| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.51347036G>A | CA147539 | ETFB | c.461C>T (p.Thr154Met) c.734C>T (p.Thr245Met) n.1495C>T c.302C>T (p.Thr101Met) c.350C>T (p.Thr117Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.51347036G>C | CA309728491 | ETFB | c.461C>G (p.Thr154Arg) c.734C>G (p.Thr245Arg) n.1495C>G c.302C>G (p.Thr101Arg) c.350C>G (p.Thr117Arg) | dbSNP |
| 19 | g.51347036G>T | CA309728500 | ETFB | c.461C>A (p.Thr154Lys) c.734C>A (p.Thr245Lys) n.1495C>A c.302C>A (p.Thr101Lys) c.350C>A (p.Thr117Lys) | dbSNP gnomAD v4 |