Papers
RefSeq ID
Protein change
DNA change
1–12 of 152 variants
NM_000146.4
p.A96T
c.286G>A
NM_000146.4
p.H153insFs
c.458dupA
NM_000146.4
p.R154insFs
c.460_461insA
NM_000146.4
p.T11T
c.33C>T
NM_000146.4
p.P158P
c.474G>A
NM_000146.4
p.T30I
c.89C>T
NM_000146.4
p.A56V
c.167C>T
NM_000146.4
p.D12E
c.36C>A
NM_000146.4
p.S10C
c.29C>G
NM_000146.4
p.T11S
c.32C>G
NM_000146.4
p.L166insFs
c.497_498dupTC
NM_000146.4
p.H148insFs
c.442dupC