5455072 |
c.202G>A |
p.V68I |
Chr.2:
30158679-30158679
on Build GRCh38
|
1668829 |
c.268G>T |
p.D90Y |
Chr.2:
30158745-30158745
on Build GRCh38
|
7182934 |
c.295G>A |
p.V99M |
Chr.2:
30158772-30158772
on Build GRCh38
|
721275 |
c.307C>T |
p.R103C |
Chr.2:
30158784-30158784
on Build GRCh38
|
404705 |
c.346G>A |
p.V116I |
Chr.2:
30158823-30158823
on Build GRCh38
|
3426387 |
c.319C>T |
p.R107* |
Chr.2:
30158796-30158796
on Build GRCh38
|
6824505 |
c.343C>T |
p.H115Y |
Chr.2:
30158820-30158820
on Build GRCh38
|
6300363 |
c.253G>T |
p.E85* |
Chr.2:
30158730-30158730
on Build GRCh38
|
2941576 |
c.342G>T |
p.E114D |
Chr.2:
30158819-30158819
on Build GRCh38
|
2941577 |
c.359A>G |
p.N120S |
Chr.2:
30158836-30158836
on Build GRCh38
|
6824504 |
c.249C>A |
p.I83I |
Chr.2:
30158726-30158726
on Build GRCh38
|
2941573 |
c.278G>A |
p.R93Q |
Chr.2:
30158755-30158755
on Build GRCh38
|
5994185 |
c.186C>T |
p.L62L |
Chr.2:
30158663-30158663
on Build GRCh38
|
2941575 |
c.294C>T |
p.R98R |
Chr.2:
30158771-30158771
on Build GRCh38
|
6023472 |
c.312delT |
p.L105fs*1 |
Chr.2:
30158789-30158789
on Build GRCh38
|
216584 |
c.205C>T |
p.R69* |
Chr.2:
30158682-30158682
on Build GRCh38
|
5597909 |
c.291C>T |
p.G97G |
Chr.2:
30158768-30158768
on Build GRCh38
|
248391 |
c.349C>T |
p.P117S |
Chr.2:
30158826-30158826
on Build GRCh38
|
5497616 |
c.300C>T |
p.I100I |
Chr.2:
30158777-30158777
on Build GRCh38
|