Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_000412.5
p.P204S
c.610C>T
NM_000412.5
p.H211H
c.633C>T
NM_000412.5
p.R448C
c.1342C>T
NM_000412.5
p.N493I
c.1478A>T
NM_000412.5
p.P91S
c.271C>T
NM_000412.5
p.H340R
c.1019A>G
NM_000412.5
p.I180T
c.539T>C
NM_000412.5
p.R42Q
c.125G>A
NM_000412.5
p.G103E
c.308G>A
NM_000412.5
p.C241R
c.721T>C
NM_000412.5
p.C24*
c.72C>A
NM_000412.5
p.L37_I38insFs
c.111_112insA