| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.40809585G>A | CA340491 | SLC25A15,TPTE2P5 | c.824G>A (p.Arg275Gln) n.623-8861C>T n.452-8861C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.40809585G>T | CA387904696 | SLC25A15,TPTE2P5 | c.824G>T (p.Arg275Leu) n.623-8861C>A n.452-8861C>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.40809585G= | CA2086593333 | SLC25A15,TPTE2P5 | c.824G= (p.Arg275=) n.623-8861C= n.452-8861C= | dbSNP |