| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44313931T>A | CA130075 | SLC3A1 | c.1597T>A (p.Tyr533Asn) c.*1608T>A (n.*1608T>A) c.457T>A (p.Tyr153Asn) c.763T>A (p.Tyr255Asn) c.490T>A (p.Tyr164Asn) | ClinVar dbSNP |
| 2 | g.44313931T>G | CA46513509 | SLC3A1 | c.1597T>G (p.Tyr533Asp) c.*1608T>G (n.*1608T>G) c.457T>G (p.Tyr153Asp) c.763T>G (p.Tyr255Asp) c.490T>G (p.Tyr164Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.44313931T>C | CA346684962 | SLC3A1 | c.1597T>C (p.Tyr533His) c.*1608T>C (n.*1608T>C) c.457T>C (p.Tyr153His) c.763T>C (p.Tyr255His) c.490T>C (p.Tyr164His) | dbSNP |