Q9Y487
PR
Gene name |
ATP6V0A2 |
Protein name |
V-type proton ATPase 116 kDa subunit a 2 |
Names |
V-ATPase 116 kDa subunit a 2, Lysosomal H(+)-transporting ATPase V0 subunit a 2, TJ6, Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23545 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y487
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y487-F1 | Predicted | AlphaFoldDB |
706 variants for Q9Y487
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002525989 rs752689489 RCV000488263 RCV001111207 RCV002527000 CA6861455 |
9 | T>I | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002265727 RCV000689436 RCV000599054 rs745590426 |
27 | S>missing | ALG9 congenital disorder of glycosylation Cutis laxa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1956303931 RCV001111208 |
30 | G>D | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs80356750 RCV000790836 CA223052 RCV000000888 |
63 | R>* | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001348420 RCV000767074 RCV000439999 rs144499089 CA6861575 RCV000280712 RCV000763801 |
103 | K>N | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000020689 rs80356752 |
118 | L>missing | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6861590 RCV000483300 rs199801221 RCV002526950 |
130 | H>Y | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000729905 RCV001861625 CA6861598 rs143509747 RCV000423155 RCV000763802 RCV001113218 |
141 | R>L | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6861623 RCV001114575 RCV001567082 RCV001856507 RCV002558139 rs747354658 |
147 | P>L | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6861636 RCV000797679 RCV000422153 rs142935490 |
172 | K>R | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1956462432 RCV001290336 |
178 | G>* | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143802431 RCV000872211 RCV000493630 RCV001705460 RCV000310903 CA6861676 RCV000763803 |
205 | A>V | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759593402 RCV002519224 RCV000289008 CA6861698 |
218 | E>K | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001070793 rs759593402 |
218 | E>Q | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535492 RCV000818950 rs879082266 CA245194604 |
249 | V>M | ALG9 congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6861730 rs141467923 RCV001078886 RCV000710656 |
258 | E>G | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs377561982 RCV001108951 RCV001580565 CA6861732 |
259 | R>Q | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001108952 rs1956545181 |
262 | I>M | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6861735 rs201247720 RCV001324109 RCV001108953 |
264 | E>G | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001850627 RCV000271126 CA6861737 rs571403150 |
265 | G>E | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6861736 RCV001108954 rs774118423 RCV002556129 RCV001537393 |
265 | G>R | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs80356754 RCV000020691 |
281 | E>missing | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752306671 RCV001856480 CA6861772 RCV001664691 RCV001111306 |
307 | A>G | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001299829 rs773660973 CA6861786 |
333 | A>P | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1956563926 RCV001290340 |
335 | L>missing | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA148586 rs74922060 RCV000224904 RCV000081543 RCV000362304 RCV000536694 |
339 | R>H | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000520087 RCV000763804 rs781305219 RCV002527632 CA6861793 |
340 | R>W | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000353417 RCV001859640 CA6861828 rs768141782 |
350 | G>S | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001042830 rs958086368 |
355 | S>missing | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6861832 RCV002056828 RCV000498620 rs146967928 |
357 | M>L | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001057370 RCV000522764 CA6861839 rs372416067 RCV000380335 |
366 | P>S | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6861846 rs199698721 RCV001865860 RCV001337117 |
371 | R>H | Cutis laxa with osteodystrophy Variant assessed as Somatic; 0.0 impact. ALG9 congenital disorder of glycosylation [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001216411 rs771839087 CA6861849 RCV001760196 |
373 | N>S | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs79134187 RCV000224475 RCV000283557 CA148588 RCV001079902 RCV000081544 |
374 | K>R | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA223049 RCV000864597 RCV001113315 rs138716143 RCV001079380 RCV000081545 |
420 | V>L | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs80356755 RCV000020683 CA342130 |
442 | E>* | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000174366 RCV001113318 rs532258057 CA239889 RCV002516628 RCV002517675 |
477 | N>I | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001760081 RCV001113317 rs532258057 RCV001862889 CA6861924 |
477 | N>S | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1193899105 CA387157757 RCV001318315 |
478 | L>V | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201271558 RCV001851065 CA6861928 RCV000418070 |
486 | S>L | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000322153 RCV000194414 rs143142641 CA208571 RCV000723907 RCV001088927 |
496 | A>T | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002522225 CA6861967 rs371908109 RCV002272210 RCV002502211 RCV000282196 |
522 | P>L | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139454557 RCV002497684 CA6862004 RCV001200354 |
556 | V>M | Cutis laxa with osteodystrophy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001820821 RCV000352754 rs149700024 RCV001057289 RCV000725521 CA6862038 |
589 | P>L | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs757775762 RCV002520796 CA6862040 RCV000397985 |
597 | I>V | Cutis laxa with osteodystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000313038 CA10641305 rs886049061 |
607 | Y>C | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1956686080 RCV001248468 |
611 | V>missing | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000020684 rs80356756 |
645 | Q>missing | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000425347 RCV001865370 rs147641581 CA6862083 |
657 | A>V | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002521668 rs374410950 CA6862088 RCV000440387 |
669 | L>V | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
CA6862103 RCV001089165 VAR_042730 RCV000419132 RCV001109058 RCV000224010 rs7969410 |
685 | R>Q | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002487367 RCV000307371 RCV001653512 RCV001859843 CA6862133 COSM202789 rs144946016 |
691 | I>T | Cutis laxa with osteodystrophy large_intestine ALG9 congenital disorder of glycosylation [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002482165 rs777130500 RCV001109059 CA6862138 RCV001092698 RCV002555959 |
706 | D>N | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780465961 RCV001262499 |
741 | E>D | Wrinkly skin syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413672 rs941238473 RCV001850997 CA16042840 |
749 | N>S | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001770245 RCV000267400 rs886049062 CA10640483 |
758 | A>V | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA339834 RCV000000887 rs80356758 |
765 | Q>* | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA342134 RCV000020686 rs367543008 |
768 | D>N | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001582944 CA6862220 RCV002494961 rs762614200 RCV002520797 RCV000320280 |
778 | G>V | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768609186 RCV001332966 RCV000591771 CA6862221 |
780 | R>C | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001111400 RCV000640158 rs774276857 CA6862222 |
780 | R>H | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000032647 rs1566294545 |
786 | G>missing | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000518290 rs139509075 RCV003151782 CA6862234 RCV000698250 |
795 | A>V | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_042731 CA148592 RCV000358680 rs17883456 RCV000081549 RCV000538030 |
813 | A>V | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769901746 RCV001764276 RCV000319194 CA6862288 |
848 | K>E | Cutis laxa with osteodystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001113404 CA6862289 RCV002556212 rs775425809 |
849 | F>L | Cutis laxa with osteodystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000371563 RCV000081550 RCV001514987 CA148594 rs75279884 |
850 | N>S | Cutis laxa with osteodystrophy ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6862291 RCV001065442 rs774594773 |
852 | D>N | ALG9 congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1353477591 CA387150384 |
2 | G>W | No |
ClinGen gnomAD |
|
|
CA6861454 rs765084219 |
5 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1375352095 CA387150408 |
6 | R>W | No |
ClinGen TOPMed |
|
|
CA387150421 rs1483553812 |
8 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA387150427 rs1476560182 |
8 | E>D | No |
ClinGen TOPMed |
|
|
rs1483553812 CA387150420 |
8 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6861457 rs758214692 |
10 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387150435 rs1452928305 |
10 | M>T | No |
ClinGen TOPMed |
|
|
CA6861456 rs758214692 |
10 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861459 rs375535547 |
13 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781412434 CA6861460 |
15 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA387150485 rs1287279072 |
18 | Q>* | No |
ClinGen TOPMed |
|
|
CA387150486 rs1287279072 |
18 | Q>K | No |
ClinGen TOPMed |
|
|
CA387150497 rs1389319438 |
19 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 19 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6861463 rs775774045 |
20 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1309604520 CA387150508 |
21 | T>M | No |
ClinGen gnomAD |
|
|
CA245175378 rs866240852 |
22 | A>T | No |
ClinGen Ensembl |
|
|
rs916996699 RCV001091865 CA245175382 |
22 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA387150521 rs1447159510 |
24 | E>K | No |
ClinGen gnomAD |
|
|
CA6861464 rs749862652 |
26 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6861466 rs769037661 |
26 | L>R | No |
ClinGen ExAC |
|
|
CA6861468 rs760083121 |
27 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs772817042 CA6861467 |
27 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA387150549 rs1231152397 |
28 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387150547 rs1231152397 |
28 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387150556 rs1593878087 |
29 | L>P | No |
ClinGen Ensembl |
|
|
rs1593878101 CA387150570 |
31 | E>D | No |
ClinGen Ensembl |
|
|
rs1329604125 CA387150565 |
31 | E>Q | No |
ClinGen TOPMed |
|
|
CA6861471 rs530847875 |
32 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6861473 rs752531666 |
36 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387150602 rs758432165 |
36 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6861475 rs763909320 |
37 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1451532170 CA387150610 |
38 | R>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 40 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6861503 rs756366604 |
40 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228275048 CA387150821 |
42 | Q>* | No |
ClinGen gnomAD |
|
|
rs537120087 CA6861504 |
43 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs887215829 CA245179988 |
43 | N>S | No |
ClinGen Ensembl |
|
|
COSM243129 rs754043585 CA6861506 |
44 | V>I | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754043585 CA6861507 |
44 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779270173 CA6861508 |
45 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6861509 rs748616731 |
46 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969309132 CA245180014 |
47 | F>S | No |
ClinGen TOPMed |
|
|
CA6861510 rs772696151 |
48 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232342001 CA387150901 |
49 | R>I | No |
ClinGen gnomAD |
|
|
CA6861512 rs745342243 |
52 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1181308696 CA387150937 |
52 | V>F | No |
ClinGen gnomAD |
|
|
CA387150933 rs1181308696 |
52 | V>I | No |
ClinGen gnomAD |
|
|
CA6861513 rs769623077 |
54 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387151002 rs1197059310 |
58 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 59 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405573311 CA387151035 |
60 | E>D | No |
ClinGen gnomAD |
|
|
rs1389620222 CA387151027 |
60 | E>Q | No |
ClinGen gnomAD |
|
|
CA6861515 rs200646099 |
61 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387151047 rs1409754195 |
62 | E>Q | No |
ClinGen gnomAD |
|
|
rs1250234665 CA387151056 |
62 | E>V | No |
ClinGen TOPMed |
|
|
CA6861516 rs573668665 |
63 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1211837917 CA387151192 |
66 | V>E | No |
ClinGen TOPMed |
|
|
rs1283640804 CA387151096 |
66 | V>M | No |
ClinGen gnomAD |
|
|
rs759016133 CA6861527 |
70 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387151232 rs1344259310 |
72 | I>V | No |
ClinGen gnomAD |
|
|
CA6861530 rs755687004 |
77 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387151277 rs1189004311 |
78 | P>R | No |
ClinGen gnomAD |
|
|
CA387151296 rs1169678333 |
81 | E>A | No |
ClinGen gnomAD |
|
|
rs1392360558 CA387151299 |
82 | G>R | No |
ClinGen gnomAD |
|
|
CA387151311 rs1192647640 |
83 | E>D | No |
ClinGen gnomAD |
|
|
CA387151318 rs1250729859 |
84 | A>D | No |
ClinGen gnomAD |
|
|
rs1323866333 CA387151313 |
84 | A>T | No |
ClinGen TOPMed |
|
|
rs372988817 CA6861534 |
87 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1172432836 CA387151334 |
87 | P>S | No |
ClinGen gnomAD |
|
|
rs771804638 CA6861536 |
88 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs199633614 CA6861537 |
88 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1362634497 CA387151342 |
89 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6861542 rs765470088 |
96 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA387151397 rs1247351393 |
97 | M>I | No |
ClinGen TOPMed |
|
|
rs999069729 CA245184735 |
97 | M>T | No |
ClinGen Ensembl |
|
|
CA6861543 rs753163543 |
97 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs551494374 CA6861574 |
100 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs794727643 CA275260 RCV000178289 |
102 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1304956692 CA387151592 |
102 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769927427 CA6861578 |
105 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377601811 CA6861579 |
106 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387151642 rs1391130840 |
110 | E>Q | No |
ClinGen gnomAD |
|
|
CA387151649 rs1406699446 |
111 | V>I | No |
ClinGen gnomAD |
|
|
CA6861580 rs763239634 |
115 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA6861583 rs774904501 |
118 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA245186146 rs925809255 |
121 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6861584 rs762260351 |
123 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA387151779 rs762260351 |
123 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6861585 rs767732870 |
124 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs140223278 CA6861586 |
125 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593890786 CA387151812 |
127 | E>K | No |
ClinGen Ensembl |
|
|
CA387151835 rs1251814005 |
128 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6861588 rs764787363 |
128 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6861589 rs752200097 |
129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6861592 rs777386682 |
130 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387151861 rs1184499580 |
131 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751125314 CA387151885 |
133 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861593 rs751125314 |
133 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861591 rs767257316 |
133 | R>T | No |
ClinGen ExAC TOPMed |
|
|
rs202106256 CA6861594 |
136 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202106256 CA387151901 |
136 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1319344210 CA387151908 |
137 | T>A | No |
ClinGen TOPMed |
|
|
CA6861595 rs780788821 |
137 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387151949 rs1481407556 |
140 | K>N | No |
ClinGen gnomAD |
|
|
CA6861597 rs769845216 |
141 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM936482 CA6861599 rs143509747 |
141 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs768807230 CA6861600 |
142 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936214622 CA245186232 |
143 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs761873132 CA6861601 |
144 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6861621 rs772179448 |
145 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs773668656 CA6861622 |
146 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA245187312 rs986939295 |
147 | P>S | No |
ClinGen TOPMed |
|
|
rs1349980805 CA387152070 |
148 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs371147164 CA245187326 |
152 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA6861625 rs150127945 |
153 | P>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6861627 rs763648254 |
154 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1399961 CA245187381 |
157 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6861629 rs761563956 |
158 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387152137 rs761563956 |
158 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767052313 CA6861630 |
159 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA245187402 rs987235400 |
160 | L>F | No |
ClinGen Ensembl |
|
|
RCV000513755 CA6861631 rs750042310 |
161 | L>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1388901153 CA387152161 |
162 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6861633 rs766209532 |
166 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs753839168 CA6861634 |
167 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA387152203 rs1412777433 |
167 | Q>R | No |
ClinGen TOPMed |
|
|
CA6861635 rs754953223 |
168 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208175591 CA387152229 |
171 | A>V | No |
ClinGen gnomAD |
|
|
rs147005791 CA6861637 |
174 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6861638 rs147005791 |
174 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387152243 rs1217740871 CA387152242 |
174 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387152270 rs1566278027 |
176 | V>A | No |
ClinGen Ensembl |
|
|
rs754727464 CA6861661 |
180 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757462880 CA6861662 |
181 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555296748 CA387152335 RCV000504303 |
183 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6861664 rs781572147 |
185 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA6861665 rs746206388 |
186 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770143901 CA6861666 |
187 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336844108 CA387152393 |
188 | F>L | No |
ClinGen TOPMed |
|
|
CA387152433 rs1409702562 |
191 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6861667 rs780455437 |
192 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593893978 CA387152480 |
195 | V>G | No |
ClinGen Ensembl |
|
|
RCV000519336 CA245188650 rs940128206 |
196 | C>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA6861668 rs749734291 |
197 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1283883860 CA387152511 |
198 | G>A | No |
ClinGen gnomAD |
|
|
CA387152515 rs1593893992 |
199 | Y>D | No |
ClinGen Ensembl |
|
|
rs1566278082 CA387152531 |
200 | T>A | No |
ClinGen Ensembl |
|
|
rs371858595 CA6861671 |
200 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6861674 rs776619252 COSM692500 RCV000434722 |
202 | V>M | lung Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6861675 rs759273432 |
204 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs143802431 CA387152589 |
205 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387152587 rs1439109126 |
205 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762894538 CA6861678 |
208 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387152651 rs1388667346 |
211 | L>V | No |
ClinGen gnomAD |
|
|
CA6861697 rs775345507 |
217 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA387152884 rs1296005189 |
218 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1273739957 CA387152894 |
220 | I>T | No |
ClinGen gnomAD |
|
|
CA6861699 rs763991801 |
220 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774222226 CA6861700 |
222 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA387152910 rs1323550639 |
222 | W>L | No |
ClinGen gnomAD |
|
|
CA6861701 rs761908912 |
223 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765326651 CA245193343 |
227 | I>T | No |
ClinGen Ensembl |
|
|
rs1464137715 CA387152950 |
228 | S>Y | No |
ClinGen gnomAD |
|
|
rs1430082834 CA387152969 |
230 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 231 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387153056 rs1450421746 |
237 | K>R | No |
ClinGen gnomAD |
|
|
rs750655607 CA6861703 |
239 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6861704 rs371794684 |
241 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156999805 CA387153115 |
242 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308767192 COSM3703939 CA387153841 |
247 | C>Y | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs144293398 CA245194596 |
248 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896574602 CA245194594 |
248 | H>Y | No |
ClinGen Ensembl |
|
|
rs1362266611 CA387153899 |
251 | P>H | No |
ClinGen gnomAD |
|
|
rs1251709722 CA387153893 |
251 | P>S | No |
ClinGen TOPMed |
|
|
RCV000487324 rs369952560 CA6861727 |
255 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1566282017 CA387153958 |
256 | A>P | No |
ClinGen Ensembl |
|
|
rs1254380887 CA387153979 |
257 | E>D | No |
ClinGen gnomAD |
|
|
rs116343742 CA6861729 |
257 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745357777 CA6861731 COSM202786 |
259 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
RCV000523731 CA6861734 rs199578524 |
260 | R>K | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA245194690 rs1043477659 |
263 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387154053 rs1442605108 |
264 | E>K | No |
ClinGen gnomAD |
|
|
CA387154080 rs1316176660 |
268 | T>I | No |
ClinGen gnomAD |
|
|
rs1316176660 CA387154079 |
268 | T>S | No |
ClinGen gnomAD |
|
|
CA6861739 rs773214209 |
269 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295585374 CA387154083 |
269 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387154092 rs1206772965 |
270 | I>M | No |
ClinGen gnomAD |
|
|
CA245194733 rs1040160504 |
271 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA245194757 rs946611542 |
273 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 274 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374546165 CA6861752 |
276 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778719933 CA6861754 |
277 | L>P | No |
ClinGen ExAC |
|
|
CA387154153 rs1486158713 |
278 | H>Q | No |
ClinGen gnomAD |
|
|
CA387154163 rs1593903103 |
280 | T>P | No |
ClinGen Ensembl |
|
|
CA6861757 rs777798260 |
281 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1479863431 CA387154182 |
282 | D>E | No |
ClinGen gnomAD |
|
|
CA6861758 rs746856615 |
283 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1375101575 CA387154196 |
284 | L>F | No |
ClinGen TOPMed |
|
|
CA387154194 rs1412784504 |
284 | L>W | No |
ClinGen TOPMed |
|
|
CA387154202 rs1158876903 |
285 | R>T | No |
ClinGen gnomAD |
|
|
CA387154206 rs759906846 |
286 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6861761 rs759906846 |
286 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA245197424 rs79544838 |
289 | C>* | No |
ClinGen Ensembl |
|
|
rs772170459 CA6861764 |
290 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77566350 CA245197429 |
291 | A>P | No |
ClinGen Ensembl |
|
|
CA6861765 rs764295967 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387154252 rs1566283027 |
293 | E>D | No |
ClinGen Ensembl |
|
|
rs368924297 CA6861767 |
293 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6861768 rs371533517 |
295 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371533517 CA387154260 |
295 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6861769 rs753314616 |
296 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1283317046 CA387154266 |
296 | Y>H | No |
ClinGen gnomAD |
|
|
CA387154282 rs1217674662 RCV000761847 |
298 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA6861771 rs754674753 |
298 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754674753 CA6861770 |
298 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA387154331 rs1566283064 |
305 | M>T | No |
ClinGen Ensembl |
|
|
rs1216813403 CA387154344 |
307 | A>T | No |
ClinGen TOPMed |
|
|
CA387154351 rs1270361342 |
308 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387154360 rs1376218738 |
309 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1408243805 CA387154378 |
311 | M>I | No |
ClinGen gnomAD |
|
|
CA6861773 rs758219106 |
311 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA6861775 rs747027944 |
314 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA387154394 rs1163079774 |
314 | M>V | No |
ClinGen gnomAD |
|
|
CA387154411 rs1425807271 |
316 | S>G | No |
ClinGen gnomAD |
|
|
CA387154412 rs1305042210 |
316 | S>N | No |
ClinGen gnomAD |
|
|
rs781377082 CA6861777 |
319 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861778 rs745924286 |
321 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387154447 rs1280427324 |
321 | N>S | No |
ClinGen gnomAD |
|
|
rs769951097 CA6861779 |
322 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6861780 RCV000431133 rs775855556 |
323 | C>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs749460352 CA6861781 |
325 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769120800 CA6861782 |
326 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA387154490 rs1359067300 COSM223609 |
328 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6861783 rs376626151 |
329 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387154504 rs1435629624 |
330 | C>S | No |
ClinGen gnomAD |
|
|
rs144949442 CA6861785 |
332 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 333 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6861787 rs759077965 |
333 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387154541 rs1182703898 |
335 | L>P | No |
ClinGen gnomAD |
|
|
rs757975697 CA6861790 |
337 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200463200 CA6861791 |
339 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74922060 CA6861792 |
339 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188879714 CA245197533 |
340 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs188879714 COSM936486 CA6861794 |
340 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1566283236 CA387154591 |
344 | E>D | No |
ClinGen Ensembl |
|
|
rs756272879 CA6861795 |
344 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861796 rs780264944 |
346 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398316505 CA387155271 |
348 | E>G | No |
ClinGen TOPMed |
|
|
rs762379798 CA6861827 |
349 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs773901488 CA6861829 |
352 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374873455 CA6861830 |
353 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA245200183 rs375589198 |
354 | P>L | No |
ClinGen Ensembl |
|
|
CA245200192 rs931810976 |
355 | S>P | No |
ClinGen Ensembl |
|
|
rs768248088 CA6861833 |
357 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861834 rs766434023 |
359 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA245200200 rs1008876089 |
359 | I>V | No |
ClinGen Ensembl |
|
|
CA6861835 rs753742915 |
360 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6861836 rs755044325 |
363 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1312942411 CA387155478 |
364 | E>* | No |
ClinGen gnomAD |
|
|
rs779001204 CA6861837 |
365 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6861840 rs147833091 |
367 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387155546 rs1017892678 |
367 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA245200213 rs1017892678 |
367 | P>R | No |
ClinGen TOPMed gnomAD |
|
| rs760459265 | 368 | T>L | Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA245200224 rs903419209 |
368 | T>S | No |
ClinGen Ensembl |
|
|
rs778174503 CA6861841 |
369 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141310219 CA6861843 |
369 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141310219 CA387155570 |
369 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141310219 CA6861842 |
369 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387155566 rs778174503 |
369 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262812298 CA387155572 |
370 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs778381327 CA6861845 |
371 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861844 rs778381327 |
371 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861848 rs764031063 |
373 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs201857139 CA6861850 |
374 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766237749 CA6861851 |
375 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1381866878 CA387155647 |
376 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6861854 rs370299179 |
377 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000502507 CA387155771 rs1555298342 |
383 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6861855 rs752815201 |
384 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373387853 CA6861857 |
386 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6861856 rs540159264 |
386 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs907555835 CA245200264 |
388 | V>A | No |
ClinGen Ensembl |
|
|
RCV001171666 rs1956634532 |
389 | G>R | No |
ClinVar dbSNP |
|
|
rs865923927 CA245200272 |
391 | Y>C | No |
ClinGen Ensembl |
|
|
CA387155991 rs1207696709 |
393 | E>D | No |
ClinGen TOPMed |
|
|
rs1381118341 CA387155969 |
393 | E>K | No |
ClinGen gnomAD |
|
|
rs746406797 CA6861861 |
394 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA245200282 rs372852652 |
397 | A>P | No |
ClinGen ESP |
|
|
CA6861874 rs763020903 |
400 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861875 rs572244179 |
400 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387156202 rs572244179 |
400 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577745729 CA245200412 |
401 | I>V | No |
ClinGen gnomAD |
|
|
CA6861876 rs150180405 |
402 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1489496494 CA387156254 |
404 | F>L | No |
ClinGen TOPMed |
|
|
CA6861877 rs370742954 |
404 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6861880 rs750788949 |
405 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861881 rs756378109 |
406 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6861882 rs780617314 |
407 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749773905 CA6861883 |
408 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484196299 CA387156367 |
409 | A>S | No |
ClinGen gnomAD |
|
|
CA387156376 rs1184647357 |
409 | A>V | No |
ClinGen gnomAD |
|
|
rs766987475 CA245200441 |
411 | M>L | No |
ClinGen TOPMed |
|
|
CA245200452 rs766987475 |
411 | M>V | No |
ClinGen TOPMed |
|
|
CA6861887 rs770611939 |
416 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746697998 CA6861886 |
416 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776345193 CA6861888 |
417 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs564081274 CA6861889 |
426 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387156670 rs1363341385 |
426 | L>P | No |
ClinGen gnomAD |
|
|
CA387156704 rs1388974969 |
429 | V>M | No |
ClinGen TOPMed |
|
|
rs775434764 CA6861891 |
431 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775434764 CA387156735 |
431 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6861893 rs762824038 |
433 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6861894 rs764202775 |
434 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6861895 rs774414697 |
435 | P>H | No |
ClinGen ExAC |
|
|
CA245200473 rs755746859 |
435 | P>S | No |
ClinGen Ensembl |
|
|
rs1224284278 CA387156804 |
437 | L>V | No |
ClinGen gnomAD |
|
|
CA387156833 rs1392266963 |
439 | Q>R | No |
ClinGen TOPMed |
|
|
CA6861896 rs762001622 |
440 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA387156841 rs1457118320 |
440 | S>P | No |
ClinGen TOPMed |
|
|
CA387156852 rs1400548964 |
441 | Q>E | No |
ClinGen TOPMed |
|
|
rs767795849 CA6861897 |
442 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149386812 CA245200672 |
446 | M>I | No |
ClinGen ESP |
|
| TCGA novel | 448 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774218920 CA6861913 |
449 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs144722947 CA6861914 |
451 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA245200679 rs907470146 |
451 | R>W | No |
ClinGen TOPMed |
|
|
rs772007509 CA387157355 |
452 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA6861915 rs772007509 |
452 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA245200680 rs911881776 |
453 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA245200688 rs940156413 |
457 | M>T | No |
ClinGen Ensembl |
|
|
rs1365502265 CA387157442 |
458 | G>E | No |
ClinGen gnomAD |
|
|
CA387157447 rs1237294377 |
459 | L>M | No |
ClinGen TOPMed |
|
|
rs1425437024 CA387157453 |
459 | L>P | No |
ClinGen gnomAD |
|
|
CA387157459 rs1353010546 |
460 | F>V | No |
ClinGen gnomAD |
|
|
rs1352578310 CA387157486 |
461 | S>L | No |
ClinGen TOPMed |
|
|
rs766889884 CA6861918 |
462 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537270055 CA6861920 |
464 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1312882351 CA387157546 |
466 | L>F | No |
ClinGen gnomAD |
|
|
RCV000518196 rs1555298476 CA387157586 |
467 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753076012 CA6861922 |
467 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387157594 rs1566287308 |
468 | Y>C | No |
ClinGen Ensembl |
|
|
CA387157688 rs1434213831 |
473 | S>L | No |
ClinGen Ensembl |
|
|
rs1203307324 CA387157720 |
475 | S>A | No |
ClinGen gnomAD |
|
|
CA6861925 rs755721045 |
477 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387157763 rs1593911273 |
478 | L>P | No |
ClinGen Ensembl |
|
|
rs371291658 CA6861927 |
480 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296470100 CA387157796 |
480 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA387157820 rs1473390485 |
481 | S>C | No |
ClinGen gnomAD |
|
|
rs1165081197 CA387157828 |
482 | G>R | No |
ClinGen gnomAD |
|
|
rs1409440584 CA387157894 |
485 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs772243367 CA6861931 |
488 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6861930 rs747987064 |
488 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861932 rs773134232 |
489 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761024266 CA6861933 |
490 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA245200807 rs1005554236 |
494 | P>L | No |
ClinGen TOPMed |
|
|
rs1258348496 CA387158099 |
495 | P>S | No |
ClinGen gnomAD |
|
|
rs143142641 CA387158111 |
496 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6861938 rs763343555 |
498 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000995002 rs1240866102 CA387158156 |
499 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA387158194 rs1218982978 |
501 | M>R | No |
ClinGen TOPMed |
|
|
CA387158192 rs1218982978 |
501 | M>T | No |
ClinGen TOPMed |
|
|
CA6861940 rs767125571 |
502 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs990227419 CA245200850 |
503 | L>F | No |
ClinGen gnomAD |
|
|
rs990227419 CA387158217 |
503 | L>I | No |
ClinGen gnomAD |
|
|
CA387158303 rs7135542 |
505 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1298292526 CA387158313 |
506 | D>H | No |
ClinGen gnomAD |
|
|
CA387158338 rs1402552619 |
507 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763576273 CA6861956 |
508 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760212304 RCV000594358 CA6861959 |
509 | V>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs148263447 CA6861958 |
509 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387158377 rs1217911686 |
510 | R>I | No |
ClinGen gnomAD |
|
|
CA387158399 rs1489898792 |
512 | N>D | No |
ClinGen gnomAD |
|
|
CA6861960 rs368098080 |
513 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387158423 rs913063026 |
513 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6861961 rs753537705 |
513 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1200738744 CA387158436 |
514 | I>V | No |
ClinGen gnomAD |
|
|
CA387158479 rs1361791959 |
516 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA245200981 rs200768640 |
520 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861962 rs200768640 |
520 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861965 rs765145096 |
521 | I>T | No |
ClinGen ExAC |
|
|
CA387158574 rs1398562082 |
521 | I>V | No |
ClinGen TOPMed |
|
|
rs867727158 CA387158591 |
522 | P>A | No |
ClinGen TOPMed |
|
|
CA6861968 rs371908109 |
522 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867727158 CA245200990 COSM135614 |
522 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA387158643 rs1292390548 |
525 | F>L | No |
ClinGen gnomAD |
|
|
CA6861969 rs777574912 |
526 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6861970 rs777574912 |
526 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757432786 CA6861971 |
526 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA387158649 rs757432786 |
526 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387158667 rs1566287689 |
527 | G>D | No |
ClinGen Ensembl |
|
|
rs1040068549 CA245201007 |
528 | P>L | No |
ClinGen Ensembl |
|
|
CA387158708 rs1173890942 |
530 | P>T | No |
ClinGen TOPMed |
|
|
CA387158785 rs1251774337 |
533 | I>T | No |
ClinGen TOPMed |
|
|
rs746129120 CA6861974 |
