Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371369_60371372del | CA2642029293 | MC4R | c.979_982del (p.Asp327CysfsTer27) c.979_982del (p.Asp327CysfsTer?) | gnomAD v4 |
18 | g.60371371C>A | CA402718673 | MC4R | c.979G>T (p.Asp327Tyr) | gnomAD v4 |
18 | g.60371371C>G | CA402718674 | MC4R | c.979G>C (p.Asp327His) | |
18 | g.60371371C>T | CA402718675 | MC4R | c.979G>A (p.Asp327Asn) | COSMIC |
18 | g.60371372A= | CA2307358923 | MC4R | c.978T= (p.Cys326=) | |
18 | g.60371372A>C | CA402718676 | MC4R | c.978T>G (p.Cys326Trp) | |
18 | g.60371372A>G | CA504304958 | MC4R | c.978T>C (p.Cys326=) | |
18 | g.60371372A>T | CA8980798 | MC4R | c.978T>A (p.Cys326Ter) | dbSNP ExAC gnomAD v2 |
18 | g.60371373C>A | CA402718677 | MC4R | c.977G>T (p.Cys326Phe) | |
18 | g.60371373C>G | CA402718679 | MC4R | c.977G>C (p.Cys326Ser) | |
18 | g.60371373C>T | CA402718678 | MC4R | c.977G>A (p.Cys326Tyr) | |
18 | g.60371374A= | CA2307358924 | MC4R | c.976T= (p.Cys326=) | |
18 | g.60371374A>C | CA402718680 | MC4R | c.976T>G (p.Cys326Gly) | |
18 | g.60371374A>G | CA402718682 | MC4R | c.976T>C (p.Cys326Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.60371374A>T | CA402718681 | MC4R | c.976T>A (p.Cys326Ser) | |
18 | g.60371376del | CA2695227728 | MC4R | c.976del (p.Cys326ValfsTer29) c.976del (p.Cys326ValfsTer?) | dbSNP |
18 | g.60371375A= | CA2307358925 | MC4R | c.975T= (p.Leu325=) | |
18 | g.60371375A>C | CA504304963 | MC4R | c.975T>G (p.Leu325=) | |
18 | g.60371375A>G | CA504304965 | MC4R | c.975T>C (p.Leu325=) | |
18 | g.60371375A>T | CA504304967 | MC4R | c.975T>A (p.Leu325=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371376A>C | CA402718683 | MC4R | c.974T>G (p.Leu325Arg) | |
18 | g.60371376A>G | CA402718684 | MC4R | c.974T>C (p.Leu325Pro) | COSMIC |
18 | g.60371376A>T | CA402718685 | MC4R | c.974T>A (p.Leu325His) | |
18 | g.60371377G>A | CA402718686 | MC4R | c.973C>T (p.Leu325Phe) | dbSNP gnomAD v4 |
18 | g.60371377G>C | CA402718687 | MC4R | c.973C>G (p.Leu325Val) | |
18 | g.60371377G= | CA2307358926 | MC4R | c.973C= (p.Leu325=) | |
18 | g.60371377G>T | CA402718688 | MC4R | c.973C>A (p.Leu325Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.60371378G>A | CA206129 | MC4R | c.972C>T (p.Gly324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371378G>C | CA301530000 | MC4R | c.972C>G (p.Gly324=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371378G= | CA2307358927 | MC4R | c.972C= (p.Gly324=) | |
18 | g.60371378G>T | CA504304972 | MC4R | c.972C>A (p.Gly324=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60371379C>A | CA402718689 | MC4R | c.971G>T (p.Gly324Val) | |
18 | g.60371379C= | CA2307358928 | MC4R | c.971G= (p.Gly324=) | |
18 | g.60371379C>G | CA402718690 | MC4R | c.971G>C (p.Gly324Ala) | |
18 | g.60371379C>T | CA8980799 | MC4R | c.971G>A (p.Gly324Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371380C>A | CA402718691 | MC4R | c.970G>T (p.Gly324Cys) | |
18 | g.60371380C= | CA2307358929 | MC4R | c.970G= (p.Gly324=) | |
18 | g.60371380C>G | CA402718692 | MC4R | c.970G>C (p.Gly324Arg) | |
18 | g.60371380C>T | CA301530001 | MC4R | c.970G>A (p.Gly324Ser) | dbSNP |
18 | g.60371381T>A | CA504304979 | MC4R | c.969A>T (p.Gly323=) | |
18 | g.60371381T>C | CA8980800 | MC4R | c.969A>G (p.Gly323=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371381T>G | CA504304980 | MC4R | c.969A>C (p.Gly323=) | |
18 | g.60371381T= | CA2307358930 | MC4R | c.969A= (p.Gly323=) | |
18 | g.60371382C>A | CA301530003 | MC4R | c.968G>T (p.Gly323Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371382C= | CA2307358931 | MC4R | c.968G= (p.Gly323=) | |
18 | g.60371382C>G | CA402718693 | MC4R | c.968G>C (p.Gly323Ala) | |
18 | g.60371382C>T | CA301530002 | MC4R | c.968G>A (p.Gly323Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371383C>A | CA402718694 | MC4R | c.967G>T (p.Gly323Ter) | |
18 | g.60371383C= | CA2307358932 | MC4R | c.967G= (p.Gly323=) | |
18 | g.60371383C>G | CA402718695 | MC4R | c.967G>C (p.Gly323Arg) | |
18 | g.60371383C>T | CA301530004 | MC4R | c.967G>A (p.Gly323Arg) | dbSNP |
18 | g.60371384C>A | CA504304986 | MC4R | c.966G>T (p.Leu322=) | |
18 | g.60371384C>G | CA504304984 | MC4R | c.966G>C (p.Leu322=) | |
18 | g.60371384C>T | CA504304985 | MC4R | c.966G>A (p.Leu322=) | |
18 | g.60371385A>C | CA402718696 | MC4R | c.965T>G (p.Leu322Arg) | |
18 | g.60371385A>G | CA402718697 | MC4R | c.965T>C (p.Leu322Pro) | |
18 | g.60371385A>T | CA402718698 | MC4R | c.965T>A (p.Leu322Gln) | |
18 | g.60371386G>A | CA504304989 | MC4R | c.964C>T (p.Leu322=) | |
18 | g.60371386G>C | CA402718699 | MC4R | c.964C>G (p.Leu322Val) | gnomAD v4 |
18 | g.60371386G>T | CA402718700 | MC4R | c.964C>A (p.Leu322Met) | |
18 | g.60371387G>A | CA504304991 | MC4R | c.963C>T (p.Pro321=) | gnomAD v4 |
18 | g.60371387G>C | CA504304992 | MC4R | c.963C>G (p.Pro321=) | |
18 | g.60371387G>T | CA504304993 | MC4R | c.963C>A (p.Pro321=) | |
18 | g.60371388G>A | CA402718701 | MC4R | c.962C>T (p.Pro321Leu) | |
18 | g.60371388G>C | CA402718702 | MC4R | c.962C>G (p.Pro321Arg) | |
18 | g.60371388G>T | CA402718703 | MC4R | c.962C>A (p.Pro321His) | |
18 | g.60371389G>A | CA8980801 | MC4R | c.961C>T (p.Pro321Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371389G>C | CA402718705 | MC4R | c.961C>G (p.Pro321Ala) | |
18 | g.60371389G= | CA2307358934 | MC4R | c.961C= (p.Pro321=) | |
18 | g.60371389G>T | CA402718704 | MC4R | c.961C>A (p.Pro321Thr) | gnomAD v4 |
18 | g.60371389_60371390delinsGA | CA2307358933 | MC4R | c.960_961delinsTC (p.Tyr320=) | |
18 | g.60371390del | CA301530005 | MC4R | c.960del (p.Leu322TrpfsTer?) | dbSNP gnomAD v4 |
18 | g.60371390A>C | CA402718706 | MC4R | c.960T>G (p.Tyr320Ter) | |
18 | g.60371390A>G | CA504305000 | MC4R | c.960T>C (p.Tyr320=) | gnomAD v4 |
18 | g.60371390A>T | CA402718707 | MC4R | c.960T>A (p.Tyr320Ter) | |
18 | g.60371391T>A | CA402718708 | MC4R | c.959A>T (p.Tyr320Phe) | gnomAD v4 |
18 | g.60371391T>C | CA402718709 | MC4R | c.959A>G (p.Tyr320Cys) | gnomAD v4 |
18 | g.60371391T>G | CA402718710 | MC4R | c.959A>C (p.Tyr320Ser) | |
18 | g.60371392A= | CA2307358935 | MC4R | c.958T= (p.Tyr320=) | |
18 | g.60371392A>C | CA402718711 | MC4R | c.958T>G (p.Tyr320Asp) | |
