Papers
RefSeq ID
Protein change
DNA change
1–12 of 193 variants
NM_173489.5
p.W191*
c.572G>A
NM_173489.5
p.W191*
c.573G>A
NM_173489.5
p.G149E
c.446G>A
NM_173489.5
p.R685Q
c.2054G>A
NM_173489.5
p.A1427Fs
c.4279delinsTGFs
NM_173489.5
p.M11V
c.31A>G
NM_173489.5
p.R146fs
c.436_437fs
NM_173489.5
p.R146_K148delFs
c.436_443del8
NM_173489.5
p.E224K
c.670G>A
NM_173489.5
p.L436_V443del8
c.1306_1328del24
NM_173489.5
p.T456N
c.1367C>A
NM_173489.5
p.V496I
c.1486G>A