Papers
RefSeq ID
Protein change
DNA change
1–12 of 277 variants
NM_000591.4
p.S53S
c.159T>C
NM_000591.4
p.E58D
c.174G>C
NM_000591.4
p.T197I
c.590C>T
NM_000591.4
p.M1_E2Splc
c.4-1G>T
NM_000591.4
p.P170L
c.509C>T
NM_000591.4
p.M344T
c.1031T>C
NM_000591.4
p.A371V
c.1112C>T
NM_000591.4
p.K87R
c.260A>G
NM_000591.4
p.A286V
c.857C>T
NM_000591.4
p.W45_S46insG
c.133_137ins3
NM_000591.4
p.R72L
c.215G>T
NM_000591.4
p.L89F
c.265C>T