Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_173607.5
p.L122insFs
c.366dupA
NM_173607.5
p.W123fs
c.367_368fs
NM_173607.5
p.V99_D100insFs
c.297_298insA
NM_173607.5
p.P113_T114Splc
c.339+1G>C
NM_173607.5
p.R34P
c.101G>C
NM_173607.5
p.F49F
c.147C>T
NM_173607.5
p.E59*
c.175G>T
NM_173607.5
p.I70delFs
c.209_210delTA
NM_173607.5
p.I70fs
c.208_209fs
NM_173607.5
p.G71E
c.212G>A
NM_173607.5
p.K73delFs
c.218delA
NM_173607.5
p.K73fs
c.217_218fs