Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418809A>G | CA217067 | DES | c.347A>G (p.Asn116Ser) | ClinVar dbSNP |
2 | g.219418809A>T | CA10576588 | DES | c.347A>T (p.Asn116Ile) | ClinVar dbSNP |
2 | g.219418809A= | CA1329210004 | DES | c.347A= (p.Asn116=) | dbSNP |