Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_006296.7
p.I167V
c.499A>G
NM_006296.7
p.I35T
c.104T>C
NM_006296.7
p.T49A
c.145A>G
NM_006296.7
p.T109I
c.326C>T
NM_006296.7
p.G113E
c.338G>A
NM_006296.7
p.M1K
c.2T>A
NM_006296.7
p.D23E
c.69T>A
NM_006296.7
p.I43V
c.127A>G
NM_006296.7
p.Y44H
c.130T>C
NM_006296.7
p.A46V
c.137C>T
NM_006296.7
p.A46Splc
c.136+13C>G
NM_006296.7
p.A46Splc
c.136+107A>G