Q9UPU3
PR
Gene name |
SORCS3 (KIAA1059) |
Protein name |
VPS10 domain-containing receptor SorCS3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22986 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9UPU3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UPU3-F1 | Predicted | AlphaFoldDB |
911 variants for Q9UPU3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1303020253 CA378216781 |
3 | A>T | No |
ClinGen gnomAD |
|
|
CA378216806 rs1417694980 |
7 | E>Q | No |
ClinGen Ensembl |
|
|
rs1393786564 CA378216820 |
9 | P>S | No |
ClinGen Ensembl |
|
|
RCV000894559 rs562822100 CA5683250 |
12 | R>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1407215679 CA378216840 |
12 | R>S | No |
ClinGen TOPMed |
|
|
rs562822100 CA212668997 |
12 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378216857 rs1191680466 |
13 | P>R | No |
ClinGen TOPMed |
|
|
rs1281342049 CA378216870 |
14 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs773411676 CA212669001 |
15 | A>S | No |
ClinGen Ensembl |
|
|
rs1250863365 CA378216886 |
15 | A>V | No |
ClinGen TOPMed |
|
|
CA5683251 rs759388666 |
18 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378216933 rs1459666843 |
19 | R>G | No |
ClinGen gnomAD |
|
|
rs1182639205 CA378216940 |
19 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1346179598 CA378217020 |
25 | L>F | No |
ClinGen TOPMed |
|
|
rs752962718 CA5683253 |
25 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA5683254 rs758640408 |
26 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA378217063 rs1197869477 |
28 | W>* | No |
ClinGen gnomAD |
|
|
rs1427896302 CA378217112 |
31 | A>V | No |
ClinGen gnomAD |
|
|
rs143668607 RCV000968663 CA5683256 |
32 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1365559779 CA378217155 |
34 | E>D | No |
ClinGen TOPMed |
|
|
rs1360566197 CA378217266 |
39 | A>S | No |
ClinGen gnomAD |
|
|
rs1360566197 CA378217268 |
39 | A>T | No |
ClinGen gnomAD |
|
|
rs898209268 CA212669058 |
42 | G>C | No |
ClinGen TOPMed |
|
|
CA378217332 rs1369677132 |
43 | P>L | No |
ClinGen gnomAD |
|
|
CA212669060 rs910479980 |
45 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1306039610 CA378217367 |
45 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757347409 CA5683257 |
46 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378217409 rs1184956286 |
47 | A>V | No |
ClinGen TOPMed |
|
|
CA212669080 rs1027963729 |
48 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1238062459 CA378217423 |
49 | P>A | No |
ClinGen TOPMed |
|
|
rs974141784 CA378217429 |
49 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs974141784 CA212669085 |
49 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs974141784 CA378217431 |
49 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378217455 rs1248897947 |
51 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378217462 rs1177196665 |
52 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378217458 rs1489103641 |
52 | R>W | No |
ClinGen gnomAD |
|
|
CA212669088 rs919915291 |
54 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1248851593 CA378217514 |
55 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1360664849 CA378217523 |
56 | L>S | No |
ClinGen TOPMed |
|
|
CA378217548 rs1160059723 |
59 | L>F | No |
ClinGen gnomAD |
|
|
CA378217556 rs1380548389 |
60 | S>P | No |
ClinGen gnomAD |
|
|
CA378217572 rs1423411770 |
61 | P>S | No |
ClinGen gnomAD |
|
|
rs1351487801 CA378217639 |
66 | S>G | No |
ClinGen gnomAD |
|
|
rs781615566 CA5683258 |
66 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1351487801 CA378217637 |
66 | S>R | No |
ClinGen gnomAD |
|
|
rs746348194 CA5683259 |
69 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378217698 rs1297580894 |
69 | P>T | No |
ClinGen gnomAD |
|
|
rs1448749912 CA378217770 |
73 | A>V | No |
ClinGen gnomAD |
|
|
CA212669089 rs930090317 |
74 | S>L | No |
ClinGen Ensembl |
|
|
CA378217774 rs1310212743 |
74 | S>T | No |
ClinGen gnomAD |
|
|
CA378217806 rs1374547296 |
76 | R>P | No |
ClinGen TOPMed |
|
|
rs1292102560 CA378217829 |
78 | A>D | No |
ClinGen gnomAD |
|
|
rs1243800206 CA378217820 |
78 | A>T | No |
ClinGen gnomAD |
|
|
rs776422713 CA212669095 |
80 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378217884 rs1250172533 |
82 | G>E | No |
ClinGen gnomAD |
|
|
rs1190236916 CA378217879 |
82 | G>R | No |
ClinGen TOPMed |
|
|
rs1179688683 CA378217890 |
83 | R>C | No |
ClinGen gnomAD |
|
|
CA378217900 rs1238337700 |
83 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378217904 rs896551212 |
84 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs979252992 CA212669108 |
86 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs979252992 CA378217949 |
86 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1306615154 CA378217995 |
88 | E>D | No |
ClinGen TOPMed |
|
|
CA378218105 rs1564648995 |
94 | G>D | No |
ClinGen Ensembl |
|
|
CA378218110 rs1352967860 |
95 | G>S | No |
ClinGen TOPMed |
|
|
rs1292633755 CA378218187 |
98 | G>S | No |
ClinGen TOPMed |
|
|
CA5683260 rs117144385 |
99 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378218225 rs1169599008 |
99 | G>V | No |
ClinGen gnomAD |
|
|
rs1466933912 CA378218275 |
101 | M>I | No |
ClinGen gnomAD |
|
|
CA378218270 rs1398066929 |
101 | M>T | No |
ClinGen gnomAD |
|
|
CA5683261 rs780591673 |
102 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA212669134 rs959446914 |
103 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA378218329 rs1450721430 |
104 | E>K | No |
ClinGen gnomAD |
|
|
CA212669138 rs1001520359 |
105 | A>G | No |
ClinGen gnomAD |
|
|
CA378218376 rs1001520359 |
105 | A>V | No |
ClinGen gnomAD |
|
|
CA5683262 rs749632903 |
106 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA378218410 rs1214082670 |
107 | G>R | No |
ClinGen gnomAD |
|
|
rs1294006599 CA378218420 |
107 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1199599108 CA378218429 |
108 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs917897008 CA212669143 |
109 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5683264 rs371709473 |
110 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA212669151 rs371709473 |
110 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866935751 CA378218452 |
110 | P>S | No |
ClinGen gnomAD |
|
|
CA212669148 rs866935751 |
110 | P>T | No |
ClinGen gnomAD |
|
|
rs1185437955 CA378218458 |
111 | A>T | No |
ClinGen gnomAD |
|
|
CA5683265 rs760156637 |
113 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421324820 CA378218492 |
113 | E>K | No |
ClinGen gnomAD |
|
|
rs1009340926 CA212669156 |
114 | R>P | No |
ClinGen Ensembl |
|
|
rs1030100676 CA212669159 |
115 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA378218533 rs1405048206 |
116 | G>C | No |
ClinGen gnomAD |
|
|
rs1037793997 CA212669160 |
116 | G>D | No |
ClinGen TOPMed |
|
|
CA378218542 rs1412590439 |
117 | R>Q | No |
ClinGen gnomAD |
|
|
CA378218558 rs1215137226 |
118 | G>D | No |
ClinGen TOPMed |
|
|
CA378218555 rs1273477991 |
118 | G>R | No |
ClinGen TOPMed |
|
|
rs1359996431 CA378218618 |
123 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378218626 rs1430021937 |
124 | K>E | No |
ClinGen gnomAD |
|
|
rs996578481 CA212669162 |
124 | K>N | No |
ClinGen TOPMed |
|
|
CA212669163 rs547954105 |
125 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
CA378218657 rs1296434680 |
126 | G>R | No |
ClinGen gnomAD |
|
|
CA378218674 rs1589443949 |
127 | G>V | No |
ClinGen Ensembl |
|
|
rs1321795308 CA378218702 |
129 | R>M | No |
ClinGen gnomAD |
|
|
CA5683266 rs770466925 |
130 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776587267 CA5683267 |
131 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378218754 rs1460009901 |
133 | R>L | No |
ClinGen TOPMed |
|
|
CA5683268 rs759445493 |
133 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1393848719 CA378218772 |
134 | A>V | No |
ClinGen TOPMed |
|
|
CA212669174 rs373150688 |
136 | P>S | No |
ClinGen gnomAD |
|
|
rs570820859 CA212669179 |
142 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs570820859 CA378218894 |
142 | R>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1412193871 CA378218900 |
143 | G>V | No |
ClinGen gnomAD |
|
|
CA5683269 rs765108964 |
144 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA378218941 CA5683270 rs752519033 |
146 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA378218990 rs1400325397 |
149 | A>T | No |
ClinGen gnomAD |
|
|
CA212669189 rs919962541 |
150 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA212669200 rs982718124 |
152 | D>V | No |
ClinGen Ensembl |
|
|
CA378219066 rs1303033929 |
153 | G>D | No |
ClinGen gnomAD |
|
|
CA5683271 rs762668594 |
153 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751801806 CA5683273 |
157 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1251985956 CA378219127 |
158 | R>C | No |
ClinGen TOPMed |
|
|
CA378219161 rs1283505583 |
159 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1283505583 CA378219160 |
159 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378219145 rs1222822749 |
159 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5683277 rs756722144 |
161 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378219186 rs1305281808 |
161 | A>V | No |
ClinGen TOPMed |
|
|
CA378219195 rs1216740741 |
162 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780644787 CA5683278 |
164 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA378219227 rs749687977 |
165 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA378219234 rs1200983287 |
165 | R>Q | No |
ClinGen gnomAD |
|
|
CA5683279 rs749687977 |
165 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA378219255 rs1157058779 |
168 | V>A | No |
ClinGen gnomAD |
|
|
CA378219256 rs1157058779 |
168 | V>G | No |
ClinGen gnomAD |
|
|
rs533368258 CA212669236 |
169 | K>Q | No |
ClinGen 1000Genomes |
|
|
rs372001150 CA5683281 |
170 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1420315238 CA378219274 |
171 | P>L | No |
ClinGen gnomAD |
|
|
CA378219277 rs1388743660 |
172 | R>Q | No |
ClinGen gnomAD |
|
|
CA378219291 rs1384043368 |
174 | G>V | No |
ClinGen TOPMed |
|
|
CA5683283 rs770392995 |
175 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5683282 rs375217719 |
175 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1589444068 CA918751904 |
176 | S>K | No |
ClinGen Ensembl |
|
|
rs1306574298 CA378219302 |
176 | S>L | No |
ClinGen gnomAD |
|
|
CA212669247 rs949431583 |
177 | A>G | No |
ClinGen TOPMed |
|
|
CA5683285 rs745340465 |
178 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264334940 CA378219363 |
180 | D>Y | No |
ClinGen gnomAD |
|
|
rs1045275893 CA212669252 |
181 | L>P | No |
ClinGen Ensembl |
|
|
rs775348931 CA5683287 |
182 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs775348931 CA378219407 COSM129357 |
182 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5683286 rs769726021 |
182 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs762722988 CA5683288 |
184 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs763918709 CA5683289 |
185 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA378219480 rs1240199028 |
187 | S>T | No |
ClinGen gnomAD |
|
|
CA378219531 rs1183294186 |
189 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378219533 rs1183294186 |
189 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs535807911 CA5683293 |
190 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378219591 rs1164298113 |
191 | T>N | No |
ClinGen gnomAD |
|
|
rs767055535 CA378219617 |
192 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs767055535 CA5683295 |
192 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs755334735 CA5683297 |
194 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1311619250 CA378219696 |
195 | A>T | No |
ClinGen gnomAD |
|
|
CA378219736 rs1338167599 |
196 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769838320 CA212669298 |
198 | Q>R | No |
ClinGen Ensembl |
|
|
rs779310979 CA212669308 |
200 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779310979 CA5683298 |
200 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756963347 CA5683300 |
202 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683299 rs748410168 |
202 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683303 rs769279931 |
203 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683302 rs773315690 |
203 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA5683301 rs780754990 |
203 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1254366245 CA378219949 |
204 | S>* | No |
ClinGen gnomAD |
|
|
rs749227294 CA5683305 |
207 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5683306 rs768430535 |
209 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378243620 rs1408037217 |
212 | L>R | No |
ClinGen gnomAD |
|
|
rs756883183 CA5683348 |
212 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs267602355 COSM1321552 CA5683349 |
213 | I>M | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1422782422 CA378243625 |
213 | I>T | No |
ClinGen gnomAD |
|
|
rs759718600 CA5683351 |
215 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769758204 CA5683352 |
215 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378243635 rs769758204 |
215 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212795319 rs533516141 |
216 | K>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA378243640 rs533516141 |
216 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs776105620 CA5683353 |
218 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs913662542 CA212795338 |
221 | N>D | No |
ClinGen TOPMed |
|
|
CA378243685 rs1310324008 |
223 | G>C | No |
ClinGen gnomAD |
|
|
rs945088378 CA212795347 |
224 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5683355 rs763474737 |
224 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683356 rs200604332 |
225 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1589520593 CA378243710 |
227 | E>G | No |
ClinGen Ensembl |
|
|
CA378243717 rs1218629335 |
228 | S>N | No |
ClinGen gnomAD |
|
|
CA378243739 rs866310666 |
231 | W>* | No |
ClinGen TOPMed |
|
|
rs866310666 CA212795419 |
231 | W>C | No |
ClinGen TOPMed |
|
|
rs1459403419 CA378243734 |
231 | W>R | No |
ClinGen gnomAD |
|
|
CA5683359 rs753425430 |
232 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378244399 rs1165045538 |
232 | R>S | No |
ClinGen TOPMed |
|
|
COSM1321551 rs1409279522 CA378244405 |
233 | S>L | ovary skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs957728037 CA212836747 |
234 | T>A | No |
ClinGen Ensembl |
|
|
CA378244418 rs1358163767 |
235 | D>E | No |
ClinGen gnomAD |
|
|
CA378244411 rs1410959554 |
235 | D>N | No |
ClinGen TOPMed |
|
|
CA5683380 rs764907169 |
237 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5683382 rs757926034 |
240 | Y>C | No |
ClinGen ExAC |
|
|
rs896865024 CA212836761 |
242 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5683384 rs751540331 |
243 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757116830 CA5683385 |
245 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5683386 rs780827525 |
247 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197078482 CA378244520 |
251 | T>A | No |
ClinGen TOPMed |
|
|
rs773396740 CA5683389 |
261 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212836783 rs773396740 |
261 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320042785 CA378244595 |
262 | N>S | No |
ClinGen TOPMed |
|
|
rs748223214 CA5683413 |
266 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA378245863 rs748223214 |
266 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA378245874 rs1307567295 |
267 | M>I | No |
ClinGen TOPMed |
|
|
CA212880510 rs1032877024 |
267 | M>V | No |
ClinGen Ensembl |
|
|
CA5683414 rs140268797 |
270 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1010006981 CA212880519 |
270 | S>N | No |
ClinGen TOPMed |
|
|
CA378245897 rs1449618197 |
271 | D>Y | No |
ClinGen gnomAD |
|
|
CA378245922 rs1453700079 |
274 | M>T | No |
ClinGen gnomAD |
|
|
CA212880530 rs892233506 |
276 | S>N | No |
ClinGen TOPMed |
|
|
CA378245955 rs1177079807 |
278 | I>M | No |
ClinGen gnomAD |
|
|
CA378245951 rs1433662866 |
278 | I>V | No |
ClinGen TOPMed |
|
|
rs1470566438 CA378245958 |
279 | L>S | No |
ClinGen gnomAD |
|
|
CA378245971 rs1159296887 |
281 | S>G | No |
ClinGen TOPMed |
|
|
CA378245982 rs1163143879 |
282 | S>L | No |
ClinGen gnomAD |
|
|
CA5683418 rs370294087 |
283 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762674027 CA5683419 |
284 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs139171852 CA212880602 COSM330732 |
286 | A>E | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1227144 rs774002522 CA5683421 |
286 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5683422 rs139171852 |
286 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212880614 rs1002411518 |
287 | T>S | No |
ClinGen TOPMed |
|
|
rs750367392 CA5683425 |
288 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683424 rs750367392 |
288 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374516689 CA5683426 |
289 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5683428 rs201042569 |
292 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368760343 CA5683427 COSM1702999 |
292 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA378246044 rs1235123117 |
293 | L>F | No |
ClinGen gnomAD |
|
|
rs202095619 CA212880643 |
295 | F>L | No |
ClinGen Ensembl |
|
|
rs1356146944 CA378246077 |
297 | I>M | No |
ClinGen TOPMed |
|
|
rs1457191902 CA378246080 |
298 | Q>* | No |
ClinGen gnomAD |
|
|
CA212880645 rs963504040 |
302 | F>L | No |
ClinGen Ensembl |
|
|
CA378246123 rs1240294051 |
304 | P>L | No |
ClinGen gnomAD |
|
|
rs1240294051 CA378246124 |
304 | P>R | No |
ClinGen gnomAD |
|
|
rs1284198441 CA378246138 |
306 | Q>R | No |
ClinGen TOPMed |
|
|
CA5683432 rs778211794 |
308 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA212880662 rs780166617 |
308 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs929050187 CA212880675 |
310 | V>L | No |
ClinGen Ensembl |
|
|
rs929050187 CA378246166 |
310 | V>M | No |
ClinGen Ensembl |
|
|
CA212880677 rs992930895 |
311 | L>V | No |
ClinGen gnomAD |
|
|
CA5683434 rs553069289 |
312 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553069289 CA212880697 |
312 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781707045 CA5683435 |
312 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs182003429 CA378246186 |
314 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5683436 rs182003429 |
314 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5683437 rs768435706 |
315 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774038387 CA5683438 |
317 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA378246218 rs1589575978 |
318 | K>M | No |
ClinGen Ensembl |
|
|
rs1338258879 CA378246220 |
318 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5683453 rs757870826 |
320 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA378246273 rs1326842434 |
323 | M>I | No |
ClinGen gnomAD |
|
|
CA213331468 rs1040212441 |
323 | M>T | No |
ClinGen TOPMed |
|
|
CA5683454 rs145778074 |
323 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749901604 CA213331486 |
324 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM2060557 CA5683457 rs140617490 |
328 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1564741136 CA378246305 |
328 | R>W | No |
ClinGen Ensembl |
|
|
CA5683459 rs530360859 |
331 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378246325 rs530360859 |
331 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5683458 rs530360859 |
331 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA213331531 rs759221025 |
332 | M>T | No |
ClinGen Ensembl |
|
|
CA5683461 rs746453484 |
332 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5683462 rs374336509 |
333 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA213331532 rs953176098 |
333 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752220438 CA5683463 |
335 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145675254 CA5683464 |
335 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378246358 rs1317921676 |
336 | I>T | No |
ClinGen TOPMed |
|
|
CA213331552 rs1004876423 |
338 | P>S | No |
ClinGen gnomAD |
|
|
rs775625967 CA5683466 |
339 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA378246425 rs1374698831 |
343 | W>* | No |
ClinGen gnomAD |
|
|
COSM1703001 rs267602357 CA5683488 |
344 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA378246442 rs1321628534 |
346 | A>V | No |
ClinGen gnomAD |
|
|
rs1589627116 CA378246445 |
347 | G>E | No |
ClinGen Ensembl |
|
|
CA5683491 rs530482370 |
347 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378246449 rs754246009 |
348 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5683493 rs550554404 |
352 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378246491 rs1237218761 |
353 | D>E | No |
ClinGen gnomAD |
|
|
CA5683496 rs371799571 |
355 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5683497 rs780705622 |
357 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745342619 CA378246527 |
359 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs745342619 CA5683498 |
359 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs779842197 CA5683500 |
360 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3934917 rs779842197 CA5683501 |
360 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs141177706 CA5683499 |
360 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774761584 CA5683503 |
362 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM200551 CA5683504 rs185457886 |
362 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5683505 rs772377483 |
364 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5683516 rs143416276 COSM914584 |
366 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA378131335 rs1358595280 |
367 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1358595280 CA378131336 |
367 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA378131365 rs1564755057 |
368 | Y>* | No |
ClinGen Ensembl |
|
|
rs201348692 CA5683517 |
370 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378131414 rs1403059749 |
372 | R>G | No |
ClinGen gnomAD |
|
|
rs778879126 CA5683520 |
377 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM914586 CA5683523 rs773559316 |
378 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1215938641 CA378131533 |
380 | T>A | No |
ClinGen gnomAD |
|
|
CA5683524 rs373550824 |
381 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA213124680 COSM107791 rs138506167 |
384 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1485955556 CA378131611 |
386 | A>S | No |
ClinGen gnomAD |
|
|
rs533551572 CA5683527 |
386 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765694401 CA5683528 |
387 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378131622 rs1476280805 |
387 | R>H | No |
ClinGen gnomAD |
|
|
CA378131643 rs1187288446 |
389 | I>V | No |
ClinGen gnomAD |
|
|
rs1424726368 CA378131670 |
391 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA378131668 rs1424726368 |
391 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs866829069 CA213124682 |
393 | S>F | No |
ClinGen Ensembl |
|
|
rs763246892 CA5683530 |
397 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767222757 CA5683531 |
399 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683532 rs750012596 |
400 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1048444381 CA213124683 |
401 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1268119288 CA378131822 |
401 | I>M | No |
ClinGen TOPMed |
|
|
rs1049698060 CA378131868 |
404 | Q>H | No |
ClinGen TOPMed |
|
|
rs1317020011 CA378132645 |
405 | V>I | No |
ClinGen Ensembl |
|
|
CA5683552 rs562609185 |
407 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754518870 CA5683553 |
408 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA378132670 rs1234740080 |
409 | G>E | No |
ClinGen gnomAD |
|
|
rs765335559 CA5683554 |
410 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163237794 CA378132684 |
411 | A>V | No |
ClinGen gnomAD |
|
|
CA5683555 rs752652710 |
412 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758322381 CA5683556 |
414 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746780027 CA378132708 |
415 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746780027 CA5683558 |
415 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371068614 CA378132726 |
418 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5683559 rs371068614 |
418 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA213135062 COSM914589 rs868423005 |
418 | R>Q | endometrium breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768334100 CA213135070 |
420 | E>D | No |
ClinGen Ensembl |
|
|
CA378132747 rs781420131 |
421 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781420131 CA5683560 |
421 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1442846072 CA378132767 |
424 | Q>R | No |
ClinGen TOPMed |
|
|
CA5683562 rs769832302 |
429 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs780585366 CA5683563 |
431 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1286910201 CA378133624 |
436 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1212281812 CA378133615 |
436 | M>L | No |
ClinGen gnomAD |
|
|
CA378133627 rs756278463 |
437 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683580 rs756278463 |
437 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190533332 CA378133660 |
439 | I>T | No |
ClinGen gnomAD |
|
|
CA378133652 rs1427134814 |
439 | I>V | No |
ClinGen gnomAD |
|
|
CA378133672 rs1359912018 |
440 | S>N | No |
ClinGen Ensembl |
|
|
CA378133689 rs1475423938 |
441 | T>I | No |
ClinGen gnomAD |
|
|
CA5683584 rs779457171 |
443 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5683583 rs752889297 |
443 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748524827 CA5683586 |
444 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA378133741 rs1380312042 |
445 | Q>* | No |
ClinGen gnomAD |
|
|
CA378133802 rs759288838 |
449 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5683588 rs759288838 |
449 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA378133897 rs1357439311 |
456 | N>D | No |
ClinGen gnomAD |
|
|
CA378133911 rs791125 |
456 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12218795 CA213141923 |
457 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5683592 rs373949251 |
458 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5683595 rs557633462 |
462 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557633462 CA5683594 |
462 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767364828 CA5683596 |
463 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683599 rs759124837 |
466 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378133999 rs1281168570 |
466 | T>P | No |
ClinGen TOPMed |
|
|
CA5683601 rs753972777 COSM172992 |
467 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs147155519 CA5683602 |
467 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5683603 COSM537049 rs147155519 |
467 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA378134007 rs1385449785 |
468 | G>R | No |
ClinGen gnomAD |
|
|
rs1564766748 CA378134047 |
474 | A>T | No |
ClinGen Ensembl |
|
|
rs748670521 CA5683604 |
475 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA378134057 rs1359194239 |
475 | M>T | No |
ClinGen TOPMed |
|
|
rs1441740347 CA378134065 |
476 | E>G | No |
ClinGen gnomAD |
|
|
rs941384589 CA213141997 |
479 | K>* | No |
ClinGen Ensembl |
|
|
rs1589655433 CA378134088 |
479 | K>N | No |
ClinGen Ensembl |
|
|
COSM1266465 rs140336838 CA213142004 |
479 | K>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
rs913055357 CA213142013 |
480 | S>N | No |
ClinGen TOPMed |
|
|
CA378134095 rs1306847941 |
480 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs186426220 CA5683605 |
482 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5683606 rs778318739 |
483 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA213142024 rs1023885242 |
485 | M>I | No |
ClinGen gnomAD |
|
|
rs369790282 CA5683607 |
485 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464136483 CA378134122 |
485 | M>V | No |
ClinGen gnomAD |
|
|
rs372314833 CA213142027 |
487 | N>S | No |
ClinGen ESP |
|
|
CA213142046 rs1042976962 |
488 | I>V | No |
ClinGen TOPMed |
|
|
rs1249330393 CA378134152 |
489 | I>T | No |
ClinGen gnomAD |
|
|
rs1469373394 CA378134155 |
490 | I>V | No |
ClinGen gnomAD |
|
|
rs768182904 CA5683611 |
492 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1417201678 CA378134179 |
493 | Y>C | No |
ClinGen gnomAD |
|
|
CA378134177 rs1430566035 |
493 | Y>H | No |
ClinGen TOPMed |
|
|
rs773916242 CA5683632 |
495 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1352793807 CA378134741 |
496 | A>S | No |
ClinGen gnomAD |
|
|
CA378134750 rs1227325365 |
497 | G>D | No |
ClinGen Ensembl |
|
|
rs142696199 CA5683634 |
498 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142696199 CA5683635 |
498 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378134756 rs760500476 |
499 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5683637 rs766136452 |
499 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs760500476 CA5683636 |
499 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378134759 rs1301002804 |
499 | K>R | No |
ClinGen TOPMed |
|
|
CA213150668 rs113870624 |
500 | G>E | No |
ClinGen Ensembl |
|
|
CA378134768 rs1217640562 |
501 | I>V | No |
ClinGen TOPMed |
|
|
CA5683638 rs776243772 |
504 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs759836558 CA5683639 |
506 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs566782003 CA5683640 |
506 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5683641 CA378134812 rs752839468 |
507 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs758395289 CA5683642 |
509 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs62620040 CA378134826 |
510 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs62620040 CA5683644 RCV000881482 |
510 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1196520233 CA378134840 |
511 | Q>H | No |
ClinGen Ensembl |
|
|
rs1341734866 CA378134837 |
511 | Q>R | No |
ClinGen Ensembl |
|
|
rs1298051849 CA378134866 |
515 | Y>C | No |
ClinGen TOPMed |
|
|
rs1186077156 CA378134874 |
516 | I>M | No |
ClinGen gnomAD |
|
|
CA5683646 rs781713032 |
516 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA378134877 rs1435897237 |
517 | T>S | No |
ClinGen TOPMed |
|
|
CA5683647 rs191629355 |
519 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754672237 CA5683648 COSM3382664 |
525 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5683649 rs377560118 |
525 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747756589 CA378134940 |
526 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747756589 CA5683650 |
526 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683653 rs746968190 |
528 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1187747494 CA378134953 |
528 | Q>H | No |
ClinGen TOPMed |
|
|
rs770817576 CA5683654 |
529 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA213150781 rs989139495 |
530 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5683658 rs775572607 |
532 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA378134992 rs1486626651 |
535 | R>K | No |
ClinGen TOPMed |
|
|
CA378135000 rs1297661865 |
536 | G>E | No |
ClinGen gnomAD |
|
|
CA5683659 rs554788934 |
538 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554788934 CA5683660 |
538 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5683661 rs568629109 |
539 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5683662 rs568629109 |
539 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5683664 rs750858126 |
540 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683663 rs768078150 |
540 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA213150828 rs928150180 |
543 | L>Q | No |
ClinGen TOPMed |
|
|
rs1349492045 CA378135061 |
545 | F>L | No |
ClinGen TOPMed |
|
|
CA378135082 rs1247433177 |
547 | S>C | No |
ClinGen gnomAD |
|
|
CA5683681 rs768135949 |
549 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1176039734 CA378135103 |
549 | H>Q | No |
ClinGen gnomAD |
|
|
rs1458126825 CA378135140 |
553 | Q>K | No |
ClinGen gnomAD |
|
|
CA5683684 rs766673229 |
553 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA213152358 rs934651023 |
555 | S>C | No |
ClinGen Ensembl |
|
|
rs1234974020 CA378135534 |
559 | Y>C | No |
ClinGen TOPMed |
|
|
rs751132225 CA5683688 |
562 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs267602358 CA213152391 |
565 | S>P | No |
ClinGen Ensembl |
|
|
CA378135589 rs1554882461 |
567 | K>N | No |
ClinGen Ensembl |
|
|
CA213152395 rs868756728 |
568 | E>K | No |
ClinGen gnomAD |
|
|
rs1282124453 CA378135614 |
571 | P>L | No |
ClinGen TOPMed |
|
|
rs865875924 CA213152416 |
572 | G>R | No |
ClinGen Ensembl |
|
|
rs1400498590 CA378135628 |
574 | V>L | No |
ClinGen TOPMed |
|
|
rs1400498590 CA378135626 |
574 | V>M | No |
ClinGen TOPMed |
|
|
rs745771946 CA5683691 |
577 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA378136251 rs751183145 |
580 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683707 rs756842481 |
580 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5683706 rs751183145 |
580 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378136279 rs1338755571 |
581 | G>D | No |
ClinGen gnomAD |
|
|
rs530092103 CA5683708 |
582 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA213157364 rs374687821 |
584 | L>H | No |
ClinGen ESP |
|
|
rs1206084325 CA378136341 |
584 | L>V | No |
ClinGen TOPMed |
|
|
CA5683710 rs756017814 |
586 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683713 rs749161840 |
587 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5683714 rs779322629 |
587 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749161840 CA5683712 |
587 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1474912487 CA378136420 |
589 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378136424 rs1474912487 |
589 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772294355 CA378136428 |
590 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA5683716 rs772294355 |
590 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA378136511 rs1391525924 |
595 | S>F | No |
ClinGen gnomAD |
|
|
CA213157439 rs1010538255 |
595 | S>T | No |
ClinGen TOPMed |
|
|
CA5683718 rs142652556 COSM221765 |
596 | D>N | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs142652556 CA378136518 |
596 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA213157447 rs1043288779 |
597 | G>A | No |
ClinGen TOPMed |
|
|
rs771402627 CA5683719 |
599 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA378136578 rs1443701718 |
600 | T>K | No |
ClinGen gnomAD |
|
|
rs765565245 CA5683722 |
602 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA378130438 rs771686495 |
604 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs909952171 CA213129246 |
604 | I>V | No |
ClinGen TOPMed |
|
|
CA5683747 rs772886454 |
606 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA378130476 rs1161570327 |
607 | E>A | No |
ClinGen gnomAD |
|
|
CA378130504 rs1389638667 |
608 | E>G | No |
ClinGen gnomAD |
|
|
rs1417845167 CA378130516 |
609 | Y>H | No |
ClinGen TOPMed |
|
|
CA378130556 rs1461184111 |
610 | N>S | No |
ClinGen gnomAD |
|
|
rs150989181 CA5683748 |
611 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378130576 rs150989181 |
611 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369883352 CA378130603 |
612 | W>* | No |
ClinGen gnomAD |
|
|
rs918019847 CA213129269 |
613 | F>V | No |
ClinGen gnomAD |
|
|
CA378130729 CA5683750 rs753357253 |
616 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1176572888 CA378130736 |
617 | G>C | No |
ClinGen TOPMed |
|
|
CA5683751 rs759550200 |
617 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA378130788 rs1434644467 |
619 | A>D | No |
ClinGen TOPMed |
|
|
CA378130779 rs752493779 |
619 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752493779 CA5683753 |
619 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758209198 CA5683754 |
620 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA213129272 rs1037535355 |
620 | L>H | No |
ClinGen TOPMed |
|
|
CA5683756 rs751783356 |
621 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378130854 rs1210285939 |
622 | A>V | No |
ClinGen gnomAD |
|
|
CA378130919 rs1564773199 |
625 | H>L | No |
ClinGen Ensembl |
|
|
CA5683758 rs547265748 |
627 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378131091 rs547265748 |
627 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378131177 rs1485207152 |
629 | P>R | No |
ClinGen TOPMed |
|
|
rs148885511 CA378131222 |
631 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5683760 rs770341269 |
632 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474991676 CA378131318 |
634 | W>L | No |
ClinGen gnomAD |
|
|
CA5683774 rs763975842 |
636 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5683776 rs757477438 |
641 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1380881824 CA378132437 |
642 | S>C | No |
ClinGen gnomAD |
|
|
rs919475992 CA213138611 |
643 | W>R | No |
ClinGen TOPMed |
|
|
rs369104603 CA5683777 |
645 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5683779 rs756151908 |
647 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1230472277 CA378132485 |
649 | T>A | No |
ClinGen gnomAD |
|
|
rs780471641 CA5683780 COSM1703006 |
650 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA213138618 rs868293553 |
652 | P>S | No |
ClinGen Ensembl |
|
|
rs1029263966 CA213138642 |
654 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA213138651 rs375044945 |
657 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1450887181 CA378132543 |
659 | L>M | No |
ClinGen gnomAD |
|
|
rs1425341153 CA378132549 |
660 | V>L | No |
ClinGen TOPMed |
|
|
rs1186165746 CA378132578 |
664 | M>T | No |
ClinGen gnomAD |
|
|
CA378132575 rs1352182250 |
664 | M>V | No |
ClinGen TOPMed |
|
|
CA378132594 rs1246218951 |
666 | T>N | No |
ClinGen gnomAD |
|
|
CA378132599 rs1169718147 |
667 | H>Y | No |
ClinGen gnomAD |
|
|
rs1413331392 CA378132605 |
668 | I>L | No |
ClinGen gnomAD |
|
|
rs1448239555 CA378132617 |
669 | M>I | No |
ClinGen gnomAD |
|
|
rs550632342 CA5683786 |
669 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA213138694 rs1006565443 |
670 | T>A | No |
ClinGen Ensembl |
|
|
CA5683787 rs745413384 |
670 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA378132873 rs1449971218 |
674 | H>Y | No |
ClinGen gnomAD |
|
|
CA378132904 rs1448976588 |
678 | R>C | No |
ClinGen TOPMed |
|
|
COSM914595 rs146574756 CA5683813 |
678 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA378132905 rs146574756 |
678 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5683814 rs146574756 |
678 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA213157760 rs967471211 |
679 | S>P | No |
ClinGen TOPMed |
|
|
CA213157764 rs1030806250 |
680 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs760891017 CA5683816 |
681 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1159481169 CA378132930 |
682 | Q>L | No |
ClinGen gnomAD |
|
|
CA5683818 rs754006619 |
684 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1325016018 CA378132972 |
688 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378132988 rs1350391240 |
690 | S>C | No |
ClinGen gnomAD |
|
|
CA5683820 rs765815745 |
691 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683819 rs759528902 |
691 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683821 rs753235082 |
693 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683824 COSM914596 rs751910484 |
694 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1126888 CA5683823 rs202188584 |
694 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779561792 CA5683826 |
695 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779561792 CA378133017 |
695 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748867054 CA378133032 |
697 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683827 rs748867054 |
697 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437730267 CA378133034 |
698 | K>E | No |
ClinGen gnomAD |
|
|
rs768026008 CA5683828 |
700 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA378133057 rs1437040160 |
701 | Y>H | No |
ClinGen TOPMed |
|
|
rs559452374 CA5683830 |
703 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378133086 rs1367515550 |
705 | H>N | No |
ClinGen gnomAD |
|
|
rs201821935 CA5683832 |
707 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378133103 rs1301064983 |
707 | L>R | No |
ClinGen TOPMed |
|
|
rs868116997 CA213157871 |
709 | Q>* | No |
ClinGen Ensembl |
|
|
CA5683845 rs754615160 |
710 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs758387855 CA5683848 |
711 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683849 rs139722365 |
712 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5683850 rs139722365 |
712 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139722365 CA378133142 |
712 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378133152 rs1299995969 |
713 | C>* | No |
ClinGen gnomAD |
|
|
rs1564783416 CA378133179 |
717 | E>G | No |
ClinGen Ensembl |
|
|
rs776440027 CA5683852 |
718 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1254581239 CA378133198 |
720 | I>V | No |
ClinGen gnomAD |
|
|
rs1347617300 CA378133212 |
722 | K>Q | No |
ClinGen gnomAD |
|
|
CA378133216 rs1201752383 |
722 | K>R | No |
ClinGen gnomAD |
|
|
rs746107307 CA5683853 |
724 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM218261 CA5683854 rs770075122 |
724 | R>H | pancreas central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs959115680 CA213158941 |
725 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1249394489 CA378133237 |
725 | K>R | No |
ClinGen gnomAD |
|
|
CA378133250 rs1198107824 |
727 | G>E | No |
ClinGen gnomAD |
|
|
CA378133255 rs763115719 |
728 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5683856 rs763115719 |
728 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1478891925 CA378133272 |
731 | A>T | No |
ClinGen gnomAD |
|
|
CA5683859 rs762329919 |
733 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA378133283 rs1455878496 |
733 | G>S | No |
ClinGen gnomAD |
|
|
rs1386638840 CA378133289 |
734 | R>* | No |
ClinGen gnomAD |
|
|
CA5683861 COSM683412 rs750729533 |
734 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs145883987 COSM537039 CA5683862 |
736 | H>N | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA378133304 rs1288161732 |
736 | H>P | No |
ClinGen gnomAD |
|
|
CA378133329 rs1485909252 |
740 | V>A | No |
ClinGen gnomAD |
|
|
rs1269413417 CA378133325 |
740 | V>M | No |
ClinGen gnomAD |
|
|
rs1309983029 CA378133331 |
741 | V>I | No |
ClinGen gnomAD |
|
|
rs1209119693 CA378133381 |
748 | A>T | No |
ClinGen gnomAD |
|
|
rs202034563 CA5683866 |
749 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202034563 CA5683867 |
749 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA213158977 rs990179075 |
751 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378133421 rs1223927394 |
753 | E>D | No |
ClinGen TOPMed |
|
|
rs866505647 COSM1703007 CA213158987 |
753 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5683886 rs763545957 |
756 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA213167191 rs147548494 |
761 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5683888 rs147548494 |
761 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781179956 CA5683889 |
763 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs750257173 CA5683890 |
765 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378134570 COSM1744444 rs1309889618 |
771 | W>* | biliary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs780475509 CA5683892 |
773 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA213167259 COSM537035 rs1002406584 |
775 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5683894 rs768928041 |
775 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA378134630 rs1206992211 |
780 | D>G | No |
ClinGen gnomAD |
|
|
rs1407463397 CA378134627 |
780 | D>N | No |
ClinGen TOPMed |
|
|
rs773736231 CA5683898 |
788 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA378134693 rs1377372915 |
789 | N>H | No |
ClinGen TOPMed |
|
|
rs1188427763 CA378134706 |
790 | S>N | No |
ClinGen gnomAD |
|
|
CA378134714 rs1170745047 |
791 | T>N | No |
ClinGen TOPMed |
|
|
CA378135108 rs1213096328 |
793 | Y>H | No |
ClinGen TOPMed |
|
|
CA5683920 COSM3719066 rs768264793 |
794 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1366580746 COSM1675540 CA378135119 |
794 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201158982 CA5683923 |
795 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5683922 rs774027756 |
795 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs200098588 CA5683925 |
800 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5683924 rs749882577 |
800 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA378135207 rs1564786566 |
801 | C>Y | No |
