| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770085T>C | CA242462229 | GNPTAB | c.1220A>G (p.Asp407Gly) c.1139A>G (p.Asp380Gly) c.1004A>G (p.Asp335Gly) c.-8A>G (n.-8A>G) | ClinVar dbSNP |
| 12 | g.101770085T>G | CA340006 | GNPTAB | c.1220A>C (p.Asp407Ala) c.1139A>C (p.Asp380Ala) c.1004A>C (p.Asp335Ala) c.-8A>C (n.-8A>C) | ClinVar dbSNP |
| 12 | g.101770085T= | CA2058957861 | GNPTAB | c.1220A= (p.Asp407=) c.1139A= (p.Asp380=) c.1004A= (p.Asp335=) c.-8A= (n.-8A=) | dbSNP |