Papers
RefSeq ID
Protein change
DNA change
1–12 of 151 variants
NM_007030.3
p.A64T
c.190G>A
NM_007030.3
p.R30K
c.89G>A
NM_007030.3
p.K219Q
c.655A>C
NM_007030.3
p.S32A
c.94T>G
NM_007030.3
p.G39D
c.116G>A
NM_007030.3
p.C83Y
c.248G>A
NM_007030.3
p.G184_K185insFs
c.552_553ins4
NM_007030.3
p.H207P
c.620A>C
NM_007030.3
p.K219E
c.655A>G
NM_007030.3
p.M1V
c.1A>G
NM_007030.3
p.M1insFs
c.3dupG
NM_007030.3
p.P7H
c.20C>A