| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54369261dup | CA16041380 | PCDH15 | c.348dup (p.His117ThrfsTer21) c.333dup (p.His112ThrfsTer21) c.267dup (p.His90ThrfsTer21) c.-90-173372dup (n.-90-173372dup) c.-25+431664dup (n.-25+431664dup) n.1346dup | ClinVar dbSNP |
| 10 | g.54369261T= | CA3174440541 | PCDH15 | c.348A= (p.Ile116=) c.333A= (p.Ile111=) c.267A= (p.Ile89=) c.-90-173372A= (n.-90-173372A=) c.-25+431664A= (n.-25+431664A=) n.1346A= | dbSNP dbSNP |