Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_001128431.4
p.E105*
c.313G>T
NM_001128431.4
p.E250_H251Splc
c.751-9C>G
NM_001128431.4
p.L33P
c.98T>C
NM_001128431.4
p.F98V
c.292T>G
NM_001128431.4
p.R128W
c.382C>T
NM_001128431.4
p.G383R
c.1147G>A
NM_001128431.4
p.G383R
c.1147G>C
NM_001128431.4
p.N469K
c.1407C>G
NM_001128431.4
p.S104I
c.311G>T
NM_001128431.4
p.N469K
c.1407C>A
NM_001128431.4
p.T477_I478del2
c.1429_1433del6
NM_015359.6
p.S160fs
c.478_479fs