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.60372021G>A | CA402720049 | MC4R | c.329C>T (p.Thr110Ile) | |
| 18 | g.60372021G>C | CA8980940 | MC4R | c.329C>G (p.Thr110Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372021G= | CA2307359248 | MC4R | c.329C= (p.Thr110=) | |
| 18 | g.60372021G>T | CA402720048 | MC4R | c.329C>A (p.Thr110Lys) | |
| 18 | g.60372022T>A | CA402720050 | MC4R | c.328A>T (p.Thr110Ser) | |
| 18 | g.60372022T>C | CA402720051 | MC4R | c.328A>G (p.Thr110Ala) | |
| 18 | g.60372022T>G | CA402720052 | MC4R | c.328A>C (p.Thr110Pro) | |
| 18 | g.60372023A= | CA2307359249 | MC4R | c.327T= (p.Ser109=) | |
| 18 | g.60372023A>C | CA402720053 | MC4R | c.327T>G (p.Ser109Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372023A>G | CA504305719 | MC4R | c.327T>C (p.Ser109=) | |
| 18 | g.60372023A>T | CA402720054 | MC4R | c.327T>A (p.Ser109Arg) | |
| 18 | g.60372024C>A | CA402720055 | MC4R | c.326G>T (p.Ser109Ile) | |
| 18 | g.60372024C= | CA2307359250 | MC4R | c.326G= (p.Ser109=) | |
| 18 | g.60372024C>G | CA402720057 | MC4R | c.326G>C (p.Ser109Thr) | |
| 18 | g.60372024C>T | CA402720056 | MC4R | c.326G>A (p.Ser109Asn) | dbSNP gnomAD v4 |
| 18 | g.60372025T>A | CA402720058 | MC4R | c.325A>T (p.Ser109Cys) | |
| 18 | g.60372025T>C | CA402720059 | MC4R | c.325A>G (p.Ser109Gly) | dbSNP gnomAD v4 |
| 18 | g.60372025T>G | CA402720060 | MC4R | c.325A>C (p.Ser109Arg) | |
| 18 | g.60372026G>A | CA504305721 | MC4R | c.324C>T (p.Asn108=) | |
| 18 | g.60372026G>C | CA402720061 | MC4R | c.324C>G (p.Asn108Lys) | |
| 18 | g.60372026G>T | CA402720062 | MC4R | c.324C>A (p.Asn108Lys) | |
| 18 | g.60372027T>A | CA402720063 | MC4R | c.323A>T (p.Asn108Ile) | |
| 18 | g.60372027T>C | CA402720064 | MC4R | c.323A>G (p.Asn108Ser) | |
| 18 | g.60372027T>G | CA402720065 | MC4R | c.323A>C (p.Asn108Thr) | |
| 18 | g.60372028T>A | CA402720066 | MC4R | c.322A>T (p.Asn108Tyr) | |
| 18 | g.60372028T>C | CA402720067 | MC4R | c.322A>G (p.Asn108Asp) | |
| 18 | g.60372028T>G | CA402720068 | MC4R | c.322A>C (p.Asn108His) | |
| 18 | g.60372029T>A | CA402720070 | MC4R | c.321A>T (p.Leu107Phe) | |
| 18 | g.60372029T>C | CA504305722 | MC4R | c.321A>G (p.Leu107=) | |
| 18 | g.60372029T>G | CA402720069 | MC4R | c.321A>C (p.Leu107Phe) | |
| 18 | g.60372030A>C | CA402720071 | MC4R | c.320T>G (p.Leu107Ter) | |
| 18 | g.60372030A>G | CA402720073 | MC4R | c.320T>C (p.Leu107Ser) | |
| 18 | g.60372030A>T | CA402720072 | MC4R | c.320T>A (p.Leu107Ter) | |
| 18 | g.60372031A>C | CA402720074 | MC4R | c.319T>G (p.Leu107Val) | |
| 18 | g.60372031A>G | CA504305726 | MC4R | c.319T>C (p.Leu107=) | |
| 18 | g.60372031A>T | CA402720075 | MC4R | c.319T>A (p.Leu107Ile) | |
| 18 | g.60372032T>A | CA504305727 | MC4R | c.318A>T (p.Leu106=) | |
| 18 | g.60372032T>C | CA301530046 | MC4R | c.318A>G (p.Leu106=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372032T>G | CA504305728 | MC4R | c.318A>C (p.Leu106=) | |
| 18 | g.60372032T= | CA2307359251 | MC4R | c.318A= (p.Leu106=) | |
| 18 | g.60372033A>C | CA402720076 | MC4R | c.317T>G (p.Leu106Arg) | |
| 18 | g.60372033A>G | CA402720077 | MC4R | c.317T>C (p.Leu106Pro) | |
| 18 | g.60372033A>T | CA402720078 | MC4R | c.317T>A (p.Leu106Gln) | |
| 18 | g.60372033_60372034delinsAG | CA2307359252 | MC4R | c.316_317delinsCT (p.Leu106=) | |
| 18 | g.60372034G>A | CA8980941 | MC4R | c.316C>T (p.Leu106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372034G>C | CA402720079 | MC4R | c.316C>G (p.Leu106Val) | |
| 18 | g.60372034G= | CA2307359254 | MC4R | c.316C= (p.Leu106=) | |
| 18 | g.60372034G>T | CA402720080 | MC4R | c.316C>A (p.Leu106Ile) | |
| 18 | g.60372036del | CA2307359253 | MC4R | c.316del (p.Leu106TyrfsTer2) | dbSNP |
| 18 | g.60372035G>A | CA301530047 | MC4R | c.315C>T (p.Thr105=) | dbSNP gnomAD v4 |
| 18 | g.60372035G>C | CA504305730 | MC4R | c.315C>G (p.Thr105=) | |
| 18 | g.60372035G= | CA2307359255 | MC4R | c.315C= (p.Thr105=) | |
| 18 | g.60372035G>T | CA504305729 | MC4R | c.315C>A (p.Thr105=) | |
| 18 | g.60372036G>A | CA402720081 | MC4R | c.314C>T (p.Thr105Ile) | dbSNP |
| 18 | g.60372036G>C | CA402720082 | MC4R | c.314C>G (p.Thr105Ser) | |
| 18 | g.60372036G= | CA2307359256 | MC4R | c.314C= (p.Thr105=) | |
| 18 | g.60372036G>T | CA402720083 | MC4R | c.314C>A (p.Thr105Asn) | |
| 18 | g.60372037T>A | CA402720086 | MC4R | c.313A>T (p.Thr105Ser) | |
| 18 | g.60372037T>C | CA402720085 | MC4R | c.313A>G (p.Thr105Ala) | |
| 18 | g.60372037T>G | CA402720084 | MC4R | c.313A>C (p.Thr105Pro) | |
| 18 | g.60372038G>A | CA504305731 | MC4R | c.312C>T (p.Ile104=) | |
| 18 | g.60372038G>C | CA402720087 | MC4R | c.312C>G (p.Ile104Met) | |
| 18 | g.60372038G>T | CA504305732 | MC4R | c.312C>A (p.Ile104=) | |
| 18 | g.60372039A>C | CA402720088 | MC4R | c.311T>G (p.Ile104Ser) | |
| 18 | g.60372039A>G | CA402720089 | MC4R | c.311T>C (p.Ile104Thr) | |
| 18 | g.60372039A>T | CA402720090 | MC4R | c.311T>A (p.Ile104Asn) | |
| 18 | g.60372040T>A | CA402720091 | MC4R | c.310A>T (p.Ile104Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372040T>C | CA402720092 | MC4R | c.310A>G (p.Ile104Val) | COSMIC |
| 18 | g.60372040T>G | CA402720093 | MC4R | c.310A>C (p.Ile104Leu) | gnomAD v4 |
| 18 | g.60372040T= | CA2307359257 | MC4R | c.310A= (p.Ile104=) | |
| 18 | g.60372041G>A | CA504305733 | MC4R | c.309C>T (p.Val103=) | |
| 18 | g.60372041G>C | CA504305735 | MC4R | c.309C>G (p.Val103=) | |
| 18 | g.60372041G= | CA2307359258 | MC4R | c.309C= (p.Val103=) | |
| 18 | g.60372041G>T | CA504305734 | MC4R | c.309C>A (p.Val103=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372042del | CA2695227737 | MC4R | c.308del (p.Val103AlafsTer5) | |
| 18 | g.60372042A>C | CA402720094 | MC4R | c.308T>G (p.Val103Gly) | |
| 18 | g.60372042A>G | CA402720095 | MC4R | c.308T>C (p.Val103Ala) | gnomAD v4 |
| 18 | g.60372042A>T | CA402720096 | MC4R | c.308T>A (p.Val103Asp) | |
| 18 | g.60372043C>A | CA402720097 | MC4R | c.307G>T (p.Val103Phe) | |
| 18 | g.60372043C= | CA2307359259 | MC4R | c.307G= (p.Val103=) | |
| 18 | g.60372043C>G | CA402720098 | MC4R | c.307G>C (p.Val103Leu) | |
| 18 | g.60372043C>T | CA214825 | MC4R | c.307G>A (p.Val103Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372044A>C | CA402720099 | MC4R | c.306T>G (p.Ile102Met) | |
| 18 | g.60372044A>G | CA504305737 | MC4R | c.306T>C (p.Ile102=) | gnomAD v4 |
| 18 | g.60372044A>T | CA504305739 | MC4R | c.306T>A (p.Ile102=) | |
| 18 | g.60372045A= | CA2307359260 | MC4R | c.305T= (p.Ile102=) | |
| 18 | g.60372045A>C | CA210715 | MC4R | c.305T>G (p.Ile102Ser) | ClinVar dbSNP |
| 18 | g.60372045A>G | CA8980942 | MC4R | c.305T>C (p.Ile102Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372045A>T | CA402720100 | MC4R | c.305T>A (p.Ile102Asn) | gnomAD v4 |
| 18 | g.60372046T>A | CA402720101 | MC4R | c.304A>T (p.Ile102Phe) | |
| 18 | g.60372046T>C | CA8980943 | MC4R | c.304A>G (p.Ile102Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372046T>G | CA402720102 | MC4R | c.304A>C (p.Ile102Leu) | |
| 18 | g.60372046T= | CA2307359261 | MC4R | c.304A= (p.Ile102=) | |
| 18 | g.60372047G>A | CA504305744 | MC4R | c.303C>T (p.Thr101=) | COSMIC |
| 18 | g.60372047G>C | CA504305745 | MC4R | c.303C>G (p.Thr101=) | |
| 18 | g.60372047G= | CA2307359262 | MC4R | c.303C= (p.Thr101=) | |
| 18 | g.60372047G>T | CA8980944 | MC4R | c.303C>A (p.Thr101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372048G>A | CA402720105 | MC4R | c.302C>T (p.Thr101Ile) | |
| 18 | g.60372048G>C | CA402720103 | MC4R | c.302C>G (p.Thr101Ser) | dbSNP |
| 18 | g.60372048G= | CA2307359263 | MC4R | c.302C= (p.Thr101=) | |
| 18 | g.60372048G>T | CA402720104 | MC4R | c.302C>A (p.Thr101Asn) | |
| 18 | g.60372049T>A | CA402720106 | MC4R | c.301A>T (p.Thr101Ser) | |
| 18 | g.60372049T>C | CA402720107 | MC4R | c.301A>G (p.Thr101Ala) | |
| 18 | g.60372049T>G | CA402720108 | MC4R | c.301A>C (p.Thr101Pro) | |
| 18 | g.60372050T>A | CA402720109 | MC4R | c.300A>T (p.Glu100Asp) | |
| 18 | g.60372050T>C | CA504305746 | MC4R | c.300A>G (p.Glu100=) | |
| 18 | g.60372050T>G | CA402720110 | MC4R | c.300A>C (p.Glu100Asp) | |
| 18 | g.60372051T>A | CA402720111 | MC4R | c.299A>T (p.Glu100Val) | |
| 18 | g.60372051T>C | CA402720113 | MC4R | c.299A>G (p.Glu100Gly) | |
| 18 | g.60372051T>G | CA402720112 | MC4R | c.299A>C (p.Glu100Ala) | |
| 18 | g.60372052C>A | CA402720114 | MC4R | c.298G>T (p.Glu100Ter) | |
| 18 | g.60372052C>G | CA402720115 | MC4R | c.298G>C (p.Glu100Gln) | |
| 18 | g.60372052C>T | CA402720116 | MC4R | c.298G>A (p.Glu100Lys) | |
| 18 | g.60372053T>A | CA504305751 | MC4R | c.297A>T (p.Ser99=) | |
| 18 | g.60372053T>C | CA504305752 | MC4R | c.297A>G (p.Ser99=) | ClinVar |
| 18 | g.60372053T>G | CA504305753 | MC4R | c.297A>C (p.Ser99=) | |
| 18 | g.60372054G>A | CA402720117 | MC4R | c.296C>T (p.Ser99Leu) | dbSNP |
| 18 | g.60372054G>C | CA402720118 | MC4R | c.296C>G (p.Ser99Ter) | |
| 18 | g.60372054G= | CA2307359264 | MC4R | c.296C= (p.Ser99=) | |
| 18 | g.60372054G>T | CA402720119 | MC4R | c.296C>A (p.Ser99Ter) | |
| 18 | g.60372055A>C | CA402720120 | MC4R | c.295T>G (p.Ser99Ala) | |
| 18 | g.60372055A>G | CA402720121 | MC4R | c.295T>C (p.Ser99Pro) | |
| 18 | g.60372055A>T | CA402720122 | MC4R | c.295T>A (p.Ser99Thr) | |
| 18 | g.60372056T>A | CA504305185 | MC4R | c.294A>T (p.Gly98=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372056T>C | CA504305183 | MC4R | c.294A>G (p.Gly98=) | |
| 18 | g.60372056T>G | CA504305184 | MC4R | c.294A>C (p.Gly98=) | |
| 18 | g.60372056T= | CA2307359265 | MC4R | c.294A= (p.Gly98=) | |
| 18 | g.60372057C>A | CA402720123 | MC4R | c.293G>T (p.Gly98Val) | |
| 18 | g.60372057C= | CA2307359266 | MC4R | c.293G= (p.Gly98=) | |
| 18 | g.60372057C>G | CA402720124 | MC4R | c.293G>C (p.Gly98Ala) | |
| 18 | g.60372057C>T | CA402720125 | MC4R | c.293G>A (p.Gly98Glu) | dbSNP gnomAD v4 |
| 18 | g.60372058C>A | CA402720126 | MC4R | c.292G>T (p.Gly98Ter) | |
| 18 | g.60372058C= | CA2307359267 | MC4R | c.292G= (p.Gly98=) | |
| 18 | g.60372058C>G | CA402720127 | MC4R | c.292G>C (p.Gly98Arg) | |
