| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.51353271A>T | CA312508 | ETFB | c.236T>A (p.Leu79Gln) c.509T>A (p.Leu170Gln) n.259T>A c.216+879T>A (n.216+879T>A) c.*162T>A (n.*162T>A) c.125T>A (p.Leu42Gln) | ClinVar dbSNP |
| 19 | g.51353271A>G | CA9610814 | ETFB | c.236T>C (p.Leu79Pro) c.509T>C (p.Leu170Pro) n.259T>C c.216+879T>C (n.216+879T>C) c.*162T>C (n.*162T>C) c.125T>C (p.Leu42Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |