5346770 |
c.596T>C |
p.I199T |
Chr.12:
45817847-45817847
on Build GRCh38
|
5346433 |
c.597C>T |
p.I199I |
Chr.12:
45817848-45817848
on Build GRCh38
|
6845281 |
c.585_586insA |
p.D196Rfs*3 |
Chr.12:
45817836-45817837
on Build GRCh38
|
7184756 |
c.623G>T |
p.G208V |
Chr.12:
45817874-45817874
on Build GRCh38
|
5346771 |
c.604T>C |
p.L202L |
Chr.12:
45817855-45817855
on Build GRCh38
|
7325431 |
c.568G>A |
p.V190I |
Chr.12:
45817819-45817819
on Build GRCh38
|
6944770 |
c.595_604del10 |
p.I199fs*13 |
Chr.12:
45817846-45817855
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
|
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
|
459508 |
c.595A>G |
p.I199V |
Chr.12:
45817846-45817846
on Build GRCh38
|
4041982 |
c.620C>T |
p.A207V |
Chr.12:
45817871-45817871
on Build GRCh38
|
4041981 |
c.535G>A |
p.V179I |
Chr.12:
45817786-45817786
on Build GRCh38
|
5346192 |
c.598A>C |
p.I200L |
Chr.12:
45817849-45817849
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
|
5346260 |
c.593A>T |
p.K198I |
Chr.12:
45817844-45817844
on Build GRCh38
|
5346193 |
c.601A>C |
p.T201P |
Chr.12:
45817852-45817852
on Build GRCh38
|
6938712 |
c.592A>T |
p.K198* |
Chr.12:
45817843-45817843
on Build GRCh38
|
5346292 |
c.602C>A |
p.T201N |
Chr.12:
45817853-45817853
on Build GRCh38
|
3416862 |
c.587A>C |
p.D196A |
Chr.12:
45817838-45817838
on Build GRCh38
|
5346261 |
c.594A>T |
p.K198N |
Chr.12:
45817845-45817845
on Build GRCh38
|
6938554 |
c.581delA |
p.D196fs*19 |
Chr.12:
45817832-45817832
on Build GRCh38
|
6971242 |
c.592delA |
p.I199fs*16 |
Chr.12:
45817843-45817843
on Build GRCh38
|
1705489 |
c.577C>T |
p.L193F |
Chr.12:
45817828-45817828
on Build GRCh38
|
1628602 |
c.551C>G |
p.S184* |
Chr.12:
45817802-45817802
on Build GRCh38
|
939494 |
c.586G>T |
p.D196Y |
Chr.12:
45817837-45817837
on Build GRCh38
|
4419333 |
c.597C>G |
p.I199M |
Chr.12:
45817848-45817848
on Build GRCh38
|
3376252 |
c.588T>C |
p.D196D |
Chr.12:
45817839-45817839
on Build GRCh38
|
5048545 |
c.580G>C |
p.E194Q |
Chr.12:
45817831-45817831
on Build GRCh38
|
7447833 |
c.540C>A |
p.C180* |
Chr.12:
45817791-45817791
on Build GRCh38
|
6890882 |
c.533A>C |
p.N178T |
Chr.12:
45817784-45817784
on Build GRCh38
|
6975423 |
c.502G>A |
p.G168R |
Chr.12:
45817753-45817753
on Build GRCh38
|
6986560 |
c.509C>G |
p.P170R |
Chr.12:
45817760-45817760
on Build GRCh38
|
274040 |
c.541A>G |
p.T181A |
Chr.12:
45817792-45817792
on Build GRCh38
|