| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21394976G>A | CA388884010 | CHD8 | c.4489C>T (p.Arg1497Ter) c.3026C>T c.*711C>T (n.*711C>T) c.5326C>T (p.Arg1776Ter) n.4482C>T c.5332C>T (p.Arg1778Ter) n.39C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.21394976G= | CA2122486798 | CHD8 | c.4489C= (p.Arg1497=) c.3026C= c.*711C= (n.*711C=) c.5326C= (p.Arg1776=) n.4482C= c.5332C= (p.Arg1778=) n.39C= | dbSNP |