Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_152719.3
p.C71*
c.213C>A
NM_152719.3
p.T24T
c.72A>T
NM_152719.3
p.A72T
c.214G>A
NM_152719.3
p.P119T
c.355C>A
NM_152719.3
p.R120W
c.358C>T
NM_152719.3
p.T24I
c.71C>T
NM_152719.3
p.D36H
c.106G>C
NM_152719.3
p.D36G
c.107A>G
NM_152719.3
p.S41N
c.122G>A
NM_152719.3
p.P45Q
c.134C>A
NM_152719.3
p.V48A
c.143T>C
NM_152719.3
p.Q52_R53Splc
c.157-8T>C