Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_020716.4
p.R189W
c.565C>T
NM_001387025.1
p.S33S
c.99G>A
NM_001387025.1
p.A61T
c.181G>A
NM_001387025.1
p.A66insFs
c.198dupC
NM_001387025.1
p.R110H
c.329G>A
NM_001387025.1
p.Q128*
c.382C>T
NM_001387025.1
p.W226*
c.677G>A
NM_020716.4
p.N85_V86Splc
c.256-4G>A
NM_020716.4
p.R128*
c.382C>T
NM_020716.4
p.R166L
c.497G>T
NM_020716.4
p.F182I
c.544T>A
NM_001387025.1
p.F325L
c.973T>C