| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22279622del | CA10604395 | ANO5 | c.2149del (p.Arg717GlufsTer4) c.2557del (p.Arg853GlufsTer4) c.*63del (n.*63del) n.3593del c.2554del (p.Arg852GlufsTer4) c.2599del (p.Arg867GlufsTer4) n.2934del c.2596del (p.Arg866GlufsTer4) c.2521del (p.Arg841GlufsTer4) c.2518del (p.Arg840GlufsTer4) c.2506del (p.Arg836GlufsTer4) | ClinVar dbSNP |
| 11 | g.22279622A= | CA3182875305 | ANO5 | c.2149A= (p.Arg717=) c.2557A= (p.Arg853=) c.*63A= (n.*63A=) n.3593A= c.2554A= (p.Arg852=) c.2599A= (p.Arg867=) n.2934A= c.2596A= (p.Arg866=) c.2521A= (p.Arg841=) c.2518A= (p.Arg840=) c.2506A= (p.Arg836=) | dbSNP dbSNP |