| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.71811530G>C | CA393032028 | NR2E3 | c.166G>C (p.Gly56Arg) c.-99G>C (n.-99G>C) | ClinVar dbSNP |
| 15 | g.71811530G>A | CA253522 | NR2E3 | c.166G>A (p.Gly56Arg) c.-99G>A (n.-99G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.71811530G>T | CA272574818 | NR2E3 | c.166G>T (p.Gly56Trp) c.-99G>T (n.-99G>T) | dbSNP gnomAD v4 |