Q9Y490
Gene name |
TLN1 (KIAA1027, TLN) |
Protein name |
Talin-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7094 |
EC number |
|
Protein Class |
TALIN (PTHR19981) |

Descriptions
Talin-1, a FERM domain-containing protein, forms a direct link between integrin adhesion receptors and the actin cytoskeleton and is an important regulator of integrin function. The PTB domain within the FERM domain is responsible for binding to integrin. A segment in the C-terminal rod domain (Talin-R) interacts with the FERM domain for autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
86-403 (FERM domain) |
Relief mechanism |
Ligand binding |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure

5 structures for Q9Y490
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1SYQ | X-ray | 242 A | B | 607-631 | PDB |
2MWN | NMR | - | B | 308-400 | PDB |
4DJ9 | X-ray | 225 A | B | 2075-2103 | PDB |
6R9T | EM | 620 A | A | 1-2541 | PDB |
AF-Q9Y490-F1 | Predicted | AlphaFoldDB |
1500 variants for Q9Y490
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA373386129 rs1227892113 |
9 | S>N | No |
ClinGen gnomAD |
|
rs1285719610 CA373385933 |
16 | T>K | No |
ClinGen TOPMed gnomAD |
|
rs1285719610 CA373385922 |
16 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA373385872 rs1587991243 |
17 | M>I | No |
ClinGen Ensembl |
|
CA373385797 rs1322985698 |
20 | E>Q | No |
ClinGen TOPMed |
|
CA5049590 rs764312097 |
21 | P>L | No |
ClinGen ExAC gnomAD |
|
CA373385684 rs1587991234 |
23 | T>P | No |
ClinGen Ensembl |
|
CA5049588 rs373447882 |
24 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774294631 CA5049584 |
27 | D>A | No |
ClinGen ExAC gnomAD |
|
CA5049585 rs759500904 |
27 | D>H | No |
ClinGen ExAC gnomAD |
|
CA5049582 rs201410003 |
28 | A>P | No |
ClinGen ExAC gnomAD |
|
CA192749959 rs931802569 |
30 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA5049581 rs772875479 |
30 | R>H | No |
ClinGen ExAC gnomAD |
|
CA5049578 rs765432963 |
33 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049576 rs746403233 |
33 | R>H | No |
ClinGen ExAC gnomAD |
|
CA5049577 rs765432963 |
33 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs192509639 CA5049574 |
35 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs192509639 CA5049575 |
35 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1160694477 CA373385329 |
35 | R>W | No |
ClinGen TOPMed |
|
rs764353381 CA5049572 |
36 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5049571 rs756368221 |
37 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192749918 rs954081417 |
39 | A>V | No |
ClinGen TOPMed |
|
rs368772384 CA5049570 |
40 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373385182 rs1362657311 |
41 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs1362657311 CA373385180 |
41 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs767604786 CA5049569 |
42 | G>C | No |
ClinGen ExAC gnomAD |
|
rs759553785 CA5049568 |
43 | P>S | No |
ClinGen ExAC gnomAD |
|
CA5049567 rs543841478 |
44 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5049566 rs543841478 COSM3675330 |
44 | P>S | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA192749830 rs536669266 |
45 | S>G | No |
ClinGen 1000Genomes |
|
rs536669266 CA192749836 |
45 | S>R | No |
ClinGen 1000Genomes |
|
rs954067726 CA192749821 |
51 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA373384803 rs1303513893 |
54 | D>H | No |
ClinGen gnomAD |
|
CA373384796 rs1303513893 |
54 | D>Y | No |
ClinGen gnomAD |
|
CA5049546 rs371976092 |
57 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5049547 rs371976092 |
57 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5049544 rs750292056 |
60 | I>K | No |
ClinGen ExAC |
|
CA5049543 rs765151284 |
60 | I>M | No |
ClinGen ExAC gnomAD |
|
rs761646598 CA5049542 |
64 | A>S | No |
ClinGen ExAC gnomAD |
|
CA5049541 rs776429133 |
66 | K>E | No |
ClinGen ExAC gnomAD |
|
CA373384444 rs1587991003 |
69 | D>G | No |
ClinGen Ensembl |
|
CA192749813 rs200024752 |
70 | Y>C | No |
ClinGen 1000Genomes TOPMed |
|
rs760233959 CA5049539 |
72 | M>I | No |
ClinGen ExAC gnomAD |
|
CA373384285 rs1396892544 |
74 | R>* | No |
ClinGen gnomAD |
|
CA5049538 rs201713560 |
74 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1287560935 CA373383999 |
77 | D>E | No |
ClinGen gnomAD |
|
CA5049523 rs753744411 |
78 | T>I | No |
ClinGen ExAC gnomAD |
|
CA5049522 rs145717496 |
79 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373383717 rs1294480042 |
85 | Q>E | No |
ClinGen TOPMed |
|
rs758902731 CA373383593 |
91 | R>C | No |
ClinGen ExAC gnomAD |
|
rs773845413 CA5049517 |
91 | R>H | No |
ClinGen ExAC gnomAD |
|
CA5049518 rs758902731 |
91 | R>S | No |
ClinGen ExAC gnomAD |
|
CA5049516 rs770339411 |
98 | K>R | No |
ClinGen ExAC gnomAD |
|
rs777017174 CA5049514 |
109 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373383157 rs1554663565 |
109 | T>S | No |
ClinGen Ensembl |
|
CA373383054 rs1447271147 |
113 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA373383063 rs1563947434 |
113 | M>V | No |
ClinGen Ensembl |
|
rs536004861 CA192749667 |
115 | I>V | No |
ClinGen gnomAD |
|
rs780086317 CA5049511 |
118 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1192780746 CA373382950 |
118 | R>H | No |
ClinGen gnomAD |
|
rs746012205 CA5049509 |
119 | I>T | No |
ClinGen ExAC gnomAD |
|
rs374516720 CA5049510 |
119 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5049488 rs749249409 |
121 | I>V | No |
ClinGen ExAC gnomAD |
|
CA373382786 rs1443370181 |
122 | T>I | No |
ClinGen gnomAD |
|
rs1372073790 CA373382732 |
124 | H>R | No |
ClinGen gnomAD |
|
rs777503374 CA5049487 |
132 | E>V | No |
ClinGen ExAC gnomAD |
|
rs776334510 CA5049486 |
134 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1398400329 CA373382441 |
137 | K>T | No |
ClinGen gnomAD |
|
rs1367577993 CA373382327 |
142 | T>P | No |
ClinGen TOPMed gnomAD |
|
rs1168373512 CA373382310 |
143 | G>A | No |
ClinGen gnomAD |
|
rs1465494218 CA373382124 |
149 | K>R | No |
ClinGen gnomAD |
|
CA373382093 rs1311050272 |
150 | T>R | No |
ClinGen TOPMed |
|
CA373382029 rs1195021793 |
153 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1316192196 CA373382006 |
154 | D>G | No |
ClinGen TOPMed |
|
CA373381891 rs1431227433 |
157 | K>R | No |
ClinGen gnomAD |
|
CA373381850 rs1330239582 |
158 | M>I | No |
ClinGen gnomAD |
|
rs765893152 CA5049481 |
163 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs777131457 CA5049479 |
171 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749963448 CA5049458 |
175 | D>G | No |
ClinGen ExAC gnomAD |
|
CA373381031 rs1168790689 |
176 | H>R | No |
ClinGen gnomAD |
|
CA5049456 rs761126857 |
177 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049454 rs767796509 |
178 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA5049455 rs145664330 |
178 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774849472 CA5049452 |
182 | E>K | No |
ClinGen ExAC gnomAD |
|
rs763245321 CA5049451 |
183 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA192749402 rs950042940 |
186 | E>A | No |
ClinGen TOPMed |
|
CA373380669 rs1304193914 |
187 | E>G | No |
ClinGen Ensembl |
|
rs769874189 CA5049448 |
190 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779816111 CA5049444 |
195 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1432332562 CA373380331 |
201 | D>A | No |
ClinGen gnomAD |
|
rs758096909 CA5049442 |
202 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs1322410850 CA373380134 |
207 | R>Q | No |
ClinGen gnomAD |
|
rs1403873435 CA373380138 |
207 | R>W | No |
ClinGen TOPMed |
|
CA373380119 rs1459559662 |
208 | D>G | No |
ClinGen gnomAD |
|
CA373379729 rs1349463571 |
220 | R>Q | No |
ClinGen gnomAD |
|
rs1303627949 CA373379701 COSM1108755 |
222 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs199774975 CA192749299 |
228 | H>R | No |
ClinGen 1000Genomes |
|
CA373379445 rs1307295586 |
234 | K>E | No |
ClinGen gnomAD |
|
rs776744554 CA5049410 |
236 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs764128875 CA5049409 |
237 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1432897013 CA373379314 |
239 | A>V | No |
ClinGen gnomAD |
|
CA373379293 rs1396987940 |
241 | F>L | No |
ClinGen gnomAD |
|
rs775359225 CA5049407 |
244 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs771869977 CA5049406 |
244 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs745741479 CA5049405 |
245 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770665238 CA5049403 |
246 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1208671195 CA373379069 |
251 | N>D | No |
ClinGen gnomAD |
|
rs748861684 CA5049402 |
251 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1486334735 CA373379062 |
251 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs1238971230 CA373378941 |
255 | H>R | No |
ClinGen gnomAD |
|
rs1305283038 CA373378929 |
256 | K>R | No |
ClinGen gnomAD |
|
rs1374550823 CA373378922 |
257 | A>T | No |
ClinGen gnomAD |
|
rs1413483904 CA373378856 |
260 | L>P | No |
ClinGen gnomAD |
|
CA5049382 rs747725273 |
267 | P>A | No |
ClinGen ExAC gnomAD |
|
rs372294034 CA5049381 |
268 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
rs372294034 CA373377205 |
268 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA373377152 rs1212263218 |
271 | V>M | No |
ClinGen gnomAD |
|
rs1484079127 CA373377114 |
272 | K>R | No |
ClinGen gnomAD |
|
CA5049377 rs757515254 |
277 | R>H | No |
ClinGen ExAC gnomAD |
|
CA373376931 rs1252621660 |
279 | I>V | No |
ClinGen gnomAD |
|
CA5049376 rs371166073 |
280 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA192748405 rs879105325 |
282 | A>T | No |
ClinGen TOPMed |
|
CA373376648 rs1371373533 |
283 | H>R | No |
ClinGen gnomAD |
|
CA5049353 rs751516819 |
284 | K>N | No |
ClinGen ExAC gnomAD |
|
CA5049352 rs766292569 |
285 | N>S | No |
ClinGen ExAC gnomAD |
|
CA5049351 rs147185234 |
286 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373376537 rs1433514904 |
287 | G>E | No |
ClinGen gnomAD |
|
rs750294970 CA5049350 |
288 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1175057298 CA373376510 |
289 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA5049349 rs201793772 |
289 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5049348 rs761589467 |
290 | S>N | No |
ClinGen ExAC gnomAD |
|
CA5049347 rs758805095 |
293 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA192748359 rs763016657 |
295 | K>N | No |
ClinGen Ensembl |
|
COSM1108753 CA5049344 rs145146362 |
297 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs878988086 CA192748352 |
297 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs749761240 CA5049342 |
299 | V>M | No |
ClinGen ExAC |
|
rs773595542 CA5049341 |
303 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1337342369 CA373376002 |
306 | K>N | No |
ClinGen gnomAD |
|
rs1236664537 CA373376012 |
306 | K>R | No |
ClinGen gnomAD |
|
rs781204087 CA373375972 COSM3848487 |
308 | Y>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA373375966 rs1272365785 |
309 | G>S | No |
ClinGen TOPMed |
|
rs370968659 CA5049336 |
313 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
CA5049319 rs747225981 |
319 | M>I | No |
ClinGen ExAC gnomAD |
|
rs75137786 CA192748166 |
323 | N>T | No |
ClinGen Ensembl |
|
CA373375512 rs1212881819 |
323 | N>Y | No |
ClinGen gnomAD |
|
CA373375211 rs778932042 |
335 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1166541102 CA373375206 |
336 | C>R | No |
ClinGen TOPMed |
|
CA192748157 rs1047971031 |
336 | C>Y | No |
ClinGen TOPMed |
|
rs1462467823 CA373375011 |
342 | E>G | No |
ClinGen TOPMed |
|
CA373374996 rs1325630521 |
343 | K>N | No |
ClinGen TOPMed |
|
CA5049313 rs753636681 |
358 | R>L | No |
ClinGen ExAC gnomAD |
|
rs777591594 CA5049312 |
360 | A>T | No |
ClinGen ExAC gnomAD |
|
CA373372932 rs1452909593 |
365 | S>T | No |
ClinGen gnomAD |
|
rs775996667 CA5049282 |
374 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1303821612 CA373372306 |
375 | D>G | No |
ClinGen gnomAD |
|
COSM1240424 rs376501141 CA5049280 |
377 | Y>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs770990438 CA5049278 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5049276 rs150744632 |
396 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5049273 rs780941031 |
402 | K>R | No |
ClinGen ExAC gnomAD |
|
CA5049243 rs768004634 |
407 | D>E | No |
ClinGen ExAC gnomAD |
|
rs368235194 CA5049241 |
410 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA192747719 rs868729826 |
410 | G>V | No |
ClinGen Ensembl |
|
rs1391584560 CA373371688 |
415 | E>K | No |
ClinGen gnomAD |
|
rs765189547 CA5049237 |
416 | E>G | No |
ClinGen ExAC gnomAD |
|
CA5049238 rs773380469 |
416 | E>K | No |
ClinGen ExAC gnomAD |
|
CA373371621 rs1208571911 |
419 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA192747709 rs910238793 |
425 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs1327910304 CA373371525 |
426 | P>A | No |
ClinGen TOPMed |
|
rs776494903 CA5049235 |
427 | K>I | No |
ClinGen ExAC gnomAD |
|
rs776494903 CA192747707 |
427 | K>R | No |
ClinGen ExAC gnomAD |
|
rs764077402 CA5049215 |
429 | S>T | No |
ClinGen ExAC gnomAD |
|
CA373371421 rs1378580706 |
430 | T>A | No |
ClinGen gnomAD |
|
rs760510356 CA5049214 |
433 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs994842848 CA192747638 |
435 | Q>E | No |
ClinGen TOPMed |
|
CA373371323 rs1183041344 |
437 | N>D | No |
ClinGen gnomAD |
|
rs759258592 CA5049211 |
437 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192747626 rs527316013 |
438 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5049209 rs527316013 |
438 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA192747631 rs879022300 |
438 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA373371282 rs1259994379 |
440 | G>R | No |
ClinGen gnomAD |
|
rs1288394763 CA373371205 |
445 | G>C | No |
ClinGen gnomAD |
|
rs777398726 CA5049207 |
447 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1587987883 CA373371172 |
448 | A>P | No |
ClinGen Ensembl |
|
CA373371110 COSM753494 rs1224311715 |
452 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA373371086 rs1222624665 |
453 | M>R | No |
ClinGen TOPMed gnomAD |
|
rs1414751173 CA373371073 |
454 | R>C | No |
ClinGen gnomAD |
|
rs375834194 CA5049204 |
454 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758633696 CA5049203 |
457 | A>T | No |
ClinGen ExAC gnomAD |
|
CA5049202 rs750664229 |
457 | A>V | No |
ClinGen ExAC gnomAD |
|
rs753970978 CA5049199 |
459 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373370990 rs1563945827 |
460 | P>R | No |
ClinGen Ensembl |
|
rs1587987846 CA373370994 |
460 | P>S | No |
ClinGen Ensembl |
|
CA192747614 rs1045686328 |
462 | N>T | No |
