| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17028724G>A | CA015720 | SDHB | c.128C>T (p.Ser43Phe) c.257C>T (p.Ser86Phe) c.299C>T (p.Ser100Phe) n.216C>T n.287C>T | ClinVar dbSNP |
| 1 | g.17028724G>C | CA338275124 | SDHB | c.128C>G (p.Ser43Cys) c.257C>G (p.Ser86Cys) c.299C>G (p.Ser100Cys) n.216C>G n.287C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17028724G= | CA1141580615 | SDHB | c.128C= (p.Ser43=) c.257C= (p.Ser86=) c.299C= (p.Ser100=) n.216C= n.287C= | dbSNP |