Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38551052T>A | CA352141504 | SCN5A | c.5317A>T (p.Asn1773Tyr) c.5320A>T (p.Asn1774Tyr) c.5266A>T (p.Asn1756Tyr) c.5158A>T (p.Asn1720Tyr) c.5221A>T (p.Asn1741Tyr) c.5191A>T (p.Asn1731Tyr) c.5263A>T (p.Asn1755Tyr) | ClinVar dbSNP |
3 | g.38551052T>C | CA019117 | SCN5A | c.5317A>G (p.Asn1773Asp) c.5320A>G (p.Asn1774Asp) c.5266A>G (p.Asn1756Asp) c.5158A>G (p.Asn1720Asp) c.5221A>G (p.Asn1741Asp) c.5191A>G (p.Asn1731Asp) c.5263A>G (p.Asn1755Asp) | ClinVar dbSNP |