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
  • Cell projection, ruffle membrane ; Peripheral membrane protein ; Cytoplasmic side
  • Cytoplasm, cytoskeleton
  • Cell surface
  • Cell junction, focal adhesion
  • Colocalizes with LAYN at the membrane ruffles
  • Localized preferentially in focal adhesions than fibrillar adhesions (By similarity)
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