| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62631032G>C | CA10586209 | GANAB | c.1148C>G (p.Thr383Arg) c.857C>G (p.Thr286Arg) c.1214C>G (p.Thr405Arg) c.*880C>G (n.*880C>G) c.872C>G (p.Thr291Arg) c.806C>G (p.Thr269Arg) c.425C>G (p.Thr142Arg) | ClinVar dbSNP |
| 11 | g.62631032G= | CA1977859507 | GANAB | c.1148C= (p.Thr383=) c.857C= (p.Thr286=) c.1214C= (p.Thr405=) c.*880C= (n.*880C=) c.872C= (p.Thr291=) c.806C= (p.Thr269=) c.425C= (p.Thr142=) | dbSNP |
| 11 | g.62631032G>A | CA380993996 | GANAB | c.1148C>T (p.Thr383Ile) c.857C>T (p.Thr286Ile) c.1214C>T (p.Thr405Ile) c.*880C>T (n.*880C>T) c.872C>T (p.Thr291Ile) c.806C>T (p.Thr269Ile) c.425C>T (p.Thr142Ile) | dbSNP gnomAD v4 |