ClinGen Ensembl |
|
CA5049197 rs760699836 |
464 | Q>H | No |
ClinGen ExAC gnomAD |
|
COSM1242928 CA5049198 rs764131285 |
464 | Q>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA5049196 rs752530521 |
465 | V>L | No |
ClinGen ExAC gnomAD |
|
CA5049195 rs767346200 |
466 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1206632552 CA373370860 |
469 | P>L | No |
ClinGen gnomAD |
|
CA5049194 rs759314155 |
470 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049193 rs148182997 |
470 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373370856 rs759314155 |
470 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373370851 rs1587987813 |
471 | A>T | No |
ClinGen Ensembl |
|
CA373370841 rs1353641340 |
471 | A>V | No |
ClinGen gnomAD |
|
CA5049192 rs144393265 |
472 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs559753613 CA5049191 |
473 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5049189 rs769135736 |
478 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1321728049 CA373370687 |
481 | H>Q | No |
ClinGen gnomAD |
|
CA5049187 rs775795708 |
481 | H>R | No |
ClinGen ExAC gnomAD |
|
CA5049188 rs747563060 |
481 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs772630969 CA5049186 |
482 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373370663 rs1230355297 |
483 | G>A | No |
ClinGen TOPMed |
|
rs1349253474 CA373370669 |
483 | G>R | No |
ClinGen TOPMed |
|
rs1372679017 CA373370606 |
487 | P>S | No |
ClinGen gnomAD |
|
rs982322527 CA192747582 |
488 | L>V | No |
ClinGen TOPMed |
|
CA373370441 rs1371353477 |
492 | Q>K | No |
ClinGen gnomAD |
|
rs1175648832 CA373370418 |
493 | Q>R | No |
ClinGen gnomAD |
|
rs774733255 CA5049167 |
494 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373370410 rs1412482188 |
494 | A>T | No |
ClinGen gnomAD |
|
rs1587987641 CA373370268 |
501 | S>Y | No |
ClinGen Ensembl |
|
CA373370219 rs1183767060 |
503 | M>I | No |
ClinGen gnomAD |
|
rs1279105349 CA373370166 |
505 | A>D | No |
ClinGen gnomAD |
|
CA373370168 rs1483115967 |
505 | A>T | No |
ClinGen gnomAD |
|
rs778033300 CA5049164 |
506 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1219946412 CA373370124 |
507 | Q>R | No |
ClinGen TOPMed |
|
CA373370041 rs1329120959 |
510 | Q>* | No |
ClinGen gnomAD |
|
rs1587987613 CA373370036 |
510 | Q>P | No |
ClinGen Ensembl |
|
rs1287035234 CA373369998 |
511 | A>V | No |
ClinGen gnomAD |
|
CA373369992 rs1587987606 |
512 | T>P | No |
ClinGen Ensembl |
|
rs748221925 CA5049162 |
515 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781297713 CA5049161 |
518 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1302408195 CA373369806 |
519 | L>V | No |
ClinGen gnomAD |
|
rs754902274 CA5049160 |
520 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192747508 rs879187317 |
522 | L>F | No |
ClinGen TOPMed |
|
CA5049158 rs766290819 |
524 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1409613714 CA373369671 |
526 | A>T | No |
ClinGen gnomAD |
|
rs1161314089 CA373369651 |
526 | A>V | No |
ClinGen gnomAD |
|
CA373368653 rs1323605766 |
530 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1323605766 CA373368656 |
530 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA5049133 rs368180525 |
532 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1362763382 CA373368583 |
533 | K>R | No |
ClinGen gnomAD |
|
CA5049132 rs763529791 |
534 | N>K | No |
ClinGen ExAC gnomAD |
|
CA192747272 rs934995169 |
537 | D>E | No |
ClinGen TOPMed |
|
rs1435684203 CA373368427 |
538 | E>D | No |
ClinGen gnomAD |
|
rs1457039310 CA373368369 |
541 | H>L | No |
ClinGen TOPMed |
|
rs1157230916 CA373368286 |
544 | H>Y | No |
ClinGen TOPMed |
|
rs906153024 CA192747271 |
546 | Q>E | No |
ClinGen TOPMed |
|
CA373368155 rs1458939089 |
550 | I>L | No |
ClinGen gnomAD |
|
CA5049130 rs145834435 |
552 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145834435 CA373368087 |
552 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373368070 rs1167561677 |
553 | G>D | No |
ClinGen gnomAD |
|
rs1447341848 CA373368044 |
554 | T>I | No |
ClinGen gnomAD |
|
rs1046684551 CA192747270 |
555 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1267218525 CA373367975 |
557 | V>M | No |
ClinGen gnomAD |
|
rs773478129 CA5049127 |
559 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373367860 rs1292680149 |
562 | A>V | No |
ClinGen gnomAD |
|
CA373367615 rs1587987289 |
564 | D>A | No |
ClinGen Ensembl |
|
rs543975449 CA5049098 |
564 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5049097 rs770773021 |
565 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749152363 CA5049096 |
570 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA373367459 rs1182780311 |
570 | Y>H | No |
ClinGen gnomAD |
|
rs755791683 CA5049094 |
571 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747746834 CA5049093 |
571 | T>I | No |
ClinGen ExAC gnomAD |
|
rs746285293 CA5049091 |
572 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1587987269 CA373367381 |
573 | V>L | No |
ClinGen Ensembl |
|
CA192747253 rs1028888156 |
574 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs1279686601 CA373367280 |
576 | A>T | No |
ClinGen gnomAD |
|
CA5049088 rs757683436 |
579 | T>I | No |
ClinGen ExAC gnomAD |
|
CA5049086 rs764515818 |
580 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192747252 rs1030761518 |
582 | S>T | No |
ClinGen TOPMed |
|
rs1456166163 CA373367093 |
583 | N>K | No |
ClinGen gnomAD |
|
CA373367113 rs1320468153 |
583 | N>S | No |
ClinGen gnomAD |
|
rs200664793 CA373367049 |
585 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200664793 CA5049085 |
585 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373367005 rs1472529953 |
586 | E>G | No |
ClinGen gnomAD |
|
CA192747251 rs890193369 |
587 | M>T | No |
ClinGen gnomAD |
|
CA5049083 rs759490877 |
589 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049081 rs368422507 |
589 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5049082 rs368422507 |
589 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773010808 CA5049078 |
590 | G>A | No |
ClinGen ExAC gnomAD |
|
rs749136653 CA5049080 |
590 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749136653 CA5049079 |
590 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769518806 CA5049077 |
591 | V>L | No |
ClinGen ExAC gnomAD |
|
CA5049076 rs747802105 |
598 | L>M | No |
ClinGen ExAC |
|
CA373366691 rs1383967562 |
601 | E>K | No |
ClinGen gnomAD |
|
rs1433483925 CA373366617 |
603 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1433483925 CA373366620 |
603 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs878946268 CA192747248 |
604 | S>I | No |
ClinGen TOPMed |
|
rs776650695 CA5049073 |
605 | G>A | No |
ClinGen ExAC gnomAD |
|
rs776650695 CA192747247 |
605 | G>D | No |
ClinGen ExAC gnomAD |
|
rs757816384 CA5049072 |
606 | R>G | No |
ClinGen ExAC gnomAD |
|
CA5049070 rs754349057 |
606 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA5049071 rs757816384 |
606 | R>W | No |
ClinGen ExAC gnomAD |
|
CA5049069 rs778298599 |
608 | L>P | No |
ClinGen ExAC gnomAD |
|
CA373366512 rs1445530691 |
612 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA192747246 rs878976620 |
614 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs756483237 CA5049068 |
616 | A>V | No |
ClinGen ExAC gnomAD |
|
rs371493482 CA5049066 |
619 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373366407 rs1185034404 |
620 | S>P | No |
ClinGen gnomAD |
|
CA373366385 rs1198082201 |
621 | E>D | No |
ClinGen gnomAD |
|
CA5049065 rs759643203 |
621 | E>K | No |
ClinGen ExAC gnomAD |
|
COSM1108747 CA5049064 rs373629805 |
624 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA5049063 rs766317254 |
624 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766317254 CA373366346 |
624 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049062 rs762959619 |
625 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1261826285 CA373366326 |
625 | S>R | No |
ClinGen TOPMed |
|
rs138910002 CA5049059 |
627 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370472269 CA192747245 |
630 | S>G | No |
ClinGen ESP gnomAD |
|
CA5049058 rs776388665 |
630 | S>I | No |
ClinGen ExAC gnomAD |
|
rs367875252 CA5049057 |
632 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373366208 rs1349952403 |
633 | P>H | No |
ClinGen TOPMed gnomAD |
|
rs776442599 CA5049040 |
634 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373366204 rs776442599 |
634 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049039 rs768287685 |
634 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs898935792 CA192747235 |
635 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA373366185 rs1412574170 |
637 | L>V | No |
ClinGen gnomAD |
|
CA192747234 rs1037299168 |
638 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs150216234 CA5049037 |
640 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1382696230 CA373366157 |
642 | G>R | No |
ClinGen gnomAD |
|
CA373366144 rs1409221403 |
644 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs371169599 CA192747233 |
645 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
CA5049035 rs551161464 |
646 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs778548070 CA5049034 |
646 | Q>R | No |
ClinGen ExAC gnomAD |
|
COSM4152281 rs1209808173 CA373366110 |
649 | G>E | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs781627839 CA5049031 |
655 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049029 rs747393772 |
657 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1225647414 CA373366048 |
658 | S>N | No |
ClinGen gnomAD |
|
rs780197868 CA5049028 |
660 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780197868 CA192747232 |
660 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1302505470 CA373366026 |
661 | D>E | No |
ClinGen gnomAD |
|
rs758597217 CA5049027 |
662 | P>H | No |
ClinGen ExAC gnomAD |
|
CA373366021 rs758597217 |
662 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1203680035 CA373366024 |
662 | P>T | No |
ClinGen TOPMed |
|
CA192747230 rs949671844 |
663 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs878859855 CA192747231 |
663 | H>Y | No |
ClinGen gnomAD |
|
CA373365878 rs1184546209 |
667 | A>T | No |
ClinGen gnomAD |
|
CA5049011 rs747380188 |
667 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373365825 rs1170401089 |
669 | M>I | No |
ClinGen TOPMed |
|
rs1410956490 CA373365836 |
669 | M>T | No |
ClinGen TOPMed |
|
rs746042156 CA5049008 |
670 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs758650652 CA5049009 |
670 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs778979555 CA5049007 |
671 | L>F | No |
ClinGen ExAC gnomAD |
|
CA192747111 rs767808091 |
672 | A>T | No |
ClinGen gnomAD |
|
rs1292818814 CA373365722 |
674 | A>T | No |
ClinGen gnomAD |
|
CA373365705 rs1227335669 |
674 | A>V | No |
ClinGen gnomAD |
|
rs909164828 CA192747110 |
675 | V>A | No |
ClinGen Ensembl |
|
rs1362788513 CA373365700 |
675 | V>M | No |
ClinGen gnomAD |
|
CA373365678 rs1297630964 |
676 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA373365674 rs1297630964 |
676 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA5049005 rs753950809 |
678 | A>T | No |
ClinGen ExAC gnomAD |
|
CA5049002 rs752479194 |
687 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049003 rs752479194 |
687 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5049000 rs759272319 |
689 | V>M | No |
ClinGen ExAC gnomAD |
|
CA192747108 rs955187028 |
690 | A>T | No |
ClinGen TOPMed |
|
rs1371771648 CA373365196 |
692 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA5048999 COSM1462270 rs774077967 |
692 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1204141309 CA373365149 |
694 | E>G | No |
ClinGen TOPMed |
|
CA5048997 rs762426705 |
696 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769082652 CA5048995 |
698 | L>F | No |
ClinGen ExAC gnomAD |
|
CA373364913 rs879130999 |
701 | Q>H | No |
ClinGen gnomAD |
|
rs779174630 CA5048990 |
702 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746097112 CA5048991 |
702 | V>I | No |
ClinGen ExAC gnomAD |
|
CA5048988 rs749380014 |
705 | A>T | No |
ClinGen ExAC gnomAD |
|
rs371303515 CA373364695 |
708 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1407678372 CA373364513 |
714 | S>C | No |
ClinGen gnomAD |
|
CA5048956 rs768049106 |
726 | T>A | No |
ClinGen ExAC gnomAD |
|
CA5048955 rs760011688 |
726 | T>K | No |
ClinGen ExAC gnomAD |
|
rs774716881 CA5048954 |
727 | I>V | No |
ClinGen ExAC gnomAD |
|
CA373362017 rs1563944800 |
729 | S>L | No |
ClinGen Ensembl |
|
CA373361984 rs1563944793 |
731 | V>A | No |
ClinGen Ensembl |
|
CA5048952 rs763101851 |
733 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1382468166 CA373361829 |
735 | Q>R | No |
ClinGen gnomAD |
|
rs1279662929 CA373361769 |
737 | V>A | No |
ClinGen Ensembl |
|
rs1367536138 CA373361713 |
739 | A>T | No |
ClinGen TOPMed |
|
rs769907194 CA5048950 |
741 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA373361625 rs1302498866 |
742 | L>Q | No |
ClinGen TOPMed |
|
CA373361477 rs1587986067 |
747 | V>G | No |
ClinGen Ensembl |
|
CA5048947 rs768737732 |
747 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5048946 rs746904145 |
749 | G>S | No |
ClinGen ExAC gnomAD |
|
CA5048945 rs779717733 |
751 | V>M | No |
ClinGen ExAC gnomAD |
|
CA373361384 rs1587986060 |
752 | S>Y | No |
ClinGen Ensembl |
|
rs745636689 CA5048943 |
754 | S>F | No |
ClinGen ExAC gnomAD |
|
CA373361332 rs1185161419 |
755 | Q>* | No |
ClinGen gnomAD |
|
rs753392385 CA5048940 |
758 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1038152375 CA192747091 |
759 | E>D | No |
ClinGen TOPMed |
|
CA373361149 rs1247278822 |
761 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs755505606 CA5048938 |
765 | R>G | No |
ClinGen ExAC gnomAD |
|
CA5048937 rs752009662 |
765 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4007187 CA373361031 rs1587986027 |
767 | V>G | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs773420949 CA5048935 |
767 | V>I | No |
ClinGen ExAC gnomAD |
|
rs773420949 CA5048934 |
767 | V>L | No |
ClinGen ExAC gnomAD |
|
CA5048933 rs762079887 |
769 | A>G | No |
ClinGen ExAC gnomAD |
|
CA5048932 rs762079887 |
769 | A>V | No |
ClinGen ExAC gnomAD |
|
rs776883097 CA5048931 |
770 | A>P | No |
ClinGen ExAC gnomAD |
|
CA373360945 rs1360617250 |
770 | A>V | No |
ClinGen gnomAD |
|
rs1429308563 CA373360812 |
777 | A>T | No |
ClinGen gnomAD |
|
rs775555825 CA5048928 |
779 | N>S | No |
ClinGen ExAC gnomAD |
|
rs745713204 CA5048926 |
783 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA5048924 rs374670309 |
785 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5048925 rs778547092 |
785 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373360618 rs1166077399 |
787 | A>T | No |
ClinGen gnomAD |
|
rs1476373198 CA373360582 |
788 | H>Q | No |
ClinGen gnomAD |
|
CA373360522 rs1197485279 |
791 | G>R | No |
ClinGen gnomAD |
|
rs908301461 CA192747090 |
792 | A>S | No |
ClinGen TOPMed |
|
CA373360480 rs755683252 |
794 | P>A | No |
ClinGen ExAC gnomAD |
|
rs755683252 CA5048921 |
794 | P>S | No |
ClinGen ExAC gnomAD |
|
CA192747089 rs937744830 |
795 | A>T | No |
ClinGen Ensembl |
|
rs1439742550 CA373360388 |
797 | R>C | No |
ClinGen gnomAD |
|
COSM41037 rs142231892 CA5048919 |
797 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1490611480 CA373360363 |
798 | Y>H | No |
ClinGen gnomAD |
|
CA373360286 rs1213295190 |
801 | A>T | No |
ClinGen gnomAD |
|
CA5048915 rs762131166 |
802 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1162815949 CA373360229 |
804 | T>A | No |
ClinGen TOPMed |
|
rs1196182420 CA373360224 |
804 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs754056540 CA192747088 |
806 | L>V | No |
ClinGen ExAC gnomAD |
|
rs147636996 CA5048911 |
808 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368558976 CA192747087 |
812 | I>L | No |
ClinGen ESP TOPMed |
|
rs759339086 CA5048909 |
815 | S>F | No |
ClinGen ExAC gnomAD |
|
CA373359860 rs1316740682 |
816 | M>V | No |
ClinGen TOPMed |
|
CA373359472 rs1337328248 |
822 | M>I | No |
ClinGen gnomAD |
|
rs778231196 CA5048878 |
822 | M>V | No |
ClinGen ExAC gnomAD |
|
CA192747020 rs1026172808 |
824 | R>* | No |
ClinGen gnomAD |
|
rs776552609 CA192747019 |
824 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048877 rs776552609 |
824 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1400984372 CA373359399 |
826 | A>S | No |
ClinGen gnomAD |
|
rs376004331 CA192747018 |
827 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
COSM247844 rs372987518 CA5048876 |
827 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA373359369 rs1443177380 |
828 | I>L | No |
ClinGen TOPMed gnomAD |
|
CA373359360 rs1245432359 |
828 | I>S | No |
ClinGen gnomAD |
|
CA373359373 rs1443177380 |
828 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1587985411 CA373359346 |
829 | L>R | No |
ClinGen Ensembl |
|
rs145269012 CA5048875 |
838 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1218171844 CA373359092 |
846 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs1218171844 CA373359094 |
846 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs755083449 CA5048874 |
847 | E>G | No |
ClinGen ExAC gnomAD |
|
CA373359084 rs1488866886 |
847 | E>K | No |
ClinGen TOPMed |
|
rs766355449 CA5048872 |
848 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1361335828 CA373359049 |
848 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA5048871 rs762831961 |
849 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1381639969 CA373358990 |
852 | N>K | No |
ClinGen gnomAD |
|
CA373358993 rs1481649683 |
852 | N>S | No |
ClinGen TOPMed |
|
CA373358995 rs1481649683 |
852 | N>T | No |
ClinGen TOPMed |
|
CA5048869 rs746443647 |
854 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761541158 CA5048868 |
854 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373358950 rs1364503993 |
855 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA192747016 rs369551109 |
857 | L>F | No |
ClinGen Ensembl |
|
rs1161284535 CA373358914 |
858 | S>N | No |
ClinGen gnomAD |
|
CA373358905 rs1423122256 |
858 | S>R | No |
ClinGen gnomAD |
|
rs1387532351 CA373358871 |
861 | K>R | No |
ClinGen gnomAD |
|
rs776205158 CA5048867 |
862 | I>F | No |
ClinGen ExAC gnomAD |
|
rs1361248549 CA373358742 |
870 | M>I | No |
ClinGen TOPMed |
|
rs960348930 CA192747015 |
873 | A>S | No |
ClinGen Ensembl |
|
CA373358692 rs1587985325 |
874 | A>G | No |
ClinGen Ensembl |
|
CA373358686 rs1587985322 |
875 | K>Q | No |
ClinGen Ensembl |
|
rs760323305 CA373357260 |
879 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760323305 CA5048848 |
879 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1587984639 CA373357247 |
880 | H>P | No |
ClinGen Ensembl |
|
CA373357180 rs1194967300 |
884 | E>K | No |
ClinGen gnomAD |
|
CA5048847 rs775170088 |
885 | E>D | No |
ClinGen ExAC gnomAD |
|
CA373357113 rs1199251456 |
887 | Q>R | No |
ClinGen gnomAD |
|
CA373357091 rs1322179253 |
888 | Q>R | No |
ClinGen gnomAD |
|
CA5048844 rs540431162 |
889 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5048846 rs749822890 |
889 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770307539 CA373357055 |
891 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192746879 rs1044604188 |
891 | R>Q | No |
ClinGen Ensembl |
|
CA5048843 rs770307539 |
891 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373357009 rs1587984608 |
893 | A>G | No |
ClinGen Ensembl |
|
CA373357020 rs1394871946 |
893 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1466649405 CA373356941 |
898 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA373356940 rs1405406696 |
898 | R>H | No |
ClinGen gnomAD |
|
rs1405406696 CA373356938 |
898 | R>L | No |
ClinGen gnomAD |
|
CA5048840 rs755189562 |
899 | M>I | No |
ClinGen ExAC gnomAD |
|
CA373356931 rs755189562 |
899 | M>I | No |
ClinGen ExAC gnomAD |
|
rs781573640 CA373356937 |
899 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781573640 CA5048841 |
899 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048839 rs747168571 |
900 | A>V | No |
ClinGen ExAC |
|
rs1378368988 CA373356912 |
901 | T>I | No |
ClinGen gnomAD |
|
CA373356888 rs1181440375 |
903 | A>V | No |
ClinGen gnomAD |
|
CA192746878 rs893252064 |
905 | A>S | No |
ClinGen TOPMed |
|
rs1467184007 CA373356864 |
905 | A>V | No |
ClinGen TOPMed |
|
rs750498641 CA373356808 |
909 | I>L | No |
ClinGen ExAC gnomAD |
|
CA373356789 rs1179143398 |
909 | I>N | No |
ClinGen gnomAD |
|
rs750498641 COSM326680 CA5048836 |
909 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA5048835 rs778755374 |
910 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1470483454 CA373356757 |
911 | K>E | No |
ClinGen gnomAD |
|
CA5048833 rs753595858 |
915 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA5048832 rs574795385 |
916 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5048831 rs760405428 |
916 | R>H | No |
ClinGen ExAC gnomAD |
|
rs759181283 CA5048828 |
918 | E>D | No |
ClinGen ExAC gnomAD |
|
rs369955917 CA192746865 |
920 | A>T | No |
ClinGen Ensembl |
|
CA373356243 rs1383216842 |
927 | S>L | No |
ClinGen gnomAD |
|
rs752531999 CA5048812 |
929 | T>I | No |
ClinGen ExAC gnomAD |
|
CA373356206 rs1372468059 |
930 | Q>* | No |
ClinGen gnomAD |
|
CA373356204 rs1333211327 |
930 | Q>P | No |
ClinGen TOPMed |
|
rs759219436 CA5048810 |
931 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373356188 rs1263375797 |
931 | T>I | No |
ClinGen gnomAD |
|
CA373356190 rs1263375797 |
931 | T>N | No |
ClinGen gnomAD |
|
CA373356195 rs759219436 |
931 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048808 rs373794155 |
933 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1357611485 CA373356127 |
936 | Q>* | No |
ClinGen gnomAD |
|
CA5048806 rs777255391 |
936 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1587984374 CA373356110 |
937 | H>P | No |
ClinGen Ensembl |
|
CA373356099 rs761068682 |
938 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048804 rs761068682 |
938 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373356091 rs1587984362 |
938 | A>V | No |
ClinGen Ensembl |
|
CA373356080 rs1279065416 |
939 | A>V | No |
ClinGen gnomAD |
|
rs139655425 CA5048803 |
941 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373356060 rs1587984358 |
941 | T>P | No |
ClinGen Ensembl |
|
CA5048802 rs370001042 |
942 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048801 rs370001042 |
942 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048800 rs370001042 |
942 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373356051 rs1325238036 |
942 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs879138645 CA192746864 |
943 | K>T | No |
ClinGen Ensembl |
|
rs570598486 CA5048797 |
947 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373355979 rs1479227688 |
948 | P>S | No |
ClinGen gnomAD |
|
CA373355957 rs1224162595 |
950 | P>A | No |
ClinGen gnomAD |
|
CA373355952 rs1415524488 |
950 | P>L | No |
ClinGen TOPMed |
|
rs1587984319 CA373355914 |
953 | V>G | No |
ClinGen Ensembl |
|
CA192746862 rs770145763 |
956 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA373355805 rs1280996926 |
958 | A>T | No |
ClinGen gnomAD |
|
CA373355774 rs1220095141 |
961 | E>K | No |
ClinGen gnomAD |
|
rs1349639963 CA373355751 |
962 | Q>E | No |
ClinGen gnomAD |
|
rs781151911 CA5048777 |
968 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1336004833 CA373355590 |
969 | G>V | No |
ClinGen gnomAD |
|
CA5048775 rs371183695 |
970 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048774 rs779798775 |
971 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144500833 CA5048773 |
973 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
CA373355494 rs1405385859 |
974 | Q>K | No |
ClinGen gnomAD |
|
CA192746853 rs961439767 |
974 | Q>R | No |
ClinGen gnomAD |
|
rs1433488694 CA373355469 |
975 | A>T | No |
ClinGen gnomAD |
|
CA5048771 rs568812149 |
977 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs756617846 CA5048770 |
979 | S>R | No |
ClinGen ExAC gnomAD |
|
rs756617846 CA373355348 |
979 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1460030272 CA373355334 |
980 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1460030272 CA373355325 |
980 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs767995679 CA5048768 |
982 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192746852 rs13298317 |
982 | A>V | No |
ClinGen Ensembl |
|
CA373355190 rs1380719240 |
983 | Q>R | No |
ClinGen TOPMed |
|
rs760008336 CA5048767 |
985 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs13298307 CA192746850 |
986 | L>F | No |
ClinGen Ensembl |
|
CA373355097 rs1282435442 |
987 | I>T | No |
ClinGen gnomAD |
|
CA373355069 rs1241962459 |
988 | A>V | No |
ClinGen gnomAD |
|
rs1354231934 CA373355062 |
989 | A>S | No |
ClinGen gnomAD |
|
CA373355048 rs1322940122 |
989 | A>V | No |
ClinGen gnomAD |
|
rs1314277226 CA373354968 |
992 | S>G | No |
ClinGen gnomAD |
|
CA5048766 rs774546215 |
994 | L>R | No |
ClinGen ExAC gnomAD |
|
CA373354883 rs1380670159 |
995 | Q>E | No |
ClinGen gnomAD |
|
CA5048733 rs748842975 |
1000 | M>I | No |
ClinGen ExAC gnomAD |
|
CA373354644 rs748842975 |
1000 | M>I | No |
ClinGen ExAC gnomAD |
|
rs777095203 CA192746831 |
1001 | V>L | No |
ClinGen ExAC gnomAD |
|
rs777095203 CA5048732 |
1001 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1280976729 CA373354618 |
1002 | A>T | No |
ClinGen gnomAD |
|
CA5048731 rs755516701 |
1004 | A>P | No |
ClinGen ExAC gnomAD |
|
rs1370248431 CA373354565 |
1004 | A>V | No |
ClinGen gnomAD |
|
CA373354540 rs1294607366 |
1006 | A>T | No |
ClinGen gnomAD |
|
CA192746830 rs1031625832 |
1007 | S>L | No |
ClinGen TOPMed |
|
rs1461955960 CA373354516 |
1008 | V>M | No |
ClinGen gnomAD |
|
rs1398782590 CA373354489 |
1010 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA5048730 rs149680408 |
1010 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758760333 CA5048728 |
1011 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1434677114 CA373354404 |
1014 | Q>* | No |
ClinGen gnomAD |
|
rs1267861356 CA373354373 |
1015 | A>P | No |
ClinGen gnomAD |
|
rs1231036875 CA373354270 |
1021 | S>G | No |
ClinGen TOPMed |
|
CA192746829 rs907073777 |
1024 | A>T | No |
ClinGen TOPMed |
|
CA5048724 rs576948451 |
1030 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs764011686 CA5048723 |
1030 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048721 rs373243370 |
1032 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373353942 rs373243370 |
1032 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1587983973 CA373353934 |
1033 | E>K | No |
ClinGen Ensembl |
|
rs1302365624 CA373353892 |
1035 | R>W | No |
ClinGen gnomAD |
|
CA373353831 rs1391200571 |
1036 | T>M | No |
ClinGen gnomAD |
|
CA373353813 rs1333958064 |
1037 | A>V | No |
ClinGen gnomAD |
|
rs1425976947 CA373353802 |
1038 | A>G | No |
ClinGen TOPMed |
|
CA373353785 rs1403198566 |
1039 | Q>* | No |
ClinGen gnomAD |
|
CA373353633 rs1381992219 |
1041 | A>S | No |
ClinGen gnomAD |
|
CA5048701 rs759417184 |
1045 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs192874482 CA5048700 |
1046 | G>E | No |
ClinGen 1000Genomes ExAC |
|
rs1366668030 CA373353399 |
1050 | M>T | No |
ClinGen gnomAD |
|
CA5048699 rs139378393 |
1051 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1188951923 CA373353370 |
1051 | D>G | No |
ClinGen gnomAD |
|
CA373353332 rs1222833782 |
1053 | A>T | No |
ClinGen gnomAD |
|
rs762725840 CA373353290 |
1056 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048698 rs762725840 |
1056 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192746820 rs371395463 |
1059 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
rs747661964 CA5048695 |
1061 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1356208811 CA373353068 |
1063 | D>E | No |
ClinGen gnomAD |
|
rs772738984 CA5048693 |
1067 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373352867 rs1398426596 |
1072 | R>* | No |
ClinGen gnomAD |
|
CA5048690 rs757752315 |
1072 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373352824 rs1423783109 |
1074 | G>V | No |
ClinGen gnomAD |
|
CA192746819 rs1019021083 |
1075 | K>Q | No |
ClinGen Ensembl |
|
rs1007607956 CA192746818 |
1075 | K>R | No |
ClinGen Ensembl |
|
rs887606125 CA192746817 |
1076 | L>F | No |
ClinGen TOPMed |
|
rs1219244522 CA373352805 |
1076 | L>P | No |
ClinGen TOPMed |
|
CA373352768 rs1388405468 |
1078 | P>L | No |
ClinGen gnomAD |
|
rs1372050591 CA373352671 |
1083 | T>I | No |
ClinGen gnomAD |
|
rs1372050591 CA373352672 |
1083 | T>R | No |
ClinGen gnomAD |
|
rs1231100687 CA373351324 |
1085 | E>K | No |
ClinGen TOPMed |
|
rs1231100687 CA373351320 |
1085 | E>Q | No |
ClinGen TOPMed |
|
rs768221303 CA192746698 |
1086 | K>N | No |
ClinGen ExAC gnomAD |
|
CA5048672 rs768221303 |
1086 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1245395603 CA373351292 |
1086 | K>R | No |
ClinGen gnomAD |
|
CA373351268 rs1307616576 |
1088 | T>A | No |
ClinGen TOPMed |
|
CA5048671 rs777181798 |
1088 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1008642332 CA192746694 |
1093 | N>D | No |
ClinGen TOPMed |
|
CA192746691 rs534210542 |
1095 | T>N | No |
ClinGen Ensembl |
|
rs771534168 CA5048669 |
1098 | V>M | No |
ClinGen ExAC gnomAD |
|
CA5048668 rs749659924 |
1099 | S>N | No |
ClinGen ExAC |
|
rs769936744 CA373350879 |
1103 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769936744 CA5048666 |
1103 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048665 rs748333389 |
1107 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1342582049 CA373350752 |
1108 | E>G | No |
ClinGen gnomAD |
|
CA5048663 rs755121405 |
1112 | G>D | No |
ClinGen ExAC gnomAD |
|
CA373350648 rs1436966490 |
1112 | G>S | No |
ClinGen gnomAD |
|
rs879217287 CA192746679 |
1115 | N>D | No |
ClinGen Ensembl |
|
CA5048661 rs780020416 |
1117 | A>T | No |
ClinGen ExAC gnomAD |
|
CA373350247 rs1421906894 |
1119 | I>V | No |
ClinGen gnomAD |
|
rs1164759348 CA373350191 |
1120 | A>V | No |
ClinGen gnomAD |
|
CA373350126 rs763888196 |
1122 | R>L | No |
ClinGen ExAC gnomAD |
|
CA5048638 rs763888196 |
1122 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1563943058 CA373350075 |
1124 | V>M | No |
ClinGen Ensembl |
|
rs766982396 CA373349978 |
1128 | L>M | No |
ClinGen ExAC gnomAD |
|
CA5048634 rs763380440 |
1128 | L>R | No |
ClinGen ExAC |
|
rs766982396 CA5048635 |
1128 | L>V | No |
ClinGen ExAC gnomAD |
|
rs765634282 CA5048632 |
1129 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773838436 CA5048633 |
1129 | R>W | No |
ClinGen ExAC gnomAD |
|
CA5048631 rs762217867 |
1130 | S>A | No |
ClinGen ExAC gnomAD |
|
CA373349901 rs1563943042 |
1131 | L>P | No |
ClinGen Ensembl |
|
CA192746581 rs986261609 |
1132 | A>T | No |
ClinGen Ensembl |
|
CA5048629 rs146392528 |
1135 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM267579 CA5048628 rs146392528 |
1135 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1309499319 CA373349684 |
1137 | G>A | No |
ClinGen gnomAD |
|
rs1217514071 CA373349677 |
1138 | V>I | No |
ClinGen gnomAD |
|
CA5048626 rs772253612 |
1139 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1402219711 CA373349636 |
1140 | A>E | No |
ClinGen gnomAD |
|
rs1266285255 CA373349640 |
1140 | A>S | No |
ClinGen TOPMed |
|
rs1293439398 CA373349625 |
1141 | L>Q | No |
ClinGen gnomAD |
|
rs778948183 CA5048624 |
1142 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373349513 rs755829722 |
1145 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048620 rs755829722 |
1145 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048619 rs142185225 |
1146 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142185225 CA5048618 |
1146 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA192746558 rs982163521 |
1147 | V>M | No |
ClinGen TOPMed |
|
rs1428862216 CA373349385 |
1150 | I>V | No |
ClinGen gnomAD |
|
CA373349303 rs1189271381 |
1152 | L>F | No |
ClinGen gnomAD |
|
CA5048616 rs373006458 |
1152 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
rs776984443 CA5048613 |
1153 | D>G | No |
ClinGen ExAC gnomAD |
|
CA5048615 rs765799488 |
1153 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048614 rs776984443 |
1153 | D>V | No |
ClinGen ExAC gnomAD |
|
rs764386370 CA373349228 |
1154 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764386370 CA5048612 |
1154 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373349185 rs1324635450 |
1156 | S>N | No |
ClinGen TOPMed |
|
rs775846249 CA373349169 |
1157 | D>N | No |
ClinGen ExAC gnomAD |
|
CA5048610 rs775846249 |
1157 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1217842362 CA373349059 |
1160 | D>G | No |
ClinGen gnomAD |
|
rs1300974193 CA373349067 |
1160 | D>N | No |
ClinGen gnomAD |
|
CA373349048 rs1327233576 |
1161 | K>T | No |
ClinGen gnomAD |
|
CA5048608 rs143289726 |
1162 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
CA373349005 rs1398253386 |
1163 | S>N | No |
ClinGen gnomAD |
|
CA5048607 rs149157349 |
1164 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149157349 CA5048606 |
1164 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA373348960 rs1434972077 |
1165 | L>F | No |
ClinGen TOPMed |
|
CA373348944 rs1462643556 |
1166 | I>L | No |
ClinGen gnomAD |
|
CA192746535 rs958488647 |
1166 | I>M | No |
ClinGen Ensembl |
|
CA5048605 rs373157684 |
1166 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5048604 rs777721084 |
1168 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373348867 rs756028633 |
1168 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777721084 CA373348882 |
1168 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048603 rs756028633 |
1168 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs552100458 CA5048602 |
1169 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs780950471 CA5048601 |
1171 | K>R | No |
ClinGen ExAC |
|
CA5048599 rs751116301 |
1172 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048600 rs754542433 |
1172 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765740689 CA5048598 |
1173 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373348763 rs765740689 |
1173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373348755 rs1482688406 |
1173 | A>V | No |
ClinGen gnomAD |
|
rs878857179 CA192746523 |
1174 | G>D | No |
ClinGen gnomAD |
|
CA373348663 rs1233237980 |
1178 | D>E | No |
ClinGen TOPMed |
|
CA373348669 rs1208447452 |
1178 | D>H | No |
ClinGen gnomAD |
|
CA373348668 rs1208447452 |
1178 | D>N | No |
ClinGen gnomAD |
|
rs757776168 CA5048597 |
1179 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1240123488 CA373348656 |
1180 | E>K | No |
ClinGen gnomAD |
|
rs754402540 CA373348634 |
1181 | S>I | No |
ClinGen ExAC gnomAD |
|
CA5048596 rs754402540 |
1181 | S>N | No |
ClinGen ExAC gnomAD |
|
CA373348579 rs761066476 |
1184 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048594 rs761066476 |
1184 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs528772099 CA5048595 |
1184 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5048593 rs560048567 |
1185 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1467381961 CA373348554 |
1186 | A>T | No |
ClinGen gnomAD |
|
rs1157854224 CA373348506 |
1187 | Q>* | No |
ClinGen gnomAD |
|
CA5048592 rs767799790 |
1187 | Q>P | No |
ClinGen ExAC |
|
CA373348284 rs1436289480 |
1188 | V>E | No |
ClinGen TOPMed |
|
rs1012448272 CA192746356 |
1188 | V>M | No |
ClinGen TOPMed |
|
CA373348200 rs1587982645 |
1192 | V>L | No |
ClinGen Ensembl |
|
CA192746354 rs752941688 |
1193 | T>I | No |
ClinGen TOPMed |
|
rs1264469439 CA373348145 |
1194 | Q>R | No |
ClinGen gnomAD |
|
rs1355697480 CA373348094 |
1195 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs1355697480 CA373348098 |
1195 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs550588728 CA192746352 |
1196 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs141520624 CA5048574 |
1198 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048572 rs765433665 |
1198 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048573 rs765433665 |
1198 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048571 rs759816391 |
1200 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1397908505 CA373347960 |
1201 | S>I | No |
ClinGen gnomAD |
|
CA373347887 rs1318866452 COSM753495 |
1204 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs763176903 CA5048568 |
1207 | R>H | No |
ClinGen ExAC gnomAD |
|
CA192746337 rs879081024 |
1208 | D>N | No |
ClinGen gnomAD |
|
CA5048563 rs202140727 |
1214 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373347387 rs1194387777 |
1215 | A>V | No |
ClinGen gnomAD |
|
rs899409166 CA192746327 |
1217 | G>R | No |
ClinGen TOPMed |
|
rs376939605 CA5048561 |
1219 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048560 rs771688185 |
1220 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048559 rs745401805 |
1222 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs778350293 CA5048558 |
1223 | L>F | No |
ClinGen ExAC gnomAD |
|
CA5048557 rs756644086 |
1223 | L>P | No |
ClinGen ExAC gnomAD |
|
CA192746314 rs373167883 |
1225 | S>G | No |
ClinGen ESP TOPMed |
|
CA5048554 VAR_023751 rs2295795 |
1227 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781714922 CA5048555 |
1227 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs185407414 CA5048533 |
1230 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1282133449 CA373346655 |
1232 | T>P | No |
ClinGen TOPMed gnomAD |
|
rs1426133857 CA373346617 |
1233 | G>E | No |
ClinGen gnomAD |
|
CA5048531 rs151188301 |
1234 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
CA5048530 rs199987514 |
1238 | A>S | No |
ClinGen ExAC gnomAD |
|
rs753934231 CA5048529 |
1240 | S>G | No |
ClinGen ExAC gnomAD |
|
CA373346243 rs1283216229 |
1241 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs770655381 CA192746226 COSM455920 |
1241 | R>W | endometrium breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1357010116 CA373346187 |
1243 | N>T | No |
ClinGen gnomAD |
|
CA373346123 rs1315100473 |
1246 | A>S | No |
ClinGen gnomAD |
|
CA373346105 rs1435742688 |
1247 | A>T | No |
ClinGen gnomAD |
|
CA373346026 rs1587982278 |
1251 | Q>R | No |
ClinGen Ensembl |
|
CA373346010 rs1587982274 |
1252 | A>P | No |
ClinGen Ensembl |
|
rs763958290 CA5048528 |
1252 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1162757846 CA373345885 |
1257 | V>G | No |
ClinGen gnomAD |
|
CA373345895 rs1408864952 |
1257 | V>M | No |
ClinGen gnomAD |
|
CA5048527 rs760617650 |
1258 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1259877136 CA373345835 |
1260 | S>C | No |
ClinGen gnomAD |
|
CA373345820 rs775265211 |
1261 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192746218 rs936554876 |
1262 | G>A | No |
ClinGen TOPMed |
|
rs1487880653 CA373345805 |
1262 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA192746215 rs556141342 |
1263 | T>A | No |
ClinGen 1000Genomes |
|
CA373345764 rs1216294864 |
1263 | T>N | No |
ClinGen TOPMed |
|
CA373345783 rs556141342 |
1263 | T>P | No |
ClinGen 1000Genomes |
|
rs759312960 CA5048524 |
1265 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1317471415 CA373345718 |
1265 | Q>R | No |
ClinGen gnomAD |
|
CA5048523 rs536145683 |
1266 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA373345665 rs1226123457 |
1267 | L>V | No |
ClinGen gnomAD |
|
rs770585429 CA373345247 |
1269 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048522 rs770585429 |
1269 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048521 rs748796421 |
1272 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048519 COSM1462266 rs769049864 |
1273 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA5048518 rs747462166 |
1273 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1433438508 CA373345114 |
1275 | G>R | No |
ClinGen gnomAD |
|
rs1322892463 CA373344995 |
1279 | S>G | No |
ClinGen gnomAD |
|
CA5048516 rs772636531 |
1280 | T>A | No |
ClinGen ExAC gnomAD |
|
CA5048515 rs746207333 |
1281 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1191127335 CA373344868 |
1283 | E>D | No |
ClinGen TOPMed |
|
rs1165980732 CA373344836 |
1285 | G>S | No |
ClinGen gnomAD |
|
CA373344771 rs1429453883 |
1287 | E>Q | No |
ClinGen TOPMed |
|
rs757448438 CA5048513 |
1289 | A>G | No |
ClinGen ExAC gnomAD |
|
CA5048512 rs753891770 |
1290 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048511 rs777839026 |
1291 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA5048510 rs34033956 |
1293 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs986942368 CA192777181 |
1296 | E>K | No |
ClinGen TOPMed |
|
CA192777171 rs201216076 |
1297 | D>Y | No |
ClinGen 1000Genomes |
|
rs773678140 CA192777156 |
1298 | R>G | No |
ClinGen Ensembl |
|
CA373397478 rs189605894 |
1298 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs189605894 CA5048491 |
1298 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA192777133 rs770469558 |
1299 | A>T | No |
ClinGen Ensembl |
|
CA373397473 rs1479414054 |
1299 | A>V | No |
ClinGen gnomAD |
|
rs1432871328 CA373397470 |
1300 | Q>* | No |
ClinGen TOPMed |
|
CA5048490 rs371857243 |
1300 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA192777122 rs371857243 |
1300 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA192777111 rs201783008 |
1307 | G>D | No |
ClinGen 1000Genomes |
|
rs1308491075 CA373397425 |
1307 | G>S | No |
ClinGen gnomAD |
|
CA192777105 rs878917589 |
1309 | S>C | No |
ClinGen TOPMed |
|
CA373397407 rs766141848 |
1310 | M>L | No |
ClinGen ExAC gnomAD |
|
CA5048487 rs766141848 |
1310 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1373869694 CA373397393 |
1312 | S>P | No |
ClinGen gnomAD |
|
CA5048486 rs762642967 |
1313 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048485 rs750156961 |
1313 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1431766736 CA373397355 |
1318 | A>S | No |
ClinGen Ensembl |
|
CA373397350 rs1371442368 |
1319 | A>T | No |
ClinGen gnomAD |
|
rs761462874 CA5048483 |
1322 | L>R | No |
ClinGen ExAC gnomAD |
|
CA192777050 rs1028376828 |
1323 | S>Y | No |
ClinGen TOPMed |
|
CA5048481 rs185474328 |
1324 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs370754191 CA5048482 |
1324 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373397306 rs1327687675 |
1325 | D>E | No |
ClinGen gnomAD |
|
CA5048477 rs749611041 |
1326 | P>R | No |
ClinGen ExAC gnomAD |
|
CA5048478 rs771380800 |
1326 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775197727 CA192777014 |
1327 | A>V | No |
ClinGen Ensembl |
|
rs983546599 CA192777007 |
1328 | A>D | No |
ClinGen Ensembl |
|
rs1563942205 CA373397258 |
1333 | S>N | No |
ClinGen Ensembl |
|
CA373397254 rs1252194742 |
1333 | S>R | No |
ClinGen gnomAD |
|
rs1482739223 CA373397211 |
1337 | A>E | No |
ClinGen TOPMed gnomAD |
|
CA373397212 rs1482739223 |
1337 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1376091516 CA373397200 |
1338 | A>G | No |
ClinGen TOPMed |
|
CA192776810 rs974374325 |
1341 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1258790517 CA373397083 |
1345 | S>N | No |
ClinGen gnomAD |
|
rs1205108939 CA373397056 |
1347 | N>S | No |
ClinGen gnomAD |
|
CA373396985 rs1435933463 |
1351 | T>I | No |
ClinGen gnomAD |
|
rs763423059 CA5048458 |
1352 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144937466 CA5048459 |
1352 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048457 rs773398422 |
1353 | C>S | No |
ClinGen ExAC gnomAD |
|
rs748313420 CA5048455 |
1356 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs776822293 CA5048454 |
1358 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1297381787 CA373396847 |
1359 | G>D | No |
ClinGen gnomAD |
|
rs941771913 CA192776750 |
1359 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1257016674 CA373396763 |
1364 | D>G | No |
ClinGen TOPMed |
|
CA192776721 rs746908388 |
1366 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048448 rs746908388 |
1366 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1229370 rs1476377555 CA373396739 |
