Papers
RefSeq ID
Protein change
DNA change
1–12 of 251 variants
NM_000417.3
p.T106T
c.318C>T
NM_000417.3
p.Y41S
c.122A>C
NM_000417.3
p.M46I
c.138G>T
NM_000417.3
p.M46I
c.138G>C
NM_000417.3
p.M46I
c.138G>A
NM_000417.3
p.Y156F
c.467A>T
NM_000417.3
p.L63P
c.188T>C
NM_000417.3
p.F142_V143delFs
c.424_427del4
NM_000417.3
p.M1I
c.3G>A
NM_000417.3
p.E22Splc
c.65-2A>G
NM_000417.3
p.K198Q
c.592A>C
NM_000417.3
p.R206H
c.617G>A