| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132129419T>C | CA240525 | KCNQ3 | c.2462A>G (p.Asn821Ser) c.2102A>G (p.Asn701Ser) c.2135A>G (p.Asn712Ser) c.*1086A>G (n.*1086A>G) c.2426A>G (p.Asn809Ser) n.3190A>G c.2099A>G (p.Asn700Ser) c.1217A>G (p.Asn406Ser) c.1754A>G (p.Asn585Ser) c.2240A>G (p.Asn747Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132129419T= | CA1820651619 | KCNQ3 | c.2462A= (p.Asn821=) c.2102A= (p.Asn701=) c.2135A= (p.Asn712=) c.*1086A= (n.*1086A=) c.2426A= (p.Asn809=) n.3190A= c.2099A= (p.Asn700=) c.1217A= (p.Asn406=) c.1754A= (p.Asn585=) c.2240A= (p.Asn747=) | dbSNP |
| 8 | g.132129419T>A | CA372215839 | KCNQ3 | c.2462A>T (p.Asn821Ile) c.2102A>T (p.Asn701Ile) c.2135A>T (p.Asn712Ile) c.*1086A>T (n.*1086A>T) c.2426A>T (p.Asn809Ile) n.3190A>T c.2099A>T (p.Asn700Ile) c.1217A>T (p.Asn406Ile) c.1754A>T (p.Asn585Ile) c.2240A>T (p.Asn747Ile) | dbSNP |