| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847773C>T | CA006452 | KCNQ1,KCNQ1-AS1 | c.1444C>T (p.Gln482Ter) c.1801C>T (p.Gln601Ter) c.1420C>T (p.Gln474Ter) c.205C>T (p.Gln69Ter) n.308C>T n.778-7331G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.2847773C= | CA1948349586 | KCNQ1,KCNQ1-AS1 | c.1444C= (p.Gln482=) c.1801C= (p.Gln601=) c.1420C= (p.Gln474=) c.205C= (p.Gln69=) n.308C= n.778-7331G= | dbSNP |