| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570715G>C | CA007488 | KCNQ1 | c.304G>C (p.Gly102Arg) c.478-12720G>C (n.478-12720G>C) c.565G>C (p.Gly189Arg) c.184G>C (p.Gly62Arg) c.124-12720G>C (n.124-12720G>C) | ClinVar dbSNP |
| 11 | g.2570715G>A | CA007480 | KCNQ1 | c.304G>A (p.Gly102Arg) c.478-12720G>A (n.478-12720G>A) c.565G>A (p.Gly189Arg) c.184G>A (p.Gly62Arg) c.124-12720G>A (n.124-12720G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |