| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.39391956G>C | CA114773 | SLC25A38 | c.512G>C (p.Arg171Pro) c.509G>C (p.Arg170Pro) c.506G>C (p.Arg169Pro) c.380G>C (p.Arg127Pro) c.560G>C (p.Arg187Pro) c.548G>C (p.Arg183Pro) c.542G>C (p.Arg181Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39391956G>A | CA352203585 | SLC25A38 | c.512G>A (p.Arg171Gln) c.509G>A (p.Arg170Gln) c.506G>A (p.Arg169Gln) c.380G>A (p.Arg127Gln) c.560G>A (p.Arg187Gln) c.548G>A (p.Arg183Gln) c.542G>A (p.Arg181Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |