| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41869108A>T | CA130766 | RPS19 | c.263A>T (p.Glu88Val) c.250A>T (p.Arg84Ter) c.28A>T (p.Arg10Ter) c.1088A>T (n.1088A>T) | ClinVar dbSNP |
| 19 | g.41869108A= | CA2336668878 | RPS19 | c.263A= (p.Glu88=) c.250A= (p.Arg84=) c.28A= (p.Arg10=) c.1088A= (n.1088A=) | dbSNP |
| 19 | g.41869108A>G | CA406030272 | RPS19 | c.263A>G (p.Glu88Gly) c.250A>G (p.Arg84Gly) c.28A>G (p.Arg10Gly) c.1088A>G (n.1088A>G) | dbSNP gnomAD v4 |