Papers
RefSeq ID
Protein change
DNA change
1–12 of 366 variants
NM_001128178.3
p.M1insFs
c.2dupT
NM_001128178.3
p.K185_P186insFs
c.555_556insA
NM_001128178.3
p.R5L
c.14G>T
NM_000272.5
p.G343R
c.1027G>A
NM_000272.5
p.G343R
c.1027G>C
NM_000272.5
p.G343R
c.1027G>A
NM_001128178.3
p.R48K
c.143G>A
NM_001128178.3
p.R48K
c.143G>A
NM_001128178.3
p.Y78H
c.232T>C
NM_001128178.3
p.P186fs
c.556_557fs
NM_001128178.3
p.K185delFs
c.555delT
NM_001128178.3
p.V677L
c.2029G>C