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.60371534A>C | CA504305248 | MC4R | c.816T>G (p.Pro272=) | |
| 18 | g.60371534A>G | CA504305249 | MC4R | c.816T>C (p.Pro272=) | |
| 18 | g.60371534A>T | CA504305251 | MC4R | c.816T>A (p.Pro272=) | |
| 18 | g.60371535G>A | CA402719021 | MC4R | c.815C>T (p.Pro272Leu) | ClinVar |
| 18 | g.60371535G>C | CA402719022 | MC4R | c.815C>G (p.Pro272Arg) | ClinVar dbSNP |
| 18 | g.60371535G= | CA2307359002 | MC4R | c.815C= (p.Pro272=) | |
| 18 | g.60371535G>T | CA402719023 | MC4R | c.815C>A (p.Pro272His) | |
| 18 | g.60371536G>A | CA402719026 | MC4R | c.814C>T (p.Pro272Ser) | |
| 18 | g.60371536G>C | CA402719025 | MC4R | c.814C>G (p.Pro272Ala) | |
| 18 | g.60371536G>T | CA402719024 | MC4R | c.814C>A (p.Pro272Thr) | |
| 18 | g.60371537A>C | CA402719027 | MC4R | c.813T>G (p.Cys271Trp) | |
| 18 | g.60371537A>G | CA504305262 | MC4R | c.813T>C (p.Cys271=) | gnomAD v4 |
| 18 | g.60371537A>T | CA402719028 | MC4R | c.813T>A (p.Cys271Ter) | |
| 18 | g.60371538C>A | CA402719029 | MC4R | c.812G>T (p.Cys271Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371538C= | CA2307359003 | MC4R | c.812G= (p.Cys271=) | |
| 18 | g.60371538C>G | CA402719030 | MC4R | c.812G>C (p.Cys271Ser) | |
| 18 | g.60371538C>T | CA210718 | MC4R | c.812G>A (p.Cys271Tyr) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371539A= | CA2307359004 | MC4R | c.811T= (p.Cys271=) | |
| 18 | g.60371539A>C | CA402719031 | MC4R | c.811T>G (p.Cys271Gly) | |
| 18 | g.60371539A>G | CA16043070 | MC4R | c.811T>C (p.Cys271Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371539A>T | CA402719032 | MC4R | c.811T>A (p.Cys271Ser) | |
| 18 | g.60371540A>C | CA504305269 | MC4R | c.810T>G (p.Ser270=) | |
| 18 | g.60371540A>G | CA504305270 | MC4R | c.810T>C (p.Ser270=) | |
| 18 | g.60371540A>T | CA504305271 | MC4R | c.810T>A (p.Ser270=) | |
| 18 | g.60371541G>A | CA301530013 | MC4R | c.809C>T (p.Ser270Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371541G>C | CA402719033 | MC4R | c.809C>G (p.Ser270Cys) | |
| 18 | g.60371541G= | CA2307359005 | MC4R | c.809C= (p.Ser270=) | |
| 18 | g.60371541G>T | CA402719034 | MC4R | c.809C>A (p.Ser270Tyr) | |
| 18 | g.60371542A>C | CA402719037 | MC4R | c.808T>G (p.Ser270Ala) | |
| 18 | g.60371542A>G | CA402719036 | MC4R | c.808T>C (p.Ser270Pro) | |
| 18 | g.60371542A>T | CA402719035 | MC4R | c.808T>A (p.Ser270Thr) | |
| 18 | g.60371543G>A | CA504305135 | MC4R | c.807C>T (p.Ile269=) | |
| 18 | g.60371543G>C | CA402719038 | MC4R | c.807C>G (p.Ile269Met) | |
| 18 | g.60371543G>T | CA504305136 | MC4R | c.807C>A (p.Ile269=) | dbSNP COSMIC |
| 18 | g.60371544A= | CA2307359006 | MC4R | c.806T= (p.Ile269=) | |
| 18 | g.60371544A>C | CA402719039 | MC4R | c.806T>G (p.Ile269Ser) | |
| 18 | g.60371544A>G | CA402719040 | MC4R | c.806T>C (p.Ile269Thr) | |
| 18 | g.60371544A>T | CA214146 | MC4R | c.806T>A (p.Ile269Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371545T>A | CA402719041 | MC4R | c.805A>T (p.Ile269Phe) | |
| 18 | g.60371545T>C | CA402719042 | MC4R | c.805A>G (p.Ile269Val) | dbSNP |
| 18 | g.60371545T>G | CA402719043 | MC4R | c.805A>C (p.Ile269Leu) | |
| 18 | g.60371545T= | CA2307359007 | MC4R | c.805A= (p.Ile269=) | |
| 18 | g.60371546G>A | CA504305142 | MC4R | c.804C>T (p.Tyr268=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371546G>C | CA402719044 | MC4R | c.804C>G (p.Tyr268Ter) | |
| 18 | g.60371546G= | CA2307359008 | MC4R | c.804C= (p.Tyr268=) | |
