Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001013659.3
p.C285fs
c.853_854fs
NM_001013659.3
p.C288fs
c.862_863fs
NM_001013659.3
p.R330*
c.988C>T
NM_001013659.3
p.M1I
c.3G>A
NM_001013659.3
p.M1I
c.3G>C
NM_001013659.3
p.M1I
c.3G>T
NM_001013659.3
p.Q5_I6Splc
c.16-1G>A
NM_001013659.3
p.K11_D12insFs
c.33_34insT
NM_001013659.3
p.P74L
c.221C>T
NM_001013659.3
p.W79*
c.236G>A
NM_001013659.3
p.W79*
c.237G>A
NM_001013659.3
p.G100G
c.300C>T