| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114355936dup | CA658683792 | TBX5 | c.1158dup (p.Ser387GlnfsTer?) c.1008dup (p.Ser337GlnfsTer?) c.1206dup (p.Ser403GlnfsTer?) | ClinVar dbSNP |
| 12 | g.114355936del | CA16619435 | TBX5 | c.1158del (p.Ser387AlafsTer7) c.1008del (p.Ser337AlafsTer7) c.1206del (p.Ser403AlafsTer7) | ClinVar dbSNP gnomAD v4 COSMIC |