| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.71811590C>A | CA7640245 | NR2E3 | c.226C>A (p.Arg76=) c.-39C>A (n.-39C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.71811590C>T | CA117571 | NR2E3 | c.226C>T (p.Arg76Trp) c.-39C>T (n.-39C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.71811590C>G | CA393032161 | NR2E3 | c.226C>G (p.Arg76Gly) c.-39C>G (n.-39C>G) | dbSNP gnomAD v4 |
| 15 | g.71811590C= | CA2186513620 | NR2E3 | c.226C= (p.Arg76=) c.-39C= (n.-39C=) | dbSNP |