| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.51347006C>T | CA126841 | ETFB | c.491G>A (p.Arg164Gln) c.764G>A (p.Arg255Gln) n.1525G>A c.332G>A (p.Arg111Gln) c.380G>A (p.Arg127Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.51347006C>G | CA407081147 | ETFB | c.491G>C (p.Arg164Pro) c.764G>C (p.Arg255Pro) n.1525G>C c.332G>C (p.Arg111Pro) c.380G>C (p.Arg127Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.51347006C= | CA2341342846 | ETFB | c.491G= (p.Arg164=) c.764G= (p.Arg255=) n.1525G= c.332G= (p.Arg111=) c.380G= (p.Arg127=) | dbSNP |