Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372045A>G | CA8980942 | MC4R | c.305T>C (p.Ile102Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372045A>C | CA210715 | MC4R | c.305T>G (p.Ile102Ser) | ClinVar dbSNP |
18 | g.60372045A= | CA2307359260 | MC4R | c.305T= (p.Ile102=) | dbSNP |
18 | g.60372045A>T | CA402720100 | MC4R | c.305T>A (p.Ile102Asn) | dbSNP gnomAD v4 |