Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31933876C>TCA136929237C2c.626C>T (p.Ser209Phe)
c.230C>T (p.Ser77Phe)
c.257C>T (p.Ser86Phe)
c.111+93C>T (p.=)
c.539C>T (p.Ser180Phe)
n.220C>T
c.121C>T (p.Leu41Phe)
c.440C>T (p.Ser147Phe)
c.443-3443C>T (p.=)
c.*339C>T (p.=)
c.203C>T (p.Ser68Phe)
dbSNP gnomAD
6g.31933876C>GCA3727457C2c.626C>G (p.Ser209Cys)
c.230C>G (p.Ser77Cys)
c.257C>G (p.Ser86Cys)
c.111+93C>G (p.=)
c.539C>G (p.Ser180Cys)
n.220C>G
c.121C>G (p.Leu41Val)
c.440C>G (p.Ser147Cys)
c.443-3443C>G (p.=)
c.*339C>G (p.=)
c.203C>G (p.Ser68Cys)
dbSNP ExAC gnomAD

Number of alleles fetched