Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_014575.4
p.V219M
c.655G>A
NM_014575.4
p.E2*
c.4G>T
NM_014575.4
p.T10M
c.29C>T
NM_014575.4
p.P64insFs
c.192dupG
NM_014575.4
p.P80S
c.238C>T
NM_014575.4
p.Q85L
c.254A>T
NM_014575.4
p.E99*
c.295G>T
NM_014575.4
p.R137G
c.409A>G
NM_014575.4
p.P187L
c.560C>T
NM_014575.4
p.L204F
c.610C>T
NM_014575.4
p.P206P
c.618C>G
NM_001197109.2
p.R209*
c.625C>T