Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_018286.3
p.N79S
c.236A>G
NM_018286.3
p.M1delFs
c.2delA
NM_018286.3
p.T20T
c.60G>A
NM_018286.3
p.K26fs
c.76_77fs
NM_018286.3
p.P25delFs
c.75delG
NM_018286.3
p.E28K
c.82G>A
NM_018286.3
p.E28D
c.84A>C
NM_018286.3
p.V37I
c.109G>A
NM_018286.3
p.R55H
c.164G>A
NM_018286.3
p.T72T
c.216C>T
NM_018286.3
p.A73V
c.218C>T
NM_018286.3
p.G82G
c.246G>T