| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40078637dup | CA16040727 | PPT1 | c.650dup (p.Asn217LysfsTer16) c.653dup (p.Asn218LysfsTer16) c.344dup (p.Asn115LysfsTer16) c.422dup (p.Asn141LysfsTer16) c.-5dup (n.-5dup) c.*276dup (n.*276dup) c.631dup n.890dup c.149-1720dup c.740dup (p.Asn247LysfsTer16) c.*505dup (n.*505dup) c.*82dup (n.*82dup) n.50dup c.338dup (p.Asn113LysfsTer16) c.428dup (p.Asn143LysfsTer16) | ClinVar dbSNP gnomAD v4 |
| 1 | g.40078637del | CA2580062735 | PPT1 | c.650del (p.Asn217ThrfsTer2) c.653del (p.Asn218ThrfsTer2) c.344del (p.Asn115ThrfsTer2) c.422del (p.Asn141ThrfsTer2) c.-5del (n.-5del) c.*276del (n.*276del) c.631del n.890del c.149-1720del c.740del (p.Asn247ThrfsTer2) c.*505del (n.*505del) c.*82del (n.*82del) n.50del c.338del (p.Asn113ThrfsTer2) c.428del (p.Asn143ThrfsTer2) | ClinVar dbSNP |