| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2776007G>A | CA006032 | KCNQ1 | c.1281G>A (p.Ser427=) c.1098G>A (p.Ser366=) c.1638G>A (p.Ser546=) c.1257G>A (p.Ser419=) c.744G>A (p.Ser248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2776007G= | CA1948314045 | KCNQ1 | c.1281G= (p.Ser427=) c.1098G= (p.Ser366=) c.1638G= (p.Ser546=) c.1257G= (p.Ser419=) c.744G= (p.Ser248=) | dbSNP |
| 11 | g.2776007G>T | CA472464561 | KCNQ1 | c.1281G>T (p.Ser427=) c.1098G>T (p.Ser366=) c.1638G>T (p.Ser546=) c.1257G>T (p.Ser419=) c.744G>T (p.Ser248=) | ClinVar dbSNP gnomAD v4 |