| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572089G>T | CA008142 | KCNQ1 | c.499G>T (p.Val167Leu) c.478-11346G>T (n.478-11346G>T) c.760G>T (p.Val254Leu) c.379G>T (p.Val127Leu) c.124-11346G>T (n.124-11346G>T) | ClinVar dbSNP |
| 11 | g.2572089G>C | CA008134 | KCNQ1 | c.499G>C (p.Val167Leu) c.478-11346G>C (n.478-11346G>C) c.760G>C (p.Val254Leu) c.379G>C (p.Val127Leu) c.124-11346G>C (n.124-11346G>C) | ClinVar dbSNP |
| 11 | g.2572089G>A | CA008122 | KCNQ1 | c.499G>A (p.Val167Met) c.478-11346G>A (n.478-11346G>A) c.760G>A (p.Val254Met) c.379G>A (p.Val127Met) c.124-11346G>A (n.124-11346G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |