| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60849065G>A | CA16042644 | CHD7 | c.5315G>A (p.Trp1772Ter) c.1717-13164G>A (n.1717-13164G>A) c.5405G>A (p.Trp1802Ter) c.3392G>A (p.Trp1131Ter) c.2942G>A (p.Trp981Ter) c.2150G>A (p.Trp717Ter) | ClinVar dbSNP |
| 8 | g.60849065G= | CA1788134660 | CHD7 | c.5315G= (p.Trp1772=) c.1717-13164G= (n.1717-13164G=) c.5405G= (p.Trp1802=) c.3392G= (p.Trp1131=) c.2942G= (p.Trp981=) c.2150G= (p.Trp717=) | dbSNP |