| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41869724C>T | CA16616275 | RPS19 | c.382C>T (p.Gln128Ter) c.160C>T (p.Gln54Ter) c.395C>T (p.Thr132Ile) | ClinVar dbSNP |
| 19 | g.41869724C= | CA2336669227 | RPS19 | c.382C= (p.Gln128=) c.160C= (p.Gln54=) c.395C= (p.Thr132=) | dbSNP |