| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21568242T>A | CA338879491 | ALPL | c.787T>A (p.Tyr263Asn) c.556T>A (p.Tyr186Asn) c.622T>A (p.Tyr208Asn) c.631T>A (p.Tyr211Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568242T>C | CA203411 | ALPL | c.787T>C (p.Tyr263His) c.556T>C (p.Tyr186His) c.622T>C (p.Tyr208His) c.631T>C (p.Tyr211His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568242T>G | CA338879492 | ALPL | c.787T>G (p.Tyr263Asp) c.556T>G (p.Tyr186Asp) c.622T>G (p.Tyr208Asp) c.631T>G (p.Tyr211Asp) | dbSNP |