Q6ZTQ4
PR
Gene name |
CDHR3 (CDH28) |
Protein name |
Cadherin-related family member 3 |
Names |
Cadherin-like protein 28 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:222256 |
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
4 structures for Q6ZTQ4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6PPO | EM | 320 A | U | 20-130 | PDB |
| 6PSF | EM | 350 A | U | 20-237 | PDB |
| 7KNV | NMR | - | A | 21-130 | PDB |
| AF-Q6ZTQ4-F1 | Predicted | AlphaFoldDB |
804 variants for Q6ZTQ4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs368790026 CA4427403 |
2 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746517441 CA4427404 |
4 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164080338 rs921203306 |
6 | I>V | No |
ClinGen TOPMed |
|
|
rs1375335893 CA368802180 |
8 | L>P | No |
ClinGen gnomAD |
|
|
rs151184516 CA4427406 |
9 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs151184516 CA164080346 |
9 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4427407 rs763599590 |
10 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA164080356 rs932274000 |
11 | L>V | No |
ClinGen TOPMed |
|
|
CA368802266 rs1167091305 |
13 | A>D | No |
ClinGen TOPMed |
|
|
CA368802272 rs1476767675 |
14 | M>L | No |
ClinGen TOPMed |
|
|
CA368795866 rs1203932090 |
16 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA368795877 rs1477102860 |
17 | G>E | No |
ClinGen TOPMed |
|
|
rs746747152 CA4427423 |
17 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA4427424 rs768185199 |
19 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA368795900 rs1486838651 |
19 | A>V | No |
ClinGen gnomAD |
|
|
rs1368398286 CA368795914 |
21 | H>Y | No |
ClinGen gnomAD |
|
|
CA4427427 rs747092155 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1445859065 CA368795978 |
26 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1445859065 CA368795976 |
26 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368795971 rs1563230907 |
26 | P>T | No |
ClinGen Ensembl |
|
|
rs1250075421 CA368795985 |
27 | A>P | No |
ClinGen TOPMed |
|
|
CA4427430 rs774939199 |
28 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427431 rs201563171 |
28 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1274627697 CA368796004 |
29 | G>D | No |
ClinGen TOPMed |
|
|
CA368796027 rs1198341978 |
31 | V>A | No |
ClinGen TOPMed |
|
|
rs775703748 CA4427433 |
32 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs772553458 CA4427432 |
32 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA4427434 rs761007571 |
33 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
COSM1200521 COSM1200520 rs764191938 CA4427435 |
35 | S>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs199543265 CA4427436 |
36 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227260770 CA368796089 |
37 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4427437 rs761834882 |
37 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1272011473 CA368796110 |
38 | G>E | No |
ClinGen gnomAD |
|
|
CA164052367 rs751307872 |
41 | V>M | No |
ClinGen Ensembl |
|
|
CA4427439 rs750296785 |
42 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368796184 rs750296785 |
42 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758330387 CA4427440 |
43 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1247899 rs766258897 CA4427441 COSM1247898 |
43 | K>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1412965388 CA368796247 |
46 | V>A | No |
ClinGen TOPMed |
|
|
rs958321700 CA164052422 |
49 | S>* | No |
ClinGen TOPMed |
|
|
CA368796309 rs1434099164 |
50 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368796324 rs1481715013 |
51 | S>L | No |
ClinGen TOPMed |
|
|
rs1585515403 CA368796348 |
53 | S>L | No |
ClinGen Ensembl |
|
|
CA368796342 rs1181949109 |
53 | S>P | No |
ClinGen TOPMed |
|
|
CA4427445 VAR_035228 rs35008315 |
55 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767662046 CA164052436 |
58 | G>R | No |
ClinGen Ensembl |
|
|
CA164052440 rs868655825 |
60 | P>S | No |
ClinGen Ensembl |
|
|
rs1234940412 CA368796421 |
61 | Q>* | No |
ClinGen TOPMed |
|
|
CA4427446 rs34426483 VAR_035229 |
61 | Q>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376131291 CA4427449 |
62 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4427448 rs755616694 |
62 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427447 rs373923308 |
62 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746434216 CA4427450 |
65 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs772436247 CA4427451 |
66 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1585515685 CA368796483 |
66 | N>S | No |
ClinGen Ensembl |
|
|
CA4427452 rs370855498 |
67 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354390961 CA368796492 |
67 | P>S | No |
ClinGen gnomAD |
|
|
CA368796517 rs1294684724 |
69 | T>N | No |
ClinGen gnomAD |
|
|
CA164052473 rs924742785 |
70 | E>A | No |
ClinGen TOPMed |
|
|
CA4427453 rs747286133 |
70 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944225782 CA164052477 |
71 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368796558 rs1255804010 |
73 | R>K | No |
ClinGen gnomAD |
|
|
CA368796575 rs1375327651 |
74 | V>A | No |
ClinGen TOPMed |
|
|
CA368796573 rs1375327651 |
74 | V>E | No |
ClinGen TOPMed |
|
|
CA164052481 rs773051711 |
75 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs370097298 CA368796618 |
78 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370097298 CA4427457 |
78 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368796629 rs1470975162 |
79 | G>D | No |
ClinGen TOPMed |
|
|
rs768841696 CA4427472 |
84 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1431293962 CA368797140 |
85 | V>I | No |
ClinGen gnomAD |
|
|
CA164055749 rs941552615 |
88 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1412376523 CA368797166 |
88 | G>R | No |
ClinGen gnomAD |
|
|
CA4427473 rs776963823 |
90 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1396101057 CA368797220 |
94 | F>V | No |
ClinGen gnomAD |
|
|
rs1408812757 CA368797232 |
95 | E>Q | No |
ClinGen TOPMed |
|
|
CA368797253 rs1457961124 |
96 | T>I | No |
ClinGen gnomAD |
|
|
CA4427474 rs748432217 |
99 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA368797280 rs1370748346 |
99 | N>S | No |
ClinGen TOPMed |
|
|
rs748432217 CA4427475 |
99 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200892741 CA4427476 |
100 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4427477 rs762905242 |
101 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1041484811 CA368797340 |
104 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA164055773 rs1041484811 |
104 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1350207370 CA368797352 |
105 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766346984 CA4427478 |
108 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4427480 rs774101487 |
109 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865815730 CA164055779 |
109 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774101487 CA4427479 |
109 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164055795 rs899898321 |
110 | E>K | No |
ClinGen TOPMed |
|
|
CA4427483 rs760452565 |
112 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4427482 rs752509579 |
112 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206089043 CA368797444 |
113 | V>I | No |
ClinGen gnomAD |
|
|
CA164055819 rs887628624 |
114 | T>R | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368797487 rs1415870480 |
117 | Q>K | No |
ClinGen gnomAD |
|
|
rs368251641 CA4427487 |
118 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427489 rs755502144 |
120 | T>P | No |
ClinGen ExAC |
|
|
rs781573824 CA4427490 |
120 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1201514408 CA368797533 |
121 | V>L | No |
ClinGen TOPMed |
|
|
rs35558761 CA164055864 |
123 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs35558761 CA164055859 |
123 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA164055867 rs759476853 |
125 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164055865 rs1002538949 |
125 | D>H | No |
ClinGen TOPMed |
|
|
CA4427493 rs759476853 |
125 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427496 COSM461710 COSM461711 rs545341223 |
128 | E>K | lung cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4427497 rs545341223 |
128 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759432893 CA4427498 |
130 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368797655 rs1309301777 |
133 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368797674 rs1229476832 |
134 | G>S | No |
ClinGen gnomAD |
|
|
CA4427500 rs772113039 CA368797687 |
135 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368797694 rs760505550 |
136 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA368797689 rs1341285393 |
136 | L>V | No |
ClinGen gnomAD |
|
|
rs1238932119 CA368797695 |
137 | A>T | No |
ClinGen gnomAD |
|
|
CA164055912 rs757484314 |
138 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 139 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368797727 rs1160950724 |
140 | L>I | No |
ClinGen TOPMed |
|
|
rs1160950724 CA368797728 |
140 | L>V | No |
ClinGen TOPMed |
|
|
rs1385041815 CA368797737 |
141 | H>L | No |
ClinGen TOPMed |
|
|
CA4427517 rs745913152 |
141 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA4427519 rs760558658 |
142 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA4427518 rs775501689 |
142 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA368797741 rs760558658 |
142 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs373416099 CA4427520 |
143 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391480396 CA368797751 |
144 | I>V | No |
ClinGen gnomAD |
|
|
CA164058112 CA4427522 rs761409026 |
146 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA164058091 rs1032501325 |
146 | E>G | No |
ClinGen TOPMed |
|
|
CA368797768 rs753960471 |
147 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs772615727 CA4427524 |
147 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA4427525 rs755031818 |
148 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427526 rs768028690 |
149 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368797782 rs1585580172 |
149 | N>T | No |
ClinGen Ensembl |
|
|
rs1292243482 CA368797789 |
150 | P>L | No |
ClinGen TOPMed |
|
|
CA4427528 rs756611741 |
152 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs904362388 CA164058140 |
153 | I>V | No |
ClinGen Ensembl |
|
|
CA368797817 rs1209235965 |
154 | Y>* | No |
ClinGen gnomAD |
|
|
rs764408508 CA4427529 |
154 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA368797814 rs764408508 |
154 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA4427531 rs757443459 COSM402919 COSM402920 |
155 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754209015 CA4427530 |
155 | Q>P | No |
ClinGen ExAC |
|
|
CA4427532 rs374784309 |
158 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745946514 CA4427533 |
160 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368797865 rs910609416 |
162 | E>* | No |
ClinGen TOPMed |
|
|
CA164058175 rs910609416 |
162 | E>K | No |
ClinGen TOPMed |
|
|
CA368797871 rs1252404040 |
163 | D>N | No |
ClinGen gnomAD |
|
|
CA4427534 rs758492718 |
165 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427535 rs758492718 |
165 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414588323 CA368797891 |
165 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs747006629 CA4427536 |
166 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427537 COSM1447063 rs144538079 COSM1447062 |
166 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368797919 rs1407138413 |
168 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA368797918 rs1407138413 |
168 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4427539 rs747924083 |
169 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368797929 rs747924083 |
169 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773875637 CA368798988 |
172 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs959973205 CA164066299 |
172 | Y>C | No |
ClinGen TOPMed |
|
|
rs1013945866 CA164066317 |
176 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1013945866 CA368799035 |
176 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs769047758 CA4427566 |
177 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368799056 rs1471844779 |
178 | P>R | No |
ClinGen gnomAD |
|
|
rs369468577 CA4427568 |
179 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376253605 CA4427571 |
183 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA368799128 rs1394021296 |
183 | M>K | No |
ClinGen gnomAD |
|
|
rs1474292011 CA368799159 |
185 | A>V | No |
ClinGen TOPMed |
|
|
CA164066358 rs938955953 |
186 | N>T | No |
ClinGen Ensembl |
|
|
rs562770860 CA164066385 |
187 | G>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA164066379 rs528729768 |
187 | G>S | No |
ClinGen gnomAD |
|
|
rs1365488844 CA368799195 |
188 | T>I | No |
ClinGen gnomAD |
|
|
rs1563258858 CA368799200 |
189 | L>F | No |
ClinGen Ensembl |
|
|
rs1256875332 CA368799263 |
192 | T>I | No |
ClinGen TOPMed |
|
|
CA368799285 rs1250006244 |
193 | T>I | No |
ClinGen gnomAD |
|
|
CA164066402 rs926115454 |
194 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4427574 rs755031241 |
196 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM223196 CA164066422 rs956224499 |
196 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1460321156 CA368799354 |
197 | F>V | No |
ClinGen gnomAD |
|
|
CA368799411 rs1563258951 |
198 | E>D | No |
ClinGen Ensembl |
|
|
rs989463615 CA164066427 |
200 | G>A | No |
ClinGen TOPMed |
|
|
rs201430498 CA4427575 |
201 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427595 rs566350612 |
204 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368799570 rs1386945395 |
205 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368799581 rs1323350715 |
207 | I>V | No |
ClinGen gnomAD |
|
|
CA368799591 rs1289506087 |
208 | V>G | No |
ClinGen gnomAD |
|
|
COSM452114 rs200019471 CA4427597 COSM452115 |
208 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA164067819 rs887326153 |
210 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368799600 rs771109526 |
210 | V>L | No |
ClinGen gnomAD |
|
|
rs771109526 CA164067810 |
210 | V>M | No |
ClinGen gnomAD |
|
|
CA368799623 rs745598665 |
213 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427600 rs745598665 |
213 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463691972 CA368799634 |
215 | G>D | No |
ClinGen gnomAD |
|
|
CA4427601 rs757955102 |
215 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA164067846 rs1046679744 |
216 | L>P | No |
ClinGen TOPMed |
|
|
rs1344285049 CA368799657 |
219 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 219 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156345326 CA368799663 |
220 | T>A | No |
ClinGen gnomAD |
|
|
rs749802725 CA4427606 |
223 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1370025102 CA368799689 |
224 | V>M | No |
ClinGen gnomAD |
|
|
CA4427607 rs771493524 |
225 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574450144 CA164067934 |
225 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368799702 rs1563261371 |
226 | I>V | No |
ClinGen Ensembl |
|
|
rs375566112 CA4427609 |
227 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427611 rs775672486 |
230 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4427614 rs368294260 |
230 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760682075 CA4427612 |
230 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs535238500 CA4427615 |
231 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371586125 CA4427618 |
232 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368799784 rs1257723984 |
232 | E>D | No |
ClinGen gnomAD |
|
|
rs779530979 CA4427619 |
232 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4427617 COSM598250 rs371586125 COSM598251 |
232 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368799778 rs371586125 |
232 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4427620 rs746528834 |
234 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201595088 CA4427622 |
235 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA164068021 rs201595088 |
235 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200623269 CA4427623 COSM3745451 COSM3745452 |
235 | R>H | Variant assessed as Somatic; 4.832e-05 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4427621 rs201595088 |
235 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4427645 rs191593080 |
239 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368800974 rs191593080 |
239 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368800980 rs1312721755 |
240 | T>I | No |
ClinGen gnomAD |
|
|
CA4427648 rs768844354 |
241 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368800981 rs768844354 |
241 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776713785 CA4427649 |
241 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA164072753 COSM172312 rs776713785 |
241 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772962656 CA4427652 |
242 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1209029367 CA368800983 |
242 | V>M | No |
ClinGen gnomAD |
|
|
CA4427653 rs762931277 |
243 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1174940090 CA368801001 |
245 | V>I | No |
ClinGen TOPMed |
|
|
rs759288780 CA4427656 |
250 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751379300 CA4427655 |
250 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457835952 CA368801043 |
251 | P>L | No |
ClinGen gnomAD |
|
|
CA4427657 rs767241645 |
251 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024206015 CA368801054 |
253 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA164072814 rs1024206015 |
253 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4427659 rs755521299 |
254 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA368801065 rs1209742170 |
255 | V>G | No |
ClinGen TOPMed |
|
|
CA4427661 rs750959668 |
255 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427662 rs758905637 |
256 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369801310 CA4427663 |
257 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368801094 rs372834692 |
260 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427664 rs372834692 |
260 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370131785 CA4427666 |
262 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282882461 CA368801105 |
262 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1282882461 CA368801104 |
262 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 264 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374727164 CA164072890 |
264 | D>Y | No |
ClinGen ESP |
|
|
CA368801128 rs1223275772 |
265 | D>G | No |
ClinGen gnomAD |
|
|
CA164072900 rs1032030163 |
266 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302598718 CA368801168 |
271 | H>Y | No |
ClinGen TOPMed |
|
|
CA368801177 rs1197975871 |
272 | L>F | No |
ClinGen gnomAD |
|
|
CA4427669 rs376166110 |
274 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473169521 CA368801190 |
274 | Y>C | No |
ClinGen gnomAD |
|
|
CA4427668 rs201930823 |
274 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368801202 rs1407332319 |
276 | I>V | No |
ClinGen gnomAD |
|
|
CA4427670 rs762849999 |
278 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427671 rs770857376 |
280 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368801257 rs1161231070 |
284 | M>L | No |
ClinGen TOPMed |
|
|
CA368801278 rs1421965768 |
286 | N>K | No |
ClinGen TOPMed |
|
|
CA368801282 rs1300990007 |
287 | Q>* | No |
ClinGen gnomAD |
|
|
CA368801286 rs1352280811 |
287 | Q>H | No |
ClinGen gnomAD |
|
|
CA4427688 rs749352680 |
291 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA368801900 rs1243268072 |
291 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1243268072 CA368801898 |
291 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1300310019 CA368801927 |
293 | Q>* | No |
ClinGen gnomAD |
|
|
CA164079798 rs539486286 |
295 | A>V | No |
ClinGen TOPMed |
|
|
rs199865552 CA4427689 |
296 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368801960 rs199865552 |
296 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4427691 rs774373233 |
297 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs372103261 CA164079810 |
298 | I>T | No |
ClinGen ESP |
|
|
rs369577657 CA4427692 |
299 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772061729 CA4427693 |
300 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427694 rs775395604 |
300 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923289068 CA164079842 COSM3698082 COSM3698081 |
302 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4427696 rs763751840 |
302 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1247267515 CA368802064 |
303 | G>V | No |
ClinGen TOPMed |
|
|
rs1167041846 COSM3736871 CA368802112 COSM3736870 |
305 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA368802149 rs1158929146 |
307 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368802147 rs1158929146 |
307 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368802181 rs1226790670 |
308 | N>K | No |
ClinGen TOPMed |
|
|
CA4427697 rs776034966 |
308 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1355790422 CA368802188 |
309 | P>S | No |
ClinGen TOPMed |
|
|
CA368802201 rs1336850615 |
310 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA164079868 rs865944672 |
312 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 314 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368802263 rs1450069673 |
314 | E>Q | No |
ClinGen gnomAD |
|
|
CA368802291 rs1436323107 |
315 | V>D | No |
ClinGen TOPMed |
|
|
CA368802321 rs766881171 |
317 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs766881171 CA4427699 |
317 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs752116349 CA4427700 |
319 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933284101 CA164079882 |
321 | P>L | No |
ClinGen Ensembl |
|
|
CA4427701 rs755470458 |
322 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA368802391 rs551198279 |
322 | Y>H | No |
ClinGen gnomAD |
|
|
CA164079890 rs551198279 |
322 | Y>N | No |
ClinGen gnomAD |
|
|
CA164079899 rs1047724093 |
323 | G>A | No |
ClinGen TOPMed |
|
|
rs753059990 CA4427703 |
325 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs757823336 CA164079924 |
326 | E>D | No |
ClinGen Ensembl |
|
|
CA4427704 rs756326826 |
327 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375211862 CA4427705 |
327 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368802478 rs749341687 |
328 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427707 rs373691451 |
328 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA164079929 rs796889598 |
328 | R>I | No |
ClinGen Ensembl |
|
|
CA4427708 rs373691451 |
328 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4427706 rs749341687 |
328 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772111009 CA4427710 |
330 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA368802538 rs1250883673 |
332 | T>I | No |
ClinGen TOPMed |
|
|
CA368802530 rs1585714657 |
332 | T>P | No |
ClinGen Ensembl |
|
|
CA164079948 rs528827147 |
333 | F>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA368802562 rs1177045995 |
334 | I>F | No |
ClinGen gnomAD |
|
|
rs939625958 CA164079949 |
334 | I>T | No |
ClinGen TOPMed |
|
|
CA4427711 rs775446418 |
335 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368802577 rs1428064305 |
335 | V>L | No |
ClinGen gnomAD |
|
|
rs1160653941 CA368802589 |
336 | E>A | No |
ClinGen gnomAD |
|
|
rs746778132 CA4427712 |
336 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160653941 CA368802591 |
336 | E>G | No |
ClinGen gnomAD |
|
|
CA4427714 rs377338181 |
338 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427716 rs761353969 |
339 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427717 rs772674629 |
340 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA368802734 rs895297056 |
345 | C>* | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4427719 rs767975111 |
346 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA368802749 rs1436124426 |
347 | K>E | No |
ClinGen TOPMed |
|
|
rs201055622 CA4427720 |
347 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1043917975 CA164079994 |
348 | F>L | No |
ClinGen TOPMed |
|
|
rs754156071 CA4427723 |
351 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA164080003 rs754156071 |
351 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368803976 rs1386720116 |
352 | I>V | No |
ClinGen gnomAD |
|
|
CA4427738 rs761083760 |
353 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA164086099 rs1008964030 |
353 | M>V | No |
ClinGen Ensembl |
|
|
rs764561322 CA4427739 |
354 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4427740 rs202204966 |
355 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202204966 CA368803998 |
355 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762147165 CA4427741 |
357 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA164086127 rs765514072 |
358 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4427742 rs765514072 |
358 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4427745 rs200699431 |
359 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4427744 rs750534441 |
359 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs377545063 CA4427747 |
362 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368804045 CA4427749 rs781087520 |
363 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427751 rs769443560 |
367 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA368804073 rs1292428965 |
368 | N>I | No |
ClinGen TOPMed |
|
|
CA164086151 rs951824288 |
369 | K>N | No |
ClinGen Ensembl |
|
|
CA4427752 rs777351305 |
370 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427753 rs748930662 |
371 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA368804155 rs1351234148 |
374 | D>N | No |
ClinGen TOPMed |
|
|
CA368804221 rs1167928107 |
378 | A>T | No |
ClinGen TOPMed |
|
|
CA368804231 rs1461518004 COSM1447070 COSM1447071 |
378 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4427754 rs200102793 |
379 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs188353985 CA4427755 |
380 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4427756 rs746041030 |
383 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182150723 CA368804311 |
384 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563285531 CA368804361 |
387 | M>I | No |
ClinGen Ensembl |
|
|
rs1460874922 CA368804348 |
387 | M>K | No |
ClinGen gnomAD |
|
|
rs768996901 CA4427758 |
387 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777083667 CA4427759 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs199651690 CA4427760 |
390 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1033570467 CA164086174 |
394 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4427763 rs563246667 |
394 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 396 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368804494 rs1225109526 |
397 | F>V | No |
ClinGen gnomAD |
|
|
CA368804498 rs1341128087 |
397 | F>Y | No |
ClinGen TOPMed |
|
|
rs1585763675 CA368804525 |
399 | Q>E | No |
ClinGen Ensembl |
|
|
rs947961911 CA164086181 |
399 | Q>R | No |
ClinGen TOPMed |
|
|
CA368804550 rs1461371338 |
400 | D>E | No |
ClinGen gnomAD |
|
|
CA4427765 rs751568076 |
401 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs545577615 CA4427766 |
402 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368804574 rs1486612271 |
402 | A>V | No |
ClinGen gnomAD |
|
|
rs752506656 CA4427768 |
407 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1417641494 CA368805028 |
409 | L>R | No |
ClinGen gnomAD |
|
|
rs752702937 CA368805025 |
409 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4427786 rs756014867 |
411 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1272613803 CA368805046 |
412 | D>V | No |
ClinGen gnomAD |
|
|
CA368805052 rs1305858977 |
413 | L>P | No |
ClinGen gnomAD |
|
|
rs1224050979 CA368805050 |
413 | L>V | No |
ClinGen gnomAD |
|
|
rs1225213226 CA368805061 |
414 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs372371724 CA4427791 |
416 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4427790 rs372371724 |
416 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427789 rs372371724 |
416 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427792 rs376316115 |
416 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368805087 rs1223750239 |
418 | P>L | No |
ClinGen TOPMed |
|
|
rs1234728910 CA368805089 |
419 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779706350 CA4427793 |
420 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779706350 CA368805099 |
420 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1585776899 CA368805098 |
420 | N>Y | No |
ClinGen Ensembl |
|
|
CA368805104 rs1176629899 |
421 | L>V | No |
ClinGen gnomAD |
|
|
CA4427794 rs748700977 |
422 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs373722891 CA4427798 |
424 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373722891 CA4427797 |
424 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427800 rs759803962 |
425 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356138249 CA368805134 |
426 | K>R | No |
ClinGen gnomAD |
|
|
COSM1083747 COSM1083746 CA4427801 rs141860028 |
428 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1374234941 CA368805151 |
429 | V>M | No |
ClinGen gnomAD |
|
|
rs1247673422 CA368805162 |
430 | I>T | No |
ClinGen gnomAD |
|
|
CA4427804 rs763981246 |
432 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA368805174 rs1250252525 |
432 | Q>R | No |
ClinGen gnomAD |
|
|
CA4427805 rs753632217 |
433 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA368805193 COSM1729801 rs1175877217 COSM1729800 |
435 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA368805209 rs765067088 |
437 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765067088 CA4427809 |
437 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427811 rs750110090 |
438 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4427812 rs779755552 |
438 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427810 rs750110090 |
438 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA164087517 rs1055861839 |
439 | P>A | No |
ClinGen gnomAD |
|
|
rs1459534663 CA368805216 |
439 | P>L | No |
ClinGen TOPMed |
|
|
CA368805214 rs1055861839 |
439 | P>S | No |
ClinGen gnomAD |
|
|
rs1203813569 CA368805230 |
441 | Y>C | No |
ClinGen TOPMed |
|
|
rs1161183403 CA368805228 |
441 | Y>H | No |
ClinGen gnomAD |
|
|
rs778369911 CA4427816 |
442 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427846 rs762768101 |
443 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186725939 COSM3745458 CA4427848 COSM3745459 |
445 | V>I | liver Variant assessed as Somatic; 4.683e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs193279079 CA368805672 |
447 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs193279079 CA4427850 COSM3784793 COSM3784792 |
447 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4427851 rs373431816 |
449 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433580627 CA368805712 |
450 | L>V | No |
ClinGen TOPMed |
|
|
rs757740235 CA4427852 |
452 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4427853 rs765711658 |
452 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA164088023 rs267601220 |
456 | E>K | No |
ClinGen Ensembl |
|
|
rs1266127628 CA368805862 |
459 | L>V | No |
ClinGen gnomAD |
|
|
CA164088028 rs981867776 |
462 | D>G | No |
ClinGen Ensembl |
|
|
rs1183267110 CA368805957 |
463 | R>G | No |
ClinGen gnomAD |
|
|
CA4427855 rs758818093 |
464 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1480308449 CA368806009 |
465 | S>F | No |
ClinGen TOPMed |
|
|
rs377271569 CA4427857 |
466 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 466 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377271569 CA4427858 |
466 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202044314 CA164088059 |
468 | F>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs748218804 CA4427860 |
469 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370853389 CA4427862 |
470 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368806104 rs1306873958 |
471 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749234918 CA4427863 |
473 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA368806131 rs1246707564 |
474 | R>K | No |
ClinGen gnomAD |
|
|
rs143495908 CA368806155 |
476 | A>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA4427867 rs143495908 |
476 | A>T | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs549791594 CA4427887 |
477 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368806482 COSM1447076 rs1407144190 COSM1447077 |
478 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs375997941 CA164089173 |
478 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4427888 rs563137220 |
479 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA368806486 rs563137220 |
479 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368806491 rs1302095045 |
479 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1302095045 CA368806488 |
479 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA368806509 rs1376682464 |
481 | G>E | No |
ClinGen gnomAD |
|
|
rs368274712 CA4427891 |
484 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368274712 CA4427890 |
484 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427892 rs182455935 |
484 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368806535 rs1216276757 |
485 | A>T | No |
ClinGen gnomAD |
|
|
rs1264415819 CA368806542 |
485 | A>V | No |
ClinGen gnomAD |
|
|
rs1323868315 CA368806552 |
486 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208964531 CA368806579 |
489 | D>N | No |
ClinGen gnomAD |
|
|
rs1585797422 CA368806597 |
491 | P>L | No |
ClinGen Ensembl |
|
|
CA368806595 rs1487053892 |
491 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA368806599 rs1249452543 |
492 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368806604 rs1187404981 |
492 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368806603 rs1187404981 |
492 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1477100823 CA368806609 |
493 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368806630 rs1201725753 |
496 | L>V | No |
ClinGen gnomAD |
|
|
CA368806640 rs1432878159 |
497 | Y>* | No |
ClinGen gnomAD |
|
|
rs751925681 CA4427894 |
500 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1187589211 CA368806661 |
501 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4427895 rs759885731 |
502 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4427896 rs767757764 |
503 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA368806672 rs767757764 |
503 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1398033219 CA368806678 |
504 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4427897 rs76067797 |
506 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756269580 CA4427898 |
507 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1218352158 CA368806697 |
507 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368806706 rs1298748217 |
508 | Y>C | No |
ClinGen gnomAD |
|
|
CA368806710 rs1216986712 |
509 | P>T | No |
ClinGen gnomAD |
|
|
CA4427900 rs753933141 |
513 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA4427899 rs565900045 |
513 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA164089231 rs905438957 |
514 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1254405942 CA368806765 |
516 | P>H | No |
ClinGen TOPMed |
|
|
CA368806784 rs1269774023 |
517 | K>M | No |
ClinGen gnomAD |
|
|
CA368806804 rs1176381177 |
519 | G>* | No |
ClinGen TOPMed |
|
| TCGA novel | 520 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368806837 rs1457080241 |
521 | L>F | No |
ClinGen TOPMed |
|
|
CA4427903 rs376803363 |
522 | Q>R | No |
ClinGen ESP ExAC |
|
| TCGA novel | 523 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771967113 CA4427904 |
525 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427905 rs779678905 |
527 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs534783094 CA4427906 |
528 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_035230 CA4427907 rs6967330 |
529 | C>Y | increases cell surface expression [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1031048717 CA164089290 |
530 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1348686665 CA368806961 |
530 | E>V | No |
ClinGen TOPMed |
|
|
rs73195662 CA4427909 |
532 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368806983 rs73195662 |
532 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4427908 rs73195662 |
532 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771440664 CA4427910 |
534 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427912 rs759931588 |
535 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427911 rs774894721 |
535 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 538 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375707208 CA4427913 |
541 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368807096 rs1434633443 |
541 | A>T | No |
ClinGen gnomAD |
|
|
rs375707208 CA4427914 |
541 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA164089349 rs753984467 |
544 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368807142 rs1309061941 |
544 | N>S | No |
ClinGen gnomAD |
|
|
rs757473628 CA4427918 |
545 | E>K | Variant assessed as Somatic; 4.669e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779132895 CA4427919 |
548 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451484633 CA368807227 |
550 | V>A | No |
ClinGen gnomAD |
|
|
CA4427939 rs765455329 |
552 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1465701136 CA368807456 |
554 | V>A | No |
ClinGen gnomAD |
|
|
CA368807474 rs1169281537 |
557 | L>F | No |
ClinGen gnomAD |
|
|
rs750416886 CA4427940 |
559 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005515176 CA368807500 |
560 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758389243 CA4427941 |
562 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766161847 CA4427942 |
564 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA368807557 rs1452338411 |
569 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4427945 rs780959455 |
569 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1256194379 CA368807567 |
570 | S>C | No |
ClinGen gnomAD |
|
|
rs1325976116 CA368807573 |
571 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747848959 CA4427946 |
572 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755716083 CA4427947 |
576 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376249428 CA4427948 |
577 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427949 rs748680068 |
578 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4427951 rs569411703 |
579 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747517177 CA4427952 |
580 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1247901 rs538520563 COSM1247900 CA4427954 |
582 | G>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs374018960 CA164091101 |
583 | T>A | No |
ClinGen ESP |
|
|
CA4427955 rs762145423 |
583 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751069300 CA4427956 |
586 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368807668 rs1413135381 |
587 | N>H | No |
ClinGen gnomAD |
|
|
CA4427957 rs773342080 |
588 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762882697 CA4427958 |
589 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA368807700 rs1276443094 |
592 | C>R | No |
ClinGen gnomAD |
|
|
CA368807702 rs1347456559 |
592 | C>Y | No |
ClinGen gnomAD |
|
|
CA164091148 rs990235231 |
593 | T>S | No |
ClinGen TOPMed |
|
|
CA4427965 rs752451541 |
594 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs754877338 CA4427963 |
594 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4427962 rs754877338 |
594 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA164091169 rs1041127623 |
595 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA368807719 rs1563298470 |
595 | L>P | No |
ClinGen Ensembl |
|
|
CA4427967 rs753520001 |
596 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778459268 CA4427969 |
599 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4427968 rs756786579 |
599 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4427970 rs747564628 |
600 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA368807752 rs1371321087 |
600 | R>S | No |
ClinGen TOPMed |
|
|
rs1170687169 CA368807763 |
602 | F>S | No |
ClinGen TOPMed |
|
|
rs144905888 CA4427971 RCV000971370 |
603 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs375457922 CA4427972 |
603 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160699179 CA368807776 |
604 | Y>F | No |
ClinGen gnomAD |
|
|
CA164091185 rs368624324 |
605 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4427973 rs368624324 |
605 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368807780 rs1419687428 |
605 | S>Y | No |
ClinGen gnomAD |
|
|
CA164091203 rs571853463 |
606 | I>T | No |
ClinGen 1000Genomes |
|
|
rs770068232 CA4427974 |
607 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs773363986 CA4427976 |
608 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4427975 rs773363986 |
608 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 609 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368808223 rs1165062901 |
610 | N>D | No |
ClinGen TOPMed |
|
|
rs1012896946 CA164092261 |
611 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368808254 rs771145662 |
612 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563300807 CA368808250 |
612 | N>S | No |
ClinGen Ensembl |
|
|
CA368808270 rs1245404450 |
613 | N>K | No |
ClinGen gnomAD |
|
|
CA4427995 rs774421064 |
616 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs759554255 CA4427996 |
620 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM598248 COSM598249 rs772129631 CA4427997 |
622 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA164092282 rs368285250 |
623 | S>F | No |
ClinGen ESP |
|
|
rs1457007631 CA368808397 |
624 | N>T | No |
ClinGen gnomAD |
|
|
CA4427999 rs150185922 |
625 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200639930 COSM1083756 COSM1083757 CA4428000 |
627 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200639930 CA4428001 |
627 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369144010 CA4428002 |
627 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369144010 CA4428003 |
627 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749963871 CA4428004 |
630 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs532610695 CA164092339 |
632 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368808484 rs532610695 |
632 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4428005 rs553579131 |
633 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1447080 rs765982493 CA4428006 COSM1447081 |
633 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765982493 CA368808495 |
633 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381058882 CA368808529 |
636 | Y>H | No |
ClinGen gnomAD |
|
|
rs753294449 CA4428007 |
638 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756620854 CA4428008 |
639 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368808588 rs746415660 |
641 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4428009 rs746415660 |
641 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757433543 CA4428011 |
643 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258206556 CA368808675 |
647 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1178354006 CA368808681 |
648 | L>Q | No |
ClinGen Ensembl |
|
|
rs201258435 CA4428012 |
650 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201258435 CA368808693 |
650 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368808712 rs1254715739 |
651 | Y>C | No |
ClinGen gnomAD |
|
|
rs772184680 CA4428014 |
652 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368808721 rs772184680 |
652 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368808737 rs1201687322 |
653 | T>I | No |
ClinGen TOPMed |
|
|
CA368808769 rs1477000146 |
656 | N>D | No |
ClinGen gnomAD |
|
|
CA4428016 rs35851873 |
658 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368808792 rs1466378149 |
658 | M>K | No |
ClinGen gnomAD |
|
|
CA4428017 rs573764282 |
661 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1339267949 CA368808864 |
664 | A>T | No |
ClinGen gnomAD |
|
|
CA4428018 rs200750995 |
664 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1585825541 CA368808875 |
665 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 666 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765106799 CA4428021 |
667 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4428020 rs765106799 |
667 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs762663808 CA4428022 |
667 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs751030566 CA4428024 |
668 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556574308 CA4428023 |
668 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 676 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754289115 CA4428028 |
678 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1585825929 CA368809066 |
682 | H>P | No |
ClinGen Ensembl |
|
|
rs776084252 CA4428030 |
682 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368809083 rs746142690 |
683 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746142690 CA4428031 |
683 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4428032 rs200065621 |
684 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368809091 rs200065621 |
684 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780136347 CA4428033 |
685 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368809107 rs1428064717 |
686 | I>V | No |
ClinGen gnomAD |
|
|
CA4428034 rs747040071 |
688 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768489671 CA4428035 |
689 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368809145 rs1367917358 |
689 | T>S | No |
ClinGen gnomAD |
|
|
CA4428036 rs376131511 |
690 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748029984 CA4428037 |
691 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368809186 CA368809188 rs545425336 |
692 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4428040 rs773119462 |
692 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 693 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777741458 CA4428058 |
693 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368809503 rs1324128514 |
695 | V>I | No |
ClinGen TOPMed |
|
|
CA4428060 rs770837188 |
697 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs774121677 CA4428061 |
698 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759080929 CA4428062 |
699 | V>I | No |
ClinGen ExAC |
|
|
CA164093657 rs760179565 |
700 | L>Q | No |
ClinGen Ensembl |
|
|
rs1422745000 CA368809561 |
702 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 702 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 703 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4428064 rs200546105 |
704 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 705 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368809612 rs1402065662 |
705 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs376151253 CA4428066 |
708 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4428068 rs368256729 |
709 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368809661 rs368256729 |
709 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4428069 rs766644909 |
709 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019025057 CA164093691 |
710 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA368809695 rs1265565526 |
711 | Y>C | No |
ClinGen TOPMed |
|
|
CA4428071 rs116446744 |
712 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4428072 rs781354741 |
713 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1563304580 CA368809720 |
713 | P>S | No |
ClinGen Ensembl |
|
|
rs756134104 CA4428074 |
714 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777915359 CA4428075 |
715 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1250749104 CA368809792 |
717 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 719 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4428077 rs749234987 |
721 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368809877 rs1269181887 |
721 | I>T | No |
ClinGen gnomAD |
|
|
CA368809902 rs1563304697 |
722 | L>F | No |
ClinGen Ensembl |
|
|
CA368809887 rs1452032476 |
722 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs745559683 CA4428079 |
725 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs745559683 CA4428080 |
725 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4428081 rs775073320 |
726 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746455447 CA4428082 |
726 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 727 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763415839 CA4428085 |
728 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs773773459 CA4428084 |
728 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368810013 rs773773459 |
728 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413451949 CA368810040 |
729 | Y>C | No |
ClinGen gnomAD |
|
|
rs201969268 CA4428086 |
729 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4428087 rs774528097 |
730 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372150083 CA4428090 |
731 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372150083 CA4428089 |
731 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000959675 CA4428092 rs11505886 |
732 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757097056 CA4428094 |
737 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4428093 rs753877663 |
737 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174492229 CA368810236 |
738 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 740 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368810290 rs1265156555 |
741 | H>R | No |
ClinGen gnomAD |
|
|
rs1480233768 CA368810287 |
741 | H>Y | No |
ClinGen TOPMed |
|
|
CA164093825 rs926905608 |
743 | P>L | No |
ClinGen TOPMed |
|
|
rs745585981 CA4428097 |
743 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA164093829 rs771726662 |
744 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4428098 rs758080132 |
747 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs758080132 CA4428099 |
747 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 748 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295872616 CA368810476 |
749 | N>K | No |
ClinGen gnomAD |
|
|
rs1433480058 CA368810505 |
750 | K>N | No |
ClinGen gnomAD |
|
|
rs200585571 CA4428100 |
751 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4428102 rs776095176 |
752 | P>L | No |
ClinGen ExAC |
|
|
rs117406926 CA4428101 |
752 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1399503536 CA368810554 |
753 | L>P | No |
ClinGen gnomAD |
|
|
CA368810916 rs1466830829 |
758 | E>Q | No |
ClinGen gnomAD |
|
|
rs368556227 CA4428165 |
759 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA164097544 rs867904327 |
761 | T>N | No |
ClinGen Ensembl |
|
|
CA368811255 rs1442406712 |
762 | A>T | No |
ClinGen TOPMed |
|
|
CA368811271 rs1485050992 |
762 | A>V | No |
ClinGen gnomAD |
|
|
rs568500027 CA4428167 |
763 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4428169 rs755431104 |
766 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421416591 CA368811396 |
768 | V>L | No |
ClinGen gnomAD |
|
|
rs745838690 CA4428195 |
769 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1212566823 CA368812124 |
769 | E>K | No |
ClinGen gnomAD |
|
|
rs1232265824 CA368812137 |
770 | T>A | No |
ClinGen gnomAD |
|
|
CA368812144 rs1479600749 |
770 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775163683 CA368812165 |
771 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs372864544 CA4428199 |
772 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368555767 CA4428198 |
772 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1162359573 CA368812195 |
773 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 775 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368812231 rs1425260586 |
776 | I>L | No |
ClinGen gnomAD |
|
|
rs778071895 CA164099988 |
776 | I>T | No |
ClinGen Ensembl |
|
|
CA4428200 rs776467976 |
777 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4428202 rs764859137 |
778 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4428204 rs755544667 |
779 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4428205 rs755544667 |
779 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs77032595 CA4428206 |
780 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4428207 rs756567797 COSM260031 COSM260032 |
781 | A>V | Variant assessed as Somatic; 9.362e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA368812299 rs1412950307 |
783 | D>G | No |
ClinGen gnomAD |
|
|
rs1280359367 CA368812321 |
785 | V>L | No |
ClinGen gnomAD |
|
|
rs1160619227 CA368812731 |
787 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA368812730 rs1160619227 |
787 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs368743207 CA4428221 |
787 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4428220 rs368743207 |
787 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554534589 CA368812742 |
789 | T>A | No |
ClinGen Ensembl |
|
|
CA368812744 rs1563317233 |
789 | T>K | No |
ClinGen Ensembl |
|
|
CA368812745 rs1563317233 |
789 | T>R | No |
ClinGen Ensembl |
|
|
CA368812752 rs1400411313 |
790 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1012160039 CA164101640 |
790 | Y>H | No |
ClinGen Ensembl |
|
|
rs1316291494 CA368812754 |
791 | E>K | No |
ClinGen gnomAD |
|
|
CA164101646 rs970693801 |
797 | G>R | No |
ClinGen Ensembl |
|
|
rs140818720 CA368812804 |
798 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4428223 rs140818720 |
798 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368812803 rs140818720 |
798 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368812835 rs1286983688 |
802 | K>T | No |
ClinGen TOPMed |
|
|
CA368812855 rs1563317354 |
805 | L>I | No |
ClinGen Ensembl |
|
|
CA368812857 rs1218260104 |
805 | L>P | No |
ClinGen TOPMed |
|
|
rs1031052496 CA164101681 |
808 | M>K | No |
ClinGen gnomAD |
|
|
CA4428224 rs772859687 |
808 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350928279 CA368812897 |
811 | W>* | No |
ClinGen gnomAD |
|
|
rs1232214106 CA368812895 |
811 | W>R | No |
ClinGen gnomAD |
|
|
rs1585890605 CA368812907 |
812 | K>R | No |
ClinGen Ensembl |
|
|
rs1469443665 CA368812911 |
813 | E>K | No |
ClinGen gnomAD |
|
|
rs200338810 CA4428227 |
815 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4428228 rs199707821 |
815 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4428229 rs191258679 |
816 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364793075 CA368812957 |
819 | A>V | No |
ClinGen gnomAD |
|
|
CA4428230 rs371007870 |
820 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4428231 rs373916033 |
821 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368812966 rs373916033 |
821 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779162025 CA4428232 |
822 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532858563 CA4428233 |
822 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758540953 CA4428234 |
823 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs376727941 CA4428235 |
824 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368812978 rs376727941 |
824 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164538528 CA368812992 |
826 | A>D | No |
ClinGen TOPMed |
|
|
rs746993178 CA4428236 |
828 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 828 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781141735 CA4428238 |
829 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768441031 COSM598234 CA4428237 COSM598235 |
829 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA368813024 rs1191536819 |
831 | G>E | No |
ClinGen TOPMed |
|
|
rs1336221097 CA368813032 |
832 | S>L | No |
ClinGen gnomAD |
|
|
CA368813036 rs762482182 |
833 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4428242 rs762482182 |
833 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4428243 rs184921567 |
834 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368813039 rs1467513834 |
834 | R>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 834 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 836 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368813061 rs1192509290 |
837 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1222064958 CA368813068 |
838 | W>* | No |
ClinGen TOPMed |
|
|
CA4428245 rs1554534802 |
838 | W>* | No |
ClinGen Ensembl |
|
|
CA368813084 rs1336789168 |
840 | E>A | No |
ClinGen TOPMed |
|
|
CA368813088 rs1251645471 |
840 | E>D | No |
ClinGen gnomAD |
|
|
rs1395329879 CA368813093 |
841 | D>G | No |
ClinGen gnomAD |
|
|
rs761247208 CA4428247 |
842 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4428249 rs754327184 |
844 | S>G | No |
ClinGen ExAC |
|
|
CA368813124 rs1256060794 |
846 | K>E | No |
ClinGen TOPMed |
|
|
CA4428250 rs762229965 |
846 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs373954340 CA368813132 |
847 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373954340 CA4428252 |
847 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384659979 CA368813135 |
848 | W>G | No |
ClinGen TOPMed |
|
|
CA4428253 rs758505300 |
849 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4428254 rs557032453 |
850 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4428256 rs368148291 |
851 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4428255 rs751529948 |
851 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326367624 CA368813165 |
852 | A>V | No |
ClinGen gnomAD |
|
|
CA368813167 rs1356969278 |
853 | G>S | No |
ClinGen gnomAD |
|
|
CA368813175 rs1292106622 |
854 | L>Q | No |
ClinGen gnomAD |
|
|
rs201065251 CA368813180 |
855 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777658116 CA164101964 |
855 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 855 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201065251 CA4428258 |
855 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391531519 CA368813183 |
856 | S>P | No |
ClinGen gnomAD |
|
|
rs777688552 CA4428260 |
859 | E>D | No |
ClinGen ExAC |
|
|
rs756014289 CA4428259 |
859 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749000079 CA4428261 |
860 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs146023078 CA4428262 |
861 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368813224 rs1486110027 |
862 | K>M | No |
ClinGen gnomAD |
|
|
CA368813221 rs1431612139 |
862 | K>Q | No |
ClinGen TOPMed |
|
|
rs1266964180 CA368813227 |
863 | L>V | No |
ClinGen TOPMed |
|
|
CA368813236 rs1585891858 |
864 | G>V | No |
ClinGen Ensembl |
|
|
rs771563592 CA4428265 |
870 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA368813291 rs1373578412 |
872 | A>D | No |
ClinGen gnomAD |
|
|
rs777159974 CA4428267 |
874 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA368813303 rs1461477887 |
874 | M>V | No |
ClinGen gnomAD |
|
|
CA164102032 rs749156025 |
876 | R>G | No |
ClinGen Ensembl |
|
|
CA4428268 rs762281447 |
876 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA368813328 rs1434913052 |
877 | A>V | No |
ClinGen gnomAD |
|
|
rs200700480 CA4428269 |
878 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1383421692 CA368813340 |
879 | P>L | No |
ClinGen gnomAD |
|
|
rs1225943124 CA368813361 |
882 | H>L | No |
ClinGen gnomAD |
|
|
rs1326346871 CA368813358 |
882 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4428271 rs773412927 |
883 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368813372 rs1370572891 |
884 | G>E | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q6ZTQ4
1 regional properties for Q6ZTQ4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CCZ1/INTU/HSP4, first Longin domain | 4 - 113 | IPR043987 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| virus receptor activity | Combining with a virus component and mediating entry of the virus into the cell. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules | The attachment of one cell to another cell via adhesion molecules that require the presence of calcium for the interaction. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQEAIILLAL | LGAMSGGEAL | HLILLPATGN | VAENSPPGTS | VHKFSVKLSA | SLSPVIPGFP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QIVNSNPLTE | AFRVNWLSGT | YFEVVTTGME | QLDFETGPNI | FDLQIYVKDE | VGVTDLQVLT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VQVTDVNEPP | QFQGNLAEGL | HLYIVERANP | GFIYQVEAFD | PEDTSRNIPL | SYFLISPPKS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FRMSANGTLF | STTELDFEAG | HRSFHLIVEV | RDSGGLKAST | ELQVNIVNLN | DEVPRFTSPT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RVYTVLEELS | PGTIVANITA | EDPDDEGFPS | HLLYSITTVS | KYFMINQLTG | TIQVAQRIDR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DAGELRQNPT | ISLEVLVKDR | PYGGQENRIQ | ITFIVEDVND | NPATCQKFTF | SIMVPERTAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GTLLLDLNKF | CFDDDSEAPN | NRFNFTMPSG | VGSGSRFLQD | PAGSGKIVLI | GDLDYENPSN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LAAGNKYTVI | IQVQDVAPPY | YKNNVYVYIL | TSPENEFPLI | FDRPSYVFDV | SERRPARTRV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GQVRATDKDL | PQSSLLYSIS | TGGASLQYPN | VFWINPKTGE | LQLVTKVDCE | TTPIYILRIQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ATNNEDTSSV | TVTVNILEEN | DEKPICTPNS | YFLALPVDLK | VGTNIQNFKL | TCTDLDSSPR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SFRYSIGPGN | VNNHFTFSPN | AGSNVTRLLL | TSRFDYAGGF | DKIWDYKLLV | YVTDDNLMSD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RKKAEALVET | GTVTLSIKVI | PHPTTIITTT | PRPRVTYQVL | RKNVYSPSAW | YVPFVITLGS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ILLLGLLVYL | VVLLAKAIHR | HCPCKTGKNK | EPLTKKGETK | TAERDVVVET | IQMNTIFDGE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AIDPVTGETY | EFNSKTGARK | WKDPLTQMPK | WKESSHQGAA | PRRVTAGEGM | GSLRSANWEE |
| 850 | 860 | 870 | 880 | ||
| DELSGKAWAE | DAGLGSRNEG | GKLGNPKNRN | PAFMNRAYPK | PHPGK |