| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60830569T>G | CA252051 | CHD7 | c.3770T>G (p.Leu1257Arg) c.1717-31660T>G (n.1717-31660T>G) c.1757T>G (p.Leu586Arg) c.1307T>G (p.Leu436Arg) c.515T>G (p.Leu172Arg) | ClinVar dbSNP |
| 8 | g.60830569T= | CA1788101305 | CHD7 | c.3770T= (p.Leu1257=) c.1717-31660T= (n.1717-31660T=) c.1757T= (p.Leu586=) c.1307T= (p.Leu436=) c.515T= (p.Leu172=) | dbSNP |