Q92562
PR
Gene name |
FIG4 |
Protein name |
Polyphosphoinositide phosphatase |
Names |
Phosphatidylinositol 3,5-bisphosphate 5-phosphatase, SAC domain-containing protein 3, Serine-protein phosphatase FIG4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9896 |
EC number |
3.1.3.16: Phosphoric monoester hydrolases |
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
2 structures for Q92562
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7K1W | EM | 510 A | F | 1-907 | PDB |
| AF-Q92562-F1 | Predicted | AlphaFoldDB |
733 variants for Q92562
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001232509 rs1490935299 |
1 | M>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693343 rs1462234190 |
1 | M>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546438 RCV002395479 rs915749340 RCV002473059 CA145141181 |
5 | A>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA365206492 RCV001042757 rs868101103 |
6 | A>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587777713 RCV000697297 CA270671 VAR_071957 RCV000144071 |
17 | L>P | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J CMT4J [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001223460 RCV002348749 CA365206766 rs762687855 |
18 | Y>C | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002348449 rs1774396046 RCV001062258 |
18 | Y>H | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1041331138 CA145141268 RCV001313557 |
21 | R>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002272315 rs769687105 CA3955668 RCV000654156 |
27 | V>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002377179 RCV000756166 rs375691683 CA3955670 RCV000553432 |
34 | T>M | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368625871 RCV000654183 RCV001152670 RCV002442360 RCV001152671 CA3955674 |
37 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs192324110 RCV000694623 CA3955675 |
37 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
CA3955678 rs373630745 RCV001066187 RCV002327349 |
39 | L>S | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA365211360 RCV000691678 rs1346518731 |
40 | K>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121908287 RCV001813731 RCV000416487 CA233088 RCV001270162 VAR_036974 RCV001095515 RCV000143812 RCV000476702 RCV000001791 RCV000507425 RCV001330564 RCV002362551 RCV001535566 |
41 | I>T | FIG4-Related Disorders Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis Bilateral parasagittal parieto-occipital polymicrogyria Inborn genetic diseases Yunis-Varon syndrome Amyotrophic lateral sclerosis type 11 CMT4J; the mutant protein is unstable; low levels of the protein results from impaired interaction with VAC14 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065785 rs1775389277 |
41 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375629140 CA3955680 RCV001306782 |
44 | T>I | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA365211511 rs1562642404 RCV000694170 |
46 | P>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3955682 RCV000792093 rs754533235 |
52 | I>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000001798 rs121908290 VAR_054832 CA251934 |
53 | D>Y | Amyotrophic lateral sclerosis type 11 ALS11 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001048265 rs1775432556 |
57 | V>D | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000613726 RCV000276656 CA3955704 RCV002411248 RCV000857753 RCV001094995 rs145337669 RCV000552045 |
58 | Y>C | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748869342 RCV001054345 CA3955705 |
59 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001302843 rs1775433375 |
61 | Q>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418604 rs745860370 RCV002558741 CA3955708 RCV001172962 |
68 | G>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3955710 RCV002532973 RCV001726321 RCV000822045 RCV001152673 rs540674198 RCV001152672 RCV000714673 |
69 | R>C | FIG4-Related Disorders Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10625631 rs886060982 RCV000331774 RCV000386163 |
79 | G>R | Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204549 rs774546266 CA3955716 |
82 | G>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3955717 RCV001055065 rs768384237 RCV002429665 |
84 | S>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001861266 COSM1072082 RCV000987758 RCV001729560 CA3955720 RCV000382869 rs753207473 |
88 | R>* | FIG4-Related Disorders Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 endometrium Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM3429848 CA3955721 RCV002436631 rs763532414 RCV001058635 |
89 | A>V | Charcot-Marie-Tooth disease type 4 large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202640 rs1775437078 |
94 | G>D | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1562648373 RCV000789113 RCV001195964 RCV000001792 |
98 | F>missing | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696526 CA365215726 rs1209947403 |
101 | F>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA143922 rs397509395 VAR_070051 RCV000043690 |
104 | G>D | Yunis-Varon syndrome YVS; complete loss of function mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002550724 RCV000998666 rs1562648414 |
106 | Y>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3955745 rs372854425 RCV001039625 RCV002320246 |
107 | I>M | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002321883 rs140331779 RCV000229233 CA3955746 RCV000516609 |
110 | I>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3955749 rs551339249 RCV000288549 RCV001095019 RCV001545776 RCV000343538 |
117 | A>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001217819 rs771093157 CA3955751 |
118 | D>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219058 rs1775846393 |
120 | G>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702060 CA3955755 rs145466148 |
125 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053342 RCV002261267 CA3955759 rs571563767 |
134 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs571563767 RCV001172958 CA3955758 RCV000862624 RCV002352509 |
134 | Y>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA365217270 RCV000693886 rs1562648534 |
138 | D>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762663195 RCV001294855 RCV001843580 CA3955763 |
141 | R>Q | Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001054797 rs1775849908 |
145 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1233666827 CA365218306 RCV000654195 |
150 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1455052760 CA365218390 RCV001065121 |
157 | V>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs769986219 RCV001064731 |
164 | Y>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763532476 RCV000805274 |
171 | L>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070052 CA143925 RCV000043692 rs397514707 |
175 | L>P | Yunis-Varon syndrome YVS; complete loss of function mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000998667 rs141116831 RCV000822576 RCV002345905 CA3955830 |
179 | L>F | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141116831 CA365219229 RCV000530188 |
179 | L>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA251931 RCV000001793 RCV000235305 RCV001046714 RCV001095516 RCV000001796 rs121908288 |
183 | R>* | Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000762431 CA3955835 RCV002343615 rs781588508 RCV001221871 |
183 | R>Q | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002348373 RCV001045730 rs370115339 CA3955839 |
187 | E>K | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs749696803 CA3955841 RCV000654058 |
195 | Q>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000544933 CA3955842 rs770528195 RCV002358614 |
197 | R>C | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA365219537 RCV000686291 rs543462663 |
197 | R>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1583663645 RCV000857163 CA365219649 |
206 | D>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654270 CA3955852 RCV002360664 RCV001154805 RCV001154806 rs529048339 |
214 | G>R | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000860529 RCV002372390 rs565096937 RCV001172965 CA3955878 RCV001154808 RCV001154807 |
220 | I>V | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001038059 RCV000443931 CA3955886 rs138376077 RCV002379389 |
244 | R>C | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002525832 rs776005417 RCV000763552 CA16618230 RCV000478168 RCV001232367 |
246 | W>* | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000789114 RCV000416492 RCV000517693 RCV000001795 rs764717219 RCV000533386 |
254 | F>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001751379 RCV001206196 CA145136065 rs370148297 |
263 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000789752 rs1583669418 |
264 | G>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3955913 RCV001043299 rs774294963 RCV000579266 RCV002420550 |
265 | R>* | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1776321116 RCV001172957 |
267 | V>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689071 rs1474263523 CA365220852 |
269 | V>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs61729092 RCV001173522 RCV000303832 RCV000463578 RCV001705371 RCV001095043 CA3955915 RCV000250363 |
270 | T>A | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3955916 RCV001053371 RCV002416395 rs762123072 |
270 | T>I | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765737780 RCV000467970 CA3955917 |
272 | I>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000043691 rs786200937 RCV001255783 RCV001248346 RCV000236453 RCV002426591 |
278 | K>missing | Charcot-Marie-Tooth disease type 4 Bilateral parasagittal parieto-occipital polymicrogyria Inborn genetic diseases Yunis-Varon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3955919 rs138048706 RCV002411445 RCV000462434 RCV000662127 RCV000662126 RCV000662129 RCV001573278 RCV000662128 RCV001662424 |
278 | K>N | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Bilateral parasagittal parieto-occipital polymicrogyria Inborn genetic diseases Amyotrophic lateral sclerosis type 11 Yunis-Varon syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1562655830 RCV000699815 RCV000711657 CA365221359 |
283 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1776324068 RCV001207097 |
289 | A>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3955920 RCV000809504 rs766829595 RCV002370172 |
291 | C>Y | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA270673 rs587777714 RCV001263366 RCV001857490 RCV000144072 VAR_071958 |
302 | E>K | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J CMT4J; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA3955945 rs573441014 RCV001857851 RCV000416483 |
307 | D>N | Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1583671246 RCV000984907 CA365221876 |
323 | Q>R | Yunis-Varon syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471929 rs1060501400 CA16611933 |
325 | R>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1368013631 RCV001851563 RCV000001794 RCV000789115 |
348 | D>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879253941 RCV001854852 CA10584274 RCV000235420 |
351 | D>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3955977 RCV000465958 rs772356514 |
355 | H>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3955981 RCV000857165 rs776185371 |
358 | A>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001313370 rs1776394936 |
362 | D>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001856907 RCV000490117 rs772677048 RCV002446955 CA3955983 |
364 | M>K | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA290932 rs2295837 RCV001095129 RCV001173263 RCV000125108 RCV000339989 RCV000391678 RCV001309427 RCV002543519 RCV001580074 RCV000576316 VAR_020378 |
364 | M>L | Inborn genetic diseases Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinVar UniProt dbSNP ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV001209168 rs754932535 |
372 | I>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1376239309 CA365222546 RCV001172967 |
374 | I>M | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000623247 rs377357931 CA277617 RCV001235453 RCV000201166 RCV001090680 |
381 | R>* | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1583695317 RCV000789753 |
382 | E>* | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1583695328 RCV000789116 |
383 | K>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1583695322 RCV000987759 |
384 | R>missing | Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3956007 RCV001342577 rs765216035 |
389 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001044642 rs1777062850 |
395 | V>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758599286 CA3956010 RCV000791850 RCV002334466 |
396 | A>G | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758599286 CA3956009 RCV001508192 RCV000824071 |
396 | A>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704549 rs755232396 CA3956012 RCV000991991 |
400 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000654037 rs1554303800 |
402 | N>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001857797 rs879253926 RCV000236745 CA10584275 |
403 | Q>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769415369 CA3956015 RCV001048808 |
407 | P>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3956018 RCV002366052 rs142463699 RCV001239237 |
410 | T>A | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397509394 RCV000043689 |
422 | T>missing | Yunis-Varon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002386257 RCV000702955 CA3956040 rs535554973 |
438 | E>G | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001228149 CA365226225 rs1255518113 RCV001172955 |
445 | G>D | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA365226243 rs1353768172 RCV000702341 |
446 | F>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000654072 RCV000756165 CA3956042 rs201072058 |
450 | R>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001350810 rs1777129902 |
452 | D>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792910 rs1012991465 CA365226337 |
455 | C>G | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000801106 rs770043095 RCV000486299 RCV000789120 RCV002383916 |
458 | L>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3956050 RCV001296835 RCV002379993 rs141309562 |
459 | R>Q | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA365226367 RCV001585721 COSM1072086 RCV000797429 rs1220742669 RCV002386405 |
459 | R>W | Charcot-Marie-Tooth disease type 4 Variant assessed as Somatic; impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA3956074 RCV001042734 RCV000711650 rs201742496 RCV002532917 |
469 | G>R | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs192823053 RCV000654105 CA3956079 |
476 | R>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001555730 CA3956101 RCV001095517 rs749233172 |
483 | R>Q | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000857166 CA3956104 rs747284213 RCV001858532 |
492 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA348307 RCV000204035 rs370249754 |
515 | I>T | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1189038219 RCV000857167 CA365227999 |
517 | K>R | Autosomal dominant distal hereditary motor neuropathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3956146 RCV001059696 rs749672655 |
534 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000416488 CA16044162 rs1057519386 |
540 | T>I | Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1422048624 RCV001213834 |
553 | R>P | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991993 RCV000798693 rs772320287 RCV000330403 |
556 | T>missing | FIG4-Related Disorders Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3956155 RCV000789754 rs776090013 |
559 | K>* | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000471473 CA16611934 rs1060501402 |
584 | D>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA365229916 RCV001172961 rs1562677647 |
588 | Q>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1777638116 RCV001172954 |
598 | F>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001861267 rs751399063 RCV000271850 RCV000366415 CA3956181 |
598 | F>Y | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001172950 rs1777638564 |
601 | T>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296244 CA145168625 rs986837200 |
601 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3956183 rs143184413 RCV001037129 |
602 | E>K | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3956185 RCV001751436 RCV001225217 rs754127221 |
603 | G>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3956189 RCV001227509 rs758695444 |
612 | T>A | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780595685 RCV001172964 CA3956190 RCV000785131 |
612 | T>I | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1777642023 RCV001240557 |
624 | L>F | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772937400 RCV002406540 CA3956196 RCV000686807 |
626 | P>L | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3956197 RCV001172966 RCV002411446 rs762859144 RCV000456786 |
627 | T>A | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770831509 RCV000818026 CA3956199 RCV000857168 |
627 | T>K | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA365231624 RCV002408998 rs1488999396 RCV000824501 |
643 | L>* | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001172960 RCV001508193 VAR_054835 CA3956233 RCV000416491 RCV003165682 rs150301327 RCV001095518 RCV000688613 RCV001154064 |
647 | Y>C | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001701761 RCV000755270 RCV000987760 CA290935 RCV000125110 RCV001701762 rs9885672 RCV001095021 RCV001173531 RCV000376473 VAR_022826 |
654 | V>A | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Bilateral parasagittal parieto-occipital polymicrogyria Yunis-Varon syndrome Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001295110 rs1777954967 |
660 | I>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000789121 RCV001387549 rs1197741113 |
663 | K>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220497 rs781038961 CA3956259 |
666 | K>E | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1777955968 RCV001047740 |
667 | Y>H | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365231834 rs1554307877 RCV000535793 |
671 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774499394 CA3956262 RCV001239272 RCV001196148 |
673 | I>N | Charcot-Marie-Tooth disease type 4 Yunis-Varon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA145177633 rs192447225 RCV000687376 |
679 | R>Q | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3956264 RCV001322416 RCV000235888 rs188910818 |
679 | R>W | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000686299 CA3956265 rs554382573 |
681 | Y>C | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3956267 RCV001340835 rs761084217 |
683 | L>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001222516 rs1777959239 |
689 | T>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1237449502 RCV000820845 CA365231971 |
690 | F>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3956269 rs143531641 RCV000796868 RCV000236139 RCV002418046 |
694 | M>V | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001198716 RCV002418368 CA3956270 RCV000463654 RCV000516472 rs764799053 |
699 | R>C | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Yunis-Varon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750091928 CA3956271 RCV001095047 RCV001196218 RCV000401287 RCV000336983 RCV000481727 |
699 | R>H | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 Yunis-Varon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554308483 RCV000654180 CA365232079 |
700 | D>Y | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000654166 rs766031746 RCV002418119 RCV000395800 CA3956290 |
705 | T>A | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754830354 RCV001172968 |
706 | V>F | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3956292 rs754830354 COSM1311458 RCV001206469 |
706 | V>I | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 urinary_tract [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3956294 rs376570182 RCV001330565 |
707 | G>R | Bilateral parasagittal parieto-occipital polymicrogyria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000857169 rs1583738240 |
711 | S>missing | Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040749 RCV002427505 CA3956296 rs146689226 RCV001172956 |
714 | T>I | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000560685 rs139235893 CA3956297 RCV000506570 COSM1072090 |
716 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001246976 rs758496638 CA3956298 |
716 | R>H | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1778129763 RCV001245467 |
728 | N>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365215806 rs1467094847 RCV000654125 |
731 | N>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001095048 CA3956323 RCV000352246 RCV000488398 RCV000278522 rs372846619 |
734 | E>K | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000412921 rs774799167 CA3956324 RCV001382832 |
738 | Q>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001350977 rs773877685 |
739 | R>W | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA365216039 RCV001156576 RCV001156575 COSM1072092 rs1274229885 RCV002032444 |
741 | T>M | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 large_intestine endometrium Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001172951 rs767193357 |
750 | S>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3956336 RCV001315159 rs375960403 RCV002473264 |
752 | E>D | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001315334 rs200691981 |
754 | V>M | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694453 rs750712213 RCV001539508 |
762 | S>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215473 CA3956341 rs552937585 |
766 | R>W | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV000789707 rs1191997383 RCV002442610 RCV001387550 |
767 | E>missing | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3956344 rs779329699 RCV001302246 |
770 | G>S | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002558742 RCV001172963 RCV002451351 CA3956348 rs760215765 |
776 | S>C | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001760040 rs1778137467 RCV001066094 RCV002445342 |
777 | T>P | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373590484 RCV000527371 RCV001288178 CA145139849 |
780 | K>R | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
VAR_071959 CA170743 rs587777716 RCV000144074 |
783 | D>V | Bilateral parasagittal parieto-occipital polymicrogyria BTOP; partial loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001237155 rs377017892 RCV000711653 CA3956355 RCV002499285 RCV002442546 |
787 | S>N | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA365217118 rs1554309093 RCV000687842 RCV003144493 |
796 | Q>* | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002450727 rs370293982 CA3956388 RCV001203773 RCV000236910 |
802 | Y>C | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1778167481 RCV001051768 |
811 | S>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001254717 RCV002516196 RCV002519748 rs876661144 RCV000216486 |
813 | E>missing | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1778168177 RCV001172953 |
814 | D>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991994 RCV002489468 CA3956395 RCV003147570 RCV002454236 rs375414729 RCV001341199 |
815 | F>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000406774 rs886060984 RCV000991995 RCV000367275 CA10622804 |
820 | R>S | Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA365219823 rs1208125100 RCV000540742 |
822 | V>L | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3956425 RCV001216587 RCV000825523 RCV001197829 RCV000789755 rs745790694 RCV000518350 |
823 | Q>* | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001350986 CA365219833 RCV002547512 rs768773104 |
823 | Q>H | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1778299963 RCV001068042 |
829 | H>Y | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001152897 RCV000857172 CA3956451 RCV001508195 rs201375273 RCV001152896 |
851 | P>L | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001764227 rs774805375 CA3956453 RCV001370290 RCV000416484 |
853 | S>L | Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA337373 RCV000439703 RCV001154182 RCV001154181 rs200970494 RCV000197681 |
856 | S>L | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3956460 rs539773516 RCV001225624 RCV002429957 |
864 | Q>R | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001313762 CA365224938 rs199765196 |
873 | T>P | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001061319 RCV000414249 CA3956465 rs746915624 |
880 | I>N | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001233002 rs550030053 CA3956469 |
885 | G>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs778839285 RCV000823790 |
888 | Q>missing | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776236607 RCV002451501 RCV001219767 CA3956483 |
