| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884767C>A | CA116122 | MC2R | c.752G>T (p.Cys251Phe) | ClinVar dbSNP |
| 18 | g.13884767C>G | CA296828614 | MC2R | c.752G>C (p.Cys251Ser) | dbSNP gnomAD v4 |
| 18 | g.13884767C>T | CA296828617 | MC2R | c.752G>A (p.Cys251Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884767C= | CA2285919262 | MC2R | c.752G= (p.Cys251=) | dbSNP |