5528600 |
c.1301G>A |
p.G434E |
Chr.1:
197002563-197002563
on Build GRCh38
|
5844981 |
c.1220A>G |
p.E407G |
Chr.1:
197002482-197002482
on Build GRCh38
|
5352988 |
c.1172C>T |
p.P391L |
Chr.1:
197002506-197002506
on Build GRCh38
|
7297372 |
c.1257A>G |
p.I419M |
Chr.1:
197002519-197002519
on Build GRCh38
|
4601345 |
c.1291T>G |
p.C431G |
Chr.1:
197002625-197002625
on Build GRCh38
|
3480966 |
c.1224G>A |
p.Q408Q |
Chr.1:
197002558-197002558
on Build GRCh38
|
5379026 |
c.1255G>A |
p.E419K |
Chr.1:
197002589-197002589
on Build GRCh38
|
4576724 |
c.1165T>C |
p.C389R |
Chr.1:
197002499-197002499
on Build GRCh38
|
230890 |
c.1156G>A |
p.E386K |
Chr.1:
197002490-197002490
on Build GRCh38
|
4451552 |
c.1353A>T |
p.K451N |
Chr.1:
197002615-197002615
on Build GRCh38
|
3803338 |
c.1317A>G |
p.L439L |
Chr.1:
197002651-197002651
on Build GRCh38
|
4428492 |
c.1238G>T |
p.C413F |
Chr.1:
197002500-197002500
on Build GRCh38
|
3803337 |
c.1354G>C |
p.E452Q |
Chr.1:
197002616-197002616
on Build GRCh38
|
6209736 |
c.1225A>G |
p.R409G |
Chr.1:
197002487-197002487
on Build GRCh38
|
2125132 |
c.1303C>T |
p.R435* |
Chr.1:
197002637-197002637
on Build GRCh38
|
6060763 |
c.1322G>T |
p.R441L |
Chr.1:
197002656-197002656
on Build GRCh38
|
5036637 |
c.1281A>C |
p.K427N |
Chr.1:
197002615-197002615
on Build GRCh38
|
4403993 |
c.1282G>A |
p.E428K |
Chr.1:
197002616-197002616
on Build GRCh38
|
5352989 |
c.1244C>T |
p.P415L |
Chr.1:
197002506-197002506
on Build GRCh38
|
1236630 |
c.1196A>G |
p.Q399R |
Chr.1:
197002530-197002530
on Build GRCh38
|
6060766 |
c.1322G>T |
p.C441F |
Chr.1:
197002584-197002584
on Build GRCh38
|
4460955 |
c.1187C>T |
p.P396L |
Chr.1:
197002521-197002521
on Build GRCh38
|
5379027 |
c.1327G>A |
p.E443K |
Chr.1:
197002589-197002589
on Build GRCh38
|
6627542 |
c.1232A>G |
p.Q411R |
Chr.1:
197002494-197002494
on Build GRCh38
|
4576723 |
c.1228G>A |
p.E410K |
Chr.1:
197002490-197002490
on Build GRCh38
|
2125123 |
c.1220-1_1220insA |
p.R409fs*13 |
Chr.1:
197002481-197002482
on Build GRCh38
|
3480972 |
c.1330+2T>C |
p.? |
Chr.1:
197002666-197002666
on Build GRCh38
|
4026570 |
c.1308G>A |
p.W436* |
Chr.1:
197002642-197002642
on Build GRCh38
|
6209735 |
c.1153A>G |
p.R385G |
Chr.1:
197002487-197002487
on Build GRCh38
|
5938601 |
c.1372G>A |
p.G458R |
Chr.1:
197002634-197002634
on Build GRCh38
|
3480968 |
c.1304G>A |
p.R435Q |
Chr.1:
197002638-197002638
on Build GRCh38
|
3480971 |
c.1390C>T |
p.P464S |
Chr.1:
197002652-197002652
on Build GRCh38
|
4026569 |
c.1313C>T |
p.A438V |
Chr.1:
197002575-197002575
on Build GRCh38
|
3480967 |
c.1296G>A |
p.Q432Q |
Chr.1:
197002558-197002558
on Build GRCh38
|
5844980 |
c.1148A>G |
p.E383G |
Chr.1:
197002482-197002482
on Build GRCh38
|
5036638 |
c.1353A>C |
p.K451N |
Chr.1:
197002615-197002615
on Build GRCh38
|
5844983 |
c.1277C>T |
p.T426I |
Chr.1:
197002539-197002539
on Build GRCh38
|
6627541 |
c.1160A>G |
p.Q387R |
Chr.1:
197002494-197002494
on Build GRCh38
|
1500627 |
c.1241C>T |
p.A414V |
Chr.1:
197002575-197002575
on Build GRCh38
|
6392037 |
c.1391C>A |
p.P464Q |
Chr.1:
197002653-197002653
on Build GRCh38
|
5379028 |
c.1301G>A |
p.G434E |
Chr.1:
197002635-197002635
on Build GRCh38
|
2125122 |
c.1148-1_1148insA |
p.R385fs*13 |
Chr.1:
197002481-197002482
on Build GRCh38
|
4403994 |
c.1354G>A |
p.E452K |
Chr.1:
197002616-197002616
on Build GRCh38
|
5379029 |
c.1373G>A |
p.G458E |
Chr.1:
197002635-197002635
on Build GRCh38
|
3803336 |
c.1282G>C |
p.E428Q |
Chr.1:
197002616-197002616
on Build GRCh38
|
6215405 |
c.1402+8G>T |
p.? |
Chr.1:
197002672-197002672
on Build GRCh38
|
3803339 |
c.1389A>G |
p.L463L |
Chr.1:
197002651-197002651
on Build GRCh38
|
4460956 |
c.1259C>T |
p.P420L |
Chr.1:
197002521-197002521
on Build GRCh38
|
7297371 |
c.1185A>G |
p.I395M |
Chr.1:
197002519-197002519
on Build GRCh38
|
6060765 |
c.1250G>T |
p.C417F |
Chr.1:
197002584-197002584
on Build GRCh38
|
3803335 |
c.1245G>A |
p.P415P |
Chr.1:
197002507-197002507
on Build GRCh38
|
5638405 |
c.1180C>T |
p.Q394* |
Chr.1:
197002514-197002514
on Build GRCh38
|
6392036 |
c.1319C>A |
p.P440Q |
Chr.1:
197002653-197002653
on Build GRCh38
|
5528599 |
c.1229G>A |
p.G410E |
Chr.1:
197002563-197002563
on Build GRCh38
|
4026571 |
c.1380G>A |
p.W460* |
Chr.1:
197002642-197002642
on Build GRCh38
|
6060764 |
c.1394G>T |
p.R465L |
Chr.1:
197002656-197002656
on Build GRCh38
|
361430 |
c.1252A>G |
p.K418E |
Chr.1:
197002586-197002586
on Build GRCh38
|
4451551 |
c.1281A>T |
p.K427N |
Chr.1:
197002615-197002615
on Build GRCh38
|
5938600 |
c.1300G>A |
p.G434R |
Chr.1:
197002634-197002634
on Build GRCh38
|
4822019 |
c.1394G>A |
p.R465H |
Chr.1:
197002656-197002656
on Build GRCh38
|
4428491 |
c.1166G>T |
p.C389F |
Chr.1:
197002500-197002500
on Build GRCh38
|
4576725 |
c.1237T>C |
p.C413R |
Chr.1:
197002499-197002499
on Build GRCh38
|
6215404 |
c.1330+8G>T |
p.? |
Chr.1:
197002672-197002672
on Build GRCh38
|
3480970 |
c.1318C>T |
p.P440S |
Chr.1:
197002652-197002652
on Build GRCh38
|
1127198 |
c.1173G>A |
p.P391P |
Chr.1:
197002507-197002507
on Build GRCh38
|
4822018 |
c.1322G>A |
p.R441H |
Chr.1:
197002656-197002656
on Build GRCh38
|
3480973 |
c.1402+2T>C |
p.? |
Chr.1:
197002666-197002666
on Build GRCh38
|
2125133 |
c.1375C>T |
p.R459* |
Chr.1:
197002637-197002637
on Build GRCh38
|
5844982 |
c.1205C>T |
p.T402I |
Chr.1:
197002539-197002539
on Build GRCh38
|
5638406 |
c.1252C>T |
p.Q418* |
Chr.1:
197002514-197002514
on Build GRCh38
|
4601346 |
c.1363T>G |
p.C455G |
Chr.1:
197002625-197002625
on Build GRCh38
|
3480969 |
c.1376G>A |
p.R459Q |
Chr.1:
197002638-197002638
on Build GRCh38
|