ClinGen Ensembl |
|
|
CA378135237 rs1466334353 |
804 | G>E | No |
ClinGen gnomAD |
|
|
CA5683926 rs138480176 |
807 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378135259 rs1228738908 |
808 | K>Q | No |
ClinGen TOPMed |
|
|
rs1309653278 CA378135261 |
808 | K>R | No |
ClinGen TOPMed |
|
|
rs1193280759 CA378135267 |
809 | Y>H | No |
ClinGen gnomAD |
|
|
CA5683929 rs765425190 |
810 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683931 rs758509763 COSM3952794 |
811 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA378135284 rs1400827564 |
812 | K>E | No |
ClinGen TOPMed |
|
|
rs777836237 CA5683932 |
813 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM315509 COSM326542 rs1013148526 CA378135302 |
814 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5683933 rs747033515 |
814 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1434295489 CA378135309 |
815 | M>I | No |
ClinGen gnomAD |
|
|
CA213170366 rs760140824 |
818 | G>E | No |
ClinGen TOPMed |
|
|
rs1345921744 CA378135340 |
820 | A>S | No |
ClinGen gnomAD |
|
|
CA5683935 rs200349923 |
822 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757819379 CA5683934 |
822 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400929433 CA378135357 |
823 | G>A | No |
ClinGen gnomAD |
|
|
CA5683936 rs746273764 |
823 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs770176815 CA5683937 |
825 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775672790 CA5683938 |
826 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA378135381 rs1418867701 |
827 | V>G | No |
ClinGen TOPMed |
|
|
CA378135377 rs1269965610 |
827 | V>M | No |
ClinGen gnomAD |
|
|
CA378135386 rs201415126 |
828 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM175912 CA5683939 rs201415126 |
828 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs771562176 CA5683940 |
829 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA213170445 rs1049219004 |
829 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1049219004 CA378135390 |
829 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs765469437 CA213170466 |
830 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM3728324 rs202092284 CA5683944 |
832 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5683943 rs766458554 COSM1675541 |
832 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5683947 rs537144933 |
834 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443275541 CA378135421 |
835 | A>G | No |
ClinGen gnomAD |
|
|
rs1337750998 CA378135420 |
835 | A>T | No |
ClinGen gnomAD |
|
|
rs1443275541 CA378135422 |
835 | A>V | No |
ClinGen gnomAD |
|
|
rs1255469917 CA378135429 |
836 | E>A | No |
ClinGen gnomAD |
|
|
CA378135424 rs1335826355 |
836 | E>K | No |
ClinGen TOPMed |
|
|
rs751706856 CA5683950 |
840 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769722424 CA213170550 |
841 | A>T | No |
ClinGen gnomAD |
|
|
rs1441234788 CA378135469 |
842 | T>N | No |
ClinGen Ensembl |
|
|
CA213170553 rs773530859 |
844 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378135668 rs1248020226 |
850 | G>D | No |
ClinGen TOPMed |
|
|
CA5683971 rs756698911 |
851 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5683973 rs754266141 |
852 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs562319648 CA5683972 |
852 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378135681 rs1314193712 |
853 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378135696 rs1243283259 |
855 | T>P | No |
ClinGen gnomAD |
|
|
CA378135711 rs1368579170 |
857 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755370138 CA5683974 |
858 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779369540 CA5683975 |
859 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1171831402 CA378135774 |
866 | A>S | No |
ClinGen gnomAD |
|
|
CA378135783 rs1471114988 |
867 | V>A | No |
ClinGen gnomAD |
|
|
CA378135791 rs1337410473 |
869 | Y>H | No |
ClinGen gnomAD |
|
|
rs367942325 CA378135799 |
870 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM268093 rs367942325 CA5683979 |
870 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs868718609 CA378135818 |
872 | F>L | No |
ClinGen gnomAD |
|
|
rs762857852 CA5683982 |
876 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378135840 rs762857852 |
876 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263144474 CA378135852 |
877 | D>G | No |
ClinGen gnomAD |
|
|
rs1224979773 CA378135847 |
877 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378135857 rs1263733067 |
878 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs774096241 CA5683984 |
878 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375407867 CA378135881 |
881 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750578873 CA5683987 |
882 | V>A | No |
ClinGen ExAC |
|
|
rs369131118 CA5683986 |
882 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378135896 rs1362401934 |
884 | K>E | No |
ClinGen TOPMed |
|
|
CA5683989 rs766957789 |
885 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs754321903 CA5683990 |
885 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs755501681 CA378135910 |
886 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755501681 CA5683991 |
886 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378135909 rs755501681 |
886 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145906256 COSM200566 CA5683992 |
886 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1219623951 CA378135982 |
892 | T>A | No |
ClinGen TOPMed |
|
|
CA213172759 rs1004221766 |
896 | E>K | No |
ClinGen Ensembl |
|
|
rs1564787205 CA378136072 |
898 | N>D | No |
ClinGen Ensembl |
|
|
CA5683998 rs779569548 |
899 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378136128 rs1406350768 |
901 | S>L | No |
ClinGen gnomAD |
|
|
rs1025018871 CA213172779 |
904 | A>T | No |
ClinGen Ensembl |
|
|
CA5684000 rs768517427 |
905 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5684001 rs774186039 |
906 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378136198 rs774186039 |
906 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351290267 CA378136220 |
907 | F>L | No |
ClinGen gnomAD |
|
|
rs773281804 CA5684004 |
912 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1319832341 CA378137228 |
914 | V>A | No |
ClinGen gnomAD |
|
|
rs1564788686 CA378137225 |
914 | V>L | No |
ClinGen Ensembl |
|
|
CA213178524 rs879267207 |
920 | R>* | No |
ClinGen gnomAD |
|
|
CA378137267 rs1216075506 |
920 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA213178530 rs772812351 |
921 | V>L | No |
ClinGen Ensembl |
|
|
CA378137294 rs1247516331 |
924 | V>A | No |
ClinGen TOPMed |
|
|
CA213178549 rs953051326 |
925 | A>G | No |
ClinGen TOPMed |
|
|
rs1564788706 CA378137305 |
926 | I>M | No |
ClinGen Ensembl |
|
|
CA5684033 rs755739529 |
926 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5684034 rs762342954 |
927 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA213178559 rs141168763 |
928 | N>S | No |
ClinGen ESP |
|
|
rs1265010630 CA378137337 |
931 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1265010630 CA378137335 |
931 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5684035 rs376608965 |
933 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754459740 CA5684036 |
936 | V>A | No |
ClinGen ExAC |
|
|
rs1208245285 CA378137370 |
936 | V>L | No |
ClinGen gnomAD |
|
|
rs748113325 CA5684038 |
937 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA378137389 rs1187457896 |
939 | P>A | No |
ClinGen gnomAD |
|
|
CA5684039 rs758288537 |
940 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA378137404 rs111543901 |
941 | Q>P | No |
ClinGen gnomAD |
|
|
CA213178633 rs111543901 |
941 | Q>R | No |
ClinGen gnomAD |
|
|
rs1589695956 CA378137410 |
942 | L>P | No |
ClinGen Ensembl |
|
|
rs139004045 CA5684040 |
942 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378137412 rs746806515 CA5684041 |
943 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA213178664 rs1027039186 |
945 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5684043 rs201130824 |
946 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs886917634 CA213178672 |
947 | Y>H | No |
ClinGen Ensembl |
|
|
CA378137472 rs114303567 |
951 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5684046 rs75947816 |
952 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769151793 CA5684048 |
953 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs916128213 CA213178725 |
954 | S>R | No |
ClinGen TOPMed |
|
|
CA378137494 COSM683407 rs1227860243 |
955 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs779018603 CA5684068 |
958 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5684069 rs779018603 |
958 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1384533225 CA378247345 |
962 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA378247339 rs1241461372 |
962 | D>H | No |
ClinGen TOPMed |
|
|
rs1307782183 CA378247386 |
968 | T>K | No |
ClinGen TOPMed |
|
|
CA213136574 rs371064180 |
971 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5684071 rs371064180 |
971 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA213136603 rs866209538 COSM3736721 |
973 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs369794154 CA5684072 |
974 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA213136611 rs369794154 |
974 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369794154 CA378247423 |
974 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378247426 rs1356547489 |
975 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs564565487 CA378247424 |
975 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM277424 rs564565487 CA5684075 |
975 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5684076 rs751539516 |
979 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5684077 rs374153830 |
980 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781141731 CA5684078 |
983 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA378247501 rs1189030755 |
987 | L>F | No |
ClinGen TOPMed |
|
|
rs780424121 CA5684081 |
988 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208762214 CA378247519 |
990 | D>N | No |
ClinGen gnomAD |
|
|
CA378247530 rs1439266019 |
991 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1564794627 CA378247534 |
992 | K>E | No |
ClinGen Ensembl |
|
|
CA378247553 rs1242007233 |
994 | I>T | No |
ClinGen gnomAD |
|
|
rs1459872982 CA378247562 |
996 | V>I | No |
ClinGen gnomAD |
|
|
CA378247717 rs1286033949 |
999 | Y>H | No |
ClinGen gnomAD |
|
|
rs1025987848 CA213138688 |
1003 | Q>H | No |
ClinGen Ensembl |
|
|
rs748977192 CA5684108 |
1004 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1198482558 CA378247760 |
1005 | L>V | No |
ClinGen gnomAD |
|
|
rs556289294 CA5684110 |
1006 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1452213402 CA378247784 |
1008 | S>F | No |
ClinGen gnomAD |
|
|
CA378247803 rs1386377928 |
1011 | L>R | No |
ClinGen gnomAD |
|
|
CA378247808 rs761407861 |
1012 | D>G | No |
ClinGen ExAC |
|
|
CA5684111 rs761407861 |
1012 | D>V | No |
ClinGen ExAC |
|
|
rs774168138 CA213138735 |
1014 | H>R | No |
ClinGen Ensembl |
|
|
CA378247839 rs1424392798 |
1016 | P>L | No |
ClinGen gnomAD |
|
|
rs1357550637 CA378247844 |
1017 | D>G | No |
ClinGen gnomAD |
|
|
CA5684112 rs767607446 |
1019 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5684114 rs760646492 |
1021 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs773300109 CA5684113 |
1021 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1283461962 CA378247875 |
1022 | R>G | No |
ClinGen TOPMed |
|
|
CA5684115 rs766197725 |
1024 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5684116 rs753517391 |
1025 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1224970851 CA378247906 |
1026 | G>D | No |
ClinGen TOPMed |
|
|
CA213138792 rs1023951285 |
1029 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5684118 rs537534549 |
1031 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537534549 CA5684119 |
1031 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA213138804 COSM168550 rs766974726 |
1031 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA378247939 rs1221453429 |
1032 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA213138834 rs918075925 |
1035 | K>E | No |
ClinGen Ensembl |
|
|
CA378248262 rs771804310 |
1037 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5684146 RCV000991040 rs771804310 |
1037 | T>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA213144403 rs368353673 |
1039 | V>I | No |
ClinGen Ensembl |
|
|
CA213144415 rs865974524 |
1040 | P>S | No |
ClinGen Ensembl |
|
|
rs1334580946 CA378248340 |
1042 | D>E | No |
ClinGen gnomAD |
|
|
rs777477648 CA5684147 |
1043 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5684148 rs746489191 |
1043 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746489191 CA378248346 |
1043 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770969693 CA5684149 |
1045 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763322021 CA213144471 |
1046 | I>T | No |
ClinGen gnomAD |
|
|
CA5684152 rs112848258 |
1048 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA213144496 rs1013405023 |
1050 | P>L | No |
ClinGen Ensembl |
|
|
CA378248452 rs1322941069 |
1050 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1160574546 CA378248469 |
1051 | G>D | No |
ClinGen gnomAD |
|
|
rs1201904804 CA378248467 |
1051 | G>R | No |
ClinGen gnomAD |
|
|
CA213144498 rs996022745 |
1052 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378248481 rs1260092878 |
1053 | P>R | No |
ClinGen gnomAD |
|
|
CA213144505 rs1052120969 |
1054 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378248506 rs1468807938 |
1057 | E>D | No |
ClinGen gnomAD |
|
|
CA5684156 rs751676272 |
1057 | E>K | No |
ClinGen ExAC |
|
|
CA213144550 rs752386185 |
1061 | L>F | No |
ClinGen Ensembl |
|
|
CA5684158 rs369293021 |
1065 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378248558 rs1466503644 |
1065 | N>S | No |
ClinGen gnomAD |
|
|
rs568294680 CA5684159 |
1068 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5684160 rs755599191 |
1069 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378248604 rs1215413028 |
1072 | G>D | No |
ClinGen TOPMed |
|
|
CA378248632 rs1310053434 |
1076 | D>G | No |
ClinGen Ensembl |
|
|
rs1279046526 CA378248649 |
1079 | Q>K | No |
ClinGen gnomAD |
|
|
rs755382343 CA5684181 |
1080 | I>T | No |
ClinGen ExAC |
|
|
CA378248675 rs1158963266 |
1080 | I>V | No |
ClinGen gnomAD |
|
|
CA5684182 rs765639768 |
1081 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5684183 rs751176270 |
1083 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1401156587 CA378248704 |
1085 | F>L | No |
ClinGen TOPMed |
|
|
rs771279268 CA5684185 |
1086 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs771279268 CA5684184 |
1086 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1441560618 CA378248717 |
1087 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1441560618 CA378248716 |
1087 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA378248723 rs1379690915 |
1088 | L>V | No |
ClinGen gnomAD |
|
|
rs865825711 CA213147814 |
1090 | Q>K | No |
ClinGen Ensembl |
|
|
CA213147840 rs976743707 |
1093 | V>I | No |
ClinGen gnomAD |
|
|
rs779959295 CA5684188 |
1094 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5684189 rs749136180 |
1099 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150700516 COSM110473 CA213147885 |
1100 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5684194 rs563904095 |
1101 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563904095 CA5684193 |
1101 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777291871 CA5684197 |
1104 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760053780 CA5684198 |
1106 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1179206086 CA378248842 |
1106 | Y>D | No |
ClinGen gnomAD |
|
|
rs756907196 CA5684201 |
1107 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs753056099 CA5684200 |
1107 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767166140 CA5684202 |
1111 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378248896 rs770311727 |
1113 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5684204 COSM427049 rs755605384 |
1113 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5684217 rs770311727 |
1113 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244198284 CA378248915 |
1116 | V>A | No |
ClinGen TOPMed |
|
|
CA5684220 rs767130321 |
1119 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378248932 rs767130321 |
1119 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760250900 CA5684222 |
1121 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs750099595 CA5684221 |
1121 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5684224 rs753328864 |
1123 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778909054 CA5684226 COSM683403 |
1127 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754951786 CA5684225 |
1127 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA378248986 rs754951786 |
1127 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752493724 CA5684227 |
1130 | L>V | No |
ClinGen ExAC |
|
|
rs1265599722 CA378249015 |
1131 | L>F | No |
ClinGen gnomAD |
|
|
rs1564797438 CA378249030 |
1134 | V>L | No |
ClinGen Ensembl |
|
|
CA5684229 rs777364962 |
1135 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA378249047 rs1198712523 |
1137 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378249058 rs1427293797 |
1139 | A>T | No |
ClinGen gnomAD |
|
|
rs747266223 COSM401112 CA5684230 |
1140 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs75048624 CA213149074 |
1142 | L>F | No |
ClinGen Ensembl |
|
|
CA5684231 rs771227947 |
1144 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA378249101 rs1384926543 |
1145 | K>R | No |
ClinGen gnomAD |
|
|
CA5684248 rs757592911 |
1149 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1190315390 CA378249148 |
1149 | K>N | No |
ClinGen TOPMed |
|
|
CA5684249 rs781558660 |
1149 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5684250 rs745999809 |
