| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575906C>T | CA666747 | ALPL | c.1171C>T (p.Arg391Cys) n.440C>T c.246C>T c.940C>T (p.Arg314Cys) c.1006C>T (p.Arg336Cys) c.1015C>T (p.Arg339Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575906C= | CA1143782795 | ALPL | c.1171C= (p.Arg391=) n.440C= c.246C= c.940C= (p.Arg314=) c.1006C= (p.Arg336=) c.1015C= (p.Arg339=) | dbSNP |
| 1 | g.21575906C>A | CA338881482 | ALPL | c.1171C>A (p.Arg391Ser) n.440C>A c.246C>A c.940C>A (p.Arg314Ser) c.1006C>A (p.Arg336Ser) c.1015C>A (p.Arg339Ser) | ClinVar dbSNP |