SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371860T>A | CA402719696 | MC4R | c.490A>T (p.Lys164Ter) | |
| 18 | g.60371860T>C | CA402719697 | MC4R | c.490A>G (p.Lys164Glu) | |
| 18 | g.60371860T>G | CA402719698 | MC4R | c.490A>C (p.Lys164Gln) | gnomAD v4 |
| 18 | g.60371861A>C | CA504305417 | MC4R | c.489T>G (p.Val163=) | |
| 18 | g.60371861A>G | CA504305418 | MC4R | c.489T>C (p.Val163=) | |
| 18 | g.60371861A>T | CA504305420 | MC4R | c.489T>A (p.Val163=) | |
| 18 | g.60371862A>C | CA402719699 | MC4R | c.488T>G (p.Val163Gly) | |
| 18 | g.60371862A>G | CA402719700 | MC4R | c.488T>C (p.Val163Ala) | |
| 18 | g.60371862A>T | CA402719701 | MC4R | c.488T>A (p.Val163Asp) | |
| 18 | g.60371863C>A | CA402719702 | MC4R | c.487G>T (p.Val163Phe) | |
| 18 | g.60371863C>G | CA402719703 | MC4R | c.487G>C (p.Val163Leu) | |
| 18 | g.60371863C>T | CA402719704 | MC4R | c.487G>A (p.Val163Ile) | ClinVar gnomAD v4 |
| 18 | g.60371864T>A | CA504305425 | MC4R | c.486A>T (p.Thr162=) | dbSNP |
| 18 | g.60371864T>C | CA504305426 | MC4R | c.486A>G (p.Thr162=) | |
| 18 | g.60371864T>G | CA504305427 | MC4R | c.486A>C (p.Thr162=) | |
| 18 | g.60371864T= | CA2307359174 | MC4R | c.486A= (p.Thr162=) | |
| 18 | g.60371865G>A | CA402719705 | MC4R | c.485C>T (p.Thr162Ile) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371865G>C | CA402719706 | MC4R | c.485C>G (p.Thr162Arg) | gnomAD v4 |
| 18 | g.60371865G= | CA2307359175 | MC4R | c.485C= (p.Thr162=) | |
| 18 | g.60371865G>T | CA402719707 | MC4R | c.485C>A (p.Thr162Lys) | |
| 18 | g.60371866T>A | CA402719709 | MC4R | c.484A>T (p.Thr162Ser) | gnomAD v4 |
| 18 | g.60371866T>C | CA402719710 | MC4R | c.484A>G (p.Thr162Ala) | |
| 18 | g.60371866T>G | CA402719708 | MC4R | c.484A>C (p.Thr162Pro) | |
| 18 | g.60371867C>A | CA402719711 | MC4R | c.483G>T (p.Met161Ile) | gnomAD v4 |
| 18 | g.60371867C>G | CA402719712 | MC4R | c.483G>C (p.Met161Ile) | COSMIC |
| 18 | g.60371867C>T | CA402719713 | MC4R | c.483G>A (p.Met161Ile) | gnomAD v4 |
| 18 | g.60371868A= | CA2307359176 | MC4R | c.482T= (p.Met161=) | |
| 18 | g.60371868A>C | CA402719714 | MC4R | c.482T>G (p.Met161Arg) | |
| 18 | g.60371868A>G | CA8980912 | MC4R | c.482T>C (p.Met161Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371868A>T | CA402719715 | MC4R | c.482T>A (p.Met161Lys) | gnomAD v4 |
| 18 | g.60371869T>A | CA402719716 | MC4R | c.481A>T (p.Met161Leu) | |
| 18 | g.60371869T>C | CA402719718 | MC4R | c.481A>G (p.Met161Val) | |
| 18 | g.60371869T>G | CA402719717 | MC4R | c.481A>C (p.Met161Leu) | |
| 18 | g.60371870A>C | CA402719719 | MC4R | c.480T>G (p.Ile160Met) | |
| 18 | g.60371870A>G | CA504305434 | MC4R | c.480T>C (p.Ile160=) | gnomAD v4 |
| 18 | g.60371870A>T | CA504305436 | MC4R | c.480T>A (p.Ile160=) | |
| 18 | g.60371871A= | CA2307359177 | MC4R | c.479T= (p.Ile160=) | |
| 18 | g.60371871A>C | CA402719720 | MC4R | c.479T>G (p.Ile160Ser) | |
| 18 | g.60371871A>G | CA8980913 | MC4R | c.479T>C (p.Ile160Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371871A>T | CA402719721 | MC4R | c.479T>A (p.Ile160Asn) | |
| 18 | g.60371872T>A | CA402719722 | MC4R | c.478A>T (p.Ile160Phe) | |
| 18 | g.60371872T>C | CA402719724 | MC4R | c.478A>G (p.Ile160Val) | gnomAD v4 |
| 18 | g.60371872T>G | CA402719723 | MC4R | c.478A>C (p.Ile160Leu) | |
| 18 | g.60371873G>A | CA504305442 | MC4R | c.477C>T (p.Asn159=) | |
| 18 | g.60371873G>C | CA402719725 | MC4R | c.477C>G (p.Asn159Lys) | gnomAD v4 |
| 18 | g.60371873G>T | CA402719726 | MC4R | c.477C>A (p.Asn159Lys) | |
| 18 | g.60371874T>A | CA402719727 | MC4R | c.476A>T (p.Asn159Ile) | |
| 18 | g.60371874T>C | CA402719728 | MC4R | c.476A>G (p.Asn159Ser) | COSMIC |
| 18 | g.60371874T>G | CA402719729 | MC4R | c.476A>C (p.Asn159Thr) | |
| 18 | g.60371875T>A | CA402719730 | MC4R | c.475A>T (p.Asn159Tyr) | |
| 18 | g.60371875T>C | CA402719731 | MC4R | c.475A>G (p.Asn159Asp) | gnomAD v4 |
| 18 | g.60371875T>G | CA402719732 | MC4R | c.475A>C (p.Asn159His) | |
| 18 | g.60371876A= | CA2307359178 | MC4R | c.474T= (p.His158=) | |
| 18 | g.60371876A>C | CA402719733 | MC4R | c.474T>G (p.His158Gln) | |
| 18 | g.60371876A>G | CA8980914 | MC4R | c.474T>C (p.His158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371876A>T | CA402719734 | MC4R | c.474T>A (p.His158Gln) | |
| 18 | g.60371877T>A | CA402719735 | MC4R | c.473A>T (p.His158Leu) | |
| 18 | g.60371877T>C | CA8980915 | MC4R | c.473A>G (p.His158Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371877T>G | CA402719736 | MC4R | c.473A>C (p.His158Pro) | |
| 18 | g.60371877T= | CA2307359179 | MC4R | c.473A= (p.His158=) | |
| 18 | g.60371878G>A | CA402719739 | MC4R | c.472C>T (p.His158Tyr) | |
| 18 | g.60371878G>C | CA402719737 | MC4R | c.472C>G (p.His158Asp) | gnomAD v4 |
| 18 | g.60371878G>T | CA402719738 | MC4R | c.472C>A (p.His158Asn) | COSMIC |
| 18 | g.60371879G>A | CA504305448 | MC4R | c.471C>T (p.Tyr157=) | |
| 18 | g.60371879G>C | CA402719740 | MC4R | c.471C>G (p.Tyr157Ter) | |
| 18 | g.60371879G>T | CA402719741 | MC4R | c.471C>A (p.Tyr157Ter) | |
| 18 | g.60371880T>A | CA402719742 | MC4R | c.470A>T (p.Tyr157Phe) | |
| 18 | g.60371880T>C | CA402719743 | MC4R | c.470A>G (p.Tyr157Cys) | |
| 18 | g.60371880T>G | CA8980916 | MC4R | c.470A>C (p.Tyr157Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371880T= | CA2307359180 | MC4R | c.470A= (p.Tyr157=) | |
| 18 | g.60371881A>C | CA402719744 | MC4R | c.469T>G (p.Tyr157Asp) | |
| 18 | g.60371881A>G | CA402719745 | MC4R | c.469T>C (p.Tyr157His) | |
| 18 | g.60371881A>T | CA402719746 | MC4R | c.469T>A (p.Tyr157Asn) | |
| 18 | g.60371882C>A | CA402719747 | MC4R | c.468G>T (p.Gln156His) | |
| 18 | g.60371882C= | CA2307359181 | MC4R | c.468G= (p.Gln156=) | |
| 18 | g.60371882C>G | CA402719748 | MC4R | c.468G>C (p.Gln156His) | |
| 18 | g.60371882C>T | CA8980917 | MC4R | c.468G>A (p.Gln156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371883T>A | CA402719750 | MC4R | c.467A>T (p.Gln156Leu) | |
| 18 | g.60371883T>C | CA402719751 | MC4R | c.467A>G (p.Gln156Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371883T>G | CA402719749 | MC4R | c.467A>C (p.Gln156Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371883T= | CA2307359182 | MC4R | c.467A= (p.Gln156=) | |
| 18 | g.60371884G>A | CA301530037 | MC4R | c.466C>T (p.Gln156Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371884G>C | CA402719752 | MC4R | c.466C>G (p.Gln156Glu) | |
| 18 | g.60371884G= | CA2307359183 | MC4R | c.466C= (p.Gln156=) | |
| 18 | g.60371884G>T | CA301530038 | MC4R | c.466C>A (p.Gln156Lys) | dbSNP gnomAD v4 |
| 18 | g.60371885G>A | CA504305449 | MC4R | c.465C>T (p.Leu155=) | gnomAD v4 |
| 18 | g.60371885G>C | CA504305450 | MC4R | c.465C>G (p.Leu155=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371885G= | CA2307359184 | MC4R | c.465C= (p.Leu155=) | |
| 18 | g.60371885G>T | CA504305451 | MC4R | c.465C>A (p.Leu155=) | |
| 18 | g.60371886A>C | CA402719753 | MC4R | c.464T>G (p.Leu155Arg) | |
| 18 | g.60371886A>G | CA402719754 | MC4R | c.464T>C (p.Leu155Pro) | |
| 18 | g.60371886A>T | CA402719755 | MC4R | c.464T>A (p.Leu155His) | |
| 18 | g.60371887G>A | CA402719756 | MC4R | c.463C>T (p.Leu155Phe) | dbSNP |
| 18 | g.60371887G>C | CA402719757 | MC4R | c.463C>G (p.Leu155Val) | dbSNP |
| 18 | g.60371887G= | CA2307359185 | MC4R | c.463C= (p.Leu155=) | |
| 18 | g.60371887G>T | CA402719758 | MC4R | c.463C>A (p.Leu155Ile) | |
| 18 | g.60371888A>C | CA504305452 | MC4R | c.462T>G (p.Ala154=) | |
| 18 | g.60371888A>G | CA504305453 | MC4R | c.462T>C (p.Ala154=) | |
| 18 | g.60371888A>T | CA504305455 | MC4R | c.462T>A (p.Ala154=) | |
| 18 | g.60371889G>A | CA402719759 | MC4R | c.461C>T (p.Ala154Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371889G>C | CA402719760 | MC4R | c.461C>G (p.Ala154Gly) | |
| 18 | g.60371889G= | CA2307359186 | MC4R | c.461C= (p.Ala154=) | |
| 18 | g.60371889G>T | CA8980918 | MC4R | c.461C>A (p.Ala154Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371890C>A | CA402719762 | MC4R | c.460G>T (p.Ala154Ser) | COSMIC |
| 18 | g.60371890C>G | CA402719763 | MC4R | c.460G>C (p.Ala154Pro) | |
| 18 | g.60371890C>T | CA402719761 | MC4R | c.460G>A (p.Ala154Thr) | |
| 18 | g.60371891A>C | CA402719764 | MC4R | c.459T>G (p.Tyr153Ter) | |
| 18 | g.60371891A>G | CA504305456 | MC4R | c.459T>C (p.Tyr153=) | |
| 18 | g.60371891A>T | CA402719765 | MC4R | c.459T>A (p.Tyr153Ter) | |
| 18 | g.60371892T>A | CA402719766 | MC4R | c.458A>T (p.Tyr153Phe) | |
| 18 | g.60371892T>C | CA8980919 | MC4R | c.458A>G (p.Tyr153Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371892T>G | CA402719767 | MC4R | c.458A>C (p.Tyr153Ser) | |
| 18 | g.60371892T= | CA2307359187 | MC4R | c.458A= (p.Tyr153=) | |
| 18 | g.60371893A>C | CA402719770 | MC4R | c.457T>G (p.Tyr153Asp) | |
| 18 | g.60371893A>G | CA402719768 | MC4R | c.457T>C (p.Tyr153His) | |
| 18 | g.60371893A>T | CA402719769 | MC4R | c.457T>A (p.Tyr153Asn) | |
| 18 | g.60371894G>A | CA504305458 | MC4R | c.456C>T (p.Phe152=) | gnomAD v4 |
| 18 | g.60371894G>C | CA402719771 | MC4R | c.456C>G (p.Phe152Leu) | |
| 18 | g.60371894G>T | CA402719772 | MC4R | c.456C>A (p.Phe152Leu) | |
| 18 | g.60371895A= | CA2307359188 | MC4R | c.455T= (p.Phe152=) | |
| 18 | g.60371895A>C | CA402719773 | MC4R | c.455T>G (p.Phe152Cys) | |
| 18 | g.60371895A>G | CA8980920 | MC4R | c.455T>C (p.Phe152Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371895A>T | CA402719774 | MC4R | c.455T>A (p.Phe152Tyr) | |
| 18 | g.60371896A>C | CA402719775 | MC4R | c.454T>G (p.Phe152Val) | |
| 18 | g.60371896A>G | CA402719777 | MC4R | c.454T>C (p.Phe152Leu) | |
| 18 | g.60371896A>T | CA402719776 | MC4R | c.454T>A (p.Phe152Ile) | |
| 18 | g.60371897del | CA2695227735 | MC4R | c.453del (p.Phe152SerfsTer10) | |
| 18 | g.60371897G>A | CA8980921 | MC4R | c.453C>T (p.Ile151=) | dbSNP ExAC gnomAD v2 |
| 18 | g.60371897G>C | CA402719778 | MC4R | c.453C>G (p.Ile151Met) | |
| 18 | g.60371897G= | CA2307359189 | MC4R | c.453C= (p.Ile151=) | |
| 18 | g.60371897G>T | CA504305460 | MC4R | c.453C>A (p.Ile151=) | gnomAD v4 |
| 18 | g.60371898A= | CA2307359190 | MC4R | c.452T= (p.Ile151=) | |
| 18 | g.60371898A>C | CA402719779 | MC4R | c.452T>G (p.Ile151Ser) | |
| 18 | g.60371898A>G | CA402719780 | MC4R | c.452T>C (p.Ile151Thr) | dbSNP |
| 18 | g.60371898A>T | CA402719781 | MC4R | c.452T>A (p.Ile151Asn) | |
| 18 | g.60371899T>A | CA402719782 | MC4R | c.451A>T (p.Ile151Phe) | |
| 18 | g.60371899T>C | CA402719783 | MC4R | c.451A>G (p.Ile151Val) | |
| 18 | g.60371899T>G | CA402719784 | MC4R | c.451A>C (p.Ile151Leu) | |
| 18 | g.60371900A>C | CA504305461 | MC4R | c.450T>G (p.Thr150=) | |
| 18 | g.60371900A>G | CA504305463 | MC4R | c.450T>C (p.Thr150=) | |
| 18 | g.60371900A>T | CA504305462 | MC4R | c.450T>A (p.Thr150=) | |
| 18 | g.60371904_60371908del | CA2695227736 | MC4R | c.446_450del (p.Phe149TyrfsTer9) | |
| 18 | g.60371901G>A | CA8980922 | MC4R | c.449C>T (p.Thr150Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371901G>C | CA402719785 | MC4R | c.449C>G (p.Thr150Ser) | dbSNP |
| 18 | g.60371901G= | CA2307359191 | MC4R | c.449C= (p.Thr150=) | |
| 18 | g.60371901G>T | CA402719786 | MC4R | c.449C>A (p.Thr150Asn) | |
| 18 | g.60371902T>A | CA402719787 | MC4R | c.448A>T (p.Thr150Ser) | |
| 18 | g.60371902T>C | CA402719788 | MC4R | c.448A>G (p.Thr150Ala) | |
| 18 | g.60371902T>G | CA402719789 | MC4R | c.448A>C (p.Thr150Pro) | |
| 18 | g.60371902_60371904delinsTAA | CA2307359192 | MC4R | c.446_448delinsTTA (p.Phe149=) | |
| 18 | g.60371903A= | CA2307359194 | MC4R | c.447T= (p.Phe149=) | |
| 18 | g.60371903A>C | CA402719790 | MC4R | c.447T>G (p.Phe149Leu) | |
| 18 | g.60371903A>G | CA301530039 | MC4R | c.447T>C (p.Phe149=) | dbSNP |
| 18 | g.60371903A>T | CA402719791 | MC4R | c.447T>A (p.Phe149Leu) | |
| 18 | g.60371904_60371905del | CA2307359193 | MC4R | c.446_447del (p.Phe149TyrfsTer10) | dbSNP |
| 18 | g.60371904A>C | CA402719794 | MC4R | c.446T>G (p.Phe149Cys) | |
| 18 | g.60371904A>G | CA402719792 | MC4R | c.446T>C (p.Phe149Ser) | |
| 18 | g.60371904A>T | CA402719793 | MC4R | c.446T>A (p.Phe149Tyr) | |
| 18 | g.60371905A>C | CA402719795 | MC4R | c.445T>G (p.Phe149Val) | |
| 18 | g.60371905A>G | CA402719796 | MC4R | c.445T>C (p.Phe149Leu) | |
| 18 | g.60371905A>T | CA402719797 | MC4R | c.445T>A (p.Phe149Ile) | |
| 18 | g.60371906G>A | CA504305464 | MC4R | c.444C>T (p.Tyr148=) | |
| 18 | g.60371906G>C | CA402719798 | MC4R | c.444C>G (p.Tyr148Ter) | |
| 18 | g.60371906G>T | CA402719799 | MC4R | c.444C>A (p.Tyr148Ter) | |
| 18 | g.60371907T>A | CA402719800 | MC4R | c.443A>T (p.Tyr148Phe) | |
| 18 | g.60371907T>C | CA402719801 | MC4R | c.443A>G (p.Tyr148Cys) | |
| 18 | g.60371907T>G | CA402719802 | MC4R | c.443A>C (p.Tyr148Ser) | |
| 18 | g.60371907_60371908delinsTA | CA2307359196 | MC4R | c.442_443delinsTA (p.Tyr148=) | |
| 18 | g.60371907_60371915delinsTACCTGTCC | CA2307359195 | MC4R | c.435_443delinsGGACAGGTA (p.Val145=) | |
| 18 | g.60371908del | CA2307359198 | MC4R | c.442del (p.Tyr148ThrfsTer14) | dbSNP |
| 18 | g.60371908A= | CA2307359197 | MC4R | c.442T= (p.Tyr148=) | |
| 18 | g.60371908A>C | CA402719803 | MC4R | c.442T>G (p.Tyr148Asp) | |
| 18 | g.60371908A>G | CA402719804 | MC4R | c.442T>C (p.Tyr148His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371908A>T | CA402719805 | MC4R | c.442T>A (p.Tyr148Asn) | |
| 18 | g.60371910_60371917del | CA8980923 | MC4R | c.435_442del (p.Asp146LeufsTer11) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371909C>A | CA402719806 | MC4R | c.441G>T (p.Arg147Ser) | |
| 18 | g.60371909C= | CA2307359199 | MC4R | c.441G= (p.Arg147=) | |
| 18 | g.60371909C>G | CA402719807 | MC4R | c.441G>C (p.Arg147Ser) | dbSNP |
| 18 | g.60371909C>T | CA8980924 | MC4R | c.441G>A (p.Arg147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371910C>A | CA402719808 | MC4R | c.440G>T (p.Arg147Met) | |
| 18 | g.60371910C>G | CA402719809 | MC4R | c.440G>C (p.Arg147Thr) | |
| 18 | g.60371910C>T | CA402719810 | MC4R | c.440G>A (p.Arg147Lys) | |
| 18 | g.60371911T>A | CA402719811 | MC4R | c.439A>T (p.Arg147Trp) | |
| 18 | g.60371911T>C | CA402719812 | MC4R | c.439A>G (p.Arg147Gly) | |
| 18 | g.60371911T>G | CA504305465 | MC4R | c.439A>C (p.Arg147=) | |
| 18 | g.60371912G>A | CA504305466 | MC4R | c.438C>T (p.Asp146=) | |
| 18 | g.60371912G>C | CA402719813 | MC4R | c.438C>G (p.Asp146Glu) | |
| 18 | g.60371912G>T | CA402719814 | MC4R | c.438C>A (p.Asp146Glu) | |
| 18 | g.60371913T>A | CA402719815 | MC4R | c.437A>T (p.Asp146Val) | ClinVar dbSNP |
| 18 | g.60371913T>C | CA402719816 | MC4R | c.437A>G (p.Asp146Gly) | gnomAD v4 |
| 18 | g.60371913T>G | CA402719817 | MC4R | c.437A>C (p.Asp146Ala) | gnomAD v4 |
| 18 | g.60371914C>A | CA402719818 | MC4R | c.436G>T (p.Asp146Tyr) | |
| 18 | g.60371914C= | CA2307359200 | MC4R | c.436G= (p.Asp146=) | |
| 18 | g.60371914C>G | CA402719819 | MC4R | c.436G>C (p.Asp146His) | dbSNP |
| 18 | g.60371914C>T | CA8980925 | MC4R | c.436G>A (p.Asp146Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371915C>A | CA504305469 | MC4R | c.435G>T (p.Val145=) | |
| 18 | g.60371915C>G | CA504305470 | MC4R | c.435G>C (p.Val145=) | |
| 18 | g.60371915C>T | CA504305471 | MC4R | c.435G>A (p.Val145=) | |
| 18 | g.60371916A= | CA2307359201 | MC4R | c.434T= (p.Val145=) | |
| 18 | g.60371916A>C | CA402719820 | MC4R | c.434T>G (p.Val145Gly) | |
| 18 | g.60371916A>G | CA8980926 | MC4R | c.434T>C (p.Val145Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371916A>T | CA402719821 | MC4R | c.434T>A (p.Val145Glu) | |
| 18 | g.60371916dup | CA2642029303 | MC4R | c.434dup (p.Asp146GlyfsTer14) | gnomAD v4 |
| 18 | g.60371917C>A | CA402719822 | MC4R | c.433G>T (p.Val145Leu) | |
| 18 | g.60371917C>G | CA402719823 | MC4R | c.433G>C (p.Val145Leu) | |
| 18 | g.60371917C>T | CA402719824 | MC4R | c.433G>A (p.Val145Met) | |
| 18 | g.60371918T>A | CA504305472 | MC4R | c.432A>T (p.Ala144=) | COSMIC |
| 18 | g.60371918T>C | CA504305473 | MC4R | c.432A>G (p.Ala144=) | |
| 18 | g.60371918T>G | CA504305474 | MC4R | c.432A>C (p.Ala144=) | |
| 18 | g.60371919G>A | CA402719825 | MC4R | c.431C>T (p.Ala144Val) | gnomAD v4 |
| 18 | g.60371919G>C | CA402719826 | MC4R | c.431C>G (p.Ala144Gly) | |
| 18 | g.60371919G>T | CA402719827 | MC4R | c.431C>A (p.Ala144Glu) | |
| 18 | g.60371920C>A | CA402719828 | MC4R | c.430G>T (p.Ala144Ser) | |
| 18 | g.60371920C>G | CA402719829 | MC4R | c.430G>C (p.Ala144Pro) | |
| 18 | g.60371920C>T | CA402719830 | MC4R | c.430G>A (p.Ala144Thr) | |
| 18 | g.60371921A>C | CA402719831 | MC4R | c.429T>G (p.Ile143Met) | |
| 18 | g.60371921A>G | CA504305477 | MC4R | c.429T>C (p.Ile143=) | |
| 18 | g.60371921A>T | CA504305478 | MC4R | c.429T>A (p.Ile143=) | dbSNP |
| 18 | g.60371922A= | CA2307359202 | MC4R | c.428T= (p.Ile143=) | |
| 18 | g.60371922A>C | CA402719834 | MC4R | c.428T>G (p.Ile143Ser) | dbSNP gnomAD v4 |
| 18 | g.60371922A>G | CA402719833 | MC4R | c.428T>C (p.Ile143Thr) | |
| 18 | g.60371922A>T | CA402719832 | MC4R | c.428T>A (p.Ile143Asn) | |
| 18 | g.60371923T>A | CA402719835 | MC4R | c.427A>T (p.Ile143Phe) | |
| 18 | g.60371923T>C | CA8980927 | MC4R | c.427A>G (p.Ile143Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371923T>G | CA402719836 | MC4R | c.427A>C (p.Ile143Leu) | |
| 18 | g.60371923T= | CA2307359203 | MC4R | c.427A= (p.Ile143=) | |
| 18 | g.60371924T>A | CA504305480 | MC4R | c.426A>T (p.Ser142=) | |
| 18 | g.60371924T>C | CA504305481 | MC4R | c.426A>G (p.Ser142=) | |
| 18 | g.60371924T>G | CA504305482 | MC4R | c.426A>C (p.Ser142=) | |
| 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.60371943dup | CA2841935535 | MC4R | c.408dup (p.Ile137HisfsTer23) | |
| 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) |