| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54236907dup | CA16041376 | PCDH15 | c.916dup (p.Thr306AsnfsTer8) c.901dup (p.Thr301AsnfsTer8) c.790dup (p.Thr264AsnfsTer8) c.835dup (p.Thr279AsnfsTer8) c.-90-41018dup (n.-90-41018dup) c.876+80364dup (n.876+80364dup) c.-24-379644dup (n.-24-379644dup) n.1914dup | ClinVar dbSNP |
| 10 | g.54236907T= | CA3174440539 | PCDH15 | c.916A= (p.Thr306=) c.901A= (p.Thr301=) c.790A= (p.Thr264=) c.835A= (p.Thr279=) c.-90-41018A= (n.-90-41018A=) c.876+80364A= (n.876+80364A=) c.-24-379644A= (n.-24-379644A=) n.1914A= | dbSNP |