| 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) | ClinVar 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 |
| 2 | g.219421494A= | CA1329211321 | DES | n.652A= n.566A= c.1178A= (p.Asn393=) n.650A= n.573A= c.1175A= (p.Asn392=) c.746A= (p.Asn249=) c.1109A= (p.Asn370=) c.1157A= (p.Asn386=) c.908A= (p.Asn303=) | dbSNP |