| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.10021323T>A | CA9184244 | RDH8 | c.605T>A (p.Met202Lys) c.665T>A (p.Met222Lys) c.50T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.10021323T>C | CA9184243 | RDH8 | c.605T>C (p.Met202Thr) c.665T>C (p.Met222Thr) c.50T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10021323T= | CA2322222493 | RDH8 | c.605T= (p.Met202=) c.665T= (p.Met222=) c.50T= | dbSNP |
| 19 | g.10021323T>G | CA403908284 | RDH8 | c.605T>G (p.Met202Arg) c.665T>G (p.Met222Arg) c.50T>G | dbSNP |