| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.55277539A>C | CA364607038 | HCRTR2 | c.922A>C (p.Ile308Leu) c.727A>C (p.Ile243Leu) | dbSNP |
| 6 | g.55277539A>T | CA3863622 | HCRTR2 | c.922A>T (p.Ile308Phe) c.727A>T (p.Ile243Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.55277539A>G | CA3863621 | HCRTR2 | c.922A>G (p.Ile308Val) c.727A>G (p.Ile243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |