| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21563219G>A | CA256932 | ALPL | c.407G>A (p.Arg136His) n.467G>A c.176G>A (p.Arg59His) c.242G>A (p.Arg81His) c.251G>A (p.Arg84His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563219G>C | CA338877271 | ALPL | c.407G>C (p.Arg136Pro) n.467G>C c.176G>C (p.Arg59Pro) c.242G>C (p.Arg81Pro) c.251G>C (p.Arg84Pro) | ClinVar dbSNP |
| 1 | g.21563219G= | CA1141580635 | ALPL | c.407G= (p.Arg136=) n.467G= c.176G= (p.Arg59=) c.242G= (p.Arg81=) c.251G= (p.Arg84=) | dbSNP |