Q7Z402
PR
Gene name |
TMC7 |
Protein name |
Transmembrane channel-like protein 7 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79905 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q7Z402
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z402-F1 | Predicted | AlphaFoldDB |
563 variants for Q7Z402
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA394895280 rs1334552674 |
2 | S>I | No |
ClinGen gnomAD |
|
|
CA394895312 rs781173030 |
4 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781173030 CA394895314 |
4 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781173030 CA7932069 |
4 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315580951 CA394895322 |
5 | S>I | No |
ClinGen gnomAD |
|
|
rs1315580951 CA394895325 |
5 | S>N | No |
ClinGen gnomAD |
|
|
rs1001184266 CA278698318 |
5 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1250534924 CA394895335 |
6 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1250534924 CA394895331 |
6 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1035385974 CA278698319 |
8 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1167081098 CA394895411 |
12 | G>D | No |
ClinGen gnomAD |
|
|
CA394895408 rs1596703615 |
12 | G>S | No |
ClinGen Ensembl |
|
|
rs1033376311 CA278698353 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs980844461 CA278698352 |
14 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394895451 rs62044205 |
15 | S>I | No |
ClinGen gnomAD |
|
|
CA278698356 rs1020037578 |
15 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA278698354 rs62044205 |
15 | S>T | No |
ClinGen gnomAD |
|
|
rs777003939 CA278698371 |
16 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1311246763 CA394895458 |
16 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394895484 rs772756580 |
18 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772756580 CA7932072 |
18 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7932073 rs561383347 |
19 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA278698403 rs531602219 |
21 | H>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394895513 rs531602219 |
21 | H>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA394895527 rs1271259749 |
22 | P>T | No |
ClinGen TOPMed |
|
|
rs1236023170 CA394900296 |
23 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394900369 rs1394484324 |
26 | S>F | No |
ClinGen gnomAD |
|
|
CA7932091 rs777608274 |
28 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA394900416 rs1178257569 |
29 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1481946303 CA394900409 |
29 | S>P | No |
ClinGen gnomAD |
|
|
rs200026312 CA7932092 |
32 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394900511 rs1416823407 |
33 | S>F | No |
ClinGen gnomAD |
|
|
CA7932094 rs773831731 |
35 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7932095 rs745404089 |
38 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7932096 rs771512335 |
38 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374435638 CA7932097 |
39 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3817387 CA7932098 rs200072588 |
40 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777032842 CA7932100 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758568496 CA7932105 |
47 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750628434 CA7932104 |
47 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs766502697 CA7932106 |
48 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394900795 rs1326546753 |
49 | I>V | No |
ClinGen TOPMed |
|
|
rs752752368 CA7932107 |
51 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764567295 CA7932108 |
51 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749135812 CA7932110 |
53 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7932112 rs201473700 COSM1740259 |
54 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201022261 CA7932113 |
55 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201022261 CA7932114 |
55 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7932116 rs747565567 |
56 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs144390908 CA7932117 |
57 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1296149919 CA394900941 |
57 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762260479 CA7932119 |
59 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17854512 CA7932118 VAR_032278 |
59 | R>W | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA7932120 rs765465985 |
60 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773576082 CA7932121 |
61 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932122 rs763266144 |
61 | K>T | No |
ClinGen ExAC |
|
|
rs140955518 CA278715352 COSM108854 |
63 | S>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA278715353 rs148785871 CA394901053 |
63 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215634897 CA394901061 |
64 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1040305316 CA278715354 |
64 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7932124 rs751655491 |
65 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs151053735 CA7932125 |
70 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151053735 CA394901131 |
70 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753660104 CA394901170 |
71 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1474410785 CA394901157 COSM967819 |
71 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA278715412 rs1018436635 |
73 | Y>F | No |
ClinGen TOPMed |
|
|
rs1462622503 CA394901251 |
74 | S>G | No |
ClinGen gnomAD |
|
|
rs1167707317 CA394901269 |
74 | S>T | No |
ClinGen gnomAD |
|
|
CA394901298 rs1567507570 |
75 | S>C | No |
ClinGen Ensembl |
|
|
rs757078325 CA7932128 |
75 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1596736589 CA394901333 |
77 | L>R | No |
ClinGen Ensembl |
|
|
CA394901389 rs1299495821 |
79 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778673170 CA7932129 |
79 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258337489 CA394901421 |
80 | R>G | No |
ClinGen TOPMed |
|
|
rs779580699 CA7932132 |
82 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779580699 CA7932133 |
82 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596736625 CA394901506 |
83 | E>K | No |
ClinGen Ensembl |
|
|
rs768003170 CA7932134 |
84 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs781731100 CA7932136 |
86 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs781731100 CA7932135 |
86 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1306946514 CA394901588 |
86 | S>T | No |
ClinGen gnomAD |
|
|
rs974555869 CA278715512 |
87 | S>I | No |
ClinGen TOPMed |
|
|
CA7932137 rs770352879 |
88 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278715539 rs536265026 |
91 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139490833 CA7932140 |
91 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM2128740 CA394901751 rs139490833 |
91 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1033952447 CA278715553 |
92 | N>D | No |
ClinGen Ensembl |
|
|
rs960545531 CA278715557 |
93 | Y>N | No |
ClinGen Ensembl |
|
|
CA7932141 rs774663146 |
94 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7932142 rs146574197 |
95 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394901872 rs1428572862 |
96 | N>I | No |
ClinGen gnomAD |
|
|
rs537147080 CA7932143 |
98 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753880688 CA7932144 |
99 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs118019760 CA7932145 |
100 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1479937623 CA394902013 |
101 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7932146 rs202073301 |
101 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394902032 rs1428595417 |
103 | L>I | No |
ClinGen gnomAD |
|
|
rs752176889 CA7932170 |
107 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283921638 CA394904447 |
109 | T>A | No |
ClinGen gnomAD |
|
|
CA7932173 rs749741509 |
113 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA394904558 rs1273328512 |
116 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394904587 rs1193924940 |
117 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746148531 CA7932176 |
122 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779132392 CA7932175 |
122 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775742089 CA7932178 |
124 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932179 rs76437344 |
125 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA278720781 rs902380776 |
127 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1326910484 CA394904958 |
129 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394905000 rs146116084 |
130 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394905068 rs1183825034 |
133 | E>G | No |
ClinGen TOPMed |
|
|
rs1471336998 CA394905125 |
135 | A>T | No |
ClinGen TOPMed |
|
|
rs1440222686 CA394905147 |
136 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394905145 rs1440222686 |
136 | R>G | No |
ClinGen gnomAD |
|
|
CA7932181 rs773139379 |
136 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964827846 CA278720802 |
137 | E>* | No |
ClinGen TOPMed |
|
|
rs766258887 CA7932183 |
139 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA278720832 rs61745517 |
141 | H>P | No |
ClinGen Ensembl |
|
|
rs900147441 CA278720823 |
141 | H>Y | No |
ClinGen Ensembl |
|
|
CA394905295 rs375541654 |
142 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375541654 CA278720833 |
142 | L>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394905318 rs1567511236 |
143 | E>G | No |
ClinGen Ensembl |
|
|
CA7932186 rs767095378 |
143 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7932188 rs755686664 |
144 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278720866 rs1008847874 |
146 | R>Q | No |
ClinGen TOPMed |
|
|
rs752696077 CA278720856 |
146 | R>W | No |
ClinGen Ensembl |
|
|
rs1007466373 CA278720873 |
147 | E>G | No |
ClinGen Ensembl |
|
|
rs138688311 CA7932189 |
147 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596746772 CA394905463 |
148 | D>E | No |
ClinGen Ensembl |
|
|
rs1596746764 CA394905448 |
148 | D>G | No |
ClinGen Ensembl |
|
|
rs1596746778 CA394905483 |
149 | I>N | No |
ClinGen Ensembl |
|
|
rs754453392 CA7932190 |
150 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754453392 CA7932191 |
150 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368588877 CA7932192 |
150 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368588877 CA394905524 |
150 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746251555 CA7932193 |
151 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746251555 CA7932194 |
151 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7932195 rs780153828 |
152 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA278720931 rs865870159 |
153 | E>K | No |
ClinGen Ensembl |
|
| rs145788880 | 154 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278723997 rs549489995 |
158 | T>S | No |
ClinGen gnomAD |
|
|
rs267604427 CA278723998 |
161 | Q>* | No |
ClinGen Ensembl |
|
|
CA394907255 rs1415970197 |
163 | Y>C | No |
ClinGen gnomAD |
|
|
CA7932216 rs748262310 |
164 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA278724003 rs267604428 |
165 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7932217 rs147841271 |
168 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1004103108 CA278724020 |
169 | F>L | No |
ClinGen Ensembl |
|
|
rs1293675794 CA394907462 |
170 | L>P | No |
ClinGen TOPMed |
|
|
CA394907483 rs1347184271 |
171 | V>A | No |
ClinGen gnomAD |
|
|
rs141342275 CA394907521 |
172 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394907556 rs1309477445 |
174 | N>H | No |
ClinGen TOPMed |
|
|
CA7932220 rs771819560 |
174 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7932221 rs775401914 |
176 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932223 rs768452250 |
181 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932224 rs372755154 |
183 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7932225 rs761245255 |
184 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7932226 rs764738105 |
185 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442113721 CA394907877 |
186 | L>S | No |
ClinGen TOPMed |
|
|
rs763506692 CA7932228 |
191 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA278724096 rs1001867498 |
192 | T>M | No |
ClinGen TOPMed |
|
|
rs751893078 CA7932230 |
195 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs765771408 CA278724099 |
196 | I>V | No |
ClinGen gnomAD |
|
|
rs755299318 CA7932231 |
197 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7932232 rs781402491 |
199 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7932233 rs752846032 |
200 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7932234 rs752846032 |
200 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7932236 rs142694325 |
202 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278724142 rs960474458 |
205 | P>R | No |
ClinGen gnomAD |
|
|
rs1596753248 CA394908347 |
207 | K>T | No |
ClinGen Ensembl |
|
|
CA7932238 rs201428435 |
208 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146970344 CA7932239 |
209 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394908431 rs768514727 |
210 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932240 rs768514727 |
210 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932241 rs768514727 |
210 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394909377 rs1596754955 |
211 | K>E | No |
ClinGen Ensembl |
|
|
CA394909388 rs1460279901 |
212 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394909408 rs767915875 |
213 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932267 rs767915875 |
213 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278725105 rs921721514 |
216 | Y>C | No |
ClinGen TOPMed |
|
|
rs1459153276 CA394909456 |
216 | Y>H | No |
ClinGen gnomAD |
|
|
CA394909488 rs1395570079 |
217 | P>L | No |
ClinGen gnomAD |
|
|
rs760905718 CA7932269 |
217 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394909538 rs1410195177 |
220 | S>N | No |
ClinGen gnomAD |
|
|
rs749488629 CA7932270 |
224 | I>T | No |
ClinGen TOPMed |
|
|
rs1290210441 CA394909632 |
224 | I>V | No |
ClinGen gnomAD |
|
|
CA7932272 rs764399604 |
225 | Y>* | No |
ClinGen ExAC |
|
|
CA7932273 rs147994584 |
226 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394909725 rs1312134948 |
227 | Y>* | No |
ClinGen gnomAD |
|
|
CA394909714 rs1232550895 |
227 | Y>C | No |
ClinGen gnomAD |
|
|
rs1012107521 CA278725109 |
228 | S>N | No |
ClinGen TOPMed |
|
|
rs1322370510 CA394909756 |
229 | Y>C | No |
ClinGen gnomAD |
|
|
rs757418401 CA7932274 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA394909874 rs1245097653 |
233 | L>S | No |
ClinGen TOPMed |
|
|
rs1206314885 CA394909924 |
235 | S>P | No |
ClinGen gnomAD |
|
|
rs527628140 CA7932276 |
236 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394911314 rs756000809 |
240 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394911368 rs1163573313 |
244 | S>R | No |
ClinGen TOPMed |
|
|
rs1056762273 CA278730212 |
248 | G>E | No |
ClinGen TOPMed |
|
|
CA7932303 rs374745847 |
248 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394911850 rs1176785582 |
252 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7932305 rs771425199 |
253 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394911889 rs4072393 |
254 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7932306 rs4072393 VAR_032279 |
254 | G>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394911884 rs4072393 |
254 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769123002 CA7932308 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1300072245 CA394911957 |
258 | Q>H | No |
ClinGen gnomAD |
|
|
rs762167845 CA7932310 |
262 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7932311 rs367565977 |
263 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7932313 rs763142503 |
264 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773522471 CA7932312 |
264 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1204857295 CA394912076 |
265 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763987902 CA7932317 |
267 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7932318 rs140007425 |
267 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282065355 CA394912133 |
269 | L>M | No |
ClinGen TOPMed |
|
|
rs1332424747 CA394912140 |
269 | L>S | No |
ClinGen TOPMed |
|
|
rs1282065355 CA394912135 |
269 | L>V | No |
ClinGen TOPMed |
|
|
CA394912211 rs1398917948 |
273 | I>T | No |
ClinGen gnomAD |
|
|
CA7932320 rs375390148 |
273 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369414340 CA7932323 |
274 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757994336 CA394912233 |
274 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932322 rs757994336 |
274 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394912253 rs1369056765 |
275 | S>F | No |
ClinGen gnomAD |
|
|
rs1275842998 CA394912277 |
277 | A>D | No |
ClinGen gnomAD |
|
|
rs1596765508 CA394912274 |
277 | A>S | No |
ClinGen Ensembl |
|
|
CA394912303 rs1370141177 |
279 | S>I | No |
ClinGen gnomAD |
|
|
CA394912325 rs1222610734 |
281 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7932326 rs374196164 |
283 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394912425 rs1329321185 |
286 | R>G | No |
ClinGen gnomAD |
|
|
CA278733829 rs779355742 |
287 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA7932355 rs779355742 |
287 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA394913206 rs1244881963 |
289 | E>D | No |
ClinGen gnomAD |
|
|
CA7932357 rs772852930 |
291 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337058572 CA394913253 |
293 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394913274 rs1275127057 |
295 | L>P | No |
ClinGen gnomAD |
|
|
rs754454755 CA7932361 |
297 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs767135335 CA7932362 |
297 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422402836 CA394913316 |
299 | E>V | No |
ClinGen TOPMed |
|
|
CA7932363 rs753302348 |
300 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1021894623 CA278733871 |
300 | E>G | No |
ClinGen Ensembl |
|
|
CA278733872 rs1025682180 |
301 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778382209 CA7932365 |
303 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932367 rs757581788 |
306 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146388936 CA7932366 |
306 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196220882 CA394913419 |
309 | I>M | No |
ClinGen TOPMed |
|
|
rs779006738 CA7932368 |
309 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014099846 CA278733899 |
310 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394913429 rs1243669000 |
311 | A>D | No |
ClinGen TOPMed |
|
|
rs1243669000 CA394913431 |
311 | A>G | No |
ClinGen TOPMed |
|
|
CA7932369 rs746098773 |
311 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314643052 CA394913434 |
312 | G>D | No |
ClinGen TOPMed |
|
|
CA278733909 rs867285812 |
312 | G>S | No |
ClinGen Ensembl |
|
|
CA7932372 rs775525026 |
315 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394913458 rs1453238847 |
315 | F>S | No |
ClinGen TOPMed |
|
|
CA394913462 rs1433966720 |
316 | C>R | No |
ClinGen gnomAD |
|
|
CA394913469 rs1297860689 |
317 | I>L | No |
ClinGen gnomAD |
|
|
CA7932373 rs748125278 |
319 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7932374 rs769754817 |
320 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449074368 CA394913493 |
320 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7932375 rs773155092 |
323 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770695899 CA7932377 |
324 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773946118 CA7932378 |
328 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs759253872 CA7932379 |
328 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7932383 rs764709785 |
331 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7932381 rs752282682 |
331 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567520552 CA394913568 |
332 | Y>N | No |
ClinGen Ensembl |
|
|
CA278733949 rs867702845 |
333 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750660642 CA7932387 |
334 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394913589 rs1236867350 |
335 | R>* | No |
ClinGen TOPMed |
|
|
CA7932388 rs758589113 |
335 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749237760 CA7932411 |
336 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394913895 rs1488890285 |
339 | E>Q | No |
ClinGen gnomAD |
|
|
CA278735537 COSM1708801 rs920608330 |
340 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7932416 rs745668643 |
343 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932419 rs746644870 |
344 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746644870 CA7932420 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771924631 CA7932418 |
344 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7932422 rs761190046 |
347 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs926835789 CA278735644 |
348 | A>T | No |
ClinGen Ensembl |
|
|
rs765797337 CA7932423 |
349 | E>K | No |
ClinGen ExAC |
|
|
CA394914076 rs1369674475 |
351 | T>A | No |
ClinGen gnomAD |
|
|
rs139558360 CA7932425 |
351 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1309752303 CA394914096 |
352 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA394914120 rs1421326683 |
354 | E>K | No |
ClinGen Ensembl |
|
|
rs55796412 CA394914151 |
355 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_061852 rs55796412 CA7932427 |
355 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 356 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7932428 rs755192654 |
357 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932430 rs767590084 |
357 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7932429 rs767590084 |
357 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755192654 CA394914197 |
357 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248393404 CA394914249 |
360 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs913996783 CA278735718 |
360 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 362 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769942396 CA278735731 |
366 | N>S | No |
ClinGen Ensembl |
|
|
rs561009105 CA7932432 |
366 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254591388 CA394914413 |
371 | A>D | No |
ClinGen gnomAD |
|
|
CA394914410 rs1206571440 |
371 | A>S | No |
ClinGen gnomAD |
|
|
CA394914418 rs1262723138 |
372 | V>I | No |
ClinGen TOPMed |
|
|
rs76074663 CA278735747 |
373 | L>F | No |
ClinGen gnomAD |
|
|
CA394914454 rs1256185866 |
375 | A>S | No |
ClinGen gnomAD |
|
|
CA394914451 rs1256185866 |
375 | A>T | No |
ClinGen gnomAD |
|
|
rs1326047377 CA394914461 |
376 | C>R | No |
ClinGen TOPMed |
|
|
CA394914463 rs1326047377 |
376 | C>S | No |
ClinGen TOPMed |
|
|
CA7932435 rs779965673 |
377 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932436 rs746708114 |
378 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1567521846 CA394914483 |
378 | Y>N | No |
ClinGen Ensembl |
|
|
CA394914500 rs1567521855 |
379 | A>T | No |
ClinGen Ensembl |
|
|
CA7932437 rs768376995 |
380 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747697177 CA7932439 |
382 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932441 rs773763509 |
384 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7932442 rs148734728 |
386 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766766707 CA394914615 |
387 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs766766707 COSM967825 CA7932443 |
387 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759783934 CA7932445 |
388 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1229610934 CA394914652 |
389 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1365005711 CA394914649 |
389 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394914682 rs1310984011 |
391 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394914676 rs1310984011 |
391 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394897826 rs1357140202 |
394 | E>A | No |
ClinGen TOPMed |
|
|
rs749839774 CA7932460 |
396 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771463397 CA7932461 |
397 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759961434 CA7932463 |
399 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774776409 CA7932462 |
399 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs775850366 CA7932465 |
401 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529696735 CA394898048 |
402 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372654268 CA7932468 |
406 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376911484 CA278691787 |
407 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751392976 CA7932471 |
410 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932474 rs752432481 |
411 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278691810 rs112947023 |
413 | V>A | No |
ClinGen gnomAD |
|
|
CA394898272 rs112947023 |
413 | V>E | No |
ClinGen gnomAD |
|
|
CA394898321 rs1287293938 |
415 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1222050694 CA394898351 |
417 | A>D | No |
ClinGen gnomAD |
|
|
rs777352678 CA7932476 |
420 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748806025 CA7932477 |
421 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7932479 rs779534768 |
423 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs200081538 CA7932478 |
423 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA278691851 rs894324777 |
424 | I>M | No |
ClinGen Ensembl |
|
|
rs1470546818 CA394898569 |
426 | A>V | No |
ClinGen gnomAD |
|
|
CA394898575 rs1160583917 |
427 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375939261 CA7932480 |
428 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs960279884 CA394898686 |
429 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7932481 rs772528907 |
430 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150991752 CA7932483 |
430 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150991752 CA7932484 |
430 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7932482 rs772528907 |
430 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278691894 rs767945224 |
432 | E>K | No |
ClinGen Ensembl |
|
|
rs73528934 CA7932486 |
437 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73528934 RCV000887036 CA7932485 |
437 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394898942 rs1281273327 |
437 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 439 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7932489 rs759357346 |
441 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394899065 rs1355238435 |
441 | R>H | Variant assessed as Somatic; 4.81e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770845593 CA278691927 |
444 | I>T | No |
ClinGen Ensembl |
|
|
CA394899148 rs1293728532 |
445 | L>F | No |
ClinGen gnomAD |
|
|
rs767391187 CA7932490 |
445 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1395549386 CA394899163 |
446 | R>K | No |
ClinGen TOPMed |
|
|
rs371608918 CA7932509 |
450 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763875145 CA7932511 |
451 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760525015 CA7932510 |
451 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479836545 CA394901422 |
455 | I>M | No |
ClinGen TOPMed |
|
|
CA7932512 rs753531513 |
457 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394901528 rs1400947000 |
459 | V>L | No |
ClinGen gnomAD |
|
|
CA394901597 rs1383518181 |
461 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394901606 rs1383518181 |
461 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394901622 rs749934716 |
