Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_006294.5
p.R102_K103delFs
c.306_309del4
NM_006294.5
p.I38L
c.112A>T
NM_006294.5
p.I38L
c.112A>C
NM_006294.5
p.L67Q
c.200T>A
NM_006294.5
p.R105fs
c.313_314fs
NM_006294.5
p.K103_R105delFs
c.309_313del5
NM_006294.5
p.M1T
c.2T>C
NM_006294.5
p.V7Splc
c.19+2T>C
NM_006294.5
p.V7Splc
c.20-4T>C
NM_006294.5
p.V7_S8Fs
c.21_22delinsCFs
NM_006294.5
p.I17N
c.50T>A
NM_006294.5
p.M33T
c.98T>C