Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_018667.4
p.L138F
c.412C>T
NM_018667.4
p.D194N
c.580G>A
NM_018667.4
p.A182T
c.544G>A
NM_018667.4
p.R336C
c.1006C>T
NM_018667.4
p.V454I
c.1360G>A
NM_018667.4
p.V507I
c.1519G>A
NM_018667.4
p.H639P
c.1916A>C
NM_018667.4
p.T5M
c.14C>T
NM_018667.4
p.Y4delFs
c.11_12delGT
NM_018667.4
p.P7delFs
c.20delG
NM_018667.4
p.A15P
c.43G>C
NM_018667.4
p.S20delFs
c.59_60delGG