| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.197694417T>C | CA90967773 | RUBCN | c.1684A>G (p.Thr562Ala) c.1642A>G (p.Thr548Ala) c.1507A>G (p.Thr503Ala) c.1526A>G c.918A>G c.442A>G c.1687A>G (p.Thr563Ala) c.1186A>G (p.Thr396Ala) c.1141A>G (p.Thr381Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.197694417T>G | CA355660530 | RUBCN | c.1684A>C (p.Thr562Pro) c.1642A>C (p.Thr548Pro) c.1507A>C (p.Thr503Pro) c.1526A>C c.918A>C c.442A>C c.1687A>C (p.Thr563Pro) c.1186A>C (p.Thr396Pro) c.1141A>C (p.Thr381Pro) | dbSNP gnomAD v4 |
| 3 | g.197694417T= | CA1432272092 | RUBCN | c.1684A= (p.Thr562=) c.1642A= (p.Thr548=) c.1507A= (p.Thr503=) c.1526A= c.918A= c.442A= c.1687A= (p.Thr563=) c.1186A= (p.Thr396=) c.1141A= (p.Thr381=) | dbSNP |