18 | g.60371392A>G | CA301530006 | MC4R | c.958T>C (p.Tyr320His) | dbSNP |
18 | g.60371392A>T | CA402718712 | MC4R | c.958T>A (p.Tyr320Asn) | |
18 | g.60371393G>A | CA504305003 | MC4R | c.957C>T (p.Cys319=) | |
18 | g.60371393G>C | CA402718713 | MC4R | c.957C>G (p.Cys319Trp) | |
18 | g.60371393G>T | CA402718714 | MC4R | c.957C>A (p.Cys319Ter) | |
18 | g.60371394C>A | CA402718717 | MC4R | c.956G>T (p.Cys319Phe) | |
18 | g.60371394C>G | CA402718716 | MC4R | c.956G>C (p.Cys319Ser) | |
18 | g.60371394C>T | CA402718715 | MC4R | c.956G>A (p.Cys319Tyr) | |
18 | g.60371395A>C | CA402718718 | MC4R | c.955T>G (p.Cys319Gly) | |
18 | g.60371395A>G | CA402718719 | MC4R | c.955T>C (p.Cys319Arg) | |
18 | g.60371395A>T | CA402718720 | MC4R | c.955T>A (p.Cys319Ser) | |
18 | g.60371396A= | CA2307358936 | MC4R | c.954T= (p.Cys318=) | |
18 | g.60371396A>C | CA402718721 | MC4R | c.954T>G (p.Cys318Trp) | |
18 | g.60371396A>G | CA8980802 | MC4R | c.954T>C (p.Cys318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371396A>T | CA402718722 | MC4R | c.954T>A (p.Cys318Ter) | |
18 | g.60371397C>A | CA402718723 | MC4R | c.953G>T (p.Cys318Phe) | |
18 | g.60371397C>G | CA402718724 | MC4R | c.953G>C (p.Cys318Ser) | |
18 | g.60371397C>T | CA402718725 | MC4R | c.953G>A (p.Cys318Tyr) | |
18 | g.60371398A>C | CA402718726 | MC4R | c.952T>G (p.Cys318Gly) | |
18 | g.60371398A>G | CA402718727 | MC4R | c.952T>C (p.Cys318Arg) | COSMIC |
18 | g.60371398A>T | CA402718728 | MC4R | c.952T>A (p.Cys318Ser) | |
18 | g.60371399G>A | CA504305019 | MC4R | c.951C>T (p.Ile317=) | |
18 | g.60371399G>C | CA402718729 | MC4R | c.951C>G (p.Ile317Met) | |
18 | g.60371399G>T | CA504305021 | MC4R | c.951C>A (p.Ile317=) | |
18 | g.60371400A= | CA2307358937 | MC4R | c.950T= (p.Ile317=) | |
18 | g.60371400A>C | CA402718731 | MC4R | c.950T>G (p.Ile317Ser) | dbSNP |
18 | g.60371400A>G | CA8980803 | MC4R | c.950T>C (p.Ile317Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371400A>T | CA402718730 | MC4R | c.950T>A (p.Ile317Asn) | |
18 | g.60371401T>A | CA8980805 | MC4R | c.949A>T (p.Ile317Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371401T>C | CA8980804 | MC4R | c.949A>G (p.Ile317Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371401T>G | CA402718732 | MC4R | c.949A>C (p.Ile317Leu) | |
18 | g.60371401T= | CA2307358938 | MC4R | c.949A= (p.Ile317=) | |
18 | g.60371401_60371402delinsTG | CA2307358939 | MC4R | c.948_949delinsCA (p.Ile316=) | |
18 | g.60371402del | CA2307358940 | MC4R | c.948del (p.Ile317SerfsTer?) | dbSNP |
18 | g.60371402G>A | CA504305024 | MC4R | c.948C>T (p.Ile316=) | COSMIC |
18 | g.60371402G>C | CA402718733 | MC4R | c.948C>G (p.Ile316Met) | |
18 | g.60371402G>T | CA504305025 | MC4R | c.948C>A (p.Ile316=) | |
18 | g.60371403A= | CA2307358941 | MC4R | c.947T= (p.Ile316=) | |
18 | g.60371403A>C | CA210720 | MC4R | c.947T>G (p.Ile316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371403A>G | CA402718734 | MC4R | c.947T>C (p.Ile316Thr) | |
18 | g.60371403A>T | CA402718735 | MC4R | c.947T>A (p.Ile316Asn) | dbSNP |
18 | g.60371404T>A | CA402718736 | MC4R | c.946A>T (p.Ile316Phe) | |
18 | g.60371404T>C | CA402718737 | MC4R | c.946A>G (p.Ile316Val) | |
18 | g.60371404T>G | CA402718738 | MC4R | c.946A>C (p.Ile316Leu) | |
18 | g.60371405C>A | CA402718739 | MC4R | c.945G>T (p.Glu315Asp) | |
18 | g.60371405C= | CA2307358942 | MC4R | c.945G= (p.Glu315=) | |
18 | g.60371405C>G | CA402718740 | MC4R | c.945G>C (p.Glu315Asp) | dbSNP gnomAD v4 |
18 | g.60371405C>T | CA504305030 | MC4R | c.945G>A (p.Glu315=) | |
18 | g.60371408_60371435del | CA2642029294 | MC4R | c.918_945del (p.Ser306ArgfsTer?) | gnomAD v4 |
18 | g.60371406T>A | CA402718743 | MC4R | c.944A>T (p.Glu315Val) | |
18 | g.60371406T>C | CA402718741 | MC4R | c.944A>G (p.Glu315Gly) | |
18 | g.60371406T>G | CA402718742 | MC4R | c.944A>C (p.Glu315Ala) | |
18 | g.60371407C>A | CA402718744 | MC4R | c.943G>T (p.Glu315Ter) | |
18 | g.60371407C>G | CA402718745 | MC4R | c.943G>C (p.Glu315Gln) | |
18 | g.60371407C>T | CA402718746 | MC4R | c.943G>A (p.Glu315Lys) | gnomAD v4 |
18 | g.60371408T>A | CA402718747 | MC4R | c.942A>T (p.Lys314Asn) | |
18 | g.60371408T>C | CA504305034 | MC4R | c.942A>G (p.Lys314=) | |
18 | g.60371408T>G | CA402718748 | MC4R | c.942A>C (p.Lys314Asn) | |
18 | g.60371409T>A | CA402718749 | MC4R | c.941A>T (p.Lys314Ile) | |
18 | g.60371409T>C | CA402718750 | MC4R | c.941A>G (p.Lys314Arg) | COSMIC |
18 | g.60371409T>G | CA402718751 | MC4R | c.941A>C (p.Lys314Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60371409T= | CA2307358943 | MC4R | c.941A= (p.Lys314=) | |
18 | g.60371410T>A | CA402718752 | MC4R | c.940A>T (p.Lys314Ter) | |
18 | g.60371410T>C | CA402718753 | MC4R | c.940A>G (p.Lys314Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371410T>G | CA402718754 | MC4R | c.940A>C (p.Lys314Gln) | |
18 | g.60371410T= | CA2307358944 | MC4R | c.940A= (p.Lys314=) | |
18 | g.60371411G>A | CA504305038 | MC4R | c.939C>T (p.Phe313=) | |
18 | g.60371411G>C | CA402718755 | MC4R | c.939C>G (p.Phe313Leu) | |
18 | g.60371411G>T | CA402718756 | MC4R | c.939C>A (p.Phe313Leu) | |
18 | g.60371412A>C | CA402718757 | MC4R | c.938T>G (p.Phe313Cys) | |
18 | g.60371412A>G | CA402718759 | MC4R | c.938T>C (p.Phe313Ser) | |
18 | g.60371412A>T | CA402718758 | MC4R | c.938T>A (p.Phe313Tyr) | |
18 | g.60371413del | CA2695227729 | MC4R | c.938del (p.Phe313SerfsTer?) | |
18 | g.60371413A= | CA2307358945 | MC4R | c.937T= (p.Phe313=) | |
18 | g.60371413A>C | CA402718760 | MC4R | c.937T>G (p.Phe313Val) | |
18 | g.60371413A>G | CA402718761 | MC4R | c.937T>C (p.Phe313Leu) | dbSNP |
18 | g.60371413A>T | CA402718762 | MC4R | c.937T>A (p.Phe313Ile) | |
18 | g.60371414G>A | CA504305041 | MC4R | c.936C>T (p.Thr312=) | gnomAD v4 |
18 | g.60371414G>C | CA504305042 | MC4R | c.936C>G (p.Thr312=) | |
18 | g.60371414G>T | CA504305043 | MC4R | c.936C>A (p.Thr312=) | |
18 | g.60371415G>A | CA402718763 | MC4R | c.935C>T (p.Thr312Ile) | |
18 | g.60371415G>C | CA402718764 | MC4R | c.935C>G (p.Thr312Ser) | ClinVar dbSNP |
18 | g.60371415G= | CA2307358946 | MC4R | c.935C= (p.Thr312=) | |
18 | g.60371415G>T | CA402718765 | MC4R | c.935C>A (p.Thr312Asn) | |
18 | g.60371416T>A | CA402718766 | MC4R | c.934A>T (p.Thr312Ser) | |
