Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31933876C>TCA136929237C2c.440C>T (p.Ser147Phe)
c.257C>T (p.Ser86Phe)
c.626C>T (p.Ser209Phe)
c.121C>T (p.Leu41Phe)
c.221C>T (p.Ser74Phe)
n.429C>T
n.564C>T
c.230C>T (p.Ser77Phe)
c.220C>T
c.111+93C>T (n.111+93C>T)
c.443-3443C>T (n.443-3443C>T)
c.*339C>T (n.*339C>T)
c.203C>T (p.Ser68Phe)
c.539C>T (p.Ser180Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.31933876C>GCA3727457C2c.440C>G (p.Ser147Cys)
c.257C>G (p.Ser86Cys)
c.626C>G (p.Ser209Cys)
c.121C>G (p.Leu41Val)
c.221C>G (p.Ser74Cys)
n.429C>G
n.564C>G
c.230C>G (p.Ser77Cys)
c.220C>G
c.111+93C>G (n.111+93C>G)
c.443-3443C>G (n.443-3443C>G)
c.*339C>G (n.*339C>G)
c.203C>G (p.Ser68Cys)
c.539C>G (p.Ser180Cys)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched