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.60371925G>A | CA402719837 | MC4R | c.425C>T (p.Ser142Leu) | |
| 18 | g.60371925G>C | CA402719838 | MC4R | c.425C>G (p.Ser142Ter) | |
| 18 | g.60371925G>T | CA402719839 | MC4R | c.425C>A (p.Ser142Ter) | |
| 18 | g.60371926A>C | CA402719840 | MC4R | c.424T>G (p.Ser142Ala) | |
| 18 | g.60371926A>G | CA402719841 | MC4R | c.424T>C (p.Ser142Pro) | |
| 18 | g.60371926A>T | CA402719842 | MC4R | c.424T>A (p.Ser142Thr) | |
| 18 | g.60371927A>C | CA504305601 | MC4R | c.423T>G (p.Leu141=) | |
| 18 | g.60371927A>G | CA504305602 | MC4R | c.423T>C (p.Leu141=) | |
| 18 | g.60371927A>T | CA504305603 | MC4R | c.423T>A (p.Leu141=) | |
| 18 | g.60371928A>C | CA402719843 | MC4R | c.422T>G (p.Leu141Arg) | ClinVar |
| 18 | g.60371928A>G | CA402719844 | MC4R | c.422T>C (p.Leu141Pro) | |
| 18 | g.60371928A>T | CA402719845 | MC4R | c.422T>A (p.Leu141His) | COSMIC |
| 18 | g.60371929G>A | CA402719846 | MC4R | c.421C>T (p.Leu141Phe) | gnomAD v4 |
| 18 | g.60371929G>C | CA402719847 | MC4R | c.421C>G (p.Leu141Val) | |
| 18 | g.60371929G>T | CA402719848 | MC4R | c.421C>A (p.Leu141Ile) | |
| 18 | g.60371930C>A | CA504305612 | MC4R | c.420G>T (p.Leu140=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371930C= | CA2307359204 | MC4R | c.420G= (p.Leu140=) | |
| 18 | g.60371930C>G | CA504305611 | MC4R | c.420G>C (p.Leu140=) | |
| 18 | g.60371930C>T | CA504305610 | MC4R | c.420G>A (p.Leu140=) | dbSNP gnomAD v4 |
| 18 | g.60371931A>C | CA402719849 | MC4R | c.419T>G (p.Leu140Arg) | |
| 18 | g.60371931A>G | CA402719851 | MC4R | c.419T>C (p.Leu140Pro) | ClinVar |
| 18 | g.60371931A>T | CA402719850 | MC4R | c.419T>A (p.Leu140Gln) | |
| 18 | g.60371932G>A | CA504305616 | MC4R | c.418C>T (p.Leu140=) | dbSNP gnomAD v4 |
| 18 | g.60371932G>C | CA402719852 | MC4R | c.418C>G (p.Leu140Val) | |
| 18 | g.60371932G= | CA2307359205 | MC4R | c.418C= (p.Leu140=) | |
| 18 | g.60371932G>T | CA402719853 | MC4R | c.418C>A (p.Leu140Met) | |
| 18 | g.60371933del | CA2499225244 | MC4R | c.418del (p.Leu140CysfsTer22) | ClinVar dbSNP |
| 18 | g.60371933G>A | CA504305617 | MC4R | c.417C>T (p.Ser139=) | |
| 18 | g.60371933G>C | CA8980928 | MC4R | c.417C>G (p.Ser139Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371933G= | CA2307359206 | MC4R | c.417C= (p.Ser139=) | |
| 18 | g.60371933G>T | CA402719854 | MC4R | c.417C>A (p.Ser139Arg) | |
| 18 | g.60371934C>A | CA402719855 | MC4R | c.416G>T (p.Ser139Ile) | |
| 18 | g.60371934C>G | CA402719856 | MC4R | c.416G>C (p.Ser139Thr) | |
| 18 | g.60371934C>T | CA402719857 | MC4R | c.416G>A (p.Ser139Asn) | |
| 18 | g.60371935T>A | CA402719858 | MC4R | c.415A>T (p.Ser139Cys) | |
| 18 | g.60371935T>C | CA402719859 | MC4R | c.415A>G (p.Ser139Gly) | |
| 18 | g.60371935T>G | CA402719860 | MC4R | c.415A>C (p.Ser139Arg) | |
| 18 | g.60371936G>A | CA504305620 | MC4R | c.414C>T (p.Cys138=) | dbSNP |
| 18 | g.60371936G>C | CA402719862 | MC4R | c.414C>G (p.Cys138Trp) | |
| 18 | g.60371936G= | CA2307359207 | MC4R | c.414C= (p.Cys138=) | |
| 18 | g.60371936G>T | CA402719861 | MC4R | c.414C>A (p.Cys138Ter) | COSMIC |
| 18 | g.60371937C>A | CA402719863 | MC4R | c.413G>T (p.Cys138Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371937C= | CA2307359208 | MC4R | c.413G= (p.Cys138=) | |
| 18 | g.60371937C>G | CA402719864 | MC4R | c.413G>C (p.Cys138Ser) | |
| 18 | g.60371937C>T | CA402719865 | MC4R | c.413G>A (p.Cys138Tyr) | |
| 18 | g.60371938A>C | CA402719866 | MC4R | c.412T>G (p.Cys138Gly) | |
| 18 | g.60371938A>G | CA402719867 | MC4R | c.412T>C (p.Cys138Arg) | |
| 18 | g.60371938A>T | CA402719868 | MC4R | c.412T>A (p.Cys138Ser) | |
| 18 | g.60371940dup | CA2307359209 | MC4R | c.412dup (p.Cys138LeufsTer22) | dbSNP |
| 18 | g.60371939A>C | CA402719869 | MC4R | c.411T>G (p.Ile137Met) | |
| 18 | g.60371939A>G | CA504305622 | MC4R | c.411T>C (p.Ile137=) | |
| 18 | g.60371939A>T | CA504305624 | MC4R | c.411T>A (p.Ile137=) | |
| 18 | g.60371940A= | CA2307359210 | MC4R | c.410T= (p.Ile137=) | |
| 18 | g.60371940A>C | CA402719870 | MC4R | c.410T>G (p.Ile137Ser) | |
| 18 | g.60371940A>G | CA8980929 | MC4R | c.410T>C (p.Ile137Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371940A>T | CA402719871 | MC4R | c.410T>A (p.Ile137Asn) | |
| 18 | g.60371941T>A | CA402719872 | MC4R | c.409A>T (p.Ile137Phe) | |
| 18 | g.60371941T>C | CA8980930 | MC4R | c.409A>G (p.Ile137Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371941T>G | CA402719873 | MC4R | c.409A>C (p.Ile137Leu) | |
| 18 | g.60371941T= | CA2307359211 | MC4R | c.409A= (p.Ile137=) | |
| 18 | g.60371942G>A | CA504305629 | MC4R | c.408C>T (p.Ser136=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371942G>C | CA504305630 | MC4R | c.408C>G (p.Ser136=) | |
| 18 | g.60371942G= | CA2307359212 | MC4R | c.408C= (p.Ser136=) | |
| 18 | g.60371942G>T | CA504305631 | MC4R | c.408C>A (p.Ser136=) | gnomAD v4 |
| 18 | g.60371943G>A | CA402719876 | MC4R | c.407C>T (p.Ser136Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371943G>C | CA402719874 | MC4R | c.407C>G (p.Ser136Cys) | |
| 18 | g.60371943G= | CA2307359213 | MC4R | c.407C= (p.Ser136=) | |
| 18 | g.60371943G>T | CA402719875 | MC4R | c.407C>A (p.Ser136Tyr) | |
| 18 | g.60371944A>C | CA402719877 | MC4R | c.406T>G (p.Ser136Ala) | |
| 18 | g.60371944A>G | CA402719878 | MC4R | c.406T>C (p.Ser136Pro) | gnomAD v4 |
| 18 | g.60371944A>T | CA402719879 | MC4R | c.406T>A (p.Ser136Thr) | |
| 18 | g.60371945T>A | CA504305634 | MC4R | c.405A>T (p.Ala135=) | dbSNP |
| 18 | g.60371945T>C | CA504305636 | MC4R | c.405A>G (p.Ala135=) | |
| 18 | g.60371945T>G | CA8980931 | MC4R | c.405A>C (p.Ala135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371945T= | CA2307359214 | MC4R | c.405A= (p.Ala135=) | |
| 18 | g.60371946G>A | CA402719880 | MC4R | c.404C>T (p.Ala135Val) | gnomAD v4 |
| 18 | g.60371946G>C | CA402719881 | MC4R | c.404C>G (p.Ala135Gly) | |
| 18 | g.60371946G>T | CA402719882 | MC4R | c.404C>A (p.Ala135Glu) | |
| 18 | g.60371947C>A | CA402719883 | MC4R | c.403G>T (p.Ala135Ser) | gnomAD v4 |
| 18 | g.60371947C>G | CA402719884 | MC4R | c.403G>C (p.Ala135Pro) | ClinVar |
| 18 | g.60371947C>T | CA402719885 | MC4R | c.403G>A (p.Ala135Thr) | gnomAD v4 |
| 18 | g.60371948A>C | CA504305638 | MC4R | c.402T>G (p.Leu134=) | |
| 18 | g.60371948A>G | CA504305639 | MC4R | c.402T>C (p.Leu134=) | |
| 18 | g.60371948A>T | CA504305640 | MC4R | c.402T>A (p.Leu134=) | |
| 18 | g.60371949dup | CA2642029304 | MC4R | c.402dup (p.Ala135CysfsTer25) | gnomAD v4 |
| 18 | g.60371949A= | CA2307359215 | MC4R | c.401T= (p.Leu134=) | |
| 18 | g.60371949A>C | CA402719886 | MC4R | c.401T>G (p.Leu134Arg) | |
| 18 | g.60371949A>G | CA301530040 | MC4R | c.401T>C (p.Leu134Pro) | dbSNP |
| 18 | g.60371949A>T | CA402719887 | MC4R | c.401T>A (p.Leu134His) | |
| 18 | g.60371950G>A | CA402719889 | MC4R | c.400C>T (p.Leu134Phe) | gnomAD v4 |
| 18 | g.60371950G>C | CA402719890 | MC4R | c.400C>G (p.Leu134Val) | |
| 18 | g.60371950G>T | CA402719888 | MC4R | c.400C>A (p.Leu134Ile) | |
| 18 | g.60371951C>A | CA402719892 | MC4R | c.399G>T (p.Leu133Phe) | |
| 18 | g.60371951C= | CA2307359216 | MC4R | c.399G= (p.Leu133=) | |
| 18 | g.60371951C>G | CA402719891 | MC4R | c.399G>C (p.Leu133Phe) | |
| 18 | g.60371951C>T | CA504305644 | MC4R | c.399G>A (p.Leu133=) | dbSNP gnomAD v4 |
| 18 | g.60371952A= | CA2307359217 | MC4R | c.398T= (p.Leu133=) | |
| 18 | g.60371952A>C | CA402719893 | MC4R | c.398T>G (p.Leu133Trp) | |
| 18 | g.60371952A>G | CA402719894 | MC4R | c.398T>C (p.Leu133Ser) | dbSNP |
| 18 | g.60371952A>T | CA402719895 | MC4R | c.398T>A (p.Leu133Ter) | |
| 18 | g.60371953A= | CA2307359218 | MC4R | c.397T= (p.Leu133=) | |
| 18 | g.60371953A>C | CA402719896 | MC4R | c.397T>G (p.Leu133Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371953A>G | CA8980932 | MC4R | c.397T>C (p.Leu133=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371953A>T | CA402719897 | MC4R | c.397T>A (p.Leu133Met) | |
| 18 | g.60371954G>A | CA504305646 | MC4R | c.396C>T (p.Ser132=) | gnomAD v4 |
| 18 | g.60371954G>C | CA504305647 | MC4R | c.396C>G (p.Ser132=) | |
| 18 | g.60371954G>T | CA504305648 | MC4R | c.396C>A (p.Ser132=) | |
| 18 | g.60371955G>A | CA402719900 | MC4R | c.395C>T (p.Ser132Phe) | |
| 18 | g.60371955G>C | CA402719898 | MC4R | c.395C>G (p.Ser132Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371955G= | CA2307359219 | MC4R | c.395C= (p.Ser132=) | |
| 18 | g.60371955G>T | CA402719899 | MC4R | c.395C>A (p.Ser132Tyr) | |
| 18 | g.60371956A>C | CA402719901 | MC4R | c.394T>G (p.Ser132Ala) | |
| 18 | g.60371956A>G | CA402719902 | MC4R | c.394T>C (p.Ser132Pro) | |
| 18 | g.60371956A>T | CA402719903 | MC4R | c.394T>A (p.Ser132Thr) | |
| 18 | g.60371957G>A | CA504305650 | MC4R | c.393C>T (p.Ser131=) | gnomAD v4 |
| 18 | g.60371957G>C | CA402719904 | MC4R | c.393C>G (p.Ser131Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371957G= | CA2307359220 | MC4R | c.393C= (p.Ser131=) | |
| 18 | g.60371957G>T | CA402719905 | MC4R | c.393C>A (p.Ser131Arg) | |
| 18 | g.60371958C>A | CA402719908 | MC4R | c.392G>T (p.Ser131Ile) | |
| 18 | g.60371958C>G | CA402719906 | MC4R | c.392G>C (p.Ser131Thr) | |
| 18 | g.60371958C>T | CA402719907 | MC4R | c.392G>A (p.Ser131Asn) | |
| 18 | g.60371959T>A | CA402719909 | MC4R | c.391A>T (p.Ser131Cys) | |
| 18 | g.60371959T>C | CA402719910 | MC4R | c.391A>G (p.Ser131Gly) | gnomAD v4 |
| 18 | g.60371959T>G | CA402719911 | MC4R | c.391A>C (p.Ser131Arg) | |
| 18 | g.60371960A= | CA2307359221 | MC4R | c.390T= (p.Cys130=) | |
| 18 | g.60371960A>C | CA402719912 | MC4R | c.390T>G (p.Cys130Trp) | gnomAD v4 |
| 18 | g.60371960A>G | CA301530041 | MC4R | c.390T>C (p.Cys130=) | dbSNP gnomAD v4 |
| 18 | g.60371960A>T | CA402719913 | MC4R | c.390T>A (p.Cys130Ter) | |
| 18 | g.60371961C>A | CA402719914 | MC4R | c.389G>T (p.Cys130Phe) | |
| 18 | g.60371961C>G | CA402719915 | MC4R | c.389G>C (p.Cys130Ser) | |
| 18 | g.60371961C>T | CA402719916 | MC4R | c.389G>A (p.Cys130Tyr) | |
| 18 | g.60371962A>C | CA402719917 | MC4R | c.388T>G (p.Cys130Gly) | |
| 18 | g.60371962A>G | CA402719918 | MC4R | c.388T>C (p.Cys130Arg) | |
| 18 | g.60371962A>T | CA402719919 | MC4R | c.388T>A (p.Cys130Ser) | gnomAD v4 COSMIC |
| 18 | g.60371963G>A | CA504305657 | MC4R | c.387C>T (p.Ile129=) | gnomAD v4 |
| 18 | g.60371963G>C | CA402719920 | MC4R | c.387C>G (p.Ile129Met) | |
| 18 | g.60371963G>T | CA504305658 | MC4R | c.387C>A (p.Ile129=) | |
| 18 | g.60371964A>C | CA402719921 | MC4R | c.386T>G (p.Ile129Ser) | |
| 18 | g.60371964A>G | CA402719923 | MC4R | c.386T>C (p.Ile129Thr) | gnomAD v4 |
| 18 | g.60371964A>T | CA402719922 | MC4R | c.386T>A (p.Ile129Asn) | |
| 18 | g.60371965T>A | CA402719924 | MC4R | c.385A>T (p.Ile129Phe) | |
| 18 | g.60371965T>C | CA402719925 | MC4R | c.385A>G (p.Ile129Val) | gnomAD v4 |
| 18 | g.60371965T>G | CA402719926 | MC4R | c.385A>C (p.Ile129Leu) | |
| 18 | g.60371966C>A | CA301530042 | MC4R | c.384G>T (p.Val128=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371966C= | CA2307359222 | MC4R | c.384G= (p.Val128=) | |
| 18 | g.60371966C>G | CA504305666 | MC4R | c.384G>C (p.Val128=) | |
| 18 | g.60371966C>T | CA504305665 | MC4R | c.384G>A (p.Val128=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371967A>C | CA402719927 | MC4R | c.383T>G (p.Val128Gly) | |
| 18 | g.60371967A>G | CA402719928 | MC4R | c.383T>C (p.Val128Ala) | COSMIC |
| 18 | g.60371967A>T | CA402719929 | MC4R | c.383T>A (p.Val128Glu) | |
| 18 | g.60371968C>A | CA402719930 | MC4R | c.382G>T (p.Val128Leu) | |
| 18 | g.60371968C>G | CA402719931 | MC4R | c.382G>C (p.Val128Leu) | |
| 18 | g.60371968C>T | CA402719932 | MC4R | c.382G>A (p.Val128Met) | |
| 18 | g.60371969del | CA2642029305 | MC4R | c.382del (p.Val128Ter) | gnomAD v4 |
| 18 | g.60371969C>A | CA504305668 | MC4R | c.381G>T (p.Ser127=) | |
| 18 | g.60371969C= | CA2307359223 | MC4R | c.381G= (p.Ser127=) | |
| 18 | g.60371969C>G | CA301530044 | MC4R | c.381G>C (p.Ser127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371969C>T | CA301530043 | MC4R | c.381G>A (p.Ser127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371970G>A | CA210725 | MC4R | c.380C>T (p.Ser127Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371970G>C | CA402719933 | MC4R | c.380C>G (p.Ser127Trp) | dbSNP |
| 18 | g.60371970G= | CA2307359224 | MC4R | c.380C= (p.Ser127=) | |
| 18 | g.60371970G>T | CA402719934 | MC4R | c.380C>A (p.Ser127Ter) | |
| 18 | g.60371971A= | CA2307359225 | MC4R | c.379T= (p.Ser127=) | |
| 18 | g.60371971A>C | CA402719936 | MC4R | c.379T>G (p.Ser127Ala) | |
| 18 | g.60371971A>G | CA402719937 | MC4R | c.379T>C (p.Ser127Pro) | dbSNP |
| 18 | g.60371971A>T | CA402719935 | MC4R | c.379T>A (p.Ser127Thr) | |
| 18 | g.60371972G>A | CA301530045 | MC4R | c.378C>T (p.Asp126=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371972G>C | CA402719938 | MC4R | c.378C>G (p.Asp126Glu) | |
| 18 | g.60371972G= | CA2307359226 | MC4R | c.378C= (p.Asp126=) | |
| 18 | g.60371972G>T | CA402719939 | MC4R | c.378C>A (p.Asp126Glu) | |
| 18 | g.60371973T>A | CA402719940 | MC4R | c.377A>T (p.Asp126Val) | |
| 18 | g.60371973T>C | CA402719941 | MC4R | c.377A>G (p.Asp126Gly) | |
| 18 | g.60371973T>G | CA402719942 | MC4R | c.377A>C (p.Asp126Ala) | |
| 18 | g.60371974C>A | CA8980933 | MC4R | c.376G>T (p.Asp126Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371974C= | CA2307359227 | MC4R | c.376G= (p.Asp126=) | |
| 18 | g.60371974C>G | CA402719944 | MC4R | c.376G>C (p.Asp126His) | |
| 18 | g.60371974C>T | CA402719943 | MC4R | c.376G>A (p.Asp126Asn) | |
| 18 | g.60371975A>C | CA402719945 | MC4R | c.375T>G (p.Ile125Met) | |
| 18 | g.60371975A>G | CA504305671 | MC4R | c.375T>C (p.Ile125=) | gnomAD v4 |
| 18 | g.60371975A>T | CA504305673 | MC4R | c.375T>A (p.Ile125=) | gnomAD v4 |
| 18 | g.60371975_60371976delinsTT | CA2580095967 | MC4R | c.374_375delinsAA (p.Ile125Lys) | ClinVar |
| 18 | g.60371976A>C | CA402719946 | MC4R | c.374T>G (p.Ile125Ser) | |
| 18 | g.60371976A>G | CA402719947 | MC4R | c.374T>C (p.Ile125Thr) | |
| 18 | g.60371976A>T | CA402719948 | MC4R | c.374T>A (p.Ile125Asn) | gnomAD v4 |
| 18 | g.60371977T>A | CA402719949 | MC4R | c.373A>T (p.Ile125Phe) | |
| 18 | g.60371977T>C | CA402719951 | MC4R | c.373A>G (p.Ile125Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371977T>G | CA402719950 | MC4R | c.373A>C (p.Ile125Leu) | gnomAD v4 |
| 18 | g.60371977T= | CA2307359228 | MC4R | c.373A= (p.Ile125=) | |
| 18 | g.60371978G>A | CA504305677 | MC4R | c.372C>T (p.Val124=) | |
| 18 | g.60371978G>C | CA504305678 | MC4R | c.372C>G (p.Val124=) | |
| 18 | g.60371978G= | CA2307359229 | MC4R | c.372C= (p.Val124=) | |
| 18 | g.60371978G>T | CA504305679 | MC4R | c.372C>A (p.Val124=) | dbSNP gnomAD v4 |
| 18 | g.60371979A>C | CA402719952 | MC4R | c.371T>G (p.Val124Gly) | |
| 18 | g.60371979A>G | CA402719954 | MC4R | c.371T>C (p.Val124Ala) | |
| 18 | g.60371979A>T | CA402719953 | MC4R | c.371T>A (p.Val124Asp) | |
| 18 | g.60371980C>A | CA402719955 | MC4R | c.370G>T (p.Val124Phe) | |
| 18 | g.60371980C= | CA2307359230 | MC4R | c.370G= (p.Val124=) | |
| 18 | g.60371980C>G | CA402719956 | MC4R | c.370G>C (p.Val124Leu) | |
| 18 | g.60371980C>T | CA8980934 | MC4R | c.370G>A (p.Val124Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371981A>C | CA402719957 | MC4R | c.369T>G (p.Asn123Lys) | |
| 18 | g.60371981A>G | CA504305683 | MC4R | c.369T>C (p.Asn123=) | |
| 18 | g.60371981A>T | CA402719958 | MC4R | c.369T>A (p.Asn123Lys) | gnomAD v4 |
| 18 | g.60371982T>A | CA402719959 | MC4R | c.368A>T (p.Asn123Ile) | |
| 18 | g.60371982T>C | CA8980935 | MC4R | c.368A>G (p.Asn123Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371982T>G | CA402719960 | MC4R | c.368A>C (p.Asn123Thr) | |
| 18 | g.60371982T= | CA2307359231 | MC4R | c.368A= (p.Asn123=) | |
| 18 | g.60371983T>A | CA402719961 | MC4R | c.367A>T (p.Asn123Tyr) | |
| 18 | g.60371983T>C | CA402719962 | MC4R | c.367A>G (p.Asn123Asp) | |
| 18 | g.60371983T>G | CA402719963 | MC4R | c.367A>C (p.Asn123His) | |
| 18 | g.60371984A>C | CA402719964 | MC4R | c.366T>G (p.Asp122Glu) | |
| 18 | g.60371984A>G | CA504305685 | MC4R | c.366T>C (p.Asp122=) | |
| 18 | g.60371984A>T | CA402719965 | MC4R | c.366T>A (p.Asp122Glu) | |
| 18 | g.60371985T>A | CA402719966 | MC4R | c.365A>T (p.Asp122Val) | |
| 18 | g.60371985T>C | CA402719968 | MC4R | c.365A>G (p.Asp122Gly) | |
| 18 | g.60371985T>G | CA402719967 | MC4R | c.365A>C (p.Asp122Ala) | |
| 18 | g.60371986C>A | CA402719969 | MC4R | c.364G>T (p.Asp122Tyr) | gnomAD v4 |
| 18 | g.60371986C>G | CA402719970 | MC4R | c.364G>C (p.Asp122His) | dbSNP |
| 18 | g.60371986C>T | CA402719971 | MC4R | c.364G>A (p.Asp122Asn) | COSMIC |
| 18 | g.60371987A>C | CA402719972 | MC4R | c.363T>G (p.Ile121Met) | |
| 18 | g.60371987A>G | CA504305688 | MC4R | c.363T>C (p.Ile121=) | |
| 18 | g.60371987A>T | CA504305686 | MC4R | c.363T>A (p.Ile121=) | gnomAD v4 |
| 18 | g.60371988A= | CA2307359232 | MC4R | c.362T= (p.Ile121=) | |
| 18 | g.60371988A>C | CA402719973 | MC4R | c.362T>G (p.Ile121Ser) | COSMIC |
| 18 | g.60371988A>G | CA8980936 | MC4R | c.362T>C (p.Ile121Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371988A>T | CA402719974 | MC4R | c.362T>A (p.Ile121Asn) | |
| 18 | g.60371989T>A | CA402719975 | MC4R | c.361A>T (p.Ile121Phe) | |
| 18 | g.60371989T>C | CA402719976 | MC4R | c.361A>G (p.Ile121Val) | gnomAD v4 |
| 18 | g.60371989T>G | CA402719977 | MC4R | c.361A>C (p.Ile121Leu) | dbSNP |
| 18 | g.60371989T= | CA2307359233 | MC4R | c.361A= (p.Ile121=) | |
| 18 | g.60371990A= | CA2307359234 | MC4R | c.360T= (p.Asn120=) | |
| 18 | g.60371990A>C | CA402719979 | MC4R | c.360T>G (p.Asn120Lys) | |
| 18 | g.60371990A>G | CA504305689 | MC4R | c.360T>C (p.Asn120=) | dbSNP gnomAD v4 |
| 18 | g.60371990A>T | CA402719978 | MC4R | c.360T>A (p.Asn120Lys) | dbSNP gnomAD v4 |
| 18 | g.60371991T>A | CA402719980 | MC4R | c.359A>T (p.Asn120Ile) | |
| 18 | g.60371991T>C | CA402719981 | MC4R | c.359A>G (p.Asn120Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371991T>G | CA402719982 | MC4R | c.359A>C (p.Asn120Thr) | |
| 18 | g.60371991T= | CA2307359235 | MC4R | c.359A= (p.Asn120=) | |
| 18 | g.60371992T>A | CA402719983 | MC4R | c.358A>T (p.Asn120Tyr) | |
| 18 | g.60371992T>C | CA8980937 | MC4R | c.358A>G (p.Asn120Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371992T>G | CA402719984 | MC4R | c.358A>C (p.Asn120His) | |
| 18 | g.60371992T= | CA2307359236 | MC4R | c.358A= (p.Asn120=) | |
| 18 | g.60371993C>A | CA504305691 | MC4R | c.357G>T (p.Val119=) | |
| 18 | g.60371993C>G | CA504305692 | MC4R | c.357G>C (p.Val119=) | |
| 18 | g.60371993C>T | CA504305693 | MC4R | c.357G>A (p.Val119=) | |
| 18 | g.60371994A>C | CA402719985 | MC4R | c.356T>G (p.Val119Gly) | |
| 18 | g.60371994A>G | CA402719986 | MC4R | c.356T>C (p.Val119Ala) | gnomAD v4 |
| 18 | g.60371994A>T | CA402719987 | MC4R | c.356T>A (p.Val119Glu) | |
| 18 | g.60371995C>A | CA402719988 | MC4R | c.355G>T (p.Val119Leu) | |
| 18 | g.60371995C>G | CA402719989 | MC4R | c.355G>C (p.Val119Leu) | |
| 18 | g.60371995C>T | CA402719990 | MC4R | c.355G>A (p.Val119Met) | |
| 18 | g.60371996T>A | CA504305694 | MC4R | c.354A>T (p.Thr118=) | |
| 18 | g.60371996T>C | CA504305695 | MC4R | c.354A>G (p.Thr118=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371996T>G | CA504305696 | MC4R | c.354A>C (p.Thr118=) | gnomAD v4 |
| 18 | g.60371996T= | CA2307359237 | MC4R | c.354A= (p.Thr118=) | |
| 18 | g.60371997G>A | CA402719992 | MC4R | c.353C>T (p.Thr118Ile) | gnomAD v4 |
| 18 | g.60371997G>C | CA402719993 | MC4R | c.353C>G (p.Thr118Arg) | |
| 18 | g.60371997G>T | CA402719991 | MC4R | c.353C>A (p.Thr118Lys) | |
| 18 | g.60371998T>A | CA402719994 | MC4R | c.352A>T (p.Thr118Ser) | |
| 18 | g.60371998T>C | CA402719995 | MC4R | c.352A>G (p.Thr118Ala) | |
| 18 | g.60371998T>G | CA402719996 | MC4R | c.352A>C (p.Thr118Pro) | |
| 18 | g.60371999G>A | CA504305700 | MC4R | c.351C>T (p.Phe117=) | |
| 18 | g.60371999G>C | CA402719997 | MC4R | c.351C>G (p.Phe117Leu) | |
| 18 | g.60371999G>T | CA402719998 | MC4R | c.351C>A (p.Phe117Leu) | |
| 18 | g.60372000A>C | CA402720001 | MC4R | c.350T>G (p.Phe117Cys) | |
| 18 | g.60372000A>G | CA402719999 | MC4R | c.350T>C (p.Phe117Ser) | |
| 18 | g.60372000A>T | CA402720000 | MC4R | c.350T>A (p.Phe117Tyr) | |
| 18 | g.60372001A>C | CA402720002 | MC4R | c.349T>G (p.Phe117Val) | |
| 18 | g.60372001A>G | CA402720003 | MC4R | c.349T>C (p.Phe117Leu) | |
| 18 | g.60372001A>T | CA402720004 | MC4R | c.349T>A (p.Phe117Ile) | |
| 18 | g.60372002A>C | CA402720005 | MC4R | c.348T>G (p.Ser116Arg) | |
| 18 | g.60372002A>G | CA504305701 | MC4R | c.348T>C (p.Ser116=) | |
| 18 | g.60372002A>T | CA402720006 | MC4R | c.348T>A (p.Ser116Arg) | |
| 18 | g.60372002_60372004delinsACT | CA2307359238 | MC4R | c.346_348delinsAGT (p.Ser116=) | |
| 18 | g.60372003C>A | CA402720009 | MC4R | c.347G>T (p.Ser116Ile) | |
| 18 | g.60372003C>G | CA402720008 | MC4R | c.347G>C (p.Ser116Thr) | |
| 18 | g.60372003C>T | CA402720007 | MC4R | c.347G>A (p.Ser116Asn) | |
| 18 | g.60372005_60372006del | CA781032640 | MC4R | c.346_347del (p.Ser116PhefsTer6) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60372004T>A | CA402720010 | MC4R | c.346A>T (p.Ser116Cys) | |
| 18 | g.60372004T>C | CA402720012 | MC4R | c.346A>G (p.Ser116Gly) | |
| 18 | g.60372004T>G | CA402720011 | MC4R | c.346A>C (p.Ser116Arg) | |
| 18 | g.60372005C>A | CA402720013 | MC4R | c.345G>T (p.Gln115His) | |
| 18 | g.60372005C= | CA2307359240 | MC4R | c.345G= (p.Gln115=) | |
| 18 | g.60372005C>G | CA402720014 | MC4R | c.345G>C (p.Gln115His) | dbSNP gnomAD v4 |
| 18 | g.60372005C>T | CA504305702 | MC4R | c.345G>A (p.Gln115=) | gnomAD v4 |
| 18 | g.60372005_60372007delinsCTG | CA2307359239 | MC4R | c.343_345delinsCAG (p.Gln115=) | |
| 18 | g.60372006T>A | CA402720015 | MC4R | c.344A>T (p.Gln115Leu) | |
| 18 | g.60372006T>C | CA402720016 | MC4R | c.344A>G (p.Gln115Arg) | gnomAD v4 |
| 18 | g.60372006T>G | CA402720017 | MC4R | c.344A>C (p.Gln115Pro) | |
| 18 | g.60372008_60372009del | CA630399121 | MC4R | c.343_344del (p.Gln115GlufsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372007G>A | CA402720018 | MC4R | c.343C>T (p.Gln115Ter) | |
| 18 | g.60372007G>C | CA402720019 | MC4R | c.343C>G (p.Gln115Glu) | |
| 18 | g.60372007G>T | CA402720020 | MC4R | c.343C>A (p.Gln115Lys) | |
| 18 | g.60372008T>A | CA504305705 | MC4R | c.342A>T (p.Ala114=) | |
| 18 | g.60372008T>C | CA504305706 | MC4R | c.342A>G (p.Ala114=) | |
| 18 | g.60372008T>G | CA504305707 | MC4R | c.342A>C (p.Ala114=) | |
| 18 | g.60372009G>A | CA402720021 | MC4R | c.341C>T (p.Ala114Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60372009G>C | CA402720022 | MC4R | c.341C>G (p.Ala114Gly) | |
| 18 | g.60372009G= | CA2307359241 | MC4R | c.341C= (p.Ala114=) | |
| 18 | g.60372009G>T | CA402720023 | MC4R | c.341C>A (p.Ala114Glu) | gnomAD v4 |
| 18 | g.60372010C>A | CA402720024 | MC4R | c.340G>T (p.Ala114Ser) | |
| 18 | g.60372010C>G | CA402720025 | MC4R | c.340G>C (p.Ala114Pro) | |
| 18 | g.60372010C>T | CA402720026 | MC4R | c.340G>A (p.Ala114Thr) | gnomAD v4 |
| 18 | g.60372011A>C | CA402720028 | MC4R | c.339T>G (p.Asp113Glu) | |
| 18 | g.60372011A>G | CA504305708 | MC4R | c.339T>C (p.Asp113=) | |
| 18 | g.60372011A>T | CA402720027 | MC4R | c.339T>A (p.Asp113Glu) | |
| 18 | g.60372012T>A | CA402720029 | MC4R | c.338A>T (p.Asp113Val) | |
| 18 | g.60372012T>C | CA402720030 | MC4R | c.338A>G (p.Asp113Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372012T>G | CA402720031 | MC4R | c.338A>C (p.Asp113Ala) | |
| 18 | g.60372012T= | CA2307359242 | MC4R | c.338A= (p.Asp113=) | |
| 18 | g.60372013C>A | CA402720032 | MC4R | c.337G>T (p.Asp113Tyr) | |
| 18 | g.60372013C= | CA2307359243 | MC4R | c.337G= (p.Asp113=) | |
| 18 | g.60372013C>G | CA402720033 | MC4R | c.337G>C (p.Asp113His) | |
| 18 | g.60372013C>T | CA402720034 | MC4R | c.337G>A (p.Asp113Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60372014C>A | CA504305711 | MC4R | c.336G>T (p.Thr112=) | dbSNP |
| 18 | g.60372014C= | CA2307359244 | MC4R | c.336G= (p.Thr112=) | |
| 18 | g.60372014C>G | CA504305710 | MC4R | c.336G>C (p.Thr112=) | |
| 18 | g.60372014C>T | CA8980938 | MC4R | c.336G>A (p.Thr112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372015G>A | CA8980939 | MC4R | c.335C>T (p.Thr112Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60372015G>C | CA402720035 | MC4R | c.335C>G (p.Thr112Arg) | dbSNP gnomAD v4 |
| 18 | g.60372015G= | CA2307359245 | MC4R | c.335C= (p.Thr112=) | |
| 18 | g.60372015G>T | CA402720036 | MC4R | c.335C>A (p.Thr112Lys) | |
| 18 | g.60372016T>A | CA402720037 | MC4R | c.334A>T (p.Thr112Ser) | |
| 18 | g.60372016T>C | CA402720038 | MC4R | c.334A>G (p.Thr112Ala) | gnomAD v4 |
| 18 | g.60372016T>G | CA402720039 | MC4R | c.334A>C (p.Thr112Pro) | |
| 18 | g.60372016dup | CA2307359246 | MC4R | c.334dup (p.Thr112AsnfsTer11) | dbSNP gnomAD v4 |
| 18 | g.60372017A>C | CA402720040 | MC4R | c.333T>G (p.Asp111Glu) | |
| 18 | g.60372017A>G | CA504305712 | MC4R | c.333T>C (p.Asp111=) | gnomAD v4 |
| 18 | g.60372017A>T | CA402720041 | MC4R | c.333T>A (p.Asp111Glu) | |
| 18 | g.60372018T>A | CA402720042 | MC4R | c.332A>T (p.Asp111Val) | gnomAD v4 |
| 18 | g.60372018T>C | CA402720043 | MC4R | c.332A>G (p.Asp111Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60372018T>G | CA402720044 | MC4R | c.332A>C (p.Asp111Ala) | |
| 18 | g.60372018T= | CA2307359247 | MC4R | c.332A= (p.Asp111=) | |
| 18 | g.60372019C>A | CA402720045 | MC4R | c.331G>T (p.Asp111Tyr) | COSMIC |
| 18 | g.60372019C>G | CA402720046 | MC4R | c.331G>C (p.Asp111His) | |
| 18 | g.60372019C>T | CA402720047 | MC4R | c.331G>A (p.Asp111Asn) | |
| 18 | g.60372020T>A | CA504305714 | MC4R | c.330A>T (p.Thr110=) | |
| 18 | g.60372020T>C | CA504305715 | MC4R | c.330A>G (p.Thr110=) | |
| 18 | g.60372020T>G | CA504305716 | MC4R | c.330A>C (p.Thr110=) | |
| 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) |