| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564139G>A | CA256927 | ALPL | c.571G>A (p.Glu191Lys) n.631G>A c.340G>A (p.Glu114Lys) c.406G>A (p.Glu136Lys) c.415G>A (p.Glu139Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564139G>C | CA338878094 | ALPL | c.571G>C (p.Glu191Gln) n.631G>C c.340G>C (p.Glu114Gln) c.406G>C (p.Glu136Gln) c.415G>C (p.Glu139Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564139G>T | CA338878096 | ALPL | c.571G>T (p.Glu191Ter) n.631G>T c.340G>T (p.Glu114Ter) c.406G>T (p.Glu136Ter) c.415G>T (p.Glu139Ter) | ClinVar dbSNP |