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.60371408_60371435del | CA2642029294 | MC4R | c.918_945del (p.Ser306ArgfsTer?) | gnomAD v4 |
| 18 | g.60371429T>A | CA402718795 | MC4R | c.921A>T (p.Gln307His) | |
| 18 | g.60371429T>C | CA504305066 | MC4R | c.921A>G (p.Gln307=) | |
| 18 | g.60371429T>G | CA402718796 | MC4R | c.921A>C (p.Gln307His) | |
| 18 | g.60371430T>A | CA402718797 | MC4R | c.920A>T (p.Gln307Leu) | |
| 18 | g.60371430T>C | CA402718799 | MC4R | c.920A>G (p.Gln307Arg) | |
| 18 | g.60371430T>G | CA402718798 | MC4R | c.920A>C (p.Gln307Pro) | |
| 18 | g.60371431G>A | CA8980807 | MC4R | c.919C>T (p.Gln307Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371431G>C | CA402718800 | MC4R | c.919C>G (p.Gln307Glu) | |
| 18 | g.60371431G= | CA2307358951 | MC4R | c.919C= (p.Gln307=) | |
| 18 | g.60371431G>T | CA402718801 | MC4R | c.919C>A (p.Gln307Lys) | |
| 18 | g.60371432A>C | CA402718802 | MC4R | c.918T>G (p.Ser306Arg) | |
| 18 | g.60371432A>G | CA504305070 | MC4R | c.918T>C (p.Ser306=) | |
| 18 | g.60371432A>T | CA402718803 | MC4R | c.918T>A (p.Ser306Arg) | |
| 18 | g.60371433C>A | CA402718804 | MC4R | c.917G>T (p.Ser306Ile) | |
| 18 | g.60371433C= | CA2307358952 | MC4R | c.917G= (p.Ser306=) | |
| 18 | g.60371433C>G | CA402718805 | MC4R | c.917G>C (p.Ser306Thr) | |
| 18 | g.60371433C>T | CA301530008 | MC4R | c.917G>A (p.Ser306Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371434T>A | CA402718806 | MC4R | c.916A>T (p.Ser306Cys) | |
| 18 | g.60371434T>C | CA402718807 | MC4R | c.916A>G (p.Ser306Gly) | |
| 18 | g.60371434T>G | CA402718808 | MC4R | c.916A>C (p.Ser306Arg) | |
| 18 | g.60371435C>A | CA504305073 | MC4R | c.915G>T (p.Arg305=) | |
| 18 | g.60371435C= | CA2307358953 | MC4R | c.915G= (p.Arg305=) | |
| 18 | g.60371435C>G | CA504305074 | MC4R | c.915G>C (p.Arg305=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371435C>T | CA8980808 | MC4R | c.915G>A (p.Arg305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371436C>A | CA8980810 | MC4R | c.914G>T (p.Arg305Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371436C= | CA2307358954 | MC4R | c.914G= (p.Arg305=) | |
| 18 | g.60371436C>G | CA402718809 | MC4R | c.914G>C (p.Arg305Pro) | |
| 18 | g.60371436C>T | CA8980809 | MC4R | c.914G>A (p.Arg305Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371437G>A | CA8980811 | MC4R | c.913C>T (p.Arg305Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371437G>C | CA402718810 | MC4R | c.913C>G (p.Arg305Gly) | |
| 18 | g.60371437G= | CA2307358955 | MC4R | c.913C= (p.Arg305=) | |
| 18 | g.60371437G>T | CA504305075 | MC4R | c.913C>A (p.Arg305=) | |
| 18 | g.60371438G>A | CA504305077 | MC4R | c.912C>T (p.Leu304=) | gnomAD v4 |
| 18 | g.60371438G>C | CA504305079 | MC4R | c.912C>G (p.Leu304=) | |
| 18 | g.60371438G>T | CA504305081 | MC4R | c.912C>A (p.Leu304=) | |
| 18 | g.60371439A>C | CA402718811 | MC4R | c.911T>G (p.Leu304Arg) | |
| 18 | g.60371439A>G | CA402718812 | MC4R | c.911T>C (p.Leu304Pro) | |
| 18 | g.60371439A>T | CA402718813 | MC4R | c.911T>A (p.Leu304His) | |
| 18 | g.60371440G>A | CA8980812 | MC4R | c.910C>T (p.Leu304Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371440G>C | CA402718814 | MC4R | c.910C>G (p.Leu304Val) | |
| 18 | g.60371440G= | CA2307358956 | MC4R | c.910C= (p.Leu304=) | |
| 18 | g.60371440G>T | CA402718815 | MC4R | c.910C>A (p.Leu304Ile) | |
| 18 | g.60371441T>A | CA504305085 | MC4R | c.909A>T (p.Ala303=) | |
| 18 | g.60371441T>C | CA504305086 | MC4R | c.909A>G (p.Ala303=) | gnomAD v4 COSMIC |
| 18 | g.60371441T>G | CA504305087 | MC4R | c.909A>C (p.Ala303=) | gnomAD v4 |
| 18 | g.60371442G>A | CA402718816 | MC4R | c.908C>T (p.Ala303Val) | |
| 18 | g.60371442G>C | CA402718817 | MC4R | c.908C>G (p.Ala303Gly) | |
| 18 | g.60371442G>T | CA402718818 | MC4R | c.908C>A (p.Ala303Glu) | |
| 18 | g.60371443C>A | CA402718819 | MC4R | c.907G>T (p.Ala303Ser) | |
| 18 | g.60371443C= | CA2307358957 | MC4R | c.907G= (p.Ala303=) | |
| 18 | g.60371443C>G | CA402718820 | MC4R | c.907G>C (p.Ala303Pro) | dbSNP |
| 18 | g.60371443C>T | CA8980813 | MC4R | c.907G>A (p.Ala303Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371444A= | CA2307358958 | MC4R | c.906T= (p.Tyr302=) | |
| 18 | g.60371444A>C | CA8980814 | MC4R | c.906T>G (p.Tyr302Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371444A>G | CA504305088 | MC4R | c.906T>C (p.Tyr302=) | gnomAD v4 |
| 18 | g.60371444A>T | CA402718821 | MC4R | c.906T>A (p.Tyr302Ter) | |
| 18 | g.60371445T>A | CA402718822 | MC4R | c.905A>T (p.Tyr302Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371445T>C | CA402718824 | MC4R | c.905A>G (p.Tyr302Cys) | gnomAD v4 |
| 18 | g.60371445T>G | CA402718823 | MC4R | c.905A>C (p.Tyr302Ser) | |
| 18 | g.60371445T= | CA2307358959 | MC4R | c.905A= (p.Tyr302=) | |
| 18 | g.60371446A>C | CA402718825 | MC4R | c.904T>G (p.Tyr302Asp) | |
| 18 | g.60371446A>G | CA402718826 | MC4R | c.904T>C (p.Tyr302His) | |
| 18 | g.60371446A>T | CA402718827 | MC4R | c.904T>A (p.Tyr302Asn) | |
| 18 | g.60371447A>C | CA402718828 | MC4R | c.903T>G (p.Ile301Met) | |
| 18 | g.60371447A>G | CA504305093 | MC4R | c.903T>C (p.Ile301=) | |
| 18 | g.60371447A>T | CA504305091 | MC4R | c.903T>A (p.Ile301=) | |
| 18 | g.60371448A= | CA2307358960 | MC4R | c.902T= (p.Ile301=) | |
| 18 | g.60371448A>C | CA402718829 | MC4R | c.902T>G (p.Ile301Ser) | |
| 18 | g.60371448A>G | CA402718831 | MC4R | c.902T>C (p.Ile301Thr) | ClinVar dbSNP |
| 18 | g.60371448A>T | CA402718830 | MC4R | c.902T>A (p.Ile301Asn) | |
| 18 | g.60371449T>A | CA402718832 | MC4R | c.901A>T (p.Ile301Phe) | |
| 18 | g.60371449T>C | CA402718833 | MC4R | c.901A>G (p.Ile301Val) | |
| 18 | g.60371449T>G | CA402718834 | MC4R | c.901A>C (p.Ile301Leu) | |
| 18 | g.60371450C>A | CA504305094 | MC4R | c.900G>T (p.Leu300=) | |
| 18 | g.60371450C>G | CA504305096 | MC4R | c.900G>C (p.Leu300=) | |
| 18 | g.60371450C>T | CA504305098 | MC4R | c.900G>A (p.Leu300=) | |
| 18 | g.60371451del | CA2642029295 | MC4R | c.899del (p.Leu300ArgfsTer10) | gnomAD v4 |
| 18 | g.60371451A= | CA2307358961 | MC4R | c.899T= (p.Leu300=) | |
| 18 | g.60371451A>C | CA402718835 | MC4R | c.899T>G (p.Leu300Arg) | |
| 18 | g.60371451A>G | CA402718836 | MC4R | c.899T>C (p.Leu300Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371451A>T | CA402718837 | MC4R | c.899T>A (p.Leu300Gln) | |
| 18 | g.60371452G>A | CA504305100 | MC4R | c.898C>T (p.Leu300=) | |
| 18 | g.60371452G>C | CA402718838 | MC4R | c.898C>G (p.Leu300Val) | |
| 18 | g.60371452G>T | CA402718839 | MC4R | c.898C>A (p.Leu300Met) | |
| 18 | g.60371453A>C | CA504305103 | MC4R | c.897T>G (p.Pro299=) | |
| 18 | g.60371453A>G | CA504305102 | MC4R | c.897T>C (p.Pro299=) | |
| 18 | g.60371453A>T | CA504305101 | MC4R | c.897T>A (p.Pro299=) | |
| 18 | g.60371454G>A | CA301530009 | MC4R | c.896C>T (p.Pro299Leu) | dbSNP |
| 18 | g.60371454G>C | CA402718840 | MC4R | c.896C>G (p.Pro299Arg) | |
| 18 | g.60371454G= | CA2307358962 | MC4R | c.896C= (p.Pro299=) | |
| 18 | g.60371454G>T | CA214149 | MC4R | c.896C>A (p.Pro299His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371455G>A | CA402718841 | MC4R | c.895C>T (p.Pro299Ser) | ClinVar |
| 18 | g.60371455G>C | CA402718843 | MC4R | c.895C>G (p.Pro299Ala) | |
| 18 | g.60371455G>T | CA402718842 | MC4R | c.895C>A (p.Pro299Thr) | |
| 18 | g.60371456A>C | CA402718844 | MC4R | c.894T>G (p.Asp298Glu) | |
| 18 | g.60371456A>G | CA504305107 | MC4R | c.894T>C (p.Asp298=) | |
| 18 | g.60371456A>T | CA402718845 | MC4R | c.894T>A (p.Asp298Glu) | |
| 18 | g.60371457T>A | CA402718846 | MC4R | c.893A>T (p.Asp298Val) | |
| 18 | g.60371457T>C | CA402718847 | MC4R | c.893A>G (p.Asp298Gly) | |
| 18 | g.60371457T>G | CA402718848 | MC4R | c.893A>C (p.Asp298Ala) | |
| 18 | g.60371458C>A | CA402718849 | MC4R | c.892G>T (p.Asp298Tyr) | |
| 18 | g.60371458C= | CA2307358963 | MC4R | c.892G= (p.Asp298=) | |
| 18 | g.60371458C>G | CA402718850 | MC4R | c.892G>C (p.Asp298His) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371458C>T | CA8980815 | MC4R | c.892G>A (p.Asp298Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371459G>A | CA8980816 | MC4R | c.891C>T (p.Ile297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371459G>C | CA402718851 | MC4R | c.891C>G (p.Ile297Met) | |
| 18 | g.60371459G= | CA2307358964 | MC4R | c.891C= (p.Ile297=) | |
| 18 | g.60371459G>T | CA504305110 | MC4R | c.891C>A (p.Ile297=) | |
| 18 | g.60371460A= | CA2307358965 | MC4R | c.890T= (p.Ile297=) | |
| 18 | g.60371460A>C | CA402718852 | MC4R | c.890T>G (p.Ile297Ser) | |
| 18 | g.60371460A>G | CA301530010 | MC4R | c.890T>C (p.Ile297Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371460A>T | CA402718853 | MC4R | c.890T>A (p.Ile297Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371461T>A | CA402718854 | MC4R | c.889A>T (p.Ile297Phe) | |
| 18 | g.60371461T>C | CA402718855 | MC4R | c.889A>G (p.Ile297Val) | |
| 18 | g.60371461T>G | CA402718856 | MC4R | c.889A>C (p.Ile297Leu) | |
| 18 | g.60371462G>A | CA504305113 | MC4R | c.888C>T (p.Ile296=) | gnomAD v4 |
| 18 | g.60371462G>C | CA402718857 | MC4R | c.888C>G (p.Ile296Met) | |
| 18 | g.60371462G>T | CA504305114 | MC4R | c.888C>A (p.Ile296=) | |
| 18 | g.60371463A>C | CA402718858 | MC4R | c.887T>G (p.Ile296Ser) | |
| 18 | g.60371463A>G | CA402718859 | MC4R | c.887T>C (p.Ile296Thr) | |
| 18 | g.60371463A>T | CA402718860 | MC4R | c.887T>A (p.Ile296Asn) | |
| 18 | g.60371464T>A | CA402718861 | MC4R | c.886A>T (p.Ile296Phe) | |
| 18 | g.60371464T>C | CA402718862 | MC4R | c.886A>G (p.Ile296Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371464T>G | CA402718863 | MC4R | c.886A>C (p.Ile296Leu) | |
| 18 | g.60371464T= | CA2307358966 | MC4R | c.886A= (p.Ile296=) | |
| 18 | g.60371465T>A | CA504305118 | MC4R | c.885A>T (p.Ser295=) | |
| 18 | g.60371465T>C | CA504305119 | MC4R | c.885A>G (p.Ser295=) | |
| 18 | g.60371465T>G | CA504305120 | MC4R | c.885A>C (p.Ser295=) | |
| 18 | g.60371466G>A | CA402718864 | MC4R | c.884C>T (p.Ser295Leu) | gnomAD v4 |
| 18 | g.60371466G>C | CA402718865 | MC4R | c.884C>G (p.Ser295Ter) | |
| 18 | g.60371466G>T | CA402718866 | MC4R | c.884C>A (p.Ser295Ter) | gnomAD v4 |
| 18 | g.60371467A= | CA2307358967 | MC4R | c.883T= (p.Ser295=) | |
| 18 | g.60371467A>C | CA402718867 | MC4R | c.883T>G (p.Ser295Ala) | |
| 18 | g.60371467A>G | CA8980817 | MC4R | c.883T>C (p.Ser295Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371467A>T | CA402718868 | MC4R | c.883T>A (p.Ser295Thr) | |
| 18 | g.60371468A= | CA2307358968 | MC4R | c.882T= (p.Asn294=) | |
| 18 | g.60371468A>C | CA402718870 | MC4R | c.882T>G (p.Asn294Lys) | COSMIC |
| 18 | g.60371468A>G | CA8980818 | MC4R | c.882T>C (p.Asn294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371468A>T | CA402718869 | MC4R | c.882T>A (p.Asn294Lys) | |
| 18 | g.60371469T>A | CA402718871 | MC4R | c.881A>T (p.Asn294Ile) | |
| 18 | g.60371469T>C | CA402718872 | MC4R | c.881A>G (p.Asn294Ser) | |
| 18 | g.60371469T>G | CA402718873 | MC4R | c.881A>C (p.Asn294Thr) | |
| 18 | g.60371470T>A | CA402718874 | MC4R | c.880A>T (p.Asn294Tyr) | |
| 18 | g.60371470T>C | CA8980819 | MC4R | c.880A>G (p.Asn294Asp) | dbSNP ExAC gnomAD v2 |
| 18 | g.60371470T>G | CA402718875 | MC4R | c.880A>C (p.Asn294His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371470T= | CA2307358969 | MC4R | c.880A= (p.Asn294=) | |
| 18 | g.60371471A>C | CA402718877 | MC4R | c.879T>G (p.Cys293Trp) | |
| 18 | g.60371471A>G | CA504305127 | MC4R | c.879T>C (p.Cys293=) | |
| 18 | g.60371471A>T | CA402718876 | MC4R | c.879T>A (p.Cys293Ter) | |
| 18 | g.60371474_60371475dup | CA2642029296 | MC4R | c.878_879dup (p.Asn294ValfsTer8) | gnomAD v4 |
| 18 | g.60371472C>A | CA402718878 | MC4R | c.878G>T (p.Cys293Phe) | |
| 18 | g.60371472C= | CA2307358970 | MC4R | c.878G= (p.Cys293=) | |
| 18 | g.60371472C>G | CA402718879 | MC4R | c.878G>C (p.Cys293Ser) | |
| 18 | g.60371472C>T | CA402718880 | MC4R | c.878G>A (p.Cys293Tyr) | dbSNP |
| 18 | g.60371473A= | CA2307358971 | MC4R | c.877T= (p.Cys293=) | |
| 18 | g.60371473A>C | CA301530011 | MC4R | c.877T>G (p.Cys293Gly) | dbSNP |
| 18 | g.60371473A>G | CA402718881 | MC4R | c.877T>C (p.Cys293Arg) | |
| 18 | g.60371473A>T | CA402718882 | MC4R | c.877T>A (p.Cys293Ser) | |
| 18 | g.60371474C>A | CA402718883 | MC4R | c.876G>T (p.Met292Ile) | |
| 18 | g.60371474C= | CA2307358974 | MC4R | c.876G= (p.Met292=) | |
| 18 | g.60371474C>G | CA402718885 | MC4R | c.876G>C (p.Met292Ile) | |
| 18 | g.60371474C>T | CA402718884 | MC4R | c.876G>A (p.Met292Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371474_60371475delinsCA | CA2307358973 | MC4R | c.875_876delinsTG (p.Met292=) | |
| 18 | g.60371474_60371477delinsCATG | CA2307358972 | MC4R | c.873_876delinsCATG (p.Ile291=) | |
| 18 | g.60371475del | CA8980820 | MC4R | c.875del (p.Met292SerfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371475A>C | CA402718886 | MC4R | c.875T>G (p.Met292Arg) | |
| 18 | g.60371475A>G | CA402718887 | MC4R | c.875T>C (p.Met292Thr) | gnomAD v4 |
| 18 | g.60371475A>T | CA402718888 | MC4R | c.875T>A (p.Met292Lys) | |
| 18 | g.60371477_60371479del | CA8980821 | MC4R | c.873_875del (p.Ile291del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371476T>A | CA402718889 | MC4R | c.874A>T (p.Met292Leu) | |
| 18 | g.60371476T>C | CA402718890 | MC4R | c.874A>G (p.Met292Val) | gnomAD v4 |
| 18 | g.60371476T>G | CA402718891 | MC4R | c.874A>C (p.Met292Leu) | |
| 18 | g.60371477del | CA2576516485 | MC4R | c.873del (p.Met292CysfsTer9) | |
| 18 | g.60371477G>A | CA8980822 | MC4R | c.873C>T (p.Ile291=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371477G>C | CA402718892 | MC4R | c.873C>G (p.Ile291Met) | |
| 18 | g.60371477G= | CA2307358975 | MC4R | c.873C= (p.Ile291=) | |
| 18 | g.60371477G>T | CA504305133 | MC4R | c.873C>A (p.Ile291=) | gnomAD v4 |
| 18 | g.60371478A= | CA2307358976 | MC4R | c.872T= (p.Ile291=) | |
| 18 | g.60371478A>C | CA8980823 | MC4R | c.872T>G (p.Ile291Ser) | dbSNP ExAC gnomAD v2 |
| 18 | g.60371478A>G | CA402718894 | MC4R | c.872T>C (p.Ile291Thr) | |
| 18 | g.60371478A>T | CA402718893 | MC4R | c.872T>A (p.Ile291Asn) | |
| 18 | g.60371479T>A | CA402718895 | MC4R | c.871A>T (p.Ile291Phe) | |
| 18 | g.60371479T>C | CA402718896 | MC4R | c.871A>G (p.Ile291Val) | |
| 18 | g.60371479T>G | CA402718897 | MC4R | c.871A>C (p.Ile291Leu) | |
| 18 | g.60371480del | CA2695227730 | MC4R | c.870del (p.Ile291SerfsTer10) | |
| 18 | g.60371480C>A | CA504305137 | MC4R | c.870G>T (p.Leu290=) | gnomAD v4 |
| 18 | g.60371480C>G | CA504305138 | MC4R | c.870G>C (p.Leu290=) | |
| 18 | g.60371480C>T | CA504305140 | MC4R | c.870G>A (p.Leu290=) | dbSNP |
| 18 | g.60371481A= | CA2307358977 | MC4R | c.869T= (p.Leu290=) | |
| 18 | g.60371481A>C | CA402718898 | MC4R | c.869T>G (p.Leu290Arg) | |
| 18 | g.60371481A>G | CA402718899 | MC4R | c.869T>C (p.Leu290Pro) | |
| 18 | g.60371481A>T | CA402718900 | MC4R | c.869T>A (p.Leu290Gln) | dbSNP |
| 18 | g.60371482G>A | CA504305143 | MC4R | c.868C>T (p.Leu290=) | |
| 18 | g.60371482G>C | CA402718901 | MC4R | c.868C>G (p.Leu290Val) | |
| 18 | g.60371482G>T | CA402718902 | MC4R | c.868C>A (p.Leu290Met) | |
| 18 | g.60371483T>A | CA504305145 | MC4R | c.867A>T (p.Ile289=) | COSMIC |
| 18 | g.60371483T>C | CA402718903 | MC4R | c.867A>G (p.Ile289Met) | |
| 18 | g.60371483T>G | CA504305144 | MC4R | c.867A>C (p.Ile289=) | |
| 18 | g.60371484A= | CA2307358978 | MC4R | c.866T= (p.Ile289=) | |
| 18 | g.60371484A>C | CA402718904 | MC4R | c.866T>G (p.Ile289Arg) | |
| 18 | g.60371484A>G | CA402718905 | MC4R | c.866T>C (p.Ile289Thr) | dbSNP |
| 18 | g.60371484A>T | CA402718906 | MC4R | c.866T>A (p.Ile289Lys) | |
| 18 | g.60371485T>A | CA402718907 | MC4R | c.865A>T (p.Ile289Leu) | |
| 18 | g.60371485T>C | CA402718908 | MC4R | c.865A>G (p.Ile289Val) | |
| 18 | g.60371485T>G | CA402718909 | MC4R | c.865A>C (p.Ile289Leu) | |
| 18 | g.60371486G>A | CA504305149 | MC4R | c.864C>T (p.Leu288=) | gnomAD v4 |
| 18 | g.60371486G>C | CA504305150 | MC4R | c.864C>G (p.Leu288=) | |
| 18 | g.60371486G>T | CA504305151 | MC4R | c.864C>A (p.Leu288=) | |
| 18 | g.60371487A>C | CA402718912 | MC4R | c.863T>G (p.Leu288Arg) | |
| 18 | g.60371487A>G | CA402718910 | MC4R | c.863T>C (p.Leu288Pro) | |
| 18 | g.60371487A>T | CA402718911 | MC4R | c.863T>A (p.Leu288His) | COSMIC |
| 18 | g.60371488G>A | CA402718913 | MC4R | c.862C>T (p.Leu288Phe) | ClinVar COSMIC |
| 18 | g.60371488G>C | CA402718914 | MC4R | c.862C>G (p.Leu288Val) | |
| 18 | g.60371488G>T | CA402718915 | MC4R | c.862C>A (p.Leu288Ile) | COSMIC |
| 18 | g.60371489A= | CA2307358979 | MC4R | c.861T= (p.Tyr287=) | |
| 18 | g.60371489A>C | CA402718916 | MC4R | c.861T>G (p.Tyr287Ter) | |
| 18 | g.60371489A>G | CA504305154 | MC4R | c.861T>C (p.Tyr287=) | gnomAD v4 |
| 18 | g.60371489A>T | CA210721 | MC4R | c.861T>A (p.Tyr287Ter) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371490T>A | CA402718917 | MC4R | c.860A>T (p.Tyr287Phe) | |
| 18 | g.60371490T>C | CA8980824 | MC4R | c.860A>G (p.Tyr287Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371490T>G | CA402718918 | MC4R | c.860A>C (p.Tyr287Ser) | |
| 18 | g.60371490T= | CA2307358980 | MC4R | c.860A= (p.Tyr287=) | |
| 18 | g.60371491A>C | CA402718919 | MC4R | c.859T>G (p.Tyr287Asp) | |
| 18 | g.60371491A>G | CA402718920 | MC4R | c.859T>C (p.Tyr287His) | |
| 18 | g.60371491A>T | CA402718921 | MC4R | c.859T>A (p.Tyr287Asn) | |
| 18 | g.60371492C>A | CA402718922 | MC4R | c.858G>T (p.Leu286Phe) | gnomAD v4 |
| 18 | g.60371492C>G | CA402718923 | MC4R | c.858G>C (p.Leu286Phe) | |
| 18 | g.60371492C>T | CA504305156 | MC4R | c.858G>A (p.Leu286=) | |
| 18 | g.60371493A= | CA2307358981 | MC4R | c.857T= (p.Leu286=) | |
| 18 | g.60371493A>C | CA402718924 | MC4R | c.857T>G (p.Leu286Trp) | dbSNP |
| 18 | g.60371493A>G | CA402718926 | MC4R | c.857T>C (p.Leu286Ser) | |
| 18 | g.60371493A>T | CA402718925 | MC4R | c.857T>A (p.Leu286Ter) | |
| 18 | g.60371494A>C | CA402718927 | MC4R | c.856T>G (p.Leu286Val) | |
| 18 | g.60371494A>G | CA504305158 | MC4R | c.856T>C (p.Leu286=) | |
| 18 | g.60371494A>T | CA402718928 | MC4R | c.856T>A (p.Leu286Met) | |
| 18 | g.60371495G>A | CA504305160 | MC4R | c.855C>T (p.Asn285=) | |
| 18 | g.60371495G>C | CA402718929 | MC4R | c.855C>G (p.Asn285Lys) | |
| 18 | g.60371495G>T | CA402718930 | MC4R | c.855C>A (p.Asn285Lys) | |
| 18 | g.60371496T>A | CA402718931 | MC4R | c.854A>T (p.Asn285Ile) | |
| 18 | g.60371496T>C | CA402718932 | MC4R | c.854A>G (p.Asn285Ser) | |
| 18 | g.60371496T>G | CA402718933 | MC4R | c.854A>C (p.Asn285Thr) | |
| 18 | g.60371497T>A | CA402718934 | MC4R | c.853A>T (p.Asn285Tyr) | |
| 18 | g.60371497T>C | CA402718935 | MC4R | c.853A>G (p.Asn285Asp) | |
| 18 | g.60371497T>G | CA402718936 | MC4R | c.853A>C (p.Asn285His) | |
| 18 | g.60371498A= | CA2307358982 | MC4R | c.852T= (p.Phe284=) | |
| 18 | g.60371498A>C | CA402718937 | MC4R | c.852T>G (p.Phe284Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371498A>G | CA504305166 | MC4R | c.852T>C (p.Phe284=) | gnomAD v4 |
| 18 | g.60371498A>T | CA402718938 | MC4R | c.852T>A (p.Phe284Leu) | |
| 18 | g.60371499A= | CA2307358983 | MC4R | c.851T= (p.Phe284=) | |
| 18 | g.60371499A>C | CA402718941 | MC4R | c.851T>G (p.Phe284Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371499A>G | CA402718940 | MC4R | c.851T>C (p.Phe284Ser) | |
| 18 | g.60371499A>T | CA402718939 | MC4R | c.851T>A (p.Phe284Tyr) | COSMIC |
| 18 | g.60371500A>C | CA402718942 | MC4R | c.850T>G (p.Phe284Val) | |
| 18 | g.60371500A>G | CA402718943 | MC4R | c.850T>C (p.Phe284Leu) | |
| 18 | g.60371500A>T | CA402718944 | MC4R | c.850T>A (p.Phe284Ile) | dbSNP gnomAD v4 |
| 18 | g.60371501G>A | CA8980825 | MC4R | c.849C>T (p.His283=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 18 | g.60371501G>C | CA402718945 | MC4R | c.849C>G (p.His283Gln) | |
| 18 | g.60371501G= | CA2307358984 | MC4R | c.849C= (p.His283=) | |
| 18 | g.60371501G>T | CA402718946 | MC4R | c.849C>A (p.His283Gln) | |
| 18 | g.60371502T>A | CA402718947 | MC4R | c.848A>T (p.His283Leu) | |
| 18 | g.60371502T>C | CA402718948 | MC4R | c.848A>G (p.His283Arg) | gnomAD v4 |
| 18 | g.60371502T>G | CA402718949 | MC4R | c.848A>C (p.His283Pro) | |
| 18 | g.60371503G>A | CA402718950 | MC4R | c.847C>T (p.His283Tyr) | ClinVar dbSNP gnomAD v2 |
| 18 | g.60371503G>C | CA402718951 | MC4R | c.847C>G (p.His283Asp) | |
| 18 | g.60371503G= | CA2307358985 | MC4R | c.847C= (p.His283=) | |
| 18 | g.60371503G>T | CA402718952 | MC4R | c.847C>A (p.His283Asn) | COSMIC |
| 18 | g.60371504A>C | CA504305173 | MC4R | c.846T>G (p.Ser282=) | |
| 18 | g.60371504A>G | CA504305174 | MC4R | c.846T>C (p.Ser282=) | |
| 18 | g.60371504A>T | CA504305175 | MC4R | c.846T>A (p.Ser282=) | |
| 18 | g.60371505G>A | CA402718953 | MC4R | c.845C>T (p.Ser282Phe) | |
| 18 | g.60371505G>C | CA402718955 | MC4R | c.845C>G (p.Ser282Cys) | |
| 18 | g.60371505G>T | CA402718954 | MC4R | c.845C>A (p.Ser282Tyr) | |
| 18 | g.60371506A>C | CA402718956 | MC4R | c.844T>G (p.Ser282Ala) | |
| 18 | g.60371506A>G | CA402718958 | MC4R | c.844T>C (p.Ser282Pro) | |
| 18 | g.60371506A>T | CA402718957 | MC4R | c.844T>A (p.Ser282Thr) | |
| 18 | g.60371507C>A | CA402718959 | MC4R | c.843G>T (p.Met281Ile) | |
| 18 | g.60371507C= | CA2307358986 | MC4R | c.843G= (p.Met281=) | |
| 18 | g.60371507C>G | CA402718960 | MC4R | c.843G>C (p.Met281Ile) | |
| 18 | g.60371507C>T | CA301530012 | MC4R | c.843G>A (p.Met281Ile) | dbSNP gnomAD v4 |
| 18 | g.60371508A>C | CA402718961 | MC4R | c.842T>G (p.Met281Arg) | |
| 18 | g.60371508A>G | CA402718962 | MC4R | c.842T>C (p.Met281Thr) | ClinVar |
| 18 | g.60371508A>T | CA402718963 | MC4R | c.842T>A (p.Met281Lys) | |
| 18 | g.60371509T>A | CA402718964 | MC4R | c.841A>T (p.Met281Leu) | |
| 18 | g.60371509T>C | CA402718965 | MC4R | c.841A>G (p.Met281Val) | gnomAD v4 |
| 18 | g.60371509T>G | CA402718966 | MC4R | c.841A>C (p.Met281Leu) | gnomAD v4 |
| 18 | g.60371510G>A | CA504305182 | MC4R | c.840C>T (p.Phe280=) | |
| 18 | g.60371510G>C | CA402718967 | MC4R | c.840C>G (p.Phe280Leu) | |
| 18 | g.60371510G>T | CA402718968 | MC4R | c.840C>A (p.Phe280Leu) | |
| 18 | g.60371511A>C | CA402718971 | MC4R | c.839T>G (p.Phe280Cys) | |
| 18 | g.60371511A>G | CA402718970 | MC4R | c.839T>C (p.Phe280Ser) | |
| 18 | g.60371511A>T | CA402718969 | MC4R | c.839T>A (p.Phe280Tyr) | |
| 18 | g.60371512A= | CA2307358987 | MC4R | c.838T= (p.Phe280=) | |
| 18 | g.60371512A>C | CA402718972 | MC4R | c.838T>G (p.Phe280Val) | |
| 18 | g.60371512A>G | CA8980826 | MC4R | c.838T>C (p.Phe280Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371512A>T | CA402718973 | MC4R | c.838T>A (p.Phe280Ile) | |
| 18 | g.60371513G>A | CA8980827 | MC4R | c.837C>T (p.Cys279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371513G>C | CA402718974 | MC4R | c.837C>G (p.Cys279Trp) | |
| 18 | g.60371513G= | CA2307358988 | MC4R | c.837C= (p.Cys279=) | |
| 18 | g.60371513G>T | CA402718975 | MC4R | c.837C>A (p.Cys279Ter) | gnomAD v4 |
| 18 | g.60371513_60371515delinsGCA | CA2307358989 | MC4R | c.835_837delinsTGC (p.Cys279=) | |
| 18 | g.60371514C>A | CA402718976 | MC4R | c.836G>T (p.Cys279Phe) | |
| 18 | g.60371514C= | CA2307358990 | MC4R | c.836G= (p.Cys279=) | |
| 18 | g.60371514C>G | CA402718977 | MC4R | c.836G>C (p.Cys279Ser) | |
| 18 | g.60371514C>T | CA402718978 | MC4R | c.836G>A (p.Cys279Tyr) | ClinVar dbSNP |
| 18 | g.60371520_60371521dup | CA214148 | MC4R | c.835_836dup (p.Phe280AlafsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371520_60371521del | CA630399129 | MC4R | c.835_836del (p.Cys279LeufsTer6) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371515A>C | CA402718981 | MC4R | c.835T>G (p.Cys279Gly) | |
| 18 | g.60371515A>G | CA402718980 | MC4R | c.835T>C (p.Cys279Arg) | ClinVar |
| 18 | g.60371515A>T | CA402718979 | MC4R | c.835T>A (p.Cys279Ser) | |
| 18 | g.60371516C>A | CA504305197 | MC4R | c.834G>T (p.Val278=) | |
| 18 | g.60371516C= | CA2307358991 | MC4R | c.834G= (p.Val278=) | |
| 18 | g.60371516C>G | CA504305199 | MC4R | c.834G>C (p.Val278=) | |
| 18 | g.60371516C>T | CA8980828 | MC4R | c.834G>A (p.Val278=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371517A>C | CA402718982 | MC4R | c.833T>G (p.Val278Gly) | gnomAD v4 |
| 18 | g.60371517A>G | CA402718983 | MC4R | c.833T>C (p.Val278Ala) | |
| 18 | g.60371517A>T | CA402718984 | MC4R | c.833T>A (p.Val278Glu) | |
| 18 | g.60371518C>A | CA402718985 | MC4R | c.832G>T (p.Val278Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371518C= | CA2307358992 | MC4R | c.832G= (p.Val278=) | |
| 18 | g.60371518C>G | CA402718986 | MC4R | c.832G>C (p.Val278Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371518C>T | CA402718987 | MC4R | c.832G>A (p.Val278Met) | dbSNP gnomAD v4 |
| 18 | g.60371519A= | CA2307358993 | MC4R | c.831T= (p.Cys277=) | |
| 18 | g.60371519A>C | CA402718988 | MC4R | c.831T>G (p.Cys277Trp) | |
| 18 | g.60371519A>G | CA504305205 | MC4R | c.831T>C (p.Cys277=) | COSMIC |
| 18 | g.60371519A>T | CA8980829 | MC4R | c.831T>A (p.Cys277Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371520C>A | CA402718989 | MC4R | c.830G>T (p.Cys277Phe) | |
| 18 | g.60371520C>G | CA402718990 | MC4R | c.830G>C (p.Cys277Ser) | |
| 18 | g.60371520C>T | CA402718991 | MC4R | c.830G>A (p.Cys277Tyr) | |
| 18 | g.60371520_60371522delinsCAA | CA2307358994 | MC4R | c.828_830delinsTTG (p.Tyr276=) | |
| 18 | g.60371521A>C | CA402718994 | MC4R | c.829T>G (p.Cys277Gly) | |
| 18 | g.60371521A>G | CA402718993 | MC4R | c.829T>C (p.Cys277Arg) | |
| 18 | g.60371521A>T | CA402718992 | MC4R | c.829T>A (p.Cys277Ser) | |
| 18 | g.60371521_60371522del | CA781081168 | MC4R | c.828_829del (p.Tyr276Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371522A= | CA2307358995 | MC4R | c.828T= (p.Tyr276=) | |
| 18 | g.60371522A>C | CA402718995 | MC4R | c.828T>G (p.Tyr276Ter) | |
| 18 | g.60371522A>G | CA8980830 | MC4R | c.828T>C (p.Tyr276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371522A>T | CA402718996 | MC4R | c.828T>A (p.Tyr276Ter) | |
| 18 | g.60371523T>A | CA402718997 | MC4R | c.827A>T (p.Tyr276Phe) | |
| 18 | g.60371523T>C | CA8980831 | MC4R | c.827A>G (p.Tyr276Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371523T>G | CA402718998 | MC4R | c.827A>C (p.Tyr276Ser) | |
| 18 | g.60371523T= | CA2307358996 | MC4R | c.827A= (p.Tyr276=) | |
| 18 | g.60371524A= | CA2307358997 | MC4R | c.826T= (p.Tyr276=) | |
| 18 | g.60371524A>C | CA402718999 | MC4R | c.826T>G (p.Tyr276Asp) | |
| 18 | g.60371524A>G | CA402719000 | MC4R | c.826T>C (p.Tyr276His) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371524A>T | CA402719001 | MC4R | c.826T>A (p.Tyr276Asn) | |
| 18 | g.60371525T>A | CA504305227 | MC4R | c.825A>T (p.Pro275=) | |
| 18 | g.60371525T>C | CA504305225 | MC4R | c.825A>G (p.Pro275=) | gnomAD v4 |
| 18 | g.60371525T>G | CA504305222 | MC4R | c.825A>C (p.Pro275=) | |
| 18 | g.60371526G>A | CA402719002 | MC4R | c.824C>T (p.Pro275Leu) | |
| 18 | g.60371526G>C | CA402719003 | MC4R | c.824C>G (p.Pro275Arg) | |
| 18 | g.60371526G>T | CA402719004 | MC4R | c.824C>A (p.Pro275Gln) | |
| 18 | g.60371527G>A | CA8980832 | MC4R | c.823C>T (p.Pro275Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371527G>C | CA402719006 | MC4R | c.823C>G (p.Pro275Ala) | |
| 18 | g.60371527G= | CA2307358998 | MC4R | c.823C= (p.Pro275=) | |
| 18 | g.60371527G>T | CA402719005 | MC4R | c.823C>A (p.Pro275Thr) | |
| 18 | g.60371528A>C | CA402719007 | MC4R | c.822T>G (p.Asn274Lys) | |
| 18 | g.60371528A>G | CA504305235 | MC4R | c.822T>C (p.Asn274=) | |
| 18 | g.60371528A>T | CA402719008 | MC4R | c.822T>A (p.Asn274Lys) | |
| 18 | g.60371529T>A | CA402719009 | MC4R | c.821A>T (p.Asn274Ile) | |
| 18 | g.60371529T>C | CA210717 | MC4R | c.821A>G (p.Asn274Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371529T>G | CA402719010 | MC4R | c.821A>C (p.Asn274Thr) | |
| 18 | g.60371529T= | CA2307358999 | MC4R | c.821A= (p.Asn274=) |