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
|
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
|
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
|
3480966 |
c.1224G>A |
p.Q408Q |
Chr.1:
197002558-197002558
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
|
2125122 |
c.1148-1_1148insA |
p.R385fs*13 |
Chr.1:
197002481-197002482
on Build GRCh38
|
4428492 |
c.1238G>T |
p.C413F |
Chr.1:
197002500-197002500
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
|
6209736 |
c.1225A>G |
p.R409G |
Chr.1:
197002487-197002487
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
|
5528599 |
c.1229G>A |
p.G410E |
Chr.1:
197002563-197002563
on Build GRCh38
|
1236630 |
c.1196A>G |
p.Q399R |
Chr.1:
197002530-197002530
on Build GRCh38
|
5352989 |
c.1244C>T |
p.P415L |
Chr.1:
197002506-197002506
on Build GRCh38
|
4460955 |
c.1187C>T |
p.P396L |
Chr.1:
197002521-197002521
on Build GRCh38
|
6627542 |
c.1232A>G |
p.Q411R |
Chr.1:
197002494-197002494
on Build GRCh38
|
4428491 |
c.1166G>T |
p.C389F |
Chr.1:
197002500-197002500
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
|
4576725 |
c.1237T>C |
p.C413R |
Chr.1:
197002499-197002499
on Build GRCh38
|
6209735 |
c.1153A>G |
p.R385G |
Chr.1:
197002487-197002487
on Build GRCh38
|
1127198 |
c.1173G>A |
p.P391P |
Chr.1:
197002507-197002507
on Build GRCh38
|
3480967 |
c.1296G>A |
p.Q432Q |
Chr.1:
197002558-197002558
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
|
5844980 |
c.1148A>G |
p.E383G |
Chr.1:
197002482-197002482
on Build GRCh38
|