Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_001231.5
p.D244G
c.731A>G
NM_001231.5
p.D44N
c.130G>A
NM_001231.5
p.G103D
c.308G>A
NM_001231.5
p.I385T
c.1154T>C
NM_001231.5
p.N56Y
c.166A>T
NM_001231.5
p.M87T
c.260T>C
NM_001231.5
p.D244H
c.730G>C
NM_001231.5
p.V256M
c.766G>A
NM_001231.5
p.E89K
c.265G>A
NM_001231.5
p.E93_L94Splc
c.280-1G>C
NM_001231.5
p.Y140F
c.419A>T
NM_001231.5
p.H193Splc
c.578-5C>G