896 | S>C | Charcot-Marie-Tooth disease type 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002032421 RCV001664709 RCV001154184 RCV001154183 rs764958115 CA3956485 |
897 | M>T | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3956486 RCV000539413 RCV000991996 rs750069994 RCV000789119 |
899 | R>* | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs143685038 RCV000654123 CA3956487 |
902 | I>V | Charcot-Marie-Tooth disease type 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3155681 CA3956490 RCV000819816 rs754970037 RCV001331904 |
905 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 4 large_intestine Yunis-Varon syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA365206418 rs1266219054 |
2 | P>S | No |
ClinGen gnomAD |
|
|
rs1431021720 CA365206440 |
3 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1431021720 CA365206433 |
3 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1194611668 CA365206473 |
5 | A>T | No |
ClinGen gnomAD |
|
|
CA365206489 rs868101103 |
6 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA145141191 rs868101103 |
6 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA365206501 rs1166512615 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA365206510 rs1367256224 |
7 | P>S | No |
ClinGen gnomAD |
|
|
rs141040807 CA3955638 |
9 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365206545 rs1313620443 |
9 | I>V | No |
ClinGen gnomAD |
|
|
rs979929537 CA145141215 |
10 | S>N | No |
ClinGen gnomAD |
|
|
CA365206576 rs1390206091 |
10 | S>R | No |
ClinGen gnomAD |
|
|
CA365206588 rs979929537 |
10 | S>T | No |
ClinGen gnomAD |
|
|
CA145141222 rs756325278 |
11 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756325278 CA3955639 |
11 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365206631 rs1583611553 |
12 | V>G | No |
ClinGen Ensembl |
|
|
CA365206648 rs1296022422 |
13 | Q>* | No |
ClinGen gnomAD |
|
|
CA145141243 rs552856153 |
14 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365206724 rs1583611651 |
16 | V>G | No |
ClinGen Ensembl |
|
|
rs1264494122 CA365206709 |
16 | V>I | No |
ClinGen gnomAD |
|
|
rs762687855 CA3955643 |
18 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248056795 CA365206821 |
20 | T>I | No |
ClinGen gnomAD |
|
|
CA3955645 rs144593588 |
21 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3955647 rs746703726 |
22 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299113235 CA365211058 |
24 | Y>* | No |
ClinGen gnomAD |
|
|
CA365211052 rs1218128770 |
24 | Y>C | No |
ClinGen gnomAD |
|
|
rs1344158585 CA365211067 |
25 | F>L | No |
ClinGen gnomAD |
|
|
rs370608837 CA3955667 |
27 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365211138 rs1204130930 |
28 | G>R | No |
ClinGen TOPMed |
|
|
rs558780995 CA3955669 |
29 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs957622981 CA145153597 |
30 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365211180 rs957622981 |
30 | N>T | No |
ClinGen gnomAD |
|
|
rs774220898 CA3955672 |
35 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3955673 rs760770423 |
36 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761940298 CA3955676 |
38 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1350046262 CA365211339 |
39 | L>F | No |
ClinGen gnomAD |
|
|
CA3955679 rs780739049 |
42 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 44 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365211508 rs1260601343 |
46 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1296748657 CA365211566 VAR_054831 |
48 | D>G | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs921714546 CA145153696 |
50 | V>I | No |
ClinGen TOPMed |
|
|
CA365211631 rs1447275578 |
51 | I>T | No |
ClinGen gnomAD |
|
|
rs1339870115 CA365211605 |
51 | I>V | No |
ClinGen gnomAD |
|
|
rs988908491 CA145153699 |
52 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365211673 rs1330057843 |
54 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755600120 CA3955703 |
56 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1413702282 CA365211994 |
56 | H>Y | No |
ClinGen gnomAD |
|
|
CA365212076 rs1583643002 |
59 | T>I | No |
ClinGen Ensembl |
|
|
rs748869342 CA365212072 |
59 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs757055348 CA3955706 |
60 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA365212132 rs1339715160 |
61 | Q>E | No |
ClinGen gnomAD |
|
|
rs771884966 CA3955709 |
68 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs748211930 CA3955711 |
69 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365212362 rs1317220309 |
71 | D>N | No |
ClinGen TOPMed |
|
|
rs1583643080 TCGA novel CA365212400 RCV000998664 |
73 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
CA3955712 rs769928762 |
76 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773582163 CA3955713 |
76 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs763255765 CA365212493 |
79 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs763255765 CA3955714 |
79 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs753207473 CA3955719 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879254310 CA365212637 |
88 | R>L | No |
ClinGen gnomAD |
|
|
rs879254310 CA10584273 RCV000235549 COSM1072083 |
88 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA365212649 rs1473178886 |
90 | V>L | No |
ClinGen TOPMed |
|
|
CA3955722 rs753543659 |
91 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs966571997 CA145154639 |
92 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 95 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309571996 CA365212713 |
95 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 99 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756709973 CA3955741 |
99 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs756709973 CA365215684 |
99 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA145127294 rs942946390 |
100 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA145127322 rs939950303 |
103 | E>* | No |
ClinGen Ensembl |
|
|
RCV000275974 rs151070087 CA3955743 |
103 | E>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA145127324 rs1057427779 |
103 | E>V | No |
ClinGen Ensembl |
|
|
rs1466735496 CA365215818 |
104 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1620771 rs900855246 CA145127355 |
105 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA365215867 rs1448646416 |
106 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3955747 rs528279324 |
113 | R>K | No |
ClinGen 1000Genomes ExAC |
|
|
rs754936627 CA3955748 |
116 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365217014 rs779006937 |
121 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779006937 CA3955752 |
121 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293835941 CA365217030 |
122 | H>R | No |
ClinGen gnomAD |
|
|
rs1583655184 CA365217060 |
124 | I>N | No |
ClinGen Ensembl |
|
|
CA3955756 rs769125243 |
128 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365217170 rs1389981537 |
130 | T>I | No |
ClinGen TOPMed |
|
|
rs1209981148 CA365217197 |
132 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1209981148 CA365217196 |
132 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs34006646 CA365217213 |
133 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34006646 CA3955757 |
133 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777011122 CA145127448 |
133 | I>V | No |
ClinGen Ensembl |
|
|
CA3955760 rs764746433 |
135 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1476998518 CA365217259 |
137 | N>K | No |
ClinGen TOPMed |
|
|
CA365217254 rs1188590666 |
137 | N>S | No |
ClinGen gnomAD |
|
|
rs750102036 CA3955762 COSM3941461 |
141 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA365217303 rs1390064061 |
142 | V>F | No |
ClinGen gnomAD |
|
|
rs1032343628 CA145127497 |
143 | T>A | No |
ClinGen TOPMed |
|
|
CA365217310 rs1032343628 |
143 | T>P | No |
ClinGen TOPMed |
|
|
CA365217364 rs1583655308 |
148 | A>T | No |
ClinGen Ensembl |
|
|
CA145127546 rs867400590 |
149 | R>M | No |
ClinGen TOPMed |
|
|
rs762295431 CA365218294 |
149 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA365217379 rs867400590 |
149 | R>T | No |
ClinGen TOPMed |
|
|
rs1175493477 CA365218332 |
152 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365218424 rs1461877061 |
160 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1461877061 CA365218423 |
160 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1432001147 CA365218429 |