462 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7932516 rs757859416 |
463 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1433843414 CA394901695 |
464 | S>A | No |
ClinGen gnomAD |
|
|
CA7932517 rs780439085 |
465 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM228640 rs747505035 CA394901815 |
468 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747505035 CA7932518 |
468 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 469 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 470 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755459876 CA7932520 |
470 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1345545415 CA394901931 |
471 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1345545415 CA394901934 |
471 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7932522 rs748427190 |
472 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 473 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394902050 rs1343681974 |
474 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769927626 CA7932523 |
477 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932524 rs141125913 |
478 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1197460991 CA394902168 |
479 | Y>* | No |
ClinGen gnomAD |
|
|
CA7932525 rs749345037 |
481 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs771034960 CA7932527 |
481 | Q>R | No |
ClinGen ExAC |
|
|
CA7932528 rs146919639 |
482 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394902325 rs1456420784 |
484 | Y>* | No |
ClinGen gnomAD |
|
|
rs199948409 CA7932531 |
485 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1360598017 CA394902576 |
486 | C>Y | No |
ClinGen gnomAD |
|
|
rs1225448369 CA394902607 COSM1288485 |
487 | W>* | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs368193850 CA278695243 |
488 | E>Q | No |
ClinGen ESP |
|
|
CA7932558 rs759073109 |
490 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1596785756 CA394902775 |
491 | V>I | No |
ClinGen Ensembl |
|
|
CA394902812 rs1375378821 |
492 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768139373 CA7932559 |
493 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753247041 CA7932560 |
495 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA278695258 rs137989665 |
496 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7932562 rs149051382 |
498 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7932563 rs754060171 |
499 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747234089 CA278695271 |
499 | M>T | No |
ClinGen Ensembl |
|
|
rs1238940600 CA394903072 |
500 | I>M | No |
ClinGen TOPMed |
|
|
rs779069575 CA7932565 |
502 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs745952131 CA7932566 |
503 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7932568 rs143066959 |
506 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769515785 CA7932570 |
511 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs770737086 CA7932574 |
513 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7932573 rs770737086 |
513 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1272869457 CA394903577 |
518 | K>Q | No |
ClinGen gnomAD |
|
|
rs896797449 CA278696293 |
519 | L>F | No |
ClinGen TOPMed |
|
|
CA394904669 rs1345040465 |
520 | L>P | No |
ClinGen gnomAD |
|
|
CA394904678 rs1290941496 |
521 | V>M | No |
ClinGen gnomAD |
|
|
rs760064593 CA7932598 |
522 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA394904749 rs1364978525 |
523 | Y>* | No |
ClinGen TOPMed |
|
|
rs1283416067 CA394904745 |
523 | Y>C | No |
ClinGen gnomAD |
|
|
rs1283416067 CA394904746 |
523 | Y>F | No |
ClinGen gnomAD |
|
|
rs1283416067 CA394904742 |
523 | Y>S | No |
ClinGen gnomAD |
|
|
rs764669486 CA7932599 |
524 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs776945867 CA7932600 |
524 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057494640 CA278696317 |
525 | S>P | No |
ClinGen TOPMed |
|
|
rs896066075 CA278696327 |
525 | S>Y | No |
ClinGen TOPMed |
|
|
CA7932603 rs765581556 |
527 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA278696351 rs1056091743 |
532 | C>R | No |
ClinGen Ensembl |
|
|
rs746993613 CA278696357 |
533 | W>* | No |
ClinGen Ensembl |
|
|
CA278696363 rs1013535627 |
534 | G>V | No |
ClinGen TOPMed |
|
|
CA7932606 rs766462020 |
534 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA394905233 rs1454525919 |
535 | Q>R | No |
ClinGen TOPMed |
|
|
rs751689013 CA7932607 |
536 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7932608 rs754944246 |
536 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394905302 rs1161778628 |
537 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 538 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373212687 CA7932609 |
539 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757161639 CA7932611 |
544 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894143817 CA278696402 |
546 | G>E | No |
ClinGen gnomAD |
|
|
rs1278391419 CA394905592 |
546 | G>W | No |
ClinGen gnomAD |
|
|
rs745611607 CA7932613 |
547 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA394905690 rs377265197 |
550 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377265197 CA7932616 |
550 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774940659 CA7932615 |
550 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394905715 rs1370004619 |
551 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs768038285 COSM401624 CA7932617 |
553 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs865985673 CA278696424 |
555 | W>* | No |
ClinGen Ensembl |
|
|
rs201258676 CA394905881 |
556 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7932620 rs770193813 |
557 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7932619 rs146407341 |
557 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 558 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368519440 CA394906050 |
561 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766624691 CA7932625 |
562 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932624 rs773587610 |
562 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932623 rs773587610 |
562 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031158853 CA278696464 |
565 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1327648024 CA394906199 |
566 | A>V | No |
ClinGen gnomAD |
|
|
CA278696481 rs1031644166 |
567 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7932627 rs759716632 |
569 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932629 rs753878005 |
570 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369709781 CA394906296 |
572 | F>I | No |
ClinGen TOPMed |
|
|
rs989767147 CA278696534 COSM1678864 |
577 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA278696518 rs958171429 |
577 | Y>H | No |
ClinGen TOPMed |
|
|
rs1373608148 CA394906509 |
579 | K>E | No |
ClinGen TOPMed |
|
|
rs757286456 CA7932631 |
579 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA394906559 COSM3377801 rs1272445232 |
580 | E>A | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs750248394 CA7932634 |
580 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs778958566 CA7932632 |
580 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267604429 CA278700493 |
581 | W>* | No |
ClinGen Ensembl |
|
|
rs763316253 CA7932643 |
581 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394908965 rs763316253 |
581 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932644 rs771184001 |
582 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA278700526 rs1002235052 |
584 | L>V | No |
ClinGen Ensembl |
|
|
rs80212112 CA278700543 |
589 | P>L | No |
ClinGen 1000Genomes |
|
| TCGA novel | 592 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7932646 rs191596442 |
593 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189319255 CA394909163 |
593 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 596 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA278700589 rs1033980531 |
598 | N>K | No |
ClinGen TOPMed |
|
|
CA394909252 rs1173674216 |
598 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 599 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7932650 rs765280176 |
599 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7932651 rs374280693 |
600 | N>D | No |
ClinGen ESP ExAC TOPMed |
|
|
rs758282532 CA7932652 |
601 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA278700600 rs199747420 |
602 | F>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA394909514 rs1281506834 |
610 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394909510 rs1281506834 |
610 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA278700614 CA394909502 rs989767234 COSM434747 |
610 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7932655 rs754607928 |
611 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA278700626 rs749254038 |
612 | C>G | No |
ClinGen Ensembl |
|
|
CA394909628 rs1427935476 |
614 | A>E | No |
ClinGen gnomAD |
|
|
CA7932657 rs780783376 |
618 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932659 rs769232729 CA7932660 |
622 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7932661 rs371960688 |
624 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528003577 CA278700643 |
624 | R>H | No |
ClinGen gnomAD |
|
|
CA394911191 rs1418195690 |
625 | I>F | No |
ClinGen gnomAD |
|
|
CA394911193 rs1418195690 |
625 | I>L | No |
ClinGen gnomAD |
|
|
CA7932677 rs752328966 |
625 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199702842 CA7932678 |
626 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394911198 rs199702842 |
626 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7932680 rs201572722 |
628 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1426429080 CA394911214 |
629 | K>E | No |
ClinGen gnomAD |
|
|
rs571097481 CA7932682 |
633 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7932684 VAR_032280 rs11864159 |
635 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs11864159 CA7932685 |
635 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394911258 rs11864159 |
635 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7932686 rs747204855 |
638 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7932687 rs768907454 |
638 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs868740660 CA278704424 |
640 | T>A | No |
ClinGen TOPMed |
|
|
CA7932689 rs761911212 |
642 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7932690 rs766231320 |
643 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394911353 rs1368026555 |
643 | V>I | No |
ClinGen Ensembl |
|
|
CA394911381 rs1225337850 |
644 | I>M | No |
ClinGen gnomAD |
|
|
rs1002154746 CA278704451 |
645 | P>S | No |
ClinGen TOPMed |
|
|
CA7932691 rs774286557 |
647 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893698064 CA278704462 |
651 | F>L | No |
ClinGen TOPMed |
|
|
CA394911483 rs1195801483 |
653 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767291933 CA7932693 |
654 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767291933 CA394911491 |
654 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA278704481 rs888182935 |
658 | F>L | No |
ClinGen TOPMed |
|
|
rs1371478486 CA394911536 |
661 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7932696 rs763699111 |
661 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA394911538 rs1371478486 |
661 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140650311 CA7932697 |
662 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394911553 rs1298766360 |
664 | S>Y | No |
ClinGen gnomAD |
|
|
CA7932700 COSM967829 rs746381638 |
665 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA394911566 rs1336536272 |
666 | A>D | No |
ClinGen gnomAD |
|
|
CA394911582 rs1383967703 |
668 | A>V | No |
ClinGen gnomAD |
|
|
CA394911611 rs1230596833 |
673 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394911624 rs1567531788 |
674 | I>T | No |
ClinGen Ensembl |
|
|
rs1567531793 CA394911638 |
676 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 676 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7932720 rs370530335 |
679 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7932718 rs750943188 |
679 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377322903 CA7932719 |
679 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 680 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755335346 COSM1678866 CA7932722 |
684 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781327106 CA7932723 |
688 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1198710460 CA394913684 |
688 | A>V | No |
ClinGen gnomAD |
|
|
CA394913690 rs1430269278 |
689 | H>P | No |
ClinGen gnomAD |
|
|
CA7932725 rs374940794 |
691 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM967831 CA7932724 rs760514749 |
691 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394913712 rs1344952585 |
693 | V>F | No |
ClinGen gnomAD |
|
|
CA394913725 rs1454817529 |
695 | Q>* | No |
ClinGen gnomAD |
|
|
CA394913723 rs1454817529 |
695 | Q>K | No |
ClinGen gnomAD |
|
|
CA7932726 rs777884038 |
697 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749314232 CA7932727 |
697 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1318686705 CA394914978 |
704 | S>G | No |
ClinGen gnomAD |
|
|
rs1185596722 COSM1376259 CA394914995 |
705 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1185596722 CA394914992 |
705 | R>G | No |
ClinGen gnomAD |
|
|
CA394914997 rs1220471909 |
705 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 705 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780923439 CA7932769 |
706 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 706 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7932771 rs769462619 |
708 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA7932772 rs773066225 |
708 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7932774 rs143244351 |
709 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748913638 CA7932773 |
709 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7932775 rs774017020 |
713 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394915213 rs1303937928 |
717 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 720 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530741578 CA7932777 |
722 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766687746 CA278708594 |
723 | N>K | No |
ClinGen Ensembl |
|
|
rs775850789 CA7932778 |
723 | N>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q7Z402
1 regional properties for Q7Z402
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | TMC domain | 486 - 597 | IPR012496 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mechanosensitive ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IU68 | TMC8 | Transmembrane channel-like protein 8 | Homo sapiens (Human) | PR |
| Q6UXY8 | TMC5 | Transmembrane channel-like protein 5 | Homo sapiens (Human) | PR |
| Q8TDI8 | TMC1 | Transmembrane channel-like protein 1 | Homo sapiens (Human) | PR |
| Q7Z5M5 | TMC3 | Transmembrane channel-like protein 3 | Homo sapiens (Human) | PR |
| Q8C428 | Tmc7 | Transmembrane channel-like protein 7 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSESSGSALQ | PGRPSRQPAV | HPENLSLDSS | CFSSPPVNFL | QELPSYRSIA | RRRTTVHSRD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KQSGTLLKPT | DSYSSQLEDR | IAENLSSHSL | RNYALNISEK | RRLRDIQETQ | MKYLSEWDQW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KRYSSKSWKR | FLEKAREMTT | HLELWREDIR | SIEGKFGTGI | QSYFSFLRFL | VLLNLVIFLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IFMLVLLPVL | LTKYKITNSS | FVLIPFKDMD | KQCTVYPVSS | SGLIYFYSYI | IDLLSGTGFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EETSLFYGHY | TIDGVKFQNF | TYDLPLAYLL | STIASLALSL | LWIVKRSVEG | FKINLIRSEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HFQSYCNKIF | AGWDFCITNR | SMADLKHSSL | RYELRADLEE | ERMRQKIAER | TSEETIRIYS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LRLFLNCIVL | AVLGACFYAI | YVATVFSQEH | MKKEIDKMVF | GENLFILYLP | SIVITLANFI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TPMIFAKIIR | YEDYSPGFEI | RLTILRCVFM | RLATICVLVF | TLGSKITSCD | DDTCDLCGYN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QKLYPCWETQ | VGQEMYKLMI | FDFIIILAVT | LFVDFPRKLL | VTYCSSCKLI | QCWGQQEFAI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PDNVLGIVYG | QTICWIGAFF | SPLLPAIATL | KFIIIFYVKE | WSLLYTCRPS | PRPFRASNSN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FFFLLVLLIG | LCLAIIPLTI | SISRIPSSKA | CGPFTNFNTT | WEVIPKTVST | FPSSLQSFIH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GVTSEAFAVP | FFMIICLIMF | YFIALAGAHK | RVVIQLREQL | SLESRDKCYL | IQKLTEAQRD |
| MRN |