| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577421C>G | CA19072001 | ALPL | c.1348C>G (p.Arg450Gly) n.617C>G c.423C>G c.1117C>G (p.Arg373Gly) c.1183C>G (p.Arg395Gly) c.1192C>G (p.Arg398Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21577421C>A | CA338882009 | ALPL | c.1348C>A (p.Arg450Ser) n.617C>A c.423C>A c.1117C>A (p.Arg373Ser) c.1183C>A (p.Arg395Ser) c.1192C>A (p.Arg398Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21577421C>T | CA666828 | ALPL | c.1348C>T (p.Arg450Cys) n.617C>T c.423C>T c.1117C>T (p.Arg373Cys) c.1183C>T (p.Arg395Cys) c.1192C>T (p.Arg398Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |