Papers
RefSeq ID
Protein change
DNA change
1–12 of 767 variants
NM_000194.3
p.R48H
c.143G>A
NM_000194.3
p.R51*
c.151C>T
NM_000194.3
p.R170*
c.508C>T
NM_000194.3
p.G70E
c.209G>A
NM_000194.3
p.V9_I10Splc
c.27+1G>T
NM_000194.3
p.G71insFs
c.212dupG
NM_000194.3
p.Y72C
c.215A>G
NM_000194.3
p.N203_H204Splc
c.610-1G>A
NM_000194.3
p.G71V
c.212G>T
NM_000194.3
p.F74L
c.220T>C
NM_000194.3
p.F74L
c.222C>A
NM_000194.3
p.F74L
c.222C>G