| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.71811591G>A | CA117573 | NR2E3 | c.227G>A (p.Arg76Gln) c.-38G>A (n.-38G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71811591G= | CA2186513622 | NR2E3 | c.227G= (p.Arg76=) c.-38G= (n.-38G=) | dbSNP |
| 15 | g.71811591G>C | CA393032162 | NR2E3 | c.227G>C (p.Arg76Pro) c.-38G>C (n.-38G>C) | ClinVar dbSNP gnomAD v4 |