Q6ZUM4
PR
Gene name |
ARHGAP27 |
Protein name |
Rho GTPase-activating protein 27 |
Names |
CIN85-associated multi-domain-containing Rho GTPase-activating protein 1, Rho-type GTPase-activating protein 27, SH3 domain-containing protein 20 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:201176 |
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
2 structures for Q6ZUM4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3PP2 | X-ray | 142 A | A/B | 491-613 | PDB |
| AF-Q6ZUM4-F1 | Predicted | AlphaFoldDB |
757 variants for Q6ZUM4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA399887240 rs1474399266 |
5 | V>A | No |
ClinGen Ensembl |
|
|
CA399887243 rs1303197552 COSM3983502 |
5 | V>M | ovary [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
rs1169862160 CA399887231 CA399887230 |
7 | G>R | No |
ClinGen gnomAD |
|
|
rs772819328 CA399887217 |
8 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA8615264 rs772819328 |
8 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
rs546150279 CA8615262 |
9 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8615261 rs1058264 |
10 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768356099 CA8615260 |
11 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768356099 CA399887161 |
11 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749104840 CA8615259 |
12 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA399887117 rs1251206258 |
14 | E>Q | No |
ClinGen gnomAD |
|
|
rs769835228 CA8615257 |
14 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA8615256 rs745759444 |
15 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1259421262 CA399887086 |
16 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8615255 rs781138654 |
19 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
CA8615254 rs757314905 |
20 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399887002 rs757314905 |
20 | T>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399886988 rs1297587368 |
21 | G>D | No |
gnomAD ClinGen |
|
|
CA8615252 rs777985670 |
21 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs753128345 CA399886949 |
23 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA399886919 rs1162867782 |
25 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA8615249 rs765488838 |
25 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA399886910 rs765488838 |
25 | R>P | No |
ExAC gnomAD ClinGen |
|
|
rs1162867782 CA399886915 |
25 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399886896 rs1167392024 |
26 | R>H | No |
gnomAD ClinGen |
|
|
rs1206891287 CA399886872 |
27 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1250233863 CA399886881 |
27 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1178353869 CA399886868 |
28 | A>P | No |
ClinGen gnomAD |
|
|
rs1567744031 CA399886813 |
30 | R>Q | No |
Ensembl ClinGen |
|
|
rs1459471400 CA399886823 |
30 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA399886797 rs1476961036 |
31 | P>Q | No |
TOPMed ClinGen |
|
|
CA399886751 rs1351422062 |
33 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA291098152 rs563835829 |
34 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1285167274 CA399886724 |
34 | R>L | No |
gnomAD ClinGen |
|
|
CA291098148 rs911902299 |
35 | Y>* | No |
ClinGen TOPMed |
|
|
CA399886662 rs1567743910 |
37 | L>V | No |
Ensembl ClinGen |
|
|
rs754321879 CA8615246 |
39 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766868219 CA8615245 |
40 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs1306021547 CA399886568 |
43 | E>D | No |
ClinGen gnomAD |
|
|
rs1240863442 CA399886546 |
45 | W>R | No |
ClinGen gnomAD |
|
|
rs1378953686 CA399886514 |
46 | W>* | No |
ClinGen gnomAD |
|
|
rs763892574 CA8615242 CA8615243 |
47 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA291098128 rs987644816 |
47 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs932255399 CA291098120 |
48 | V>A | No |
TOPMed ClinGen |
|
|
rs1399454692 CA399886488 |
48 | V>L | No |
TOPMed ClinGen |
|
|
CA399886478 rs1597882810 |
49 | R>W | No |
Ensembl ClinGen |
|
|
rs1363640833 CA399886421 |
52 | P>L | No |
gnomAD ClinGen |
|
|
CA399886433 rs1451887353 |
52 | P>T | No |
ClinGen gnomAD |
|
|
rs1325533955 CA399886408 |
54 | G>S | No |
ClinGen TOPMed |
|
|
CA399886398 rs1286215262 |
54 | G>V | No |
gnomAD ClinGen |
|
|
CA8615240 rs545535378 |
55 | R>C | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA399886350 rs1442090144 |
58 | Y>H | No |
ClinGen gnomAD |
|
|
rs1284987480 CA399886316 |
60 | P>L | No |
ClinGen TOPMed |
|
|
CA399886263 rs1597882618 |
63 | Y>* | No |
Ensembl ClinGen |
|
|
rs530716631 CA291098110 |
64 | V>M | No |
1000Genomes ClinGen |
|
|
rs990083965 CA291098107 |
65 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1031207554 CA399886131 |
72 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399886104 rs1484683402 |
74 | A>D | No |
ClinGen gnomAD |
|
|
CA399886074 rs770847352 |
76 | A>P | No |
ClinGen ExAC TOPMed |
|
|
rs770847352 CA8615236 |
76 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1355807506 CA399886034 |
78 | P>L | No |
ClinGen gnomAD |
|
|
rs1355807506 CA399886032 |
78 | P>Q | No |
ClinGen gnomAD |
|
|
CA399886008 rs1233447846 |
80 | G>C | No |
ClinGen gnomAD |
|
|
rs1331795213 CA399885995 |
80 | G>V | No |
ClinGen gnomAD |
|
|
rs1224945858 CA399885990 |
81 | P>A | No |
ClinGen TOPMed |
|
|
rs1380757974 CA399885979 |
82 | H>N | No |
ClinGen gnomAD |
|
|
CA399885949 rs1384442511 |
83 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1384442511 CA399885950 |
83 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399885955 rs1179826713 |
83 | P>T | No |
gnomAD ClinGen |
|
|
CA399885938 rs758660903 |
84 | S>I | No |
ExAC gnomAD ClinGen |
|
|
CA8615232 rs758660903 |
84 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs1374000448 CA399885912 |
85 | P>L | No |
gnomAD ClinGen |
|
|
rs1173602347 CA399885903 |
86 | A>V | No |
gnomAD ClinGen |
|
|
CA8615231 rs748350183 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1426378559 CA399885824 |
90 | P>S | No |
gnomAD ClinGen |
|
|
rs779145321 CA8615230 |
96 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399885655 rs1217097402 |
99 | S>N | No |
ClinGen gnomAD |
|
|
CA399885634 rs1417521731 |
100 | A>S | No |
ClinGen TOPMed |
|
|
rs1277889505 CA399885598 |
102 | A>V | No |
ClinGen gnomAD |
|
|
rs1345557617 CA399885580 |
104 | A>T | No |
ClinGen gnomAD |
|
|
CA8615229 rs755328454 |
105 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1365973399 CA399885541 |
106 | P>R | No |
TOPMed ClinGen |
|
|
rs1225284345 CA399885533 |
107 | D>N | No |
ClinGen gnomAD |
|
|
CA399885501 rs1404166309 |
108 | G>V | No |
ClinGen TOPMed |
|
|
CA399885498 rs1326093014 |
109 | A>T | No |
gnomAD ClinGen |
|
|
CA399885487 rs1337506031 |
109 | A>V | No |
TOPMed ClinGen |
|
|
rs1195247891 CA399885476 |
110 | P>R | No |
TOPMed gnomAD ClinGen |
|
|
CA291098056 rs899241844 |
111 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1036823101 CA291098055 |
114 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1004927598 CA291098052 |
115 | G>S | No |
ClinGen TOPMed |
|
|
CA399885379 rs1253080117 |
117 | A>G | No |
TOPMed ClinGen |
|
|
rs12949256 CA8615227 |
117 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399885365 rs1415563935 |
118 | S>N | No |
ClinGen gnomAD |
|
|
rs1404901715 CA399885357 |
118 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1181677472 CA399885334 |
120 | L>Q | No |
TOPMed ClinGen |
|
|
CA399885304 rs1051728535 |
122 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1422258213 CA399885300 |
122 | G>D | No |
gnomAD ClinGen |
|
|
CA291098049 rs1051728535 |
122 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs112297852 CA291098046 |
123 | P>R | No |
Ensembl ClinGen |
|
|
rs932224149 CA291098044 |
124 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA399885233 rs1291618274 |
131 | Q>H | No |
TOPMed ClinGen |
|
|
CA399885229 rs1186493488 |
132 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs751178513 CA8615225 |
132 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1186493488 CA399885231 |
132 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399885225 rs1330525423 |
133 | S>G | No |
TOPMed ClinGen |
|
|
CA399885215 rs1258122534 |
134 | S>I | No |
ClinGen gnomAD |
|
|
rs1053955069 CA291098038 |
136 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
CA291098035 rs936868843 |
137 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399885196 rs1258786568 |
137 | P>L | No |
ClinGen gnomAD |
|
|
rs936868843 CA399885199 |
137 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399885188 rs1253485222 |
139 | L>V | No |
TOPMed ClinGen |
|
|
rs1293071789 CA399885170 |
142 | C>G | No |
TOPMed gnomAD ClinGen |
|
|
rs763663038 CA8615224 |
142 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399885164 rs1298165119 |
143 | L>V | No |
gnomAD ClinGen |
|
|
CA8615222 rs775038884 |
145 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1391292313 CA399885142 |
146 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA399885098 rs1406089091 |
149 | A>T | No |
gnomAD ClinGen |
|
|
CA399885068 rs1243192317 |
150 | P>L | No |
TOPMed ClinGen |
|
|
rs764880570 CA8615221 |
151 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597881352 CA399885043 |
153 | P>T | No |
ClinGen Ensembl |
|
|
rs917558326 CA291098024 |
154 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs990511751 CA291098022 |
155 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1454493720 CA399885006 |
155 | Q>H | No |
ClinGen TOPMed |
|
|
CA399885012 rs1405092189 |
155 | Q>R | No |
ClinGen gnomAD |
|
|
CA399884955 rs1238952220 |
159 | D>H | No |
gnomAD ClinGen |
|
|
rs1238952220 CA399884952 |
159 | D>Y | No |
gnomAD ClinGen |
|
|
rs1457251038 CA399884921 |
160 | L>P | No |
ClinGen gnomAD |
|
|
rs1467337883 CA399884853 |
164 | A>V | No |
gnomAD ClinGen |
|
|
rs760576129 CA8615216 |
167 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA399884791 rs1327231304 |
170 | G>D | No |
TOPMed ClinGen |
|
|
rs1476575786 CA399884794 |
170 | G>S | No |
ClinGen gnomAD |
|
|
CA291098014 rs1027353456 |
171 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA291098010 rs995446569 |
171 | L>P | No |
ClinGen TOPMed |
|
|
CA399884748 rs1378209203 |
177 | S>N | No |
gnomAD ClinGen |
|
|
CA399884725 rs1331476580 |
180 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399884727 rs1331476580 |
180 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA399884716 rs1263253329 |
181 | C>F | No |
ClinGen TOPMed |
|
|
rs1448288423 CA399884720 |
181 | C>G | No |
gnomAD ClinGen |
|
|
CA399884712 rs1391624264 |
182 | S>G | No |
gnomAD ClinGen |
|
|
CA399884707 rs1482606523 |
182 | S>R | No |
TOPMed ClinGen |
|
|
rs1322516845 CA399884705 |
183 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA399884698 rs1422281375 |
184 | A>P | No |
ClinGen gnomAD |
|
|
CA8615214 rs772160269 |
185 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs748022267 CA291098006 |
185 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399884685 rs1439013514 |
186 | S>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1439013514 CA399884684 |
186 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1470935663 CA399884682 |
187 | W>R | No |
ClinGen TOPMed |
|
|
CA399884679 rs1380798216 |
187 | W>S | No |
ClinGen gnomAD |
|
|
CA399884657 rs1246175052 |
190 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs961465610 CA291098002 |
192 | P>R | No |
ClinGen TOPMed |
|
|
rs779006832 CA8615212 |
194 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768865342 CA8615211 |
194 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312155350 CA399884619 |
197 | D>G | No |
gnomAD ClinGen |
|
|
rs865937635 CA399884621 |
197 | D>H | No |
TOPMed gnomAD ClinGen |
|
|
rs865937635 CA291097995 |
197 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
CA291097986 rs865937635 |
197 | D>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs749668351 CA8615210 |
198 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs749668351 CA399884611 |
198 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA399884610 rs1368233095 |
199 | E>K | No |
ClinGen gnomAD |
|
|
CA399884601 rs1273718672 |
200 | N>D | No |
ClinGen gnomAD |
|
|
rs780458224 CA8615209 |
200 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1276722366 CA399884591 |
201 | V>A | No |
TOPMed ClinGen |
|
|
CA399884585 rs1315999688 |
202 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1597880615 CA399884574 |
203 | E>D | No |
ClinGen Ensembl |
|
|
CA399884581 rs1224666769 |
203 | E>K | No |
TOPMed ClinGen |
|
|
CA399884552 rs1301118358 |
207 | D>N | No |
TOPMed ClinGen |
|
|
rs1160431248 CA399884535 |
209 | H>Y | No |
ClinGen gnomAD |
|
|
rs1424624257 CA399884526 |
210 | V>D | No |
gnomAD ClinGen |
|
|
CA399884529 rs1432784343 |
210 | V>L | No |
gnomAD ClinGen |
|
|
rs1240522141 CA399884521 |
211 | P>Q | No |
ClinGen gnomAD |
|
|
CA399884522 rs757989495 |
211 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA8615205 rs757989495 |
211 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs868084713 CA399884515 |
212 | P>L | No |
gnomAD ClinGen |
|
|
rs868084713 CA291097970 |
212 | P>Q | No |
gnomAD ClinGen |
|
|
rs1488842386 CA399884518 |
212 | P>T | No |
ClinGen gnomAD |
|
|
CA399884509 rs2959953 |
213 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs2959953 CA399884510 |
213 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8615203 rs2959953 |
213 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1312062904 CA399884511 |
213 | P>S | No |
gnomAD ClinGen |
|
|
rs1312062904 CA399884513 |
213 | P>T | No |
gnomAD ClinGen |
|
|
rs753616283 CA8615201 |
214 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA8615198 rs773162056 |
216 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs559077217 CA8615200 |
216 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868785048 CA291097946 |
217 | A>S | No |
ClinGen gnomAD |
|
|
CA399876480 rs1366489535 |
220 | V>M | No |
ClinGen gnomAD |
|
|
rs888050039 CA291084569 |
222 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1245045540 CA399876385 |
223 | P>L | No |
gnomAD ClinGen |
|
|
CA399876369 rs1196782122 |
224 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1220660781 CA399876337 |
225 | E>D | No |
ClinGen gnomAD |
|
|
rs765390507 CA8615137 |
225 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399876334 rs1235350692 |
226 | P>T | No |
ClinGen TOPMed |
|
|
rs970775635 CA291084554 |
228 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1049222325 CA399876268 |
229 | A>G | No |
ClinGen gnomAD |
|
|
CA399876278 rs1178485150 |
229 | A>T | No |
ClinGen TOPMed |
|
|
CA291084545 rs1049222325 |
229 | A>V | No |
gnomAD ClinGen |
|
|
CA399876236 rs1025074954 |
231 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA291084534 rs1025074954 |
231 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
rs142833021 CA8615136 |
232 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA291084522 rs142833021 |
232 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs535221604 CA291084504 |
233 | R>T | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1331698133 CA399876166 |
234 | Q>K | No |
gnomAD ClinGen |
|
|
CA399876119 rs1162358694 |
236 | R>Q | No |
ClinGen gnomAD |
|
|
rs897413080 CA291084499 |
236 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA399876093 rs1473102718 |
237 | A>V | No |
ClinGen gnomAD |
|
|
CA399876026 rs1567707870 |
241 | G>A | No |
ClinGen Ensembl |
|
|
rs1176674645 CA399875996 |
243 | A>T | No |
gnomAD ClinGen |
|
|
rs944228588 CA291084467 |
246 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
CA399875946 rs1238862610 |
246 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs944228588 CA399875955 |
246 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs2139889 CA291084459 |
247 | L>V | No |
Ensembl ClinGen |
|
|
rs1289624195 CA399875925 |
248 | P>S | No |
ClinGen gnomAD |
|
|
CA291084457 rs868310412 |
250 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA291084419 rs944832019 CA399875875 |
251 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
CA399875769 rs761112083 |
255 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1240020400 CA399875754 |
256 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399875716 rs1309281670 |
258 | A>V | No |
gnomAD ClinGen |
|
|
CA399875686 rs1420618276 |
260 | T>S | No |
ClinGen TOPMed |
|
|
rs1322677094 CA399875651 |
262 | R>C | No |
gnomAD ClinGen |
|
|
rs1407111353 CA399875648 |
262 | R>H | No |
TOPMed ClinGen |
|
|
rs1322677094 CA399875655 |
262 | R>S | No |
gnomAD ClinGen |
|
|
rs1301772093 CA399875610 |
264 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA291084346 rs778204833 |
265 | Y>C | No |
ClinGen gnomAD |
|
|
rs1367172652 CA399875511 |
270 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA291084319 rs376026230 |
270 | T>S | No |
Ensembl ClinGen |
|
|
CA399875487 rs1381017711 |
273 | T>A | No |
ClinGen gnomAD |
|
|
CA399875474 rs1477181300 |
274 | T>I | No |
ClinGen gnomAD |
|
|
CA399875432 rs1246299164 |
278 | P>T | No |
ClinGen gnomAD |
|
|
rs1199827822 CA399875418 |
279 | F>I | No |
gnomAD ClinGen |
|
|
CA399875404 rs1490955606 |
280 | E>Q | No |
gnomAD ClinGen |
|
|
CA399875369 rs1156742193 |
283 | E>A | No |
ClinGen gnomAD |
|
|
CA399875359 rs1354964539 |
284 | G>C | No |
gnomAD ClinGen |
|
|
CA399875333 rs1342231652 |
287 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8615129 rs775029723 |
291 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA399875275 rs1436743411 |
292 | P>A | No |
gnomAD ClinGen |
|
|
CA399875270 rs1487082109 |
292 | P>L | No |
TOPMed ClinGen |
|
|
rs62064601 CA291084284 |
293 | A>G | No |
Ensembl ClinGen |
|
|
CA8615128 rs769314831 |
294 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA399875251 rs769314831 |
294 | S>W | No |
ExAC gnomAD ClinGen |
|
|
rs1399330561 CA399875240 |
295 | V>A | No |
ClinGen gnomAD |
|
|
CA399875237 rs1361046443 |
296 | D>N | No |
gnomAD ClinGen |
|
|
rs956743867 CA291084283 |
297 | S>N | No |
TOPMed ClinGen |
|
|
rs1412892229 CA399875199 |
298 | H>Q | No |
gnomAD ClinGen |
|
| rs745340634 | 303 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1234737153 | 304 | E>A | No | TOPMed | |
| rs780899616 | 304 | E>K | No |
ExAC gnomAD |
|
| rs1488914950 | 305 | W>* | No | gnomAD | |
| rs1181385037 | 307 | Q>R | No | gnomAD | |
| rs1244380142 | 310 | D>E | No | gnomAD | |
| rs971245568 | 314 | R>H | No | TOPMed | |
| rs770478649 | 319 | Y>C | No | ExAC | |
| rs1223764020 | 321 | P>L | No | gnomAD | |
| rs1378730390 | 323 | T>M | No | TOPMed | |
| rs1362374479 | 324 | G>D | No | gnomAD | |
| rs1217738936 | 324 | G>S | No | gnomAD | |
| rs372913753 | 325 | E>K | No |
ESP TOPMed gnomAD |
|
| rs1445732347 | 326 | T>A | No | gnomAD | |
| rs1358717589 | 327 | A>P | No | gnomAD | |
| rs1164212160 | 329 | E>K | No | TOPMed | |
| rs777400134 | 330 | D>E | No |
ExAC gnomAD |
|
| rs1390381920 | 330 | D>N | No | TOPMed | |
| rs758409986 | 331 | E>K | No |
ExAC gnomAD |
|
| rs1353524766 | 332 | A>T | No | gnomAD | |
| rs752707765 | 334 | N>K | No |
ExAC gnomAD |
|
| rs200571162 | 335 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs778958489 | 335 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1478375178 | 335 | E>K | No | gnomAD | |
| rs1478375178 | 335 | E>Q | No | gnomAD | |
| rs766678104 | 336 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs766678104 | 336 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1462395370 | 337 | E>A | No | gnomAD | |
| rs760799467 | 337 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1197588872 | 339 | E>D | No | gnomAD | |
| rs1255817229 | 339 | E>K | No | gnomAD | |
| rs375780463 | 341 | E>Q | No |
ESP gnomAD |
|
| rs750835884 | 343 | Q>* | No |
ExAC gnomAD |
|
| rs767751348 | 343 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs762115729 | 344 | P>L | No |
ExAC gnomAD |
|
| rs532181899 | 345 | G>V | No |
1000Genomes ExAC gnomAD |
|
| rs1355364535 | 347 | S>C | No | TOPMed | |
| rs1597798196 | 349 | G>S | No | Ensembl | |
| rs1356653369 | 351 | P>L | No | gnomAD | |
| rs777438341 | 353 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs777438341 | 353 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1415099667 | 354 | P>Q | No | gnomAD | |
| rs1445974764 | 355 | R>Q | No | gnomAD | |
| rs772027234 | 355 | R>W | No |
ExAC gnomAD |
|
|
CA399874559 rs748016302 |
356 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8615085 rs748016302 |
356 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8615084 rs147677035 |
357 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8615082 rs749154967 |
358 | T>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1362886373 CA399874550 |
358 | T>S | No |
ClinGen TOPMed |
|
|
CA399874552 rs749154967 |
358 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346605906 CA399874543 |
359 | P>L | No |
gnomAD ClinGen |
|
|
CA399874538 rs1398704604 |
360 | E>D | No |
ClinGen gnomAD |
|
|
CA291083611 rs972443255 |
360 | E>K | No |
Ensembl ClinGen |
|
|
rs779992882 CA8615081 |
360 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA399874531 rs1360389324 |
361 | T>M | No |
ClinGen gnomAD |
|
|
CA399874497 rs1401021719 |
364 | P>A | No |
ClinGen TOPMed |
|
|
rs1192198575 CA399874458 |
367 | L>M | No |
gnomAD ClinGen |
|
|
rs1325211253 CA399874399 |
371 | P>L | No |
TOPMed ClinGen |
|
|
rs1555555739 CA399874360 |
374 | D>N | No |
Ensembl ClinGen |
|
|
CA8615080 rs200245615 |
375 | Y>C | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs745892851 CA8615079 |
377 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA399874307 rs1212043150 |
378 | V>M | No |
ClinGen gnomAD |
|
|
CA8615078 rs781404326 |
379 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8615073 rs753180181 |
386 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA291083466 rs1019200977 |
387 | T>P | No |
