| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2445315C>A | CA006724 | KCNQ1 | c.24-68C>A (n.24-68C>A) c.217C>A (p.Pro73Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445315C>T | CA379116766 | KCNQ1 | c.24-68C>T (n.24-68C>T) c.217C>T (p.Pro73Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445315C= | CA1948160947 | KCNQ1 | c.24-68C= (n.24-68C=) c.217C= (p.Pro73=) | dbSNP |