3419501 |
c.1225A>C |
p.K409Q |
Chr.1:
8013374-8013374
on Build GRCh38
|
5040962 |
c.1178A>G |
p.H393R |
Chr.1:
8013421-8013421
on Build GRCh38
|
6950803 |
c.1249A>G |
p.T417A |
Chr.1:
8013350-8013350
on Build GRCh38
|
3492651 |
c.1270C>T |
p.Q424* |
Chr.1:
8013329-8013329
on Build GRCh38
|
7340752 |
c.1256delG |
p.G419fs*33 |
Chr.1:
8013343-8013343
on Build GRCh38
|
4749551 |
c.1343G>A |
p.G448D |
Chr.1:
8013256-8013256
on Build GRCh38
|
6328229 |
c.1199G>A |
p.R400Q |
Chr.1:
8013400-8013400
on Build GRCh38
|
6312919 |
c.1363C>A |
p.H455N |
Chr.1:
8013236-8013236
on Build GRCh38
|
6986459 |
c.1328C>G |
p.T443R |
Chr.1:
8013271-8013271
on Build GRCh38
|
6947469 |
c.1165G>A |
p.V389I |
Chr.1:
8013434-8013434
on Build GRCh38
|
4821819 |
c.1161G>A |
p.K387K |
Chr.1:
8013438-8013438
on Build GRCh38
|
6333435 |
c.1320C>A |
p.D440E |
Chr.1:
8013279-8013279
on Build GRCh38
|
4654779 |
c.1258G>C |
p.G420R |
Chr.1:
8013341-8013341
on Build GRCh38
|
6940902 |
c.1172C>A |
p.S391* |
Chr.1:
8013427-8013427
on Build GRCh38
|
6246966 |
c.1307C>A |
p.T436K |
Chr.1:
8013292-8013292
on Build GRCh38
|
6980597 |
c.1227A>C |
p.K409N |
Chr.1:
8013372-8013372
on Build GRCh38
|
2243020 |
c.1272G>A |
p.Q424Q |
Chr.1:
8013327-8013327
on Build GRCh38
|
6984223 |
c.1157G>A |
p.G386E |
Chr.1:
8013442-8013442
on Build GRCh38
|
4681679 |
c.1233delT |
p.F411fs*41 |
Chr.1:
8013366-8013366
on Build GRCh38
|
4460942 |
c.1185C>T |
p.Y395Y |
Chr.1:
8013414-8013414
on Build GRCh38
|
4601990 |
c.1336delG |
p.D446fs*6 |
Chr.1:
8013263-8013263
on Build GRCh38
|
179996 |
c.1261G>A |
p.A421T |
Chr.1:
8013338-8013338
on Build GRCh38
|
6127519 |
c.1154A>T |
p.N385I |
Chr.1:
8013445-8013445
on Build GRCh38
|
6939202 |
c.1224A>C |
p.E408D |
Chr.1:
8013375-8013375
on Build GRCh38
|
4010086 |
c.1379T>C |
p.V460A |
Chr.1:
8013220-8013220
on Build GRCh38
|
6939201 |
c.1232T>G |
p.F411C |
Chr.1:
8013367-8013367
on Build GRCh38
|
6939701 |
c.1370_1371CC>TT |
p.S457F |
Chr.1:
8013228-8013229
on Build GRCh38
|
1660080 |
c.1211T>G |
p.L404R |
Chr.1:
8013388-8013388
on Build GRCh38
|
6969981 |
c.1336G>T |
p.D446Y |
Chr.1:
8013263-8013263
on Build GRCh38
|
5881800 |
c.1226A>T |
p.K409I |
Chr.1:
8013373-8013373
on Build GRCh38
|
5811662 |
c.1279C>A |
p.P427T |
Chr.1:
8013320-8013320
on Build GRCh38
|
386031 |
c.1358G>A |
p.R453H |
Chr.1:
8013241-8013241
on Build GRCh38
|
1344462 |
c.1227A>T |
p.K409N |
Chr.1:
8013372-8013372
on Build GRCh38
|
5847354 |
c.1256G>A |
p.G419E |
Chr.1:
8013343-8013343
on Build GRCh38
|
1602699 |
c.1269C>T |
p.I423I |
Chr.1:
8013330-8013330
on Build GRCh38
|
681969 |
c.1282G>T |
p.A428S |
Chr.1:
8013317-8013317
on Build GRCh38
|
5619121 |
c.1353G>A |
p.V451V |
Chr.1:
8013246-8013246
on Build GRCh38
|
6961812 |
c.1237G>A |
p.E413K |
Chr.1:
8013362-8013362
on Build GRCh38
|
5464259 |
c.1376T>C |
p.V459A |
Chr.1:
8013223-8013223
on Build GRCh38
|
350120 |
c.1322C>G |
p.S441* |
Chr.1:
8013277-8013277
on Build GRCh38
|
6954908 |
c.1318G>T |
p.D440Y |
Chr.1:
8013281-8013281
on Build GRCh38
|