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.13884676_13884682del | CA2641150770 | MC2R | c.841_847del (p.Pro281SerfsTer8) | gnomAD v4 |
| 18 | g.13884675C>A | CA401993689 | MC2R | c.844G>T (p.Glu282Ter) | |
| 18 | g.13884675C>G | CA401993691 | MC2R | c.844G>C (p.Glu282Gln) | |
| 18 | g.13884675C>T | CA401993692 | MC2R | c.844G>A (p.Glu282Lys) | |
| 18 | g.13884676T>A | CA503010668 | MC2R | c.843A>T (p.Pro281=) | |
| 18 | g.13884676T>C | CA503010669 | MC2R | c.843A>G (p.Pro281=) | |
| 18 | g.13884676T>G | CA503010670 | MC2R | c.843A>C (p.Pro281=) | |
| 18 | g.13884676_13884677delinsTG | CA2285919214 | MC2R | c.842_843delinsCA (p.Pro281=) | |
| 18 | g.13884677G>A | CA401993693 | MC2R | c.842C>T (p.Pro281Leu) | |
| 18 | g.13884677G>C | CA401993694 | MC2R | c.842C>G (p.Pro281Arg) | COSMIC |
| 18 | g.13884677G>T | CA401993695 | MC2R | c.842C>A (p.Pro281Gln) | |
| 18 | g.13884679del | CA776350773 | MC2R | c.842del (p.Pro281GlnfsTer10) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884678G>A | CA401993700 | MC2R | c.841C>T (p.Pro281Ser) | |
| 18 | g.13884678G>C | CA401993699 | MC2R | c.841C>G (p.Pro281Ala) | |
| 18 | g.13884678G>T | CA401993698 | MC2R | c.841C>A (p.Pro281Thr) | |
| 18 | g.13884679G>A | CA503010671 | MC2R | c.840C>T (p.Ser280=) | |
| 18 | g.13884679G>C | CA401993703 | MC2R | c.840C>G (p.Ser280Arg) | |
| 18 | g.13884679G>T | CA401993705 | MC2R | c.840C>A (p.Ser280Arg) | |
| 18 | g.13884680C>A | CA401993707 | MC2R | c.839G>T (p.Ser280Ile) | |
| 18 | g.13884680C>G | CA401993709 | MC2R | c.839G>C (p.Ser280Thr) | |
| 18 | g.13884680C>T | CA401993711 | MC2R | c.839G>A (p.Ser280Asn) | gnomAD v4 |
| 18 | g.13884681T>A | CA401993714 | MC2R | c.838A>T (p.Ser280Cys) | |
| 18 | g.13884681T>C | CA401993716 | MC2R | c.838A>G (p.Ser280Gly) | |
| 18 | g.13884681T>G | CA401993717 | MC2R | c.838A>C (p.Ser280Arg) | |
| 18 | g.13884682C>A | CA503010672 | MC2R | c.837G>T (p.Arg279=) | |
| 18 | g.13884682C>G | CA503010674 | MC2R | c.837G>C (p.Arg279=) | |
| 18 | g.13884682C>T | CA503010673 | MC2R | c.837G>A (p.Arg279=) | |
| 18 | g.13884683C>A | CA8902390 | MC2R | c.836G>T (p.Arg279Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884683C= | CA2285919215 | MC2R | c.836G= (p.Arg279=) | |
| 18 | g.13884683C>G | CA401993720 | MC2R | c.836G>C (p.Arg279Pro) | |
| 18 | g.13884683C>T | CA401993721 | MC2R | c.836G>A (p.Arg279Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884684G>A | CA296828539 | MC2R | c.835C>T (p.Arg279Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884684G>C | CA401993723 | MC2R | c.835C>G (p.Arg279Gly) | COSMIC |
| 18 | g.13884684G= | CA2285919216 | MC2R | c.835C= (p.Arg279=) | |
| 18 | g.13884684G>T | CA503010675 | MC2R | c.835C>A (p.Arg279=) | gnomAD v4 |
| 18 | g.13884685G>A | CA503010676 | MC2R | c.834C>T (p.Phe278=) | gnomAD v4 |
| 18 | g.13884685G>C | CA401993725 | MC2R | c.834C>G (p.Phe278Leu) | |
| 18 | g.13884685G>T | CA401993727 | MC2R | c.834C>A (p.Phe278Leu) | |
| 18 | g.13884686A= | CA2285919217 | MC2R | c.833T= (p.Phe278=) | |
| 18 | g.13884686A>C | CA8902391 | MC2R | c.833T>G (p.Phe278Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884686A>G | CA401993729 | MC2R | c.833T>C (p.Phe278Ser) | gnomAD v4 |
| 18 | g.13884686A>T | CA401993731 | MC2R | c.833T>A (p.Phe278Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884687A>C | CA401993733 | MC2R | c.832T>G (p.Phe278Val) | |
| 18 | g.13884687A>G | CA401993735 | MC2R | c.832T>C (p.Phe278Leu) | |
| 18 | g.13884687A>T | CA401993737 | MC2R | c.832T>A (p.Phe278Ile) | |
