Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21568116G>C | CA666574 | ALPL | c.661G>C (p.Gly221Arg) c.430G>C (p.Gly144Arg) c.496G>C (p.Gly166Arg) c.505G>C (p.Gly169Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568116G>T | CA338879053 | ALPL | c.661G>T (p.Gly221Cys) c.430G>T (p.Gly144Cys) c.496G>T (p.Gly166Cys) c.505G>T (p.Gly169Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |