| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21563158G>A | CA123348 | ALPL | c.346G>A (p.Ala116Thr) n.406G>A c.115G>A (p.Ala39Thr) c.181G>A (p.Ala61Thr) c.190G>A (p.Ala64Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21563158G>T | CA338877148 | ALPL | c.346G>T (p.Ala116Ser) n.406G>T c.115G>T (p.Ala39Ser) c.181G>T (p.Ala61Ser) c.190G>T (p.Ala64Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21563158G>C | CA338877147 | ALPL | c.346G>C (p.Ala116Pro) n.406G>C c.115G>C (p.Ala39Pro) c.181G>C (p.Ala61Pro) c.190G>C (p.Ala64Pro) | dbSNP |