Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_015475.5
p.S283G
c.847A>G
NM_015475.5
p.R336*
c.1006C>T
NM_015475.5
p.G18Splc
c.53+141C>A
NM_015475.5
p.G27A
c.80G>C
NM_015475.5
p.G36V
c.107G>T
NM_015475.5
p.P40fs
c.118_119fs
NM_015475.5
p.S51F
c.152C>T
NM_015475.5
p.L77I
c.229C>A
NM_015475.5
p.L77H
c.230T>A
NM_015475.5
p.P89L
c.266C>T
NM_015475.5
p.G96V
c.287G>T
NM_015475.5
p.A134fs
c.400_401fs