| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21573779G>T | CA666694 | ALPL | c.977G>T (p.Gly326Val) c.73-1954G>T c.746G>T (p.Gly249Val) c.812G>T (p.Gly271Val) c.821G>T (p.Gly274Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.21573779G= | CA1148264970 | ALPL | c.977G= (p.Gly326=) c.73-1954G= c.746G= (p.Gly249=) c.812G= (p.Gly271=) c.821G= (p.Gly274=) | dbSNP |