P26006
PR
Gene name |
ITGA3 (MSK18) |
Protein name |
Integrin alpha-3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3675 |
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 P26006
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P26006-F1 | Predicted | AlphaFoldDB |
818 variants for P26006
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_077512 | 125 | G>R | JEB7 [UniProt] | Yes | UniProt |
|
RCV000734621 CA8641287 RCV002485939 rs201830820 |
203 | G>S | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_077513 rs745505565 CA8641353 |
274 | R>Q | JEB7 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000190470 CA204457 rs797044989 |
463 | R>W | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002489391 rs61730081 RCV000967779 CA8641541 |
474 | V>M | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001289541 rs775389411 |
541 | G>R | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA129955 VAR_068808 rs140781106 RCV000029228 RCV001849284 |
628 | R>P | Nephrotic syndrome Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome JEB7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA250358 RCV000191095 rs540704248 |
658 | T>R | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002481814 RCV001008680 CA8641985 rs200810866 |
875 | R>* | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1255855203 CA400169894 |
2 | G>V | No |
ClinGen TOPMed |
|
|
CA400169914 rs1448114157 |
3 | P>L | No |
ClinGen gnomAD |
|
|
CA400169901 rs1392417094 |
3 | P>T | No |
ClinGen gnomAD |
|
|
rs1598176372 CA400169925 |
4 | G>A | No |
ClinGen Ensembl |
|
|
rs1166311495 CA400169920 |
4 | G>C | No |
ClinGen gnomAD |
|
|
rs1598176378 CA400169943 |
6 | S>R | No |
ClinGen Ensembl |
|
|
rs1466071062 CA400169960 |
6 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1395387268 CA400169982 |
8 | A>S | No |
ClinGen gnomAD |
|
|
rs1367074812 CA400169996 |
9 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA291504027 rs967488958 |
10 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1000803746 CA291504033 |
10 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs967488958 CA400170006 |
10 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1235445914 CA400170025 |
11 | A>S | No |
ClinGen gnomAD |
|
|
rs199862946 CA8641140 |
12 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1209895843 CA400170052 |
13 | R>C | No |
ClinGen gnomAD |
|
|
rs1413591445 CA400170057 |
13 | R>H | No |
ClinGen TOPMed |
|
|
CA400170050 rs1209895843 |
13 | R>S | No |
ClinGen gnomAD |
|
|
rs1463803272 CA400170072 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA400170083 rs975654305 |
15 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA291504074 rs975654305 |
15 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400170078 rs1260551381 |
15 | M>V | No |
ClinGen gnomAD |
|
|
rs1567694320 CA400170095 |
16 | L>I | No |
ClinGen Ensembl |
|
|
rs1177520272 CA400170107 |
16 | L>R | No |
ClinGen gnomAD |
|
|
rs1375423445 CA400170109 |
17 | C>S | No |
ClinGen gnomAD |
|
|
CA291504075 rs922827589 |
18 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778533113 CA8641141 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA291504092 rs955361533 |
22 | M>L | No |
ClinGen Ensembl |
|
|
rs1319667630 CA400170269 |
25 | A>T | No |
ClinGen gnomAD |
|
|
CA291504102 rs868126432 |
25 | A>V | No |
ClinGen Ensembl |
|
|
rs1368499306 CA400170300 |
26 | G>D | No |
ClinGen gnomAD |
|
|
CA400170288 rs1331475975 |
26 | G>S | No |
ClinGen gnomAD |
|
|
rs771778302 CA8641143 |
27 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771778302 CA400170305 |
27 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291504111 rs982451007 |
28 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1226485571 CA400170359 |
29 | V>I | No |
ClinGen TOPMed |
|
|
CA400170398 rs908827953 |
30 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs908827953 CA291504122 |
30 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1436808139 CA400170433 |
31 | S>C | No |
ClinGen TOPMed |
|
|
CA400170448 rs1339531728 |
32 | A>G | No |
ClinGen Ensembl |
|
|
CA400170438 rs1208438727 |
32 | A>S | No |
ClinGen gnomAD |
|
|
CA400170455 rs1349625181 |
33 | F>L | No |
ClinGen TOPMed |
|
|
CA400170505 rs1266410325 |
34 | N>S | No |
ClinGen gnomAD |
|
|
CA400170550 rs1322013575 |
36 | D>Y | No |
ClinGen TOPMed |
|
|
CA400170828 rs1264888789 |
45 | A>T | No |
ClinGen gnomAD |
|
|
rs1158645119 CA400170866 |
46 | G>E | No |
ClinGen TOPMed |
|
|
rs775195327 CA8641145 |
46 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768529626 CA8641147 |
48 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776404147 CA400170955 |
49 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400170956 rs1397021324 |
49 | G>D | No |
ClinGen TOPMed |
|
|
CA8641148 rs776404147 |
49 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400171025 rs1350242105 |
52 | F>V | No |
ClinGen gnomAD |
|
|
CA400171052 rs1191952116 |
53 | G>S | No |
ClinGen TOPMed |
|
|
CA8641149 rs376671926 |
54 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291974535 CA400171101 |
55 | S>T | No |
ClinGen gnomAD |
|
|
rs1598176586 CA400171125 |
56 | V>G | No |
ClinGen Ensembl |
|
|
CA8641151 rs750587035 |
59 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763201490 CA8641152 |
60 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA400171201 rs1290309842 |
60 | R>W | No |
ClinGen gnomAD |
|
|
rs1228312312 CA400171240 |
62 | T>I | No |
ClinGen gnomAD |
|
|
rs1219111120 CA400171230 |
62 | T>P | No |
ClinGen TOPMed |
|
|
CA8641153 rs766723131 |
63 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751924860 CA8641155 |
64 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8641156 rs767963814 |
65 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs753121051 CA8641157 |
65 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1205175248 CA400171321 |
67 | R>C | No |
ClinGen gnomAD |
|
|
CA8641158 rs540556912 |
67 | R>P | No |
ClinGen 1000Genomes ExAC |
|
|
CA400171328 rs1253345733 |
68 | Y>C | No |
ClinGen gnomAD |
|
|
rs767757449 CA8641175 |
70 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs753168663 CA8641176 |
72 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 72 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8641177 rs756506968 |
73 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs752236693 | 76 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201210478 CA8641182 |
76 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1710456 rs142527278 CA8641181 COSM1710457 |
76 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8641184 rs374957307 |
79 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400172428 rs1207920463 |
80 | V>M | No |
ClinGen gnomAD |
|
|
rs151313937 CA8641186 |
82 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246367618 CA400172468 |
83 | G>D | No |
ClinGen gnomAD |
|
|
rs961154661 CA291508953 |
84 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA400172492 rs1191770568 |
85 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749281724 CA8641189 |
87 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8641190 rs749281724 |
87 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773316495 CA8641188 |
87 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972830593 CA291509004 |
91 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429586302 CA400172638 |
101 | D>H | No |
ClinGen gnomAD |
|
|
rs1429586302 CA400172636 |
101 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1275134785 CA400172653 |
102 | D>G | No |
ClinGen gnomAD |
|
|
rs1190959541 CA400172647 |
102 | D>N | No |
ClinGen TOPMed |
|
|
rs755645591 CA8641194 |
103 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1598181320 CA400172659 |
103 | C>R | No |
ClinGen Ensembl |
|
|
CA400172677 rs1257814741 |
104 | E>G | No |
ClinGen TOPMed |
|
|
rs1486430372 CA400172672 |
104 | E>K | No |
ClinGen TOPMed |
|
|
CA8641195 rs368933755 |
105 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920003095 CA291509029 |
105 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs761122479 CA8641196 |
106 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1266008788 CA400172714 |
107 | N>T | No |
ClinGen gnomAD |
|
|
rs61730091 CA8641197 |
110 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8641224 rs367769075 |
115 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8641225 rs753687091 |
116 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400172893 rs1241674844 |
117 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs866575640 CA291509502 |
119 | I>V | No |
ClinGen gnomAD |
|
|
rs757198429 CA8641226 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779015964 CA8641227 |
122 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745894611 CA8641228 |
124 | L>F | No |
ClinGen ExAC |
|
|
rs1165668996 CA400173051 |
129 | A>V | No |
ClinGen gnomAD |
|
|
CA8641229 rs372201503 |
130 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336154761 CA400173092 |
132 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780044729 CA8641230 |
132 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8641231 rs747252739 |
133 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA400173124 rs1298559474 |
136 | R>G | No |
ClinGen gnomAD |
|
|
CA8641233 rs578168264 |
136 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8641234 rs762187430 |
137 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA400173648 rs1433226160 |
139 | V>I | No |
ClinGen gnomAD |
|
|
rs567819625 CA8641257 |
141 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368137808 CA8641258 |
143 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763799707 CA8641259 |
143 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763799707 CA400173701 |
143 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291514431 rs946000001 |
148 | L>M | No |
ClinGen TOPMed |
|
|
CA400173746 rs946000001 |
148 | L>V | No |
ClinGen TOPMed |
|
|
CA8641260 rs776392266 |
152 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8641261 rs761605539 |
154 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1391760760 CA400173830 |
155 | Q>* | No |
ClinGen gnomAD |
|
|
CA8641263 rs750191749 |
156 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8641262 rs369557937 |
156 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557579280 CA8641264 |
157 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766249771 CA8641265 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8641267 rs755023428 |
162 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8641269 rs536809708 |
164 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756398910 CA8641270 |
165 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756398910 CA400174016 |
165 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400174049 rs778130201 |
165 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778130201 CA8641271 |
165 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8641272 rs749625688 |
167 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641273 rs771415485 |
174 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA400174242 rs1245497155 |
174 | S>R | No |
ClinGen TOPMed |
|
|
CA400174352 rs1410120756 |
179 | T>P | No |
ClinGen gnomAD |
|
|
CA400174368 rs1417040242 |
179 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774748370 CA8641274 |
182 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8641276 rs768258066 |
183 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs377525741 CA8641277 |
186 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769346492 CA8641279 |
189 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773012066 CA8641280 |
190 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8641282 rs766240466 |
194 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8641284 rs759529676 |
195 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400174767 rs1247696017 COSM1177542 COSM1177541 |
195 | G>V | endometrium prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA291514542 rs1037557583 |
196 | M>T | No |
ClinGen Ensembl |
|
|
rs1567698300 CA400174812 |
197 | C>S | No |
ClinGen Ensembl |
|
|
rs1358065710 CA400174895 |
201 | T>I | No |
ClinGen gnomAD |
|
|
CA400174920 rs752776395 |
202 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400175000 rs1176617962 |
206 | T>N | No |
ClinGen gnomAD |
|
|
rs754188314 CA8641289 |
207 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400175075 rs1467541406 |
211 | Y>H | No |
ClinGen gnomAD |
|
|
CA8641293 rs772771598 |
213 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747684621 CA8641295 |
214 | A>T | Variant assessed as Somatic; 0.0002841 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8641297 rs772933610 |
216 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 216 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8641298 rs762718345 |
219 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA400175218 rs1274495421 |
220 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA291514626 rs1014254077 |
221 | K>Q | No |
ClinGen Ensembl |
|
|
rs1188769914 CA400175290 |
222 | G>R | No |
ClinGen TOPMed |
|
|
CA400175491 rs1314270953 |
226 | M>I | No |
ClinGen gnomAD |
|
|
CA400175480 rs1176410654 |
226 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs137929880 CA8641317 |
228 | Q>H | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 228 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770624378 CA8641316 |
228 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770624378 CA291516257 |
228 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140829923 COSM189304 CA8641318 |
229 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140829923 CA291516281 |
229 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008005015 CA291516295 |
231 | E>K | No |
ClinGen Ensembl |
|
|
rs775371538 CA8641320 |
232 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | S>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539540896 COSM1384137 CA8641321 COSM77909 |
235 | S>P | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA400175586 rs1303237540 |
235 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA400175606 rs1346923588 |
237 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1019838935 CA291516299 |
237 | Y>H | No |
ClinGen Ensembl |
|
|
rs1282614352 CA400175649 |
240 | K>N | No |
ClinGen gnomAD |
|
|
CA400175662 rs1251191688 |
241 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 241 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8641323 rs776835697 |
242 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641324 rs557617782 |
242 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641325 rs765579449 |
244 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA400175686 rs1282362885 |
244 | D>N | No |
ClinGen gnomAD |
|
|
rs750779502 CA8641326 |
245 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs769430191 CA291516329 |
249 | Y>C | No |
ClinGen Ensembl |
|
|
rs1489894968 CA400175749 |
249 | Y>H | No |
ClinGen gnomAD |
|
|
CA8641344 rs773547087 |
252 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA400175868 rs1162392472 |
253 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA291516721 rs957092154 |
254 | M>I | No |
ClinGen Ensembl |
|
|
CA8641348 rs141746825 |
254 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs768088650 CA8641349 |
256 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA400175929 rs1326830659 |
257 | G>D | No |
ClinGen gnomAD |
|
|
rs753243623 CA8641350 |
258 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400175978 rs1396317407 |
260 | I>V | No |
ClinGen TOPMed |
|
|
CA8641351 rs756726866 |
262 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1366614914 CA400176043 |
263 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380877482 CA400176085 |
265 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
VAR_055967 CA291516741 rs2230390 |
268 | I>F | No |
ClinGen UniProt 1000Genomes dbSNP |
|
|
CA8641352 rs778440230 |
268 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA291516757 rs961612470 |
274 | R>W | No |
ClinGen TOPMed |
|
|
rs777480064 CA291516768 |
276 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746528236 CA8641354 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746833221 CA8641356 |
278 | M>I | No |
ClinGen ExAC gnomAD |
|
|
COSM472978 CA8641355 COSM1135958 rs779646280 |
278 | M>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA291516796 rs919564171 |
278 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148050628 CA8641358 |
280 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1384143 COSM1384142 rs141797951 CA8641359 |
280 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773496015 CA8641362 |
284 | L>M | No |
ClinGen ExAC TOPMed |
|
|
CA291516818 rs773496015 |
284 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs1236713163 CA400176469 |
286 | Q>E | No |
ClinGen TOPMed |
|
|
CA8641363 rs763203601 |
287 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1325245191 CA400176489 |
287 | E>K | No |
ClinGen gnomAD |
|
|
rs1395712640 CA400176535 |
288 | A>V | No |
ClinGen gnomAD |
|
|
RCV001009285 rs1598186840 |
289 | G>missing | No |
ClinVar dbSNP |
|
|
CA400176545 rs1371976121 |
289 | G>D | No |
ClinGen TOPMed |
|
|
CA8641365 rs774533994 |
290 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1403727013 CA400176601 |
291 | D>V | No |
ClinGen gnomAD |
|
|
CA291516836 rs752451792 |
292 | L>P | No |
ClinGen Ensembl |
|
|
CA8641368 rs546685892 |
293 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8641367 rs759973429 |
293 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400176720 rs1205896489 |
298 | L>R | No |
ClinGen gnomAD |
|
|
CA8641371 rs150595761 |
301 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400176785 rs1262034697 |
302 | Q>* | No |
ClinGen gnomAD |
|
|
CA291516849 rs56320412 |
302 | Q>H | No |
ClinGen Ensembl |
|
|
CA8641375 rs751211130 |
305 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641374 rs751211130 |
305 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400176852 rs1422755916 |
305 | A>V | No |
ClinGen gnomAD |
|
|
rs367698113 CA8641377 |
310 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000963368 rs61730088 CA8641378 |
310 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777946030 CA8641379 |
312 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8641380 rs749405129 |
312 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777892581 CA8641396 |
322 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1011868262 CA291517379 |
323 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1402955015 CA400178216 |
326 | V>A | No |
ClinGen TOPMed |
|
|
CA8641398 rs757333788 |
328 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641400 rs746096651 |
333 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400178466 rs772187398 |
334 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA400178479 rs1162158446 |
334 | R>S | No |
ClinGen gnomAD |
|
|
CA8641401 rs772187398 |
334 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs747397146 CA8641403 |
340 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs769110428 CA8641404 |
342 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641405 rs560139902 |
343 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400178755 rs1219237264 |
344 | V>I | No |
ClinGen TOPMed |
|
|
rs1386119908 CA400178779 |
345 | F>L | No |
ClinGen gnomAD |
|
|
rs765910090 CA8641407 |
346 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA291517423 rs773739927 |
348 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400178927 rs773739927 |
348 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641408 rs773739927 |
348 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641409 rs759172421 |
349 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140821385 CA8641411 |
352 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549115710 CA8641413 |
354 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1312269788 CA400179205 |
362 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247443892 CA400179203 |
362 | H>Y | No |
ClinGen gnomAD |
|
|
rs1205106961 CA400179234 |
363 | G>D | No |
ClinGen gnomAD |
|
|
COSM1384151 CA8641415 rs757205480 COSM1384150 |
364 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA400179277 rs1433442456 |
365 | S>N | No |
ClinGen TOPMed |
|
|
rs61730085 RCV000965387 CA8641417 |
371 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs538397377 CA291517481 |
373 | V>L | No |
ClinGen 1000Genomes |
|
|
rs780284856 CA8641419 |
376 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8641420 rs200979989 |
384 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598188619 CA400179706 |
387 | I>T | No |
ClinGen Ensembl |
|
|
CA8641446 rs771691787 |
391 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8641448 rs760335644 |
392 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 393 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199203710 CA400179738 |
393 | F>L | No |
ClinGen TOPMed |
|
|
CA400179745 rs1299171382 |
394 | E>K | No |
ClinGen gnomAD |
|
|
rs776437753 CA8641450 |
395 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641452 rs765120355 |
395 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641451 rs776437753 |
395 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400180163 rs1172366309 |
397 | G>D | No |
ClinGen gnomAD |
|
|
CA400180203 rs762945257 |
400 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368191702 CA8641453 |
400 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400180209 rs1413441010 |
401 | I>L | No |
ClinGen gnomAD |
|
|
rs1160902932 CA400180228 |
402 | Y>C | No |
ClinGen gnomAD |
|
|
rs1418601063 CA400180254 |
403 | H>P | No |
ClinGen gnomAD |
|
|
CA400180235 rs1358041120 |
403 | H>Y | No |
ClinGen gnomAD |
|
|
CA400180330 rs1349616510 |
406 | S>C | No |
ClinGen Ensembl |
|
|
CA8641457 rs755146298 |
410 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs909032691 CA291518800 |
413 | P>R | No |
ClinGen TOPMed |
|
|
rs1225657107 CA400180464 |
413 | P>T | No |
ClinGen gnomAD |
|
|
rs1038851543 CA291518955 |
416 | V>A | No |
ClinGen Ensembl |
|
|
rs772836425 CA8641490 |
418 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8641494 rs770756249 |
420 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749115741 CA8641493 |
420 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA400180715 rs774253538 |
421 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774253538 CA8641495 |
421 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 424 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176277610 CA400180760 |
425 | P>S | No |
ClinGen gnomAD |
|
|
CA400180778 rs1342097875 |
426 | G>R | No |
ClinGen gnomAD |
|
|
CA8641498 rs775640037 |
428 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs575130011 CA8641499 |
429 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754213910 CA8641501 |
431 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641502 rs757664252 |
432 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1186241368 CA400180935 |
434 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1004901363 CA291519009 |
435 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750952837 CA8641504 |
437 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1159669379 CA400180995 |
437 | Q>R | No |
ClinGen gnomAD |
|
|
rs1016251016 CA291519015 |
438 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400181110 rs1301349733 |
445 | Y>H | No |
ClinGen TOPMed |
|
|
CA400181140 rs1598188993 |
447 | D>A | No |
ClinGen Ensembl |
|
|
CA8641507 rs61730084 |
450 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400181179 rs1395462683 |
452 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777452976 CA8641509 |
453 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA400181182 rs777452976 |
453 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA400181189 rs1328332723 |
454 | S>L | No |
ClinGen gnomAD |
|
|
rs554367981 CA8641510 |
455 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8641511 rs770703080 |
457 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA291519113 rs963624366 |
457 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA291519118 rs963624366 |
457 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8641512 rs770703080 |
457 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs151126162 CA291519120 |
460 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772057144 CA8641514 |
461 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 461 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185439534 CA8641533 |
463 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM189305 rs140792604 CA8641536 |
465 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400181320 rs1241720454 |
467 | N>K | No |
ClinGen TOPMed |
|
|
CA400181330 rs1180951579 |
468 | I>T | No |
ClinGen TOPMed |
|
|
CA8641538 rs762069696 |
469 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641539 rs770163150 |
470 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1437845952 CA400181346 |
470 | H>Y | No |
ClinGen gnomAD |
|
|
rs1252770662 CA400181358 |
471 | K>E | No |
ClinGen gnomAD |
|
|
rs773673876 CA8641540 |
472 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307190806 CA400181426 |
478 | A>T | No |
ClinGen gnomAD |
|
|
CA400181504 rs1307875890 |
484 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1223637668 CA400181528 |
486 | T>M | No |
ClinGen gnomAD |
|
|
rs537349318 CA400181532 |
487 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8641546 rs537349318 |
487 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764501595 CA8641547 |
487 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456607845 CA400181538 |
488 | T>N | No |
ClinGen gnomAD |
|
|
CA400181584 rs1567701002 |
493 | V>L | No |
ClinGen Ensembl |
|
|
CA400181583 rs1567701002 |
493 | V>M | No |
ClinGen Ensembl |
|
|
COSM1588958 rs758053447 CA8641567 COSM980910 |
495 | L>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 495 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184647273 CA400181631 |
500 | N>H | No |
ClinGen TOPMed |
|
|
rs751333449 CA8641569 |
500 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA400181642 rs1263914842 |
501 | Q>R | No |
ClinGen gnomAD |
|
|
CA8641571 rs781242556 |
503 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140295782 CA8641573 |
504 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8641574 rs777779321 |
506 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777779321 CA400181672 |
506 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs749457048 CA8641575 |
507 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400181693 rs1272218439 |
509 | R>W | No |
ClinGen gnomAD |
|
|
CA400181699 rs1272508106 |
510 | R>* | No |
ClinGen TOPMed |
|
|
CA8641576 rs771067444 |
510 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA291520255 rs936293430 |
513 | T>I | No |
ClinGen Ensembl |
|
|
CA8641597 rs772415262 |
515 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA400181752 rs987503159 |
517 | T>P | No |
ClinGen TOPMed |
|
|
CA291520273 rs987503159 |
517 | T>S | No |
ClinGen TOPMed |
|
|
rs546962561 CA8641600 |
522 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400181788 rs772737546 |
522 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400181793 rs1598190243 |
523 | D>A | No |
ClinGen Ensembl |
|
|
rs566775051 CA8641602 |
524 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8641603 rs566775051 |
524 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8641604 rs377276495 |
524 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291520314 rs377276495 |
524 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370814972 CA291520315 |
525 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs920862422 CA291520335 |
525 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370814972 CA8641605 |
525 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8641607 rs534974920 |
526 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400181808 rs199811850 |
527 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs199811850 CA291520399 |
527 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs753858275 CA8641610 |
528 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757264679 CA8641611 |
530 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641612 rs779109438 |
530 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400181825 rs779109438 |
530 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641617 rs377600580 |
533 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8641618 rs781527442 |
533 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8641616 rs377600580 |
533 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770339899 CA8641620 |
534 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8641619 rs748746146 |
534 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641621 rs774000281 |
535 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1329608923 CA400181849 |
535 | E>K | No |
ClinGen gnomAD |
|
|
CA400181864 rs1286402594 |
537 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1317442183 CA400181868 |
538 | V>I | No |
ClinGen TOPMed |
|
|
rs775389411 CA8641624 |
541 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1259080785 CA400181900 |
542 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 542 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897486528 CA291520469 |
544 | S>P | No |
ClinGen Ensembl |
|
|
rs374952208 CA291520478 |
545 | M>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 546 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143180069 CA291520485 |
547 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA400181943 rs1291079824 |
548 | M>I | No |
ClinGen gnomAD |
|
|
COSM1610439 COSM1610440 CA8641626 rs371385671 |
549 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8641628 rs557263701 |
549 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557263701 CA8641627 |
549 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs879252927 CA291520499 |
551 | Q>R | No |
ClinGen Ensembl |
|
|
rs894355577 CA291520503 |
552 | K>N | No |
ClinGen Ensembl |
|
|
rs1238773673 CA400181997 |
556 | L>F | No |
ClinGen gnomAD |
|
|
rs372114389 CA8641652 |
560 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767714553 CA8641654 |
562 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8641655 rs753123658 |
562 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753123658 CA400182513 |
562 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400182517 rs1286190420 |
563 | D>N | No |
ClinGen gnomAD |
|
|
CA8641658 rs777597673 |
566 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1740371 COSM1740372 rs998657043 CA291522543 |
569 | I>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs779780078 CA8641660 |
570 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8641661 rs746576815 |
571 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8641662 rs768370616 |
572 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1052858622 CA291522562 |
579 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1052858622 CA400182657 |
579 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA400182656 rs1208672209 |
579 | R>W | No |
ClinGen TOPMed |
|
|
rs1388912784 CA400182665 |
580 | M>I | No |
ClinGen gnomAD |
|
|
rs112452978 CA8641663 |
580 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs112452978 CA291522580 |
580 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1298163719 CA400182660 |
580 | M>V | No |
ClinGen gnomAD |
|
|
rs748006644 CA8641664 |
581 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1309325691 CA400182674 |
582 | D>G | No |
ClinGen gnomAD |
|
|
rs1050911758 CA291522604 |
582 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA400182680 rs1355277546 |
583 | R>C | No |
ClinGen gnomAD |
|
|
CA291522605 rs762942917 |
585 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs762942917 CA8641667 |
585 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8641666 rs773119211 |
585 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774498970 CA8641669 |
587 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766377906 CA8641668 |
587 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774498970 CA400182700 |
587 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377230398 CA8641670 |
589 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377230398 CA400182708 |
589 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400182706 rs1265090857 |
589 | R>W | No |
ClinGen gnomAD |
|
|
rs147491290 CA8641672 |
592 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8641673 rs756528458 |
593 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs756528458 COSM386823 CA400182728 |
593 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754394137 CA8641675 |
595 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400182741 rs1177946522 |
595 | P>T | No |
ClinGen TOPMed |
|
|
CA400182764 rs1338154610 |
598 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA291522636 rs1004061347 |
599 | Q>E | No |
ClinGen TOPMed |
|
|
rs1459710388 CA400182771 |
599 | Q>R | No |
ClinGen gnomAD |
|
|
CA8641676 rs368111146 |
600 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779375369 CA8641677 |
601 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751102319 CA8641678 |
603 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463930977 CA400182794 |
603 | L>V | No |
ClinGen TOPMed |
|
|
CA400182817 rs1449787166 |
606 | H>R | No |
ClinGen gnomAD |
|
|
CA400182824 rs1210836672 |
607 | T>N | No |
ClinGen TOPMed |
|
|
RCV000949822 CA8641726 rs143785911 |
610 | Q>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143785911 CA291522971 |
610 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1407594371 CA400182886 |
614 | E>A | No |
ClinGen TOPMed |
|
|
rs11545791 CA291522974 |
615 | C>F | No |
ClinGen Ensembl |
|
|
CA400182899 rs1214163511 |
616 | G>R | No |
ClinGen gnomAD |
|
|
CA8641728 rs757065777 |
622 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs564166433 CA8641729 |
624 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA291522980 rs1036907220 |
624 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs745754056 CA8641730 |
625 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA400182971 rs758284330 RCV000722469 |
626 | Q>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs758284330 CA8641731 |
626 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641733 rs140781106 |
628 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400182987 rs780234135 |
628 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434330703 CA400182996 |
630 | A>T | No |
ClinGen gnomAD |
|
|
rs577826992 CA8641734 RCV000929277 |
630 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA8641736 rs776971185 |
631 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420198778 CA400183008 |
632 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1268390942 CA400183028 |
635 | Q>K | No |
ClinGen TOPMed |
|
|
CA400183041 rs1343165986 |
636 | Q>R | No |
ClinGen gnomAD |
|
|
rs1908920447 RCV001291583 |
638 | K>* | No |
ClinVar dbSNP |
|
|
CA8641738 rs770129619 |
638 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 641 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8641739 rs763467689 |
641 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA400183089 rs1456626921 |
641 | R>S | No |
ClinGen gnomAD |
|
|
rs1567701857 CA400183093 |
642 | L>F | No |
ClinGen Ensembl |
|
|
rs889872090 CA291523119 |
643 | Q>K | No |
ClinGen Ensembl |
|
|
CA400183105 rs1415646290 |
643 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1415646290 CA400183112 |
643 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA291523126 rs944103000 |
644 | Y>H | No |
ClinGen gnomAD |
|
|
CA8641760 rs774823234 |
645 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 645 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373846681 CA8641761 |
645 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400183163 rs1182480165 |
646 | R>G | No |
ClinGen TOPMed |
|
|
CA8641763 rs763530185 |
647 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 647 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400183221 rs1272894444 |
648 | V>D | No |
ClinGen TOPMed |
|
|
TCGA novel rs1598191698 CA400183216 |
648 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs764829291 CA8641765 |
649 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400183229 rs1335301555 |
649 | R>W | No |
ClinGen gnomAD |
|
|
CA8641766 rs750130370 |
653 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8641767 rs762635097 |
656 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA400183434 CA291523191 rs778649117 |
657 | V>L | No |
ClinGen TOPMed |
|
|
CA8641769 rs540704248 |
658 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641770 rs754977468 |
661 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs376118706 CA291523208 |
661 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8641771 rs376118706 |
661 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400183548 rs754977468 |
661 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8641772 rs752750858 |
662 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs143134783 CA8641773 |
663 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400183659 rs1474067325 |
665 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 666 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424148876 CA400183690 |
667 | G>R | No |
ClinGen gnomAD |
|
|
rs749579801 CA8641775 |
668 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400183738 rs1375929078 |
669 | D>N | No |
ClinGen gnomAD |
|
|
CA400183775 rs1395799557 |
670 | A>T | No |
ClinGen gnomAD |
|
|
rs1415121833 CA400183802 |
670 | A>V | No |
ClinGen gnomAD |
|
|
rs1159312701 CA400183817 |
671 | H>Y | No |
ClinGen TOPMed |
|
|
rs1472058618 CA400183844 |
672 | E>* | No |
ClinGen TOPMed |
|
|
rs1414773619 CA400183874 |
673 | A>T | No |
ClinGen gnomAD |
|
|
CA400183887 rs1279207124 |
673 | A>V | No |
ClinGen gnomAD |
|
|
CA8641778 rs746318674 |
676 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA400183948 rs1338113666 |
676 | T>I | No |
ClinGen gnomAD |
|
|
rs1281932004 CA400183966 |
678 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400183998 rs1210139456 |
679 | V>L | No |
ClinGen gnomAD |
|
|
rs1263593458 CA400184029 |
680 | P>A | No |
ClinGen gnomAD |
|
|
CA400184034 rs1263593458 |
680 | P>S | No |
ClinGen gnomAD |
|
|
CA400184081 rs1191227688 |
682 | A>S | No |
ClinGen gnomAD |
|
|
rs1598191877 CA400184133 |
684 | L>P | No |
ClinGen Ensembl |
|
|
rs970217959 CA291523256 |
686 | S>T | No |
ClinGen Ensembl |
|
|
rs773643680 CA8641782 |
687 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400184201 rs1362794303 |
689 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1362794303 CA400184206 |
689 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs770739153 CA8641803 |
691 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762643664 CA8641802 |
691 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 692 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955766526 CA291523542 |
696 | A>G | No |
ClinGen Ensembl |
|
|
CA8641806 rs767399419 |
698 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 698 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8641808 rs760662602 |
699 | T>A | No |
ClinGen ExAC |
|
|
CA400184496 rs1463368807 |
700 | I>S | No |
ClinGen gnomAD |
|
|
CA8641809 rs764025725 |
700 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641810 rs753977307 |
702 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 703 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391826569 CA400184550 |
703 | E>K | No |
ClinGen gnomAD |
|
|
CA291523554 rs776103429 |
704 | L>P | No |
ClinGen gnomAD |
|
|
CA291523560 rs150859050 |
708 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758989637 CA291523561 |
709 | K>E | No |
ClinGen Ensembl |
|
|
rs1389562806 CA400184689 |
710 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395630478 CA400186074 |
714 | M>I | No |
ClinGen TOPMed |
|
|
CA400186070 rs1226776026 |
714 | M>T | No |
ClinGen gnomAD |
|
|
rs1391762075 CA400186061 |
714 | M>V | No |
ClinGen TOPMed |
|
|
rs2230392 VAR_055968 CA8641834 |
719 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA400186200 rs1423946104 |
722 | V>I | No |
ClinGen gnomAD |
|
|
rs369544594 CA8641838 CA8641839 |
724 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598192755 CA400186250 |
725 | V>G | No |
ClinGen Ensembl |
|
|
CA8641841 rs771781219 |
725 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8641842 rs775110407 |
726 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248982463 CA400186283 |
728 | H>R | No |
ClinGen TOPMed |
|
|
rs776536254 CA8641845 |
729 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs761806494 CA8641846 |
730 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8641847 rs201060499 |
730 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400186366 rs773294963 |
733 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 733 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598192805 CA400186378 |
734 | V>G | No |
ClinGen Ensembl |
|
|
CA8641849 rs139340161 |
734 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8641850 COSM1210988 rs766591984 COSM1210989 |
736 | L>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA291524102 rs1049951055 |
737 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs759928378 CA8641852 |
740 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774623595 CA8641868 |
741 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400186639 rs1277552837 |
743 | H>Q | No |
ClinGen TOPMed |
|
|
rs369201492 CA8641870 |
745 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8641871 rs753132584 |
746 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400186710 rs1302854967 |
746 | N>S | No |
ClinGen gnomAD |
|
|
CA8641872 rs761225733 |
748 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs764667316 CA8641873 |
752 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA400186913 rs1316730126 |
753 | T>A | No |
ClinGen gnomAD |
|
|
CA291524240 rs140184379 |
753 | T>S | No |
ClinGen ESP |
|
|
rs757916720 CA8641875 |
756 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400187031 rs1263215616 |
758 | Y>C | No |
ClinGen gnomAD |
|
|
CA8641876 rs779498119 |
759 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA400187054 rs1191204712 |
759 | T>K | No |
ClinGen gnomAD |
|
|
CA400187060 rs1366703923 |
760 | L>F | No |
ClinGen TOPMed |
|
|
rs1030931255 CA291524256 |
763 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA400187196 rs1470452211 |
764 | L>F | No |
ClinGen gnomAD |
|
|
rs1405455294 CA400187229 |
765 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs780918381 CA8641879 |
765 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777430880 CA8641899 |
769 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8641901 rs149681183 |
770 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200113398 CA8641900 |
770 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779009108 CA8641902 |
774 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772329786 CA8641904 |
776 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772329786 COSM3402987 CA400187706 COSM3402986 |
776 | G>E | central_nervous_system Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs542802167 RCV000879357 CA8641903 |
776 | G>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA400187722 rs1476552390 |
777 | G>E | No |
ClinGen gnomAD |
|
|
CA400187727 rs1382864831 |
778 | T>A | No |
ClinGen TOPMed |
|
|
CA8641907 rs769076789 |
780 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA400187778 rs1361472135 |
782 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1176098282 CA400187791 |
784 | G>D | No |
ClinGen gnomAD |
|
|
rs1176098282 CA400187793 |
784 | G>V | No |
ClinGen gnomAD |
|
|
rs1373962812 CA400187798 |
785 | M>T | No |
ClinGen gnomAD |
|
|
CA291524606 rs573605673 |
788 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1326639595 CA400187838 |
791 | V>I | No |
ClinGen gnomAD |
|
|
CA400187856 rs762333985 |
793 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174089345 CA400187860 |
794 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8641910 rs765695966 |
795 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA291524620 rs200176117 |
796 | K>E | No |
ClinGen Ensembl |
|
|
rs200507065 CA8641911 |
796 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1199661906 CA400187886 |
798 | E>A | No |
ClinGen gnomAD |
|
|
rs773584492 CA8641931 |
802 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1267745485 CA400187944 |
803 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 803 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146671278 CA8641932 |
804 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400187965 rs771512483 |
805 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771512483 CA8641933 |
805 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA8641934 rs775002993 |
806 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA400187971 rs1159713169 |
806 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA400187984 rs1365860533 |
807 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753578222 CA8641937 |
809 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs763620688 CA8641936 |
809 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1387451037 CA400188032 |
812 | G>R | No |
ClinGen gnomAD |
|
|
CA8641939 rs765147018 |
813 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs761500991 CA8641938 |
813 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA291524814 rs1001155779 |
815 | V>L | No |
ClinGen Ensembl |
|
|
CA400188088 rs1464660156 |
818 | L>M | No |
ClinGen gnomAD |
|
|
CA400188102 rs1307629399 |
819 | E>K | No |
ClinGen gnomAD |
|
|
rs1394721282 TCGA novel CA400188133 |
820 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA400188153 rs1163722323 |
822 | Y>C | No |
ClinGen TOPMed |
|
|
CA291524847 rs964967440 |
823 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA400188178 rs1262996388 |
824 | V>I | No |
ClinGen Ensembl |
|
|
rs1287551275 CA400188209 |
826 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1183075565 CA400188204 |
826 | N>Y | No |
ClinGen TOPMed |
|
|
CA8641943 rs751722992 |
828 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8641944 rs755127446 |
828 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs781255132 CA8641945 |
829 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA400188281 rs1598193773 |
829 | W>C | No |
ClinGen Ensembl |
|
|
CA400188285 rs1196831153 |
830 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1598193780 CA400188299 |
831 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 832 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA291524860 rs867027896 |
834 | T>A | No |
ClinGen Ensembl |
|
|
CA8641946 rs140248487 |
834 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778119341 CA8641948 |
837 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1598193802 CA400188408 |
837 | T>P | No |
ClinGen Ensembl |
|
|
CA8641950 rs370218357 |
838 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400188444 rs1262204620 |
839 | H>Y | No |
ClinGen TOPMed |
|
|
CA8641951 RCV000895482 VAR_055969 rs2301626 |
840 | G>S | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs374741808 CA8641952 |
841 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1298317136 CA400188506 |
842 | G>E | No |
ClinGen gnomAD |
|
|
rs150967831 CA8641953 |
842 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389650983 CA400188543 |
845 | P>A | No |
ClinGen gnomAD |
|
|
rs776144991 CA8641954 |
847 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207457594 CA400188569 |
847 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761531265 CA8641955 |
848 | P>S | No |
ClinGen ExAC |
|
|
CA400188594 rs1355888304 |
849 | P>S | No |
ClinGen gnomAD |
|
|
rs1324703259 CA400188629 |
852 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 858 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8641957 rs750270451 |
859 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400188738 rs1321130178 |
860 | L>F | No |
ClinGen gnomAD |
|
|
CA291524953 rs868017218 |
861 | S>F | No |
ClinGen TOPMed |
|
|
CA8641974 rs773041975 |
862 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1255820460 CA400188788 |
863 | P>L | No |
ClinGen gnomAD |
|
|
rs1482705540 CA400188793 |
864 | G>E | No |
ClinGen gnomAD |
|
|
rs1043973764 CA400188829 |
867 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA291525103 rs1043973764 |
867 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA400188823 rs1260763751 |
867 | P>T | No |
ClinGen TOPMed |
|
|
CA8641976 rs766341948 |
868 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs774360825 CA8641977 |
868 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267604940 CA8641978 |
869 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1454469729 CA400188875 |
872 | R>C | No |
ClinGen gnomAD |
|
|
rs181516352 CA8641980 |
872 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757614915 CA400188899 |
874 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs757614915 CA8641984 |
874 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8641983 rs371695378 |
874 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534635014 CA400188911 |
875 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534635014 CA8641986 |
875 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1317921674 CA400188920 |
876 | Q>* | No |
ClinGen gnomAD |
|
|
CA400188935 rs1215990136 |
877 | L>V | No |
ClinGen gnomAD |
|
|
rs201311537 CA291525221 |
879 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1463321004 CA400188967 |
880 | G>R | No |
ClinGen gnomAD |
|
|
CA400188982 rs1207542438 |
881 | G>R | No |
ClinGen gnomAD |
|
|
rs1253144197 CA400188995 |
882 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400189023 rs573906112 |
883 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8641988 rs780531227 |
883 | Q>R | No |
ClinGen ExAC |
|
|
CA8641991 rs769479780 |
884 | G>A | No |
ClinGen ExAC |
|
|
CA400189025 rs1424151086 |
884 | G>S | No |
ClinGen gnomAD |
|
|
CA400189047 rs1161101004 |
885 | P>H | No |
ClinGen gnomAD |
|
|
CA400189077 rs1456957678 |
887 | P>L | No |
ClinGen gnomAD |
|
|
rs1598194226 CA400189066 |
887 | P>T | No |
ClinGen Ensembl |
|
|
CA8641993 rs748950147 |
888 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758914820 CA291525240 |
888 | V>L | No |
ClinGen gnomAD |
|
|
rs200319164 CA8641994 |
889 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8641995 rs774213708 |
892 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225827838 CA400189134 |
893 | A>T | No |
ClinGen gnomAD |
|
|
CA8641996 rs138887186 |
893 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs532852443 CA291525254 |
895 | K>I | No |
ClinGen Ensembl |
|
|
CA400189184 rs1227446084 |
896 | A>D | No |
ClinGen gnomAD |
|
|
rs767456891 CA8641997 |
896 | A>T | No |
ClinGen ExAC |
|
|
rs141454397 CA291525272 |
897 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA400189219 rs1420312966 |
898 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 898 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362069225 CA400189696 |
903 | T>I | No |
ClinGen gnomAD |
|
|
CA8642025 rs752044386 |
905 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA400189731 rs1426092506 |
907 | G>E | No |
ClinGen gnomAD |
|
|
CA400189736 rs1272394380 |
908 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs751727597 CA8642026 |
908 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751727597 CA8642027 |
908 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753367166 CA8642028 |
909 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756876001 CA8642029 |
910 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA291525780 rs940962068 |
912 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 913 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146318392 CA8642031 |
915 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400189872 rs1598194942 |
916 | C>G | No |
ClinGen Ensembl |
|
|
rs1598194950 CA400189906 |
918 | I>L | No |
ClinGen Ensembl |
|
|
rs1598194960 CA400189970 |
922 | P>S | No |
ClinGen Ensembl |
|
|
CA8642033 rs370320531 |
923 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400190064 rs530445034 |
926 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567703793 CA400190058 |
926 | N>S | No |
ClinGen Ensembl |
|
|
CA8642035 rs139014080 |
927 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8642036 rs776593477 |
932 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8642037 rs781502548 |
932 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1294841678 CA400190375 |
937 | T>I | No |
ClinGen gnomAD |
|
|
CA400190357 rs1294841678 |
937 | T>N | No |
ClinGen gnomAD |
|
|
rs1275723652 CA400190380 |
938 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8642038 rs769825502 |
938 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8642039 rs773482641 |
939 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA8642040 rs373799614 |
940 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141893882 CA8642066 |
943 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400190735 rs1254367268 |
944 | D>N | No |
ClinGen gnomAD |
|
|
CA400190836 rs1215040371 |
946 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8642068 rs749932913 |
946 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1630255 COSM1630256 CA8642069 rs757967715 |
947 | R>* | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs369919404 CA8642070 |
947 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751275293 CA8642071 |
948 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8642072 rs754766827 |
949 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8642074 rs575023107 |
950 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1339940791 CA400190941 |
952 | G>V | No |
ClinGen TOPMed |
|
|
CA8642075 rs756034355 |
953 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400190972 rs1356304232 |
954 | A>T | No |
ClinGen gnomAD |
|
|
CA400191006 rs1398057799 |
956 | L>I | No |
ClinGen gnomAD |
|
|
rs777802337 CA8642076 |
959 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749303111 CA8642077 |
959 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8642078 rs771100368 |
962 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400191156 rs1204878390 |
963 | P>A | No |
ClinGen gnomAD |
|
|
rs774710272 CA8642079 |
963 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1034159931 CA291526532 |
964 | T>N | No |
ClinGen TOPMed |
|
|
rs772505885 CA8642081 |
966 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs201674371 CA8642083 |
967 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776021161 CA8642082 |
967 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA400191341 rs1188709625 |
968 | E>G | No |
ClinGen gnomAD |
|
|
CA400191364 rs1447627958 |
969 | N>S | No |
ClinGen gnomAD |
|
|
rs1385580934 CA400191383 |
970 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1385580934 CA400191380 |
970 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8642085 rs777247475 |
970 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA400191396 rs777247475 |
970 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA8642086 rs557197522 |
972 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA291531133 COSM189311 rs200708238 |
974 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
CA8642105 rs773879765 |
975 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs370005722 CA8642106 |
977 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8642107 rs767130624 |
978 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186573877 CA8642108 |
980 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8642110 rs548104305 |
981 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189212431 CA400194280 |
981 | E>V | No |
ClinGen gnomAD |
|
|
rs753658290 CA8642111 |
982 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757282003 CA8642112 |
983 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1159056348 CA400194344 |
985 | E>D | No |
ClinGen TOPMed |
|
|
rs1243540730 CA400194329 |
985 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8642115 rs146126922 |
987 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000949823 rs146126922 CA8642114 |
987 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1351520870 CA400194398 |
989 | E>D | No |
ClinGen gnomAD |
|
|
CA8642118 rs199819726 |
989 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400194400 rs1409984498 |
990 | I>V | No |
ClinGen gnomAD |
|
|
CA8642120 rs781633621 |
991 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773755221 CA8642124 |
995 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA400194438 rs1483270486 |
996 | L>V | No |
ClinGen gnomAD |
|
|
rs1598200694 CA400194447 |
997 | V>G | No |
ClinGen Ensembl |
|
|
rs771635263 CA8642126 |
999 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1033675412 CA400194465 |
1001 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1033675412 CA291531190 |
1001 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs895255992 CA291531191 |
1001 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1371495681 CA400194483 |
1004 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA291531198 rs61730093 |
1006 | L>Q | No |
ClinGen Ensembl |
|
|
CA400194511 rs1348204041 |
1009 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8642129 rs760388490 |
1010 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA400194519 rs61730094 |
1011 | L>F | No |
ClinGen gnomAD |
|
|
rs61730094 CA291531199 |
1011 | L>I | No |
ClinGen gnomAD |
|
|
rs61730092 CA8642130 |
1013 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1013 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776522548 CA8642131 |
1014 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs775983973 | 1016 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400194617 rs372355315 |
1016 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372355315 CA8642155 |
1016 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400194630 rs1276437993 |
1017 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA400194655 rs1343106360 |
1018 | F>L | No |
ClinGen gnomAD |
|
|
rs1223154116 CA400194681 |
1019 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1268803923 CA400194705 |
1020 | K>R | No |
ClinGen gnomAD |
|
|
rs1331323083 CA400194716 |
1021 | R>* | No |
ClinGen gnomAD |
|
|
rs375417831 CA400194722 |
1021 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8642157 rs375417831 |
1021 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866118913 CA291531467 |
1022 | A>S | No |
ClinGen Ensembl |
|
|
CA291531464 rs866118913 |
1022 | A>T | No |
ClinGen Ensembl |
|
|
rs1261641244 CA400194740 |
1023 | R>C | No |
ClinGen gnomAD |
|
|
CA8642158 rs755058557 |
1023 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA291531477 rs868285558 |
1024 | T>N | No |
ClinGen Ensembl |
|
|
rs767763467 CA400194771 |
1025 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs767763467 CA8642159 |
1025 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8642160 rs752981009 |
1025 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA400194774 rs752981009 |
1025 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs778123052 CA8642162 COSM1384158 |
1026 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749746779 CA8642163 |
1026 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400194800 rs1458344983 |
1027 | L>V | No |
ClinGen gnomAD |
|
|
rs940410853 CA291531509 |
1030 | A>V | No |
ClinGen TOPMed |
|
|
CA400194901 rs1598201205 |
1032 | R>G | No |
ClinGen Ensembl |
|
|
rs1375444571 CA400194952 |
1034 | K>T | No |
ClinGen gnomAD |
|
|
rs1384122180 CA400194968 |
1035 | A>P | No |
ClinGen gnomAD |
|
|
CA8642164 rs757812706 |
1035 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8642166 rs746506258 |
1038 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404489815 CA400195801 |
1039 | S>R | No |
ClinGen gnomAD |
|
|
rs1567707231 CA400195860 |
1040 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 1040 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768111604 CA8642167 |
1041 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400195909 rs1477961778 |
1041 | P>S | No |
ClinGen TOPMed |
|
|
rs1477961778 CA400195893 |
1041 | P>T | No |
ClinGen TOPMed |
|
|
rs1357614063 CA400195964 |
1043 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA400195941 rs1260272981 |
1043 | E>K | No |
ClinGen gnomAD |
|
|
CA8642169 rs747811071 |
1044 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400196012 rs1288087213 |
1045 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA400196021 rs1287525565 |
1046 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA291531532 rs566143997 |
1049 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs566143997 CA291531530 |
1049 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1322208416 CA400196140 |
1050 | D>G | No |
ClinGen gnomAD |
|
|
rs371838662 CA291531538 |
1050 | D>N | No |
ClinGen ESP TOPMed gnomAD |
1 associated diseases with P26006
[MIM: 614748]: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (JEB7)
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB7 is an autosomal recessive form associated with congenital nephrotic syndrome and interstitial lung disease. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease. {ECO:0000269|PubMed:22512483, ECO:0000269|PubMed:27717396}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB7 is an autosomal recessive form associated with congenital nephrotic syndrome and interstitial lung disease. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease. {ECO:0000269|PubMed:22512483, ECO:0000269|PubMed:27717396}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for P26006
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | FG-GAP repeat | 307 - 345 | IPR013517-1 |
| repeat | FG-GAP repeat | 369 - 402 | IPR013517-2 |
| repeat | Integrin alpha beta-propellor | 38 - 110 | IPR013519-1 |
| repeat | Integrin alpha beta-propellor | 246 - 360 | IPR013519-2 |
| repeat | Integrin alpha beta-propellor | 356 - 418 | IPR013519-3 |
| repeat | Integrin alpha beta-propellor | 415 - 482 | IPR013519-4 |
| domain | Integrin alpha-2 | 462 - 916 | IPR013649 |
| conserved_site | Integrin alpha chain, C-terminal cytoplasmic region, conserved site | 1014 - 1021 | IPR018184 |
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell periphery | The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| excitatory synapse | A synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| filopodium membrane | The portion of the plasma membrane surrounding a filopodium. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| growth cone filopodium | A thin, stiff protrusion extended by the leading edge of an axonal or dendritic growth cone. |
| integrin alpha3-beta1 complex | An integrin complex that comprises one alpha3 subunit and one beta1 subunit. |
| integrin complex | A protein complex that is composed of one alpha subunit and one beta subunit, both of which are members of the integrin superfamily of cell adhesion receptors; the complex spans the plasma membrane and binds to extracellular matrix ligands, cell-surface ligands, and soluble ligands. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| collagen binding | Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| fibronectin binding | Binding to a fibronectin, a group of related adhesive glycoproteins of high molecular weight found on the surface of animal cells, connective tissue matrices, and in extracellular fluids. |
| integrin binding | Binding to an integrin. |
| laminin binding | Binding to a laminin, a major glycoprotein constituent of the basement membrane of cells. |
| metal ion binding | Binding to a metal ion. |
| protease binding | Binding to a protease or a peptidase. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
29 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion mediated by integrin | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| dendritic spine maintenance | The organization process that preserves a dendritic spine in a stable functional or structural state. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission. |
| exploration behavior | The specific behavior of an organism in response to a novel environment or stimulus. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| leukocyte migration | The movement of a leukocyte within or between different tissues and organs of the body. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| maternal process involved in female pregnancy | A reproductive process occurring in the mother that allows an embryo or fetus to develop within it. |
| memory | The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
| mesodermal cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a mesoderm cell. |
| negative regulation of cell projection organization | Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. |
| negative regulation of Rho protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction. |
| nephron development | The process whose specific outcome is the progression of the nephron over time, from its formation to the mature structure. A nephron is the functional unit of the kidney. |
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
| positive regulation of cell-substrate adhesion | Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| positive regulation of epithelial cell migration | Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| 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). |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| regulation of BMP signaling pathway | Any process that modulates the frequency, rate or extent of the activity of any BMP receptor signaling pathway. |
| regulation of transforming growth factor beta receptor signaling pathway | Any process that modulates the frequency, rate or extent of activity of any TGF-beta receptor signaling pathway. |
| regulation of Wnt signaling pathway | Any process that modulates the frequency, rate or extent of the activity of the Wnt signal transduction pathway. |
| renal filtration | A renal system process in which fluid circulating through the body is filtered through a barrier system. |
| response to gonadotropin | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gonadotropin stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
| skin development | The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGPGPSRAPR | APRLMLCALA | LMVAAGGCVV | SAFNLDTRFL | VVKEAGNPGS | LFGYSVALHR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QTERQQRYLL | LAGAPRELAV | PDGYTNRTGA | VYLCPLTAHK | DDCERMNITV | KNDPGHHIIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DMWLGVTVAS | QGPAGRVLVC | AHRYTQVLWS | GSEDQRRMVG | KCYVRGNDLE | LDSSDDWQTY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HNEMCNSNTD | YLETGMCQLG | TSGGFTQNTV | YFGAPGAYNW | KGNSYMIQRK | EWDLSEYSYK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPEDQGNLYI | GYTMQVGSFI | LHPKNITIVT | GAPRHRHMGA | VFLLSQEAGG | DLRRRQVLEG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SQVGAYFGSA | IALADLNNDG | WQDLLVGAPY | YFERKEEVGG | AIYVFMNQAG | TSFPAHPSLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LHGPSGSAFG | LSVASIGDIN | QDGFQDIAVG | APFEGLGKVY | IYHSSSKGLL | RQPQQVIHGE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KLGLPGLATF | GYSLSGQMDV | DENFYPDLLV | GSLSDHIVLL | RARPVINIVH | KTLVPRPAVL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DPALCTATSC | VQVELCFAYN | QSAGNPNYRR | NITLAYTLEA | DRDRRPPRLR | FAGSESAVFH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GFFSMPEMRC | QKLELLLMDN | LRDKLRPIII | SMNYSLPLRM | PDRPRLGLRS | LDAYPILNQA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QALENHTEVQ | FQKECGPDNK | CESNLQMRAA | FVSEQQQKLS | RLQYSRDVRK | LLLSINVTNT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RTSERSGEDA | HEALLTLVVP | PALLLSSVRP | PGACQANETI | FCELGNPFKR | NQRMELLIAF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EVIGVTLHTR | DLQVQLQLST | SSHQDNLWPM | ILTLLVDYTL | QTSLSMVNHR | LQSFFGGTVM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GESGMKTVED | VGSPLKYEFQ | VGPMGEGLVG | LGTLVLGLEW | PYEVSNGKWL | LYPTEITVHG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NGSWPCRPPG | DLINPLNLTL | SDPGDRPSSP | QRRRRQLDPG | GGQGPPPVTL | AAAKKAKSET |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VLTCATGRAH | CVWLECPIPD | APVVTNVTVK | ARVWNSTFIE | DYRDFDRVRV | NGWATLFLRT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SIPTINMENK | TTWFSVDIDS | ELVEELPAEI | ELWLVLVAVG | AGLLLLGLII | LLLWKCGFFK |
| 1030 | 1040 | 1050 | |||
| RARTRALYEA | KRQKAEMKSQ | PSETERLTDD | Y |