Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_001349884.2
p.W165*
c.494G>A
NM_001349884.2
p.W165*
c.495G>A
NM_001349884.2
p.G47delFs
c.140delC
NM_001349884.2
p.W3del1
c.7_8delCCA
NM_001349884.2
p.S44N
c.131G>A
NM_001349884.2
p.Y27H
c.79T>C
NM_001349884.2
p.G47fs
c.139_140fs
NM_001349884.2
p.R74H
c.221G>A
NM_001349884.2
p.H121L
c.362A>T
NM_001349884.2
p.L246P
c.737T>C
NM_001349884.2
p.A22del1
c.64_65delAGC
NM_001349884.2
p.S44N
c.131G>A