2192270 |
c.62_63delTT |
p.L21fs*2 |
Chr.1:
50970430-50970431
on Build GRCh38
|
6964362 |
c.37G>T |
p.A13S |
Chr.1:
50970405-50970405
on Build GRCh38
|
5846927 |
c.16G>A |
p.G6R |
Chr.1:
50970384-50970384
on Build GRCh38
|
43099 |
c.43delA |
p.R15fs*4 |
Chr.1:
50970411-50970411
on Build GRCh38
|
5967629 |
c.76C>T |
p.Q26* |
Chr.1:
50970444-50970444
on Build GRCh38
|
4407874 |
c.64A>C |
p.T22P |
Chr.1:
50970432-50970432
on Build GRCh38
|
3737057 |
c.55G>A |
p.E19K |
Chr.1:
50970423-50970423
on Build GRCh38
|
1636658 |
c.62T>A |
p.L21H |
Chr.1:
50970430-50970430
on Build GRCh38
|
5015865 |
c.46_71del26 |
p.G16fs*4 |
Chr.1:
50970414-50970439
on Build GRCh38
|
1726055 |
c.55G>T |
p.E19* |
Chr.1:
50970423-50970423
on Build GRCh38
|
5020574 |
c.95A>G |
p.N32S |
Chr.1:
50970463-50970463
on Build GRCh38
|
2192268 |
c.43_44insG |
p.D17fs*7 |
Chr.1:
50970411-50970412
on Build GRCh38
|
4589937 |
c.62T>G |
p.L21R |
Chr.1:
50970430-50970430
on Build GRCh38
|
7447179 |
c.25T>A |
p.L9M |
Chr.1:
50970393-50970393
on Build GRCh38
|
6950057 |
c.77A>G |
p.Q26R |
Chr.1:
50970445-50970445
on Build GRCh38
|
1559300 |
c.43A>T |
p.R15W |
Chr.1:
50970411-50970411
on Build GRCh38
|
6908859 |
c.22G>T |
p.E8* |
Chr.1:
50970390-50970390
on Build GRCh38
|
1559301 |
c.43A>C |
p.R15R |
Chr.1:
50970411-50970411
on Build GRCh38
|
6959145 |
c.61C>T |
p.L21F |
Chr.1:
50970429-50970429
on Build GRCh38
|
6909454 |
c.22G>C |
p.E8Q |
Chr.1:
50970390-50970390
on Build GRCh38
|
4746048 |
c.2T>A |
p.M1K |
Chr.1:
50970370-50970370
on Build GRCh38
|
132821 |
c.3delG |
p.A2fs*17 |
Chr.1:
50970371-50970371
on Build GRCh38
|
48302 |
c.3G>A |
p.M1I |
Chr.1:
50970371-50970371
on Build GRCh38
|
6945755 |
c.46G>A |
p.G16R |
Chr.1:
50970414-50970414
on Build GRCh38
|