| 18 | g.60371546G>T | CA402719045 | MC4R | c.804C>A (p.Tyr268Ter) | |
| 18 | g.60371547T>A | CA402719046 | MC4R | c.803A>T (p.Tyr268Phe) | |
| 18 | g.60371547T>C | CA402719047 | MC4R | c.803A>G (p.Tyr268Cys) | |
| 18 | g.60371547T>G | CA402719048 | MC4R | c.803A>C (p.Tyr268Ser) | |
| 18 | g.60371548del | CA2812704150 | MC4R | c.802del (p.Tyr268ThrfsTer23) | |
| 18 | g.60371548A>C | CA402719051 | MC4R | c.802T>G (p.Tyr268Asp) | COSMIC |
| 18 | g.60371548A>G | CA402719050 | MC4R | c.802T>C (p.Tyr268His) | |
| 18 | g.60371548A>T | CA402719049 | MC4R | c.802T>A (p.Tyr268Asn) | gnomAD v4 |
| 18 | g.60371549G>A | CA504305148 | MC4R | c.801C>T (p.Phe267=) | |
| 18 | g.60371549G>C | CA402719052 | MC4R | c.801C>G (p.Phe267Leu) | |
| 18 | g.60371549G>T | CA402719053 | MC4R | c.801C>A (p.Phe267Leu) | |
| 18 | g.60371550A>C | CA402719054 | MC4R | c.800T>G (p.Phe267Cys) | |
| 18 | g.60371550A>G | CA402719055 | MC4R | c.800T>C (p.Phe267Ser) | |
| 18 | g.60371550A>T | CA402719056 | MC4R | c.800T>A (p.Phe267Tyr) | |
| 18 | g.60371551A>C | CA402719057 | MC4R | c.799T>G (p.Phe267Val) | |
| 18 | g.60371551A>G | CA402719058 | MC4R | c.799T>C (p.Phe267Leu) | |
| 18 | g.60371551A>T | CA402719059 | MC4R | c.799T>A (p.Phe267Ile) | |
| 18 | g.60371552T>A | CA504305152 | MC4R | c.798A>T (p.Ile266=) | |
| 18 | g.60371552T>C | CA402719060 | MC4R | c.798A>G (p.Ile266Met) | |
| 18 | g.60371552T>G | CA504305153 | MC4R | c.798A>C (p.Ile266=) | |
| 18 | g.60371553A>C | CA402719061 | MC4R | c.797T>G (p.Ile266Arg) | |
| 18 | g.60371553A>G | CA402719062 | MC4R | c.797T>C (p.Ile266Thr) | |
| 18 | g.60371553A>T | CA402719063 | MC4R | c.797T>A (p.Ile266Lys) | gnomAD v4 |
| 18 | g.60371554T>A | CA402719065 | MC4R | c.796A>T (p.Ile266Leu) | |
| 18 | g.60371554T>C | CA402719064 | MC4R | c.796A>G (p.Ile266Val) | gnomAD v4 |
| 18 | g.60371554T>G | CA8980834 | MC4R | c.796A>C (p.Ile266Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371554T= | CA2307359009 | MC4R | c.796A= (p.Ile266=) | |
| 18 | g.60371555T>A | CA402719066 | MC4R | c.795A>T (p.Leu265Phe) | |
| 18 | g.60371555T>C | CA504305159 | MC4R | c.795A>G (p.Leu265=) | gnomAD v4 |
| 18 | g.60371555T>G | CA402719067 | MC4R | c.795A>C (p.Leu265Phe) | |
| 18 | g.60371556A>C | CA402719068 | MC4R | c.794T>G (p.Leu265Ter) | |
| 18 | g.60371556A>G | CA402719069 | MC4R | c.794T>C (p.Leu265Ser) | |
| 18 | g.60371556A>T | CA402719070 | MC4R | c.794T>A (p.Leu265Ter) | |
| 18 | g.60371557A>C | CA402719071 | MC4R | c.793T>G (p.Leu265Val) | |
| 18 | g.60371557A>G | CA504305164 | MC4R | c.793T>C (p.Leu265=) | |
| 18 | g.60371557A>T | CA402719072 | MC4R | c.793T>A (p.Leu265Ile) | |
| 18 | g.60371558G>A | CA301530014 | MC4R | c.792C>T (p.His264=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371558G>C | CA402719073 | MC4R | c.792C>G (p.His264Gln) | |
| 18 | g.60371558G= | CA2307359010 | MC4R | c.792C= (p.His264=) | |
| 18 | g.60371558G>T | CA402719074 | MC4R | c.792C>A (p.His264Gln) | |
| 18 | g.60371559T>A | CA402719075 | MC4R | c.791A>T (p.His264Leu) | |
| 18 | g.60371559T>C | CA402719076 | MC4R | c.791A>G (p.His264Arg) | dbSNP |
| 18 | g.60371559T>G | CA402719077 | MC4R | c.791A>C (p.His264Pro) | |
| 18 | g.60371559T= | CA2307359011 | MC4R | c.791A= (p.His264=) | |
| 18 | g.60371560G>A | CA402719078 | MC4R | c.790C>T (p.His264Tyr) | |
| 18 | g.60371560G>C | CA402719079 | MC4R | c.790C>G (p.His264Asp) | |
| 18 | g.60371560G>T | CA402719080 | MC4R | c.790C>A (p.His264Asn) | |
| 18 | g.60371561G>A | CA504305168 | MC4R | c.789C>T (p.Leu263=) | |
| 18 | g.60371561G>C | CA504305169 | MC4R | c.789C>G (p.Leu263=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371561G= | CA2307359012 | MC4R | c.789C= (p.Leu263=) | |
| 18 | g.60371561G>T | CA504305170 | MC4R | c.789C>A (p.Leu263=) | dbSNP |
| 18 | g.60371562A= | CA2307359013 | MC4R | c.788T= (p.Leu263=) | |
| 18 | g.60371562A>C | CA402719081 | MC4R | c.788T>G (p.Leu263Arg) | |
| 18 | g.60371562A>G | CA402719083 | MC4R | c.788T>C (p.Leu263Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371562A>T | CA402719082 | MC4R | c.788T>A (p.Leu263His) | |
| 18 | g.60371563G>A | CA402719084 | MC4R | c.787C>T (p.Leu263Phe) | |
| 18 | g.60371563G>C | CA402719085 | MC4R | c.787C>G (p.Leu263Val) | |
| 18 | g.60371563G= | CA2307359014 | MC4R | c.787C= (p.Leu263=) | |
| 18 | g.60371563G>T | CA8980835 | MC4R | c.787C>A (p.Leu263Ile) | dbSNP ExAC gnomAD v2 |
| 18 | g.60371564G>A | CA504305172 | MC4R | c.786C>T (p.Phe262=) | dbSNP |
| 18 | g.60371564G>C | CA402719086 | MC4R | c.786C>G (p.Phe262Leu) | |
| 18 | g.60371564G= | CA2307359015 | MC4R | c.786C= (p.Phe262=) | |
| 18 | g.60371564G>T | CA402719087 | MC4R | c.786C>A (p.Phe262Leu) | |
| 18 | g.60371564_60371565delinsGA | CA2307359016 | MC4R | c.785_786delinsTC (p.Phe262=) | |
| 18 | g.60371565A>C | CA402719088 | MC4R | c.785T>G (p.Phe262Cys) | |
| 18 | g.60371565A>G | CA402719089 | MC4R | c.785T>C (p.Phe262Ser) | |
| 18 | g.60371565A>T | CA402719090 | MC4R | c.785T>A (p.Phe262Tyr) | |
| 18 | g.60371566del | CA2307359017 | MC4R | c.785del (p.Phe262SerfsTer4) | dbSNP gnomAD v4 |
| 18 | g.60371566A= | CA2307359018 | MC4R | c.784T= (p.Phe262=) | |
| 18 | g.60371566A>C | CA402719091 | MC4R | c.784T>G (p.Phe262Val) | |
| 18 | g.60371566A>G | CA402719092 | MC4R | c.784T>C (p.Phe262Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371566A>T | CA402719093 | MC4R | c.784T>A (p.Phe262Ile) | |
| 18 | g.60371567G>A | CA504305177 | MC4R | c.783C>T (p.Phe261=) | |
| 18 | g.60371567G>C | CA402719095 | MC4R | c.783C>G (p.Phe261Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371567G= | CA2307359019 | MC4R | c.783C= (p.Phe261=) | |
| 18 | g.60371567G>T | CA402719094 | MC4R | c.783C>A (p.Phe261Leu) | |
| 18 | g.60371568A>C | CA402719096 | MC4R | c.782T>G (p.Phe261Cys) | |
| 18 | g.60371568A>G | CA402719097 | MC4R | c.782T>C (p.Phe261Ser) | |
| 18 | g.60371568A>T | CA402719098 | MC4R | c.782T>A (p.Phe261Tyr) | |
| 18 | g.60371569A= | CA2307359020 | MC4R | c.781T= (p.Phe261=) | |
| 18 | g.60371569A>C | CA402719099 | MC4R | c.781T>G (p.Phe261Val) | |
| 18 | g.60371569A>G | CA8980836 | MC4R | c.781T>C (p.Phe261Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371569A>T | CA402719100 | MC4R | c.781T>A (p.Phe261Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371570T>A | CA301530015 | MC4R | c.780A>T (p.Pro260=) | dbSNP |
| 18 | g.60371570T>C | CA504305179 | MC4R | c.780A>G (p.Pro260=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371570T>G | CA504305180 | MC4R | c.780A>C (p.Pro260=) | |
| 18 | g.60371570T= | CA2307359021 | MC4R | c.780A= (p.Pro260=) | |
| 18 | g.60371571G>A | CA402719101 | MC4R | c.779C>T (p.Pro260Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371571G>C | CA402719102 | MC4R | c.779C>G (p.Pro260Arg) | |
| 18 | g.60371571G= | CA2307359022 | MC4R | c.779C= (p.Pro260=) | |
| 18 | g.60371571G>T | CA402719103 | MC4R | c.779C>A (p.Pro260Gln) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371572G>A | CA402719104 | MC4R | c.778C>T (p.Pro260Ser) | |
| 18 | g.60371572G>C | CA8980837 | MC4R | c.778C>G (p.Pro260Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371572G= | CA2307359023 | MC4R | c.778C= (p.Pro260=) | |
| 18 | g.60371572G>T | CA402719105 | MC4R | c.778C>A (p.Pro260Thr) | |
| 18 | g.60371573G>A | CA504305186 | MC4R | c.777C>T (p.Ala259=) | gnomAD v4 |
| 18 | g.60371573G>C | CA504305190 | MC4R | c.777C>G (p.Ala259=) | |
| 18 | g.60371573G>T | CA504305188 | MC4R | c.777C>A (p.Ala259=) | |
| 18 | g.60371574G>A | CA8980838 | MC4R | c.776C>T (p.Ala259Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371574G>C | CA402719106 | MC4R | c.776C>G (p.Ala259Gly) | |
| 18 | g.60371574G= | CA2307359024 | MC4R | c.776C= (p.Ala259=) | |
| 18 | g.60371574G>T | CA402719107 | MC4R | c.776C>A (p.Ala259Asp) | COSMIC |
| 18 | g.60371575C>A | CA402719108 | MC4R | c.775G>T (p.Ala259Ser) | gnomAD v4 |
| 18 | g.60371575C= | CA2307359025 | MC4R | c.775G= (p.Ala259=) | |
| 18 | g.60371575C>G | CA402719109 | MC4R | c.775G>C (p.Ala259Pro) | |
| 18 | g.60371575C>T | CA301530016 | MC4R | c.775G>A (p.Ala259Thr) | dbSNP |
| 18 | g.60371576C>A | CA402719110 | MC4R | c.774G>T (p.Trp258Cys) | |
| 18 | g.60371576C>G | CA402719111 | MC4R | c.774G>C (p.Trp258Cys) | |
| 18 | g.60371576C>T | CA402719112 | MC4R | c.774G>A (p.Trp258Ter) | |
| 18 | g.60371576_60371577insAA | CA2642029297 | MC4R | c.773_774insTT (p.Trp258CysfsTer9) | gnomAD v4 |
| 18 | g.60371577C>A | CA402719113 | MC4R | c.773G>T (p.Trp258Leu) | |
| 18 | g.60371577C>G | CA402719114 | MC4R | c.773G>C (p.Trp258Ser) | gnomAD v4 |
| 18 | g.60371577C>T | CA402719115 | MC4R | c.773G>A (p.Trp258Ter) | gnomAD v4 |
| 18 | g.60371578A>C | CA402719116 | MC4R | c.772T>G (p.Trp258Gly) | |
| 18 | g.60371578A>G | CA402719117 | MC4R | c.772T>C (p.Trp258Arg) | |
| 18 | g.60371578A>T | CA402719118 | MC4R | c.772T>A (p.Trp258Arg) | |
| 18 | g.60371579G>A | CA8980839 | MC4R | c.771C>T (p.Cys257=) | dbSNP ExAC |
| 18 | g.60371579G>C | CA402719120 | MC4R | c.771C>G (p.Cys257Trp) | |
| 18 | g.60371579G= | CA2307359026 | MC4R | c.771C= (p.Cys257=) | |
| 18 | g.60371579G>T | CA402719119 | MC4R | c.771C>A (p.Cys257Ter) | COSMIC |
| 18 | g.60371580C>A | CA402719121 | MC4R | c.770G>T (p.Cys257Phe) | |
| 18 | g.60371580C= | CA2307359027 | MC4R | c.770G= (p.Cys257=) | |
| 18 | g.60371580C>G | CA8980840 | MC4R | c.770G>C (p.Cys257Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371580C>T | CA402719122 | MC4R | c.770G>A (p.Cys257Tyr) | |
| 18 | g.60371581A>C | CA402719123 | MC4R | c.769T>G (p.Cys257Gly) | |
| 18 | g.60371581A>G | CA402719125 | MC4R | c.769T>C (p.Cys257Arg) | |
| 18 | g.60371581A>T | CA402719124 | MC4R | c.769T>A (p.Cys257Ser) | |
| 18 | g.60371582G>A | CA504305209 | MC4R | c.768C>T (p.Val256=) | |
| 18 | g.60371582G>C | CA504305210 | MC4R | c.768C>G (p.Val256=) | |
| 18 | g.60371582G>T | CA504305211 | MC4R | c.768C>A (p.Val256=) | |
| 18 | g.60371583A>C | CA402719126 | MC4R | c.767T>G (p.Val256Gly) | |
| 18 | g.60371583A>G | CA402719127 | MC4R | c.767T>C (p.Val256Ala) | |
| 18 | g.60371583A>T | CA402719128 | MC4R | c.767T>A (p.Val256Asp) | gnomAD v4 |
| 18 | g.60371584C>A | CA402719129 | MC4R | c.766G>T (p.Val256Phe) | dbSNP |
| 18 | g.60371584C= | CA2307359028 | MC4R | c.766G= (p.Val256=) | |
| 18 | g.60371584C>G | CA402719130 | MC4R | c.766G>C (p.Val256Leu) | |
| 18 | g.60371584C>T | CA402719131 | MC4R | c.766G>A (p.Val256Ile) | gnomAD v4 |
| 18 | g.60371585A>C | CA504305215 | MC4R | c.765T>G (p.Val255=) | |
| 18 | g.60371585A>G | CA504305212 | MC4R | c.765T>C (p.Val255=) | |
| 18 | g.60371585A>T | CA504305213 | MC4R | c.765T>A (p.Val255=) | |
| 18 | g.60371586A= | CA2307359029 | MC4R | c.764T= (p.Val255=) | |
| 18 | g.60371586A>C | CA402719132 | MC4R | c.764T>G (p.Val255Gly) | |
| 18 | g.60371586A>G | CA402719133 | MC4R | c.764T>C (p.Val255Ala) | dbSNP gnomAD v4 |
| 18 | g.60371586A>T | CA402719134 | MC4R | c.764T>A (p.Val255Asp) | |
| 18 | g.60371587C>A | CA402719135 | MC4R | c.763G>T (p.Val255Phe) | dbSNP gnomAD v2 |
| 18 | g.60371587C= | CA2307359030 | MC4R | c.763G= (p.Val255=) | |
| 18 | g.60371587C>G | CA402719136 | MC4R | c.763G>C (p.Val255Leu) | |
| 18 | g.60371587C>T | CA8980841 | MC4R | c.763G>A (p.Val255Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371588A>C | CA402719138 | MC4R | c.762T>G (p.Phe254Leu) | |
| 18 | g.60371588A>G | CA504305221 | MC4R | c.762T>C (p.Phe254=) | gnomAD v4 |
| 18 | g.60371588A>T | CA402719137 | MC4R | c.762T>A (p.Phe254Leu) | |
| 18 | g.60371589A>C | CA402719139 | MC4R | c.761T>G (p.Phe254Cys) | |
| 18 | g.60371589A>G | CA402719140 | MC4R | c.761T>C (p.Phe254Ser) | |
| 18 | g.60371589A>T | CA402719141 | MC4R | c.761T>A (p.Phe254Tyr) | |
| 18 | g.60371590A>C | CA402719142 | MC4R | c.760T>G (p.Phe254Val) | |
| 18 | g.60371590A>G | CA402719143 | MC4R | c.760T>C (p.Phe254Leu) | |
| 18 | g.60371590A>T | CA402719144 | MC4R | c.760T>A (p.Phe254Ile) | |
| 18 | g.60371591G>A | CA504305232 | MC4R | c.759C>T (p.Val253=) | |
| 18 | g.60371591G>C | CA504305233 | MC4R | c.759C>G (p.Val253=) | |
| 18 | g.60371591G>T | CA504305234 | MC4R | c.759C>A (p.Val253=) | dbSNP |
| 18 | g.60371592A>C | CA402719145 | MC4R | c.758T>G (p.Val253Gly) | |
| 18 | g.60371592A>G | CA402719146 | MC4R | c.758T>C (p.Val253Ala) | |
| 18 | g.60371592A>T | CA402719147 | MC4R | c.758T>A (p.Val253Asp) | |
| 18 | g.60371593C>A | CA402719148 | MC4R | c.757G>T (p.Val253Phe) | |
| 18 | g.60371593C= | CA2307359031 | MC4R | c.757G= (p.Val253=) | |
| 18 | g.60371593C>G | CA402719149 | MC4R | c.757G>C (p.Val253Leu) | |
| 18 | g.60371593C>T | CA8980842 | MC4R | c.757G>A (p.Val253Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371594G>A | CA8980843 | MC4R | c.756C>T (p.Gly252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371594G>C | CA504305239 | MC4R | c.756C>G (p.Gly252=) | |
| 18 | g.60371594G= | CA2307359032 | MC4R | c.756C= (p.Gly252=) | |
| 18 | g.60371594G>T | CA504305240 | MC4R | c.756C>A (p.Gly252=) | |
| 18 | g.60371595C>A | CA402719151 | MC4R | c.755G>T (p.Gly252Val) | |
| 18 | g.60371595C= | CA2307359033 | MC4R | c.755G= (p.Gly252=) | |
| 18 | g.60371595C>G | CA402719150 | MC4R | c.755G>C (p.Gly252Ala) | |
| 18 | g.60371595C>T | CA8980844 | MC4R | c.755G>A (p.Gly252Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371596C>A | CA402719152 | MC4R | c.754G>T (p.Gly252Cys) | |
| 18 | g.60371596C= | CA2307359034 | MC4R | c.754G= (p.Gly252=) | |
| 18 | g.60371596C>G | CA402719153 | MC4R | c.754G>C (p.Gly252Arg) | |
| 18 | g.60371596C>T | CA8980845 | MC4R | c.754G>A (p.Gly252Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371597A>C | CA402719154 | MC4R | c.753T>G (p.Ile251Met) | |
| 18 | g.60371597A>G | CA504305245 | MC4R | c.753T>C (p.Ile251=) | |
| 18 | g.60371597A>T | CA504305246 | MC4R | c.753T>A (p.Ile251=) | |
| 18 | g.60371598A= | CA2307359036 | MC4R | c.752T= (p.Ile251=) | |
| 18 | g.60371598A>C | CA402719155 | MC4R | c.752T>G (p.Ile251Ser) | |
| 18 | g.60371598A>G | CA301530017 | MC4R | c.752T>C (p.Ile251Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371598A>T | CA402719156 | MC4R | c.752T>A (p.Ile251Asn) | |
| 18 | g.60371598_60371600delinsATC | CA2307359035 | MC4R | c.750_752delinsGAT (p.Leu250=) | |
| 18 | g.60371599T>A | CA402719157 | MC4R | c.751A>T (p.Ile251Phe) | |
| 18 | g.60371599T>C | CA402719158 | MC4R | c.751A>G (p.Ile251Val) | |
| 18 | g.60371599T>G | CA214823 | MC4R | c.751A>C (p.Ile251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371599T= | CA2307359037 | MC4R | c.751A= (p.Ile251=) | |
| 18 | g.60371599_60371600del | CA8980846 | MC4R | c.750_751del (p.Ile251TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371600C>A | CA504305255 | MC4R | c.750G>T (p.Leu250=) | COSMIC |
| 18 | g.60371600C>G | CA504305256 | MC4R | c.750G>C (p.Leu250=) | |
| 18 | g.60371600C>T | CA504305257 | MC4R | c.750G>A (p.Leu250=) | COSMIC |
| 18 | g.60371601A= | CA2307359038 | MC4R | c.749T= (p.Leu250=) | |
| 18 | g.60371601A>C | CA402719160 | MC4R | c.749T>G (p.Leu250Arg) | |
| 18 | g.60371601A>G | CA402719159 | MC4R | c.749T>C (p.Leu250Pro) | |
| 18 | g.60371601A>T | CA8980847 | MC4R | c.749T>A (p.Leu250Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371602G>A | CA504305261 | MC4R | c.748C>T (p.Leu250=) | |
| 18 | g.60371602G>C | CA402719161 | MC4R | c.748C>G (p.Leu250Val) | |
| 18 | g.60371602G>T | CA402719162 | MC4R | c.748C>A (p.Leu250Met) | |
| 18 | g.60371603G>A | CA8980848 | MC4R | c.747C>T (p.Ile249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371603G>C | CA402719163 | MC4R | c.747C>G (p.Ile249Met) | |
| 18 | g.60371603G= | CA2307359039 | MC4R | c.747C= (p.Ile249=) | |
| 18 | g.60371603G>T | CA504305265 | MC4R | c.747C>A (p.Ile249=) | |
| 18 | g.60371604A>C | CA402719164 | MC4R | c.746T>G (p.Ile249Ser) | |
| 18 | g.60371604A>G | CA402719165 | MC4R | c.746T>C (p.Ile249Thr) | |
| 18 | g.60371604A>T | CA402719166 | MC4R | c.746T>A (p.Ile249Asn) | |
| 18 | g.60371605T>A | CA402719167 | MC4R | c.745A>T (p.Ile249Phe) | |
| 18 | g.60371605T>C | CA402719168 | MC4R | c.745A>G (p.Ile249Val) | dbSNP |
| 18 | g.60371605T>G | CA402719169 | MC4R | c.745A>C (p.Ile249Leu) | |
| 18 | g.60371605T= | CA2307359040 | MC4R | c.745A= (p.Ile249=) | |
| 18 | g.60371606G>A | CA504305274 | MC4R | c.744C>T (p.Thr248=) | dbSNP |
| 18 | g.60371606G>C | CA504305276 | MC4R | c.744C>G (p.Thr248=) | |
| 18 | g.60371606G= | CA2307359041 | MC4R | c.744C= (p.Thr248=) | |
| 18 | g.60371606G>T | CA8980849 | MC4R | c.744C>A (p.Thr248=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371607G>A | CA402719172 | MC4R | c.743C>T (p.Thr248Ile) | |
| 18 | g.60371607G>C | CA402719171 | MC4R | c.743C>G (p.Thr248Ser) | |
| 18 | g.60371607G>T | CA402719170 | MC4R | c.743C>A (p.Thr248Asn) | |
| 18 | g.60371608T>A | CA402719173 | MC4R | c.742A>T (p.Thr248Ser) | gnomAD v4 |
| 18 | g.60371608T>C | CA402719174 | MC4R | c.742A>G (p.Thr248Ala) | dbSNP gnomAD v4 |
| 18 | g.60371608T>G | CA402719175 | MC4R | c.742A>C (p.Thr248Pro) | |
| 18 | g.60371608T= | CA2307359042 | MC4R | c.742A= (p.Thr248=) | |
| 18 | g.60371609C>A | CA402719176 | MC4R | c.741G>T (p.Leu247Phe) | |
| 18 | g.60371609C>G | CA402719177 | MC4R | c.741G>C (p.Leu247Phe) | |
| 18 | g.60371609C>T | CA504305282 | MC4R | c.741G>A (p.Leu247=) | |
| 18 | g.60371610A>C | CA402719178 | MC4R | c.740T>G (p.Leu247Trp) | |
| 18 | g.60371610A>G | CA402719179 | MC4R | c.740T>C (p.Leu247Ser) | |
| 18 | g.60371610A>T | CA402719180 | MC4R | c.740T>A (p.Leu247Ter) | |
| 18 | g.60371611A= | CA2307359043 | MC4R | c.739T= (p.Leu247=) | |
| 18 | g.60371611A>C | CA402719181 | MC4R | c.739T>G (p.Leu247Val) | |
| 18 | g.60371611A>G | CA504305284 | MC4R | c.739T>C (p.Leu247=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371611A>T | CA301530018 | MC4R | c.739T>A (p.Leu247Met) | dbSNP |
| 18 | g.60371612G>A | CA504305286 | MC4R | c.738C>T (p.Thr246=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371612G>C | CA504305288 | MC4R | c.738C>G (p.Thr246=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371612G= | CA2307359044 | MC4R | c.738C= (p.Thr246=) | |
| 18 | g.60371612G>T | CA504305289 | MC4R | c.738C>A (p.Thr246=) | |
| 18 | g.60371613G>A | CA402719182 | MC4R | c.737C>T (p.Thr246Ile) | |
| 18 | g.60371613G>C | CA402719183 | MC4R | c.737C>G (p.Thr246Ser) | |
| 18 | g.60371613G= | CA2307359045 | MC4R | c.737C= (p.Thr246=) | |
| 18 | g.60371613G>T | CA402719184 | MC4R | c.737C>A (p.Thr246Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371614T>A | CA402719187 | MC4R | c.736A>T (p.Thr246Ser) | |
| 18 | g.60371614T>C | CA402719186 | MC4R | c.736A>G (p.Thr246Ala) | |
| 18 | g.60371614T>G | CA402719185 | MC4R | c.736A>C (p.Thr246Pro) | |
| 18 | g.60371615A>C | CA402719188 | MC4R | c.735T>G (p.Ile245Met) | |
| 18 | g.60371615A>G | CA504305292 | MC4R | c.735T>C (p.Ile245=) | gnomAD v4 |
| 18 | g.60371615A>T | CA504305294 | MC4R | c.735T>A (p.Ile245=) | |
| 18 | g.60371615_60371618dup | CA2580095964 | MC4R | c.732_735dup (p.Thr246AspfsTer?) | ClinVar dbSNP |
| 18 | g.60371616A>C | CA402719189 | MC4R | c.734T>G (p.Ile245Ser) | |
| 18 | g.60371616A>G | CA402719190 | MC4R | c.734T>C (p.Ile245Thr) | |
| 18 | g.60371616A>T | CA402719191 | MC4R | c.734T>A (p.Ile245Asn) | |
| 18 | g.60371617T>A | CA402719192 | MC4R | c.733A>T (p.Ile245Phe) | |
| 18 | g.60371617T>C | CA402719193 | MC4R | c.733A>G (p.Ile245Val) | |
| 18 | g.60371617T>G | CA402719194 | MC4R | c.733A>C (p.Ile245Leu) | |
| 18 | g.60371618C>A | CA504305298 | MC4R | c.732G>T (p.Ala244=) | |
| 18 | g.60371618C= | CA2307359046 | MC4R | c.732G= (p.Ala244=) | |
| 18 | g.60371618C>G | CA504305300 | MC4R | c.732G>C (p.Ala244=) | |
| 18 | g.60371618C>T | CA8980850 | MC4R | c.732G>A (p.Ala244=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60371619G>A | CA8980853 | MC4R | c.731C>T (p.Ala244Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371619G>C | CA8980852 | MC4R | c.731C>G (p.Ala244Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371619G= | CA2307359047 | MC4R | c.731C= (p.Ala244=) | |
| 18 | g.60371619G>T | CA8980851 | MC4R | c.731C>A (p.Ala244Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371620C>A | CA402719195 | MC4R | c.730G>T (p.Ala244Ser) | |
| 18 | g.60371620C= | CA2307359048 | MC4R | c.730G= (p.Ala244=) | |
| 18 | g.60371620C>G | CA402719196 | MC4R | c.730G>C (p.Ala244Pro) | |
| 18 | g.60371620C>T | CA301530019 | MC4R | c.730G>A (p.Ala244Thr) | dbSNP |
| 18 | g.60371621T>A | CA504305302 | MC4R | c.729A>T (p.Gly243=) | |
| 18 | g.60371621T>C | CA504305303 | MC4R | c.729A>G (p.Gly243=) | gnomAD v4 |
| 18 | g.60371621T>G | CA504305304 | MC4R | c.729A>C (p.Gly243=) | |
| 18 | g.60371622C>A | CA402719198 | MC4R | c.728G>T (p.Gly243Val) | |