18 | g.60371416T>C | CA402718767 | MC4R | c.934A>G (p.Thr312Ala) | |
18 | g.60371416T>G | CA402718768 | MC4R | c.934A>C (p.Thr312Pro) | |
18 | g.60371417T>A | CA402718769 | MC4R | c.933A>T (p.Lys311Asn) | |
18 | g.60371417T>C | CA504305046 | MC4R | c.933A>G (p.Lys311=) | |
18 | g.60371417T>G | CA402718770 | MC4R | c.933A>C (p.Lys311Asn) | |
18 | g.60371418T>A | CA402718773 | MC4R | c.932A>T (p.Lys311Ile) | |
18 | g.60371418T>C | CA402718772 | MC4R | c.932A>G (p.Lys311Arg) | |
18 | g.60371418T>G | CA402718771 | MC4R | c.932A>C (p.Lys311Thr) | |
18 | g.60371419T>A | CA402718774 | MC4R | c.931A>T (p.Lys311Ter) | |
18 | g.60371419T>C | CA402718775 | MC4R | c.931A>G (p.Lys311Glu) | |
18 | g.60371419T>G | CA402718776 | MC4R | c.931A>C (p.Lys311Gln) | COSMIC COSMIC |
18 | g.60371420C>A | CA402718777 | MC4R | c.930G>T (p.Arg310Ser) | |
18 | g.60371420C>G | CA402718778 | MC4R | c.930G>C (p.Arg310Ser) | |
18 | g.60371420C>T | CA504305051 | MC4R | c.930G>A (p.Arg310=) | gnomAD v4 |
18 | g.60371421C>A | CA402718779 | MC4R | c.929G>T (p.Arg310Met) | |
18 | g.60371421C= | CA2307358947 | MC4R | c.929G= (p.Arg310=) | |
18 | g.60371421C>G | CA402718780 | MC4R | c.929G>C (p.Arg310Thr) | |
18 | g.60371421C>T | CA402718781 | MC4R | c.929G>A (p.Arg310Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371422T>A | CA402718782 | MC4R | c.928A>T (p.Arg310Trp) | |
18 | g.60371422T>C | CA402718783 | MC4R | c.928A>G (p.Arg310Gly) | |
18 | g.60371422T>G | CA504305053 | MC4R | c.928A>C (p.Arg310=) | |
18 | g.60371423C>A | CA504305054 | MC4R | c.927G>T (p.Leu309=) | dbSNP |
18 | g.60371423C= | CA2307358948 | MC4R | c.927G= (p.Leu309=) | |
18 | g.60371423C>G | CA504305055 | MC4R | c.927G>C (p.Leu309=) | |
18 | g.60371423C>T | CA504305056 | MC4R | c.927G>A (p.Leu309=) | |
18 | g.60371424A>C | CA402718784 | MC4R | c.926T>G (p.Leu309Arg) | |
18 | g.60371424A>G | CA402718785 | MC4R | c.926T>C (p.Leu309Pro) | |
18 | g.60371424A>T | CA402718786 | MC4R | c.926T>A (p.Leu309Gln) | |
18 | g.60371425G>A | CA504305059 | MC4R | c.925C>T (p.Leu309=) | |
18 | g.60371425G>C | CA402718787 | MC4R | c.925C>G (p.Leu309Val) | |
18 | g.60371425G>T | CA402718788 | MC4R | c.925C>A (p.Leu309Met) | |
18 | g.60371426T>A | CA402718789 | MC4R | c.924A>T (p.Glu308Asp) | |
18 | g.60371426T>C | CA504305061 | MC4R | c.924A>G (p.Glu308=) | |
18 | g.60371426T>G | CA402718790 | MC4R | c.924A>C (p.Glu308Asp) | |
18 | g.60371427T>A | CA8980806 | MC4R | c.923A>T (p.Glu308Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371427T>C | CA402718791 | MC4R | c.923A>G (p.Glu308Gly) | |
18 | g.60371427T>G | CA402718792 | MC4R | c.923A>C (p.Glu308Ala) | |
18 | g.60371427T= | CA2307358949 | MC4R | c.923A= (p.Glu308=) | |
18 | g.60371428C>A | CA402718793 | MC4R | c.922G>T (p.Glu308Ter) | |
18 | g.60371428C= | CA2307358950 | MC4R | c.922G= (p.Glu308=) | |
18 | g.60371428C>G | CA402718794 | MC4R | c.922G>C (p.Glu308Gln) | |
18 | g.60371428C>T | CA301530007 | MC4R | c.922G>A (p.Glu308Lys) | dbSNP gnomAD v2 gnomAD v3 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) | ClinVar 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 |