3855543 |
c.814G>A |
p.E272K |
Chr.5:
53485089-53485089
on Build GRCh38
|
1068695 |
c.836C>T |
p.S279L |
Chr.5:
53485111-53485111
on Build GRCh38
|
5895761 |
c.880G>A |
p.E294K |
Chr.5:
53485155-53485155
on Build GRCh38
|
5926509 |
c.803C>T |
p.S268F |
Chr.5:
53485078-53485078
on Build GRCh38
|
5926508 |
c.803C>T |
p.S268F |
Chr.5:
53485078-53485078
on Build GRCh38
|
4347999 |
c.798G>T |
p.R266R |
Chr.5:
53485073-53485073
on Build GRCh38
|
3855542 |
c.814G>A |
p.E272K |
Chr.5:
53485089-53485089
on Build GRCh38
|
1068696 |
c.871T>C |
p.Y291H |
Chr.5:
53485146-53485146
on Build GRCh38
|
6319601 |
c.765A>G |
p.K255K |
Chr.5:
53485040-53485040
on Build GRCh38
|
1486813 |
c.922_923insT |
p.E309fs*22 |
Chr.5:
53485197-53485198
on Build GRCh38
|
4685771 |
c.759_760insA |
p.C256fs*16 |
Chr.5:
53485034-53485035
on Build GRCh38
|
1311201 |
c.838G>C |
p.D280H |
Chr.5:
53485113-53485113
on Build GRCh38
|
6319602 |
c.765A>G |
p.K255K |
Chr.5:
53485040-53485040
on Build GRCh38
|
4808754 |
c.952+8C>T |
p.? |
Chr.5:
53485235-53485235
on Build GRCh38
|
1729428 |
c.771A>T |
p.L257F |
Chr.5:
53485046-53485046
on Build GRCh38
|
4685770 |
c.759_760insA |
p.C256fs*16 |
Chr.5:
53485034-53485035
on Build GRCh38
|
1730757 |
c.914G>A |
p.G305D |
Chr.5:
53485189-53485189
on Build GRCh38
|
1695774 |
c.775G>A |
p.D259N |
Chr.5:
53485050-53485050
on Build GRCh38
|
4808753 |
c.952+8C>T |
p.? |
Chr.5:
53485235-53485235
on Build GRCh38
|
5229038 |
c.922_923insT |
p.E309fs*>10 |
Chr.5:
53485197-53485198
on Build GRCh38
|
5709721 |
c.749G>A |
p.C250Y |
Chr.5:
53485024-53485024
on Build GRCh38
|
5709720 |
c.749G>A |
p.C250Y |
Chr.5:
53485024-53485024
on Build GRCh38
|
7091210 |
c.838G>C |
p.D280H |
Chr.5:
53485113-53485113
on Build GRCh38
|
7090458 |
c.837G>T |
p.S279S |
Chr.5:
53485112-53485112
on Build GRCh38
|
360036 |
c.754G>T |
p.G252C |
Chr.5:
53485029-53485029
on Build GRCh38
|
7090459 |
c.837G>T |
p.S279S |
Chr.5:
53485112-53485112
on Build GRCh38
|
5895760 |
c.880G>A |
p.E294K |
Chr.5:
53485155-53485155
on Build GRCh38
|
7310210 |
c.914G>A |
p.G305D |
Chr.5:
53485189-53485189
on Build GRCh38
|
738551 |
c.798G>T |
p.R266R |
Chr.5:
53485073-53485073
on Build GRCh38
|
5761646 |
c.930A>G |
p.V310V |
Chr.5:
53485205-53485205
on Build GRCh38
|
5761645 |
c.930A>G |
p.V310V |
Chr.5:
53485205-53485205
on Build GRCh38
|
5802788 |
c.767G>A |
p.C256Y |
Chr.5:
53485042-53485042
on Build GRCh38
|
5802789 |
c.767G>A |
p.C256Y |
Chr.5:
53485042-53485042
on Build GRCh38
|