| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24503362C>T | CA151744 | ALDH5A1 | c.538C>T (p.His180Tyr) c.301C>T (p.His101Tyr) c.456C>T c.459C>T n.1298C>T c.454C>T (p.His152Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24503362C>G | CA362969598 | ALDH5A1 | c.538C>G (p.His180Asp) c.301C>G (p.His101Asp) c.456C>G c.459C>G n.1298C>G c.454C>G (p.His152Asp) | dbSNP |
| 6 | g.24503362C>A | CA362969597 | ALDH5A1 | c.538C>A (p.His180Asn) c.301C>A (p.His101Asn) c.456C>A c.459C>A n.1298C>A c.454C>A (p.His152Asn) | dbSNP |
| 6 | g.24503362C= | CA1616510378 | ALDH5A1 | c.538C= (p.His180=) c.301C= (p.His101=) c.456C= c.459C= n.1298C= c.454C= (p.His152=) | dbSNP |