| 18 | g.60371622C>G | CA402719199 | MC4R | c.728G>C (p.Gly243Ala) | |
| 18 | g.60371622C>T | CA402719197 | MC4R | c.728G>A (p.Gly243Glu) | gnomAD v4 |
| 18 | g.60371623C>A | CA402719200 | MC4R | c.727G>T (p.Gly243Ter) | |
| 18 | g.60371623C= | CA2307359049 | MC4R | c.727G= (p.Gly243=) | |
| 18 | g.60371623C>G | CA402719201 | MC4R | c.727G>C (p.Gly243Arg) | dbSNP gnomAD v2 |
| 18 | g.60371623C>T | CA301530020 | MC4R | c.727G>A (p.Gly243Arg) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371624C>A | CA402719202 | MC4R | c.726G>T (p.Lys242Asn) | COSMIC |
| 18 | g.60371624C= | CA2307359050 | MC4R | c.726G= (p.Lys242=) | |
| 18 | g.60371624C>G | CA402719203 | MC4R | c.726G>C (p.Lys242Asn) | |
| 18 | g.60371624C>T | CA8980854 | MC4R | c.726G>A (p.Lys242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371625T>A | CA402719204 | MC4R | c.725A>T (p.Lys242Met) | gnomAD v4 |
| 18 | g.60371625T>C | CA402719205 | MC4R | c.725A>G (p.Lys242Arg) | |
| 18 | g.60371625T>G | CA402719206 | MC4R | c.725A>C (p.Lys242Thr) | |
| 18 | g.60371626T>A | CA402719207 | MC4R | c.724A>T (p.Lys242Ter) | |
| 18 | g.60371626T>C | CA402719208 | MC4R | c.724A>G (p.Lys242Glu) | |
| 18 | g.60371626T>G | CA402719209 | MC4R | c.724A>C (p.Lys242Gln) | |
| 18 | g.60371627C>A | CA402719212 | MC4R | c.723G>T (p.Met241Ile) | |
| 18 | g.60371627C>G | CA402719211 | MC4R | c.723G>C (p.Met241Ile) | |
| 18 | g.60371627C>T | CA402719210 | MC4R | c.723G>A (p.Met241Ile) | COSMIC |
| 18 | g.60371628A= | CA2307359051 | MC4R | c.722T= (p.Met241=) | |
| 18 | g.60371628A>C | CA402719213 | MC4R | c.722T>G (p.Met241Arg) | |
| 18 | g.60371628A>G | CA8980855 | MC4R | c.722T>C (p.Met241Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371628A>T | CA402719214 | MC4R | c.722T>A (p.Met241Lys) | |
| 18 | g.60371629T>A | CA402719215 | MC4R | c.721A>T (p.Met241Leu) | |
| 18 | g.60371629T>C | CA402719216 | MC4R | c.721A>G (p.Met241Val) | |
| 18 | g.60371629T>G | CA402719217 | MC4R | c.721A>C (p.Met241Leu) | |
| 18 | g.60371630A= | CA2307359052 | MC4R | c.720T= (p.Asn240=) | |
| 18 | g.60371630A>C | CA402719218 | MC4R | c.720T>G (p.Asn240Lys) | |
| 18 | g.60371630A>G | CA301530021 | MC4R | c.720T>C (p.Asn240=) | dbSNP |
| 18 | g.60371630A>T | CA402719219 | MC4R | c.720T>A (p.Asn240Lys) | COSMIC |
| 18 | g.60371631T>A | CA402719220 | MC4R | c.719A>T (p.Asn240Ile) | COSMIC |
| 18 | g.60371631T>C | CA8980856 | MC4R | c.719A>G (p.Asn240Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371631T>G | CA402719221 | MC4R | c.719A>C (p.Asn240Thr) | |
| 18 | g.60371631T= | CA2307359053 | MC4R | c.719A= (p.Asn240=) | |
| 18 | g.60371632T>A | CA402719222 | MC4R | c.718A>T (p.Asn240Tyr) | |
| 18 | g.60371632T>C | CA402719224 | MC4R | c.718A>G (p.Asn240Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371632T>G | CA402719223 | MC4R | c.718A>C (p.Asn240His) | |
| 18 | g.60371632T= | CA2307359054 | MC4R | c.718A= (p.Asn240=) | |
| 18 | g.60371633G>A | CA504305310 | MC4R | c.717C>T (p.Ala239=) | |
| 18 | g.60371633G>C | CA504305312 | MC4R | c.717C>G (p.Ala239=) | |
| 18 | g.60371633G>T | CA504305314 | MC4R | c.717C>A (p.Ala239=) | |
| 18 | g.60371634G>A | CA402719225 | MC4R | c.716C>T (p.Ala239Val) | |
| 18 | g.60371634G>C | CA402719226 | MC4R | c.716C>G (p.Ala239Gly) | |
| 18 | g.60371634G= | CA2307359055 | MC4R | c.716C= (p.Ala239=) | |
| 18 | g.60371634G>T | CA301530022 | MC4R | c.716C>A (p.Ala239Asp) | dbSNP gnomAD v2 gnomAD v4 |