7240396 |
c.496G>C |
p.D166H |
Chr.5:
68274007-68274007
on Build GRCh38
|
6746554 |
c.502G>T |
p.D168Y |
Chr.5:
68274013-68274013
on Build GRCh38
|
6921639 |
c.469A>C |
p.N157H |
Chr.5:
68273980-68273980
on Build GRCh38
|
85934 |
c.484C>T |
p.R162* |
Chr.5:
68273995-68273995
on Build GRCh38
|
5609861 |
c.440C>T |
p.S147L |
Chr.5:
68273951-68273951
on Build GRCh38
|
6928089 |
c.459_502+6del50 |
p.? |
Chr.5:
68273970-68274019
on Build GRCh38
|
6937108 |
c.462_463insTT |
p.S155fs*23 |
Chr.5:
68273973-68273974
on Build GRCh38
|
1069562 |
c.502+1_502+4delGTGA |
p.? |
Chr.5:
68274014-68274017
on Build GRCh38
|
1069561 |
c.458_459delAG |
p.S154fs*12 |
Chr.5:
68273969-68273970
on Build GRCh38
|
6980330 |
c.443C>T |
p.T148I |
Chr.5:
68273954-68273954
on Build GRCh38
|
6746542 |
c.485G>A |
p.R162Q |
Chr.5:
68273996-68273996
on Build GRCh38
|