Papers
RefSeq ID
Protein change
DNA change
1–12 of 97 variants
NM_003043.6
p.G399V
c.1196G>T
NM_003043.6
p.A78E
c.233C>A
NM_003043.6
p.F58I
c.172T>A
NM_003043.6
p.G62A
c.185G>C
NM_003043.6
p.K115*
c.343A>T
NM_003043.6
p.Y138F
c.413A>T
NM_003043.6
p.E200Splc
c.599+370A>G
NM_003043.6
p.T249I
c.746C>T
NM_003043.6
p.S301A
c.901T>G
NM_003043.6
p.L306V
c.916C>G
NM_003043.6
p.L306Q
c.917T>A
NM_003043.6
p.A343T
c.1027G>A