| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577422G>T | CA338882011 | ALPL | c.1349G>T (p.Arg450Leu) n.618G>T c.424G>T c.1118G>T (p.Arg373Leu) c.1184G>T (p.Arg395Leu) c.1193G>T (p.Arg398Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21577422G>A | CA666829 | ALPL | c.1349G>A (p.Arg450His) n.618G>A c.424G>A c.1118G>A (p.Arg373His) c.1184G>A (p.Arg395His) c.1193G>A (p.Arg398His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21577422G= | CA1142386793 | ALPL | c.1349G= (p.Arg450=) n.618G= c.424G= c.1118G= (p.Arg373=) c.1184G= (p.Arg395=) c.1193G= (p.Arg398=) | dbSNP |