533 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 534 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 535 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750546795 CA6861992 |
538 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs938149097 CA245202413 |
539 | L>S | No |
ClinGen gnomAD |
|
|
CA6861994 rs780174509 |
541 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150520079 CA6861995 |
542 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6861996 rs768951745 |
543 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779217471 CA6861997 |
543 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387159624 rs779217471 |
543 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6861998 rs553756926 |
548 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | F>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA245202432 rs916424606 |
550 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 552 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465782543 CA387159765 |
552 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA245202433 rs375553582 |
554 | M>L | No |
ClinGen ESP TOPMed |
|
|
rs773649126 CA6862000 |
554 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs368905954 CA6862002 |
555 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6862001 rs368905954 |
555 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751393183 CA6862006 |
556 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs139454557 CA387159843 CA6862005 |
556 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6862007 rs761646423 |
559 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA387159901 rs1341361649 |
561 | I>V | No |
ClinGen gnomAD |
|
|
CA6862009 rs750350373 |
564 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1261479525 CA387159978 |
565 | F>S | No |
ClinGen gnomAD |
|
|
CA387160002 rs1448654002 |
567 | V>A | No |
ClinGen TOPMed |
|
|
rs1256565761 CA387160016 |
568 | I>T | No |
ClinGen gnomAD |
|
|
CA387160010 rs1209124197 |
568 | I>V | No |
ClinGen gnomAD |
|
|
rs934681310 CA245202456 |
569 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1184289706 CA387160053 |
571 | I>M | No |
ClinGen gnomAD |
|
|
rs540882206 CA6862012 |
572 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387160059 rs1449761050 |
572 | F>S | No |
ClinGen TOPMed |
|
|
CA387160069 rs1289324244 |
573 | N>D | No |
ClinGen TOPMed |
|
|
rs755225518 CA6862013 |
574 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387160282 rs1237652661 |
575 | L>F | No |
ClinGen gnomAD |
|
|
rs1195484607 CA387160120 |
575 | L>W | No |
ClinGen gnomAD |
|
|
rs752876687 CA6862036 |
576 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs752876687 CA245202962 |
576 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6862037 rs758783572 |
577 | F>C | No |
ClinGen ExAC gnomAD |
|
|
COSM69767 rs1416379430 CA387160309 |
578 | R>K | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 580 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387160759 rs1206699816 |
582 | N>D | No |
ClinGen TOPMed |
|
|
CA387160769 rs1566289932 |
582 | N>S | No |
ClinGen Ensembl |
|
|
rs951060440 CA245202972 |
589 | P>S | No |
ClinGen Ensembl |
|
|
rs868004152 CA245202983 |
591 | L>F | No |
ClinGen gnomAD |
|
|
rs868004152 CA387160961 |
591 | L>V | No |
ClinGen gnomAD |
|
|
CA245202997 rs1000621967 |
594 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 599 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748838327 CA6862042 |
601 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6862043 rs748838327 |
601 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406023742 CA387161130 |
602 | I>M | No |
ClinGen gnomAD |
|
|
CA6862045 rs774174015 |
602 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387161147 rs1167221378 |
604 | M>I | No |
ClinGen gnomAD |
|
|
rs747784474 CA6862046 |
606 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA245203009 rs942181771 |
608 | K>E | No |
ClinGen gnomAD |
|
|
rs141345960 CA6862047 |
611 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6862048 rs773055246 |
611 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1566290051 CA387161197 |
612 | F>Y | No |
ClinGen Ensembl |
|
|
rs766354816 CA387161205 |
613 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766354816 CA6862050 |
613 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387161204 rs1319152311 |
613 | S>P | No |
ClinGen TOPMed |
|
|
rs1593915111 CA387161221 |
616 | T>P | No |
ClinGen Ensembl |
|
|
CA16042888 RCV000413466 rs1057518488 |
618 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs759691777 CA6862052 |
619 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA387161257 rs1291644458 |
621 | P>L | No |
ClinGen gnomAD |
|
|
CA245203027 rs973777451 |
621 | P>S | No |
ClinGen Ensembl |
|
|
CA245203034 rs921030402 |
622 | S>N | No |
ClinGen TOPMed |
|
|
CA387161292 rs1459174888 |
624 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 627 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387161324 rs1207935541 |
627 | F>I | No |
ClinGen Ensembl |
|
|
rs762135606 CA6862055 |
629 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 629 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762135606 CA6862054 |
629 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862056 rs764505206 |
630 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1459491866 CA387161382 |
631 | F>V | No |
ClinGen gnomAD |
|
|
rs751936760 CA387161407 |
633 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186132197 CA387161401 |
633 | F>L | No |
ClinGen gnomAD |
|
|
rs751936760 CA6862057 |
633 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862058 rs757503010 |
635 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA387161434 rs1183622799 |
636 | S>G | No |
ClinGen gnomAD |
|
|
CA387161510 rs1446327300 |
639 | S>T | No |
ClinGen TOPMed |
|
|
CA6862059 rs545859716 |
641 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1465234613 CA387161593 |
643 | T>A | No |
ClinGen gnomAD |
|
|
rs1169708799 CA387161597 |
643 | T>K | No |
ClinGen gnomAD |
|
|
CA6862061 rs200340802 |
645 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249075329 CA387162820 |
646 | E>D | No |
ClinGen TOPMed |
|
|
CA6862082 rs756685736 |
649 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA387162878 rs1566291407 |
650 | R>T | No |
ClinGen Ensembl |
|
|
rs1227464112 CA387162924 |
654 | V>A | No |
ClinGen gnomAD |
|
|
CA6862085 rs143178672 |
661 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901929976 CA245204090 |
663 | L>H | No |
ClinGen TOPMed |
|
|
CA6862087 rs746591190 |
668 | P>S | No |
ClinGen ExAC |
|
|
rs1478226626 CA387163025 |
671 | L>V | No |
ClinGen gnomAD |
|
|
rs1378380031 CA387163051 |
674 | L>P | No |
ClinGen gnomAD |
|
|
rs75755543 CA6862090 |
675 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs75755543 CA245204100 |
675 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769702009 CA6862091 |
676 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763022700 CA6862093 |
676 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760104669 CA6862092 |
676 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387163067 rs1555299234 RCV000523013 |
677 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs148307049 CA6862094 |
678 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6862097 rs761913726 |
678 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761913726 CA6862096 |
678 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862095 rs148307049 |
678 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750804252 CA6862098 |
679 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6862100 rs766998428 |
682 | G>R | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387163117 rs1593917556 |
683 | V>G | No |
ClinGen Ensembl |
|
|
CA6862101 rs754359121 |
683 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6862102 rs567523797 |
685 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750034680 CA6862125 |
687 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs200956453 CA6862127 |
688 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs755953758 CA6862126 |
688 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6862128 rs749293749 |
689 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1217095088 CA387163373 |
689 | T>S | No |
ClinGen TOPMed |
|
|
rs778852157 CA6862130 |
690 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs887826148 CA245204773 |
691 | I>L | No |
ClinGen TOPMed |
|
|
CA387163461 rs1566292114 |
693 | K>E | No |
ClinGen Ensembl |
|
|
rs1286034823 CA387163507 |
694 | D>E | No |
ClinGen TOPMed |
|
|
COSM1660693 CA387163501 rs1395556746 |
694 | D>V | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6862134 rs772153040 |
696 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs193006423 CA245204798 |
697 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1340124692 CA387163568 |
698 | E>K | No |
ClinGen TOPMed |
|
|
rs1593918822 CA387163592 |
699 | V>G | No |
ClinGen Ensembl |
|
|
CA6862136 rs747210661 |
703 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862137 rs771460920 |
704 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1359001964 CA387163686 |
705 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6862140 rs765673040 |
707 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862139 rs760143170 |
707 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1015030602 CA245204838 |
708 | E>G | No |
ClinGen TOPMed |
|
|
CA6862141 rs145709161 |
709 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1416499495 CA387163891 |
711 | N>Y | No |
ClinGen TOPMed |
|
|
CA387163961 rs1482214964 |
712 | H>Q | No |
ClinGen gnomAD |
|
|
CA387163994 rs1199395583 |
713 | Q>R | No |
ClinGen gnomAD |
|
|
rs1462135626 CA387164097 |
716 | D>H | No |
ClinGen Ensembl |
|
|
rs766993831 CA6862143 |
717 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs964455458 CA245204869 |
719 | R>G | No |
ClinGen Ensembl |
|
|
CA387164255 rs1451527972 |
721 | M>I | No |
ClinGen gnomAD |
|
|
CA6862145 rs755762890 |
721 | M>V | No |
ClinGen ExAC |
|
|
rs766224435 CA6862146 |
722 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6862148 rs201325140 |
723 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201325140 CA387164289 COSM1470605 |
723 | C>Y | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs778749017 CA6862149 |
724 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6862172 rs751698448 |
729 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757336591 CA6862173 |
731 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781298382 CA6862174 |
733 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs746051694 CA6862175 |
734 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 736 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387156063 rs1257967631 |
736 | V>L | No |
ClinGen TOPMed |
|
|
rs1488385854 CA387156107 |
739 | S>A | No |
ClinGen gnomAD |
|
|
CA387156126 rs770098416 |
740 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387156120 rs1484665829 |
740 | I>V | No |
ClinGen TOPMed |
|
|
COSM3416585 rs1255472515 CA387156134 |
741 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1438314966 CA387156165 |
742 | Y>C | No |
ClinGen gnomAD |
|
|
rs1566293208 CA387156180 |
743 | C>S | No |
ClinGen Ensembl |
|
|
rs150508296 CA6862179 |
743 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387156193 rs1238596757 |
744 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 750 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 752 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387156333 rs1444545744 |
753 | Y>C | No |
ClinGen gnomAD |
|
|
CA6862184 rs752522705 |
764 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6862210 rs754014350 |
765 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 772 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001092699 rs1956768742 |
772 | A>P | No |
ClinVar dbSNP |
|
|
rs1414836585 CA387157883 |
773 | M>L | No |
ClinGen gnomAD |
|
|
CA387157889 rs1314382494 |
773 | M>T | No |
ClinGen gnomAD |
|
|
CA6862213 rs748718383 |
776 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862214 rs758922111 |
776 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758922111 CA387157959 |
776 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144828090 CA245165847 |
777 | V>E | No |
ClinGen ESP TOPMed |
|
|
rs745384450 CA6862218 |
777 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745384450 CA6862217 |
777 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775303560 CA6862219 |
778 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA387157991 rs1289485537 |
779 | L>V | No |
ClinGen gnomAD |
|
|
CA6862224 rs767495427 |
781 | V>I | No |
ClinGen ExAC |
|
|
rs772983149 CA6862225 |
782 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488046163 CA387158075 |
784 | T>S | No |
ClinGen gnomAD |
|
|
rs1300082047 CA387158085 |
785 | Y>C | No |
ClinGen TOPMed |
|
|
rs374221951 CA6862226 |
787 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6862227 rs148617403 |
789 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394385186 CA387158137 |
790 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387158130 rs1593923574 |
790 | L>V | No |
ClinGen Ensembl |
|
|
CA6862231 rs753070826 |
792 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862230 rs765645222 |
792 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA245165914 rs983180928 |
793 | V>F | No |
ClinGen TOPMed |
|
|
rs1390474120 CA387158179 |
794 | I>M | No |
ClinGen TOPMed |
|
|
rs778371523 CA6862233 |
795 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387158197 rs1191515167 |
796 | L>P | No |
ClinGen TOPMed |
|
|
CA387158232 rs1274795206 |
799 | V>D | No |
ClinGen gnomAD |
|
|
rs145125816 CA6862237 |
801 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145125816 CA6862236 |
801 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA245165926 rs962471385 |
802 | I>F | No |
ClinGen Ensembl |
|
|
CA387158283 rs1414004996 |
804 | I>M | No |
ClinGen gnomAD |
|
|
rs768437787 CA6862238 |
806 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6862239 rs778642108 |
811 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs773253639 CA245165939 |
816 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201598201 CA6862242 |
817 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 818 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA245165942 rs539507638 |
819 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1388861708 CA387158469 |
819 | R>L | No |
ClinGen TOPMed |
|
|
CA6862243 rs771068693 |
820 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776676999 CA6862244 |
821 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6862270 rs759639949 |
822 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA387158705 rs1566295306 |
823 | V>E | No |
ClinGen Ensembl |
|
|
rs769811956 CA6862271 |
823 | V>I | No |
ClinGen ExAC |
|
|
rs763054691 CA387158733 |
824 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387158804 rs1395765476 |
827 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs866033263 CA245166470 |
827 | N>K | No |
ClinGen Ensembl |
|
|
CA387158854 rs1463318138 |
829 | F>L | No |
ClinGen gnomAD |
|
|
CA6862276 rs762202627 |
831 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs774595060 CA6862275 |
831 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387158873 rs1309151924 |
832 | G>S | No |
ClinGen gnomAD |
|
|
CA6862277 rs768170117 |
833 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1232963568 CA387158894 |
834 | G>D | No |
ClinGen gnomAD |
|
|
CA6862278 rs567561863 |
835 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 837 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387158949 rs1234851642 |
838 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1234851642 CA387158945 |
838 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs140818195 CA6862280 |
839 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6862281 rs752463630 |
842 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6862282 rs757975783 |
844 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746781216 CA6862284 |
845 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387159053 CA6862285 rs757001815 |
846 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA387159056 rs757001815 |
846 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1225705374 CA387159099 |
850 | N>D | No |
ClinGen TOPMed |
|
|
CA6862293 rs767971908 |
853 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1400208410 CA387159145 |
853 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6862295 rs773898986 |
854 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs773898986 CA6862294 |
854 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6862296 rs773898986 |
854 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs752164656 CA6862297 |
856 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1234905832 CA387159205 |
857 | A>W | No |
ClinGen gnomAD |
2 associated diseases with Q9Y487
[MIM: 219200]: Cutis laxa, autosomal recessive, 2A (ARCL2A)
A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. {ECO:0000269|PubMed:18157129}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 278250]: Wrinkly skin syndrome (WSS)
A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. {ECO:0000269|PubMed:18157129}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. {ECO:0000269|PubMed:18157129}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. {ECO:0000269|PubMed:18157129}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9Y487
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y487 | |||
13 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. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| proton-transporting V-type ATPase complex | A proton-transporting two-sector ATPase complex that couples ATP hydrolysis to the transport of protons across a concentration gradient. The resulting transmembrane electrochemical potential of H+ is used to drive a variety of (i) secondary active transport systems via H+-dependent symporters and antiporters and (ii) channel-mediated transport systems. The complex comprises a membrane sector (V0) that carries out proton transport and a cytoplasmic compartment sector (V1) that catalyzes ATP hydrolysis. V-type ATPases are found in the membranes of organelles such as vacuoles, endosomes, and lysosomes, and in the plasma membrane. |
| vacuolar proton-transporting V-type ATPase complex | A proton-transporting two-sector ATPase complex found in the vacuolar membrane, where it acts as a proton pump to mediate acidification of the vacuolar lumen. |
| vacuolar proton-transporting V-type ATPase, V0 domain | The V0 domain of a proton-transporting V-type ATPase found in the vacuolar membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| proton-transporting ATPase activity, rotational mechanism | Enables the transfer of protons from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) = ADP + phosphate + H+(out), by a rotational mechanism. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. |
| cellular response to increased oxygen levels | 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 reflecting an increase in the level of oxygen. |
| Golgi lumen acidification | Any process that reduces the pH of the Golgi lumen, measured by the concentration of the hydrogen ion. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of macroautophagy | Any process that modulates the frequency, rate or extent of macroautophagy. |
| vacuolar acidification | Any process that reduces the pH of the vacuole, measured by the concentration of the hydrogen ion. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32563 | VPH1 | V-type proton ATPase subunit a, vacuolar isoform | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q29466 | ATP6V0A1 | V-type proton ATPase 116 kDa subunit a 1 | Bos taurus (Bovine) | PR |
| O97681 | ATP6V0A2 | V-type proton ATPase 116 kDa subunit a 2 | Bos taurus (Bovine) | PR |
| Q9I8D0 | ATP6V0A1 | V-type proton ATPase 116 kDa subunit a 1 | Gallus gallus (Chicken) | PR |
| Q9HBG4 | ATP6V0A4 | V-type proton ATPase 116 kDa subunit a 4 | Homo sapiens (Human) | PR |
| Q13488 | TCIRG1 | V-type proton ATPase 116 kDa subunit a 3 | Homo sapiens (Human) | PR |
| Q93050 | ATP6V0A1 | V-type proton ATPase 116 kDa subunit a 1 | Homo sapiens (Human) | PR |
| Q920R6 | Atp6v0a4 | V-type proton ATPase 116 kDa subunit a 4 | Mus musculus (Mouse) | PR |
| Q9Z1G4 | Atp6v0a1 | V-type proton ATPase 116 kDa subunit a 1 | Mus musculus (Mouse) | PR |
| P15920 | Atp6v0a2 | V-type proton ATPase 116 kDa subunit a 2 | Mus musculus (Mouse) | PR |
| P25286 | Atp6v0a1 | V-type proton ATPase 116 kDa subunit a 1 | Rattus norvegicus (Rat) | PR |
| P30628 | unc-32 | V-type proton ATPase 116 kDa subunit a 1 | Caenorhabditis elegans | PR |
| Q8RWZ7 | VHA-a1 | V-type proton ATPase subunit a1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4S4 | VHA-a3 | V-type proton ATPase subunit a3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJT7 | VHA-a2 | V-type proton ATPase subunit a2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A1A5G6 | atp6v0a1 | V-type proton ATPase 116 kDa subunit a 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSLFRSETM | CLAQLFLQSG | TAYECLSALG | EKGLVQFRDL | NQNVSSFQRK | FVGEVKRCEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LERILVYLVQ | EINRADIPLP | EGEASPPAPP | LKQVLEMQEQ | LQKLEVELRE | VTKNKEKLRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLLELIEYTH | MLRVTKTFVK | RNVEFEPTYE | EFPSLESDSL | LDYSCMQRLG | AKLGFVSGLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NQGKVEAFEK | MLWRVCKGYT | IVSYAELDES | LEDPETGEVI | KWYVFLISFW | GEQIGHKVKK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ICDCYHCHVY | PYPNTAEERR | EIQEGLNTRI | QDLYTVLHKT | EDYLRQVLCK | AAESVYSRVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QVKKMKAIYH | MLNMCSFDVT | NKCLIAEVWC | PEADLQDLRR | ALEEGSRESG | ATIPSFMNII |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PTKETPPTRI | RTNKFTEGFQ | NIVDAYGVGS | YREVNPALFT | IITFPFLFAV | MFGDFGHGFV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MFLFALLLVL | NENHPRLNQS | QEIMRMFFNG | RYILLLMGLF | SVYTGLIYND | CFSKSVNLFG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SGWNVSAMYS | SSHPPAEHKK | MVLWNDSVVR | HNSILQLDPS | IPGVFRGPYP | LGIDPIWNLA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TNRLTFLNSF | KMKMSVILGI | IHMTFGVILG | IFNHLHFRKK | FNIYLVSIPE | LLFMLCIFGY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LIFMIFYKWL | VFSAETSRVA | PSILIEFINM | FLFPASKTSG | LYTGQEYVQR | VLLVVTALSV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PVLFLGKPLF | LLWLHNGRSC | FGVNRSGYTL | IRKDSEEEVS | LLGSQDIEEG | NHQVEDGCRE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MACEEFNFGE | ILMTQVIHSI | EYCLGCISNT | ASYLRLWALS | LAHAQLSDVL | WAMLMRVGLR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VDTTYGVLLL | LPVIALFAVL | TIFILLIMEG | LSAFLHAIRL | HWVEFQNKFY | VGAGTKFVPF |
| 850 | |||||
| SFSLLSSKFN | NDDSVA |