4982627 |
c.1589A>T |
p.D530V |
Chr.2:
177231014-177231014
on Build GRCh38
|
6909966 |
c.1588G>C |
p.D530H |
Chr.2:
177231015-177231015
on Build GRCh38
|
1009926 |
c.1495C>T |
p.R499W |
Chr.2:
177231108-177231108
on Build GRCh38
|
262393 |
c.1532C>T |
p.A511V |
Chr.2:
177231071-177231071
on Build GRCh38
|
6984810 |
c.1636A>C |
p.N546H |
Chr.2:
177230967-177230967
on Build GRCh38
|
6909967 |
c.1509G>C |
p.R503S |
Chr.2:
177231094-177231094
on Build GRCh38
|
6948439 |
c.1651C>T |
p.H551Y |
Chr.2:
177230952-177230952
on Build GRCh38
|
6992251 |
c.1579C>G |
p.Q527E |
Chr.2:
177231024-177231024
on Build GRCh38
|
276324 |
c.1613A>C |
p.K538T |
Chr.2:
177230990-177230990
on Build GRCh38
|
6914590 |
c.1591C>G |
p.H531D |
Chr.2:
177231012-177231012
on Build GRCh38
|
6992794 |
c.1491A>T |
p.L497F |
Chr.2:
177231112-177231112
on Build GRCh38
|
5977634 |
c.1669C>G |
p.L557V |
Chr.2:
177230934-177230934
on Build GRCh38
|
6949365 |
c.1628A>G |
p.K543R |
Chr.2:
177230975-177230975
on Build GRCh38
|
6992252 |
c.1573C>G |
p.L525V |
Chr.2:
177231030-177231030
on Build GRCh38
|
6915501 |
c.1605A>C |
p.E535D |
Chr.2:
177230998-177230998
on Build GRCh38
|
6155442 |
c.1538A>T |
p.N513I |
Chr.2:
177231065-177231065
on Build GRCh38
|
7149909 |
c.1570G>C |
p.E524Q |
Chr.2:
177231033-177231033
on Build GRCh38
|
1217203 |
c.1504C>T |
p.R502C |
Chr.2:
177231099-177231099
on Build GRCh38
|
6851008 |
c.1654C>T |
p.L552L |
Chr.2:
177230949-177230949
on Build GRCh38
|
418470 |
c.1597A>C |
p.K533Q |
Chr.2:
177231006-177231006
on Build GRCh38
|
6217829 |
c.1522A>G |
p.K508E |
Chr.2:
177231081-177231081
on Build GRCh38
|
461297 |
c.1544G>C |
p.R515T |
Chr.2:
177231059-177231059
on Build GRCh38
|
3570234 |
c.1514G>A |
p.G505D |
Chr.2:
177231089-177231089
on Build GRCh38
|
6924648 |
c.1480C>A |
p.Q494K |
Chr.2:
177231123-177231123
on Build GRCh38
|
353056 |
c.1518G>C |
p.K506N |
Chr.2:
177231085-177231085
on Build GRCh38
|
6967128 |
c.1576G>C |
p.E526Q |
Chr.2:
177231027-177231027
on Build GRCh38
|
3570235 |
c.1509G>A |
p.R503R |
Chr.2:
177231094-177231094
on Build GRCh38
|
4613081 |
c.1665_1666insA |
p.Q556fs*15 |
Chr.2:
177230937-177230938
on Build GRCh38
|
476255 |
c.1610A>G |
p.E537G |
Chr.2:
177230993-177230993
on Build GRCh38
|
1401474 |
c.1687G>A |
p.E563K |
Chr.2:
177230916-177230916
on Build GRCh38
|
6975980 |
c.1507A>T |
p.R503W |
Chr.2:
177231096-177231096
on Build GRCh38
|
1401475 |
c.1646G>T |
p.S549I |
Chr.2:
177230957-177230957
on Build GRCh38
|
6491509 |
c.1480C>G |
p.Q494E |
Chr.2:
177231123-177231123
on Build GRCh38
|