| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570707G>T | CA007449 | KCNQ1 | c.296G>T (p.Gly99Val) c.478-12728G>T (n.478-12728G>T) c.557G>T (p.Gly186Val) c.176G>T (p.Gly59Val) c.124-12728G>T (n.124-12728G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570707G>C | CA379129939 | KCNQ1 | c.296G>C (p.Gly99Ala) c.478-12728G>C (n.478-12728G>C) c.557G>C (p.Gly186Ala) c.176G>C (p.Gly59Ala) c.124-12728G>C (n.124-12728G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570707G>A | CA10575751 | KCNQ1 | c.296G>A (p.Gly99Asp) c.478-12728G>A (n.478-12728G>A) c.557G>A (p.Gly186Asp) c.176G>A (p.Gly59Asp) c.124-12728G>A (n.124-12728G>A) | ClinVar dbSNP |