463195 |
c.1219+2T>G |
p.? |
Chr.1:
158089630-158089630
on Build GRCh38
|
6201956 |
c.1096G>A |
p.A366T |
Chr.1:
158089553-158089553
on Build GRCh38
|
5727879 |
c.1260C>T |
p.P420P |
Chr.1:
158089806-158089806
on Build GRCh38
|
897632 |
c.1284G>T |
p.E428D |
Chr.1:
158089782-158089782
on Build GRCh38
|
4925259 |
c.1138G>A |
p.V380M |
Chr.1:
158089595-158089595
on Build GRCh38
|
1985701 |
c.1220A>T |
p.D407V |
Chr.1:
158089766-158089766
on Build GRCh38
|
6346268 |
c.1115G>T |
p.R372L |
Chr.1:
158089572-158089572
on Build GRCh38
|
1583565 |
c.1174C>T |
p.P392S |
Chr.1:
158089720-158089720
on Build GRCh38
|
5844072 |
c.553G>A |
p.V185I |
Chr.1:
158089502-158089502
on Build GRCh38
|
4696292 |
c.1306C>A |
p.P436T |
Chr.1:
158089804-158089804
on Build GRCh38
|
1335125 |
c.1222delC |
p.I410fs*11 |
Chr.1:
158089720-158089720
on Build GRCh38
|
6408141 |
c.619T>A |
p.C207S |
Chr.1:
158089568-158089568
on Build GRCh38
|
5645103 |
c.1204C>G |
p.P402A |
Chr.1:
158089613-158089613
on Build GRCh38
|
4223513 |
c.587C>T |
p.S196L |
Chr.1:
158089536-158089536
on Build GRCh38
|
1295265 |
c.720G>C |
p.V240V |
Chr.1:
158089758-158089758
on Build GRCh38
|
266787 |
c.680G>T |
p.G227V |
Chr.1:
158089718-158089718
on Build GRCh38
|
1335126 |
c.1266C>G |
p.D422E |
Chr.1:
158089812-158089812
on Build GRCh38
|
1583566 |
c.1159C>T |
p.L387F |
Chr.1:
158089616-158089616
on Build GRCh38
|
7320707 |
c.1269C>T |
p.D423D |
Chr.1:
158089767-158089767
on Build GRCh38
|
3788871 |
c.633G>T |
p.V211V |
Chr.1:
158089582-158089582
on Build GRCh38
|
3788872 |
c.1173G>T |
p.V391V |
Chr.1:
158089582-158089582
on Build GRCh38
|
5645102 |
c.664C>G |
p.P222A |
Chr.1:
158089613-158089613
on Build GRCh38
|
5917244 |
c.1219+1G>A |
p.? |
Chr.1:
158089629-158089629
on Build GRCh38
|
3475902 |
c.1226C>T |
p.P409L |
Chr.1:
158089724-158089724
on Build GRCh38
|
4023598 |
c.740T>C |
p.V247A |
Chr.1:
158089778-158089778
on Build GRCh38
|
6408142 |
c.1159T>A |
p.C387S |
Chr.1:
158089568-158089568
on Build GRCh38
|
5645101 |
c.1156C>G |
p.P386A |
Chr.1:
158089613-158089613
on Build GRCh38
|
6695954 |
c.1277A>G |
p.K426R |
Chr.1:
158089775-158089775
on Build GRCh38
|
6058455 |
c.1172G>T |
p.G391V |
Chr.1:
158089718-158089718
on Build GRCh38
|
3475903 |
c.1182C>T |
p.I394I |
Chr.1:
158089728-158089728
on Build GRCh38
|
5896551 |
c.1198G>T |
p.E400* |
Chr.1:
158089607-158089607
on Build GRCh38
|
897627 |
c.667C>T |
p.L223F |
Chr.1:
158089616-158089616
on Build GRCh38
|
7320706 |
c.1221C>T |
p.D407D |
Chr.1:
158089767-158089767
on Build GRCh38
|
6299003 |
c.775C>T |
p.R259C |
Chr.1:
158089813-158089813
on Build GRCh38
|
6201957 |
c.604G>A |
p.A202T |
Chr.1:
158089553-158089553
on Build GRCh38
|
897630 |
c.1222C>T |
p.P408S |
Chr.1:
158089720-158089720
on Build GRCh38
|
5483607 |
c.1274G>A |
p.G425D |
Chr.1:
158089772-158089772
on Build GRCh38
|
3475904 |
c.690C>T |
p.I230I |
Chr.1:
158089728-158089728
on Build GRCh38
|
4912001 |
c.1211T>C |
p.V404A |
Chr.1:
158089757-158089757
on Build GRCh38
|
3788870 |
c.1125G>T |
p.V375V |
Chr.1:
158089582-158089582
on Build GRCh38
|
5483605 |
c.1226G>A |
p.G409D |
Chr.1:
158089772-158089772
on Build GRCh38
|
1583564 |
c.1236G>T |
p.E412D |
Chr.1:
158089782-158089782
on Build GRCh38
|
1985703 |
c.1268A>T |
p.D423V |
Chr.1:
158089766-158089766
on Build GRCh38
|
358226 |
c.642C>T |
p.I214I |
Chr.1:
158089591-158089591
on Build GRCh38
|
4925260 |
c.646G>A |
p.V216M |
Chr.1:
158089595-158089595
on Build GRCh38
|
5896550 |
c.658G>T |
p.E220* |
Chr.1:
158089607-158089607
on Build GRCh38
|
1985689 |
c.1153G>T |
p.V385L |
Chr.1:
158089610-158089610
on Build GRCh38
|
1134736 |
c.1171+2T>G |
p.? |
Chr.1:
158089630-158089630
on Build GRCh38
|
1335123 |
c.1174delC |
p.I394fs*11 |
Chr.1:
158089720-158089720
on Build GRCh38
|
6695951 |
c.1079_1080delCT |
p.S362fs*6 |
Chr.1:
158089488-158089489
on Build GRCh38
|
3930443 |
c.1154T>G |
p.V385G |
Chr.1:
158089611-158089611
on Build GRCh38
|
5727881 |
c.1308C>T |
p.P436P |
Chr.1:
158089806-158089806
on Build GRCh38
|
5469655 |
c.761C>T |
p.T254I |
Chr.1:
158089799-158089799
on Build GRCh38
|
463194 |
c.679+2T>G |
p.? |
Chr.1:
158089630-158089630
on Build GRCh38
|
1472806 |
c.1071G>T |
p.L357L |
Chr.1:
158089528-158089528
on Build GRCh38
|
3475900 |
c.1178C>T |
p.P393L |
Chr.1:
158089724-158089724
on Build GRCh38
|
3930444 |
c.662T>G |
p.V221G |
Chr.1:
158089611-158089611
on Build GRCh38
|
3930445 |
c.1202T>G |
p.V401G |
Chr.1:
158089611-158089611
on Build GRCh38
|
6299004 |
c.1315C>T |
p.R439C |
Chr.1:
158089813-158089813
on Build GRCh38
|
5844071 |
c.1045G>A |
p.V349I |
Chr.1:
158089502-158089502
on Build GRCh38
|
1985691 |
c.1201G>T |
p.V401L |
Chr.1:
158089610-158089610
on Build GRCh38
|
6349782 |
c.679G>A |
p.G227R |
Chr.1:
158089628-158089628
on Build GRCh38
|
1179622 |
c.1170C>T |
p.N390N |
Chr.1:
158089627-158089627
on Build GRCh38
|
4023599 |
c.1280T>C |
p.V427A |
Chr.1:
158089778-158089778
on Build GRCh38
|
4696291 |
c.766C>A |
p.P256T |
Chr.1:
158089804-158089804
on Build GRCh38
|
5727880 |
c.768C>T |
p.P256P |
Chr.1:
158089806-158089806
on Build GRCh38
|
1295266 |
c.1260G>C |
p.V420V |
Chr.1:
158089758-158089758
on Build GRCh38
|
4223514 |
c.1127C>T |
p.S376L |
Chr.1:
158089536-158089536
on Build GRCh38
|
5917243 |
c.679+1G>A |
p.? |
Chr.1:
158089629-158089629
on Build GRCh38
|
5917242 |
c.1171+1G>A |
p.? |
Chr.1:
158089629-158089629
on Build GRCh38
|
4912002 |
c.719T>C |
p.V240A |
Chr.1:
158089757-158089757
on Build GRCh38
|
1985702 |
c.728A>T |
p.D243V |
Chr.1:
158089766-158089766
on Build GRCh38
|
6299002 |
c.1267C>T |
p.R423C |
Chr.1:
158089813-158089813
on Build GRCh38
|
6695919 |
c.603_604insGCTGG |
p.T204fs*24 |
Chr.1:
158089552-158089553
on Build GRCh38
|
139326 |
c.647T>A |
p.V216E |
Chr.1:
158089596-158089596
on Build GRCh38
|
6408140 |
c.1111T>A |
p.C371S |
Chr.1:
158089568-158089568
on Build GRCh38
|
3863107 |
c.1115G>A |
p.R372Q |
Chr.1:
158089572-158089572
on Build GRCh38
|
1335127 |
c.774C>G |
p.D258E |
Chr.1:
158089812-158089812
on Build GRCh38
|
424206 |
c.1119G>T |
p.L373L |
Chr.1:
158089528-158089528
on Build GRCh38
|
1179624 |
c.1218C>T |
p.N406N |
Chr.1:
158089627-158089627
on Build GRCh38
|
4925261 |
c.1186G>A |
p.V396M |
Chr.1:
158089595-158089595
on Build GRCh38
|
6695918 |
c.1095_1096insGCTGG |
p.T368fs*24 |
Chr.1:
158089552-158089553
on Build GRCh38
|
6349783 |
c.1219G>A |
p.G407R |
Chr.1:
158089628-158089628
on Build GRCh38
|
897631 |
c.744G>T |
p.E248D |
Chr.1:
158089782-158089782
on Build GRCh38
|
1179623 |
c.678C>T |
p.N226N |
Chr.1:
158089627-158089627
on Build GRCh38
|
897628 |
c.1207C>T |
p.L403F |
Chr.1:
158089616-158089616
on Build GRCh38
|
3475901 |
c.686C>T |
p.P229L |
Chr.1:
158089724-158089724
on Build GRCh38
|
3863108 |
c.623G>A |
p.R208Q |
Chr.1:
158089572-158089572
on Build GRCh38
|
3863109 |
c.1163G>A |
p.R388Q |
Chr.1:
158089572-158089572
on Build GRCh38
|
6346269 |
c.623G>T |
p.R208L |
Chr.1:
158089572-158089572
on Build GRCh38
|
6695952 |
c.1229A>G |
p.K410R |
Chr.1:
158089775-158089775
on Build GRCh38
|
358227 |
c.1182C>T |
p.I394I |
Chr.1:
158089591-158089591
on Build GRCh38
|
4223512 |
c.1079C>T |
p.S360L |
Chr.1:
158089536-158089536
on Build GRCh38
|
5469654 |
c.1253C>T |
p.T418I |
Chr.1:
158089799-158089799
on Build GRCh38
|
6695920 |
c.1143_1144insGCTGG |
p.T384fs*24 |
Chr.1:
158089552-158089553
on Build GRCh38
|
139327 |
c.1187T>A |
p.V396E |
Chr.1:
158089596-158089596
on Build GRCh38
|
6349781 |
c.1171G>A |
p.G391R |
Chr.1:
158089628-158089628
on Build GRCh38
|
424205 |
c.579G>T |
p.L193L |
Chr.1:
158089528-158089528
on Build GRCh38
|
7320708 |
c.729C>T |
p.D243D |
Chr.1:
158089767-158089767
on Build GRCh38
|
5896549 |
c.1150G>T |
p.E384* |
Chr.1:
158089607-158089607
on Build GRCh38
|
1985690 |
c.661G>T |
p.V221L |
Chr.1:
158089610-158089610
on Build GRCh38
|
1335128 |
c.1314C>G |
p.D438E |
Chr.1:
158089812-158089812
on Build GRCh38
|
6201958 |
c.1144G>A |
p.A382T |
Chr.1:
158089553-158089553
on Build GRCh38
|
5483606 |
c.734G>A |
p.G245D |
Chr.1:
158089772-158089772
on Build GRCh38
|
5844073 |
c.1093G>A |
p.V365I |
Chr.1:
158089502-158089502
on Build GRCh38
|
4023597 |
c.1232T>C |
p.V411A |
Chr.1:
158089778-158089778
on Build GRCh38
|
4520272 |
c.1050G>A |
p.L350L |
Chr.1:
158089507-158089507
on Build GRCh38
|
1295264 |
c.1212G>C |
p.V404V |
Chr.1:
158089758-158089758
on Build GRCh38
|
1583567 |
c.1134C>T |
p.I378I |
Chr.1:
158089591-158089591
on Build GRCh38
|
1335124 |
c.682delC |
p.I230fs*11 |
Chr.1:
158089720-158089720
on Build GRCh38
|
4912003 |
c.1259T>C |
p.V420A |
Chr.1:
158089757-158089757
on Build GRCh38
|
266788 |
c.1220G>T |
p.G407V |
Chr.1:
158089718-158089718
on Build GRCh38
|
6346270 |
c.1163G>T |
p.R388L |
Chr.1:
158089572-158089572
on Build GRCh38
|
897629 |
c.682C>T |
p.P228S |
Chr.1:
158089720-158089720
on Build GRCh38
|
4520274 |
c.1098G>A |
p.L366L |
Chr.1:
158089507-158089507
on Build GRCh38
|
5469656 |
c.1301C>T |
p.T434I |
Chr.1:
158089799-158089799
on Build GRCh38
|
6695953 |
c.737A>G |
p.K246R |
Chr.1:
158089775-158089775
on Build GRCh38
|
3475905 |
c.1230C>T |
p.I410I |
Chr.1:
158089728-158089728
on Build GRCh38
|
4696290 |
c.1258C>A |
p.P420T |
Chr.1:
158089804-158089804
on Build GRCh38
|
4520273 |
c.558G>A |
p.L186L |
Chr.1:
158089507-158089507
on Build GRCh38
|