| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21573781T>C | CA256930 | ALPL | c.979T>C (p.Phe327Leu) c.73-1952T>C c.748T>C (p.Phe250Leu) c.814T>C (p.Phe272Leu) c.823T>C (p.Phe275Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573781T= | CA1141580645 | ALPL | c.979T= (p.Phe327=) c.73-1952T= c.748T= (p.Phe250=) c.814T= (p.Phe272=) c.823T= (p.Phe275=) | dbSNP |
| 1 | g.21573781T>G | CA338880408 | ALPL | c.979T>G (p.Phe327Val) c.73-1952T>G c.748T>G (p.Phe250Val) c.814T>G (p.Phe272Val) c.823T>G (p.Phe275Val) | dbSNP gnomAD v4 |