| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88141287C>A | CA227962 | CEP290 | c.21G>T (p.Trp7Cys) n.248G>T n.365G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.88141287C= | CA2052936335 | CEP290 | c.21G= (p.Trp7=) n.248G= n.365G= | dbSNP |
| 12 | g.88141287C>G | CA385990493 | CEP290 | c.21G>C (p.Trp7Cys) n.248G>C n.365G>C | dbSNP |