Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_000870.7
p.Q227*
c.679C>T
NM_000870.7
p.R231W
c.691C>T
NM_000870.7
p.M1V
c.1A>G
NM_000870.7
p.V8M
c.22G>A
NM_000870.7
p.S9delFs
c.27delA
NM_000870.7
p.T24M
c.71C>T
NM_000870.7
p.S27L
c.80C>T
NM_000870.7
p.L31L
c.93G>A
NM_000870.7
p.I34I
c.102C>T
NM_000870.7
p.V42M
c.124G>A
NM_000870.7
p.R51Splc
c.153-64T>G
NM_000870.7
p.R51Splc
c.153-1G>A