| 18 | g.60372058C>T | CA8980945 | MC4R | c.292G>A (p.Gly98Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372059A= | CA2307359268 | MC4R | c.291T= (p.Asn97=) | |
| 18 | g.60372059A>C | CA402720128 | MC4R | c.291T>G (p.Asn97Lys) | |
| 18 | g.60372059A>G | CA8980946 | MC4R | c.291T>C (p.Asn97=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372059A>T | CA402720129 | MC4R | c.291T>A (p.Asn97Lys) | gnomAD v4 |
| 18 | g.60372059_60372060delinsAT | CA2307359269 | MC4R | c.290_291delinsAT (p.Asn97=) | |
| 18 | g.60372060T>A | CA402720130 | MC4R | c.290A>T (p.Asn97Ile) | |
| 18 | g.60372060T>C | CA402720131 | MC4R | c.290A>G (p.Asn97Ser) | COSMIC |
| 18 | g.60372060T>G | CA402720132 | MC4R | c.290A>C (p.Asn97Thr) | |
| 18 | g.60372062del | CA2307359270 | MC4R | c.290del (p.Asn97MetfsTer11) | dbSNP |
| 18 | g.60372061T>A | CA402720133 | MC4R | c.289A>T (p.Asn97Tyr) | |
| 18 | g.60372061T>C | CA210723 | MC4R | c.289A>G (p.Asn97Asp) | ClinVar dbSNP |
| 18 | g.60372061T>G | CA402720134 | MC4R | c.289A>C (p.Asn97His) | |
| 18 | g.60372061T= | CA2307359271 | MC4R | c.289A= (p.Asn97=) | |
| 18 | g.60372062T>A | CA504305195 | MC4R | c.288A>T (p.Ser96=) | |
| 18 | g.60372062T>C | CA8980947 | MC4R | c.288A>G (p.Ser96=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372062T>G | CA504305196 | MC4R | c.288A>C (p.Ser96=) | |
| 18 | g.60372062T= | CA2307359272 | MC4R | c.288A= (p.Ser96=) | |
| 18 | g.60372063G>A | CA402720137 | MC4R | c.287C>T (p.Ser96Leu) | |
| 18 | g.60372063G>C | CA402720135 | MC4R | c.287C>G (p.Ser96Ter) | |
| 18 | g.60372063G>T | CA402720136 | MC4R | c.287C>A (p.Ser96Ter) | |
| 18 | g.60372064A>C | CA402720138 | MC4R | c.286T>G (p.Ser96Ala) | |
| 18 | g.60372064A>G | CA402720139 | MC4R | c.286T>C (p.Ser96Pro) | |
| 18 | g.60372064A>T | CA402720140 | MC4R | c.286T>A (p.Ser96Thr) | gnomAD v4 |
| 18 | g.60372065A>C | CA504305202 | MC4R | c.285T>G (p.Val95=) | |
| 18 | g.60372065A>G | CA504305203 | MC4R | c.285T>C (p.Val95=) | |
| 18 | g.60372065A>T | CA504305204 | MC4R | c.285T>A (p.Val95=) | |
| 18 | g.60372066A= | CA2307359273 | MC4R | c.284T= (p.Val95=) | |
| 18 | g.60372066A>C | CA402720141 | MC4R | c.284T>G (p.Val95Gly) | dbSNP |
| 18 | g.60372066A>G | CA402720142 | MC4R | c.284T>C (p.Val95Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372066A>T | CA402720143 | MC4R | c.284T>A (p.Val95Asp) | |
| 18 | g.60372067C>A | CA8980949 | MC4R | c.283G>T (p.Val95Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372067C= | CA2307359274 | MC4R | c.283G= (p.Val95=) | |
| 18 | g.60372067C>G | CA402720144 | MC4R | c.283G>C (p.Val95Leu) | |
| 18 | g.60372067C>T | CA8980948 | MC4R | c.283G>A (p.Val95Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60372068G>A | CA8980950 | MC4R | c.282C>T (p.Ser94=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372068G>C | CA301530048 | MC4R | c.282C>G (p.Ser94Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372068G= | CA2307359275 | MC4R | c.282C= (p.Ser94=) | |
| 18 | g.60372068G>T | CA8980951 | MC4R | c.282C>A (p.Ser94Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372069C>A | CA402720145 | MC4R | c.281G>T (p.Ser94Ile) | |
| 18 | g.60372069C= | CA2307359276 | MC4R | c.281G= (p.Ser94=) | |
| 18 | g.60372069C>G | CA402720146 | MC4R | c.281G>C (p.Ser94Thr) | |
| 18 | g.60372069C>T | CA8980952 | MC4R | c.281G>A (p.Ser94Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372070T>A | CA402720147 | MC4R | c.280A>T (p.Ser94Cys) | |
| 18 | g.60372070T>C | CA402720148 | MC4R | c.280A>G (p.Ser94Gly) | COSMIC |
| 18 | g.60372070T>G | CA402720149 | MC4R | c.280A>C (p.Ser94Arg) | |
| 18 | g.60372070_60372085delinsTCACCAGCATATCAGC | CA2307359277 | MC4R | c.265_280delinsGCTGATATGCTGGTGA (p.Ala89=) | |
| 18 | g.60372071C>A | CA504305219 | MC4R | c.279G>T (p.Val93=) | |
| 18 | g.60372071C= | CA2307359278 | MC4R | c.279G= (p.Val93=) | |
| 18 | g.60372071C>G | CA504305220 | MC4R | c.279G>C (p.Val93=) | |
| 18 | g.60372071C>T | CA504305218 | MC4R | c.279G>A (p.Val93=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372074_60372088del | CA8980953 | MC4R | c.265_279del (p.Ala89_Val93del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372072A= | CA2307359279 | MC4R | c.278T= (p.Val93=) | |
| 18 | g.60372072A>C | CA402720150 | MC4R | c.278T>G (p.Val93Gly) | dbSNP |
| 18 | g.60372072A>G | CA402720151 | MC4R | c.278T>C (p.Val93Ala) | |
| 18 | g.60372072A>T | CA402720152 | MC4R | c.278T>A (p.Val93Glu) | |
| 18 | g.60372073C>A | CA402720153 | MC4R | c.277G>T (p.Val93Leu) | |
| 18 | g.60372073C>G | CA402720155 | MC4R | c.277G>C (p.Val93Leu) | |
| 18 | g.60372073C>T | CA402720154 | MC4R | c.277G>A (p.Val93Met) | gnomAD v4 |
| 18 | g.60372074C>A | CA504305229 | MC4R | c.276G>T (p.Leu92=) | |
| 18 | g.60372074C= | CA2307359280 | MC4R | c.276G= (p.Leu92=) | |
| 18 | g.60372074C>G | CA504305230 | MC4R | c.276G>C (p.Leu92=) | |
| 18 | g.60372074C>T | CA504305231 | MC4R | c.276G>A (p.Leu92=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372075A>C | CA402720156 | MC4R | c.275T>G (p.Leu92Arg) | |
| 18 | g.60372075A>G | CA402720158 | MC4R | c.275T>C (p.Leu92Pro) | |
| 18 | g.60372075A>T | CA402720157 | MC4R | c.275T>A (p.Leu92Gln) | |
| 18 | g.60372076G>A | CA8980954 | MC4R | c.274C>T (p.Leu92=) | dbSNP ExAC gnomAD v2 |
| 18 | g.60372076G>C | CA402720159 | MC4R | c.274C>G (p.Leu92Val) | gnomAD v4 |
| 18 | g.60372076G= | CA2307359281 | MC4R | c.274C= (p.Leu92=) | |
| 18 | g.60372076G>T | CA402720160 | MC4R | c.274C>A (p.Leu92Met) | |
| 18 | g.60372077C>A | CA402720161 | MC4R | c.273G>T (p.Met91Ile) | |
| 18 | g.60372077C= | CA2307359282 | MC4R | c.273G= (p.Met91=) | |
| 18 | g.60372077C>G | CA402720162 | MC4R | c.273G>C (p.Met91Ile) | |
| 18 | g.60372077C>T | CA402720163 | MC4R | c.273G>A (p.Met91Ile) | dbSNP |
| 18 | g.60372078A= | CA2307359283 | MC4R | c.272T= (p.Met91=) | |
| 18 | g.60372078A>C | CA402720164 | MC4R | c.272T>G (p.Met91Arg) | ClinVar |
| 18 | g.60372078A>G | CA402720165 | MC4R | c.272T>C (p.Met91Thr) | dbSNP |
| 18 | g.60372078A>T | CA301530049 | MC4R | c.272T>A (p.Met91Lys) | dbSNP |
| 18 | g.60372079T>A | CA402720166 | MC4R | c.271A>T (p.Met91Leu) | |
| 18 | g.60372079T>C | CA402720167 | MC4R | c.271A>G (p.Met91Val) | gnomAD v4 |
| 18 | g.60372079T>G | CA402720168 | MC4R | c.271A>C (p.Met91Leu) | |
| 18 | g.60372080A>C | CA402720169 | MC4R | c.270T>G (p.Asp90Glu) | |
| 18 | g.60372080A>G | CA504305244 | MC4R | c.270T>C (p.Asp90=) | |
| 18 | g.60372080A>T | CA402720170 | MC4R | c.270T>A (p.Asp90Glu) | |
| 18 | g.60372081T>A | CA402720171 | MC4R | c.269A>T (p.Asp90Val) | |
| 18 | g.60372081T>C | CA402720172 | MC4R | c.269A>G (p.Asp90Gly) | dbSNP |
| 18 | g.60372081T>G | CA402720173 | MC4R | c.269A>C (p.Asp90Ala) | |
| 18 | g.60372081T= | CA2307359284 | MC4R | c.269A= (p.Asp90=) | |
