Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_001039547.3
p.Y526C
c.1577A>G
NM_001039547.3
p.T6M
c.17C>T
NM_001039547.3
p.L22V
c.64C>G
NM_001039547.3
p.I69V
c.205A>G
NM_001039547.3
p.Q88E
c.262C>G
NM_001039547.3
p.K106Splc
c.318-5T>C
NM_001039547.3
p.K107K
c.321A>G
NM_001039547.3
p.G109E
c.326G>A
NM_001039547.3
p.E125delFs
c.373_374delTC
NM_001039547.3
p.R144R
c.430C>A
NM_001039547.3
p.R154Q
c.461G>A
NM_001039547.3
p.N178K
c.534C>G