| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577454G>A | CA666839 | ALPL | c.1381G>A (p.Val461Ile) n.650G>A c.456G>A c.1150G>A (p.Val384Ile) c.1216G>A (p.Val406Ile) c.1225G>A (p.Val409Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577454G= | CA1140538685 | ALPL | c.1381G= (p.Val461=) n.650G= c.456G= c.1150G= (p.Val384=) c.1216G= (p.Val406=) c.1225G= (p.Val409=) | dbSNP |