| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41860817G>A | CA9465261 | RPS19 | c.43G>A (p.Val15Ile) c.-180G>A (n.-180G>A) c.40G>A (p.Val14Ile) n.78G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41860817G>T | CA045535 | RPS19 | c.43G>T (p.Val15Phe) c.-180G>T (n.-180G>T) c.40G>T (p.Val14Phe) n.78G>T | ClinVar dbSNP |
| 19 | g.41860817G= | CA2336664149 | RPS19 | c.43G= (p.Val15=) c.-180G= (n.-180G=) c.40G= (p.Val14=) n.78G= | dbSNP |