1151 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5684252 rs779927929 |
1152 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1239375771 CA378249162 |
1152 | W>R | No |
ClinGen gnomAD |
|
|
CA378249186 rs1334764787 |
1155 | I>V | No |
ClinGen gnomAD |
|
|
CA5684254 rs769025404 |
1156 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163263863 CA378249207 |
1158 | Q>E | No |
ClinGen gnomAD |
|
|
CA213154263 rs142308746 |
1159 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA378249217 rs142308746 |
1159 | V>L | No |
ClinGen ESP gnomAD |
|
|
CA378249254 rs768149623 CA378249256 |
1161 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748509982 CA5684256 |
1162 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1026747537 CA213154266 |
1162 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378249287 rs1310331464 |
1164 | E>G | No |
ClinGen gnomAD |
|
|
CA213154275 COSM138782 rs267602360 |
1167 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA213154273 rs889516127 |
1167 | M>T | No |
ClinGen TOPMed |
|
|
CA378249357 rs1272431545 |
1169 | G>E | No |
ClinGen TOPMed |
|
|
CA5684257 RCV000954135 rs41291854 |
1172 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378249415 rs1316126253 |
1174 | S>N | No |
ClinGen gnomAD |
|
|
CA5684258 rs140421862 |
1177 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3952795 CA5684259 rs759046110 |
1177 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA378249487 rs1404223454 |
1179 | K>R | No |
ClinGen TOPMed |
|
|
rs1031638025 CA213154308 |
1181 | T>I | No |
ClinGen TOPMed |
|
|
rs377048865 CA5684261 |
1182 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377048865 CA378249517 |
1182 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150071930 CA213154326 |
1185 | F>S | No |
ClinGen ESP TOPMed |
|
|
CA5684262 rs762996381 |
1185 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA378249575 rs1425144066 |
1186 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs751464825 CA5684264 |
1188 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463577482 CA378249601 |
1188 | P>L | No |
ClinGen gnomAD |
|
|
CA378249593 rs751464825 |
1188 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5684265 rs751464825 |
1188 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA213154386 rs142565865 |
1189 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5684269 rs146732356 |
1193 | D>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA378249673 rs982150956 |
1193 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA378249662 rs1300826161 |
1193 | D>N | No |
ClinGen gnomAD |
|
|
CA5684270 rs538708350 |
1194 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5684271 rs538708350 |
1194 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5684274 rs371098881 |
1195 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5684273 rs755580004 |
1195 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5684272 rs749301192 |
1195 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378249704 rs1278928208 |
1196 | L>V | No |
ClinGen gnomAD |
|
|
rs748599774 CA5684275 |
1197 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA378249713 rs1564798765 |
1197 | D>Y | No |
ClinGen Ensembl |
|
|
rs1055407423 CA213154504 |
1198 | T>A | No |
ClinGen TOPMed |
|
|
CA5684276 rs139206461 COSM1345693 |
1198 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs769309638 CA213154570 |
1199 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5684280 rs374339469 |
1199 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM220172 rs769309638 CA5684279 |
1199 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs367891062 CA213154621 |
1200 | V>A | No |
ClinGen ESP |
|
|
CA5684281 rs762365516 |
1200 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768770378 CA5684282 |
1201 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199505192 CA5684283 |
1201 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768770378 CA213154623 |
1201 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761860983 CA5684302 |
1203 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378249840 rs1564799087 |
1203 | G>S | No |
ClinGen Ensembl |
|
|
rs1263391406 CA378249862 |
1205 | A>T | No |
ClinGen TOPMed |
|
|
rs576096493 CA5684304 |
1207 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772108990 CA5684303 |
1207 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1348944545 CA378249930 |
1210 | S>G | No |
ClinGen TOPMed |
|
|
CA378249933 rs1267842801 |
1210 | S>N | No |
ClinGen TOPMed |
|
|
rs765325672 CA5684309 |
1211 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5684308 rs759715663 |
1211 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5684307 rs146780166 |
1211 | E>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1326196935 CA378249965 |
1215 | E>* | No |
ClinGen TOPMed |
|
|
CA5684311 rs758945052 |
1216 | I>T | No |
ClinGen ExAC |
|
|
CA378249974 rs1296261116 |
1216 | I>V | No |
ClinGen gnomAD |
|
|
CA5684312 rs756672355 |
1217 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1218661563 CA378249985 |
1218 | N>D | No |
ClinGen gnomAD |
|
|
CA5684313 rs752017600 |
1218 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA213155495 rs978417065 |
1219 | C>R | No |
ClinGen Ensembl |
|
|
CA213155518 rs946854905 |
1220 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1488742075 CA378250005 |
1221 | S>G | No |
ClinGen gnomAD |
|
|
rs1435832185 CA378250009 |
1221 | S>N | No |
ClinGen TOPMed |
No associated diseases with Q9UPU3
No regional properties for Q9UPU3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UPU3 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| integral component of postsynaptic density membrane | The component of the postsynaptic density 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| neuropeptide receptor activity | Combining with a neuropeptide to initiate a change in cell activity. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| learning | Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience. |
| memory | The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
| neuropeptide signaling pathway | A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
| regulation of long-term synaptic depression | Any process that modulates the frequency, rate or extent of long term synaptic depression. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAARTERPA | GRPGAPLVRT | GLLLLSTWVL | AGAEITWDAT | GGPGRPAAPA | SRPPALSPLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PRAVASQWPE | ELASARRAAV | LGRRAGPELL | PQQGGGRGGE | MQVEAGGTSP | AGERRGRGIP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| APAKLGGARR | SRRAQPPITQ | ERGDAWATAP | ADGSRGSRPL | AKGSREEVKA | PRAGGSAAED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LRLPSTSFAL | TGDSAHNQAM | VHWSGHNSSV | ILILTKLYDF | NLGSVTESSL | WRSTDYGTTY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKLNDKVGLK | TVLSYLYVNP | TNKRKIMLLS | DPEMESSILI | SSDEGATYQK | YRLTFYIQSL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LFHPKQEDWV | LAYSLDQKLY | SSMDFGRRWQ | LMHERITPNR | FYWSVAGLDK | EADLVHMEVR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TTDGYAHYLT | CRIQECAETT | RSGPFARSID | ISSLVVQDEY | IFIQVTTSGR | ASYYVSYRRE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AFAQIKLPKY | SLPKDMHIIS | TDENQVFAAV | QEWNQNDTYN | LYISDTRGIY | FTLAMENIKS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SRGLMGNIII | ELYEVAGIKG | IFLANKKVDD | QVKTYITYNK | GRDWRLLQAP | DVDLRGSPVH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CLLPFCSLHL | HLQLSENPYS | SGRISSKETA | PGLVVATGNI | GPELSYTDIG | VFISSDGGNT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WRQIFDEEYN | VWFLDWGGAL | VAMKHTPLPV | RHLWVSFDEG | HSWDKYGFTS | VPLFVDGALV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EAGMETHIMT | VFGHFSLRSE | WQLVKVDYKS | IFSRHCTKED | YQTWHLLNQG | EPCVMGERKI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FKKRKPGAQC | ALGRDHSGSV | VSEPCVCANW | DFECDYGYER | HGESQCVPAF | WYNPASPSKD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CSLGQSYLNS | TGYRRIVSNN | CTDGLREKYT | AKAQMCPGKA | PRGLHVVTTD | GRLVAEQGHN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ATFIILMEEG | DLQRTNIQLD | FGDGIAVSYA | NFSPIEDGIK | HVYKSAGIFQ | VTAYAENNLG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SDTAVLFLHV | VCPVEHVHLR | VPFVAIRNKE | VNISAVVWPS | QLGTLTYFWW | FGNSTKPLIT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LDSSISFTFL | AEGTDTITVQ | VAAGNALIQD | TKEIAVHEYF | QSQLLSFSPN | LDYHNPDIPE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| WRKDIGNVIK | RALVKVTSVP | EDQILIAVFP | GLPTSAELFI | LPPKNLTERR | KGNEGDLEQI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| VETLFNALNQ | NLVQFELKPG | VQVIVYVTQL | TLAPLVDSSA | GHSSSAMLML | LSVVFVGLAV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| FLIYKFKRKI | PWINIYAQVQ | HDKEQEMIGS | VSQSENAPKI | TLSDFTEPEE | LLDKELDTRV |
| 1210 | 1220 | ||||
| IGGIATIANS | ESTKEIPNCT | SV |