Papers
RefSeq ID
Protein change
DNA change
1–12 of 266 variants
NM_003079.5
p.Y73C
c.218A>G
NM_003079.5
p.R105Q
c.314G>A
NM_003079.5
p.Y73S
c.218A>C
NM_003079.5
p.R239*
c.715C>T
NM_003079.5
p.Y126D
c.376T>G
NM_003079.5
p.S208_E209delFs
c.624_627del4
NM_003079.5
p.G360D
c.1079G>A
NM_003079.5
p.K79_V80Splc
c.237+2T>C
NM_003079.5
p.R158*
c.472C>T
NM_003079.5
p.K123_I124Splc
c.369+1G>T
NM_003079.5
p.Y76C
c.227A>G
NM_003079.5
p.P89delFs
c.267delA