| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21570330C>T | CA666627 | ALPL | c.818C>T (p.Thr273Met) c.28C>T c.587C>T (p.Thr196Met) c.653C>T (p.Thr218Met) c.662C>T (p.Thr221Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21570330C>G | CA338879923 | ALPL | c.818C>G (p.Thr273Arg) c.28C>G c.587C>G (p.Thr196Arg) c.653C>G (p.Thr218Arg) c.662C>G (p.Thr221Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21570330C= | CA1142237806 | ALPL | c.818C= (p.Thr273=) c.28C= c.587C= (p.Thr196=) c.653C= (p.Thr218=) c.662C= (p.Thr221=) | dbSNP |