Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_006241.8
p.E173Q
c.517G>C
NM_006241.8
p.L40L
c.118C>T
NM_006241.8
p.T73P
c.217A>C
NM_006241.8
p.G80R
c.238G>C
NM_006241.8
p.G80R
c.238G>A
NM_006241.8
p.S87R
c.259A>C
NM_006241.8
p.S87R
c.261T>G
NM_006241.8
p.S87R
c.261T>A
NM_006241.8
p.T92I
c.275C>T
NM_006241.8
p.P97R
c.290C>G
NM_006241.8
p.E135Splc
c.403+3A>T
NM_006241.8
p.K137E
c.409A>G