Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_006431.3
p.T400P
c.1198A>C
NM_006431.3
p.L394H
c.1181T>A
NM_006431.3
p.R516H
c.1547G>A
NM_006431.3
p.L205V
c.613C>G
NM_006431.3
p.M1T
c.2T>C
NM_006431.3
p.M1_A2insFs
c.3_4insT
NM_006431.3
p.L26_T27Splc
c.79-2A>G
NM_006431.3
p.S54N
c.161G>A
NM_006431.3
p.G67A
c.200G>C
NM_006431.3
p.K72T
c.215A>C
NM_006431.3
p.D86Splc
c.257-3T>G
NM_006431.3
p.R89G
c.265A>G