Q9NW15
PR
Gene name |
ANO10 (TMEM16K) |
Protein name |
Anoctamin-10 |
Names |
Transmembrane protein 16K |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55129 |
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
587 variants for Q9NW15
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2341152 RCV000302734 rs112040665 RCV000972700 RCV001287982 |
25 | Q>P | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000518658 rs758937084 RCV000500094 |
33 | E>missing | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747139453 RCV001149463 |
43 | K>E | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000311100 rs540331226 RCV000149437 RCV000825557 RCV001814069 |
45 | D>missing | Autosomal recessive spinocerebellar ataxia 10 Autosomal recessive cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198167 rs191413952 RCV001552630 CA2341107 |
75 | S>T | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2341104 RCV001149462 RCV001664708 RCV002557214 rs201275096 |
79 | M>R | Autosomal recessive spinocerebellar ataxia 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001644702 RCV000598963 rs772345347 |
96 | T>* | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1210764379 RCV000501690 CA352345910 |
102 | Y>* | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs373386030 CA2341027 RCV000516772 RCV000778699 |
171 | F>S | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886058481 RCV000382211 |
206 | E>missing | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10616402 RCV000291253 rs886058480 |
211 | Y>C | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000383366 rs188443010 CA2340970 |
226 | A>T | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001287983 RCV001147923 RCV001724255 CA2340947 rs41289586 |
263 | R>H | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM188738 CA2340946 rs375470443 RCV000710542 RCV002534488 |
264 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001147922 CA2340944 RCV000898863 rs143322256 |
267 | N>D | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2340943 RCV001147921 rs372215383 |
268 | M>V | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001287984 RCV003163329 CA2340936 rs374795191 RCV001147920 |
279 | R>S | Autosomal recessive spinocerebellar ataxia 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs767044966 CA2340933 RCV001147036 |
285 | R>W | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375157457 CA2340930 RCV001147035 |
286 | P>L | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2081034644 RCV001329041 |
294 | I>M | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000517762 RCV002527454 CA2340916 rs747769148 |
313 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146569520 RCV002520121 CA2340908 RCV000415975 RCV000613613 |
327 | Y>C | Autosomal recessive spinocerebellar ataxia 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001644964 rs1227163239 CA352343382 RCV001267936 |
337 | F>V | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001495302 rs187425614 RCV000296386 CA2340901 |
338 | D>N | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000995493 rs1405576707 CA352343345 |
342 | W>* | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000116350 CA151821 RCV000991519 rs56389778 RCV000606579 |
356 | S>G | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2340883 RCV000710538 RCV001643046 RCV000764506 rs61732728 |
378 | R>Q | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA213095 RCV000149439 rs144272231 |
382 | E>* | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000024052 rs794726680 RCV001268891 |
384 | L>missing | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768830099 RCV001147034 CA2340823 |
426 | M>T | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1161460 RCV001145079 CA2340821 rs200570277 |
430 | R>C | Autosomal recessive spinocerebellar ataxia 10 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10615844 rs745940196 RCV000265866 |
447 | M>L | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000613942 RCV000991521 CA151823 rs3772165 VAR_032638 RCV000116351 |
462 | R>Q | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001149374 rs145543748 CA2340748 |
498 | Y>C | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000024051 CA129639 VAR_064888 rs387907089 |
510 | L>R | Autosomal recessive spinocerebellar ataxia 10 SCAR10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000824896 CA352342099 rs1575415900 |
513 | C>R | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2079693628 RCV001254060 |
518 | A>missing | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2340739 RCV001418862 RCV000364208 rs150026260 |
520 | A>V | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000307319 CA10615842 rs886058477 |
532 | S>L | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794726681 RCV000024054 |
534 | A>* | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000392732 CA2340731 COSM583815 rs372086237 |
543 | R>H | lung Variant assessed as Somatic; 0.0 impact. Autosomal recessive spinocerebellar ataxia 10 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2340728 RCV001149373 rs538680619 |
548 | P>H | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001711378 VAR_032639 rs17409162 RCV000606923 RCV000116352 CA151825 |
561 | T>M | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761659935 RCV000352819 COSM77269 CA2340659 |
606 | K>R | ovary large_intestine Autosomal recessive spinocerebellar ataxia 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV002514864 CA213094 RCV001815207 rs138000380 RCV000149438 |
615 | D>N | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141806947 CA2340646 RCV001660718 RCV000295590 |
622 | M>V | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001147834 RCV001644862 CA2340606 rs147989825 RCV000918162 |
652 | M>V | Autosomal recessive spinocerebellar ataxia 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000414687 rs531656357 |
1 | M>T | No |
ClinVar dbSNP |
|
|
rs569513041 CA2341162 |
2 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569513041 CA74381136 |
2 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1224724929 CA352346763 |
4 | T>A | No |
ClinGen gnomAD |
|
|
rs148379456 CA2341161 |
4 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352346746 rs1575532172 |
7 | A>T | No |
ClinGen Ensembl |
|
|
CA2341158 rs760258515 |
8 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1319840495 CA352346727 |
9 | D>E | No |
ClinGen gnomAD |
|
|
CA352346730 rs1440775672 |
9 | D>G | No |
ClinGen gnomAD |
|
|
CA74381135 rs781738943 |
10 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352346723 rs781738943 |
10 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1427923811 CA352346708 |
12 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352346695 rs1318496503 |
14 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 14 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352346691 rs1481416117 |
15 | F>V | No |
ClinGen gnomAD |
|
|
rs752153100 CA2341157 |
15 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2341156 rs767042941 |
16 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1210761454 CA352346673 |
18 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352346668 rs1460139131 |
19 | V>M | No |
ClinGen gnomAD |
|
|
rs1283037381 CA352346652 |
21 | I>T | No |
ClinGen TOPMed |
|
|
CA352346627 rs1314514015 |
25 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1418351840 CA352346617 |
26 | D>V | No |
ClinGen gnomAD |
|
|
rs771400535 CA2341151 |
27 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2341150 rs147056478 |
29 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2341149 rs147605535 RCV001287985 |
30 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1450088823 CA352346582 |
31 | T>N | No |
ClinGen gnomAD |
|
|
CA352346559 rs1352711563 |
34 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74381131 rs200605930 |
37 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352346519 rs1267879663 |
40 | I>T | No |
ClinGen TOPMed |
|
|
CA74381129 rs1005467642 |
40 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352346516 rs1443049398 |
41 | A>T | No |
ClinGen gnomAD |
|
|
rs768831597 RCV000521272 CA2341144 |
42 | K>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
CA352346509 rs768831597 |
42 | K>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 42 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747139453 CA2341143 |
43 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484256080 CA352346499 |
43 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778985357 CA2341142 |
43 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2341141 rs753610894 |
44 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753610894 CA2341140 |
44 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204374184 CA352346494 |
44 | K>I | No |
ClinGen gnomAD |
|
|
COSM1580064 rs928206763 CA352346485 |
45 | D>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1366535388 CA352346477 |
47 | G>S | No |
ClinGen TOPMed |
|
|
RCV000710540 rs761124350 |
53 | R>missing | No |
ClinVar dbSNP |
|
|
CA2341112 rs751016635 |
59 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484317159 CA352346336 |
60 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 62 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352276222 CA352346290 |
64 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1575522134 CA352346287 |
65 | E>K | No |
ClinGen Ensembl |
|
|
rs750866985 CA2341109 |
69 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1450276079 CA352346234 |
70 | Y>F | No |
ClinGen TOPMed |
|
|
rs1365903662 CA352346236 |
70 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352346207 rs1459703958 |
73 | G>S | No |
ClinGen gnomAD |
|
|
rs191413952 CA352346188 |
75 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769095178 RCV000516700 CA2341106 |
75 | S>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA74380615 rs1022274476 |
76 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 79 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139217098 CA2341103 |
85 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352346066 rs1322982038 |
87 | G>R | No |
ClinGen TOPMed |
|
|
rs1197820997 CA352346058 |
88 | L>S | No |
ClinGen gnomAD |
|
|
rs867113970 CA74380613 |
89 | V>I | No |
ClinGen Ensembl |
|
|
CA2341102 rs772013556 |
90 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs775536114 | 90 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2341100 rs374493898 |
93 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302636022 CA352346000 |
94 | D>G | No |
ClinGen TOPMed |
|
|
rs374852259 CA2341098 |
94 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747871734 CA2341097 |
97 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237006424 CA352345973 |
97 | M>V | No |
ClinGen TOPMed |
|
|
rs780981972 CA2341095 |
98 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA352345940 rs1222891877 |
99 | A>G | No |
ClinGen gnomAD |
|
|
rs1029970289 CA74380611 |
100 | F>S | No |
ClinGen Ensembl |
|
|
rs754580837 CA2341093 RCV000991525 |
102 | Y>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs186982098 CA2341092 |
103 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 103 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370365121 CA2341091 |
103 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74380610 rs900268151 |
104 | T>S | No |
ClinGen Ensembl |
|
|
rs1575521714 CA352345889 |
105 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352345831 rs1457842057 |
110 | G>D | No |
ClinGen gnomAD |
|
|
CA74380609 rs750013678 |
111 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750013678 CA2341089 |
111 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377748378 CA74380415 |
113 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368503750 CA74380608 |
