5768476 |
c.1189C>G |
p.Q397E |
Chr.1:
200650550-200650550
on Build GRCh38
|
70425 |
c.1142T>C |
p.I381T |
Chr.1:
200650597-200650597
on Build GRCh38
|
1337702 |
c.1211G>T |
p.R404I |
Chr.1:
200650528-200650528
on Build GRCh38
|
4948393 |
c.1211G>T |
p.R404I |
Chr.1:
200650528-200650528
on Build GRCh38
|
6898469 |
c.1063-1G>A |
p.? |
Chr.1:
200650677-200650677
on Build GRCh38
|
5032612 |
c.1252C>T |
p.R418C |
Chr.1:
200650487-200650487
on Build GRCh38
|
5052955 |
c.1150T>C |
p.S384P |
Chr.1:
200650589-200650589
on Build GRCh38
|
7164313 |
c.1151C>T |
p.S384L |
Chr.1:
200650588-200650588
on Build GRCh38
|
1337701 |
c.1211G>T |
p.R404I |
Chr.1:
200650528-200650528
on Build GRCh38
|
5845043 |
c.1259T>G |
p.I420S |
Chr.1:
200650480-200650480
on Build GRCh38
|
5032614 |
c.1252C>T |
p.R418C |
Chr.1:
200650487-200650487
on Build GRCh38
|
4026788 |
c.1230G>T |
p.K410N |
Chr.1:
200650509-200650509
on Build GRCh38
|
5052954 |
c.1150T>C |
p.S384P |
Chr.1:
200650589-200650589
on Build GRCh38
|
5032613 |
c.1252C>T |
p.R418C |
Chr.1:
200650487-200650487
on Build GRCh38
|
7164312 |
c.1151C>T |
p.S384L |
Chr.1:
200650588-200650588
on Build GRCh38
|
4026789 |
c.1230G>T |
p.K410N |
Chr.1:
200650509-200650509
on Build GRCh38
|
4864608 |
c.1121T>G |
p.I374S |
Chr.1:
200650618-200650618
on Build GRCh38
|
6009710 |
c.1163C>T |
p.P388L |
Chr.1:
200650576-200650576
on Build GRCh38
|
5435580 |
c.1063_1066delGCTG |
p.A355fs*4 |
Chr.1:
200650673-200650676
on Build GRCh38
|
5435583 |
c.1063-14_1063-3delCAATTTTATTTT |
p.? |
Chr.1:
200650679-200650690
on Build GRCh38
|
4872389 |
c.1106A>G |
p.D369G |
Chr.1:
200650633-200650633
on Build GRCh38
|
7310170 |
c.1136A>T |
p.Q379L |
Chr.1:
200650603-200650603
on Build GRCh38
|
5845042 |
c.1259T>G |
p.I420S |
Chr.1:
200650480-200650480
on Build GRCh38
|
5845044 |
c.1259T>G |
p.I420S |
Chr.1:
200650480-200650480
on Build GRCh38
|
5768475 |
c.1189C>G |
p.Q397E |
Chr.1:
200650550-200650550
on Build GRCh38
|
4026787 |
c.1230G>T |
p.K410N |
Chr.1:
200650509-200650509
on Build GRCh38
|
6009712 |
c.1163C>T |
p.P388L |
Chr.1:
200650576-200650576
on Build GRCh38
|
6898468 |
c.1063-1G>A |
p.? |
Chr.1:
200650677-200650677
on Build GRCh38
|
901969 |
c.1121T>G |
p.I374S |
Chr.1:
200650618-200650618
on Build GRCh38
|
901971 |
c.1106A>G |
p.D369G |
Chr.1:
200650633-200650633
on Build GRCh38
|
5435584 |
c.1063-14_1063-3delCAATTTTATTTT |
p.? |
Chr.1:
200650679-200650690
on Build GRCh38
|
6009711 |
c.1163C>T |
p.P388L |
Chr.1:
200650576-200650576
on Build GRCh38
|
901970 |
c.1106A>G |
p.D369G |
Chr.1:
200650633-200650633
on Build GRCh38
|
5435579 |
c.1063_1066delGCTG |
p.A355fs*4 |
Chr.1:
200650673-200650676
on Build GRCh38
|
5435582 |
c.1063-14_1063-3delCAATTTTATTTT |
p.? |
Chr.1:
200650679-200650690
on Build GRCh38
|
5052953 |
c.1150T>C |
p.S384P |
Chr.1:
200650589-200650589
on Build GRCh38
|
1729901 |
c.1136A>T |
p.Q379L |
Chr.1:
200650603-200650603
on Build GRCh38
|
6898470 |
c.1063-1G>A |
p.? |
Chr.1:
200650677-200650677
on Build GRCh38
|
901968 |
c.1121T>G |
p.I374S |
Chr.1:
200650618-200650618
on Build GRCh38
|
5435581 |
c.1063_1066delGCTG |
p.A355fs*4 |
Chr.1:
200650673-200650676
on Build GRCh38
|
1729900 |
c.1136A>T |
p.Q379L |
Chr.1:
200650603-200650603
on Build GRCh38
|
5768477 |
c.1189C>G |
p.Q397E |
Chr.1:
200650550-200650550
on Build GRCh38
|
7164314 |
c.1151C>T |
p.S384L |
Chr.1:
200650588-200650588
on Build GRCh38
|