Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.210591913A>GCA288777CPS1c.1048A>G (p.Thr350Ala)
c.1030A>G (p.Thr344Ala)
c.1063A>G (p.Thr355Ala)
n.1030A>G (p.Thr344Ala)
ClinVar dbSNP ExAC gnomAD
2g.210591913A>TCA2086224CPS1c.1048A>T (p.Thr350Ser)
c.1030A>T (p.Thr344Ser)
c.1063A>T (p.Thr355Ser)
n.1030A>T (p.Thr344Ser)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched