Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_004357.5
p.R165*
c.493C>T
NM_004357.5
p.R178H
c.533G>A
NM_004357.5
p.G193G
c.579G>A
NM_004357.5
p.K127Q
c.379A>C
NM_004357.5
p.D128insFs
c.383_384insG
NM_004357.5
p.Q136*
c.406C>T
NM_004357.5
p.K8T
c.23A>C
NM_004357.5
p.A67V
c.200C>T
NM_004357.5
p.A81T
c.241G>A
NM_004357.5
p.R87L
c.260G>T
NM_004357.5
p.Q116*
c.346C>T
NM_004357.5
p.Q117_L118Splc
c.351+2T>C