| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2445100T>C | CA006772 | KCNQ1 | c.24-283T>C (n.24-283T>C) c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445100T>A | CA379115663 | KCNQ1 | c.24-283T>A (n.24-283T>A) c.2T>A (p.Met1Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445100T= | CA1948160707 | KCNQ1 | c.24-283T= (n.24-283T=) c.2T= (p.Met1=) | dbSNP |