| 18 | g.60372082C>A | CA402720174 | MC4R | c.268G>T (p.Asp90Tyr) | |
| 18 | g.60372082C>G | CA402720175 | MC4R | c.268G>C (p.Asp90His) | |
| 18 | g.60372082C>T | CA402720176 | MC4R | c.268G>A (p.Asp90Asn) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60372083A>C | CA504305253 | MC4R | c.267T>G (p.Ala89=) | |
| 18 | g.60372083A>G | CA504305260 | MC4R | c.267T>C (p.Ala89=) | |
| 18 | g.60372083A>T | CA504305254 | MC4R | c.267T>A (p.Ala89=) | |
| 18 | g.60372084G>A | CA402720177 | MC4R | c.266C>T (p.Ala89Val) | |
| 18 | g.60372084G>C | CA301530050 | MC4R | c.266C>G (p.Ala89Gly) | dbSNP |
| 18 | g.60372084G= | CA2307359285 | MC4R | c.266C= (p.Ala89=) | |
| 18 | g.60372084G>T | CA402720178 | MC4R | c.266C>A (p.Ala89Asp) | |
| 18 | g.60372085C>A | CA402720179 | MC4R | c.265G>T (p.Ala89Ser) | gnomAD v4 |
| 18 | g.60372085C>G | CA402720180 | MC4R | c.265G>C (p.Ala89Pro) | |
| 18 | g.60372085C>T | CA402720181 | MC4R | c.265G>A (p.Ala89Thr) | |
| 18 | g.60372086C>A | CA504305266 | MC4R | c.264G>T (p.Val88=) | |
| 18 | g.60372086C>G | CA504305268 | MC4R | c.264G>C (p.Val88=) | |
| 18 | g.60372086C>T | CA504305272 | MC4R | c.264G>A (p.Val88=) | |
| 18 | g.60372087A= | CA2307359286 | MC4R | c.263T= (p.Val88=) | |
| 18 | g.60372087A>C | CA402720182 | MC4R | c.263T>G (p.Val88Gly) | |
| 18 | g.60372087A>G | CA402720184 | MC4R | c.263T>C (p.Val88Ala) | dbSNP |
| 18 | g.60372087A>T | CA402720183 | MC4R | c.263T>A (p.Val88Glu) | |
| 18 | g.60372088C>A | CA402720185 | MC4R | c.262G>T (p.Val88Leu) | |
| 18 | g.60372088C>G | CA402720187 | MC4R | c.262G>C (p.Val88Leu) | |
| 18 | g.60372088C>T | CA402720186 | MC4R | c.262G>A (p.Val88Met) | |
| 18 | g.60372089A>C | CA504305277 | MC4R | c.261T>G (p.Ala87=) | |
| 18 | g.60372089A>G | CA504305278 | MC4R | c.261T>C (p.Ala87=) | |
| 18 | g.60372089A>T | CA504305279 | MC4R | c.261T>A (p.Ala87=) | |
| 18 | g.60372090G>A | CA402720188 | MC4R | c.260C>T (p.Ala87Val) | |
| 18 | g.60372090G>C | CA402720189 | MC4R | c.260C>G (p.Ala87Gly) | |
| 18 | g.60372090G>T | CA402720190 | MC4R | c.260C>A (p.Ala87Asp) | |
| 18 | g.60372091C>A | CA402720191 | MC4R | c.259G>T (p.Ala87Ser) | |
| 18 | g.60372091C= | CA2307359287 | MC4R | c.259G= (p.Ala87=) | |
| 18 | g.60372091C>G | CA402720192 | MC4R | c.259G>C (p.Ala87Pro) | COSMIC |
| 18 | g.60372091C>T | CA402720193 | MC4R | c.259G>A (p.Ala87Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372092C>A | CA402720194 | MC4R | c.258G>T (p.Leu86Phe) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60372092C>G | CA402720195 | MC4R | c.258G>C (p.Leu86Phe) | |
| 18 | g.60372092C>T | CA504305281 | MC4R | c.258G>A (p.Leu86=) | |
| 18 | g.60372093A>C | CA402720196 | MC4R | c.257T>G (p.Leu86Trp) | |
| 18 | g.60372093A>G | CA402720197 | MC4R | c.257T>C (p.Leu86Ser) | |
| 18 | g.60372093A>T | CA402720198 | MC4R | c.257T>A (p.Leu86Ter) | gnomAD v4 |
| 18 | g.60372094A= | CA2307359288 | MC4R | c.256T= (p.Leu86=) | |
| 18 | g.60372094A>C | CA402720199 | MC4R | c.256T>G (p.Leu86Val) | |
| 18 | g.60372094A>G | CA504305283 | MC4R | c.256T>C (p.Leu86=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372094A>T | CA402720200 | MC4R | c.256T>A (p.Leu86Met) | |
| 18 | g.60372095G>A | CA504305285 | MC4R | c.255C>T (p.Ser85=) | dbSNP |
| 18 | g.60372095G>C | CA402720201 | MC4R | c.255C>G (p.Ser85Arg) | |
| 18 | g.60372095G= | CA2307359289 | MC4R | c.255C= (p.Ser85=) | |
| 18 | g.60372095G>T | CA402720202 | MC4R | c.255C>A (p.Ser85Arg) | COSMIC |
| 18 | g.60372096C>A | CA402720203 | MC4R | c.254G>T (p.Ser85Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372096C= | CA2307359290 | MC4R | c.254G= (p.Ser85=) | |
| 18 | g.60372096C>G | CA402720204 | MC4R | c.254G>C (p.Ser85Thr) | |
| 18 | g.60372096C>T | CA402720205 | MC4R | c.254G>A (p.Ser85Asn) | |
| 18 | g.60372097T>A | CA402720206 | MC4R | c.253A>T (p.Ser85Cys) | |
| 18 | g.60372097T>C | CA402720207 | MC4R | c.253A>G (p.Ser85Gly) | |
| 18 | g.60372097T>G | CA402720208 | MC4R | c.253A>C (p.Ser85Arg) | |
| 18 | g.60372098G>A | CA504305293 | MC4R | c.252C>T (p.Cys84=) | dbSNP |
| 18 | g.60372098G>C | CA402720209 | MC4R | c.252C>G (p.Cys84Trp) | |
| 18 | g.60372098G= | CA2307359291 | MC4R | c.252C= (p.Cys84=) | |
| 18 | g.60372098G>T | CA402720210 | MC4R | c.252C>A (p.Cys84Ter) | gnomAD v4 |
| 18 | g.60372099C>A | CA402720211 | MC4R | c.251G>T (p.Cys84Phe) | |
| 18 | g.60372099C>G | CA402720212 | MC4R | c.251G>C (p.Cys84Ser) | gnomAD v4 |
| 18 | g.60372099C>T | CA402720213 | MC4R | c.251G>A (p.Cys84Tyr) | |
| 18 | g.60372100A>C | CA402720216 | MC4R | c.250T>G (p.Cys84Gly) | gnomAD v4 |
| 18 | g.60372100A>G | CA402720215 | MC4R | c.250T>C (p.Cys84Arg) | gnomAD v4 |
| 18 | g.60372100A>T | CA402720214 | MC4R | c.250T>A (p.Cys84Ser) | |
| 18 | g.60372101G>A | CA504305299 | MC4R | c.249C>T (p.Ile83=) | |
| 18 | g.60372101G>C | CA402720217 | MC4R | c.249C>G (p.Ile83Met) | |
| 18 | g.60372101G>T | CA504305301 | MC4R | c.249C>A (p.Ile83=) | |
| 18 | g.60372102A>C | CA402720218 | MC4R | c.248T>G (p.Ile83Ser) | |
| 18 | g.60372102A>G | CA402720219 | MC4R | c.248T>C (p.Ile83Thr) | |
| 18 | g.60372102A>T | CA402720220 | MC4R | c.248T>A (p.Ile83Asn) | |
| 18 | g.60372103T>A | CA402720221 | MC4R | c.247A>T (p.Ile83Phe) | |
| 18 | g.60372103T>C | CA402720222 | MC4R | c.247A>G (p.Ile83Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372103T>G | CA402720223 | MC4R | c.247A>C (p.Ile83Leu) | |
| 18 | g.60372103T= | CA2307359292 | MC4R | c.247A= (p.Ile83=) | |
| 18 | g.60372104G>A | CA504305305 | MC4R | c.246C>T (p.Phe82=) | |
| 18 | g.60372104G>C | CA402720224 | MC4R | c.246C>G (p.Phe82Leu) | |
| 18 | g.60372104G>T | CA402720225 | MC4R | c.246C>A (p.Phe82Leu) | |
| 18 | g.60372105A>C | CA402720226 | MC4R | c.245T>G (p.Phe82Cys) | |
| 18 | g.60372105A>G | CA402720227 | MC4R | c.245T>C (p.Phe82Ser) | |
| 18 | g.60372105A>T | CA402720228 | MC4R | c.245T>A (p.Phe82Tyr) | |
| 18 | g.60372106A= | CA2307359293 | MC4R | c.244T= (p.Phe82=) | |
| 18 | g.60372106A>C | CA402720230 | MC4R | c.244T>G (p.Phe82Val) | |
| 18 | g.60372106A>G | CA8980955 | MC4R | c.244T>C (p.Phe82Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372106A>T | CA402720229 | MC4R | c.244T>A (p.Phe82Ile) | |
| 18 | g.60372107A= | CA2307359294 | MC4R | c.243T= (p.Phe81=) | |
| 18 | g.60372107A>C | CA402720231 | MC4R | c.243T>G (p.Phe81Leu) | |
| 18 | g.60372107A>G | CA504305307 | MC4R | c.243T>C (p.Phe81=) | dbSNP |
| 18 | g.60372107A>T | CA402720232 | MC4R | c.243T>A (p.Phe81Leu) | |
| 18 | g.60372108A>C | CA402720233 | MC4R | c.242T>G (p.Phe81Cys) | |
| 18 | g.60372108A>G | CA402720234 | MC4R | c.242T>C (p.Phe81Ser) | |
| 18 | g.60372108A>T | CA402720235 | MC4R | c.242T>A (p.Phe81Tyr) | |
| 18 | g.60372109A>C | CA402720238 | MC4R | c.241T>G (p.Phe81Val) | gnomAD v4 |
| 18 | g.60372109A>G | CA402720236 | MC4R | c.241T>C (p.Phe81Leu) | |
| 18 | g.60372109A>T | CA402720237 | MC4R | c.241T>A (p.Phe81Ile) | |
| 18 | g.60372110G>A | CA504305309 | MC4R | c.240C>T (p.Tyr80=) | |
| 18 | g.60372110G>C | CA402720239 | MC4R | c.240C>G (p.Tyr80Ter) | |
| 18 | g.60372110G= | CA2307359295 | MC4R | c.240C= (p.Tyr80=) | |
| 18 | g.60372110G>T | CA301530051 | MC4R | c.240C>A (p.Tyr80Ter) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60372111T>A | CA402720240 | MC4R | c.239A>T (p.Tyr80Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372111T>C | CA402720241 | MC4R | c.239A>G (p.Tyr80Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372111T>G | CA402720242 | MC4R | c.239A>C (p.Tyr80Ser) | |
| 18 | g.60372111T= | CA2307359296 | MC4R | c.239A= (p.Tyr80=) | |
| 18 | g.60372112A= | CA2307359297 | MC4R | c.238T= (p.Tyr80=) | |
| 18 | g.60372112A>C | CA402720243 | MC4R | c.238T>G (p.Tyr80Asp) | |
| 18 | g.60372112A>G | CA8980956 | MC4R | c.238T>C (p.Tyr80His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60372112A>T | CA402720244 | MC4R | c.238T>A (p.Tyr80Asn) | dbSNP gnomAD v4 |
| 18 | g.60372113C>A | CA402720245 | MC4R | c.237G>T (p.Met79Ile) | |
| 18 | g.60372113C= | CA2307359298 | MC4R | c.237G= (p.Met79=) | |
| 18 | g.60372113C>G | CA402720246 | MC4R | c.237G>C (p.Met79Ile) | |
| 18 | g.60372113C>T | CA8980957 | MC4R | c.237G>A (p.Met79Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372114A>C | CA402720247 | MC4R | c.236T>G (p.Met79Arg) | |
| 18 | g.60372114A>G | CA402720249 | MC4R | c.236T>C (p.Met79Thr) | |
| 18 | g.60372114A>T | CA402720248 | MC4R | c.236T>A (p.Met79Lys) | |
| 18 | g.60372115T>A | CA402720250 | MC4R | c.235A>T (p.Met79Leu) | |
| 18 | g.60372115T>C | CA402720251 | MC4R | c.235A>G (p.Met79Val) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60372115T>G | CA402720252 | MC4R | c.235A>C (p.Met79Leu) | |
| 18 | g.60372116G>A | CA504305316 | MC4R | c.234C>T (p.Pro78=) | |
| 18 | g.60372116G>C | CA504305318 | MC4R | c.234C>G (p.Pro78=) | |
| 18 | g.60372116G>T | CA504305320 | MC4R | c.234C>A (p.Pro78=) | |
| 18 | g.60372117G>A | CA301530052 | MC4R | c.233C>T (p.Pro78Leu) | ClinVar dbSNP |
| 18 | g.60372117G>C | CA402720253 | MC4R | c.233C>G (p.Pro78Arg) | |
| 18 | g.60372117G= | CA2307359299 | MC4R | c.233C= (p.Pro78=) | |
| 18 | g.60372117G>T | CA402720254 | MC4R | c.233C>A (p.Pro78His) | |
| 18 | g.60372118G>A | CA402720255 | MC4R | c.232C>T (p.Pro78Ser) | |
| 18 | g.60372118G>C | CA402720256 | MC4R | c.232C>G (p.Pro78Ala) | |
| 18 | g.60372118G>T | CA402720257 | MC4R | c.232C>A (p.Pro78Thr) | |
| 18 | g.60372119T>A | CA504305326 | MC4R | c.231A>T (p.Ser77=) | |
| 18 | g.60372119T>C | CA504305329 | MC4R | c.231A>G (p.Ser77=) | |
| 18 | g.60372119T>G | CA504305330 | MC4R | c.231A>C (p.Ser77=) | |
| 18 | g.60372120G>A | CA402720260 | MC4R | c.230C>T (p.Ser77Leu) | dbSNP gnomAD v4 |
| 18 | g.60372120G>C | CA402720259 | MC4R | c.230C>G (p.Ser77Ter) | |
| 18 | g.60372120G= | CA2307359300 | MC4R | c.230C= (p.Ser77=) | |
| 18 | g.60372120G>T | CA402720258 | MC4R | c.230C>A (p.Ser77Ter) | COSMIC |
| 18 | g.60372121A>C | CA402720261 | MC4R | c.229T>G (p.Ser77Ala) | |
| 18 | g.60372121A>G | CA402720262 | MC4R | c.229T>C (p.Ser77Pro) | |
| 18 | g.60372121A>T | CA402720263 | MC4R | c.229T>A (p.Ser77Thr) |