|
|
CA223846418 rs923898402 |
534 | L>S | No |
ClinGen Ensembl |
|
|
CA6069224 rs747635996 |
538 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6069227 rs760475221 COSM74651 COSM74652 |
542 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA381088790 rs1205153436 |
542 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 542 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426509746 CA381088799 |
543 | F>Y | No |
ClinGen TOPMed |
|
|
rs770961624 CA6069228 |
544 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770961624 CA381088808 |
544 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776410003 CA6069229 |
545 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs144788597 CA6069232 |
551 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763268722 CA6069233 |
552 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370038112 CA6069235 |
553 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405538743 CA381088931 |
554 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381088926 rs1335009112 |
554 | G>S | No |
ClinGen gnomAD |
|
|
rs1391293529 CA381088995 |
559 | M>I | No |
ClinGen gnomAD |
|
|
rs757689468 CA6069236 |
559 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409762608 CA381089399 |
562 | F>L | No |
ClinGen gnomAD |
|
|
CA381089536 rs1364429871 |
569 | E>K | No |
ClinGen gnomAD |
|
|
rs1430769388 CA381089559 |
570 | I>V | No |
ClinGen gnomAD |
|
|
rs1271575009 CA381089593 |
572 | G>S | No |
ClinGen gnomAD |
|
|
rs780712218 CA6069266 |
576 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA223847986 rs867920578 |
576 | N>S | No |
ClinGen Ensembl |
|
|
rs745740665 COSM1746425 CA6069267 COSM1746426 |
577 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM544314 COSM544313 CA6069269 rs775250461 |
580 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1268657355 CA381089720 |
580 | R>H | No |
ClinGen TOPMed |
|
|
rs184609471 CA6069271 |
581 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA223847999 rs1024674833 |
582 | D>A | No |
ClinGen gnomAD |
|
|
rs774682839 CA6069272 |
582 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA381089776 rs905523221 |
584 | A>P | No |
ClinGen Ensembl |
|
|
rs905523221 CA223848004 |
584 | A>T | No |
ClinGen Ensembl |
|
|
CA381089786 rs1184632125 |
584 | A>V | No |
ClinGen gnomAD |
|
|
rs772113837 CA223848040 |
587 | D>N | No |
ClinGen TOPMed |
|
|
COSM397429 rs373812392 CA6069277 COSM397430 |
588 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 590 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247853574 CA381089867 |
590 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1319704468 CA381089904 |
593 | R>C | No |
ClinGen gnomAD |
|
|
CA223848064 rs996875102 |
593 | R>H | No |
ClinGen TOPMed |
|
|
rs1343140059 CA381089973 |
596 | N>S | No |
ClinGen gnomAD |
|
|
CA6069278 rs754123786 |
598 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773398261 CA6069279 |
598 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754123786 CA381090001 |
598 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765546233 CA6069280 |
603 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1243450393 CA381090105 |
603 | N>K | No |
ClinGen gnomAD |
|
|
CA381090161 rs1314306445 |
606 | I>M | No |
ClinGen gnomAD |
|
|
rs1476225927 CA381090151 |
606 | I>V | No |
ClinGen TOPMed |
|
|
CA381090173 rs1351291515 |
607 | R>W | No |
ClinGen gnomAD |
|
|
CA6069302 rs749901987 |
609 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381090267 rs1438403859 |
610 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755669055 CA6069303 |
611 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA381090317 rs1326775397 |
613 | F>L | No |
ClinGen gnomAD |
|
|
CA223848258 rs1053197688 |
615 | E>* | No |
ClinGen Ensembl |
|
|
rs1228148758 CA381090477 |
623 | C>S | No |
ClinGen TOPMed |
|
|
CA6069308 rs759755171 |
624 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443778098 CA381090525 |
626 | A>G | No |
ClinGen TOPMed |
|
|
rs1272944950 CA381090646 |
633 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1396214789 CA381090659 |
634 | Y>C | No |
ClinGen TOPMed |
|
|
rs142025489 CA6069312 |
635 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6069313 rs760031042 |
636 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770264007 CA6069314 |
637 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1476278087 CA381090736 |
639 | I>L | No |
ClinGen gnomAD |
|
|
rs763346603 CA6069316 |
640 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1305088399 CA381090791 |
642 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765844365 CA6069320 |
643 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381090808 rs886043481 |
644 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6069321 rs371563698 |
644 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752521466 CA6069323 |
646 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381090854 rs1438060121 |
648 | R>C | No |
ClinGen TOPMed |
|
|
CA381090860 rs368565732 |
648 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368565732 CA6069325 |
648 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381090862 rs1262063315 |
649 | G>R | No |
ClinGen gnomAD |
|
|
rs1591047739 CA381090892 |
651 | E>G | No |
ClinGen Ensembl |
|
|
CA381090900 rs1389297386 |
652 | L>P | No |
ClinGen gnomAD |
|
|
CA6069328 rs781320126 |
652 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs140165626 CA6069329 |
654 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381090916 rs1444967659 |
654 | E>K | No |
ClinGen gnomAD |
|
|
rs1457484861 CA381090943 |
656 | L>F | No |
ClinGen gnomAD |
|
|
CA381090983 rs1380719130 |
662 | G>R | No |
ClinGen gnomAD |
|
|
rs1384028715 CA381091001 |
663 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA223848476 rs977349618 |
664 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs977349618 CA223848481 |
664 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1313568898 CA381091012 |
664 | H>Y | No |
ClinGen gnomAD |
|
|
CA381091034 rs1243515081 |
665 | E>K | No |
ClinGen gnomAD |
1 associated diseases with Q86UX7
[MIM: 612840]: Leukocyte adhesion deficiency 3 (LAD3)
A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. {ECO:0000269|PubMed:18779414, ECO:0000269|PubMed:19064721, ECO:0000269|PubMed:19234460, ECO:0000269|PubMed:19234463, ECO:0000269|PubMed:19617577, ECO:0000269|PubMed:26359933}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. {ECO:0000269|PubMed:18779414, ECO:0000269|PubMed:19064721, ECO:0000269|PubMed:19234460, ECO:0000269|PubMed:19234463, ECO:0000269|PubMed:19617577, ECO:0000269|PubMed:26359933}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q86UX7
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cell-substrate junction | A cell junction that forms a connection between a cell and the extracellular matrix. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| integrin binding | Binding to an integrin. |
| lipid binding | Binding to a lipid. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| integrin activation | The aggregation, arrangement and bonding together of an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits, that lead to the increased affinity of the integrin for its extracellular ligands. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| leukocyte cell-cell adhesion | The attachment of a leukocyte to another cell via adhesion molecules. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| regulation of cell-cell adhesion mediated by integrin | Any process that modulates the frequency, rate, or extent of cell-cell adhesion mediated by integrin. |
| substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32LP0 | FERMT3 | Fermitin family homolog 3 | Bos taurus (Bovine) | SS |
| Q9VZI3 | Fit1 | Unc-112-related protein | Drosophila melanogaster (Fruit fly) | SS |
| Q9BQL6 | FERMT1 | Fermitin family homolog 1 | Homo sapiens (Human) | SS |
| Q96AC1 | FERMT2 | Fermitin family homolog 2 | Homo sapiens (Human) | SS |
| Q9Y4G6 | TLN2 | Talin-2 | Homo sapiens (Human) | SS |
| Q9Y490 | TLN1 | Talin-1 | Homo sapiens (Human) | EV |
| P59113 | Fermt1 | Fermitin family homolog 1 | Mus musculus (Mouse) | SS |
| Q8CIB5 | Fermt2 | Fermitin family homolog 2 | Mus musculus (Mouse) | SS |
| Q8K1B8 | Fermt3 | Fermitin family homolog 3 | Mus musculus (Mouse) | SS |
| P26039 | Tln1 | Talin-1 | Mus musculus (Mouse) | EV |
| Q18685 | unc-112 | Protein unc-112 | Caenorhabditis elegans | SS |
| F1Q8X5 | fermt2 | Fermitin family homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGMKTASGD | YIDSSWELRV | FVGEEDPEAE | SVTLRVTGES | HIGGVLLKIV | EQINRKQDWS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DHAIWWEQKR | QWLLQTHWTL | DKYGILADAR | LFFGPQHRPV | ILRLPNRRAL | RLRASFSQPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FQAVAAICRL | LSIRHPEELS | LLRAPEKKEK | KKKEKEPEEE | LYDLSKVVLA | GGVAPALFRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MPAHFSDSAQ | TEACYHMLSR | PQPPPDPLLL | QRLPRPSSLS | DKTQLHSRWL | DSSRCLMQQG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IKAGDALWLR | FKYYSFFDLD | PKTDPVRLTQ | LYEQARWDLL | LEEIDCTEEE | MMVFAALQYH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| INKLSQSGEV | GEPAGTDPGL | DDLDVALSNL | EVKLEGSAPT | DVLDSLTTIP | ELKDHLRIFR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IPRRPRKLTL | KGYRQHWVVF | KETTLSYYKS | QDEAPGDPIQ | QLNLKGCEVV | PDVNVSGQKF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CIKLLVPSPE | GMSEIYLRCQ | DEQQYARWMA | GCRLASKGRT | MADSSYTSEV | QAILAFLSLQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RTGSGGPGNH | PHGPDASAEG | LNPYGLVAPR | FQRKFKAKQL | TPRILEAHQN | VAQLSLAEAQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LRFIQAWQSL | PDFGISYVMV | RFKGSRKDEI | LGIANNRLIR | IDLAVGDVVK | TWRFSNMRQW |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NVNWDIRQVA | IEFDEHINVA | FSCVSASCRI | VHEYIGGYIF | LSTRERARGE | ELDEDLFLQL |
| TGGHEAF |