Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38580953G>A | CA016900 | SCN5A | c.3206C>T (p.Thr1069Met) c.3077C>T (p.Thr1026Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38580953G= | CA1358576121 | SCN5A | c.3206C= (p.Thr1069=) c.3077C= (p.Thr1026=) | dbSNP |
3 | g.38580953G>C | CA352139032 | SCN5A | c.3206C>G (p.Thr1069Arg) c.3077C>G (p.Thr1026Arg) | ClinVar dbSNP gnomAD v4 |