Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
NM_002653.5
p.E130K
c.388G>A
NM_002653.5
p.G299A
c.896G>C
NM_002653.5
p.S255_P267delFs
c.765_799del35
NM_002653.5
p.E44G
c.131A>G
NM_002653.5
p.A256fs
c.766_767fs
NM_002653.5
p.G265C
c.793G>T
NM_002653.5
p.P24L
c.71C>T
NM_002653.5
p.E57*
c.169G>T
NM_002653.5
p.K138Q
c.412A>C
NM_002653.5
p.R140Q
c.419G>A
NM_002653.5
p.C156insFs
c.467_468insT
NM_002653.5
p.Y160C
c.479A>G