| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101764932G>A | CA242456834 | GNPTAB | c.1985C>T (p.Ala662Val) c.1904C>T (p.Ala635Val) c.1769C>T (p.Ala590Val) c.758C>T (p.Ala253Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764932G>C | CA343064 | GNPTAB | c.1985C>G (p.Ala662Gly) c.1904C>G (p.Ala635Gly) c.1769C>G (p.Ala590Gly) c.758C>G (p.Ala253Gly) | ClinVar dbSNP |