| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17028628T>G | CA015817 | SDHB | c.224A>C (p.His75Pro) c.353A>C (p.His118Pro) c.395A>C (p.His132Pro) n.312A>C n.357+26A>C | ClinVar dbSNP |
| 1 | g.17028628T>C | CA16609937 | SDHB | c.224A>G (p.His75Arg) c.353A>G (p.His118Arg) c.395A>G (p.His132Arg) n.312A>G n.357+26A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028628T>A | CA338274150 | SDHB | c.224A>T (p.His75Leu) c.353A>T (p.His118Leu) c.395A>T (p.His132Leu) n.312A>T n.357+26A>T | dbSNP gnomAD v4 |
| 1 | g.17028628T= | CA1140886355 | SDHB | c.224A= (p.His75=) c.353A= (p.His118=) c.395A= (p.His132=) n.312A= n.357+26A= | dbSNP |