Papers
RefSeq ID
Protein change
DNA change
1–12 of 807 variants
NM_000488.4
p.L131F
c.391C>T
NM_000488.4
p.A416S
c.1246G>T
NM_000488.4
p.P73L
c.218C>T
NM_000488.4
p.R79C
c.235C>T
NM_000488.4
p.V30E
c.89T>A
NM_000488.4
p.R79H
c.236G>A
NM_000488.4
p.T226I
c.677C>T
NM_000488.4
p.S426L
c.1277C>T
NM_000488.4
p.G385Splc
c.1154-14G>A
NM_000488.4
p.R425H
c.1274G>A
NM_000488.4
p.P439T
c.1315C>A
NM_000488.4
p.T147A
c.439A>G