| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17028605C>A | CA015853 | SDHB | c.247G>T (p.Val83Phe) c.376G>T (p.Val126Phe) c.418G>T (p.Val140Phe) n.335G>T n.357+49G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17028605C= | CA1143537744 | SDHB | c.247G= (p.Val83=) c.376G= (p.Val126=) c.418G= (p.Val140=) n.335G= n.357+49G= | dbSNP |
| 1 | g.17028605C>T | CA338273866 | SDHB | c.247G>A (p.Val83Ile) c.376G>A (p.Val126Ile) c.418G>A (p.Val140Ile) n.335G>A n.357+49G>A | ClinVar dbSNP |
| 1 | g.17028605C>G | CA338273861 | SDHB | c.247G>C (p.Val83Leu) c.376G>C (p.Val126Leu) c.418G>C (p.Val140Leu) n.335G>C n.357+49G>C | dbSNP |