| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60854479C>G | CA371295116 | CHD7 | c.6775+979C>G (n.6775+979C>G) c.6892C>G (p.Gln2298Glu) c.1717-7750C>G (n.1717-7750C>G) c.6982C>G (p.Gln2328Glu) c.6979C>G (p.Gln2327Glu) c.4969C>G (p.Gln1657Glu) c.4519C>G (p.Gln1507Glu) c.3727C>G (p.Gln1243Glu) c.6889C>G (p.Gln2297Glu) | ClinVar dbSNP |
| 8 | g.60854479C>T | CA16043434 | CHD7 | c.6775+979C>T (n.6775+979C>T) c.6892C>T (p.Gln2298Ter) c.1717-7750C>T (n.1717-7750C>T) c.6982C>T (p.Gln2328Ter) c.6979C>T (p.Gln2327Ter) c.4969C>T (p.Gln1657Ter) c.4519C>T (p.Gln1507Ter) c.3727C>T (p.Gln1243Ter) c.6889C>T (p.Gln2297Ter) | ClinVar dbSNP |