Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_014018.3
p.K119R
c.356A>G
NM_014018.3
p.C5fs
c.13_14fs
NM_014018.3
p.A11P
c.31G>C
NM_014018.3
p.A12V
c.35C>T
NM_014018.3
p.S40C
c.119C>G
NM_014018.3
p.K43insFs
c.128_129insT
NM_014018.3
p.R58W
c.172C>T
NM_014018.3
p.K71_G72Splc
c.213+274A>G
NM_014018.3
p.G72fs
c.214_215fs
NM_014018.3
p.F80Y
c.239T>A
NM_014018.3
p.P88L
c.263C>T
NM_014018.3
p.T90I
c.269C>T