161 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs939593389 CA145130972 |
163 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 163 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772749482 CA3955803 |
165 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA365219009 RCV000518823 rs1337166091 |
167 | Y>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1337166091 CA365219004 |
167 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748859030 CA3955822 |
168 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA365219037 rs1292275404 |
168 | S>R | No |
ClinGen gnomAD |
|
|
CA3955823 rs770278572 |
169 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000235541 rs770278572 CA3955824 |
169 | Y>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3955827 rs767482828 |
173 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1379189344 CA365219117 |
173 | H>Y | No |
ClinGen Ensembl |
|
|
CA3955828 rs775391378 |
174 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA145132437 rs1038211608 |
175 | L>F | No |
ClinGen TOPMed |
|
|
rs760575768 CA3955829 |
177 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1241944363 CA365219189 |
177 | Y>H | No |
ClinGen gnomAD |
|
|
CA365219249 rs1418037678 |
180 | T>S | No |
ClinGen gnomAD |
|
|
rs76299485 CA145132454 |
182 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781588508 CA3955836 |
183 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317532051 CA365219329 |
185 | P>A | No |
ClinGen gnomAD |
|
|
rs1324528161 CA365219339 |
185 | P>L | No |
ClinGen gnomAD |
|
|
CA365219325 rs1317532051 |
185 | P>T | No |
ClinGen gnomAD |
|
|
rs1239564078 CA365219454 |
192 | E>K | No |
ClinGen TOPMed |
|
|
CA3955840 rs778345003 |
195 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3955843 rs543462663 |
197 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3955844 rs745554323 |
198 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206297225 CA365219549 |
198 | Q>H | No |
ClinGen gnomAD |
|
|
rs1284173119 CA365219564 CA365219565 |
199 | E>D | No |
ClinGen gnomAD |
|
|
CA3955846 rs775231713 |
200 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771826671 CA3955845 |
200 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3955849 rs760525401 |
205 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1208786525 CA365219656 |
206 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365219690 rs1470187983 |
210 | I>V | No |
ClinGen gnomAD |
|
|
CA3955851 rs776688968 |
211 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1159482668 CA365219713 |
212 | Q>E | No |
ClinGen TOPMed |
|
|
CA365219731 rs1472695560 |
213 | G>D | No |
ClinGen TOPMed |
|
|
rs759566206 CA3955855 COSM201007 |
216 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 216 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3955875 rs767524901 |
217 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3955874 rs759613504 |
217 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365220504 COSM739675 rs1347702545 |
219 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365220537 rs1339602884 |
224 | P>S | No |
ClinGen gnomAD |
|
|
CA3955881 rs757645878 |
225 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1381423315 CA365220542 |
225 | Y>H | No |
ClinGen gnomAD |
|
|
rs367828752 CA145134239 |
226 | M>V | No |
ClinGen TOPMed |
|
|
CA365220570 rs1296081777 |
228 | Y>* | No |
ClinGen gnomAD |
|
|
CA145134246 rs1036320063 |
229 | V>A | No |
ClinGen TOPMed |
|
|
rs779593250 CA3955882 |
229 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA365220580 rs1252224103 |
230 | W>* | No |
ClinGen gnomAD |
|
|
rs1452352668 CA365220593 |
232 | G>S | No |
ClinGen gnomAD |
|
|
rs1357171736 CA365220622 |
236 | D>G | No |
ClinGen TOPMed |
|
|
rs1344182553 CA365220632 |
237 | I>M | No |
ClinGen gnomAD |
|
|
rs1170190591 CA365220636 |
238 | I>N | No |
ClinGen gnomAD |
|
|
rs1776224762 RCV001172173 |
240 | S>missing | No |
ClinVar dbSNP |
|
|
rs772586786 CA3955884 RCV001002647 RCV000235319 |
240 | S>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3955885 rs779426765 |
241 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394499105 CA365220664 |
242 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365220662 rs1407223693 |
242 | V>M | No |
ClinGen TOPMed |
|
|
rs1562654327 CA365220668 |
243 | H>Y | No |
ClinGen Ensembl |
|
|
CA3955887 COSM739674 rs768175169 |
244 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA365220681 rs1370834389 |
245 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs76125290 CA145134334 |
248 | L>F | No |
ClinGen TOPMed |
|
|
CA365220740 rs1211310998 |
253 | G>A | No |
ClinGen TOPMed |
|
|
rs1348702371 CA365220736 |
253 | G>R | No |
ClinGen gnomAD |
|
|
CA365220765 rs1212426271 |
257 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1045259801 CA145136048 |
259 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA365220815 rs1447697766 |
262 | I>M | No |
ClinGen Ensembl |
|
|
CA3955910 rs749259112 |
263 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs768713956 CA3955914 |
265 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145136109 rs991119750 |
268 | Y>C | No |
ClinGen TOPMed |
|
|
CA365220847 rs991119750 |
268 | Y>F | No |
ClinGen TOPMed |
|
|
CA365220863 rs1453521546 |
271 | L>P | No |
ClinGen gnomAD |
|
|
rs1377616152 CA365220870 |
272 | I>M | No |
ClinGen gnomAD |
|
|
CA365220871 rs1414535515 |
273 | A>S | No |
ClinGen gnomAD |
|
|
rs773690285 CA3955918 |
275 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA365220894 rs1311885951 |
276 | S>C | No |
ClinGen gnomAD |
|
|
rs1311885951 CA365220895 |
276 | S>F | No |
ClinGen gnomAD |
|
|
rs892208077 CA145136132 |
277 | S>C | No |
ClinGen TOPMed |
|
|
CA365220902 rs1324186328 |
277 | S>R | No |
ClinGen TOPMed |
|
|
CA365220917 CA365220916 rs1224904336 |
279 | F>L | No |
ClinGen gnomAD |
|
|
rs1400258914 CA365220938 |
283 | R>C | No |
ClinGen TOPMed |
|
|
rs1307636345 CA365221365 |
284 | F>L | No |
ClinGen gnomAD |
|
|
CA145136149 rs1057519188 |
288 | G>D | No |
ClinGen gnomAD |
|
|
RCV000415813 CA16043835 rs1057519188 |
288 | G>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 289 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 290 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 294 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365221589 rs1489156594 |
295 | V>F | No |
ClinGen TOPMed |
|
|
CA3955939 rs763234215 |
298 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3955940 rs774775255 |
303 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3955941 rs372497846 |
304 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1316514193 CA365221706 |
305 | L>P | No |
ClinGen gnomAD |
|
|
CA3955943 rs752177662 |
306 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365221740 rs180689715 |
308 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs180689715 CA3955946 |
308 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778766071 CA3955948 |
310 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs757015128 CA3955947 |
310 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1347600189 CA365221759 |
311 | M>I | No |
ClinGen TOPMed |
|
|
rs1562656712 CA365221756 |
311 | M>K | No |
ClinGen Ensembl |
|
|
rs1023186357 CA145137341 |
312 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3955949 rs750369726 |
313 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1405454605 CA365221775 |
314 | T>A | No |
ClinGen TOPMed |
|
|
CA365221785 rs1422398256 |
315 | A>V | No |
ClinGen TOPMed |
|
|
CA3955950 rs556768971 |
320 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748273579 CA3955952 |
323 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769932772 CA3955953 |
324 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1307002669 CA365221893 |
325 | R>G | No |
ClinGen gnomAD |
|
|
CA3955954 rs778157600 |
326 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365221942 rs1424119569 |
329 | P>L | No |
ClinGen TOPMed |
|
|
CA365221957 rs1487496238 |
331 | Y>H | No |
ClinGen TOPMed |
|
|
CA3955955 rs570270584 |
336 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771265385 CA3955956 |
338 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1245394322 CA365222053 |
339 | M>T | No |
ClinGen gnomAD |
|
|
CA3955957 rs774742105 |
343 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA365222105 rs774742105 |
343 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1222312591 CA365222118 |
344 | P>H | No |
ClinGen TOPMed |
|
|
CA365222121 rs1437328280 |
345 | I>V | No |
ClinGen TOPMed |
|
|
CA3955976 rs746275059 |
349 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs879253941 CA365222239 |
351 | D>N | No |
ClinGen gnomAD |
|
|
CA365222253 rs1401101526 |
352 | P>S | No |
ClinGen gnomAD |
|
|
rs1317327110 CA365222265 CA365222266 |
353 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3955979 rs747500102 |
356 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA365222289 rs1314992466 |
356 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs376772954 CA3955980 |
357 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365222313 rs776185371 |
358 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365222357 rs1583671823 |
362 | D>Y | No |
ClinGen Ensembl |
|
|
rs761179999 CA3955982 |
363 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs369640318 CA3955984 |
364 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140977049 CA145137728 |
366 | Q>H | No |
ClinGen ESP gnomAD |
|
|
CA365222426 rs1583671871 |
368 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 369 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583671879 CA365222488 |
372 | I>L | No |
ClinGen Ensembl |
|
|
CA365222495 rs1325031690 |
372 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3955988 rs764124479 |
373 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3955990 rs757244059 |
374 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3955989 rs753971119 |
374 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395556597 CA365222632 |
379 | K>T | No |
ClinGen gnomAD |
|
|
rs759352095 CA3956004 |
380 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3956005 rs752509784 |
383 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1252698469 CA365225048 |
386 | H>R | No |
ClinGen gnomAD |
|
|
CA365225071 VAR_054833 rs1562667776 |
388 | R>G | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 388 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176665888 CA365225156 |
393 | E>Q | No |
ClinGen TOPMed |
|
|
rs548118076 CA3956008 |
393 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365225210 rs1482208591 |
396 | A>P | No |
ClinGen TOPMed |
|
|
CA3956011 rs751952457 |
399 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3956016 rs777119683 |
408 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748995164 CA3956017 |
409 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA365225417 rs142463699 |
410 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA145154662 rs991272081 |
411 | I>T | No |
ClinGen Ensembl |
|
|
VAR_054834 CA145154651 rs959747660 |
411 | I>V | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA3956020 rs774102800 CA365225462 |
413 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365225469 rs1309398629 |
414 | I>F | No |
ClinGen TOPMed |
|
|
CA365225472 rs1410040825 |
414 | I>N | No |
ClinGen TOPMed |
|
|
CA365225543 rs1300831768 |
419 | A>T | No |
ClinGen TOPMed |
|
|
CA145154680 rs547450819 |
423 | K>R | No |
ClinGen 1000Genomes |
|
|
CA3956022 rs775555946 |
424 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA365225630 rs775555946 |
424 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs1353928922 CA365226054 |
428 | N>D | No |
ClinGen gnomAD |
|
|
rs149991846 CA3956037 |
432 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365226085 rs745500828 |
433 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365226157 rs1486703513 |
439 | S>N | No |
ClinGen gnomAD |
|
|
CA145155816 rs113457157 |
440 | V>A | No |
ClinGen Ensembl |
|
|
RCV001008856 rs1583697607 |
444 | T>missing | No |
ClinVar dbSNP |
|
|
CA365226210 rs1345372239 |
444 | T>S | No |
ClinGen TOPMed |
|
|
CA365226253 rs1422632550 |
447 | F>S | No |
ClinGen gnomAD |
|
|
CA3956043 COSM1439708 rs188547769 |
450 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs188547769 COSM244535 CA365226287 |
450 | R>L | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA365226284 rs201072058 |
450 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417523598 CA365226297 |
451 | P>R | No |
ClinGen TOPMed |
|
|
CA3956045 rs766437033 |
451 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 453 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA145155865 rs1012991465 |
455 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1376322399 CA365226346 |
456 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365226399 rs756459287 |
461 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA365226426 rs1205133356 |
463 | K>E | No |
ClinGen TOPMed |
|
|
rs1478560628 CA365226646 |
464 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365226663 rs1335648458 |
465 | N>S | No |
ClinGen TOPMed |
|
|
RCV000991992 rs1583699947 CA365226713 |
468 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 470 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365226809 rs779588326 |
474 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3956076 rs779588326 |
474 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs746661555 CA3956077 |
475 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3956078 rs201655264 |
476 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1331703765 CA365226863 |
478 | Q>E | No |
ClinGen TOPMed |
|
|
CA3956100 rs777583029 |
479 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1295682905 CA365227459 |
481 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365227467 rs1353571171 |
481 | I>N | No |
ClinGen TOPMed |
|
|
CA365227460 rs1295682905 |
481 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365227481 RCV000998668 rs1228223508 |
483 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 484 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319097397 CA365227547 |
489 | C>S | No |
ClinGen gnomAD |
|
|
rs201189638 CA3956102 |
489 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201189638 CA3956103 |
489 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1261940378 CA365227561 |
490 | L>* | No |
ClinGen gnomAD |
|
|
RCV001254716 rs1777239433 |
492 | R>P | No |
ClinVar dbSNP |
|
|
CA3956108 rs770183027 |
496 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409977877 CA365227669 |
496 | A>V | No |
ClinGen gnomAD |
|
|
CA145158574 rs748473120 |
497 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748473120 CA365227680 |
497 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773660356 CA3956109 |
498 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs377415632 CA3956110 |
502 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs898005053 CA145158602 |
503 | C>R | No |
ClinGen TOPMed |
|
|
CA3956111 rs765859184 |
505 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751106426 CA3956112 |
506 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365227841 rs1341120055 |
507 | Y>C | No |
ClinGen gnomAD |
|
|
CA145158626 rs78382144 |
508 | Q>* | No |
ClinGen Ensembl |
|
|
CA145158647 rs1047795813 |
511 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1351102528 CA365227947 |
514 | L>V | No |
ClinGen gnomAD |
|
|
rs548365048 CA3956115 |
515 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3956116 rs374129146 |
519 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3956118 rs141052758 COSM1072087 |
519 | N>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA3956119 rs778667307 |
520 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3956120 rs747090329 |
521 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA365228077 rs1378220574 COSM302237 |
524 | T>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1418156809 CA365228087 |
525 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA365228100 rs1219429204 |
526 | A>E | No |
ClinGen TOPMed |
|
|
CA145160010 rs749672655 |
534 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 538 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365228522 rs1176341528 |
538 | G>S | No |
ClinGen TOPMed |
|
|
CA365228537 rs1057519386 |
540 | T>N | No |
ClinGen TOPMed |
|
|
CA3956150 rs771608370 |
542 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs867714938 CA145160031 |
547 | G>S | No |
ClinGen Ensembl |
|
|
CA3956151 rs774958021 |
551 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3956152 rs760054264 |
552 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA3956153 rs763838759 |
552 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422048624 CA365228616 |
553 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 568 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064797016 CA16618231 RCV000486963 COSM1697746 |
568 | K>R | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs765120931 CA3956158 |
572 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA365228758 rs1215365972 |
573 | T>N | No |
ClinGen TOPMed |
|
|
rs759171573 CA3956159 |
578 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 578 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554304610 CA365228814 |
581 | A>D | No |
ClinGen Ensembl |
|
|
CA365228817 rs1554304611 |
582 | F>I | No |
ClinGen Ensembl |
|
|
CA365228826 rs1554304612 |
583 | S>P | No |
ClinGen Ensembl |
|
|
CA145168536 rs868248254 |
585 | A>V | No |
ClinGen Ensembl |
|
|
rs769763129 CA3956177 |
590 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773166475 CA3956178 |
590 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3956179 rs762799112 |
593 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3956182 rs760861897 |
600 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145168619 rs760861897 |
600 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3662070 CA365230070 rs1346641175 |
603 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA365230109 rs1167600065 |
606 | H>R | No |
ClinGen TOPMed |
|
|
rs750816893 CA3956188 |
606 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365230128 rs1375864580 |
608 | W>L | No |
ClinGen gnomAD |
|
|
CA365230125 rs1203034112 |
608 | W>R | No |
ClinGen gnomAD |
|
|
CA365230169 rs1305057644 |
610 | L>H | No |
ClinGen gnomAD |
|
|
CA365230193 rs1243225247 |
613 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 614 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465189624 CA365230221 |
615 | Y>* | No |
ClinGen gnomAD |
|
|
rs747467723 CA3956191 |
615 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs920168511 CA145168697 |
617 | H>Q | No |
ClinGen TOPMed |
|
|
CA145168687 rs779158904 |
617 | H>R | No |
ClinGen Ensembl |
|
|
CA3956193 rs780547404 |
619 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747646942 CA3956194 |
621 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1433298610 CA365230296 |
622 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770831509 CA3956198 |
627 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365230375 rs1399283870 |
629 | R>S | No |
ClinGen gnomAD |
|
|
rs1444239754 CA365230380 |
630 | S>G | No |
ClinGen gnomAD |
|
|
rs759357345 CA3956200 |
630 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3956222 rs771936092 |
632 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771936092 CA3956223 |
632 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA365231558 rs1401867988 |
633 | Y>F | No |
ClinGen gnomAD |
|
|
rs773462879 CA3956226 |
635 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3956225 rs200878068 |
635 | W>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs763137911 CA3956227 |
637 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA365231586 rs1213301775 |
637 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766573405 CA3956228 |
638 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs751898627 CA3956229 |
640 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs964702421 CA145176281 |
641 | K>R | No |
ClinGen gnomAD |
|
|
CA365231632 rs1193799492 |
644 | P>Q | No |
ClinGen gnomAD |
|
|
rs753238948 CA3956232 |
645 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1026261994 CA145176311 |
646 | P>S | No |
ClinGen TOPMed |
|
|
rs1264413819 CA365231687 |
651 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 653 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs9885672 CA365231710 |
654 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 655 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259851235 CA365231755 |
660 | I>T | No |
ClinGen gnomAD |
|
|
rs1318364122 CA365231757 |
661 | V>M | No |
ClinGen gnomAD |
|
|
rs370602258 CA3956258 |
664 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365231788 rs1436344267 |
665 | H>Y | No |
ClinGen gnomAD |
|
|
CA569601529 rs1337421317 |
667 | Y>* | No |
ClinGen gnomAD |
|
|
rs749338256 CA365231808 |
667 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 670 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3956261 rs771026897 |
673 | I>V | No |
ClinGen ExAC |
|
|
rs1204483891 CA365231862 |
675 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1466571219 CA365231865 |
675 | N>S | No |
ClinGen gnomAD |
|
|
rs759777251 CA3956263 |
677 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1280056510 CA365231911 |
682 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3956266 rs761084217 |
683 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1226582141 CA365231922 |
684 | S>G | No |
ClinGen gnomAD |
|
|
CA365231947 rs1358117372 |
687 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 688 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211870377 CA365231957 |
688 | D>G | No |
ClinGen gnomAD |
|
|
rs1470703929 CA365231966 |
689 | T>I | No |
ClinGen TOPMed |
|
|
rs1186082770 CA365231980 |
691 | C>F | No |
ClinGen TOPMed |
|
|
rs1255832934 CA365231985 |
692 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 693 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3956287 rs765611972 |
702 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs749978902 CA3956288 |
703 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3956289 rs762300347 |
704 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA365232169 rs1562685663 |
708 | I>V | No |
ClinGen Ensembl |
|
|
CA365232285 rs1259009213 |
717 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 717 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199801181 CA3956299 |
718 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs199801181 CA365232299 |
718 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001268269 rs1778083045 |
720 | E>missing | No |
ClinVar dbSNP |
|
|
CA3956301 rs769183335 |
720 | E>D | No |
ClinGen ExAC |
|
|
rs1562685702 CA365232341 |
722 | G>R | No |
ClinGen Ensembl |
|
|
CA365232382 rs1562685708 |
725 | V>I | No |
ClinGen Ensembl |
|
|
CA3956320 rs748558283 |
728 | N>K | No |
ClinGen ExAC gnomAD |
|
|
RCV001268246 rs1778129968 |
730 | S>missing | No |
ClinVar dbSNP |
|
|
rs770038830 CA3956321 |
730 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA365215797 rs1427069018 |
731 | N>D | No |
ClinGen gnomAD |
|
|
rs1461735591 CA365215858 |
734 | E>G | No |
ClinGen gnomAD |
|
|
rs1583741031 CA365216030 |
741 | T>P | No |
ClinGen Ensembl |
|
|
CA365216099 rs760578430 |
744 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326463593 CA365216127 |
746 | P>L | No |
ClinGen TOPMed |
|
|
CA365216147 rs1266127215 |
747 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1000184263 CA145139707 |
748 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365216191 rs1417269564 |
750 | S>G | No |
ClinGen TOPMed |
|
|
CA365216205 rs1449343436 |
750 | S>I | No |
ClinGen gnomAD |
|
|
rs751694228 CA3956335 |
750 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365216257 rs1426463780 |
753 | A>P | No |
ClinGen gnomAD |
|
|
CA145139740 rs200691981 |
754 | V>L | No |
ClinGen 1000Genomes |
|
|
CA3956338 rs752855250 |
759 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1009523114 CA145139759 |
760 | D>N | No |
ClinGen Ensembl |
|
|
CA365216470 rs1377635501 |
763 | G>E | No |
ClinGen Ensembl |
|
|
rs552937585 CA365216520 |
766 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA365216524 rs1363783096 |
766 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3956342 rs749601812 |
767 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365216591 rs909921927 |
769 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA365216615 rs1315238024 |
771 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 774 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215602539 CA365216670 |
774 | Q>H | No |
ClinGen TOPMed |
|
|
CA3956346 rs745511182 |
775 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs775280287 CA3956347 |
775 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA365216679 rs775280287 |
775 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA365216684 rs1339498922 |
776 | S>P | No |
ClinGen TOPMed |
|
|
CA365216682 COSM3697442 rs1339498922 |
776 | S>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs768544802 CA3956349 |
777 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365216705 rs1484833335 |
778 | P>S | No |
ClinGen gnomAD |
|
|
rs1385617804 CA365216720 COSM1241171 |
779 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs202037669 CA3956351 |
781 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319601441 CA365216828 |
784 | A>T | No |
ClinGen gnomAD |
|
|
CA3956354 rs750371012 |
785 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA365216937 rs1583741452 |
792 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 792 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3956385 rs760745228 |
797 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1583742873 CA365217171 |
798 | M>I | No |
ClinGen Ensembl |
|
|
CA3956386 rs764318914 |
798 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365217594 rs1562687461 |
800 | E>D | No |
ClinGen Ensembl |
|
|
CA3956387 rs754049025 |
802 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA365217632 rs1464723987 |
803 | G>E | No |
ClinGen gnomAD |
|
|
CA145140435 rs1005443221 |
805 | N>I | No |
ClinGen TOPMed |
|
|
rs758852260 CA3956393 |
810 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV001257139 rs1778167658 |
811 | S>* | No |
ClinVar dbSNP |
|
|
rs1333529027 CA365217793 |
812 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 814 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365217846 rs1436813289 |
814 | D>Y | No |
ClinGen TOPMed |
|
|
CA365217867 rs1406213877 COSM1072095 |
815 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs375414729 CA3956396 |
815 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754497293 CA3956397 |
816 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs781056036 CA3956398 |
817 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562689878 CA365219839 |
824 | L>R | No |
ClinGen Ensembl |
|
|
CA3956428 rs776714042 |
828 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA145142461 rs904097136 |
828 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773468574 CA3956431 |
835 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 838 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3956433 rs763291639 |
839 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs936946234 CA145142478 |
844 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA365220190 rs1382705058 |
848 | K>N | No |
ClinGen TOPMed |
|
|
rs773347231 CA3956450 |
851 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3956452 rs771006175 |
852 | I>V | No |
ClinGen ExAC |
|
|
CA365224620 rs1298826070 |
854 | A>T | No |
ClinGen TOPMed |
|
|
CA3956455 rs768149305 |
855 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 856 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756957150 CA3956459 |
863 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1169633286 CA365224813 |
863 | V>I | No |
ClinGen TOPMed |
|
|
CA3956462 rs750225182 |
865 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365224853 rs1422871028 |
866 | P>Q | No |
ClinGen gnomAD |
|
|
rs533419433 CA3956463 |
867 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199765196 CA145157433 |
873 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 877 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365225038 rs1306270072 |
878 | A>T | No |
ClinGen gnomAD |
|
|
CA3956467 rs369458436 |
881 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365225099 rs369458436 |
881 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749284744 CA3956468 |
882 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3956472 rs746295268 |
887 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs780643086 COSM1620772 CA3956471 |
887 | M>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA365225275 rs1306576733 |
888 | Q>* | No |
ClinGen gnomAD |
|
|
CA145157475 rs200901577 |
888 | Q>R | No |
ClinGen TOPMed |
|
|
rs975215390 CA145157476 |
889 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 891 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365225342 rs1490366227 |
891 | G>E | No |
ClinGen gnomAD |
|
|
CA3956479 rs761245752 |
894 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3956477 rs776183609 |
894 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA365225446 rs1438672931 |
895 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA365225453 rs1438672931 |
895 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA570036205 rs1418453975 |
896 | S>* | No |
ClinGen gnomAD |
|
|
rs779736636 CA3956481 |
896 | S>* | No |
ClinGen ExAC |
|
|
rs771277165 CA3956480 |
896 | S>V | No |
ClinGen ExAC |
|
|
rs761163553 CA3956484 |
897 | M>L | No |
ClinGen ExAC |
|
|
rs761163553 CA145157521 |
897 | M>V | No |
ClinGen ExAC |
|
|
rs866187682 CA145157534 |
899 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs143685038 CA3956488 |
902 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365225621 VAR_054836 rs1162967341 |
902 | I>T | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs780921285 CA3956491 |
905 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
No associated diseases with Q92562
1 regional properties for Q92562
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | D-Lysine 5,6-aminomutase alpha subunit | 4 - 511 | IPR015130 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.16 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidylinositol-3,4-bisphosphate + phosphate. |
| phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity | Catalysis of the reaction: phosphatidylinositol-3,5-bisphosphate + H2O = phosphatidylinositol-3-phosphate + orthophosphate. |
| phosphatidylinositol-3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate. |
| phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
| phosphatidylinositol-4-phosphate phosphatase activity | Catalysis of the reaction: phosphatidylinositol-4-phosphate + H2O = phosphatidylinositol + orthophosphate. |
| protein serine/threonine phosphatase activity | Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| locomotory behavior | The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. |
| myelin assembly | The process in which the wraps of cell membrane that constitute myelin are laid down around an axon in the central or peripheral nervous system. |
| negative regulation of myelination | Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| pigmentation | The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| vacuole organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vacuole. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPTAAAPIIS | SVQKLVLYET | RARYFLVGSN | NAETKYRVLK | IDRTEPKDLV | IIDDRHVYTQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEVRELLGRL | DLGNRTKMGQ | KGSSGLFRAV | SAFGVVGFVR | FLEGYYIVLI | TKRRKMADIG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GHAIYKVEDT | NMIYIPNDSV | RVTHPDEARY | LRIFQNVDLS | SNFYFSYSYD | LSHSLQYNLT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLRMPLEMLK | SEMTQNRQES | FDIFEDEGLI | TQGGSGVFGI | CSEPYMKYVW | NGELLDIIKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVHRDWLLYI | IHGFCGQSKL | LIYGRPVYVT | LIARRSSKFA | GTRFLKRGAN | CEGDVANEVE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEQILCDASV | MSFTAGSYSS | YVQVRGSVPL | YWSQDISTMM | PKPPITLDQA | DPFAHVAALH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FDQMFQRFGS | PIIILNLVKE | REKRKHERIL | SEELVAAVTY | LNQFLPPEHT | IVYIPWDMAK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YTKSKLCNVL | DRLNVIAESV | VKKTGFFVNR | PDSYCSILRP | DEKWNELGGC | VIPTGRLQTG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILRTNCVDCL | DRTNTAQFMV | GKCALAYQLY | SLGLIDKPNL | QFDTDAVRLF | EELYEDHGDT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LSLQYGGSQL | VHRVKTYRKI | APWTQHSKDI | MQTLSRYYSN | AFSDADRQDS | INLFLGVFHP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TEGKPHLWEL | PTDFYLHHKN | TMRLLPTRRS | YTYWWTPEVI | KHLPLPYDEV | ICAVNLKKLI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VKKFHKYEEE | IDIHNEFFRP | YELSSFDDTF | CLAMTSSARD | FMPKTVGIDP | SPFTVRKPDE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TGKSVLGNKS | NREEAVLQRK | TAASAPPPPS | EEAVSSSSED | DSGTDREEEG | SVSQRSTPVK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MTDAGDSAKV | TENVVQPMKE | LYGINLSDGL | SEEDFSIYSR | FVQLGQSQHK | QDKNSQQPCS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RCSDGVIKLT | PISAFSQDNI | YEVQPPRVDR | KSTEIFQAHI | QASQGIMQPL | GKEDSSMYRE |
| YIRNRYL |