Papers
RefSeq ID
Protein change
DNA change
1–12 of 118 variants
NM_001907.3
p.P80insFs
c.238_239insG
NM_001907.3
p.A23S
c.67G>T
NM_001907.3
p.A23P
c.67G>C
NM_001907.3
p.I24F
c.70A>T
NM_001907.3
p.K25*
c.73A>T
NM_001907.3
p.Q48R
c.143A>G
NM_001907.3
p.A73T
c.217G>A
NM_001907.3
p.R106W
c.316C>T
NM_001907.3
p.A131insFs
c.391_392ins4
NM_001907.3
p.T135I
c.404C>T
NM_001907.3
p.S144A
c.430T>G
NM_001907.3
p.H173R
c.518A>G