Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_001381.5
p.P105R
c.314C>G
NM_001381.5
p.K357R
c.1070A>G
NM_001381.5
p.L12delFs
c.35delT
NM_001381.5
p.A94G
c.281C>G
NM_001381.5
p.N403T
c.1208A>C
NM_001381.5
p.P9_L10insFs
c.27_28insT
NM_001381.5
p.L12insFs
c.35dupT
NM_001381.5
p.L12fs
c.34_35fs
NM_001381.5
p.L12F
c.36G>C
NM_001381.5
p.L12F
c.36G>T
NM_001381.5
p.K20_R21Splc
c.60+14T>C
NM_001381.5
p.A27fs
c.79_80fs