Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219421494A>G | CA2125252 | DES | n.652A>G n.566A>G c.1178A>G (p.Asn393Ser) n.650A>G n.573A>G c.1175A>G (p.Asn392Ser) c.746A>G (p.Asn249Ser) c.1109A>G (p.Asn370Ser) c.1157A>G (p.Asn386Ser) c.908A>G (p.Asn303Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421494A>T | CA217030 | DES | n.652A>T n.566A>T c.1178A>T (p.Asn393Ile) n.650A>T n.573A>T c.1175A>T (p.Asn392Ile) c.746A>T (p.Asn249Ile) c.1109A>T (p.Asn370Ile) c.1157A>T (p.Asn386Ile) c.908A>T (p.Asn303Ile) | ClinVar dbSNP |