| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884753_13884760delinsACATGTAG | CA2285919254 | MC2R | c.759_766delinsCTACATGT (p.Cys253=) | |
| 18 | g.13884754C>A | CA401994028 | MC2R | c.765G>T (p.Met255Ile) | |
| 18 | g.13884754C= | CA2285919255 | MC2R | c.765G= (p.Met255=) | |
| 18 | g.13884754C>G | CA401994030 | MC2R | c.765G>C (p.Met255Ile) | |
| 18 | g.13884754C>T | CA8902409 | MC2R | c.765G>A (p.Met255Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884756_13884762del | CA628496355 | MC2R | c.759_765del (p.Tyr254LeufsTer5) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884755A>C | CA401994031 | MC2R | c.764T>G (p.Met255Arg) | |
| 18 | g.13884755A>G | CA401994032 | MC2R | c.764T>C (p.Met255Thr) | |
| 18 | g.13884755A>T | CA401994034 | MC2R | c.764T>A (p.Met255Lys) | |
| 18 | g.13884755_13884756del | CA2641150773 | MC2R | c.763_764del (p.Met255ValfsTer17) | gnomAD v4 |
| 18 | g.13884756T>A | CA401994036 | MC2R | c.763A>T (p.Met255Leu) | |
| 18 | g.13884756T>C | CA296828597 | MC2R | c.763A>G (p.Met255Val) | dbSNP gnomAD v4 |
| 18 | g.13884756T>G | CA401994039 | MC2R | c.763A>C (p.Met255Leu) | |
| 18 | g.13884756T= | CA2285919256 | MC2R | c.763A= (p.Met255=) | |
| 18 | g.13884757G>A | CA8902410 | MC2R | c.762C>T (p.Tyr254=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884757G>C | CA401994040 | MC2R | c.762C>G (p.Tyr254Ter) | |
| 18 | g.13884757G= | CA2285919257 | MC2R | c.762C= (p.Tyr254=) | |
| 18 | g.13884757G>T | CA401994041 | MC2R | c.762C>A (p.Tyr254Ter) | |
| 18 | g.13884758T>A | CA401994045 | MC2R | c.761A>T (p.Tyr254Phe) | gnomAD v4 |
| 18 | g.13884758T>C | CA116124 | MC2R | c.761A>G (p.Tyr254Cys) | ClinVar dbSNP |
| 18 | g.13884758T>G | CA401994043 | MC2R | c.761A>C (p.Tyr254Ser) | gnomAD v4 |
| 18 | g.13884758T= | CA2285919258 | MC2R | c.761A= (p.Tyr254=) | |
| 18 | g.13884759A= | CA2285919259 | MC2R | c.760T= (p.Tyr254=) | |
| 18 | g.13884759A>C | CA401994048 | MC2R | c.760T>G (p.Tyr254Asp) | dbSNP |
| 18 | g.13884759A>G | CA401994049 | MC2R | c.760T>C (p.Tyr254His) | dbSNP |
| 18 | g.13884759A>T | CA401994051 | MC2R | c.760T>A (p.Tyr254Asn) | |
| 18 | g.13884760G>A | CA503248015 | MC2R | c.759C>T (p.Cys253=) | |
| 18 | g.13884760G>C | CA401994054 | MC2R | c.759C>G (p.Cys253Trp) | |
| 18 | g.13884760G>T | CA401994055 | MC2R | c.759C>A (p.Cys253Ter) | |
| 18 | g.13884761C>A | CA401994058 | MC2R | c.758G>T (p.Cys253Phe) | |
| 18 | g.13884761C>G | CA401994060 | MC2R | c.758G>C (p.Cys253Ser) | |
| 18 | g.13884761C>T | CA401994061 | MC2R | c.758G>A (p.Cys253Tyr) | |
| 18 | g.13884762A>C | CA401994064 | MC2R | c.757T>G (p.Cys253Gly) | |
| 18 | g.13884762A>G | CA401994066 | MC2R | c.757T>C (p.Cys253Arg) | |
| 18 | g.13884762A>T | CA401994067 | MC2R | c.757T>A (p.Cys253Ser) | |
| 18 | g.13884763G>A | CA503248020 | MC2R | c.756C>T (p.Ala252=) | |
| 18 | g.13884763G>C | CA503248022 | MC2R | c.756C>G (p.Ala252=) | |
| 18 | g.13884763G>T | CA503248023 | MC2R | c.756C>A (p.Ala252=) | |
| 18 | g.13884764G>A | CA401994074 | MC2R | c.755C>T (p.Ala252Val) | gnomAD v4 |
| 18 | g.13884764G>C | CA401994071 | MC2R | c.755C>G (p.Ala252Gly) | |
| 18 | g.13884764G>T | CA401994072 | MC2R | c.755C>A (p.Ala252Asp) | |
| 18 | g.13884765C>A | CA296828605 | MC2R | c.754G>T (p.Ala252Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884765C= | CA2285919260 | MC2R | c.754G= (p.Ala252=) | |
| 18 | g.13884765C>G | CA401994079 | MC2R | c.754G>C (p.Ala252Pro) | |
| 18 | g.13884765C>T | CA8902411 | MC2R | c.754G>A (p.Ala252Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884766G>A | CA296828608 | MC2R | c.753C>T (p.Cys251=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884766G>C | CA401994083 | MC2R | c.753C>G (p.Cys251Trp) | |
| 18 | g.13884766G= | CA2285919261 | MC2R | c.753C= (p.Cys251=) | |
| 18 | g.13884766G>T | CA401994082 | MC2R | c.753C>A (p.Cys251Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884767C>A | CA116122 | MC2R | c.752G>T (p.Cys251Phe) | ClinVar dbSNP |