Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_020755.4
p.I427T
c.1280T>C
NM_020755.4
p.S225G
c.673A>G
NM_020755.4
p.P22L
c.65C>T
NM_020755.4
p.R27L
c.80G>T
NM_020755.4
p.R27Q
c.80G>A
NM_020755.4
p.P30delFs
c.90delA
NM_020755.4
p.L47V
c.139C>G
NM_020755.4
p.G70E
c.209G>A
NM_020755.4
p.R92H
c.275G>A
NM_020755.4
p.L102H
c.305T>A
NM_020755.4
p.V151Splc
c.452-2A>T
NM_020755.4
p.M157L
c.469A>T