| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22221107dup | CA115378 | ANO5 | c.-260dup (n.-260dup) c.149dup (p.Asn50LysfsTer15) c.*123dup (n.*123dup) n.570dup n.1185dup n.391dup n.435dup n.560dup c.146dup (p.Asn49LysfsTer15) c.191dup (p.Asn64LysfsTer15) n.756dup c.188dup (p.Asn63LysfsTer15) c.113dup (p.Asn38LysfsTer15) c.110dup (p.Asn37LysfsTer15) c.98dup (p.Asn33LysfsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.22221107del | CA2612864737 | ANO5 | c.-260del (n.-260del) c.149del (p.Asn50IlefsTer27) c.*123del (n.*123del) n.570del n.1185del n.391del n.435del n.560del c.146del (p.Asn49IlefsTer27) c.191del (p.Asn64IlefsTer27) n.756del c.188del (p.Asn63IlefsTer27) c.113del (p.Asn38IlefsTer27) c.110del (p.Asn37IlefsTer27) c.98del (p.Asn33IlefsTer27) | dbSNP gnomAD v4 |