6914112 |
c.469G>C |
p.D157H |
Chr.12:
45817720-45817720
on Build GRCh38
|
1628602 |
c.551C>G |
p.S184* |
Chr.12:
45817802-45817802
on Build GRCh38
|
7325431 |
c.568G>A |
p.V190I |
Chr.12:
45817819-45817819
on Build GRCh38
|
265477 |
c.520G>T |
p.D174Y |
Chr.12:
45817771-45817771
on Build GRCh38
|
7329245 |
c.502G>T |
p.G168* |
Chr.12:
45817753-45817753
on Build GRCh38
|
5953323 |
c.487C>T |
p.L163F |
Chr.12:
45817738-45817738
on Build GRCh38
|
6969097 |
c.542_543delCT |
p.L182fs*4 |
Chr.12:
45817793-45817794
on Build GRCh38
|
1676888 |
c.551C>A |
p.S184* |
Chr.12:
45817802-45817802
on Build GRCh38
|
268707 |
c.521A>G |
p.D174G |
Chr.12:
45817772-45817772
on Build GRCh38
|
4041980 |
c.484G>T |
p.V162L |
Chr.12:
45817735-45817735
on Build GRCh38
|
6890882 |
c.533A>C |
p.N178T |
Chr.12:
45817784-45817784
on Build GRCh38
|
7447833 |
c.540C>A |
p.C180* |
Chr.12:
45817791-45817791
on Build GRCh38
|
4041981 |
c.535G>A |
p.V179I |
Chr.12:
45817786-45817786
on Build GRCh38
|
4450131 |
c.457delA |
p.N153fs*62 |
Chr.12:
45817708-45817708
on Build GRCh38
|
6986560 |
c.509C>G |
p.P170R |
Chr.12:
45817760-45817760
on Build GRCh38
|
6975423 |
c.502G>A |
p.G168R |
Chr.12:
45817753-45817753
on Build GRCh38
|
6072643 |
c.482T>A |
p.L161* |
Chr.12:
45817733-45817733
on Build GRCh38
|
274040 |
c.541A>G |
p.T181A |
Chr.12:
45817792-45817792
on Build GRCh38
|
159178 |
c.535G>T |
p.V179L |
Chr.12:
45817786-45817786
on Build GRCh38
|
4747142 |
c.527_546del20 |
p.N178fs*2 |
Chr.12:
45817778-45817797
on Build GRCh38
|
6253087 |
c.486G>T |
p.V162V |
Chr.12:
45817737-45817737
on Build GRCh38
|
693911 |
c.493C>T |
p.L165L |
Chr.12:
45817744-45817744
on Build GRCh38
|
4663265 |
c.479A>G |
p.K160R |
Chr.12:
45817730-45817730
on Build GRCh38
|
4633663 |
c.478A>G |
p.K160E |
Chr.12:
45817729-45817729
on Build GRCh38
|