UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884728A= | CA2285919244 | MC2R | c.791T= (p.Leu264=) | |
| 18 | g.13884728A>C | CA401993915 | MC2R | c.791T>G (p.Leu264Trp) | |
| 18 | g.13884728A>G | CA8902404 | MC2R | c.791T>C (p.Leu264Ser) | dbSNP ExAC gnomAD v2 |
| 18 | g.13884728A>T | CA401993917 | MC2R | c.791T>A (p.Leu264Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884729A>C | CA401993920 | MC2R | c.790T>G (p.Leu264Val) | |
| 18 | g.13884729A>G | CA503010694 | MC2R | c.790T>C (p.Leu264=) | gnomAD v4 |
| 18 | g.13884729A>T | CA401993922 | MC2R | c.790T>A (p.Leu264Met) | |
| 18 | g.13884730C>A | CA401993923 | MC2R | c.789G>T (p.Met263Ile) | |
| 18 | g.13884730C>G | CA401993925 | MC2R | c.789G>C (p.Met263Ile) | |
| 18 | g.13884730C>T | CA401993927 | MC2R | c.789G>A (p.Met263Ile) | |
| 18 | g.13884731A>C | CA401993930 | MC2R | c.788T>G (p.Met263Arg) | |
| 18 | g.13884731A>G | CA401993932 | MC2R | c.788T>C (p.Met263Thr) | |
| 18 | g.13884731A>T | CA401993933 | MC2R | c.788T>A (p.Met263Lys) | |
| 18 | g.13884732T>A | CA401993934 | MC2R | c.787A>T (p.Met263Leu) | gnomAD v4 |
| 18 | g.13884732T>C | CA401993936 | MC2R | c.787A>G (p.Met263Val) | |
| 18 | g.13884732T>G | CA401993938 | MC2R | c.787A>C (p.Met263Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884732T= | CA2285919245 | MC2R | c.787A= (p.Met263=) | |
| 18 | g.13884733G>A | CA503010695 | MC2R | c.786C>T (p.Gly262=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884733G>C | CA503010696 | MC2R | c.786C>G (p.Gly262=) | |
| 18 | g.13884733G= | CA2285919246 | MC2R | c.786C= (p.Gly262=) | |
| 18 | g.13884733G>T | CA503010697 | MC2R | c.786C>A (p.Gly262=) | |
| 18 | g.13884734C>A | CA401993943 | MC2R | c.785G>T (p.Gly262Val) | |
| 18 | g.13884734C= | CA2285919247 | MC2R | c.785G= (p.Gly262=) | |
| 18 | g.13884734C>G | CA401993942 | MC2R | c.785G>C (p.Gly262Ala) | |
| 18 | g.13884734C>T | CA296828583 | MC2R | c.785G>A (p.Gly262Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884735C>A | CA401993944 | MC2R | c.784G>T (p.Gly262Cys) | |
| 18 | g.13884735C= | CA2285919248 | MC2R | c.784G= (p.Gly262=) | |
| 18 | g.13884735C>G | CA401993945 | MC2R | c.784G>C (p.Gly262Arg) | |
| 18 | g.13884735C>T | CA8902405 | MC2R | c.784G>A (p.Gly262Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884736G>A | CA8902406 | MC2R | c.783C>T (p.Asn261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884736G>C | CA401993949 | MC2R | c.783C>G (p.Asn261Lys) | |
| 18 | g.13884736G= | CA2285919249 | MC2R | c.783C= (p.Asn261=) | |
| 18 | g.13884736G>T | CA401993951 | MC2R | c.783C>A (p.Asn261Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884737T>A | CA401993953 | MC2R | c.782A>T (p.Asn261Ile) | |
| 18 | g.13884737T>C | CA401993954 | MC2R | c.782A>G (p.Asn261Ser) | |
| 18 | g.13884737T>G | CA401993955 | MC2R | c.782A>C (p.Asn261Thr) | |
| 18 | g.13884738T>A | CA401993956 | MC2R | c.781A>T (p.Asn261Tyr) | |
| 18 | g.13884738T>C | CA401993958 | MC2R | c.781A>G (p.Asn261Asp) | |
| 18 | g.13884738T>G | CA401993960 | MC2R | c.781A>C (p.Asn261His) | |
| 18 | g.13884739C>A | CA503010698 | MC2R | c.780G>T (p.Val260=) | |
| 18 | g.13884739C>G | CA503010699 | MC2R | c.780G>C (p.Val260=) | |
| 18 | g.13884739C>T | CA503010700 | MC2R | c.780G>A (p.Val260=) | |
| 18 | g.13884740A>C | CA401993962 | MC2R | c.779T>G (p.Val260Gly) | gnomAD v4 |
| 18 | g.13884740A>G | CA401993966 | MC2R | c.779T>C (p.Val260Ala) | |
| 18 | g.13884740A>T | CA401993964 | MC2R | c.779T>A (p.Val260Glu) | |
| 18 | g.13884741C>A | CA401993968 | MC2R | c.778G>T (p.Val260Leu) | |
| 18 | g.13884741C>G | CA401993969 | MC2R | c.778G>C (p.Val260Leu) | |
| 18 | g.13884741C>T | CA401993971 | MC2R | c.778G>A (p.Val260Met) | |
| 18 | g.13884742C>A | CA401993974 | MC2R | c.777G>T (p.Gln259His) | COSMIC |
| 18 | g.13884742C>G | CA401993975 | MC2R | c.777G>C (p.Gln259His) | |
| 18 | g.13884742C>T | CA503010701 | MC2R | c.777G>A (p.Gln259=) | |
| 18 | g.13884743T>A | CA401993978 | MC2R | c.776A>T (p.Gln259Leu) | |
| 18 | g.13884743T>C | CA401993979 | MC2R | c.776A>G (p.Gln259Arg) | |
| 18 | g.13884743T>G | CA401993981 | MC2R | c.776A>C (p.Gln259Pro) | |
| 18 | g.13884744G>A | CA401993982 | MC2R | c.775C>T (p.Gln259Ter) | |
| 18 | g.13884744G>C | CA401993983 | MC2R | c.775C>G (p.Gln259Glu) | |
| 18 | g.13884744G>T | CA401993984 | MC2R | c.775C>A (p.Gln259Lys) | |
| 18 | g.13884745del | CA2641150772 | MC2R | c.775del (p.Gln259ArgfsTer2) | gnomAD v4 |
| 18 | g.13884745G>A | CA503010702 | MC2R | c.774C>T (p.Phe258=) | |
| 18 | g.13884745G>C | CA401993987 | MC2R | c.774C>G (p.Phe258Leu) | |
| 18 | g.13884745G>T | CA401993988 | MC2R | c.774C>A (p.Phe258Leu) | |
| 18 | g.13884746A>C | CA401993994 | MC2R | c.773T>G (p.Phe258Cys) | |
| 18 | g.13884746A>G | CA401993992 | MC2R | c.773T>C (p.Phe258Ser) | |
| 18 | g.13884746A>T | CA401993990 | MC2R | c.773T>A (p.Phe258Tyr) | |
| 18 | g.13884747A>C | CA401993996 | MC2R | c.772T>G (p.Phe258Val) | |
| 18 | g.13884747A>G | CA401993998 | MC2R | c.772T>C (p.Phe258Leu) | |
| 18 | g.13884747A>T | CA401994000 | MC2R | c.772T>A (p.Phe258Ile) | |
| 18 | g.13884748G>A | CA8902408 | MC2R | c.771C>T (p.Leu257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884748G>C | CA8902407 | MC2R | c.771C>G (p.Leu257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884748G= | CA2285919250 | MC2R | c.771C= (p.Leu257=) | |
| 18 | g.13884748G>T | CA503010703 | MC2R | c.771C>A (p.Leu257=) | |
| 18 | g.13884749A>C | CA401994006 | MC2R | c.770T>G (p.Leu257Arg) | |
| 18 | g.13884749A>G | CA401994007 | MC2R | c.770T>C (p.Leu257Pro) | |
| 18 | g.13884749A>T | CA401994009 | MC2R | c.770T>A (p.Leu257His) | |
| 18 | g.13884750G>A | CA401994010 | MC2R | c.769C>T (p.Leu257Phe) | |
| 18 | g.13884750G>C | CA401994012 | MC2R | c.769C>G (p.Leu257Val) | dbSNP gnomAD v4 |
| 18 | g.13884750G= | CA2285919251 | MC2R | c.769C= (p.Leu257=) | |
| 18 | g.13884750G>T | CA401994014 | MC2R | c.769C>A (p.Leu257Ile) | |
| 18 | g.13884751A= | CA2285919252 | MC2R | c.768T= (p.Ser256=) | |
| 18 | g.13884751A>C | CA503010706 | MC2R | c.768T>G (p.Ser256=) | |
| 18 | g.13884751A>G | CA503010704 | MC2R | c.768T>C (p.Ser256=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884751A>T | CA503010705 | MC2R | c.768T>A (p.Ser256=) | |
| 18 | g.13884752G>A | CA401994016 | MC2R | c.767C>T (p.Ser256Phe) | ClinVar dbSNP gnomAD v4 |
| 18 | g.13884752G>C | CA401994017 | MC2R | c.767C>G (p.Ser256Cys) | |
| 18 | g.13884752G= | CA2285919253 | MC2R | c.767C= (p.Ser256=) | |
| 18 | g.13884752G>T | CA401994019 | MC2R | c.767C>A (p.Ser256Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884753A>C | CA401994024 | MC2R | c.766T>G (p.Ser256Ala) | |
| 18 | g.13884753A>G | CA401994025 | MC2R | c.766T>C (p.Ser256Pro) | |
| 18 | g.13884753A>T | CA401994021 | MC2R | c.766T>A (p.Ser256Thr) | |
| 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 |
| 18 | g.13884767C= | CA2285919262 | MC2R | c.752G= (p.Cys251=) | |
| 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.13884768A= | CA2285919263 | MC2R | c.751T= (p.Cys251=) | |
| 18 | g.13884768A>C | CA401994087 | MC2R | c.751T>G (p.Cys251Gly) | gnomAD v4 |
| 18 | g.13884768A>G | CA401994088 | MC2R | c.751T>C (p.Cys251Arg) | dbSNP |
| 18 | g.13884768A>T | CA401994089 | MC2R | c.751T>A (p.Cys251Ser) | |
| 18 | g.13884769G>A | CA503248034 | MC2R | c.750C>T (p.Tyr250=) | |
| 18 | g.13884769G>C | CA401994093 | MC2R | c.750C>G (p.Tyr250Ter) | |
| 18 | g.13884769G>T | CA401994092 | MC2R | c.750C>A (p.Tyr250Ter) | |
| 18 | g.13884770T>A | CA401994096 | MC2R | c.749A>T (p.Tyr250Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884770T>C | CA401994098 | MC2R | c.749A>G (p.Tyr250Cys) | |
| 18 | g.13884770T>G | CA401994100 | MC2R | c.749A>C (p.Tyr250Ser) | |
| 18 | g.13884770T= | CA2285919264 | MC2R | c.749A= (p.Tyr250=) | |
| 18 | g.13884771A= | CA2285919265 | MC2R | c.748T= (p.Tyr250=) | |
| 18 | g.13884771A>C | CA401994103 | MC2R | c.748T>G (p.Tyr250Asp) | |
| 18 | g.13884771A>G | CA401994104 | MC2R | c.748T>C (p.Tyr250His) | dbSNP |
| 18 | g.13884771A>T | CA401994106 | MC2R | c.748T>A (p.Tyr250Asn) | |
| 18 | g.13884772G>A | CA503248041 | MC2R | c.747C>T (p.Pro249=) | |
| 18 | g.13884772G>C | CA503248040 | MC2R | c.747C>G (p.Pro249=) | |
| 18 | g.13884772G>T | CA503248039 | MC2R | c.747C>A (p.Pro249=) | |
| 18 | g.13884773G>A | CA401994113 | MC2R | c.746C>T (p.Pro249Leu) | |
| 18 | g.13884773G>C | CA401994108 | MC2R | c.746C>G (p.Pro249Arg) | |
| 18 | g.13884773G>T | CA401994110 | MC2R | c.746C>A (p.Pro249His) | |
| 18 | g.13884774G>A | CA401994115 | MC2R | c.745C>T (p.Pro249Ser) | gnomAD v4 |
| 18 | g.13884774G>C | CA8902412 | MC2R | c.745C>G (p.Pro249Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884774G= | CA2285919266 | MC2R | c.745C= (p.Pro249=) | |
| 18 | g.13884774G>T | CA401994118 | MC2R | c.745C>A (p.Pro249Thr) | |
| 18 | g.13884775G>A | CA503248055 | MC2R | c.744C>T (p.Asn248=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884775G>C | CA401994121 | MC2R | c.744C>G (p.Asn248Lys) | |
| 18 | g.13884775G= | CA2285919267 | MC2R | c.744C= (p.Asn248=) | |
| 18 | g.13884775G>T | CA8902413 | MC2R | c.744C>A (p.Asn248Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884776T>A | CA401994124 | MC2R | c.743A>T (p.Asn248Ile) | |
| 18 | g.13884776T>C | CA401994126 | MC2R | c.743A>G (p.Asn248Ser) | |
| 18 | g.13884776T>G | CA401994128 | MC2R | c.743A>C (p.Asn248Thr) | |
| 18 | g.13884777T>A | CA401994131 | MC2R | c.742A>T (p.Asn248Tyr) | |
| 18 | g.13884777T>C | CA401994133 | MC2R | c.742A>G (p.Asn248Asp) | dbSNP |
| 18 | g.13884777T>G | CA401994134 | MC2R | c.742A>C (p.Asn248His) | |
| 18 | g.13884777T= | CA2285919268 | MC2R | c.742A= (p.Asn248=) | |
| 18 | g.13884778_13884780del | CA2641150774 | MC2R | c.740_742del (p.Ser247del) | gnomAD v4 |
| 18 | g.13884778A>C | CA401994138 | MC2R | c.741T>G (p.Ser247Arg) | |
| 18 | g.13884778A>G | CA503248062 | MC2R | c.741T>C (p.Ser247=) | |
| 18 | g.13884778A>T | CA401994139 | MC2R | c.741T>A (p.Ser247Arg) | |
| 18 | g.13884779del | CA2641150775 | MC2R | c.740del (p.Ser247IlefsTer14) | gnomAD v4 |
| 18 | g.13884779C>A | CA401994144 | MC2R | c.740G>T (p.Ser247Ile) | |
| 18 | g.13884779C>G | CA401994142 | MC2R | c.740G>C (p.Ser247Thr) | |
| 18 | g.13884779C>T | CA401994143 | MC2R | c.740G>A (p.Ser247Asn) | |
| 18 | g.13884780T>A | CA401994147 | MC2R | c.739A>T (p.Ser247Cys) | gnomAD v4 |
| 18 | g.13884780T>C | CA401994149 | MC2R | c.739A>G (p.Ser247Gly) | |
| 18 | g.13884780T>G | CA401994150 | MC2R | c.739A>C (p.Ser247Arg) | |
| 18 | g.13884781T>A | CA503248068 | MC2R | c.738A>T (p.Pro246=) | |
| 18 | g.13884781T>C | CA503248069 | MC2R | c.738A>G (p.Pro246=) | |
| 18 | g.13884781T>G | CA503248073 | MC2R | c.738A>C (p.Pro246=) | |
| 18 | g.13884782G>A | CA401994153 | MC2R | c.737C>T (p.Pro246Leu) | |
| 18 | g.13884782G>C | CA401994155 | MC2R | c.737C>G (p.Pro246Arg) | |
| 18 | g.13884782G>T | CA401994157 | MC2R | c.737C>A (p.Pro246Gln) | |
| 18 | g.13884783G>A | CA401994163 | MC2R | c.736C>T (p.Pro246Ser) | |
| 18 | g.13884783G>C | CA401994159 | MC2R | c.736C>G (p.Pro246Ala) | |
| 18 | g.13884783G>T | CA401994161 | MC2R | c.736C>A (p.Pro246Thr) | |
| 18 | g.13884784G>A | CA503248077 | MC2R | c.735C>T (p.Cys245=) | |
| 18 | g.13884784G>C | CA401994165 | MC2R | c.735C>G (p.Cys245Trp) | |
| 18 | g.13884784G>T | CA401994166 | MC2R | c.735C>A (p.Cys245Ter) | COSMIC |
| 18 | g.13884785C>A | CA401994169 | MC2R | c.734G>T (p.Cys245Phe) | |
| 18 | g.13884785C>G | CA401994171 | MC2R | c.734G>C (p.Cys245Ser) | |
| 18 | g.13884785C>T | CA401994173 | MC2R | c.734G>A (p.Cys245Tyr) | gnomAD v4 |
| 18 | g.13884786A>C | CA401994175 | MC2R | c.733T>G (p.Cys245Gly) | |
| 18 | g.13884786A>G | CA401994178 | MC2R | c.733T>C (p.Cys245Arg) | |
| 18 | g.13884786A>T | CA401994176 | MC2R | c.733T>A (p.Cys245Ser) | |
| 18 | g.13884787G>A | CA503248084 | MC2R | c.732C>T (p.Phe244=) | |
| 18 | g.13884787G>C | CA401994180 | MC2R | c.732C>G (p.Phe244Leu) | |
| 18 | g.13884787G>T | CA401994182 | MC2R | c.732C>A (p.Phe244Leu) | COSMIC |
| 18 | g.13884788A>C | CA401994185 | MC2R | c.731T>G (p.Phe244Cys) | |
| 18 | g.13884788A>G | CA401994186 | MC2R | c.731T>C (p.Phe244Ser) | |
| 18 | g.13884788A>T | CA401994188 | MC2R | c.731T>A (p.Phe244Tyr) | |
| 18 | g.13884789A>C | CA401994190 | MC2R | c.730T>G (p.Phe244Val) | |
| 18 | g.13884789A>G | CA401994191 | MC2R | c.730T>C (p.Phe244Leu) | |
| 18 | g.13884789A>T | CA401994193 | MC2R | c.730T>A (p.Phe244Ile) | |
| 18 | g.13884790T>A | CA503248089 | MC2R | c.729A>T (p.Thr243=) | |
| 18 | g.13884790T>C | CA503248088 | MC2R | c.729A>G (p.Thr243=) | dbSNP |
| 18 | g.13884790T>G | CA503248087 | MC2R | c.729A>C (p.Thr243=) | |
| 18 | g.13884790T= | CA2285919269 | MC2R | c.729A= (p.Thr243=) | |
| 18 | g.13884791G>A | CA401994196 | MC2R | c.728C>T (p.Thr243Ile) | dbSNP gnomAD v2 |
| 18 | g.13884791G>C | CA401994198 | MC2R | c.728C>G (p.Thr243Arg) | |
| 18 | g.13884791G= | CA2285919270 | MC2R | c.728C= (p.Thr243=) | |
| 18 | g.13884791G>T | CA296828625 | MC2R | c.728C>A (p.Thr243Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884792T>A | CA401994201 | MC2R | c.727A>T (p.Thr243Ser) | |
| 18 | g.13884792T>C | CA401994205 | MC2R | c.727A>G (p.Thr243Ala) | |
| 18 | g.13884792T>G | CA401994203 | MC2R | c.727A>C (p.Thr243Pro) | |
| 18 | g.13884795_13884797del | CA2641150776 | MC2R | c.725_727del (p.Met242del) | gnomAD v4 |
| 18 | g.13884793C>A | CA401994207 | MC2R | c.726G>T (p.Met242Ile) | |
| 18 | g.13884793C>G | CA401994211 | MC2R | c.726G>C (p.Met242Ile) | gnomAD v4 |
| 18 | g.13884793C>T | CA401994209 | MC2R | c.726G>A (p.Met242Ile) | COSMIC |
| 18 | g.13884794A>C | CA401994212 | MC2R | c.725T>G (p.Met242Arg) | |
| 18 | g.13884794A>G | CA401994214 | MC2R | c.725T>C (p.Met242Thr) | gnomAD v4 |
| 18 | g.13884794A>T | CA401994216 | MC2R | c.725T>A (p.Met242Lys) | |
| 18 | g.13884795T>A | CA401994218 | MC2R | c.724A>T (p.Met242Leu) | gnomAD v4 |
| 18 | g.13884795T>C | CA8902414 | MC2R | c.724A>G (p.Met242Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884795T>G | CA401994221 | MC2R | c.724A>C (p.Met242Leu) | |
| 18 | g.13884795T= | CA2285919271 | MC2R | c.724A= (p.Met242=) | |
| 18 | g.13884796C>A | CA401994222 | MC2R | c.723G>T (p.Leu241Phe) | |
| 18 | g.13884796C= | CA2285919272 | MC2R | c.723G= (p.Leu241=) | |
| 18 | g.13884796C>G | CA401994224 | MC2R | c.723G>C (p.Leu241Phe) | dbSNP |
| 18 | g.13884796C>T | CA503248106 | MC2R | c.723G>A (p.Leu241=) | dbSNP COSMIC |
| 18 | g.13884797A>C | CA401994226 | MC2R | c.722T>G (p.Leu241Trp) | |
| 18 | g.13884797A>G | CA401994228 | MC2R | c.722T>C (p.Leu241Ser) | |
| 18 | g.13884797A>T | CA401994230 | MC2R | c.722T>A (p.Leu241Ter) | |
| 18 | g.13884798A= | CA2285919273 | MC2R | c.721T= (p.Leu241=) | |
| 18 | g.13884798A>C | CA401994234 | MC2R | c.721T>G (p.Leu241Val) | |
| 18 | g.13884798A>G | CA503248107 | MC2R | c.721T>C (p.Leu241=) | dbSNP COSMIC |
| 18 | g.13884798A>T | CA401994232 | MC2R | c.721T>A (p.Leu241Met) | |
| 18 | g.13884799G>A | CA503248109 | MC2R | c.720C>T (p.Leu240=) | |
| 18 | g.13884799G>C | CA503248110 | MC2R | c.720C>G (p.Leu240=) | |
| 18 | g.13884799G>T | CA503248112 | MC2R | c.720C>A (p.Leu240=) | gnomAD v4 |
| 18 | g.13884800A>C | CA401994237 | MC2R | c.719T>G (p.Leu240Arg) | |
| 18 | g.13884800A>G | CA401994239 | MC2R | c.719T>C (p.Leu240Pro) | |
| 18 | g.13884800A>T | CA401994241 | MC2R | c.719T>A (p.Leu240His) | |
| 18 | g.13884801G>A | CA8902415 | MC2R | c.718C>T (p.Leu240Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884801G>C | CA401994244 | MC2R | c.718C>G (p.Leu240Val) | |
| 18 | g.13884801G= | CA2285919274 | MC2R | c.718C= (p.Leu240=) | |
| 18 | g.13884801G>T | CA401994246 | MC2R | c.718C>A (p.Leu240Ile) | |
| 18 | g.13884802G>A | CA503248121 | MC2R | c.717C>T (p.Val239=) | dbSNP gnomAD v4 |
| 18 | g.13884802G>C | CA503248122 | MC2R | c.717C>G (p.Val239=) | |
| 18 | g.13884802G= | CA2285919275 | MC2R | c.717C= (p.Val239=) | |
| 18 | g.13884802G>T | CA503248123 | MC2R | c.717C>A (p.Val239=) | |
| 18 | g.13884803A>C | CA401994249 | MC2R | c.716T>G (p.Val239Gly) | |
| 18 | g.13884803A>G | CA401994250 | MC2R | c.716T>C (p.Val239Ala) | gnomAD v4 |
| 18 | g.13884803A>T | CA401994252 | MC2R | c.716T>A (p.Val239Asp) | |
| 18 | g.13884804C>A | CA401994254 | MC2R | c.715G>T (p.Val239Phe) | gnomAD v4 |
| 18 | g.13884804C= | CA2285919276 | MC2R | c.715G= (p.Val239=) | |
| 18 | g.13884804C>G | CA401994256 | MC2R | c.715G>C (p.Val239Leu) | |
| 18 | g.13884804C>T | CA8902416 | MC2R | c.715G>A (p.Val239Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884805A= | CA2285919277 | MC2R | c.714T= (p.His238=) | |
| 18 | g.13884805A>C | CA401994261 | MC2R | c.714T>G (p.His238Gln) | COSMIC |
| 18 | g.13884805A>G | CA503248125 | MC2R | c.714T>C (p.His238=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884805A>T | CA401994260 | MC2R | c.714T>A (p.His238Gln) | |
| 18 | g.13884806T>A | CA401994264 | MC2R | c.713A>T (p.His238Leu) | |
| 18 | g.13884806T>C | CA401994266 | MC2R | c.713A>G (p.His238Arg) | |
| 18 | g.13884806T>G | CA401994267 | MC2R | c.713A>C (p.His238Pro) | |
| 18 | g.13884807G>A | CA401994270 | MC2R | c.712C>T (p.His238Tyr) | dbSNP COSMIC |
| 18 | g.13884807G>C | CA401994272 | MC2R | c.712C>G (p.His238Asp) | |
| 18 | g.13884807G= | CA2285919278 | MC2R | c.712C= (p.His238=) | |
| 18 | g.13884807G>T | CA401994273 | MC2R | c.712C>A (p.His238Asn) | |
| 18 | g.13884808A= | CA2285919279 | MC2R | c.711T= (p.Leu237=) | |
| 18 | g.13884808A>C | CA8902417 | MC2R | c.711T>G (p.Leu237=) | dbSNP ExAC |
| 18 | g.13884808A>G | CA503248130 | MC2R | c.711T>C (p.Leu237=) | |
| 18 | g.13884808A>T | CA503248131 | MC2R | c.711T>A (p.Leu237=) | |
| 18 | g.13884809A>C | CA401994277 | MC2R | c.710T>G (p.Leu237Arg) | |
| 18 | g.13884809A>G | CA401994279 | MC2R | c.710T>C (p.Leu237Pro) | gnomAD v4 |
| 18 | g.13884809A>T | CA401994281 | MC2R | c.710T>A (p.Leu237His) | |
| 18 | g.13884810G>A | CA401994283 | MC2R | c.709C>T (p.Leu237Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884810G>C | CA401994284 | MC2R | c.709C>G (p.Leu237Val) | |
| 18 | g.13884810G= | CA2285919280 | MC2R | c.709C= (p.Leu237=) | |
| 18 | g.13884810G>T | CA401994286 | MC2R | c.709C>A (p.Leu237Ile) | |
| 18 | g.13884811C>A | CA503248132 | MC2R | c.708G>T (p.Val236=) | |
| 18 | g.13884811C>G | CA503248134 | MC2R | c.708G>C (p.Val236=) | dbSNP gnomAD v4 |
| 18 | g.13884811C>T | CA503248136 | MC2R | c.708G>A (p.Val236=) | |
| 18 | g.13884812A>C | CA401994290 | MC2R | c.707T>G (p.Val236Gly) | |
| 18 | g.13884812A>G | CA401994288 | MC2R | c.707T>C (p.Val236Ala) | |
| 18 | g.13884812A>T | CA401994289 | MC2R | c.707T>A (p.Val236Glu) | |
| 18 | g.13884813C>A | CA401994292 | MC2R | c.706G>T (p.Val236Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884813C= | CA2285919281 | MC2R | c.706G= (p.Val236=) | |
| 18 | g.13884813C>G | CA401994294 | MC2R | c.706G>C (p.Val236Leu) | |
| 18 | g.13884813C>T | CA401994295 | MC2R | c.706G>A (p.Val236Met) | gnomAD v4 |
| 18 | g.13884814A= | CA2285919282 | MC2R | c.705T= (p.Phe235=) | |
| 18 | g.13884814A>C | CA401994298 | MC2R | c.705T>G (p.Phe235Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884814A>G | CA503248144 | MC2R | c.705T>C (p.Phe235=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884814A>T | CA401994300 | MC2R | c.705T>A (p.Phe235Leu) | |
| 18 | g.13884815A>C | CA401994302 | MC2R | c.704T>G (p.Phe235Cys) | |
| 18 | g.13884815A>G | CA401994304 | MC2R | c.704T>C (p.Phe235Ser) | |
| 18 | g.13884815A>T | CA401994306 | MC2R | c.704T>A (p.Phe235Tyr) | |
| 18 | g.13884816A>C | CA401994309 | MC2R | c.703T>G (p.Phe235Val) | |
| 18 | g.13884816A>G | CA401994311 | MC2R | c.703T>C (p.Phe235Leu) | |
| 18 | g.13884816A>T | CA401994313 | MC2R | c.703T>A (p.Phe235Ile) | |
| 18 | g.13884816_13884817delinsAG | CA2285919283 | MC2R | c.702_703delinsCT (p.Pro234=) | |
| 18 | g.13884817G>A | CA503248156 | MC2R | c.702C>T (p.Pro234=) | gnomAD v4 |
| 18 | g.13884817G>C | CA503248153 | MC2R | c.702C>G (p.Pro234=) | |
| 18 | g.13884817G>T | CA503248151 | MC2R | c.702C>A (p.Pro234=) | |
| 18 | g.13884821dup | CA2811045715 | MC2R | c.702dup (p.Phe235LeufsTer14) | |
| 18 | g.13884821del | CA658653848 | MC2R | c.702del (p.Phe235LeufsTer7) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884818G>A | CA401994319 | MC2R | c.701C>T (p.Pro234Leu) | |
| 18 | g.13884818G>C | CA401994317 | MC2R | c.701C>G (p.Pro234Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884818G= | CA2285919284 | MC2R | c.701C= (p.Pro234=) | |
| 18 | g.13884818G>T | CA401994315 | MC2R | c.701C>A (p.Pro234His) | gnomAD v4 |
| 18 | g.13884819G>A | CA401994321 | MC2R | c.700C>T (p.Pro234Ser) | gnomAD v4 |
| 18 | g.13884819G>C | CA401994323 | MC2R | c.700C>G (p.Pro234Ala) | gnomAD v4 |
| 18 | g.13884819G>T | CA401994325 | MC2R | c.700C>A (p.Pro234Thr) | |
| 18 | g.13884820G>A | CA503248160 | MC2R | c.699C>T (p.Ala233=) | gnomAD v4 |
| 18 | g.13884820G>C | CA503248164 | MC2R | c.699C>G (p.Ala233=) | |
| 18 | g.13884820G>T | CA503248165 | MC2R | c.699C>A (p.Ala233=) | COSMIC |
| 18 | g.13884821G>A | CA8902418 | MC2R | c.698C>T (p.Ala233Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13884821G>C | CA401994328 | MC2R | c.698C>G (p.Ala233Gly) | dbSNP gnomAD v4 |
| 18 | g.13884821G= | CA2285919285 | MC2R | c.698C= (p.Ala233=) | |
| 18 | g.13884821G>T | CA401994330 | MC2R | c.698C>A (p.Ala233Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884822C>A | CA401994334 | MC2R | c.697G>T (p.Ala233Ser) | |
| 18 | g.13884822C= | CA2285919286 | MC2R | c.697G= (p.Ala233=) | |
| 18 | g.13884822C>G | CA401994332 | MC2R | c.697G>C (p.Ala233Pro) | dbSNP gnomAD v2 |
| 18 | g.13884822C>T | CA8902419 | MC2R | c.697G>A (p.Ala233Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884823C>A | CA401994337 | MC2R | c.696G>T (p.Trp232Cys) | gnomAD v4 |
| 18 | g.13884823C>G | CA401994339 | MC2R | c.696G>C (p.Trp232Cys) | |
| 18 | g.13884823C>T | CA401994340 | MC2R | c.696G>A (p.Trp232Ter) | |
| 18 | g.13884824C>A | CA401994344 | MC2R | c.695G>T (p.Trp232Leu) | |
| 18 | g.13884824C>G | CA401994345 | MC2R | c.695G>C (p.Trp232Ser) | |
| 18 | g.13884824C>T | CA401994346 | MC2R | c.695G>A (p.Trp232Ter) | |
| 18 | g.13884825A>C | CA401994351 | MC2R | c.694T>G (p.Trp232Gly) | |
| 18 | g.13884825A>G | CA401994348 | MC2R | c.694T>C (p.Trp232Arg) | |
| 18 | g.13884825A>T | CA401994350 | MC2R | c.694T>A (p.Trp232Arg) | |
| 18 | g.13884826G>A | CA503248182 | MC2R | c.693C>T (p.Cys231=) | gnomAD v4 |
| 18 | g.13884826G>C | CA401994354 | MC2R | c.693C>G (p.Cys231Trp) | |
| 18 | g.13884826G>T | CA401994356 | MC2R | c.693C>A (p.Cys231Ter) | |
| 18 | g.13884827C>A | CA401994359 | MC2R | c.692G>T (p.Cys231Phe) | |
| 18 | g.13884827C>G | CA401994360 | MC2R | c.692G>C (p.Cys231Ser) | gnomAD v4 |
| 18 | g.13884827C>T | CA401994362 | MC2R | c.692G>A (p.Cys231Tyr) | |
| 18 | g.13884828A>C | CA401994364 | MC2R | c.691T>G (p.Cys231Gly) | |
| 18 | g.13884828A>G | CA401994365 | MC2R | c.691T>C (p.Cys231Arg) | |
| 18 | g.13884828A>T | CA401994366 | MC2R | c.691T>A (p.Cys231Ser) |