| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60865457del | CA16618686 | CHD7 | n.1694del n.625del c.*1577del (n.*1577del) c.8518del (p.Thr2840LeufsTer?) c.2371del (p.Thr791LeufsTer?) n.564del c.8608del (p.Thr2870LeufsTer?) c.8605del (p.Thr2869LeufsTer?) c.8386del (p.Thr2796LeufsTer?) c.6595del (p.Thr2199LeufsTer?) c.6145del (p.Thr2049LeufsTer?) c.5353del (p.Thr1785LeufsTer?) c.8515del (p.Thr2839LeufsTer?) | ClinVar dbSNP |
| 8 | g.60865457A= | CA1788130502 | CHD7 | n.1694A= n.625A= c.*1577A= (n.*1577A=) c.8518A= (p.Thr2840=) c.2371A= (p.Thr791=) n.564A= c.8608A= (p.Thr2870=) c.8605A= (p.Thr2869=) c.8386A= (p.Thr2796=) c.6595A= (p.Thr2199=) c.6145A= (p.Thr2049=) c.5353A= (p.Thr1785=) c.8515A= (p.Thr2839=) | dbSNP dbSNP |