2192270 |
c.62_63delTT |
p.L21fs*2 |
Chr.1:
50970430-50970431
on Build GRCh38
|
2192272 |
c.109T>A |
p.F37I |
Chr.1:
50970477-50970477
on Build GRCh38
|
4619045 |
c.103A>G |
p.N35D |
Chr.1:
50970471-50970471
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
|
464723 |
c.116G>C |
p.R39T |
Chr.1:
50970484-50970484
on Build GRCh38
|
7340635 |
c.123_127delGCTGC |
p.L42fs*16 |
Chr.1:
50970491-50970495
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
|
4589937 |
c.62T>G |
p.L21R |
Chr.1:
50970430-50970430
on Build GRCh38
|
1343267 |
c.129G>T |
p.Q43H |
Chr.1:
50970497-50970497
on Build GRCh38
|
4962871 |
c.106G>T |
p.G36* |
Chr.1:
50970474-50970474
on Build GRCh38
|
6625733 |
c.116G>A |
p.R39K |
Chr.1:
50970484-50970484
on Build GRCh38
|
6987276 |
c.104A>C |
p.N35T |
Chr.1:
50970472-50970472
on Build GRCh38
|
6950057 |
c.77A>G |
p.Q26R |
Chr.1:
50970445-50970445
on Build GRCh38
|
910512 |
c.122C>T |
p.A41V |
Chr.1:
50970490-50970490
on Build GRCh38
|
6959145 |
c.61C>T |
p.L21F |
Chr.1:
50970429-50970429
on Build GRCh38
|
70130 |
c.122C>G |
p.A41G |
Chr.1:
50970490-50970490
on Build GRCh38
|
6930624 |
c.129+1G>A |
p.? |
Chr.1:
50970498-50970498
on Build GRCh38
|