| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21392760G>T | CA16043684 | CHD8 | c.5681C>A (p.Ser1894Ter) c.70C>A c.4218C>A c.6518C>A (p.Ser2173Ter) n.5674C>A c.29C>A (p.Ser10Ter) | ClinVar dbSNP |
| 14 | g.21392760G>A | CA7090763 | CHD8 | c.5681C>T (p.Ser1894Leu) c.70C>T c.4218C>T c.6518C>T (p.Ser2173Leu) n.5674C>T c.29C>T (p.Ser10Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21392760G= | CA2122504954 | CHD8 | c.5681C= (p.Ser1894=) c.70C= c.4218C= c.6518C= (p.Ser2173=) n.5674C= c.29C= (p.Ser10=) | dbSNP |