| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21568117G>T | CA666576 | ALPL | c.662G>T (p.Gly221Val) c.431G>T (p.Gly144Val) c.497G>T (p.Gly166Val) c.506G>T (p.Gly169Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568117G>C | CA666575 | ALPL | c.662G>C (p.Gly221Ala) c.431G>C (p.Gly144Ala) c.497G>C (p.Gly166Ala) c.506G>C (p.Gly169Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |