| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770519G>A | CA223747 | GNPTAB | c.1000C>T (p.Arg334Ter) c.919C>T (p.Arg307Ter) c.784C>T (p.Arg262Ter) c.-228C>T (n.-228C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.101770519G>C | CA386303250 | GNPTAB | c.1000C>G (p.Arg334Gly) c.919C>G (p.Arg307Gly) c.784C>G (p.Arg262Gly) c.-228C>G (n.-228C>G) | dbSNP |
| 12 | g.101770519G= | CA2058958020 | GNPTAB | c.1000C= (p.Arg334=) c.919C= (p.Arg307=) c.784C= (p.Arg262=) c.-228C= (n.-228C=) | dbSNP |