| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60828682C>T | CA16618664 | CHD7 | c.3398C>T (p.Thr1133Met) c.1717-33547C>T (n.1717-33547C>T) c.1385C>T (p.Thr462Met) c.935C>T (p.Thr312Met) c.143C>T (p.Thr48Met) | ClinVar dbSNP gnomAD v2 COSMIC |
| 8 | g.60828682C= | CA1788097310 | CHD7 | c.3398C= (p.Thr1133=) c.1717-33547C= (n.1717-33547C=) c.1385C= (p.Thr462=) c.935C= (p.Thr312=) c.143C= (p.Thr48=) | dbSNP |