Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_007234.5
p.A81V
c.242C>T
NM_007234.5
p.M1T
c.2T>C
NM_007234.5
p.M1V
c.1A>G
NM_007234.5
p.Y72H
c.214T>C
NM_007234.5
p.M1delFs
c.2delA
NM_007234.5
p.I61Splc
c.181+1G>A
NM_007234.5
p.E90Splc
c.268+1G>A
NM_007234.5
p.H122Y
c.364C>T
NM_007234.5
p.L161F
c.481C>T
NM_007234.5
p.T179M
c.536C>T
NM_007234.5
p.M1insFs
c.2dupT
NM_007234.5
p.I61Splc
c.182-1G>C