| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17022657_17022660del | CA016120 | SDHB | c.545_548del (p.Ser182TyrfsTer8) c.674_677del (p.Ser225TyrfsTer8) c.716_719del (p.Ser239TyrfsTer8) n.141_144del n.380_383del n.650_653del | ClinVar dbSNP |
| 1 | g.17022659_17022660del | CA658655552 | SDHB | c.547_548del (p.Leu183IlefsTer15) c.676_677del (p.Leu226IlefsTer15) c.718_719del (p.Leu240IlefsTer15) n.143_144del n.382_383del n.652_653del | ClinVar dbSNP gnomAD v4 |