| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101768082C>A | CA6746648 | GNPTAB | c.1363G>T (p.Ala455Ser) n.22G>T c.1282G>T (p.Ala428Ser) c.1147G>T (p.Ala383Ser) c.136G>T (p.Ala46Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768082C= | CA2058956979 | GNPTAB | c.1363G= (p.Ala455=) n.22G= c.1282G= (p.Ala428=) c.1147G= (p.Ala383=) c.136G= (p.Ala46=) | dbSNP |