Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_018441.6
p.E149K
c.445G>A
NM_018441.6
p.R232*
c.694C>T
NM_018441.6
p.F297L
c.889T>C
NM_018441.6
p.F297L
c.891T>G
NM_018441.6
p.F297L
c.891T>A
NM_018441.6
p.G42W
c.124G>T
NM_018441.6
p.G42Splc
c.124+392C>T
NM_018441.6
p.G42W
c.124G>T
NM_018441.6
p.N44D
c.130A>G
NM_018441.6
p.S49P
c.145T>C
NM_018441.6
p.R82W
c.244C>T
NM_018441.6
p.V159L
c.475G>C