| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577499G>A | CA338882172 | ALPL | c.1426G>A (p.Glu476Lys) n.695G>A c.501G>A c.1195G>A (p.Glu399Lys) c.1261G>A (p.Glu421Lys) c.1270G>A (p.Glu424Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.21577499G>C | CA338882173 | ALPL | c.1426G>C (p.Glu476Gln) n.695G>C c.501G>C c.1195G>C (p.Glu399Gln) c.1261G>C (p.Glu421Gln) c.1270G>C (p.Glu424Gln) | ClinVar dbSNP COSMIC |
| 1 | g.21577499G>T | CA16040723 | ALPL | c.1426G>T (p.Glu476Ter) n.695G>T c.501G>T c.1195G>T (p.Glu399Ter) c.1261G>T (p.Glu421Ter) c.1270G>T (p.Glu424Ter) | ClinVar dbSNP |