Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001195305.3
p.G13Splc
c.38-6T>C
NM_001195305.3
p.L58*
c.173T>G
NM_001195305.3
p.L58*
c.173T>A
NM_001195305.3
p.A4G
c.11C>G
NM_001195305.3
p.P9fs
c.25_26fs
NM_001195305.3
p.P9delFs
c.26delG
NM_001195305.3
p.M1_G13delFs
c.1_37del37
NM_001195305.3
p.G13Splc
c.38-11T>G
NM_001195305.3
p.K14fs
c.40_41fs
NM_001195305.3
p.M23T
c.68T>C
NM_001195305.3
p.R31Q
c.92G>A
NM_001195305.3
p.G38Splc
c.112+2T>A