1368 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA373396740 COSM1462264 rs1166692117 |
1368 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA5048446 rs753598417 |
1371 | E>D | No |
ClinGen ExAC gnomAD |
|
CA5048426 rs752281502 |
1372 | T>M | No |
ClinGen ExAC gnomAD |
|
CA373396671 rs1341264893 |
1373 | V>F | No |
ClinGen gnomAD |
|
rs752783993 CA5048424 |
1374 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs556004234 CA192776630 |
1374 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA5048421 rs762215768 |
1379 | N>S | No |
ClinGen ExAC gnomAD |
|
CA373396576 rs1450025514 |
1383 | P>L | No |
ClinGen TOPMed |
|
CA5048418 rs576683799 COSM3664332 |
1385 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1587981686 CA373396539 |
1387 | M>I | No |
ClinGen Ensembl |
|
rs376371537 CA192776530 |
1387 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs775656107 CA5048417 |
1387 | M>V | No |
ClinGen ExAC gnomAD |
|
CA192776525 rs997375582 |
1391 | G>D | No |
ClinGen gnomAD |
|
rs997375582 CA373396498 |
1391 | G>V | No |
ClinGen gnomAD |
|
rs1454819324 CA373396465 |
1395 | S>G | No |
ClinGen gnomAD |
|
rs1587981671 CA373396444 |
1396 | V>I | No |
ClinGen Ensembl |
|
CA373396432 rs1232490412 |
1397 | M>L | No |
ClinGen gnomAD |
|
rs146395635 CA192776493 |
1398 | E>K | No |
ClinGen ESP |
|
CA192776486 rs1013376748 |
1399 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA192776473 rs941890715 |
1401 | K>E | No |
ClinGen gnomAD |
|
CA5048398 rs142197660 |
1402 | V>M | No |
ClinGen ESP ExAC |
|
CA5048395 rs762916118 |
1405 | E>D | No |
ClinGen ExAC gnomAD |
|
CA5048396 rs766448496 |
1405 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192776328 rs926910005 |
1407 | M>V | No |
ClinGen Ensembl |
|
CA373396080 rs1240130259 |
1414 | A>V | No |
ClinGen TOPMed |
|
CA5048394 rs773071664 |
1415 | K>N | No |
ClinGen ExAC gnomAD |
|
CA373396069 rs1292370917 |
1415 | K>R | No |
ClinGen gnomAD |
|
CA5048392 rs747944920 |
1417 | G>E | No |
ClinGen ExAC gnomAD |
|
CA373396043 rs1315216327 COSM753496 |
1417 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA373396021 rs1423982729 |
1418 | N>S | No |
ClinGen TOPMed |
|
CA373396019 rs1423982729 |
1418 | N>T | No |
ClinGen TOPMed |
|
CA192776291 rs988162039 |
1419 | L>V | No |
ClinGen Ensembl |
|
rs570805918 CA5048390 |
1421 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs570805918 CA5048391 |
1421 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5048388 rs779474454 |
1424 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779474454 CA5048389 |
1424 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373395859 rs1402579742 |
1428 | T>R | No |
ClinGen gnomAD |
|
CA373395838 rs1412969165 |
1430 | S>T | No |
ClinGen gnomAD |
|
CA373395830 rs1156701248 |
1431 | K>E | No |
ClinGen Ensembl |
|
rs757778441 CA5048387 |
1431 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048386 rs749855173 |
1432 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1419695028 CA373395787 |
1433 | L>V | No |
ClinGen gnomAD |
|
CA192776266 rs996842209 |
1434 | C>F | No |
ClinGen Ensembl |
|
CA373395767 rs1029600166 |
1434 | C>G | No |
ClinGen gnomAD |
|
CA192776270 rs1029600166 |
1434 | C>R | No |
ClinGen gnomAD |
|
rs1240344668 CA373395705 |
1438 | E>K | No |
ClinGen gnomAD |
|
CA373395640 rs1458230521 |
1441 | A>V | No |
ClinGen TOPMed |
|
CA373394462 rs199732295 |
1452 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
CA192774493 rs199732295 |
1452 | P>R | No |
ClinGen 1000Genomes gnomAD |
|
rs539650286 CA5048359 |
1453 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA192774483 rs539650286 |
1453 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373394430 rs1171179735 |
1455 | Q>H | No |
ClinGen gnomAD |
|
CA192774481 rs956451049 |
1457 | G>R | No |
ClinGen Ensembl |
|
CA5048352 rs771686282 |
1468 | A>D | No |
ClinGen ExAC gnomAD |
|
CA192774456 rs771686282 |
1468 | A>V | No |
ClinGen ExAC gnomAD |
|
rs758988730 CA5048351 |
1469 | R>C | No |
ClinGen ExAC gnomAD |
|
CA373394136 rs758988730 |
1469 | R>G | No |
ClinGen ExAC gnomAD |
|
rs773870967 CA5048349 |
1469 | R>H | No |
ClinGen ExAC TOPMed |
|
rs148120870 CA5048348 |
1470 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1302104297 CA373394082 |
1471 | N>H | No |
ClinGen gnomAD |
|
CA5048347 rs368416717 |
1473 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373393945 rs1563940981 |
1476 | M>T | No |
ClinGen Ensembl |
|
rs781761015 CA5048346 |
1478 | C>F | No |
ClinGen ExAC gnomAD |
|
CA373393889 rs1587980004 |
1480 | S>N | No |
ClinGen Ensembl |
|
CA5048344 rs375040162 |
1484 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048342 rs371110557 |
1484 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375040162 CA5048343 |
1484 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs750856015 CA192774384 |
1486 | C>R | No |
ClinGen TOPMed |
|
rs1157769681 CA373393751 COSM95343 |
1489 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA5048341 rs750475849 |
1489 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048322 rs143009347 |
1491 | V>G | No |
ClinGen ESP ExAC |
|
rs1283240091 CA373393557 |
1491 | V>M | No |
ClinGen TOPMed |
|
rs1215836347 CA373393478 |
1495 | A>G | No |
ClinGen TOPMed |
|
rs1376270357 CA373393485 |
1495 | A>T | No |
ClinGen TOPMed |
|
rs138986367 CA5048320 |
1497 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373393424 rs1294821944 |
1499 | A>T | No |
ClinGen gnomAD |
|
CA373393342 rs753888778 |
1503 | S>P | No |
ClinGen ExAC gnomAD |
|
CA5048319 rs753888778 |
1503 | S>T | No |
ClinGen ExAC gnomAD |
|
CA5048318 rs777707064 |
1507 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1040886850 CA192773862 |
1508 | S>N | No |
ClinGen Ensembl |
|
CA5048317 rs756002749 |
1510 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1459827294 CA13049131 |
1511 | L>R | No |
ClinGen gnomAD |
|
CA5048316 rs758176386 |
1515 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758176386 CA192773853 |
1515 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148894711 CA5048315 |
1515 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373393071 rs1189298508 |
1517 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA192773842 rs372921366 |
1518 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
rs372921366 CA5048314 |
1518 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
rs751292021 CA5048313 |
1520 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751292021 CA192773836 |
1520 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373393017 rs1211383332 |
1521 | A>T | No |
ClinGen gnomAD |
|
COSM1462261 rs1424218976 CA373392972 |
1523 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA192773810 rs201537122 |
1524 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA192773809 rs768597997 |
1526 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA373392871 rs1225107776 |
1529 | A>P | No |
ClinGen gnomAD |
|
CA373392873 rs1225107776 |
1529 | A>T | No |
ClinGen gnomAD |
|
rs1426924218 CA373392861 |
1529 | A>V | No |
ClinGen TOPMed |
|
CA192773798 rs952442752 |
1532 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1333035165 CA373392790 |
1533 | A>T | No |
ClinGen TOPMed |
|
CA373392770 rs1367277686 |
1534 | N>S | No |
ClinGen gnomAD |
|
rs151033435 CA5048309 |
1539 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5048308 rs761209160 |
1541 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1587979666 CA373392518 |
1543 | I>V | No |
ClinGen Ensembl |
|
CA373392490 rs1424133597 |
1544 | K>R | No |
ClinGen gnomAD |
|
CA192773510 rs943902713 |
1545 | A>V | No |
ClinGen TOPMed |
|
CA373392374 rs1458898641 |
1547 | D>G | No |
ClinGen TOPMed |
|
rs1363503500 CA373392327 |
1549 | A>P | No |
ClinGen gnomAD |
|
CA373392324 rs1363503500 |
1549 | A>S | No |
ClinGen gnomAD |
|
CA373392317 rs1179394179 |
1549 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs781212644 CA5048280 |
1550 | F>I | No |
ClinGen ExAC gnomAD |
|
CA5048279 rs754832772 |
1552 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1252416617 CA373392270 |
1552 | E>G | No |
ClinGen gnomAD |
|
CA373392237 rs781565789 |
1554 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1587979516 CA373392245 |
1554 | N>T | No |
ClinGen Ensembl |
|
CA192773488 rs796217856 |
1555 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1219317167 CA373392225 |
1555 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs544122167 CA192773474 |
1559 | R>G | No |
ClinGen TOPMed |
|
CA192773473 rs758191289 |
1559 | R>Q | No |
ClinGen gnomAD |
|
CA373392145 rs1392956509 |
1560 | A>T | No |
ClinGen TOPMed |
|
CA373392127 rs1277478868 |
1561 | A>T | No |
ClinGen gnomAD |
|
rs1226919078 CA373392108 |
1562 | T>A | No |
ClinGen gnomAD |
|
rs1414635838 CA373392008 |
1567 | E>K | No |
ClinGen gnomAD |
|
CA373391941 rs1336234837 |
1569 | V>M | No |
ClinGen gnomAD |
|
rs778680871 CA5048274 |
1576 | A>V | No |
ClinGen ExAC gnomAD |
|
CA373391734 rs1473705745 |
1577 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs759890811 CA5048270 |
1584 | I>F | No |
ClinGen ExAC gnomAD |
|
rs182406064 CA192773445 |
1584 | I>T | No |
ClinGen 1000Genomes TOPMed |
|
rs776900168 COSM247845 CA5048244 |
1593 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA192773309 rs267602229 |
1593 | R>W | No |
ClinGen TOPMed |
|
CA373390593 rs768688053 |
1594 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048243 rs768688053 |
1594 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373390579 rs1325527112 |
1595 | A>P | No |
ClinGen gnomAD |
|
CA5048242 rs760780040 |
1596 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1587979360 CA373390458 |
1599 | I>T | No |
ClinGen Ensembl |
|
CA373390425 rs1165224187 |
1600 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs772090309 CA5048240 |
1606 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1449591031 CA373390272 |
1609 | S>R | No |
ClinGen gnomAD |
|
rs1251968309 CA373390270 |
1610 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA373390262 rs1235179044 |
1611 | G>R | No |
ClinGen TOPMed |
|
rs770717000 CA5048237 |
1614 | I>L | No |
ClinGen ExAC gnomAD |
|
rs777475398 CA5048235 |
1615 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA192773250 rs879031982 |
1616 | T>I | No |
ClinGen TOPMed |
|
CA5048234 rs755618623 |
1617 | A>G | No |
ClinGen ExAC |
|
CA5048233 rs780560798 |
1618 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048232 COSM3848484 rs780560798 |
1618 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA373390140 rs1207300600 |
1618 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA373390132 rs1273187077 |
1619 | A>D | No |
ClinGen gnomAD |
|
rs1273187077 CA373390126 |
1619 | A>V | No |
ClinGen gnomAD |
|
rs555267067 CA5048229 |
1621 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs555267067 CA5048230 |
1621 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373390060 rs1302808194 |
1624 | P>S | No |
ClinGen gnomAD |
|
CA373390041 rs1293884475 |
1625 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA373390044 rs1293884475 |
1625 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA5048227 rs200231964 |
1625 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373390025 rs1587979309 |
1626 | D>A | No |
ClinGen Ensembl |
|
rs1309834154 CA373390015 |
1626 | D>E | No |
ClinGen gnomAD |
|
rs1368602865 CA373390032 |
1626 | D>N | No |
ClinGen gnomAD |
|
CA5048225 rs372348691 |
1628 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372348691 CA373389992 |
1628 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1430361730 CA373389998 |
1628 | P>T | No |
ClinGen gnomAD |
|
CA373389981 rs1587979304 |
1629 | S>N | No |
ClinGen Ensembl |
|
CA373389956 rs767562560 |
1630 | W>C | No |
ClinGen ExAC gnomAD |
|
rs767562560 CA5048223 |
1630 | W>C | No |
ClinGen ExAC gnomAD |
|
CA5048222 rs759485112 |
1631 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1359829487 CA373389924 |
1632 | V>A | No |
ClinGen TOPMed |
|
CA373389934 rs1192133634 |
1632 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs749077133 CA5048218 |
1635 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1563940495 CA373389876 |
1636 | H>N | No |
ClinGen Ensembl |
|
rs772787562 CA5048217 |
1638 | R>C | No |
ClinGen ExAC gnomAD |
|
rs538218511 CA5048216 |
1638 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5048215 rs747616908 |
1639 | T>I | No |
ClinGen ExAC gnomAD |
|
rs780623928 CA5048214 |
1642 | D>G | No |
ClinGen ExAC gnomAD |
|
CA192773137 rs879010817 |
1642 | D>H | No |
ClinGen TOPMed |
|
rs754472265 CA5048213 |
1643 | S>A | No |
ClinGen ExAC gnomAD |
|
CA373389748 rs1353754465 |
1645 | K>E | No |
ClinGen TOPMed |
|
rs757609430 CA5048210 |
1649 | T>K | No |
ClinGen ExAC gnomAD |
|
rs1374783353 CA373389659 |
1650 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA373389653 rs1300550435 |
1651 | M>V | No |
ClinGen gnomAD |
|
rs779307601 CA5048193 |
1653 | D>N | No |
ClinGen ExAC gnomAD |
|
CA192772981 rs879215147 |
1658 | Q>K | No |
ClinGen TOPMed |
|
rs144377720 CA5048191 |
1663 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA192772960 rs766069516 |
1664 | A>V | No |
ClinGen Ensembl |
|
CA5048189 rs756425071 |
1665 | I>T | No |
ClinGen ExAC gnomAD |
|
CA373389468 rs372917627 |
1666 | A>E | No |
ClinGen ExAC gnomAD |
|
rs1176685303 CA373389469 |
1666 | A>S | No |
ClinGen TOPMed |
|
CA5048188 rs372917627 |
1666 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1046383806 CA192772945 |
1667 | A>V | No |
ClinGen Ensembl |
|
rs375933712 CA192772935 |
1669 | N>K | No |
ClinGen Ensembl |
|
rs781536225 CA373389443 |
1669 | N>S | No |
ClinGen ExAC gnomAD |
|
CA5048187 rs781536225 |
1669 | N>T | No |
ClinGen ExAC gnomAD |
|
CA5048186 rs755159548 |
1670 | S>G | No |
ClinGen ExAC gnomAD |
|
CA192772890 rs949013301 |
1673 | R>L | No |
ClinGen Ensembl |
|
rs762882126 CA5048183 |
1673 | R>W | No |
ClinGen ExAC gnomAD |
|
CA192772888 rs760427707 |
1674 | D>V | No |
ClinGen gnomAD |
|
rs990359261 CA192772857 |
1681 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA5048180 rs761563243 |
1682 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1189398552 CA373389325 |
1682 | A>V | No |
ClinGen gnomAD |
|
rs988109824 CA192772848 |
1684 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA5048178 COSM1462259 rs768245253 |
1690 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs760206039 CA5048177 |
1690 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373389240 rs1445502263 |
1691 | E>D | No |
ClinGen TOPMed |
|
rs771359668 CA5048175 |
1692 | G>R | No |
ClinGen ExAC gnomAD |
|
CA373389226 rs1484302527 |
1693 | I>V | No |
ClinGen gnomAD |
|
rs767125543 CA5048155 |
1700 | T>I | No |
ClinGen ExAC gnomAD |
|
CA373389113 rs1474940296 |
1701 | Q>H | No |
ClinGen TOPMed |
|
rs758941726 CA5048154 |
1702 | M>I | No |
ClinGen ExAC gnomAD |
|
CA192772596 rs1019645077 |
1702 | M>V | No |
ClinGen TOPMed |
|
CA5048153 rs773820311 |
1703 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373389068 rs1452381004 |
1706 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs748555839 CA5048151 |
1709 | I>M | No |
ClinGen ExAC gnomAD |
|
rs1329618657 CA373389021 |
1710 | S>F | No |
ClinGen gnomAD |
|
CA5048150 rs373244419 |
1711 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs889345331 CA192772548 |
1713 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA5048149 rs769013675 |
1715 | P>L | No |
ClinGen ExAC gnomAD |
|
CA5048147 rs780106905 |
1716 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745884248 CA5048145 |
1717 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1666315 CA5048146 rs544636956 |
1717 | A>T | eye [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs202143177 CA5048144 |
1718 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1186190219 CA373388937 |
1720 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs757116039 CA5048143 |
1721 | R>Q | No |
ClinGen ExAC TOPMed |
|
CA373388933 rs1280158076 |
1721 | R>W | No |
ClinGen gnomAD |
|
CA5048142 rs753640062 |
1722 | A>G | No |
ClinGen ExAC gnomAD |
|
rs199962431 CA373388912 |
1723 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5048139 rs139337833 |
1729 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1352834690 CA373388855 |
1729 | H>Y | No |
ClinGen gnomAD |
|
rs1447969386 CA373388840 |
1730 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1331607060 CA373388773 |
1733 | Q>H | No |
ClinGen gnomAD |
|
rs1285427208 COSM1267909 CA373388770 |
1734 | M>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
COSM1489992 CA5048130 rs775801466 |
1735 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1217620904 CA588144993 |
1737 | Y>P | No |
ClinGen gnomAD |
|
rs1286012448 CA373388719 |
1738 | F>S | No |
ClinGen gnomAD |
|
CA5048128 rs745962007 |
1739 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373388696 rs1318847050 |
1740 | P>L | No |
ClinGen gnomAD |
|
CA373388697 rs1364695758 |
1740 | P>S | No |
ClinGen gnomAD |
|
CA373388674 rs1345526205 |
1742 | T>I | No |
ClinGen gnomAD |
|
CA373388680 rs1587978793 |
1742 | T>P | No |
ClinGen Ensembl |
|
CA5048124 rs777660256 |
1747 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373388626 rs1587978779 |
1748 | A>P | No |
ClinGen Ensembl |
|
rs1587978774 CA373388589 |
1752 | T>P | No |
ClinGen Ensembl |
|
CA5048123 rs755988954 |
1753 | L>R | No |
ClinGen ExAC gnomAD |
|
CA373388551 rs1203250395 |
1756 | P>A | No |
ClinGen TOPMed |
|
CA5048121 rs376156981 |
1757 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1419908136 CA373388454 |
1765 | T>P | No |
ClinGen gnomAD |
|
rs894141178 CA192772358 |
1768 | L>S | No |
ClinGen gnomAD |
|
CA5048117 rs538785316 |
1769 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1162101459 CA373388385 |
1771 | S>C | No |
ClinGen gnomAD |
|
rs1295541234 CA373388375 |
1773 | L>V | No |
ClinGen gnomAD |
|
rs1362939516 CA373388362 |
1774 | Q>R | No |
ClinGen gnomAD |
|
CA5048115 rs768710092 |
1775 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373388349 rs1587978729 |
1775 | L>S | No |
ClinGen Ensembl |
|
CA5048112 rs374958442 |
1781 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
rs903347991 CA192772337 |
1782 | A>T | No |
ClinGen gnomAD |
|
rs780792750 CA373388185 |
1789 | A>G | No |
ClinGen ExAC gnomAD |
|
CA5048102 rs780792750 |
1789 | A>V | No |
ClinGen ExAC gnomAD |
|
CA192772236 rs754790750 |
1790 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048101 rs754790750 |
1790 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373388155 rs1217712104 |
1791 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA373388146 rs1369411932 |
1792 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA192772216 COSM1674482 rs931960025 |
1793 | Q>L | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs779830899 CA5048099 |
1795 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048100 rs751297121 |
1795 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048097 rs201457771 |
1797 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs758003423 CA5048098 |
1797 | E>K | No |
ClinGen ExAC gnomAD |
|
CA192772166 rs920609151 |
1797 | E>V | No |
ClinGen TOPMed gnomAD |
|
CA5048096 rs764663644 |
1799 | A>T | No |
ClinGen ExAC gnomAD |
|
CA373388055 rs1249424745 |
1800 | V>A | No |
ClinGen TOPMed |
|
COSM1555094 rs879011046 CA192772147 |
1803 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs761026853 CA5048095 |
1804 | T>S | No |
ClinGen ExAC gnomAD |
|
rs767833622 CA5048093 |
1805 | E>K | No |
ClinGen ExAC gnomAD |
|
rs771095398 CA5048090 |
1807 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373387920 rs1480971934 |
1808 | E>D | No |
ClinGen gnomAD |
|
CA192772129 rs34723987 |
1808 | E>G | No |
ClinGen Ensembl |
|
rs769786192 CA5048087 |
1812 | T>A | No |
ClinGen ExAC gnomAD |
|
CA373387874 rs1263511653 |
1812 | T>I | No |
ClinGen gnomAD |
|
rs1587978602 CA373387872 |
1813 | T>P | No |
ClinGen Ensembl |
|
COSM346127 rs768383698 CA5048084 |
1816 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs868567765 CA192772093 |
1818 | A>V | No |
ClinGen gnomAD |
|
rs878899170 CA192772076 |
1820 | A>V | No |
ClinGen gnomAD |
|
rs1177596250 CA373387725 |
1824 | V>M | No |
ClinGen gnomAD |
|
CA5048080 rs749964239 |
1825 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1587978553 CA373387640 |
1828 | V>G | No |
ClinGen Ensembl |
|
CA373387623 rs1255487270 |
1829 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1180246774 CA373387603 |
1831 | I>V | No |
ClinGen gnomAD |
|
CA373387577 rs1337824035 |
1833 | Q>E | No |
ClinGen gnomAD |
|
CA5048077 rs564861791 |
1833 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA192772027 rs769092885 |
1835 | I>V | No |
ClinGen Ensembl |
|
rs771977833 CA5048061 |
1839 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192771859 rs920583265 |
1842 | P>L | No |
ClinGen Ensembl |
|
rs932070202 CA192771874 |
1842 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA373387360 rs932070202 |
1842 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs745578738 CA5048060 |
1843 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747472950 CA192771850 |
1844 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048059 rs747472950 |
1844 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1359485487 CA373387330 |
1844 | G>R | No |
ClinGen gnomAD |
|
rs1206242922 CA373387325 |
1845 | E>Q | No |
ClinGen TOPMed |
|
CA192771849 rs1031141145 |
1846 | P>L | No |
ClinGen TOPMed |
|
CA5048058 rs756770125 |
1848 | G>D | No |
ClinGen ExAC gnomAD |
|
CA373387249 rs756770125 |
1848 | G>V | No |
ClinGen ExAC gnomAD |
|
CA373387210 rs1390613112 |
1851 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1453843384 CA373387116 |
1856 | T>I | No |
ClinGen TOPMed |
|
CA373387112 rs766789345 |
1857 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1587978420 CA373387106 |
1857 | M>T | No |
ClinGen Ensembl |
|
CA5048053 rs766789345 |
1857 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750652395 CA5048051 |
1859 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758758658 CA5048052 |
1859 | R>W | No |
ClinGen ExAC gnomAD |
|
rs778074771 CA192771827 |
1862 | K>E | No |
ClinGen TOPMed |
|
CA5048050 rs146471988 |
1867 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1563939916 CA373386979 |
1868 | V>G | No |
ClinGen Ensembl |
|
CA373386985 rs1265029717 |
1868 | V>I | No |
ClinGen gnomAD |
|
rs1410183885 CA373386729 |
1877 | T>S | No |
ClinGen TOPMed |
|
CA373386622 rs1332089542 |
1884 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs368693885 CA5048033 |
1885 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779004981 CA5048032 |
1886 | A>D | No |
ClinGen ExAC gnomAD |
|
CA373386591 rs1261650264 |
1887 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA373386587 rs1587978328 |
1887 | N>T | No |
ClinGen Ensembl |
|
CA5048031 rs757441905 |
1888 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs753991048 CA5048030 |
1890 | T>N | No |
ClinGen ExAC gnomAD |
|
CA373386518 rs1389990010 |
1891 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA373386520 rs1389990010 |
1891 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs760801956 CA5048028 |
1895 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048027 rs567336438 |
1895 | R>H | No |
ClinGen ExAC TOPMed |
|
CA192771701 rs779743307 |
1898 | S>L | No |
ClinGen gnomAD |
|
CA192771690 rs940640050 |
1900 | A>T | No |
ClinGen Ensembl |
|
rs774131777 CA373386384 |
1901 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5048024 rs774131777 |
1901 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770507067 CA5048023 |
1902 | P>S | No |
ClinGen ExAC gnomAD |
|
rs762726209 CA5048022 |
1903 | A>V | No |
ClinGen ExAC gnomAD |
|
CA373386334 rs1471124291 |
1904 | A>T | No |
ClinGen gnomAD |
|
CA5048020 rs373819052 |
1904 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5048018 rs780568851 |
1905 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373386311 rs780568851 |
1905 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373386291 rs1205945141 |
1906 | A>T | No |
ClinGen gnomAD |
|
rs879009491 CA192771634 |
1909 | N>D | No |
ClinGen TOPMed |
|
CA192771627 rs907878717 |
1909 | N>T | No |
ClinGen TOPMed gnomAD |
|
CA373384726 rs1268198953 |
1912 | I>T | No |
ClinGen gnomAD |
|
CA192770945 rs900330251 |
1916 | I>V | No |
ClinGen TOPMed |
|
CA373384664 rs1372768361 |
1917 | K>Q | No |
ClinGen TOPMed |
|
CA373384628 rs1432688705 |
1919 | R>Q | No |
ClinGen gnomAD |
|
rs17854239 VAR_023752 CA192770944 |
1919 | R>W | No |
ClinGen UniProt Ensembl dbSNP |
|
CA373384621 rs1587977851 |
1920 | V>I | No |
ClinGen Ensembl |
|
CA5047997 rs768037985 |
1921 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374846996 CA192770942 |
1923 | L>M | No |
ClinGen ESP TOPMed |
|
CA373384450 rs1366822788 |
1926 | G>A | No |
ClinGen gnomAD |
|
CA373384447 rs1366822788 |
1926 | G>D | No |
ClinGen gnomAD |
|
rs1163730315 CA373384430 |
1927 | C>Y | No |
ClinGen gnomAD |
|
CA5047994 rs771374255 |
1929 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047993 rs749618464 |
1932 | T>I | No |
ClinGen ExAC gnomAD |
|
rs778175682 CA5047992 |
1934 | A>T | No |
ClinGen ExAC gnomAD |
|
rs748255410 CA5047990 |
1936 | A>T | No |
ClinGen ExAC gnomAD |
|
rs376241579 CA5047988 |
1940 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751555908 CA5047987 |
1941 | P>S | No |
ClinGen ExAC gnomAD |
|
CA192770882 rs200540143 |
1944 | A>G | No |
ClinGen TOPMed |
|
CA5047986 rs766206728 |
1946 | T>I | No |
ClinGen ExAC gnomAD |
|
CA5047985 rs758237462 |
1948 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750149814 CA5047984 |
1948 | K>N | No |
ClinGen ExAC gnomAD |
|
CA5047983 rs764881165 |
1950 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1303414489 CA373383942 |
1951 | I>L | No |
ClinGen TOPMed |
|
CA373383928 rs1460518301 |
1951 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs143195358 CA5047982 |
1951 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779613979 CA192770842 |
1952 | E>Q | No |
ClinGen Ensembl |
|
rs1254797233 CA373383912 |
1952 | E>V | No |
ClinGen TOPMed |
|
rs776261434 CA5047981 |
1953 | C>R | No |
ClinGen ExAC gnomAD |
|
rs878966751 CA192770828 |
1954 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs771306375 CA5047977 |
1955 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771306375 CA5047978 |
1955 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760076950 CA5047980 COSM1229373 |
1955 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1172030566 CA373383855 |
1956 | R>K | No |
ClinGen gnomAD |
|
rs763602150 CA5047962 |
1962 | S>F | No |
ClinGen ExAC gnomAD |
|
CA5047959 rs755674368 |
1964 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763617817 CA5047958 |
1966 | A>P | No |
ClinGen ExAC gnomAD |
|
rs369224826 CA192770727 |
1973 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
CA192770726 rs374829218 |
1975 | T>I | No |
ClinGen ESP |
|
CA373383444 rs1587977709 |
1975 | T>P | No |
ClinGen Ensembl |
|
CA373383376 rs1587977697 |
1980 | T>P | No |
ClinGen Ensembl |
|
CA373383358 rs1223894509 |
1982 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA5047953 rs35642290 |
1984 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs35642290 CA5047952 VAR_055538 |
1984 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780053028 CA5047951 |
1985 | V>A | No |
ClinGen ExAC gnomAD |
|
CA5047950 rs772134028 |
1987 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772134028 CA192770704 |
1987 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235582549 CA373383276 |
1988 | I>T | No |
ClinGen TOPMed |
|
CA5047949 rs745844999 |
1988 | I>V | No |
ClinGen ExAC gnomAD |
|
CA373383265 rs1453658760 |
1989 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs1453658760 CA373383262 |
1989 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs149639715 CA5047947 |
1993 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5047946 rs753534027 |
1994 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1181900524 CA373383158 |
1996 | I>V | No |
ClinGen gnomAD |
|
rs569058643 CA192770663 |
1999 | A>T | No |
ClinGen TOPMed |
|
CA373383100 rs1249581446 |
2000 | T>I | No |
ClinGen TOPMed |
|
rs1476056866 CA373383084 |
2001 | A>G | No |
ClinGen TOPMed |
|
CA5047942 rs147500636 |
2005 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA192770654 rs1055810800 |
2006 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs759087292 CA5047941 COSM3943019 |
2006 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA373383007 rs759087292 |
2006 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192770625 rs938264529 |
2010 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1307932255 CA373382936 |
2011 | T>S | No |
ClinGen TOPMed |
|
CA192770618 rs144809355 |
2013 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5047939 COSM186425 rs144809355 |
2013 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA373382873 rs1382059912 |
2016 | R>Q | No |
ClinGen gnomAD |
|
CA5047937 rs769049532 |
2016 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761077558 CA5047916 |
2017 | E>G | No |
ClinGen ExAC gnomAD |
|
CA192770516 rs762781098 |
2017 | E>Q | No |
ClinGen Ensembl |
|
CA192770493 rs879087301 |
2021 | K>T | No |
ClinGen TOPMed |
|
rs72727037 CA192770485 |
2022 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
CA5047911 rs770989007 |
2025 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770989007 CA373382694 |
2025 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373382677 rs1217747118 |
2027 | V>G | No |
ClinGen TOPMed |
|
rs1242336772 CA373382657 |
2028 | E>D | No |
ClinGen TOPMed |
|
rs747927980 CA5047908 |
2030 | T>I | No |
ClinGen ExAC gnomAD |
|
CA5047907 rs747927980 |
2030 | T>S | No |
ClinGen ExAC gnomAD |
|
rs773175504 CA5047909 |
2030 | T>S | No |
ClinGen ExAC gnomAD |
|
rs754612816 CA5047905 |
2032 | V>G | No |
ClinGen ExAC gnomAD |
|
rs779775853 CA5047903 |
2034 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047901 rs754350709 |
2037 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764608419 CA5047900 |
2038 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1480728267 CA373382490 |
2040 | S>G | No |
ClinGen gnomAD |
|
rs534539011 CA192770437 |
2043 | K>E | No |
ClinGen 1000Genomes |
|
rs1454358813 CA373382409 |
2045 | A>T | No |
ClinGen TOPMed |
|
rs756462203 CA5047899 |
2045 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1439162078 CA373382390 |
2046 | Q>* | No |
ClinGen gnomAD |
|
rs1250854579 CA373382371 |
2047 | A>P | No |
ClinGen gnomAD |
|
CA373382320 rs1413111157 |
2049 | Q>P | No |
ClinGen TOPMed |
|
rs759815488 CA5047896 |
2050 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047892 rs773046339 |
2052 | V>E | No |
ClinGen ExAC gnomAD |
|
rs763070231 CA5047894 |
2052 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047893 rs763070231 |
2052 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747900794 CA373382242 |
2053 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373382251 rs1237029924 |
2053 | A>T | No |
ClinGen gnomAD |
|
CA5047890 rs747900794 COSM1108724 |
2053 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1013321882 CA192770378 |
2055 | I>V | No |
ClinGen TOPMed |
|
rs896203302 CA192770372 |
2056 | T>N | No |
ClinGen TOPMed |
|
rs1587977452 CA373382190 |
2056 | T>P | No |
ClinGen Ensembl |
|
rs768564215 CA5047888 |
2057 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373576316 CA5047887 |
2057 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA192770358 rs757869013 |
2059 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047885 rs757869013 |
2059 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047884 rs745339374 |
2061 | V>E | No |
ClinGen ExAC gnomAD |
|
rs1197617332 CA373382085 |
2065 | G>S | No |
ClinGen TOPMed |
|
rs778144062 CA5047883 |
2066 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1179485684 CA373382013 |
2068 | S>N | No |
ClinGen TOPMed |
|
CA373381970 rs1363911712 |
2070 | G>V | No |
ClinGen gnomAD |
|
CA192770342 rs992376960 |
2074 | P>A | No |
ClinGen gnomAD |
|
CA5047857 rs758590245 |
2079 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750600117 CA5047856 |
2080 | L>V | No |
ClinGen ExAC gnomAD |
|
CA192770178 rs754215577 |
2082 | N>I | No |
ClinGen Ensembl |
|
rs761961290 CA5047854 |
2083 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1472459367 CA373381593 |
2084 | V>A | No |
ClinGen TOPMed |
|
rs1164951972 CA373381571 |
2085 | K>N | No |
ClinGen gnomAD |
|
CA373381491 rs1409021891 |
2089 | K>N | No |
ClinGen gnomAD |
|
rs1010558566 CA192770155 |
2095 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA5047852 rs764082603 |
2096 | S>R | No |
ClinGen ExAC gnomAD |
|
CA5047853 rs753849020 |
2096 | S>T | No |
ClinGen ExAC |
|
CA192770146 rs532941560 |
2097 | A>V | No |
ClinGen 1000Genomes |
|
rs760546504 CA5047851 |
2098 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047850 rs149573730 |
2098 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs966971440 CA192770143 |
2102 | A>S | No |
ClinGen TOPMed |
|
rs150589376 CA5047848 |
2104 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs112062216 CA192770139 |
2105 | V>I | No |
ClinGen gnomAD |
|
CA192770122 rs879002543 |
2108 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs770526341 CA5047846 |
2111 | V>L | No |
ClinGen ExAC gnomAD |
|
rs748751139 CA5047845 |
2113 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141770878 CA5047844 |
2115 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746634982 CA192770059 |
2116 | N>S | No |
ClinGen Ensembl |
|
CA5047827 rs759232681 |
2120 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1336553169 CA373380804 |
2121 | M>V | No |
ClinGen gnomAD |
|
CA373380780 rs1476425423 |
2122 | V>L | No |
ClinGen TOPMed |
|
rs774078738 CA5047826 |
2123 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1361450118 CA373380619 |
2129 | L>P | No |
ClinGen gnomAD |
|
CA373380582 rs1418532640 |
2132 | V>L | No |
ClinGen gnomAD |
|
rs1302719221 CA373380556 |
2134 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs373973771 CA5047824 |
2135 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373973771 CA5047823 |
2135 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1440608491 CA373380349 |
2140 | T>I | No |
ClinGen gnomAD |
|
rs1440608491 CA373380351 |
2140 | T>S | No |
ClinGen gnomAD |
|
CA373380327 rs1427685052 |
2141 | K>R | No |
ClinGen TOPMed |
|
CA5047822 rs769283876 |
2142 | G>S | No |
ClinGen ExAC gnomAD |
|
CA5047821 rs144785896 |
2143 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5047820 rs775836359 |
2144 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs145490598 CA5047818 |
2149 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779196316 CA5047817 |
2149 | T>I | No |
ClinGen ExAC gnomAD |
|
CA373380184 rs1287556766 |
2150 | T>A | No |
ClinGen gnomAD |
|
rs370983784 CA5047815 |
2153 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
CA5047814 rs376777953 |
2154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1057127324 CA192769862 |
2154 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs376996591 CA5047813 |
2157 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA373380027 rs1381830057 |
2158 | A>T | No |
ClinGen gnomAD |
|
rs1422769328 CA373380016 |
2158 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1170295136 CA373378555 |
2160 | F>C | No |
ClinGen TOPMed |
|
rs746256916 CA5047799 |
2163 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1587975662 CA373378503 |
2164 | E>D | No |
ClinGen Ensembl |
|
CA5047798 rs776058619 |
2166 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1161833081 CA373378451 |
2169 | T>A | No |
ClinGen gnomAD |
|
CA5047796 rs749560358 |
2169 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1587975653 CA373378431 |
2171 | T>P | No |
ClinGen Ensembl |
|
CA5047795 rs778120838 |
2172 | P>Q | No |
ClinGen ExAC gnomAD |
|
CA5047794 rs756242496 |
2177 | R>G | No |
ClinGen ExAC gnomAD |
|
CA373378356 rs1425752432 |
2177 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1220555825 CA373378303 |
2181 | G>D | No |
ClinGen gnomAD |
|
rs1587975643 CA373378286 |
2183 | T>P | No |
ClinGen Ensembl |
|
rs781194388 CA5047792 |
2184 | M>I | No |
ClinGen ExAC gnomAD |
|
rs879165236 CA192766428 |
2184 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs1587975634 CA373378248 |
2186 | T>P | No |
ClinGen Ensembl |
|
rs201563518 CA5047790 |
2187 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1108718 rs201563518 CA373378232 |
2187 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA373378224 rs1232708700 |
2187 | A>V | No |
ClinGen TOPMed |
|
CA5047788 rs758160563 |
2190 | V>I | No |
ClinGen ExAC gnomAD |
|
rs764826141 CA5047786 |
2194 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047787 COSM132771 rs764826141 |
2194 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1285073586 CA373378123 |
2196 | C>G | No |
ClinGen TOPMed |
|
CA5047785 rs761387809 |
2197 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA192766397 rs200428164 |
2197 | R>H | No |
ClinGen TOPMed |
|
rs374219676 CA5047784 |
2199 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373378087 rs1344898063 |
2199 | E>K | No |
ClinGen gnomAD |
|
CA192766393 rs1019489575 |
2201 | V>A | No |
ClinGen Ensembl |
|
rs74431517 CA192766389 |
2204 | T>P | No |
ClinGen Ensembl |
|
rs1388740033 CA373378035 |
2207 | L>V | No |
ClinGen gnomAD |
|
CA373378020 rs1297371769 |
2209 | R>C | No |
ClinGen gnomAD |
|
CA192766363 rs1007964919 |
2209 | R>H | No |
ClinGen Ensembl |
|
CA5047782 rs760027665 |
2210 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047781 rs369648672 |
2210 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA192766359 rs760027665 |
2210 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373378009 rs1171223488 |
2211 | A>G | No |
ClinGen gnomAD |
|
rs138625537 CA5047780 |
2212 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
rs763362601 CA5047779 |
2213 | A>T | No |
ClinGen ExAC gnomAD |
|
CA373377986 rs1200420015 |
2215 | M>T | No |
ClinGen gnomAD |
|
CA192766331 rs770202937 |
2215 | M>V | No |
ClinGen gnomAD |
|
CA5047777 rs769841997 COSM3848482 |
2217 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA5047778 rs143073968 |
2217 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA192766318 rs11541910 |
2218 | A>S | No |
ClinGen gnomAD |
|
CA5047776 rs148578435 |
2218 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1260409827 CA373377959 |
2220 | K>E | No |
ClinGen gnomAD |
|
rs771935637 CA5047750 |
2221 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1386215958 CA373377929 |
2222 | A>G | No |
ClinGen TOPMed |
|
rs149034259 CA192766206 |
2223 | A>T | No |
ClinGen ESP |
|
CA192766202 rs879119546 |
2224 | Y>C | No |
ClinGen TOPMed |
|
CA373377902 rs1383597850 |
2226 | P>L | No |
ClinGen gnomAD |
|
CA5047749 rs745787793 |
2229 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1421107023 CA373377880 |
2230 | P>S | No |
ClinGen gnomAD |
|
rs749106140 CA192766181 |
2232 | V>L | No |
ClinGen ExAC gnomAD |
|
rs749106140 CA5047747 |
2232 | V>M | No |
ClinGen ExAC gnomAD |
|
CA373377863 rs544154004 |
2233 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047745 rs544154004 |
2233 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047744 rs544154004 |
2233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047746 rs748941469 |
2233 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047743 rs752190315 |
2235 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA373377837 rs767008341 |
2238 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047742 rs767008341 |
2238 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047739 rs144879123 |
2241 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs750965317 CA5047740 |
2241 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1245521985 CA373377797 |
2244 | A>G | No |
ClinGen gnomAD |
|
rs1252630461 CA373377795 |
2245 | N>H | No |
ClinGen TOPMed |
|
CA5047738 rs368513332 |
2245 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5047737 rs776747087 |
2246 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1285792192 CA373377787 |
2246 | G>S | No |
ClinGen gnomAD |
|
rs374151556 CA5047736 |
2249 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373377762 rs1295788569 |
2250 | L>V | No |
ClinGen gnomAD |
|
rs760753833 CA5047735 |
2253 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1587975092 CA373377710 |
2257 | T>P | No |
ClinGen Ensembl |
|
CA5047717 rs775657730 |
2258 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1563937617 CA373377702 |
2259 | Q>K | No |
ClinGen Ensembl |
|
CA373377684 rs1190725309 COSM1108714 |
2261 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1329833033 CA373377674 |
2262 | S>R | No |
ClinGen TOPMed |
|
CA373377669 rs1342638389 |
2263 | P>L | No |
ClinGen TOPMed |
|
CA5047714 rs774185391 |
2271 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047712 rs749052015 |
2272 | H>R | No |
ClinGen ExAC gnomAD |
|
rs770836745 CA5047713 |
2272 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1200443234 CA373377604 |
2273 | S>A | No |
ClinGen gnomAD |
|
CA5047711 rs773118269 |
2275 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773118269 CA373377590 |
2275 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs73438721 CA5047710 |
2275 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1217021624 CA373377586 |
2276 | V>L | No |
ClinGen gnomAD |
|
CA5047708 rs780974070 |
2280 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1196681235 CA373377552 |
2282 | E>K | No |
ClinGen TOPMed |
|
CA373377532 rs1376609089 |
2284 | I>M | No |
ClinGen gnomAD |
|
rs768307016 CA5047707 |
2286 | A>T | No |
ClinGen ExAC gnomAD |
|
CA373377513 rs1467615008 |
2287 | A>V | No |
ClinGen gnomAD |
|
rs1265006010 CA373377512 |
2288 | E>K | No |
ClinGen TOPMed |
|
CA373377499 rs1401722475 |
2289 | A>V | No |
ClinGen gnomAD |
|
CA192765508 rs780140944 |
2292 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA5047686 rs746625724 |
2293 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1303480705 CA373376628 |
2299 | E>D | No |
ClinGen gnomAD |
|
rs1587974875 CA373376607 |
2300 | D>A | No |
ClinGen Ensembl |
|
rs1272933392 CA373376551 |
2303 | V>D | No |
ClinGen TOPMed |
|
rs771447783 CA5047683 |
2304 | I>V | No |
ClinGen ExAC gnomAD |
|
rs778203119 CA5047681 |
2308 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1355759744 CA373376405 |
2309 | L>V | No |
ClinGen TOPMed |
|
rs752991296 CA5047679 |
2311 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1162478099 CA373376376 |
2311 | G>V | No |
ClinGen gnomAD |
|
rs781408239 CA5047678 |
2312 | A>P | No |
ClinGen ExAC gnomAD |
|
rs1486983988 CA373376323 |
2315 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1450474693 CA373376249 |
2318 | A>T | No |
ClinGen TOPMed |
|
rs1216869896 CA373376206 |
2320 | A>T | No |
ClinGen gnomAD |
|
CA5047674 rs762923546 |
2322 | K>N | No |
ClinGen ExAC gnomAD |
|
rs750413519 CA5047673 |
2324 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs147951718 CA5047672 |
2327 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA373375990 rs117039868 |
2329 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5047669 rs768328246 |
2329 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768328246 CA5047670 |
2329 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs117039868 CA5047671 |
2329 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA373375981 rs1280248661 |
2330 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs368994558 CA5047668 |
2330 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1391551183 CA373375943 |
2332 | P>A | No |
ClinGen TOPMed |
|
rs1487450968 CA373375803 |
2337 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs773910550 CA5047645 |
2338 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373375765 rs1254019628 |
2340 | N>T | No |
ClinGen gnomAD |
|
rs748693979 CA5047643 |
2343 | E>D | No |
ClinGen ExAC gnomAD |
|
CA373375718 rs1456728372 |
2343 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1240499457 CA373375713 |
2343 | E>V | No |
ClinGen TOPMed gnomAD |
|
CA5047642 rs777100987 |
2345 | I>T | No |
ClinGen ExAC gnomAD |
|
CA373375626 rs1348952155 |
2350 | K>R | No |
ClinGen gnomAD |
|
rs780331136 CA5047639 |
2351 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373375561 rs1587974693 |
2352 | I>M | No |
ClinGen Ensembl |
|
rs572853368 CA192765339 |
2357 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1242109986 CA373375392 |
2358 | A>V | No |
ClinGen TOPMed |
|
CA5047634 rs753847404 |
2362 | A>T | No |
ClinGen ExAC gnomAD |
|
rs763897212 CA5047633 |
2363 | A>V | No |
ClinGen ExAC gnomAD |
|
rs773963763 CA5047628 |
2370 | L>V | No |
ClinGen ExAC gnomAD |
|
rs765923768 CA5047627 |
2371 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1442390327 CA373375147 |
2371 | V>M | No |
ClinGen gnomAD |
|
CA192765247 rs377411171 |
2376 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
rs776040475 CA5047604 |
2377 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA373374950 rs776040475 |
2377 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772585317 CA5047603 |
2378 | A>T | No |
ClinGen ExAC gnomAD |
|
rs144875708 CA5047602 |
2378 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
CA5047601 rs774718226 |
2379 | I>F | No |
ClinGen ExAC gnomAD |
|
rs1401457998 CA373374902 |
2380 | P>L | No |
ClinGen gnomAD |
|
CA5047599 rs775393589 |
2382 | N>S | No |
ClinGen ExAC gnomAD |
|
CA5047598 rs777783366 |
2383 | A>V | No |
ClinGen ExAC gnomAD |
|
rs941317380 CA192765238 |
2385 | D>N | No |
ClinGen gnomAD |
|
CA192765234 rs886924508 |
2391 | Q>E | No |
ClinGen gnomAD |
|
CA373374719 rs1191675783 |
2392 | G>D | No |
ClinGen gnomAD |
|
CA373374599 rs556571189 |
2398 | R>L | No |
ClinGen 1000Genomes TOPMed |
|
CA192765202 rs556571189 |
2398 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
CA373374605 rs1200484122 |
2398 | R>W | No |
ClinGen gnomAD |
|
CA373374577 rs1307513373 |
2400 | V>M | No |
ClinGen gnomAD |
|
rs200286479 CA5047577 COSM1108710 |
2402 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1587974433 CA373374535 |
2404 | T>P | No |
ClinGen Ensembl |
|
rs147275602 CA5047574 |
2405 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1587974416 CA373374415 |
2412 | N>H | No |
ClinGen Ensembl |
|
CA5047572 rs745524706 |
2413 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1397057712 CA373374364 |
2416 | Q>* | No |
ClinGen gnomAD |
|
CA373374359 rs1452475426 |
2416 | Q>R | No |
ClinGen TOPMed |
|
rs778584411 CA5047571 |
2417 | G>S | No |
ClinGen ExAC gnomAD |
|
CA5047570 rs756724126 |
2418 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047569 rs753329869 |
2427 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755608601 CA5047567 |
2429 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA373374217 rs1236375862 |
2430 | Q>L | No |
ClinGen gnomAD |
|
rs1239007791 CA373374032 |
2443 | K>R | No |
ClinGen gnomAD |
|
CA5047563 rs773339165 |
2447 | D>A | No |
ClinGen ExAC gnomAD |
|
rs1445829432 CA373373964 |
2448 | Q>* | No |
ClinGen gnomAD |
|
rs1445829432 CA373373962 |
2448 | Q>K | No |
ClinGen gnomAD |
|
rs913381794 CA192765175 COSM487428 |
2450 | S>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1217495611 CA373373848 |
2454 | K>N | No |
ClinGen gnomAD |
|
rs1419379866 CA373373841 |
2455 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA373373715 rs1442005264 |
2458 | A>G | No |
ClinGen TOPMed |
|
CA5047545 rs555751291 |
2458 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1192375694 CA373373698 |
2459 | A>V | No |
ClinGen gnomAD |
|
rs762166245 CA5047543 |
2462 | A>T | No |
ClinGen ExAC gnomAD |
|
CA5047542 rs754032655 |
2465 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA5047541 rs764178055 |
2468 | D>G | No |
ClinGen ExAC gnomAD |
|
CA5047540 rs760702598 |
2469 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775408333 CA5047539 |
2475 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA5047538 rs771985775 |
2476 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1332685594 CA373373422 |
2480 | F>L | No |
ClinGen TOPMed |
|
rs759375838 CA5047537 |
2482 | E>A | No |
ClinGen ExAC gnomAD |
|
CA5047536 rs774268390 |
2483 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA373373304 rs1442995061 |
2486 | E>K | No |
ClinGen gnomAD |
|
rs748999092 CA5047534 |
2494 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1463570444 CA373373108 |
2496 | G>S | No |
ClinGen gnomAD |
|
CA192765109 rs1014017315 |
2497 | G>S | No |
ClinGen Ensembl |
|
rs769461396 CA5047532 |
2497 | G>V | No |
ClinGen ExAC gnomAD |
|
CA192765106 rs1034707935 |
2498 | I>V | No |
ClinGen TOPMed |
|
rs1432274064 CA373373045 |
2499 | A>V | No |
ClinGen gnomAD |
|
rs895664543 CA192765103 |
2500 | Q>L | No |
ClinGen Ensembl |
|
CA5047505 COSM1108708 rs148513341 |
2503 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA192765019 rs370137759 |
2513 | R>Q | No |
ClinGen ESP |
|
rs1195830701 CA373372717 |
2514 | E>Q | No |
ClinGen gnomAD |
|
rs1307631134 CA373372653 |
2518 | A>T | No |
ClinGen gnomAD |
|
rs1394876123 CA373372638 |
2519 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs954831035 CA192765017 |
2520 | K>N | No |
ClinGen Ensembl |
|
rs1235966423 CA373372630 |
2520 | K>Q | No |
ClinGen gnomAD |
|
CA192765014 rs902731014 |
2523 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs1314310484 CA373372510 |
2526 | R>Q | No |
ClinGen gnomAD |
|
CA373372418 rs1298910771 |
2529 | Q>P | No |
ClinGen TOPMed |
|
rs751547692 CA5047502 |
2536 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5047503 rs754964639 |
2536 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1276610928 CA373372234 |
2538 | R>* | No |
ClinGen TOPMed |
|
rs1468937293 CA373372202 |
2539 | D>V | No |
ClinGen gnomAD |
|
CA373372155 rs1365992523 |
2541 | H>P | No |
ClinGen gnomAD |
|
rs754137494 CA5047501 |
2542 | H>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y490
9 regional properties for Q9Y490
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | FERM domain | 86 - 403 | IPR000299 |
domain | I/LWEQ domain | 2293 - 2533 | IPR002558 |
domain | Talin, central | 491 - 652 | IPR015224 |
conserved_site | FERM conserved site | 173 - 201 | IPR019747-1 |
conserved_site | FERM conserved site | 283 - 312 | IPR019747-2 |
domain | FERM central domain | 202 - 313 | IPR019748 |
domain | Band 4.1 domain | 82 - 313 | IPR019749 |
domain | Talin, N-terminal F0 domain | 4 - 83 | IPR032425 |
domain | Talin-1/2, rod-segment | 1654 - 1826 | IPR037438 |
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR19981 | TALIN |
PANTHER Subfamily | PTHR19981:SF7 | TALIN-1 |
PANTHER Protein Class | ||
PANTHER Pathway Category |
Integrin signalling pathway Talin |
10 GO annotations of cellular component
Name | Definition |
---|---|
adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
cell surface | The external part of the cell wall and/or plasma membrane. |
cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
8 GO annotations of molecular function
Name | Definition |
---|---|
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
integrin binding | Binding to an integrin. |
LIM domain binding | Binding to a LIM domain (for Lin-11 Isl-1 Mec-3) of a protein, a domain with seven conserved cysteine residues and a histidine, that binds two zinc ions and acts as an interface for protein-protein interactions. |
phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
vinculin binding | Binding to vinculin, a protein found in muscle, fibroblasts, and epithelial cells that binds actin and appears to mediate attachment of actin filaments to integral proteins of the plasma membrane. |
7 GO annotations of biological process
Name | Definition |
---|---|
cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
cell-substrate junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between a cell and its substrate. |
cortical actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
integrin activation | The aggregation, arrangement and bonding together of an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits, that lead to the increased affinity of the integrin for its extracellular ligands. |
integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
14 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q32LP0 | FERMT3 | Fermitin family homolog 3 | Bos taurus (Bovine) | SS |
P54939 | TLN1 | Talin-1 | Gallus gallus (Chicken) | SS |
Q9VZI3 | Fit1 | Unc-112-related protein | Drosophila melanogaster (Fruit fly) | SS |
Q9Y4G6 | TLN2 | Talin-2 | Homo sapiens (Human) | SS |
Q96AC1 | FERMT2 | Fermitin family homolog 2 | Homo sapiens (Human) | SS |
Q86UX7 | FERMT3 | Fermitin family homolog 3 | Homo sapiens (Human) | EV |
Q9BQL6 | FERMT1 | Fermitin family homolog 1 | Homo sapiens (Human) | SS |
Q71LX4 | Tln2 | Talin-2 | Mus musculus (Mouse) | SS |
P26039 | Tln1 | Talin-1 | Mus musculus (Mouse) | EV |
Q8K1B8 | Fermt3 | Fermitin family homolog 3 | Mus musculus (Mouse) | SS |
P59113 | Fermt1 | Fermitin family homolog 1 | Mus musculus (Mouse) | SS |
Q8CIB5 | Fermt2 | Fermitin family homolog 2 | Mus musculus (Mouse) | SS |
Q18685 | unc-112 | Protein unc-112 | Caenorhabditis elegans | SS |
F1Q8X5 | fermt2 | Fermitin family homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MVALSLKISI | GNVVKTMQFE | PSTMVYDACR | IIRERIPEAP | AGPPSDFGLF | LSDDDPKKGI |
70 | 80 | 90 | 100 | 110 | 120 |
WLEAGKALDY | YMLRNGDTME | YRKKQRPLKI | RMLDGTVKTI | MVDDSKTVTD | MLMTICARIG |
130 | 140 | 150 | 160 | 170 | 180 |
ITNHDEYSLV | RELMEEKKEE | ITGTLRKDKT | LLRDEKKMEK | LKQKLHTDDE | LNWLDHGRTL |
190 | 200 | 210 | 220 | 230 | 240 |
REQGVEEHET | LLLRRKFFYS | DQNVDSRDPV | QLNLLYVQAR | DDILNGSHPV | SFDKACEFAG |
250 | 260 | 270 | 280 | 290 | 300 |
FQCQIQFGPH | NEQKHKAGFL | DLKDFLPKEY | VKQKGERKIF | QAHKNCGQMS | EIEAKVRYVK |
310 | 320 | 330 | 340 | 350 | 360 |
LARSLKTYGV | SFFLVKEKMK | GKNKLVPRLL | GITKECVMRV | DEKTKEVIQE | WNLTNIKRWA |
370 | 380 | 390 | 400 | 410 | 420 |
ASPKSFTLDF | GDYQDGYYSV | QTTEGEQIAQ | LIAGYIDIIL | KKKKSKDHFG | LEGDEESTML |
430 | 440 | 450 | 460 | 470 | 480 |
EDSVSPKKST | VLQQQYNRVG | KVEHGSVALP | AIMRSGASGP | ENFQVGSMPP | AQQQITSGQM |
490 | 500 | 510 | 520 | 530 | 540 |
HRGHMPPLTS | AQQALTGTIN | SSMQAVQAAQ | ATLDDFDTLP | PLGQDAASKA | WRKNKMDESK |
550 | 560 | 570 | 580 | 590 | 600 |
HEIHSQVDAI | TAGTASVVNL | TAGDPAETDY | TAVGCAVTTI | SSNLTEMSRG | VKLLAALLED |
610 | 620 | 630 | 640 | 650 | 660 |
EGGSGRPLLQ | AAKGLAGAVS | ELLRSAQPAS | AEPRQNLLQA | AGNVGQASGE | LLQQIGESDT |
670 | 680 | 690 | 700 | 710 | 720 |
DPHFQDALMQ | LAKAVASAAA | ALVLKAKSVA | QRTEDSGLQT | QVIAAATQCA | LSTSQLVACT |
730 | 740 | 750 | 760 | 770 | 780 |
KVVAPTISSP | VCQEQLVEAG | RLVAKAVEGC | VSASQAATED | GQLLRGVGAA | ATAVTQALNE |
790 | 800 | 810 | 820 | 830 | 840 |
LLQHVKAHAT | GAGPAGRYDQ | ATDTILTVTE | NIFSSMGDAG | EMVRQARILA | QATSDLVNAI |
850 | 860 | 870 | 880 | 890 | 900 |
KADAEGESDL | ENSRKLLSAA | KILADATAKM | VEAAKGAAAH | PDSEEQQQRL | REAAEGLRMA |
910 | 920 | 930 | 940 | 950 | 960 |
TNAAAQNAIK | KKLVQRLEHA | AKQAAASATQ | TIAAAQHAAS | TPKASAGPQP | LLVQSCKAVA |
970 | 980 | 990 | 1000 | 1010 | 1020 |
EQIPLLVQGV | RGSQAQPDSP | SAQLALIAAS | QSFLQPGGKM | VAAAKASVPT | IQDQASAMQL |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
SQCAKNLGTA | LAELRTAAQK | AQEACGPLEM | DSALSVVQNL | EKDLQEVKAA | ARDGKLKPLP |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
GETMEKCTQD | LGNSTKAVSS | AIAQLLGEVA | QGNENYAGIA | ARDVAGGLRS | LAQAARGVAA |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
LTSDPAVQAI | VLDTASDVLD | KASSLIEEAK | KAAGHPGDPE | SQQRLAQVAK | AVTQALNRCV |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
SCLPGQRDVD | NALRAVGDAS | KRLLSDSLPP | STGTFQEAQS | RLNEAAAGLN | QAATELVQAS |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
RGTPQDLARA | SGRFGQDFST | FLEAGVEMAG | QAPSQEDRAQ | VVSNLKGISM | SSSKLLLAAK |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
ALSTDPAAPN | LKSQLAAAAR | AVTDSINQLI | TMCTQQAPGQ | KECDNALREL | ETVRELLENP |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
VQPINDMSYF | GCLDSVMENS | KVLGEAMTGI | SQNAKNGNLP | EFGDAISTAS | KALCGFTEAA |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
AQAAYLVGVS | DPNSQAGQQG | LVEPTQFARA | NQAIQMACQS | LGEPGCTQAQ | VLSAATIVAK |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
HTSALCNSCR | LASARTTNPT | AKRQFVQSAK | EVANSTANLV | KTIKALDGAF | TEENRAQCRA |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
ATAPLLEAVD | NLSAFASNPE | FSSIPAQISP | EGRAAMEPIV | ISAKTMLESA | GGLIQTARAL |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
AVNPRDPPSW | SVLAGHSRTV | SDSIKKLITS | MRDKAPGQLE | CETAIAALNS | CLRDLDQASL |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
AAVSQQLAPR | EGISQEALHT | QMLTAVQEIS | HLIEPLANAA | RAEASQLGHK | VSQMAQYFEP |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
LTLAAVGAAS | KTLSHPQQMA | LLDQTKTLAE | SALQLLYTAK | EAGGNPKQAA | HTQEALEEAV |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
QMMTEAVEDL | TTTLNEAASA | AGVVGGMVDS | ITQAINQLDE | GPMGEPEGSF | VDYQTTMVRT |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
AKAIAVTVQE | MVTKSNTSPE | ELGPLANQLT | SDYGRLASEA | KPAAVAAENE | EIGSHIKHRV |
1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
QELGHGCAAL | VTKAGALQCS | PSDAYTKKEL | IECARRVSEK | VSHVLAALQA | GNRGTQACIT |
1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
AASAVSGIIA | DLDTTIMFAT | AGTLNREGTE | TFADHREGIL | KTAKVLVEDT | KVLVQNAAGS |
2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
QEKLAQAAQS | SVATITRLAD | VVKLGAASLG | AEDPETQVVL | INAVKDVAKA | LGDLISATKA |
2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
AAGKVGDDPA | VWQLKNSAKV | MVTNVTSLLK | TVKAVEDEAT | KGTRALEATT | EHIRQELAVF |
2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
CSPEPPAKTS | TPEDFIRMTK | GITMATAKAV | AAGNSCRQED | VIATANLSRR | AIADMLRACK |
2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
EAAYHPEVAP | DVRLRALHYG | RECANGYLEL | LDHVLLTLQK | PSPELKQQLT | GHSKRVAGSV |
2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
TELIQAAEAM | KGTEWVDPED | PTVIAENELL | GAAAAIEAAA | KKLEQLKPRA | KPKEADESLN |
2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
FEEQILEAAK | SIAAATSALV | KAASAAQREL | VAQGKVGAIP | ANALDDGQWS | QGLISAARMV |
2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
AAATNNLCEA | ANAAVQGHAS | QEKLISSAKQ | VAASTAQLLV | ACKVKADQDS | EAMKRLQAAG |
2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
NAVKRASDNL | VKAAQKAAAF | EEQENETVVV | KEKMVGGIAQ | IIAAQEEMLR | KERELEEARK |
2530 | 2540 | ||||
KLAQIRQQQY | KFLPSELRDE | H |