Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_017773.4
p.G319A
c.956G>C
NM_017773.4
p.L8I
c.22C>A
NM_017773.4
p.L21V
c.61C>G
NM_017773.4
p.R30Splc
c.89+20G>A
NM_017773.4
p.I35T
c.104T>C
NM_017773.4
p.L45L
c.135C>A
NM_017773.4
p.A47T
c.139G>A
NM_017773.4
p.L82L
c.246G>A
NM_017773.4
p.I95T
c.284T>C
NM_017773.4
p.W98*
c.293G>A
NM_017773.4
p.W98*
c.294G>A
NM_017773.4
p.M111I
c.333G>A