Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_001308236.3
p.P289del1
c.865_866delTGG
NM_001308236.3
p.L97delFs
c.289delG
NM_001308236.3
p.D187del1
c.559_561delGTC
NM_001308236.3
p.P289S
c.865C>T
NM_001308236.3
p.P294R
c.881C>G
NM_001308236.3
p.P3L
c.8C>T
NM_001308236.3
p.G11delFs
c.31delC
NM_001308236.3
p.L13insFs
c.37_38ins4
NM_001308236.3
p.Y14delFs
c.41delT
NM_001308236.3
p.K19insFs
c.56_57ins13
NM_001308236.3
p.R26W
c.76C>T
NM_001308236.3
p.K27R
c.80A>G