| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112088975_112088977del | CA016628 | SDHD | c.278_280del (p.Tyr93del) c.*350_*352del (n.*350_*352del) c.161_163del (p.Tyr54del) n.283_285del c.169+1002_169+1004del (n.169+1002_169+1004del) c.268_270del c.109_111del n.362_364del n.313_315del | ClinVar dbSNP |
| 11 | g.112088975_112088977dup | CA070992 | SDHD | c.278_280dup (p.Tyr93_Ser94insTyr) c.*350_*352dup (n.*350_*352dup) c.161_163dup (p.Tyr54_Ser55insTyr) n.283_285dup c.169+1002_169+1004dup (n.169+1002_169+1004dup) c.268_270dup c.109_111dup n.362_364dup n.313_315dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |