| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26285546T>C | CA1560519 | HADHB | c.1364T>C (p.Val455Ala) c.995T>C (p.Val332Ala) n.2311T>C c.1319T>C (p.Val440Ala) c.1298T>C (p.Val433Ala) c.1334T>C (p.Val445Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26285546T>A | CA1560520 | HADHB | c.1364T>A (p.Val455Glu) c.995T>A (p.Val332Glu) n.2311T>A c.1319T>A (p.Val440Glu) c.1298T>A (p.Val433Glu) c.1334T>A (p.Val445Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26285546T>G | CA341344 | HADHB | c.1364T>G (p.Val455Gly) c.995T>G (p.Val332Gly) n.2311T>G c.1319T>G (p.Val440Gly) c.1298T>G (p.Val433Gly) c.1334T>G (p.Val445Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |