| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21573676C>T | CA666668 | ALPL | c.874C>T (p.Pro292Ser) c.73-2057C>T c.643C>T (p.Pro215Ser) c.709C>T (p.Pro237Ser) c.718C>T (p.Pro240Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573676C>A | CA666669 | ALPL | c.874C>A (p.Pro292Thr) c.73-2057C>A c.643C>A (p.Pro215Thr) c.709C>A (p.Pro237Thr) c.718C>A (p.Pro240Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573676C= | CA1158018321 | ALPL | c.874C= (p.Pro292=) c.73-2057C= c.643C= (p.Pro215=) c.709C= (p.Pro237=) c.718C= (p.Pro240=) | dbSNP |