Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38613787G>A | CA019690 | SCN5A | c.659C>T (p.Thr220Ile) c.703+188C>T (n.703+188C>T) c.530C>T (p.Thr177Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613787G>C | CA352151583 | SCN5A | c.659C>G (p.Thr220Ser) c.703+188C>G (n.703+188C>G) c.530C>G (p.Thr177Ser) | dbSNP gnomAD v4 COSMIC |
3 | g.38613787G= | CA1358589374 | SCN5A | c.659C= (p.Thr220=) c.703+188C= (n.703+188C=) c.530C= (p.Thr177=) | dbSNP |