Papers
RefSeq ID
Protein change
DNA change
1–12 of 650 variants
NM_000777.5
p.T398N
c.1193C>A
NM_000777.5
p.G73Splc
c.219-237A>G
NM_000777.5
p.D2D
c.6C>T
NM_000777.5
p.Q200R
c.599A>G
NM_000777.5
p.K208K
c.624G>A
NM_000777.5
p.R28C
c.82C>T
NM_000777.5
p.P345insFs
c.1035dupT
NM_000777.5
p.T11insFs
c.32_33insT
NM_000777.5
p.L293P
c.878T>C
NM_000777.5
p.G31insFs
c.92_93insG
NM_000777.5
p.I118V
c.352A>G
NM_000777.5
p.L249*
c.746T>A