Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_004158.5
p.R91C
c.271C>T
NM_004158.5
p.R102C
c.304C>T
NM_004158.5
p.R111W
c.331C>T
NM_004158.5
p.M1V
c.1A>G
NM_004158.5
p.A2insFs
c.4_5insGG
NM_004158.5
p.V3insFs
c.7_8insGG
NM_004158.5
p.S15F
c.44C>T
NM_004158.5
p.S15S
c.45C>A
NM_004158.5
p.L18L
c.52C>T
NM_004158.5
p.D25N
c.73G>A
NM_004158.5
p.R27S
c.79C>A
NM_004158.5
p.P30delFs
c.88delG