| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38555664G>A | CA018413 | SCN5A | c.4531C>T (p.Arg1511Trp) c.4534C>T (p.Arg1512Trp) c.4480C>T (p.Arg1494Trp) c.4372C>T (p.Arg1458Trp) c.4405C>T (p.Arg1469Trp) c.4477C>T (p.Arg1493Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38555664G= | CA1358562782 | SCN5A | c.4531C= (p.Arg1511=) c.4534C= (p.Arg1512=) c.4480C= (p.Arg1494=) c.4372C= (p.Arg1458=) c.4405C= (p.Arg1469=) c.4477C= (p.Arg1493=) | dbSNP |
| 3 | g.38555664G>C | CA352144195 | SCN5A | c.4531C>G (p.Arg1511Gly) c.4534C>G (p.Arg1512Gly) c.4480C>G (p.Arg1494Gly) c.4372C>G (p.Arg1458Gly) c.4405C>G (p.Arg1469Gly) c.4477C>G (p.Arg1493Gly) | dbSNP |