Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_004694.5
p.E217D
c.651A>T
NM_004694.5
p.E217D
c.651A>C
NM_004694.5
p.I121T
c.362T>C
NM_004694.5
p.F204I
c.610T>A
NM_004694.5
p.P248S
c.742C>T
NM_004694.5
p.V14L
c.40G>C
NM_004694.5
p.A26A
c.78G>A
NM_004694.5
p.G40C
c.118G>T
NM_004694.5
p.F76L
c.226T>C
NM_004694.5
p.F76L
c.228T>G
NM_004694.5
p.F76L
c.228T>A
NM_004694.5
p.V94V
c.282G>C