| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21576582A>G | CA199266 | ALPL | c.1250A>G (p.Asn417Ser) n.519A>G c.325A>G c.1019A>G (p.Asn340Ser) c.1085A>G (p.Asn362Ser) c.1094A>G (p.Asn365Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21576582A= | CA1141580649 | ALPL | c.1250A= (p.Asn417=) n.519A= c.325A= c.1019A= (p.Asn340=) c.1085A= (p.Asn362=) c.1094A= (p.Asn365=) | dbSNP |