| 18 | g.13884688G>A | CA8902392 | MC2R | c.831C>T (p.Ala277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884688G>C | CA8902393 | MC2R | c.831C>G (p.Ala277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884688G= | CA2285919219 | MC2R | c.831C= (p.Ala277=) | |
| 18 | g.13884688G>T | CA503010677 | MC2R | c.831C>A (p.Ala277=) | ClinVar |
| 18 | g.13884688_13884692delinsGGCAT | CA2285919218 | MC2R | c.827_831delinsATGCC (p.Tyr276=) | |
| 18 | g.13884689G>A | CA401993740 | MC2R | c.830C>T (p.Ala277Val) | gnomAD v4 |
| 18 | g.13884689G>C | CA401993741 | MC2R | c.830C>G (p.Ala277Gly) | gnomAD v4 |
| 18 | g.13884689G>T | CA401993743 | MC2R | c.830C>A (p.Ala277Asp) | |
| 18 | g.13884689_13884692del | CA776350804 | MC2R | c.827_830del (p.Tyr276SerfsTer14) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884690C>A | CA401993749 | MC2R | c.829G>T (p.Ala277Ser) | |
| 18 | g.13884690C>G | CA401993747 | MC2R | c.829G>C (p.Ala277Pro) | |
| 18 | g.13884690C>T | CA401993745 | MC2R | c.829G>A (p.Ala277Thr) | COSMIC |
| 18 | g.13884691A= | CA2285919220 | MC2R | c.828T= (p.Tyr276=) | |
| 18 | g.13884691A>C | CA401993751 | MC2R | c.828T>G (p.Tyr276Ter) | |
| 18 | g.13884691A>G | CA8902394 | MC2R | c.828T>C (p.Tyr276=) | dbSNP ExAC gnomAD v2 |
| 18 | g.13884691A>T | CA401993752 | MC2R | c.828T>A (p.Tyr276Ter) | dbSNP |
| 18 | g.13884692T>A | CA401993755 | MC2R | c.827A>T (p.Tyr276Phe) | |
| 18 | g.13884692T>C | CA296828548 | MC2R | c.827A>G (p.Tyr276Cys) | dbSNP |
| 18 | g.13884692T>G | CA401993757 | MC2R | c.827A>C (p.Tyr276Ser) | |
| 18 | g.13884692T= | CA2285919221 | MC2R | c.827A= (p.Tyr276=) | |
| 18 | g.13884693A= | CA2285919222 | MC2R | c.826T= (p.Tyr276=) | |
| 18 | g.13884693A>C | CA8902395 | MC2R | c.826T>G (p.Tyr276Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884693A>G | CA401993761 | MC2R | c.826T>C (p.Tyr276His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884693A>T | CA401993762 | MC2R | c.826T>A (p.Tyr276Asn) | |
| 18 | g.13884694T>A | CA503010678 | MC2R | c.825A>T (p.Ile275=) | |
| 18 | g.13884694T>C | CA401993764 | MC2R | c.825A>G (p.Ile275Met) | |
| 18 | g.13884694T>G | CA503010679 | MC2R | c.825A>C (p.Ile275=) | |
| 18 | g.13884695A= | CA2285919223 | MC2R | c.824T= (p.Ile275=) | |
| 18 | g.13884695A>C | CA401993766 | MC2R | c.824T>G (p.Ile275Arg) | |
| 18 | g.13884695A>G | CA401993768 | MC2R | c.824T>C (p.Ile275Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884695A>T | CA401993770 | MC2R | c.824T>A (p.Ile275Lys) | |
| 18 | g.13884696T>A | CA401993775 | MC2R | c.823A>T (p.Ile275Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884696T>C | CA8902396 | MC2R | c.823A>G (p.Ile275Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884696T>G | CA401993772 | MC2R | c.823A>C (p.Ile275Leu) | |
| 18 | g.13884696T= | CA2285919224 | MC2R | c.823A= (p.Ile275=) | |
| 18 | g.13884697G>A | CA296828555 | MC2R | c.822C>T (p.Phe274=) | dbSNP gnomAD v4 |
| 18 | g.13884697G>C | CA401993777 | MC2R | c.822C>G (p.Phe274Leu) | |
| 18 | g.13884697G= | CA2285919225 | MC2R | c.822C= (p.Phe274=) | |
| 18 | g.13884697G>T | CA401993779 | MC2R | c.822C>A (p.Phe274Leu) | |
| 18 | g.13884698A>C | CA401993781 | MC2R | c.821T>G (p.Phe274Cys) | |
| 18 | g.13884698A>G | CA401993782 | MC2R | c.821T>C (p.Phe274Ser) | |
| 18 | g.13884698A>T | CA401993783 | MC2R | c.821T>A (p.Phe274Tyr) | |
| 18 | g.13884699A= | CA2285919226 | MC2R | c.820T= (p.Phe274=) | |
| 18 | g.13884699A>C | CA401993784 | MC2R | c.820T>G (p.Phe274Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884699A>G | CA401993785 | MC2R | c.820T>C (p.Phe274Leu) | |
| 18 | g.13884699A>T | CA401993787 | MC2R | c.820T>A (p.Phe274Ile) | gnomAD v4 |
| 18 | g.13884700G>A | CA503010680 | MC2R | c.819C>T (p.Pro273=) | |
| 18 | g.13884700G>C | CA503010681 | MC2R | c.819C>G (p.Pro273=) | |
| 18 | g.13884700G>T | CA503010682 | MC2R | c.819C>A (p.Pro273=) | |
| 18 | g.13884703del | CA2641150771 | MC2R | c.819del (p.Phe274SerfsTer17) | gnomAD v4 |
| 18 | g.13884701G>A | CA401993788 | MC2R | c.818C>T (p.Pro273Leu) | dbSNP COSMIC |
| 18 | g.13884701G>C | CA401993790 | MC2R | c.818C>G (p.Pro273Arg) | |
| 18 | g.13884701G= | CA2285919227 | MC2R | c.818C= (p.Pro273=) | |
| 18 | g.13884701G>T | CA296828558 | MC2R | c.818C>A (p.Pro273His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884702G>A | CA401993794 | MC2R | c.817C>T (p.Pro273Ser) | ClinVar |
| 18 | g.13884702G>C | CA401993796 | MC2R | c.817C>G (p.Pro273Ala) | |
| 18 | g.13884702G= | CA2285919228 | MC2R | c.817C= (p.Pro273=) | |
| 18 | g.13884702G>T | CA401993793 | MC2R | c.817C>A (p.Pro273Thr) | dbSNP COSMIC |
| 18 | g.13884703G>A | CA503010683 | MC2R | c.816C>T (p.Asp272=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884703G>C | CA401993798 | MC2R | c.816C>G (p.Asp272Glu) | |
| 18 | g.13884703G= | CA2285919229 | MC2R | c.816C= (p.Asp272=) | |
| 18 | g.13884703G>T | CA401993800 | MC2R | c.816C>A (p.Asp272Glu) | |
| 18 | g.13884704T>A | CA401993803 | MC2R | c.815A>T (p.Asp272Val) | |
| 18 | g.13884704T>C | CA401993804 | MC2R | c.815A>G (p.Asp272Gly) | |
| 18 | g.13884704T>G | CA401993805 | MC2R | c.815A>C (p.Asp272Ala) | |
| 18 | g.13884705C>A | CA401993808 | MC2R | c.814G>T (p.Asp272Tyr) | |
| 18 | g.13884705C>G | CA401993809 | MC2R | c.814G>C (p.Asp272His) | |
| 18 | g.13884705C>T | CA401993810 | MC2R | c.814G>A (p.Asp272Asn) | |
| 18 | g.13884706A>C | CA401993813 | MC2R | c.813T>G (p.Ile271Met) | |
| 18 | g.13884706A>G | CA503010685 | MC2R | c.813T>C (p.Ile271=) | |
| 18 | g.13884706A>T | CA503010684 | MC2R | c.813T>A (p.Ile271=) | |
| 18 | g.13884707A= | CA2285919230 | MC2R | c.812T= (p.Ile271=) | |
| 18 | g.13884707A>C | CA401993816 | MC2R | c.812T>G (p.Ile271Ser) | |
| 18 | g.13884707A>G | CA8902397 | MC2R | c.812T>C (p.Ile271Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884707A>T | CA401993818 | MC2R | c.812T>A (p.Ile271Asn) | |
| 18 | g.13884708T>A | CA401993823 | MC2R | c.811A>T (p.Ile271Phe) | |
| 18 | g.13884708T>C | CA401993824 | MC2R | c.811A>G (p.Ile271Val) | gnomAD v4 |
| 18 | g.13884708T>G | CA401993821 | MC2R | c.811A>C (p.Ile271Leu) | |
| 18 | g.13884709G>A | CA503010686 | MC2R | c.810C>T (p.Val270=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884709G>C | CA503010688 | MC2R | c.810C>G (p.Val270=) | |
| 18 | g.13884709G= | CA2285919231 | MC2R | c.810C= (p.Val270=) | |
| 18 | g.13884709G>T | CA503010687 | MC2R | c.810C>A (p.Val270=) | dbSNP |
| 18 | g.13884710A= | CA2285919232 | MC2R | c.809T= (p.Val270=) | |
| 18 | g.13884710A>C | CA401993826 | MC2R | c.809T>G (p.Val270Gly) | |
| 18 | g.13884710A>G | CA401993827 | MC2R | c.809T>C (p.Val270Ala) | |
| 18 | g.13884710A>T | CA401993829 | MC2R | c.809T>A (p.Val270Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884711C>A | CA401993832 | MC2R | c.808G>T (p.Val270Phe) | |
| 18 | g.13884711C= | CA2285919233 | MC2R | c.808G= (p.Val270=) | |
| 18 | g.13884711C>G | CA401993834 | MC2R | c.808G>C (p.Val270Leu) | dbSNP |
| 18 | g.13884711C>T | CA8902398 | MC2R | c.808G>A (p.Val270Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884712G>A | CA8902399 | MC2R | c.807C>T (p.Ala269=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884712G>C | CA503010689 | MC2R | c.807C>G (p.Ala269=) | |
| 18 | g.13884712G= | CA2285919234 | MC2R | c.807C= (p.Ala269=) | |
| 18 | g.13884712G>T | CA8902400 | MC2R | c.807C>A (p.Ala269=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884713G>A | CA401993839 | MC2R | c.806C>T (p.Ala269Val) | |
| 18 | g.13884713G>C | CA401993841 | MC2R | c.806C>G (p.Ala269Gly) | |
| 18 | g.13884713G>T | CA401993842 | MC2R | c.806C>A (p.Ala269Asp) | |
| 18 | g.13884714C>A | CA401993844 | MC2R | c.805G>T (p.Ala269Ser) | |
| 18 | g.13884714C>G | CA401993846 | MC2R | c.805G>C (p.Ala269Pro) | |
| 18 | g.13884714C>T | CA401993847 | MC2R | c.805G>A (p.Ala269Thr) | |
| 18 | g.13884715A>C | CA401993848 | MC2R | c.804T>G (p.Asn268Lys) | |
| 18 | g.13884715A>G | CA503010690 | MC2R | c.804T>C (p.Asn268=) | gnomAD v4 |
| 18 | g.13884715A>T | CA401993849 | MC2R | c.804T>A (p.Asn268Lys) | |
| 18 | g.13884716T>A | CA401993851 | MC2R | c.803A>T (p.Asn268Ile) | |
| 18 | g.13884716T>C | CA401993855 | MC2R | c.803A>G (p.Asn268Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884716T>G | CA401993853 | MC2R | c.803A>C (p.Asn268Thr) | |
| 18 | g.13884716T= | CA2285919235 | MC2R | c.803A= (p.Asn268=) | |
| 18 | g.13884717T>A | CA401993858 | MC2R | c.802A>T (p.Asn268Tyr) | |
| 18 | g.13884717T>C | CA401993859 | MC2R | c.802A>G (p.Asn268Asp) | |
| 18 | g.13884717T>G | CA401993861 | MC2R | c.802A>C (p.Asn268His) | |
| 18 | g.13884717_13884718delinsTG | CA2285919236 | MC2R | c.801_802delinsCA (p.Cys267=) | |
| 18 | g.13884718del | CA919934278 | MC2R | c.801del (p.Cys267Ter) | dbSNP gnomAD v4 |
| 18 | g.13884718G>A | CA503010691 | MC2R | c.801C>T (p.Cys267=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884718G>C | CA401993863 | MC2R | c.801C>G (p.Cys267Trp) | |
| 18 | g.13884718G= | CA2285919237 | MC2R | c.801C= (p.Cys267=) | |
| 18 | g.13884718G>T | CA401993865 | MC2R | c.801C>A (p.Cys267Ter) | |
| 18 | g.13884719C>A | CA401993871 | MC2R | c.800G>T (p.Cys267Phe) | |
| 18 | g.13884719C>G | CA401993870 | MC2R | c.800G>C (p.Cys267Ser) | |
| 18 | g.13884719C>T | CA401993867 | MC2R | c.800G>A (p.Cys267Tyr) | gnomAD v4 |
| 18 | g.13884720A= | CA2285919238 | MC2R | c.799T= (p.Cys267=) | |
| 18 | g.13884720A>C | CA401993873 | MC2R | c.799T>G (p.Cys267Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884720A>G | CA401993875 | MC2R | c.799T>C (p.Cys267Arg) | COSMIC |
| 18 | g.13884720A>T | CA401993876 | MC2R | c.799T>A (p.Cys267Ser) | |
| 18 | g.13884721C>A | CA401993878 | MC2R | c.798G>T (p.Met266Ile) | gnomAD v4 |
| 18 | g.13884721C>G | CA401993880 | MC2R | c.798G>C (p.Met266Ile) | |
| 18 | g.13884721C>T | CA401993882 | MC2R | c.798G>A (p.Met266Ile) | gnomAD v4 |
| 18 | g.13884722A= | CA2285919239 | MC2R | c.797T= (p.Met266=) | |
| 18 | g.13884722A>C | CA401993884 | MC2R | c.797T>G (p.Met266Arg) | |
| 18 | g.13884722A>G | CA8902401 | MC2R | c.797T>C (p.Met266Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884722A>T | CA401993886 | MC2R | c.797T>A (p.Met266Lys) | gnomAD v4 |
| 18 | g.13884723T>A | CA401993889 | MC2R | c.796A>T (p.Met266Leu) | gnomAD v4 |
| 18 | g.13884723T>C | CA401993891 | MC2R | c.796A>G (p.Met266Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884723T>G | CA8902402 | MC2R | c.796A>C (p.Met266Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884723T= | CA2285919240 | MC2R | c.796A= (p.Met266=) | |
| 18 | g.13884724G>A | CA8902403 | MC2R | c.795C>T (p.Ile265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884724G>C | CA401993896 | MC2R | c.795C>G (p.Ile265Met) | |
| 18 | g.13884724G= | CA2285919241 | MC2R | c.795C= (p.Ile265=) | |
| 18 | g.13884724G>T | CA503010692 | MC2R | c.795C>A (p.Ile265=) | |
| 18 | g.13884725A>C | CA401993899 | MC2R | c.794T>G (p.Ile265Ser) | |
| 18 | g.13884725A>G | CA401993901 | MC2R | c.794T>C (p.Ile265Thr) | |
| 18 | g.13884725A>T | CA401993902 | MC2R | c.794T>A (p.Ile265Asn) | |
| 18 | g.13884726T>A | CA401993905 | MC2R | c.793A>T (p.Ile265Phe) | |
| 18 | g.13884726T>C | CA401993907 | MC2R | c.793A>G (p.Ile265Val) | |
| 18 | g.13884726T>G | CA401993908 | MC2R | c.793A>C (p.Ile265Leu) | |
| 18 | g.13884726_13884727delinsTC | CA2285919242 | MC2R | c.792_793delinsGA (p.Leu264=) | |
| 18 | g.13884727del | CA919934279 | MC2R | c.792del (p.Ile265SerfsTer26) | dbSNP |
| 18 | g.13884727C>A | CA401993911 | MC2R | c.792G>T (p.Leu264Phe) | |
| 18 | g.13884727C= | CA2285919243 | MC2R | c.792G= (p.Leu264=) | |
| 18 | g.13884727C>G | CA401993913 | MC2R | c.792G>C (p.Leu264Phe) | |
| 18 | g.13884727C>T | CA503010693 | MC2R | c.792G>A (p.Leu264=) | dbSNP |
| 18 | g.13884728A= | CA2285919244 | MC2R | c.791T= (p.Leu264=) | |
| 18 | g.13884728A>C | CA401993915 | MC2R | c.791T>G (p.Leu264Trp) | |
| 18 | g.13884728A>G | CA8902404 | MC2R | c.791T>C (p.Leu264Ser) | dbSNP ExAC gnomAD v2 |
| 18 | g.13884728A>T | CA401993917 | MC2R | c.791T>A (p.Leu264Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884729A>C | CA401993920 | MC2R | c.790T>G (p.Leu264Val) | |
| 18 | g.13884729A>G | CA503010694 | MC2R | c.790T>C (p.Leu264=) | gnomAD v4 |
| 18 | g.13884729A>T | CA401993922 | MC2R | c.790T>A (p.Leu264Met) | |
| 18 | g.13884730C>A | CA401993923 | MC2R | c.789G>T (p.Met263Ile) | |
| 18 | g.13884730C>G | CA401993925 | MC2R | c.789G>C (p.Met263Ile) | |
| 18 | g.13884730C>T | CA401993927 | MC2R | c.789G>A (p.Met263Ile) | |
| 18 | g.13884731A>C | CA401993930 | MC2R | c.788T>G (p.Met263Arg) | |
| 18 | g.13884731A>G | CA401993932 | MC2R | c.788T>C (p.Met263Thr) | |
| 18 | g.13884731A>T | CA401993933 | MC2R | c.788T>A (p.Met263Lys) | |
| 18 | g.13884732T>A | CA401993934 | MC2R | c.787A>T (p.Met263Leu) | gnomAD v4 |
| 18 | g.13884732T>C | CA401993936 | MC2R | c.787A>G (p.Met263Val) | |
| 18 | g.13884732T>G | CA401993938 | MC2R | c.787A>C (p.Met263Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884732T= | CA2285919245 | MC2R | c.787A= (p.Met263=) | |
| 18 | g.13884733G>A | CA503010695 | MC2R | c.786C>T (p.Gly262=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884733G>C | CA503010696 | MC2R | c.786C>G (p.Gly262=) | |
| 18 | g.13884733G= | CA2285919246 | MC2R | c.786C= (p.Gly262=) | |
| 18 | g.13884733G>T | CA503010697 | MC2R | c.786C>A (p.Gly262=) | |
| 18 | g.13884734C>A | CA401993943 | MC2R | c.785G>T (p.Gly262Val) | |
| 18 | g.13884734C= | CA2285919247 | MC2R | c.785G= (p.Gly262=) | |
| 18 | g.13884734C>G | CA401993942 | MC2R | c.785G>C (p.Gly262Ala) | |
| 18 | g.13884734C>T | CA296828583 | MC2R | c.785G>A (p.Gly262Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884735C>A | CA401993944 | MC2R | c.784G>T (p.Gly262Cys) | |
| 18 | g.13884735C= | CA2285919248 | MC2R | c.784G= (p.Gly262=) | |
| 18 | g.13884735C>G | CA401993945 | MC2R | c.784G>C (p.Gly262Arg) | |
| 18 | g.13884735C>T | CA8902405 | MC2R | c.784G>A (p.Gly262Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884736G>A | CA8902406 | MC2R | c.783C>T (p.Asn261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884736G>C | CA401993949 | MC2R | c.783C>G (p.Asn261Lys) | |
| 18 | g.13884736G= | CA2285919249 | MC2R | c.783C= (p.Asn261=) | |
| 18 | g.13884736G>T | CA401993951 | MC2R | c.783C>A (p.Asn261Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884737T>A | CA401993953 | MC2R | c.782A>T (p.Asn261Ile) | |
| 18 | g.13884737T>C | CA401993954 | MC2R | c.782A>G (p.Asn261Ser) | |
| 18 | g.13884737T>G | CA401993955 | MC2R | c.782A>C (p.Asn261Thr) | |
| 18 | g.13884738T>A | CA401993956 | MC2R | c.781A>T (p.Asn261Tyr) | |
| 18 | g.13884738T>C | CA401993958 | MC2R | c.781A>G (p.Asn261Asp) | |
| 18 | g.13884738T>G | CA401993960 | MC2R | c.781A>C (p.Asn261His) | |
| 18 | g.13884739C>A | CA503010698 | MC2R | c.780G>T (p.Val260=) | |
| 18 | g.13884739C>G | CA503010699 | MC2R | c.780G>C (p.Val260=) | |
| 18 | g.13884739C>T | CA503010700 | MC2R | c.780G>A (p.Val260=) | |
| 18 | g.13884740A>C | CA401993962 | MC2R | c.779T>G (p.Val260Gly) | gnomAD v4 |
| 18 | g.13884740A>G | CA401993966 | MC2R | c.779T>C (p.Val260Ala) | |
| 18 | g.13884740A>T | CA401993964 | MC2R | c.779T>A (p.Val260Glu) | |
| 18 | g.13884741C>A | CA401993968 | MC2R | c.778G>T (p.Val260Leu) | |
| 18 | g.13884741C>G | CA401993969 | MC2R | c.778G>C (p.Val260Leu) | |
| 18 | g.13884741C>T | CA401993971 | MC2R | c.778G>A (p.Val260Met) | |
| 18 | g.13884742C>A | CA401993974 | MC2R | c.777G>T (p.Gln259His) | COSMIC |
| 18 | g.13884742C>G | CA401993975 | MC2R | c.777G>C (p.Gln259His) | |
| 18 | g.13884742C>T | CA503010701 | MC2R | c.777G>A (p.Gln259=) | |
| 18 | g.13884743T>A | CA401993978 | MC2R | c.776A>T (p.Gln259Leu) | |
| 18 | g.13884743T>C | CA401993979 | MC2R | c.776A>G (p.Gln259Arg) | |
| 18 | g.13884743T>G | CA401993981 | MC2R | c.776A>C (p.Gln259Pro) | |
| 18 | g.13884744G>A | CA401993982 | MC2R | c.775C>T (p.Gln259Ter) | |
| 18 | g.13884744G>C | CA401993983 | MC2R | c.775C>G (p.Gln259Glu) | |
| 18 | g.13884744G>T | CA401993984 | MC2R | c.775C>A (p.Gln259Lys) | |
| 18 | g.13884745del | CA2641150772 | MC2R | c.775del (p.Gln259ArgfsTer2) | gnomAD v4 |
| 18 | g.13884745G>A | CA503010702 | MC2R | c.774C>T (p.Phe258=) | |
| 18 | g.13884745G>C | CA401993987 | MC2R | c.774C>G (p.Phe258Leu) | |
| 18 | g.13884745G>T | CA401993988 | MC2R | c.774C>A (p.Phe258Leu) | |
| 18 | g.13884746A>C | CA401993994 | MC2R | c.773T>G (p.Phe258Cys) | |
| 18 | g.13884746A>G | CA401993992 | MC2R | c.773T>C (p.Phe258Ser) | |
| 18 | g.13884746A>T | CA401993990 | MC2R | c.773T>A (p.Phe258Tyr) | |
| 18 | g.13884747A>C | CA401993996 | MC2R | c.772T>G (p.Phe258Val) | |
| 18 | g.13884747A>G | CA401993998 | MC2R | c.772T>C (p.Phe258Leu) | |
| 18 | g.13884747A>T | CA401994000 | MC2R | c.772T>A (p.Phe258Ile) | |
| 18 | g.13884748G>A | CA8902408 | MC2R | c.771C>T (p.Leu257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884748G>C | CA8902407 | MC2R | c.771C>G (p.Leu257=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884748G= | CA2285919250 | MC2R | c.771C= (p.Leu257=) | |
| 18 | g.13884748G>T | CA503010703 | MC2R | c.771C>A (p.Leu257=) | |
| 18 | g.13884749A>C | CA401994006 | MC2R | c.770T>G (p.Leu257Arg) | |
| 18 | g.13884749A>G | CA401994007 | MC2R | c.770T>C (p.Leu257Pro) | |
| 18 | g.13884749A>T | CA401994009 | MC2R | c.770T>A (p.Leu257His) | |
| 18 | g.13884750G>A | CA401994010 | MC2R | c.769C>T (p.Leu257Phe) | |
| 18 | g.13884750G>C | CA401994012 | MC2R | c.769C>G (p.Leu257Val) | dbSNP gnomAD v4 |
| 18 | g.13884750G= | CA2285919251 | MC2R | c.769C= (p.Leu257=) | |
| 18 | g.13884750G>T | CA401994014 | MC2R | c.769C>A (p.Leu257Ile) | |
| 18 | g.13884751A= | CA2285919252 | MC2R | c.768T= (p.Ser256=) | |
| 18 | g.13884751A>C | CA503010706 | MC2R | c.768T>G (p.Ser256=) | |
| 18 | g.13884751A>G | CA503010704 | MC2R | c.768T>C (p.Ser256=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884751A>T | CA503010705 | MC2R | c.768T>A (p.Ser256=) | |
| 18 | g.13884752G>A | CA401994016 | MC2R | c.767C>T (p.Ser256Phe) | ClinVar dbSNP gnomAD v4 |
| 18 | g.13884752G>C | CA401994017 | MC2R | c.767C>G (p.Ser256Cys) | |
| 18 | g.13884752G= | CA2285919253 | MC2R | c.767C= (p.Ser256=) | |
| 18 | g.13884752G>T | CA401994019 | MC2R | c.767C>A (p.Ser256Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884753A>C | CA401994024 | MC2R | c.766T>G (p.Ser256Ala) | |
| 18 | g.13884753A>G | CA401994025 | MC2R | c.766T>C (p.Ser256Pro) | |
| 18 | g.13884753A>T | CA401994021 | MC2R | c.766T>A (p.Ser256Thr) | |
| 18 | g.13884753_13884760delinsACATGTAG | CA2285919254 | MC2R | c.759_766delinsCTACATGT (p.Cys253=) | |
| 18 | g.13884754C>A | CA401994028 | MC2R | c.765G>T (p.Met255Ile) | |
| 18 | g.13884754C= | CA2285919255 | MC2R | c.765G= (p.Met255=) | |
| 18 | g.13884754C>G | CA401994030 | MC2R | c.765G>C (p.Met255Ile) | |
| 18 | g.13884754C>T | CA8902409 | MC2R | c.765G>A (p.Met255Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884756_13884762del | CA628496355 | MC2R | c.759_765del (p.Tyr254LeufsTer5) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884755A>C | CA401994031 | MC2R | c.764T>G (p.Met255Arg) | |
| 18 | g.13884755A>G | CA401994032 | MC2R | c.764T>C (p.Met255Thr) | |
| 18 | g.13884755A>T | CA401994034 | MC2R | c.764T>A (p.Met255Lys) | |
| 18 | g.13884755_13884756del | CA2641150773 | MC2R | c.763_764del (p.Met255ValfsTer17) | gnomAD v4 |
| 18 | g.13884756T>A | CA401994036 | MC2R | c.763A>T (p.Met255Leu) | |
| 18 | g.13884756T>C | CA296828597 | MC2R | c.763A>G (p.Met255Val) | dbSNP gnomAD v4 |
| 18 | g.13884756T>G | CA401994039 | MC2R | c.763A>C (p.Met255Leu) | |
| 18 | g.13884756T= | CA2285919256 | MC2R | c.763A= (p.Met255=) | |
| 18 | g.13884757G>A | CA8902410 | MC2R | c.762C>T (p.Tyr254=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884757G>C | CA401994040 | MC2R | c.762C>G (p.Tyr254Ter) | |
| 18 | g.13884757G= | CA2285919257 | MC2R | c.762C= (p.Tyr254=) | |
| 18 | g.13884757G>T | CA401994041 | MC2R | c.762C>A (p.Tyr254Ter) | |
| 18 | g.13884758T>A | CA401994045 | MC2R | c.761A>T (p.Tyr254Phe) | gnomAD v4 |
| 18 | g.13884758T>C | CA116124 | MC2R | c.761A>G (p.Tyr254Cys) | ClinVar dbSNP |
| 18 | g.13884758T>G | CA401994043 | MC2R | c.761A>C (p.Tyr254Ser) | gnomAD v4 |
| 18 | g.13884758T= | CA2285919258 | MC2R | c.761A= (p.Tyr254=) | |
| 18 | g.13884759A= | CA2285919259 | MC2R | c.760T= (p.Tyr254=) | |
| 18 | g.13884759A>C | CA401994048 | MC2R | c.760T>G (p.Tyr254Asp) | dbSNP |
| 18 | g.13884759A>G | CA401994049 | MC2R | c.760T>C (p.Tyr254His) | dbSNP |
| 18 | g.13884759A>T | CA401994051 | MC2R | c.760T>A (p.Tyr254Asn) | |
| 18 | g.13884760G>A | CA503248015 | MC2R | c.759C>T (p.Cys253=) | |
| 18 | g.13884760G>C | CA401994054 | MC2R | c.759C>G (p.Cys253Trp) | |
| 18 | g.13884760G>T | CA401994055 | MC2R | c.759C>A (p.Cys253Ter) | |
| 18 | g.13884761C>A | CA401994058 | MC2R | c.758G>T (p.Cys253Phe) | |
| 18 | g.13884761C>G | CA401994060 | MC2R | c.758G>C (p.Cys253Ser) | |
| 18 | g.13884761C>T | CA401994061 | MC2R | c.758G>A (p.Cys253Tyr) | |
| 18 | g.13884762A>C | CA401994064 | MC2R | c.757T>G (p.Cys253Gly) | |
| 18 | g.13884762A>G | CA401994066 | MC2R | c.757T>C (p.Cys253Arg) | |
| 18 | g.13884762A>T | CA401994067 | MC2R | c.757T>A (p.Cys253Ser) | |
| 18 | g.13884763G>A | CA503248020 | MC2R | c.756C>T (p.Ala252=) | |
| 18 | g.13884763G>C | CA503248022 | MC2R | c.756C>G (p.Ala252=) | |
| 18 | g.13884763G>T | CA503248023 | MC2R | c.756C>A (p.Ala252=) | |
| 18 | g.13884764G>A | CA401994074 | MC2R | c.755C>T (p.Ala252Val) | gnomAD v4 |
| 18 | g.13884764G>C | CA401994071 | MC2R | c.755C>G (p.Ala252Gly) | |
| 18 | g.13884764G>T | CA401994072 | MC2R | c.755C>A (p.Ala252Asp) | |
| 18 | g.13884765C>A | CA296828605 | MC2R | c.754G>T (p.Ala252Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884765C= | CA2285919260 | MC2R | c.754G= (p.Ala252=) | |
| 18 | g.13884765C>G | CA401994079 | MC2R | c.754G>C (p.Ala252Pro) | |
| 18 | g.13884765C>T | CA8902411 | MC2R | c.754G>A (p.Ala252Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884766G>A | CA296828608 | MC2R | c.753C>T (p.Cys251=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884766G>C | CA401994083 | MC2R | c.753C>G (p.Cys251Trp) | |
| 18 | g.13884766G= | CA2285919261 | MC2R | c.753C= (p.Cys251=) | |
| 18 | g.13884766G>T | CA401994082 | MC2R | c.753C>A (p.Cys251Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884767C>A | CA116122 | MC2R | c.752G>T (p.Cys251Phe) | ClinVar dbSNP |
| 18 | g.13884767C= | CA2285919262 | MC2R | c.752G= (p.Cys251=) | |
| 18 | g.13884767C>G | CA296828614 | MC2R | c.752G>C (p.Cys251Ser) | dbSNP gnomAD v4 |
| 18 | g.13884767C>T | CA296828617 | MC2R | c.752G>A (p.Cys251Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884768A= | CA2285919263 | MC2R | c.751T= (p.Cys251=) | |
| 18 | g.13884768A>C | CA401994087 | MC2R | c.751T>G (p.Cys251Gly) | gnomAD v4 |
| 18 | g.13884768A>G | CA401994088 | MC2R | c.751T>C (p.Cys251Arg) | dbSNP |
| 18 | g.13884768A>T | CA401994089 | MC2R | c.751T>A (p.Cys251Ser) | |
| 18 | g.13884769G>A | CA503248034 | MC2R | c.750C>T (p.Tyr250=) | |
| 18 | g.13884769G>C | CA401994093 | MC2R | c.750C>G (p.Tyr250Ter) | |
| 18 | g.13884769G>T | CA401994092 | MC2R | c.750C>A (p.Tyr250Ter) | |
| 18 | g.13884770T>A | CA401994096 | MC2R | c.749A>T (p.Tyr250Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884770T>C | CA401994098 | MC2R | c.749A>G (p.Tyr250Cys) | |
| 18 | g.13884770T>G | CA401994100 | MC2R | c.749A>C (p.Tyr250Ser) | |
| 18 | g.13884770T= | CA2285919264 | MC2R | c.749A= (p.Tyr250=) | |
| 18 | g.13884771A= | CA2285919265 | MC2R | c.748T= (p.Tyr250=) | |
| 18 | g.13884771A>C | CA401994103 | MC2R | c.748T>G (p.Tyr250Asp) | |
| 18 | g.13884771A>G | CA401994104 | MC2R | c.748T>C (p.Tyr250His) | dbSNP |
| 18 | g.13884771A>T | CA401994106 | MC2R | c.748T>A (p.Tyr250Asn) | |
| 18 | g.13884772G>A | CA503248041 | MC2R | c.747C>T (p.Pro249=) | |
| 18 | g.13884772G>C | CA503248040 | MC2R | c.747C>G (p.Pro249=) | |
| 18 | g.13884772G>T | CA503248039 | MC2R | c.747C>A (p.Pro249=) | |
| 18 | g.13884773G>A | CA401994113 | MC2R | c.746C>T (p.Pro249Leu) | |
| 18 | g.13884773G>C | CA401994108 | MC2R | c.746C>G (p.Pro249Arg) | |
| 18 | g.13884773G>T | CA401994110 | MC2R | c.746C>A (p.Pro249His) | |
| 18 | g.13884774G>A | CA401994115 | MC2R | c.745C>T (p.Pro249Ser) | gnomAD v4 |
| 18 | g.13884774G>C | CA8902412 | MC2R | c.745C>G (p.Pro249Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884774G= | CA2285919266 | MC2R | c.745C= (p.Pro249=) | |
| 18 | g.13884774G>T | CA401994118 | MC2R | c.745C>A (p.Pro249Thr) | |
| 18 | g.13884775G>A | CA503248055 | MC2R | c.744C>T (p.Asn248=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884775G>C | CA401994121 | MC2R | c.744C>G (p.Asn248Lys) | |
| 18 | g.13884775G= | CA2285919267 | MC2R | c.744C= (p.Asn248=) | |
| 18 | g.13884775G>T | CA8902413 | MC2R | c.744C>A (p.Asn248Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |