| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41869042C>T | CA130763 | RPS19 | c.197C>T (p.Ala66Val) c.184C>T (p.Arg62Trp) c.-39C>T (n.-39C>T) c.1022C>T (n.1022C>T) c.265C>T (p.Arg89Trp) | ClinVar dbSNP |
| 19 | g.41869042C>A | CA406029867 | RPS19 | c.197C>A (p.Ala66Glu) c.184C>A (p.Arg62=) c.-39C>A (n.-39C>A) c.1022C>A (n.1022C>A) c.265C>A (p.Arg89=) | dbSNP gnomAD v4 |
| 19 | g.41869042C= | CA2336668845 | RPS19 | c.197C= (p.Ala66=) c.184C= (p.Arg62=) c.-39C= (n.-39C=) c.1022C= (n.1022C=) c.265C= (p.Arg89=) | dbSNP |