| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847914G>A | CA006603 | KCNQ1,KCNQ1-AS1 | c.1585G>A (p.Val529Ile) c.1942G>A (p.Val648Ile) c.1561G>A (p.Val521Ile) c.346G>A (p.Val116Ile) n.449G>A n.778-7472C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847914G>C | CA379140477 | KCNQ1,KCNQ1-AS1 | c.1585G>C (p.Val529Leu) c.1942G>C (p.Val648Leu) c.1561G>C (p.Val521Leu) c.346G>C (p.Val116Leu) n.449G>C n.778-7472C>G | ClinVar dbSNP |
| 11 | g.2847914G= | CA1948349680 | KCNQ1,KCNQ1-AS1 | c.1585G= (p.Val529=) c.1942G= (p.Val648=) c.1561G= (p.Val521=) c.346G= (p.Val116=) n.449G= n.778-7472C= | dbSNP |
| 11 | g.2847914G>T | CA379140476 | KCNQ1,KCNQ1-AS1 | c.1585G>T (p.Val529Phe) c.1942G>T (p.Val648Phe) c.1561G>T (p.Val521Phe) c.346G>T (p.Val116Phe) n.449G>T n.778-7472C>A | ClinVar dbSNP gnomAD v4 |