| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.19197545A>T | CA118365 | RFXANK | c.362A>T (p.Asp121Val) c.293A>T (p.Asp98Val) c.296A>T (p.Asp99Val) c.191A>T (p.Asp64Val) n.555A>T n.291A>T n.770A>T c.359A>T (p.Asp120Val) | ClinVar dbSNP |
| 19 | g.19197545A= | CA2326726707 | RFXANK | c.362A= (p.Asp121=) c.293A= (p.Asp98=) c.296A= (p.Asp99=) c.191A= (p.Asp64=) n.555A= n.291A= n.770A= c.359A= (p.Asp120=) | dbSNP |