| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852900G>T | CA16605250 | CHD7 | c.6175G>T (p.Glu2059Ter) c.1717-9329G>T (n.1717-9329G>T) c.6265G>T (p.Glu2089Ter) c.4252G>T (p.Glu1418Ter) c.3802G>T (p.Glu1268Ter) c.3010G>T (p.Glu1004Ter) | ClinVar dbSNP |
| 8 | g.60852900G= | CA1788102676 | CHD7 | c.6175G= (p.Glu2059=) c.1717-9329G= (n.1717-9329G=) c.6265G= (p.Glu2089=) c.4252G= (p.Glu1418=) c.3802G= (p.Glu1268=) c.3010G= (p.Glu1004=) | dbSNP |