| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852964T>C | CA16618676 | CHD7 | c.6239T>C (p.Leu2080Pro) c.1717-9265T>C (n.1717-9265T>C) c.6329T>C (p.Leu2110Pro) c.4316T>C (p.Leu1439Pro) c.3866T>C (p.Leu1289Pro) c.3074T>C (p.Leu1025Pro) | ClinVar dbSNP |
| 8 | g.60852964T= | CA1788103065 | CHD7 | c.6239T= (p.Leu2080=) c.1717-9265T= (n.1717-9265T=) c.6329T= (p.Leu2110=) c.4316T= (p.Leu1439=) c.3866T= (p.Leu1289=) c.3074T= (p.Leu1025=) | dbSNP |