ClinGen Ensembl |
|
|
rs1254322661 CA399874142 |
390 | L>V | No |
gnomAD ClinGen |
|
|
rs1232830635 CA399874098 |
393 | P>S | No |
gnomAD ClinGen |
|
|
CA399874087 rs1218853453 |
394 | P>A | No |
gnomAD ClinGen |
|
|
rs1285604127 CA399874077 |
394 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767343491 CA8615069 |
395 | G>S | No |
ExAC ClinGen |
|
|
rs1445278718 CA399874050 |
396 | W>* | No |
TOPMed ClinGen |
|
|
CA291083448 rs919992321 |
397 | S>A | No |
ClinGen TOPMed |
|
|
rs1567704438 CA399874028 |
398 | C>Y | No |
ClinGen Ensembl |
|
|
rs548521547 CA8615068 |
399 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs889264650 CA291083435 |
399 | H>Y | No |
ClinGen Ensembl |
|
|
CA399873952 rs1300497860 |
405 | Q>K | No |
gnomAD ClinGen |
|
|
CA399873943 rs1555555634 |
406 | M>L | No |
Ensembl ClinGen |
|
|
rs1171799329 CA399873918 |
407 | L>P | No |
TOPMed ClinGen |
|
|
CA399873893 rs1383260560 |
409 | T>A | No |
ClinGen TOPMed |
|
|
CA399873885 rs1407634694 |
409 | T>I | No |
ClinGen TOPMed |
|
|
CA399873874 rs1324760417 |
410 | N>S | No |
TOPMed ClinGen |
|
|
CA291083426 rs865948265 |
411 | H>N | No |
Ensembl ClinGen |
|
|
rs775292988 CA8615064 |
411 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1178116731 CA399873814 |
414 | Q>L | No |
ClinGen gnomAD |
|
|
CA291083381 rs974209180 |
415 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs769713670 CA8615063 |
415 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399873792 rs1439563996 |
416 | Q>E | No |
ClinGen TOPMed |
|
|
rs775341288 CA8615044 |
423 | P>R | No |
ExAC gnomAD ClinGen |
|
|
rs112271108 CA291083031 |
424 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399873631 rs1247345869 |
424 | H>Y | No |
ClinGen gnomAD |
|
|
CA399873621 rs1168633519 |
425 | G>E | No |
gnomAD ClinGen |
|
|
rs370591160 CA8615042 |
425 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747027600 CA8615039 |
430 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475104389 CA399873553 |
430 | Y>H | No |
ClinGen gnomAD |
|
|
CA399873502 rs1392956974 |
433 | E>V | No |
ClinGen gnomAD |
|
|
CA291083019 rs1038855135 |
435 | S>P | No |
TOPMed ClinGen |
|
|
CA8615038 rs777988076 COSM259487 |
438 | R>* | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA291082962 rs772327132 |
438 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs772327132 CA8615037 |
438 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs940087407 CA291082950 |
439 | W>R | No |
TOPMed gnomAD ClinGen |
|
|
rs893850491 CA291082936 |
440 | E>A | No |
Ensembl ClinGen |
|
|
CA8615036 rs748530801 |
440 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779302588 CA399873385 |
441 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755484118 CA8615034 |
442 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs754414421 CA8615033 COSM980150 |
443 | Q>P | endometrium [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs267604917 CA291082774 |
445 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8615009 rs267604917 |
445 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs764730953 CA8615008 |
446 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA291082759 rs1046460782 |
447 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8615007 rs754785307 |
448 | A>D | No |
ExAC gnomAD ClinGen |
|
|
rs766373687 CA8615005 |
449 | P>R | No |
ExAC gnomAD ClinGen |
|
|
rs753621742 CA8615006 |
449 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs1215692427 CA399873188 |
450 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1215692427 CA399873192 |
450 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA8615004 rs760578058 |
450 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1234292377 CA399872027 |
453 | H>D | No |
ClinGen TOPMed |
|
|
CA8615003 rs767655130 |
456 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA8615002 rs767655130 |
456 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA8615001 rs761754577 |
457 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8615000 rs774633760 |
458 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs112715622 CA8614999 |
459 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8614998 rs749728893 |
461 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA8614996 rs770463244 |
465 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs1413000836 CA399871679 |
467 | P>S | No |
gnomAD ClinGen |
|
|
CA8614993 rs527403674 |
470 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399871457 rs1489066699 |
473 | P>A | No |
TOPMed ClinGen |
|
|
rs763862087 CA291082436 |
477 | D>E | No |
Ensembl ClinGen |
|
|
rs985110998 CA291082463 |
477 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1384085731 CA399871401 |
477 | D>V | No |
ClinGen gnomAD |
|
|
rs985110998 CA291082442 |
477 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs781247546 CA8614965 |
478 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399871355 rs1248024951 |
480 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
CA399871367 rs1446112465 |
480 | G>R | No |
gnomAD ClinGen |
|
|
rs764246000 CA8614962 CA8614963 |
484 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1379439446 CA399871276 |
484 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8614961 rs200826138 |
485 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1051146058 CA291082376 |
487 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
CA8614960 rs752975185 |
490 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921296351 CA291082346 |
493 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs112691992 CA291082120 |
494 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs932314148 CA291082113 |
496 | T>N | No |
ClinGen TOPMed |
|
|
rs751484626 CA399870960 |
498 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751484626 CA8614945 |
498 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399870952 rs1555554748 |
499 | K>E | No |
Ensembl ClinGen |
|
|
rs1480021763 CA399870945 |
500 | A>T | No |
gnomAD ClinGen |
|
|
CA399870940 rs1255349795 |
500 | A>V | No |
ClinGen TOPMed |
|
|
CA399870931 rs1442550849 |
502 | V>L | No |
gnomAD ClinGen |
|
|
rs765625234 CA8614941 |
504 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA291082085 rs377027866 |
504 | H>R | No |
ClinGen ESP |
|
|
CA399870919 rs1201508056 |
504 | H>Y | No |
gnomAD ClinGen |
|
|
COSM980148 rs759649387 CA8614940 |
505 | R>C | endometrium [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1280120605 CA399870912 |
505 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8614939 rs201721078 |
508 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761056883 CA8614937 |
511 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs1051124792 CA291082054 |
513 | K>Q | No |
ClinGen TOPMed |
|
|
CA8614934 rs151192753 |
514 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs772507085 CA8614935 |
514 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA8614933 rs774974693 |
515 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs776297819 CA8614930 |
516 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745486462 CA8614931 |
516 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399870828 CA399870827 rs1293860548 |
517 | K>N | No |
ClinGen TOPMed |
|
|
CA399870818 rs1334005305 |
519 | H>N | No |
ClinGen TOPMed |
|
|
CA8614902 rs749327460 |
523 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359508183 CA399870772 |
525 | T>A | No |
ClinGen gnomAD |
|
|
CA8614899 rs148632168 |
531 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248926829 CA399870721 |
533 | T>I | No |
TOPMed ClinGen |
|
|
CA8614898 rs767844320 |
535 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8614897 rs757568012 |
536 | K>R | No |
ExAC ClinGen |
|
|
CA8614896 rs546403051 |
539 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373775213 CA291081607 |
539 | K>N | No |
ESP TOPMed ClinGen |
|
|
rs937522899 CA291081599 |
541 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs937522899 CA399870669 |
541 | S>W | No |
TOPMed gnomAD ClinGen |
|
|
CA399870662 rs1469766637 |
542 | A>V | No |
gnomAD ClinGen |
|
|
CA399870659 rs1364762135 |
543 | A>S | No |
ClinGen gnomAD |
|
|
rs1597788510 CA399870652 |
544 | G>D | No |
Ensembl ClinGen |
|
|
rs765989551 CA8614892 |
545 | G>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs765989551 CA8614893 |
545 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399870646 rs1268858992 |
545 | G>V | No |
gnomAD ClinGen |
|
|
CA8614891 rs760384913 |
546 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399870643 rs760384913 |
546 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399870609 rs1197280209 |
549 | P>L | No |
TOPMed ClinGen |
|
|
rs1247969044 CA399870598 |
551 | K>R | No |
ClinGen gnomAD |
|
|
rs143997699 CA8614876 |
552 | F>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs267604916 CA291080910 |
553 | S>F | No |
ClinGen Ensembl |
|
|
CA399870559 rs1268437407 |
555 | P>R | No |
gnomAD ClinGen |
|
|
rs765938858 CA8614875 |
556 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA291080883 rs773268491 |
560 | E>G | No |
ClinGen gnomAD |
|
|
CA8614872 rs767217091 |
569 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158463516 CA399870285 |
570 | P>T | No |
TOPMed ClinGen |
|
|
CA8614870 rs774189135 |
572 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1402393453 CA399870178 |
573 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768512487 CA8614869 |
575 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA399870133 rs17630935 |
575 | S>R | No |
ClinGen gnomAD |
|
|
CA399870070 rs1359111192 |
579 | V>M | No |
ClinGen gnomAD |
|
|
CA399868581 rs1483312373 |
583 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs368752990 CA8614843 |
583 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs909182005 CA291076892 |
584 | S>N | No |
ClinGen gnomAD |
|
|
CA8614842 rs139052373 |
585 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139052373 CA8614841 |
585 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8614840 rs35717383 |
586 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35717383 CA8614839 |
586 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8614836 rs745407695 |
592 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150663614 CA8614833 |
595 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8614834 rs150663614 |
595 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs763585961 CA8614832 |
596 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA399868428 rs1422274715 |
601 | S>R | No |
gnomAD ClinGen |
|
|
CA291076825 rs1007694625 |
602 | T>A | No |
Ensembl ClinGen |
|
|
CA399868419 rs1364402517 |
602 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1597765317 CA399868400 |
603 | W>* | No |
ClinGen Ensembl |
|
|
CA8614830 rs367987670 |
605 | K>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1340397952 CA399868355 |
607 | I>V | No |
ClinGen TOPMed |
|
|
rs776504840 CA8614827 |
609 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs776504840 CA291076792 |
609 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA291076781 rs76353181 |
609 | Q>H | No |
Ensembl ClinGen |
|
|
CA8614826 rs200660366 |
609 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760608101 CA8614825 |
612 | Q>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779879418 CA291076773 |
613 | E>D | No |
ClinGen Ensembl |
|
|
rs138416055 CA8614824 |
613 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs147050844 CA8614802 |
616 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399868144 rs1178127131 |
617 | E>K | No |
gnomAD ClinGen |
|
|
rs555938540 CA8614801 |
619 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034250749 CA291076053 |
620 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA291076044 rs769143822 |
620 | P>L | No |
Ensembl ClinGen |
|
|
CA8614798 rs746569504 |
621 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs770188291 CA8614799 |
621 | E>V | No |
ExAC gnomAD ClinGen |
|
|
rs777125923 CA8614797 |
622 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8614795 rs771562751 |
624 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs771562751 CA399868066 |
624 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1305275954 CA399868056 |
625 | S>N | No |
gnomAD ClinGen |
|
|
CA399868042 rs1165040962 |
627 | R>* | No |
ClinGen TOPMed |
|
|
CA399868043 rs1165040962 |
627 | R>G | No |
ClinGen TOPMed |
|
|
rs1228723796 CA399868036 |
628 | V>M | No |
gnomAD ClinGen |
|
|
rs1334262854 CA399868030 |
629 | D>N | No |
gnomAD ClinGen |
|
|
CA8614792 rs747832477 |
630 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs139027396 CA8614788 CA8614789 |
631 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8614791 rs139027396 |
631 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8614785 rs780110494 |
632 | S>* | No |
ExAC gnomAD ClinGen |
|
|
CA8614786 rs780110494 |
632 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8614787 rs199756859 |
632 | S>P | No |
ClinGen 1000Genomes ExAC |
|
|
CA399868010 rs780110494 |
632 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1050348255 CA291075905 |
633 | S>N | No |
gnomAD ClinGen |
|
|
rs1169253376 CA399868004 |
633 | S>R | No |
gnomAD ClinGen |
|
|
CA8614782 rs767514153 |
634 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8614783 rs767514153 |
634 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751833468 CA8614780 |
635 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8614779 rs200263300 |
635 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA399867993 rs200263300 |
635 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399867994 rs200263300 |
635 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA291075863 rs761351117 |
638 | S>N | No |
gnomAD ClinGen |
|
|
rs763469092 CA8614778 |
641 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399867947 rs1343665851 |
642 | K>E | No |
gnomAD ClinGen |
|
|
rs1312551329 CA399867941 |
642 | K>N | No |
gnomAD ClinGen |
|
|
CA8614775 rs770382952 |
643 | E>D | No |
ClinGen ExAC |
|
|
CA8614777 rs148897544 |
643 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375474591 CA8614774 |
644 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773861287 CA399867917 |
646 | A>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA291075811 rs773861287 |
646 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030053633 CA291075828 |
646 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1030053633 CA399867919 |
646 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1183404 rs773861287 CA8614771 |
646 | A>V | large_intestine [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
COSM1383804 rs900072522 CA399867915 |
647 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs372242163 CA399867914 |
647 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372242163 CA399867913 |
647 | R>P | No |
ESP ExAC gnomAD ClinGen |
|
|
CA8614769 rs372242163 |
647 | R>Q | No |
ESP ExAC gnomAD ClinGen |
|
|
rs778597676 CA8614768 |
648 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA399867908 rs778597676 |
648 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473222880 CA399867894 |
650 | A>V | No |
ClinGen gnomAD |
|
|
CA8614738 rs765440494 |
652 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8614736 rs754223102 |
653 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755353135 CA8614737 |
653 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA8614734 rs373045289 |
654 | A>T | No |
ESP ExAC TOPMed ClinGen |
|
|
rs1425144662 CA399867847 |
654 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA399867839 rs763629512 |
655 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399867841 rs763629512 |
655 | L>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs763629512 CA8614732 |
655 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8614730 rs140979770 |
656 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399867817 rs1248227037 |
657 | P>R | No |
gnomAD ClinGen |
|
|
rs368827618 CA399867811 |
658 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs368827618 CA8614728 |
658 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399867801 rs1277915206 |
659 | G>S | No |
gnomAD ClinGen |
|
|
rs772056533 CA8614722 |
665 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA8614720 rs779068048 |
667 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748243517 CA8614721 |
667 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs748243517 CA291075508 |
667 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755192707 CA8614719 |
668 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1234074142 CA399867651 |
668 | R>L | No |
gnomAD ClinGen |
|
|
rs755192707 CA399867660 |
668 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754199337 CA8614718 |
669 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA399867594 rs1597756978 |
671 | L>R | No |
Ensembl ClinGen |
|
|
rs531423719 CA8614717 |
672 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8614715 rs750936457 |
672 | R>H | No |
ExAC TOPMed ClinGen |
|
|
CA8614716 rs750936457 |
672 | R>L | No |
ExAC TOPMed ClinGen |
|
|
CA8614712 rs762430794 |
673 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA399867510 rs1311077400 |
676 | Q>* | No |
ClinGen gnomAD |
|
|
rs374537739 CA8614710 |
677 | R>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA291075455 rs1052385323 |
678 | R>G | No |
gnomAD ClinGen |
|
|
rs1419710789 CA399867471 |
678 | R>Q | No |
ClinGen TOPMed |
|
|
CA399867479 rs1052385323 |
678 | R>W | No |
ClinGen gnomAD |
|
|
CA8614709 rs759205365 |
679 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200109024 CA8614708 |
681 | L>P | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1444025022 CA399867433 |
681 | L>V | No |
gnomAD ClinGen |
|
|
rs935147101 CA291075454 |
682 | Q>H | No |
ClinGen gnomAD |
|
|
rs770853670 CA8614707 |
683 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs773338624 CA8614705 |
685 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs369459802 CA8614706 |
685 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399867331 rs1285114643 |
687 | K>N | No |
ClinGen gnomAD |
|
|
rs772038844 CA8614704 |
688 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1353321413 CA399867279 |
691 | K>E | No |
ClinGen gnomAD |
|
|
CA8614703 rs748213761 |
691 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8614702 rs779023825 |
692 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs984197223 CA291075251 |
693 | Q>P | No |
ClinGen Ensembl |
|
|
rs369152481 CA399867146 |
695 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778083025 CA8614673 |
696 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754592200 CA8614672 |
697 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs533078667 CA399867102 |
698 | A>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8614670 rs533078667 |
698 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399867090 rs1229584608 |
698 | A>V | No |
gnomAD ClinGen |
|
|
rs755803083 CA399867057 |
701 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755803083 CA8614669 |
701 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291075168 rs920839951 |
701 | A>V | No |
Ensembl ClinGen |
|
|
rs774362215 CA399867024 |
703 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8614665 rs774362215 |
703 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1175941977 CA399867012 |
704 | E>K | No |
TOPMed ClinGen |
|
|
CA399866993 rs1365524911 |
705 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1484260481 CA399866988 |
705 | R>H | No |
ClinGen gnomAD |
|
|
rs775518547 CA8614662 |
706 | E>* | No |
ExAC gnomAD ClinGen |
|
|
rs1567688347 CA399866970 |
706 | E>D | No |
Ensembl ClinGen |
|
|
rs770051091 CA8614661 |
706 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA399866980 rs775518547 COSM231790 |
706 | E>K | skin [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA399866950 rs1193167487 |
707 | R>K | No |
ClinGen gnomAD |
|
|
rs1424982667 CA399866944 |
707 | R>S | No |
TOPMed ClinGen |
|
|
rs926921928 CA291075104 |
708 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs779791561 CA399866914 |
709 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779791561 CA8614660 |
709 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209799868 CA399866919 |
709 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA8614659 rs562893433 |
710 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs544328670 CA399866890 |
711 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs544328670 CA291075082 |
711 | P>R | No |
1000Genomes gnomAD ClinGen |
|
|
rs972329056 CA291075078 |
712 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA399866886 rs1301296091 |
712 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399866885 rs1301296091 |
712 | R>P | No |
TOPMed gnomAD ClinGen |
|
|
rs972329056 CA399866888 |
712 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8614657 rs747320660 |
714 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs747320660 CA399866864 |
714 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA399866829 rs1386782057 |
716 | Q>* | No |
gnomAD ClinGen |
|
|
rs778408571 CA8614656 |
716 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399866803 rs1465445263 |
717 | C>Y | No |
ClinGen gnomAD |
|
|
CA8614655 rs758940297 |
718 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA291075029 rs748854028 |
719 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779728849 CA8614653 |
719 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748854028 CA8614654 |
719 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8614652 rs371679665 |
720 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399866743 rs987545972 |
721 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA291075022 rs987545972 |
721 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1200408213 CA399866718 |
722 | E>D | No |
ClinGen gnomAD |
|
|
CA399866731 rs1353761059 |
722 | E>K | No |
TOPMed ClinGen |
|
|
rs1483840747 CA399866713 |
723 | A>T | No |
gnomAD ClinGen |
|
|
rs1258251215 CA399866700 |
723 | A>V | No |
ClinGen gnomAD |
|
|
rs750099267 CA399866694 |
724 | R>C | No |
ExAC TOPMed ClinGen |
|
|
rs1212472652 CA399866690 |
724 | R>H | No |
ClinGen gnomAD |
|
|
rs750099267 CA8614651 |
724 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA399866679 rs1296423975 CA399866682 |
725 | G>R | No |
gnomAD ClinGen |
|
|
CA8614633 rs779499425 |
727 | D>G | No |
ExAC gnomAD ClinGen |
|
|
rs1248275771 CA399865721 |
727 | D>H | No |
ClinGen TOPMed |
|
|
rs17630836 CA291074728 |
728 | I>M | No |
ClinGen gnomAD |
|
|
CA8614631 rs745359488 |
728 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs769446965 CA8614632 |
728 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs113604190 CA8614630 |
729 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113604190 CA291074726 |
729 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399865656 rs1265913677 |
732 | Y>C | No |
ClinGen gnomAD |
|
|
rs751421164 CA8614628 |
732 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs1323156100 CA399865646 |
733 | R>C | No |
gnomAD ClinGen |
|
|
CA399865579 rs1251058167 |
738 | L>R | No |
ClinGen TOPMed |
|
|
CA8614626 rs758150391 |
738 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs374182883 COSM980144 CA291074680 |
740 | T>I | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA399865563 rs1441666462 |
740 | T>P | No |
TOPMed ClinGen |
|
|
CA8614625 rs146454541 |
741 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8614623 rs759726287 |
742 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753830103 CA8614622 |
743 | K>E | No |
ExAC ClinGen |
|
|
CA8614621 rs766669825 |
745 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766669825 RCV001813048 CA399865500 |
745 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs760827805 CA8614620 COSM187960 |
745 | R>H | large_intestine [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs772565283 CA8614618 |
746 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8614619 rs144020235 |
746 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA291074641 rs144020235 |
746 | Y>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs762214702 CA8614617 |
747 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8614616 rs775059872 |
747 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1440618722 CA399865449 |
749 | D>G | No |
TOPMed ClinGen |
|
|
rs1206642345 CA399865424 |
750 | H>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA8614597 rs201653326 |
751 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA291074585 rs201648544 |
751 | D>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8614615 rs201648544 |
751 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399865355 rs1227868349 |
752 | E>D | No |
ClinGen gnomAD |
|
|
rs1402849960 CA399865367 |
752 | E>K | No |
ClinGen TOPMed |
|
|
CA399865349 rs1363116633 |
753 | R>C | No |
gnomAD ClinGen |
|
|
rs763394580 CA8614596 |
753 | R>H | No |
ClinGen ExAC |
|
|
rs776025983 CA8614595 |
759 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8614594 rs770352135 |
760 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs139134704 CA399865205 CA8614593 |
763 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291074395 rs771679925 |
764 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8614591 rs771679925 |
764 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8614589 rs778699469 |
765 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749182718 CA8614587 |
766 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8614588 rs749182718 |
766 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399865151 rs779980705 |
768 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779980705 CA8614586 |
768 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236905546 CA399865146 |
769 | G>R | No |
ClinGen gnomAD |
|
|
rs1426458605 CA399865042 |
777 | E>D | No |
gnomAD ClinGen |
|
|
CA8614581 rs751784318 |
779 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757533680 CA8614582 |
779 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356084965 CA399865018 |
780 | E>K | No |
ClinGen gnomAD |
|
|
CA399865004 rs1417109824 |
781 | P>T | No |
gnomAD ClinGen |
|
|
rs1356850737 CA399864990 |
782 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1356850737 CA399864989 |
782 | L>I | No |
TOPMed gnomAD ClinGen |
|
|
CA291074313 rs1024777404 |
783 | F>L | No |
Ensembl ClinGen |
|
|
CA291074308 rs1024777404 |
783 | F>V | No |
ClinGen Ensembl |
|
|
CA8614576 rs765768930 |
784 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA8614577 rs765768930 |
784 | P>T | No |
ClinGen ExAC TOPMed |
|
|
rs1016002510 CA291074259 |
786 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
CA8614575 rs760218340 |
787 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399864915 rs1403400458 |
788 | F>L | No |
ClinGen gnomAD |
|
|
CA8614574 rs146181441 |
789 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8614573 rs771520643 |
789 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs771520643 CA291074229 |
789 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8614572 rs3169693 |
791 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773985489 CA8614571 |
792 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8614570 rs768344977 |
793 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA399864847 rs1219563861 |
794 | A>D | No |
gnomAD ClinGen |
|
|
CA8614569 rs749099091 |
794 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219563861 CA399864843 |
794 | A>V | No |
gnomAD ClinGen |
|
|
rs1047860444 CA291074213 |
795 | I>N | No |
TOPMed gnomAD ClinGen |
|
|
rs970754070 CA399864769 |
796 | K>R | No |
ClinGen gnomAD |
|
|
CA291073959 rs970754070 |
796 | K>T | No |
ClinGen gnomAD |
|
|
CA399864750 rs1382552489 |
797 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399864748 rs1364065652 |
798 | Q>* | No |
TOPMed gnomAD ClinGen |
|
|
CA399864706 rs1597749532 |
801 | A>T | No |
Ensembl ClinGen |
|
|
CA8614546 rs747073880 |
802 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1175787798 CA399864683 |
803 | R>S | No |
ClinGen gnomAD |
|
|
rs200476306 CA8614545 |
805 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399864653 rs1372685791 |
805 | R>H | No |
ClinGen gnomAD |
|
|
CA399864618 rs1181718358 |
808 | R>C | No |
ClinGen gnomAD |
|
|
CA399864615 rs1485066038 |
808 | R>H | No |
gnomAD ClinGen |
|
|
CA399864602 rs1364983387 |
809 | D>G | No |
ClinGen TOPMed |
|
|
rs1257546718 CA399864610 |
809 | D>N | No |
gnomAD ClinGen |
|
|
rs779365839 CA8614541 |
812 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs779365839 CA399864563 |
812 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA399864555 rs1356214202 |
813 | S>L | No |
ClinGen gnomAD |
|
|
CA8614540 rs755264846 |
813 | S>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1356214202 CA399864557 |
813 | S>W | No |
gnomAD ClinGen |
|
|
rs754351650 CA291073911 |
816 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754351650 CA399864530 |
816 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8614539 rs754351650 |
816 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399864525 rs1168706113 |
816 | A>V | No |
ClinGen gnomAD |
|
|
rs1463856336 CA399864513 |
817 | P>L | No |
gnomAD ClinGen |
|
|
rs1025311730 CA291073906 |
818 | N>S | No |
TOPMed ClinGen |
|
|
CA291073903 rs1012192355 |
820 | D>N | No |
ClinGen gnomAD |
|
|
rs1345658749 CA399864464 |
821 | T>S | No |
gnomAD ClinGen |
|
|
rs1475843507 CA399864447 |
822 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1475843507 CA399864448 |
822 | L>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs1435566620 CA399864435 |
823 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8614537 rs751052810 |
823 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA399864413 rs1195964421 |
824 | M>I | No |
gnomAD ClinGen |
|
|
CA399864409 rs1481507976 |
825 | L>F | No |
ClinGen gnomAD |
|
|
rs1335440286 CA399864315 |
829 | L>F | No |
gnomAD ClinGen |
|
|
rs774967140 CA8614533 |
830 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291073858 rs1016390616 |
831 | R>G | No |
ClinGen TOPMed |
|
|
rs1026833402 CA291073853 |
831 | R>P | No |
Ensembl ClinGen |
|
|
CA399864181 rs1354021229 |
834 | E>A | No |
TOPMed ClinGen |
|
|
rs760697658 CA8614508 |
835 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399864154 rs1295909846 |
836 | G>D | No |
ClinGen gnomAD |
|
|
CA8614507 rs772956281 |
837 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs199828774 CA8614506 |
839 | N>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1373039191 CA399864086 |
841 | M>I | No |
ClinGen gnomAD |
|
|
CA8614505 rs748158908 |
843 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs1166000326 CA399864041 |
845 | S>G | No |
gnomAD ClinGen |
|
|
rs917956053 CA291073556 |
845 | S>R | No |
gnomAD ClinGen |
|
|
CA8614503 rs768832264 |
848 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA291073540 rs142471183 |
851 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1211645065 CA399863958 |
852 | P>S | No |
gnomAD ClinGen |
|
|
rs761038630 CA8614501 |
853 | T>M | No |
ExAC gnomAD ClinGen |
|
|
rs746391701 CA399863935 |
856 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8614499 rs746391701 |
856 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1413425692 CA399863925 |
857 | P>L | No |
gnomAD ClinGen |
|
|
rs1311789933 CA399863922 |
858 | E>K | No |
ClinGen gnomAD |
|
|
rs980284610 CA291073494 |
861 | E>D | No |
ClinGen TOPMed |
|
|
rs1414842081 CA399863886 |
861 | E>K | No |
ClinGen gnomAD |
|
|
rs1376968671 CA399863869 |
862 | T>A | No |
ClinGen gnomAD |
|
|
rs781494716 CA8614498 |
862 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA399863856 rs1419902706 |
863 | S>G | No |
gnomAD ClinGen |
|
|
rs961232463 CA291073486 |
864 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1474206434 CA399863821 |
865 | P>S | No |
gnomAD ClinGen |
|
|
CA8614497 rs752251957 |
866 | M>R | No |
ExAC gnomAD ClinGen |
|
|
CA8614496 rs752251957 |
866 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs368418833 CA291073483 |
866 | M>V | No |
ESP gnomAD ClinGen |
|
|
CA399863756 rs1486694840 |
867 | T>I | No |
gnomAD ClinGen |
|
|
rs765029125 CA8614495 |
868 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1438778535 CA399863659 |
871 | Q>H | No |
ClinGen gnomAD |
|
|
CA291073465 rs753590754 |
871 | Q>R | No |
ClinGen Ensembl |
|
|
rs1208623252 CA399863636 |
872 | N>T | No |
ClinGen gnomAD |
|
|
rs1275507758 CA399863616 |
873 | Q>* | No |
ClinGen gnomAD |
|
|
rs1275507758 CA399863618 |
873 | Q>E | No |
ClinGen gnomAD |
|
|
rs1231811162 CA399863605 |
873 | Q>L | No |
gnomAD ClinGen |
|
|
CA8614494 rs754698444 |
874 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA399863537 rs1262102985 |
876 | E>* | No |
TOPMed ClinGen |
|
|
rs1168154535 CA399863458 |
880 | Q>K | No |
ClinGen TOPMed |
|
|
CA291073434 rs1015277380 |
882 | C>R | No |
ClinGen Ensembl |
|
|
CA8614492 rs148792420 |
883 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8614490 rs547059220 |
884 | D>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs774394681 CA8614487 |
887 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs774394681 CA399863287 |
887 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA399863297 rs761989151 |
887 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs761989151 CA8614488 |
887 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA399863285 rs1405825746 |
888 | P>S | No |
ClinGen gnomAD |
|
|
rs1433391162 CA399863268 |
889 | H>P | No |
ClinGen TOPMed |
|
|
VAR_038551 CA8614486 rs117139057 |
889 | H>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
No associated diseases with Q6ZUM4
3 regional properties for Q6ZUM4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Clathrin adaptor, mu subunit, conserved site | 157 - 177 | IPR018240-1 |
| conserved_site | Clathrin adaptor, mu subunit, conserved site | 253 - 267 | IPR018240-2 |
| domain | Mu homology domain | 157 - 421 | IPR028565 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| receptor-mediated endocytosis | An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12979 | ABR | Active breakpoint cluster region-related protein | Homo sapiens (Human) | PR |
| Q8IWW6 | ARHGAP12 | Rho GTPase-activating protein 12 | Homo sapiens (Human) | PR |
| Q5SSL4 | Abr | Active breakpoint cluster region-related protein | Mus musculus (Mouse) | PR |
| A2AB59 | Arhgap27 | Rho GTPase-activating protein 27 | Mus musculus (Mouse) | PR |
| Q6TLK4 | Arhgap27 | Rho GTPase-activating protein 27 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAADVVGDVY | VLVEHPFEYT | GKDGRRVAIR | PNERYRLLRR | STEHWWHVRR | EPGGRPFYLP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQYVRELPAL | GNPAAAAPPG | PHPSPAAPEP | LAYDYRFVSA | AATAGPDGAP | EESGGRASSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CGPAQRGAAT | QRSSLAPGLP | ACLYLRPAAP | VRPAQSLNDL | ACAAVSPPAG | LLGSSGSFKA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CSVAGSWVCP | RPLARSDSEN | VYEVIQDLHV | PPPEESAEQV | DDPPEPVYAN | IERQPRATSP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GAAAAPLPSP | VWETHTDAGT | GRPYYYNPDT | GVTTWESPFE | AAEGAASPAT | SPASVDSHVS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LETEWGQYWD | EESRRVFFYN | PLTGETAWED | EAENEPEEEL | EMQPGLSPGS | PGDPRPPTPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TDYPESLTSY | PEEDYSPVGS | FGEPGPTSPL | TTPPGWSCHV | SQDKQMLYTN | HFTQEQWVRL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EDPHGKPYFY | NPEDSSVRWE | LPQVPVPAPR | SIHKSSQDGD | TPAQASPPEE | KVPAELDEVG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SWEEVSPATA | AVRTKTLDKA | GVLHRTKTAD | KGKRLRKKHW | SASWTVLEGG | VLTFFKDSKT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SAAGGLRQPS | KFSTPEYTVE | LRGATLSWAP | KDKSSRKNVL | ELRSRDGSEY | LIQHDSEAII |
| 610 | 620 | 630 | 640 | 650 | 660 |
| STWHKAIAQG | IQELSAELPP | EESESSRVDF | GSSERLGSWQ | EKEEDARPNA | AAPALGPVGL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ESDLSKVRHK | LRKFLQRRPT | LQSLREKGYI | KDQVFGCALA | ALCERERSRV | PRFVQQCIRA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VEARGLDIDG | LYRISGNLAT | IQKLRYKVDH | DERLDLDDGR | WEDVHVITGA | LKLFFRELPE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PLFPFSHFRQ | FIAAIKLQDQ | ARRSRCVRDL | VRSLPAPNHD | TLRMLFQHLC | RVIEHGEQNR |
| 850 | 860 | 870 | 880 | ||
| MSVQSVAIVF | GPTLLRPEVE | ETSMPMTMVF | QNQVVELILQ | QCADIFPPH |