Papers
RefSeq ID
Protein change
DNA change
1–12 of 128 variants
NM_001629.4
p.L76V
c.226C>G
NM_001629.4
p.G39insFs
c.116_117ins4
NM_001629.4
p.A74V
c.221C>T
NM_001629.4
p.K116_R117ins4
c.346_350ins12
NM_001629.4
p.Y133H
c.397T>C
NM_001629.4
p.M1insFs
c.1_2ins4
NM_001629.4
p.M1I
c.3G>A
NM_001629.4
p.G7G
c.21C>T
NM_001629.4
p.G24Splc
c.70+18C>A
NM_001629.4
p.E31A
c.92A>C
NM_001629.4
p.N57Splc
c.170+12C>A
NM_001629.4
p.Q58E
c.172C>G