| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564188A>C | CA256923 | ALPL | c.620A>C (p.Gln207Pro) n.680A>C c.389A>C (p.Gln130Pro) c.455A>C (p.Gln152Pro) c.464A>C (p.Gln155Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564188A= | CA1141580640 | ALPL | c.620A= (p.Gln207=) n.680A= c.389A= (p.Gln130=) c.455A= (p.Gln152=) c.464A= (p.Gln155=) | dbSNP |
| 1 | g.21564188A>G | CA338878337 | ALPL | c.620A>G (p.Gln207Arg) n.680A>G c.389A>G (p.Gln130Arg) c.455A>G (p.Gln152Arg) c.464A>G (p.Gln155Arg) | dbSNP gnomAD v4 |