| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21402055C>G | CA16607584 | CHD8 | c.3127G>C (p.Gly1043Arg) c.1640G>C c.166G>C (p.Gly56Arg) c.3964G>C (p.Gly1322Arg) n.2478G>C c.3970G>C (p.Gly1324Arg) n.75G>C n.426G>C | ClinVar dbSNP |
| 14 | g.21402055C= | CA2122496588 | CHD8 | c.3127G= (p.Gly1043=) c.1640G= c.166G= (p.Gly56=) c.3964G= (p.Gly1322=) n.2478G= c.3970G= (p.Gly1324=) n.75G= n.426G= | dbSNP |