Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_022734.3
p.M1insFs
c.2dupT
NM_022734.3
p.G12_R13insFs
c.36_37insGT
NM_022734.3
p.V34fs
c.100_101fs
NM_022734.3
p.V34_T35delFs
c.101_104del4
NM_022734.3
p.M83K
c.248T>A
NM_022734.3
p.V87fs
c.259_260fs
NM_022734.3
p.S92N
c.275G>A
NM_022734.3
p.K115K
c.345A>G
NM_022734.3
p.A173S
c.517G>T
NM_022734.3
p.E176_I177Splc
c.529-21G>A
NM_022734.3
p.I177F
c.529A>T
NM_022734.3
p.R178W
c.532C>T