Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_017906.3
p.V376I
c.1126G>A
NM_017906.3
p.A49T
c.145G>A
NM_017906.3
p.G83Splc
c.247+1G>A
NM_017906.3
p.G83Splc
c.248-6C>T
NM_017906.3
p.H122Y
c.364C>T
NM_017906.3
p.G124R
c.370G>A
NM_017906.3
p.G124R
c.370G>C
NM_017906.3
p.V126E
c.377T>A
NM_017906.3
p.G135V
c.404G>T
NM_017906.3
p.R148Splc
c.444-2A>C
NM_017906.3
p.K164E
c.490A>G
NM_017906.3
p.I197F
c.589A>T