| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.53560706G>A | CA118550 | NDUFS4 | c.44G>A (p.Trp15Ter) c.32G>A (p.Trp11Ter) n.74G>A n.68G>A | ClinVar dbSNP |
| 5 | g.53560706G= | CA1546620715 | NDUFS4 | c.44G= (p.Trp15=) c.32G= (p.Trp11=) n.74G= n.68G= | dbSNP |
| 5 | g.53560706G>T | CA359719002 | NDUFS4 | c.44G>T (p.Trp15Leu) c.32G>T (p.Trp11Leu) n.74G>T n.68G>T | dbSNP gnomAD v4 |