Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_001004351.5
p.Y471D
c.1411T>G
NM_001004351.5
p.R45C
c.133C>T
NM_001004351.5
p.R45H
c.134G>A
NM_001004351.5
p.T75I
c.224C>T
NM_001004351.5
p.R118fs
c.352_353fs
NM_001004351.5
p.S188fs
c.562_563fs
NM_001004351.5
p.S188insFs
c.564dupC
NM_001004351.5
p.E219Q
c.655G>C
NM_001004351.5
p.S240L
c.719C>T
NM_001004351.5
p.E248K
c.742G>A
NM_001004351.5
p.P289T
c.865C>A
NM_001004351.5
p.S334fs
c.1000_1001fs