| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.97853112G>A | CA368264537 | ASNS | c.1424C>T (p.Thr475Ile) c.1361C>T (p.Thr454Ile) c.1175C>T (p.Thr392Ile) c.*292C>T (n.*292C>T) n.482C>T n.3127C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.97853112G>T | CA368264539 | ASNS | c.1424C>A (p.Thr475Asn) c.1361C>A (p.Thr454Asn) c.1175C>A (p.Thr392Asn) c.*292C>A (n.*292C>A) n.482C>A n.3127C>A | ClinVar dbSNP |