113 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs1486788304 CA352345720 |
114 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs146351198 CA74380414 |
115 | N>S | No |
ClinGen ESP gnomAD |
|
|
rs771064874 RCV000517644 |
115 | N>missing | No |
ClinVar dbSNP |
|
|
CA2341077 rs776374646 |
115 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352345713 rs776374646 |
115 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352345695 rs768410853 |
116 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768410853 CA2341075 |
116 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746873948 CA2341074 |
121 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1372928673 CA352345639 |
121 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1460797558 CA352345641 |
121 | M>V | No |
ClinGen gnomAD |
|
|
CA352345621 rs1450991883 |
122 | A>G | No |
ClinGen gnomAD |
|
|
rs1240864743 CA352345618 |
123 | E>K | No |
ClinGen gnomAD |
|
|
rs745311004 CA2341072 COSM1044891 |
127 | I>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1280657062 CA352345560 |
127 | I>N | No |
ClinGen gnomAD |
|
|
rs745311004 CA2341071 |
127 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1575517647 CA352345553 |
128 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778506622 RCV000762110 CA2341070 |
131 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2341069 rs374398458 |
132 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778472099 CA2341067 |
133 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2341068 rs571983239 |
133 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756534691 CA2341066 |
135 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2341065 rs753174628 |
136 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs113559444 CA74380413 |
139 | D>N | No |
ClinGen Ensembl |
|
|
CA352345446 rs1341078381 RCV000991526 |
139 | D>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs767569407 CA2341064 |
140 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200797513 CA2341063 |
141 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 142 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751548135 CA2341062 |
142 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139932436 CA2341060 |
143 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2341058 rs768644165 |
144 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74380412 rs148079312 |
144 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148079312 CA2341057 |
144 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2341056 rs143065421 |
145 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1454909746 CA352345377 |
146 | Y>* | No |
ClinGen TOPMed |
|
|
CA352345379 rs1238767784 |
146 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2341055 rs771572225 |
147 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA74380411 rs760118437 |
147 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 152 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770541130 CA2341052 |
152 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2341051 rs748864352 |
153 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286072529 CA352345276 |
157 | L>* | No |
ClinGen gnomAD |
|
|
CA2341036 rs774131560 |
159 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA352344653 rs1315699224 |
159 | R>K | No |
ClinGen gnomAD |
|
|
CA352344638 rs1437434032 |
161 | L>W | No |
ClinGen TOPMed |
|
|
CA2341034 rs201340219 |
163 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201340219 CA2341033 |
163 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2341031 rs748723990 |
165 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755350106 CA2341029 |
167 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755350106 CA352344607 |
167 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200844849 CA74378334 |
168 | I>T | No |
ClinGen Ensembl |
|
|
CA352344581 rs1349840433 |
171 | F>L | No |
ClinGen TOPMed |
|
|
CA352344574 rs1200074950 |
172 | P>S | No |
ClinGen gnomAD |
|
|
CA352344561 rs1464604334 |
174 | H>R | No |
ClinGen gnomAD |
|
|
rs757320803 CA2341023 |
175 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs752657568 CA2341022 |
175 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757320803 CA2341024 |
175 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750449971 CA2341025 |
175 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA352344533 rs1559735392 |
178 | A>G | No |
ClinGen Ensembl |
|
|
rs759370845 CA2341020 |
178 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74378333 rs901350192 |
185 | T>A | No |
ClinGen Ensembl |
|
|
CA2341016 rs766071472 |
185 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352344485 rs766071472 |
185 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352344462 rs1365430903 |
188 | T>I | No |
ClinGen gnomAD |
|
|
rs148873732 RCV001287981 CA2341014 |
189 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1322030662 CA352344460 |
189 | R>W | No |
ClinGen gnomAD |
|
|
CA352344450 rs1405303441 |
190 | F>L | No |
ClinGen gnomAD |
|
|
CA2341013 rs769319255 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352344440 rs1287405548 |
192 | L>W | No |
ClinGen TOPMed |
|
|
CA352344431 rs747663849 |
193 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1321060754 CA352344408 |
196 | P>R | No |
ClinGen TOPMed |
|
|
CA2341009 rs747313286 |
197 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2341010 rs150160564 |
197 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352344384 rs1559730909 |
198 | D>E | No |
ClinGen Ensembl |
|
|
rs1449624859 CA352344366 |
201 | R>C | No |
ClinGen TOPMed |
|
|
COSM1044890 rs1483548986 CA352344365 |
201 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA352344363 rs1483548986 |
201 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2340984 rs771061421 |
203 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs779190429 CA2340985 RCV000517705 |
203 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV001269928 CA2340983 rs749331668 |
204 | F>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2340981 rs75412179 |
205 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1575468963 CA352344334 |
206 | E>G | No |
ClinGen Ensembl |
|
|
CA352344326 rs1575468956 |
207 | T>K | No |
ClinGen Ensembl |
|
|
rs995800745 CA74378024 |
208 | I>V | No |
ClinGen Ensembl |
|
|
CA352344312 rs1235537444 |
209 | A>V | No |
ClinGen gnomAD |
|
|
CA352344279 rs1177380009 |
214 | F>L | No |
ClinGen TOPMed |
|
|
rs750255597 CA2340977 |
215 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340975 rs146694902 |
217 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761390646 CA2340974 |
218 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352344238 rs1425592012 |
220 | F>C | No |
ClinGen gnomAD |
|
|
rs774238439 CA2340973 |
222 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763560921 CA2340972 |
223 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA352344213 rs1322368451 |
224 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 224 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254505862 CA352344209 |
225 | M>L | No |
ClinGen gnomAD |
|
|
rs1254505862 CA352344210 |
225 | M>V | No |
ClinGen gnomAD |
|
|
CA2340969 rs772633592 |
228 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74378023 rs766344882 |
228 | I>V | No |
ClinGen Ensembl |
|
|
rs759828781 CA2340968 |
229 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA352344179 rs1314550031 |
230 | L>* | No |
ClinGen gnomAD |
|
|
CA74378022 rs749710737 |
236 | V>A | No |
ClinGen Ensembl |
|
|
rs771135471 CA2340966 CA2340967 |
236 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1229000945 CA352344121 |
238 | E>G | No |
ClinGen gnomAD |
|
|
CA352344114 rs1559730391 |
239 | D>G | No |
ClinGen Ensembl |
|
|
rs1236258312 CA352344105 |
240 | Y>C | No |
ClinGen TOPMed |
|
|
rs1352222203 CA352344101 |
241 | D>N | No |
ClinGen gnomAD |
|
|
CA2340964 rs201052710 |
244 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2340965 rs201052710 |
244 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2340961 rs780140084 |
247 | A>V | No |
ClinGen ExAC |
|
|
rs201491185 CA2340959 |
248 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352344034 rs757113016 |
250 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340953 rs763793134 |
252 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2340952 rs755615560 |
255 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1266984034 CA352343992 |
257 | I>F | No |
ClinGen gnomAD |
|
|
rs767953054 CA2340950 |
258 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA352343974 rs1422264930 |
260 | L>P | No |
ClinGen gnomAD |
|
|
CA74378020 rs200840765 |
260 | L>V | No |
ClinGen Ensembl |
|
|
CA352343956 rs1303119497 |
262 | K>N | No |
ClinGen gnomAD |
|
|
rs1232268094 CA352343962 |
262 | K>Q | No |
ClinGen gnomAD |
|
|
CA352343958 rs1331413965 |
262 | K>T | No |
ClinGen gnomAD |
|
|
rs369488032 CA2340948 |
263 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369488032 CA2340949 |
263 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2340942 rs776868518 |
270 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA352343895 rs1575468324 |
272 | W>G | No |
ClinGen Ensembl |
|
|
rs772092273 CA2340941 |
272 | W>S | No |
ClinGen ExAC TOPMed |
|
|
CA2340940 rs367711525 |
278 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367711525 CA2340939 |
278 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756986703 CA2340938 |
279 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs184756780 CA2340935 RCV000892058 |
281 | F>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs192531429 CA2340934 RCV000710543 |
284 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 285 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769678648 CA74378018 |
285 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352343802 rs1297054040 |
287 | G>R | No |
ClinGen gnomAD |
|
|
CA74378017 rs571306863 |
287 | G>V | No |
ClinGen gnomAD |
|
|
rs371063079 CA352343785 |
289 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371063079 CA2340929 RCV000517195 |
289 | H>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA74378016 rs967906623 |
292 | L>F | No |
ClinGen Ensembl |
|
|
CA352343758 rs1403505889 |
293 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2340928 rs763225867 |
293 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352343760 rs1403505889 |
293 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773720901 CA2340927 |
294 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2340926 rs144349000 |
295 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2340925 COSM242967 rs144349000 |
295 | N>S | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA352343737 rs144349000 |
295 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2340924 rs777030076 |
297 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA74378015 rs368194194 |
298 | T>I | No |
ClinGen ESP |
|
|
CA2340923 rs768594040 |
300 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA74378014 rs768484828 |
300 | K>R | No |
ClinGen Ensembl |
|
|
CA352343671 rs1575468074 |
301 | E>G | No |
ClinGen Ensembl |
|
|
rs1009027652 CA74378013 |
301 | E>K | No |
ClinGen TOPMed |
|
|
rs760863716 CA2340922 |
304 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2340921 rs774148896 |
305 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352343629 rs1575468047 |
305 | Y>S | No |
ClinGen Ensembl |
|
|
CA352343616 rs1442989442 |
306 | P>L | No |
ClinGen gnomAD |
|
|
CA352343605 rs748978132 |
307 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2340920 rs770904407 |
307 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384304009 CA907313446 |
308 | Y>* | No |
ClinGen Ensembl |
|
|
CA352343584 rs376195257 |
308 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1406165226 CA352343587 |
308 | Y>C | No |
ClinGen TOPMed |
|
|
CA352343576 rs1559729364 |
309 | K>N | No |
ClinGen Ensembl |
|
|
rs777566392 CA74378011 |
311 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777566392 CA2340918 |
311 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229493583 CA352343549 |
312 | L>S | No |
ClinGen gnomAD |
|
|
rs201479117 CA2340917 |
313 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201479117 CA352343544 |
313 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352343538 rs747769148 |
313 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352343535 rs1244093955 |
314 | I>V | No |
ClinGen gnomAD |
|
|
rs1341623638 CA352343527 |
315 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA352343525 rs1575467910 |
315 | Y>S | No |
ClinGen Ensembl |
|
|
CA352343516 rs1408402640 |
316 | L>P | No |
ClinGen gnomAD |
|
|
rs1575467874 CA352343508 |
318 | S>P | No |
ClinGen Ensembl |
|
|
CA352343494 rs1290829003 |
320 | P>R | No |
ClinGen TOPMed |
|
|
CA2340913 rs139077997 |
322 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2340912 rs780361433 |
323 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs758961704 CA2340911 |
326 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340906 rs754095732 |
328 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2340907 rs762313080 |
328 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340905 rs764440861 |
329 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs970747480 CA74378010 |
329 | S>T | No |
ClinGen TOPMed |
|
|
rs1024962328 RCV000991527 CA74378009 |
330 | L>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
COSM480099 rs1575467727 CA352343427 |
331 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 331 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357073493 CA352343423 |
332 | V>I | No |
ClinGen gnomAD |
|
|
rs1183784960 CA352343409 COSM730820 |
333 | M>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1286018255 CA352343400 |
334 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352343383 rs1227163239 |
337 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs370331216 CA2340900 |
338 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553236835 CA2340899 |
340 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352343353 rs1322395258 |
341 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1392337093 CA352343340 |
342 | W>* | No |
ClinGen gnomAD |
|
|
rs780706796 CA2340897 |
343 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs747996814 CA2340898 |
343 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352343326 rs1412558931 |
345 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1046226208 CA74378008 |
345 | G>S | No |
ClinGen Ensembl |
|
|
CA352343324 rs1412558931 |
345 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA74378006 rs78839506 |
348 | E>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA352343310 rs1208434174 |
348 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746449970 CA2340895 |
350 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001287976 rs143141504 |
350 | S>R | No |
ClinVar dbSNP |
|
|
CA352343284 rs1227199919 |
351 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757883422 CA2340893 |
351 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757883422 CA352343287 |
351 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA352343273 rs1339498668 |
353 | E>G | No |
ClinGen gnomAD |
|
|
rs779618110 CA2340892 |
356 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs757689043 CA2340891 |
360 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2340890 rs373948580 |
361 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2340889 rs370018426 |
362 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352343196 rs1443105939 |
365 | I>L | No |
ClinGen TOPMed |
|
|
rs926487903 CA74378005 |
366 | Y>C | No |
ClinGen Ensembl |
|
|
rs760973973 CA2340888 |
367 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352343180 rs1433660264 |
367 | A>V | No |
ClinGen gnomAD |
|
|
CA2340887 rs752679400 |
368 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352343178 rs1240588718 |
368 | I>V | No |
ClinGen TOPMed |
|
|
rs767603679 CA2340886 |
371 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352343144 rs1412675914 |
373 | M>L | No |
ClinGen gnomAD |
|
|
rs1055034872 CA74378004 COSM1471670 |
374 | N>S | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA2340885 rs537457363 |
375 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352343128 rs1172915658 |
375 | R>H | No |
ClinGen gnomAD |
|
|
CA2340884 rs773121159 |
378 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs773121159 CA352343111 |
378 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA352343109 rs61732728 |
378 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352343102 rs1451311121 |
379 | Y>* | No |
ClinGen TOPMed |
|
|
CA2340882 rs761532493 |
379 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1249208019 CA352343101 |
380 | A>T | No |
ClinGen gnomAD |
|
|
CA352343090 rs1218639487 |
381 | A>V | No |
ClinGen gnomAD |
|
|
rs144272231 CA2340881 |
382 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1414566442 CA352343088 |
382 | E>V | No |
ClinGen TOPMed |
|
|
CA352343059 rs1346719997 |
386 | S>* | No |
ClinGen gnomAD |
|
|
rs1343078349 CA352343055 |
387 | W>R | No |
ClinGen TOPMed |
|
|
CA352343045 rs1227045054 |
388 | E>* | No |
ClinGen gnomAD |
|
|
rs933975114 CA74377820 |
389 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1559725761 CA352343024 |
389 | N>S | No |
ClinGen Ensembl |
|
|
CA352343012 rs1343601094 |
390 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs530618296 CA2340860 |
393 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2340858 rs771524070 |
396 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340859 rs745316599 |
396 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352342977 rs745316599 |
396 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340857 rs771524070 |
396 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200151543 CA352342962 |
398 | N>S | No |
ClinGen TOPMed |
|
|
rs1431804084 CA352342955 |
399 | H>Y | No |
ClinGen TOPMed |
|
|
rs749770988 CA2340856 |
406 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs892187582 CA352342889 |
407 | F>L | No |
ClinGen Ensembl |
|
|
CA74377002 rs968173342 |
408 | N>D | No |
ClinGen TOPMed |
|
|
CA352342885 rs1188206292 |
408 | N>S | No |
ClinGen gnomAD |
|
|
rs1298916835 CA352342869 |
410 | L>F | No |
ClinGen gnomAD |
|
|
CA2340830 rs762428946 |
411 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352342850 rs1575439059 |
412 | C>F | No |
ClinGen Ensembl |
|
|
CA352342843 rs1367145393 |
413 | F>Y | No |
ClinGen gnomAD |
|
|
CA352342835 rs1309854624 |
414 | A>S | No |
ClinGen TOPMed |
|
|
CA2340829 rs773766788 CA352342825 |
415 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208624348 CA352342827 |
415 | S>P | No |
ClinGen TOPMed |
|
|
CA352342820 rs1443146561 |
416 | L>V | No |
ClinGen gnomAD |
|
|
CA352342800 rs748489030 |
418 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748489030 CA2340826 |
418 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352342791 rs1458221388 |
419 | I>T | No |
ClinGen gnomAD |
|
|
rs866170534 CA74377001 |
420 | A>S | No |
ClinGen TOPMed |
|
|
CA74377000 rs1019870798 |
421 | F>S | No |
ClinGen Ensembl |
|
|
CA352342768 rs1475198096 |
422 | V>F | No |
ClinGen TOPMed |
|
|
CA352342752 rs1267557783 |
424 | K>E | No |
ClinGen gnomAD |
|
|
rs1194958923 CA352342742 |
425 | D>Y | No |
ClinGen gnomAD |
|
|
rs1463116087 CA352342734 |
426 | M>V | No |
ClinGen gnomAD |
|
|
rs1419954320 CA352342722 |
427 | K>M | No |
ClinGen TOPMed |
|
|
rs747205227 CA2340822 |
428 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352342717 rs747205227 |
428 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171696559 CA352342702 |
429 | L>F | No |
ClinGen TOPMed |
|
|
rs140132703 CA2340820 |
430 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA352342698 rs140132703 |
430 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1358287480 CA352342692 |
431 | Q>* | No |
ClinGen TOPMed |
|
|
CA352342687 rs1232196880 |
431 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1311129331 CA352342667 |
432 | S>I | No |
ClinGen gnomAD |
|
|
CA352342662 rs1559702008 |
433 | L>M | No |
ClinGen Ensembl |
|
|
CA352342649 rs1575428179 |
434 | A>V | No |
ClinGen Ensembl |
|
|
rs566445796 CA2340801 |
435 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA74376530 rs77313263 |
436 | L>F | No |
ClinGen gnomAD |
|
|
CA352342621 rs1489809344 |
438 | I>V | No |
ClinGen TOPMed |
|
|
CA352342613 RCV000710539 rs1559701894 |
439 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2340800 rs759907565 CA74376528 |
441 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1476071450 CA352342585 |
442 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 445 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 445 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269589174 CA352342560 |
446 | I>V | No |
ClinGen TOPMed |
|
|
rs778900729 CA2340797 |
447 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340798 rs745940196 |
447 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA352342539 rs1179487940 |
449 | S>T | No |
ClinGen TOPMed |
|
|
rs1259407782 CA352342529 |
450 | F>S | No |
ClinGen gnomAD |
|
|
rs757390845 CA2340796 |
451 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA352342510 rs1274104955 |
453 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352342509 rs1274104955 |
453 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2340792 rs751465063 |
454 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352342505 rs1341629704 |
454 | W>R | No |
ClinGen gnomAD |
|
|
rs1244748603 CA352342489 |
456 | Q>P | No |
ClinGen gnomAD |
|
|
CA2340791 rs766039647 |
458 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs369752949 CA74376527 |
460 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA2340788 rs764608783 |
461 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs866903914 CA74376526 |
461 | V>M | No |
ClinGen Ensembl |
|
|
rs3772165 CA352342451 |
462 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3772165 CA352342452 |
462 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761404415 CA2340787 |
462 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352342445 rs1575427871 |
463 | V>G | No |
ClinGen Ensembl |
|
|
CA352342434 rs1336476959 |
465 | R>K | No |
ClinGen TOPMed |
|
|
rs990047189 CA74376525 |
466 | K>E | No |
ClinGen Ensembl |
|
|
CA2340784 rs775884584 |
466 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352342419 rs1575427804 |
467 | V>G | No |
ClinGen Ensembl |
|
|
rs746039090 CA2340782 |
467 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2340779 rs749382764 |
469 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439742655 CA352342379 |
473 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2340777 rs550874282 |
475 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746775690 CA2340776 |
477 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340775 rs779750486 |
479 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs530875978 CA2340774 |
483 | I>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs1457856350 CA352342298 |
485 | E>D | No |
ClinGen TOPMed |
|
|
CA352342295 rs1328978968 |
486 | K>E | No |
ClinGen gnomAD |
|
|
rs1179970030 CA352342289 |
486 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 487 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352342263 rs1280503492 |
490 | T>A | No |
ClinGen gnomAD |
|
|
CA2340773 rs749990382 |
490 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs753406928 CA352342246 |
492 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768074189 CA2340749 |
496 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA74375926 rs985357840 |
497 | D>V | No |
ClinGen Ensembl |
|
|
rs1187971566 CA352342191 |
499 | L>S | No |
ClinGen TOPMed |
|
|
CA74375925 rs952756971 |
502 | F>L | No |
ClinGen gnomAD |
|
|
CA2340747 rs201719088 |
504 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1294787628 CA352342131 |
508 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2340745 rs369410702 |
509 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773596511 CA2340744 |
512 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA352342104 rs1271808630 |
512 | S>P | No |
ClinGen gnomAD |
|
|
CA2340743 rs140436050 |
513 | C>Y | No |
ClinGen ESP ExAC |
|
|
CA74375923 rs1027584128 |
514 | V>I | No |
ClinGen TOPMed |
|
|
rs773732584 CA74375922 |
515 | Y>C | No |
ClinGen Ensembl |
|
|
rs1389923148 CA352342072 |
517 | L>S | No |
ClinGen TOPMed |
|
|
rs1377438283 CA352342066 |
518 | A>S | No |
ClinGen gnomAD |
|
|
rs772110161 CA74375919 |
520 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772110161 CA2340740 |
520 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770747754 CA2340737 |
521 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2340735 rs777418072 |
526 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352342003 rs1486451713 |
528 | T>A | No |
ClinGen gnomAD |
|
|
CA352341999 rs1271992711 |
528 | T>I | No |
ClinGen gnomAD |
|
|
CA352341996 rs1303561743 |
529 | E>* | No |
ClinGen TOPMed |
|
|
rs1203235023 CA352341988 |
530 | V>I | No |
ClinGen gnomAD |
|
|
CA352341961 rs1307621832 |
534 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352341963 rs1307621832 |
534 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1228082654 CA352341960 |
534 | A>V | No |
ClinGen TOPMed |
|
|
rs562390589 CA74375918 |
535 | L>* | No |
ClinGen Ensembl |
|
|
CA352341939 rs1559692762 |
537 | M>T | No |
ClinGen Ensembl |
|
|
rs755556322 CA2340733 |
539 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352341922 rs1226599651 |
539 | R>S | No |
ClinGen gnomAD |
|
|
rs752320058 CA352341897 RCV000998061 |
543 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs752320058 CA2340732 |
543 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA352341893 rs1416318777 |
544 | P>A | No |
ClinGen gnomAD |
|
|
rs751838756 CA2340729 |
545 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA352341876 rs1441715164 |
546 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 548 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750611985 CA2340726 |
550 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765556700 CA2340725 |
551 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417691182 CA352341849 |
551 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1476363008 CA352341832 |
553 | G>V | No |
ClinGen gnomAD |
|
|
CA2340724 rs761789296 |
554 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs761789296 CA352341830 |
554 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA2340723 rs776825753 |
555 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1193861982 CA352341792 |
557 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 558 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 558 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17409162 CA74375332 |
561 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352341759 rs1485469553 |
562 | M>I | No |
ClinGen gnomAD |
|
|
rs769299384 CA2340697 |
562 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000517492 CA352341754 rs1553709113 |
563 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA74375331 rs971816036 |
565 | I>V | No |
ClinGen gnomAD |
|
|
CA352341730 rs1228869520 |
567 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 568 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291830935 CA352341725 |
568 | V>I | No |
ClinGen gnomAD |
|
|
CA352341719 rs1414511280 |
569 | T>A | No |
ClinGen gnomAD |
|
|
CA2340693 rs768152076 |
570 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2340691 rs780698368 COSM1044886 |
571 | C>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000518380 CA352341696 rs759026322 |
572 | A>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA352341699 rs1412795689 |
572 | A>T | No |
ClinGen TOPMed |
|
|
CA2340690 rs759026322 RCV000516307 COSM1182999 |
572 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs969252656 CA74375329 |
573 | L>P | No |
ClinGen gnomAD |
|
|
CA352341684 rs1415493482 |
574 | I>M | No |
ClinGen gnomAD |
|
|
CA352341679 RCV000991523 rs865842244 |
575 | G>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA74375328 rs865842244 |
575 | G>V | No |
ClinGen gnomAD |
|
|
rs1475383410 CA352341678 |
576 | M>V | No |
ClinGen gnomAD |
|
|
CA352341664 rs1259323409 |
577 | S>L | No |
ClinGen gnomAD |
|
|
CA2340688 rs779383769 |
581 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340687 rs757587376 COSM252346 |
582 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA74375327 VAR_032640 rs17853862 |
583 | V>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1022215776 CA74375326 |
585 | P>T | No |
ClinGen Ensembl |
|
|
rs762918406 CA2340682 CA2340681 |
587 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340683 rs752833757 |
587 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773162169 CA2340680 |
590 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236502639 CA352341580 |
591 | L>V | No |
ClinGen gnomAD |
|
|
CA352341574 rs1276096301 |
592 | I>V | No |
ClinGen TOPMed |
|
|
CA2340678 rs761523569 |
596 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs370136137 CA2340677 |
598 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74375324 rs1010829213 |
599 | E>Q | No |
ClinGen gnomAD |
|
| rs754900776 | 600 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144728237 CA2340662 |
601 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750300986 COSM480098 CA2340661 |
601 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769594907 CA74362865 |
602 | L>F | No |
ClinGen TOPMed |
|
|
rs765087258 CA2340660 |
606 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs753843286 CA2340656 |
608 | I>L | No |
ClinGen TOPMed |
|
|
rs763774431 CA2340655 |
608 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs753843286 CA74362864 |
608 | I>V | No |
ClinGen TOPMed |
|
|
CA2340654 rs760368409 |
609 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs940262617 CA74362863 |
609 | L>P | No |
ClinGen Ensembl |
|
|
rs771653072 CA74362862 |
610 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771653072 CA2340653 |
610 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340652 rs771653072 |
610 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352337108 rs1268397689 |
613 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1373132609 CA352337118 |
613 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 613 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326875025 CA352337085 |
615 | D>E | No |
ClinGen gnomAD |
|
|
rs774919767 CA2340651 |
617 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2340648 rs778038012 COSM1044864 |
618 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs374665712 CA2340649 |
618 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74362860 rs559879408 |
619 | H>R | No |
ClinGen 1000Genomes |
|
|
rs770175601 CA2340647 |
620 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs781404448 CA352337003 CA2340645 |
622 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484505302 CA352336966 |
626 | R>G | No |
ClinGen gnomAD |
|
|
CA352336954 rs778892773 |
627 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2340641 rs757187174 |
628 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1229411895 CA352336916 |
630 | E>K | No |
ClinGen TOPMed |
|
|
rs753848338 CA2340640 |
630 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs763751555 CA352336898 |
631 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763751555 CA2340639 |
631 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA352336892 rs1317764803 |
632 | L>S | No |
ClinGen TOPMed |
|
|
rs1271717994 CA352336826 |
637 | Q>* | No |
ClinGen gnomAD |
|
|
rs752333674 CA2340637 |
637 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767347601 CA2340636 |
638 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA352335096 rs1426653561 |
640 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1178237349 CA352335103 |
640 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1260794121 CA352335088 |
641 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2340608 rs775797184 |
643 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA74356004 rs866263881 |
645 | E>* | No |
ClinGen Ensembl |
|
|
CA352335045 rs1347290519 |
648 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA352335049 rs1208970674 |
648 | K>Q | No |
ClinGen gnomAD |
|
|
CA352335042 rs1236145062 |
649 | E>K | No |
ClinGen gnomAD |
|
|
rs1295308584 CA352335032 |
650 | E>* | No |
ClinGen gnomAD |
|
|
rs1159793147 CA352335025 |
651 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 653 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777841466 CA2340605 |
654 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2340604 rs756170502 |
654 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2340603 rs775593449 |
655 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352334978 rs1304021060 |
657 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1575574947 CA352334981 |
657 | E>G | No |
ClinGen Ensembl |
|
|
CA74356002 rs760388836 |
659 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1478707496 CA352334960 |
660 | T>S | No |
ClinGen gnomAD |
|
|
rs1186161794 CA352334957 |
661 | T>R | No |
ClinGen gnomAD |
1 associated diseases with Q9NW15
[MIM: 613728]: Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:21092923}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:21092923}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9NW15
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NW15 | |||
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium activated cation channel activity | Enables the calcium concentration-regulatable energy-independent passage of cations across a lipid bilayer down a concentration gradient. |
| intracellular calcium activated chloride channel activity | Enables the transmembrane transfer of chloride by a channel that opens in response to stimulus by a calcium ion or ions. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cation transport | The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ion transmembrane transport | A process in which an ion is transported across a membrane. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
5 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKVTLSALDT | SESSFTPLVV | IELAQDVKEE | TKEWLKNRII | AKKKDGGAQL | LFRPLLNKYE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QETLENQNLY | LVGASKIRML | LGAEAVGLVK | ECNDNTMRAF | TYRTRQNFKG | FDDNNDDFLT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MAECQFIIKH | ELENLRAKDE | KMIPGYPQAK | LYPGKSLLRR | LLTSGIVIQV | FPLHDSEALK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLEDTWYTRF | ALKYQPIDSI | RGYFGETIAL | YFGFLEYFTF | ALIPMAVIGL | PYYLFVWEDY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DKYVIFASFN | LIWSTVILEL | WKRGCANMTY | RWGTLLMKRK | FEEPRPGFHG | VLGINSITGK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EEPLYPSYKR | QLRIYLVSLP | FVCLCLYFSL | YVMMIYFDME | VWALGLHENS | GSEWTSVLLY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VPSIIYAIVI | EIMNRLYRYA | AEFLTSWENH | RLESAYQNHL | ILKVLVFNFL | NCFASLFYIA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FVLKDMKLLR | QSLATLLITS | QILNQIMESF | LPYWLQRKHG | VRVKRKVQAL | KADIDATLYE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QVILEKEMGT | YLGTFDDYLE | LFLQFGYVSL | FSCVYPLAAA | FAVLNNFTEV | NSDALKMCRV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FKRPFSEPSA | NIGVWQLAFE | TMSVISVVTN | CALIGMSPQV | NAVFPESKAD | LILIVVAVEH |
| 610 | 620 | 630 | 640 | 650 | |
| ALLALKFILA | FAIPDKPRHI | QMKLARLEFE | SLEALKQQQM | KLVTENLKEE | PMESGKEKAT |