| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847865del | CA006577 | KCNQ1,KCNQ1-AS1 | c.1536del (p.Arg513GlufsTer?) c.1893del (p.Arg632GlufsTer?) c.1512del (p.Arg505GlufsTer?) c.297del (p.Arg100GlufsTer?) n.400del n.778-7417del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847865dup | CA252591 | KCNQ1,KCNQ1-AS1 | c.1536dup (p.Arg513GlnfsTer20) c.1893dup (p.Arg632GlnfsTer20) c.1512dup (p.Arg505GlnfsTer20) c.297dup (p.Arg100GlnfsTer20) n.400dup n.778-7417dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |