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.13884925C>A | CA503248405 | MC2R | c.594G>T (p.Leu198=) | |
| 18 | g.13884925C>G | CA503248407 | MC2R | c.594G>C (p.Leu198=) | |
| 18 | g.13884925C>T | CA503248409 | MC2R | c.594G>A (p.Leu198=) | |
| 18 | g.13884925_13884926insG | CA988025220 | MC2R | c.593_594insC (p.Leu199AlafsTer?) | gnomAD v3 gnomAD v4 |
| 18 | g.13884926A= | CA2285919339 | MC2R | c.593T= (p.Leu198=) | |
| 18 | g.13884926A>C | CA401994772 | MC2R | c.593T>G (p.Leu198Arg) | |
| 18 | g.13884926A>G | CA296828719 | MC2R | c.593T>C (p.Leu198Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884926A>T | CA296828716 | MC2R | c.593T>A (p.Leu198Gln) | dbSNP |
| 18 | g.13884927G>A | CA503248413 | MC2R | c.592C>T (p.Leu198=) | COSMIC |
| 18 | g.13884927G>C | CA401994777 | MC2R | c.592C>G (p.Leu198Val) | |
| 18 | g.13884927G>T | CA401994779 | MC2R | c.592C>A (p.Leu198Met) | gnomAD v4 |
| 18 | g.13884928G>A | CA8902444 | MC2R | c.591C>T (p.Phe197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884928G>C | CA401994781 | MC2R | c.591C>G (p.Phe197Leu) | dbSNP |
| 18 | g.13884928G= | CA2285919340 | MC2R | c.591C= (p.Phe197=) | |
| 18 | g.13884928G>T | CA401994783 | MC2R | c.591C>A (p.Phe197Leu) | |
| 18 | g.13884928_13884931del | CA988025230 | MC2R | c.588_591del (p.Met196IlefsTer19) | gnomAD v3 gnomAD v4 |
| 18 | g.13884929A= | CA2285919341 | MC2R | c.590T= (p.Phe197=) | |
| 18 | g.13884929A>C | CA401994787 | MC2R | c.590T>G (p.Phe197Cys) | dbSNP |
| 18 | g.13884929A>G | CA401994788 | MC2R | c.590T>C (p.Phe197Ser) | |
| 18 | g.13884929A>T | CA401994785 | MC2R | c.590T>A (p.Phe197Tyr) | |
| 18 | g.13884930A= | CA2285919342 | MC2R | c.589T= (p.Phe197=) | |
| 18 | g.13884930A>C | CA401994790 | MC2R | c.589T>G (p.Phe197Val) | |
| 18 | g.13884930A>G | CA401994792 | MC2R | c.589T>C (p.Phe197Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884930A>T | CA401994793 | MC2R | c.589T>A (p.Phe197Ile) | |
| 18 | g.13884931C>A | CA401994796 | MC2R | c.588G>T (p.Met196Ile) | |
| 18 | g.13884931C>G | CA401994798 | MC2R | c.588G>C (p.Met196Ile) | |
| 18 | g.13884931C>T | CA401994799 | MC2R | c.588G>A (p.Met196Ile) | |
| 18 | g.13884931_13884933delinsCAT | CA2285919343 | MC2R | c.586_588delinsATG (p.Met196=) | |
| 18 | g.13884932A>C | CA401994806 | MC2R | c.587T>G (p.Met196Arg) | |
| 18 | g.13884932A>G | CA401994802 | MC2R | c.587T>C (p.Met196Thr) | gnomAD v4 |
| 18 | g.13884932A>T | CA401994804 | MC2R | c.587T>A (p.Met196Lys) | |
| 18 | g.13884932_13884933del | CA776351290 | MC2R | c.586_587del (p.Met196ValfsTer?) | dbSNP |
| 18 | g.13884933T>A | CA401994808 | MC2R | c.586A>T (p.Met196Leu) | |
| 18 | g.13884933T>C | CA401994809 | MC2R | c.586A>G (p.Met196Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884933T>G | CA401994810 | MC2R | c.586A>C (p.Met196Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884933T= | CA2285919344 | MC2R | c.586A= (p.Met196=) | |
| 18 | g.13884934G>A | CA503248420 | MC2R | c.585C>T (p.His195=) | |
| 18 | g.13884934G>C | CA401994811 | MC2R | c.585C>G (p.His195Gln) | gnomAD v3 gnomAD v4 |
| 18 | g.13884934G>T | CA401994812 | MC2R | c.585C>A (p.His195Gln) | |
| 18 | g.13884935T>A | CA401994817 | MC2R | c.584A>T (p.His195Leu) | |
| 18 | g.13884935T>C | CA401994813 | MC2R | c.584A>G (p.His195Arg) | |
| 18 | g.13884935T>G | CA401994815 | MC2R | c.584A>C (p.His195Pro) | |
| 18 | g.13884936G>A | CA401994819 | MC2R | c.583C>T (p.His195Tyr) | gnomAD v3 gnomAD v4 |
| 18 | g.13884936G>C | CA401994821 | MC2R | c.583C>G (p.His195Asp) | |
| 18 | g.13884936G>T | CA401994823 | MC2R | c.583C>A (p.His195Asn) | |
| 18 | g.13884937C>A | CA503248427 | MC2R | c.582G>T (p.Val194=) | |
| 18 | g.13884937C>G | CA503248428 | MC2R | c.582G>C (p.Val194=) | |
| 18 | g.13884937C>T | CA503248430 | MC2R | c.582G>A (p.Val194=) | gnomAD v4 |
| 18 | g.13884937_13884940delinsCACA | CA2285919345 | MC2R | c.579_582delinsTGTG (p.Tyr193=) | |
| 18 | g.13884938A>C | CA401994827 | MC2R | c.581T>G (p.Val194Gly) | gnomAD v4 |
| 18 | g.13884938A>G | CA401994828 | MC2R | c.581T>C (p.Val194Ala) | |
| 18 | g.13884938A>T | CA401994830 | MC2R | c.581T>A (p.Val194Glu) | |
| 18 | g.13884938_13884940del | CA10603618 | MC2R | c.579_581del (p.Tyr193Ter) | ClinVar dbSNP |
| 18 | g.13884939C>A | CA401994833 | MC2R | c.580G>T (p.Val194Leu) | gnomAD v4 |
| 18 | g.13884939C>G | CA401994836 | MC2R | c.580G>C (p.Val194Leu) | |
| 18 | g.13884939C>T | CA401994834 | MC2R | c.580G>A (p.Val194Met) | |
| 18 | g.13884939_13884941delinsCAT | CA2285919346 | MC2R | c.578_580delinsATG (p.Tyr193=) | |
| 18 | g.13884940A= | CA2285919347 | MC2R | c.579T= (p.Tyr193=) | |
| 18 | g.13884940A>C | CA401994839 | MC2R | c.579T>G (p.Tyr193Ter) | dbSNP |
| 18 | g.13884940A>G | CA8902446 | MC2R | c.579T>C (p.Tyr193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884940A>T | CA401994841 | MC2R | c.579T>A (p.Tyr193Ter) | |
| 18 | g.13884941_13884942del | CA8902445 | MC2R | c.578_579del (p.Tyr193CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884941T>A | CA401994843 | MC2R | c.578A>T (p.Tyr193Phe) | |
| 18 | g.13884941T>C | CA8902447 | MC2R | c.578A>G (p.Tyr193Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884941T>G | CA401994845 | MC2R | c.578A>C (p.Tyr193Ser) | |
| 18 | g.13884941T= | CA2285919348 | MC2R | c.578A= (p.Tyr193=) | |
| 18 | g.13884942A>C | CA401994848 | MC2R | c.577T>G (p.Tyr193Asp) | |
| 18 | g.13884942A>G | CA401994849 | MC2R | c.577T>C (p.Tyr193His) | |
| 18 | g.13884942A>T | CA401994851 | MC2R | c.577T>A (p.Tyr193Asn) | |
| 18 | g.13884943G>A | CA503248445 | MC2R | c.576C>T (p.Leu192=) | |
| 18 | g.13884943G>C | CA503248447 | MC2R | c.576C>G (p.Leu192=) | |
| 18 | g.13884943G>T | CA503248448 | MC2R | c.576C>A (p.Leu192=) | |
| 18 | g.13884944A>C | CA401994853 | MC2R | c.575T>G (p.Leu192Arg) | |
| 18 | g.13884944A>G | CA401994854 | MC2R | c.575T>C (p.Leu192Pro) | |
| 18 | g.13884944A>T | CA401994856 | MC2R | c.575T>A (p.Leu192His) | |
| 18 | g.13884945G>A | CA401994857 | MC2R | c.574C>T (p.Leu192Phe) | |
| 18 | g.13884945G>C | CA401994858 | MC2R | c.574C>G (p.Leu192Val) | |
| 18 | g.13884945G>T | CA401994859 | MC2R | c.574C>A (p.Leu192Ile) | |
| 18 | g.13884946G>A | CA8902448 | MC2R | c.573C>T (p.Cys191=) | dbSNP ExAC gnomAD v2 COSMIC |
| 18 | g.13884946G>C | CA401994862 | MC2R | c.573C>G (p.Cys191Trp) | |
| 18 | g.13884946G= | CA2285919349 | MC2R | c.573C= (p.Cys191=) | |
| 18 | g.13884946G>T | CA401994863 | MC2R | c.573C>A (p.Cys191Ter) | ClinVar dbSNP |
| 18 | g.13884947C>A | CA401994867 | MC2R | c.572G>T (p.Cys191Phe) | |
| 18 | g.13884947C= | CA2285919350 | MC2R | c.572G= (p.Cys191=) | |
| 18 | g.13884947C>G | CA401994869 | MC2R | c.572G>C (p.Cys191Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884947C>T | CA401994865 | MC2R | c.572G>A (p.Cys191Tyr) | gnomAD v4 |
| 18 | g.13884948A>C | CA401994871 | MC2R | c.571T>G (p.Cys191Gly) | |
| 18 | g.13884948A>G | CA401994873 | MC2R | c.571T>C (p.Cys191Arg) | gnomAD v4 |
| 18 | g.13884948A>T | CA401994876 | MC2R | c.571T>A (p.Cys191Ser) | |
| 18 | g.13884949C>A | CA503248459 | MC2R | c.570G>T (p.Leu190=) | |
| 18 | g.13884949C>G | CA503248461 | MC2R | c.570G>C (p.Leu190=) | |
| 18 | g.13884949C>T | CA503248460 | MC2R | c.570G>A (p.Leu190=) | |
| 18 | g.13884950A>C | CA401994877 | MC2R | c.569T>G (p.Leu190Arg) | ClinVar |
| 18 | g.13884950A>G | CA401994878 | MC2R | c.569T>C (p.Leu190Pro) | |
| 18 | g.13884950A>T | CA401994880 | MC2R | c.569T>A (p.Leu190Gln) | |
| 18 | g.13884951G>A | CA503248464 | MC2R | c.568C>T (p.Leu190=) | gnomAD v4 |
| 18 | g.13884951G>C | CA401994883 | MC2R | c.568C>G (p.Leu190Val) | |
| 18 | g.13884951G>T | CA401994885 | MC2R | c.568C>A (p.Leu190Met) | |
| 18 | g.13884952G>A | CA296828730 | MC2R | c.567C>T (p.Ile189=) | dbSNP COSMIC |
| 18 | g.13884952G>C | CA401994888 | MC2R | c.567C>G (p.Ile189Met) | |
| 18 | g.13884952G= | CA2285919351 | MC2R | c.567C= (p.Ile189=) | |
| 18 | g.13884952G>T | CA503248466 | MC2R | c.567C>A (p.Ile189=) | |
| 18 | g.13884953A>C | CA401994891 | MC2R | c.566T>G (p.Ile189Ser) | |
| 18 | g.13884953A>G | CA401994893 | MC2R | c.566T>C (p.Ile189Thr) | gnomAD v4 |
| 18 | g.13884953A>T | CA401994894 | MC2R | c.566T>A (p.Ile189Asn) | |
| 18 | g.13884954T>A | CA401994897 | MC2R | c.565A>T (p.Ile189Phe) | |
| 18 | g.13884954T>C | CA401994900 | MC2R | c.565A>G (p.Ile189Val) | |
| 18 | g.13884954T>G | CA401994899 | MC2R | c.565A>C (p.Ile189Leu) | |
| 18 | g.13884955G>A | CA8902449 | MC2R | c.564C>T (p.Phe188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884955G>C | CA401994907 | MC2R | c.564C>G (p.Phe188Leu) | |
| 18 | g.13884955G= | CA2285919352 | MC2R | c.564C= (p.Phe188=) | |
| 18 | g.13884955G>T | CA401994904 | MC2R | c.564C>A (p.Phe188Leu) | |
| 18 | g.13884956A>C | CA401994909 | MC2R | c.563T>G (p.Phe188Cys) | |
| 18 | g.13884956A>G | CA401994910 | MC2R | c.563T>C (p.Phe188Ser) | |
| 18 | g.13884956A>T | CA401994911 | MC2R | c.563T>A (p.Phe188Tyr) | |
| 18 | g.13884957A>C | CA401994912 | MC2R | c.562T>G (p.Phe188Val) | |
| 18 | g.13884957A>G | CA401994913 | MC2R | c.562T>C (p.Phe188Leu) | gnomAD v4 |
| 18 | g.13884957A>T | CA401994915 | MC2R | c.562T>A (p.Phe188Ile) | |
| 18 | g.13884958G>A | CA503248473 | MC2R | c.561C>T (p.Val187=) | gnomAD v4 |
| 18 | g.13884958G>C | CA503248475 | MC2R | c.561C>G (p.Val187=) | |
| 18 | g.13884958G>T | CA503248477 | MC2R | c.561C>A (p.Val187=) | |
| 18 | g.13884958_13884959delinsGA | CA2285919353 | MC2R | c.560_561delinsTC (p.Val187=) | |
| 18 | g.13884959del | CA658684182 | MC2R | c.560del (p.Val187AlafsTer29) | ClinVar dbSNP |
| 18 | g.13884959A>C | CA401994917 | MC2R | c.560T>G (p.Val187Gly) | |
| 18 | g.13884959A>G | CA401994918 | MC2R | c.560T>C (p.Val187Ala) | |
| 18 | g.13884959A>T | CA401994920 | MC2R | c.560T>A (p.Val187Asp) | |
| 18 | g.13884959_13884960delinsAC | CA2285919354 | MC2R | c.559_560delinsGT (p.Val187=) | |
| 18 | g.13884960C>A | CA401994923 | MC2R | c.559G>T (p.Val187Phe) | |
| 18 | g.13884960C= | CA2285919355 | MC2R | c.559G= (p.Val187=) | |
| 18 | g.13884960C>G | CA8902450 | MC2R | c.559G>C (p.Val187Leu) | dbSNP ExAC gnomAD v2 |
| 18 | g.13884960C>T | CA401994926 | MC2R | c.559G>A (p.Val187Ile) | COSMIC |
| 18 | g.13884961del | CA988025243 | MC2R | c.559del (p.Val187SerfsTer29) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884961C>A | CA503248481 | MC2R | c.558G>T (p.Leu186=) | dbSNP |
| 18 | g.13884961C= | CA2285919356 | MC2R | c.558G= (p.Leu186=) | |
| 18 | g.13884961C>G | CA503248483 | MC2R | c.558G>C (p.Leu186=) | |
| 18 | g.13884961C>T | CA503248486 | MC2R | c.558G>A (p.Leu186=) | |
| 18 | g.13884962A>C | CA401994933 | MC2R | c.557T>G (p.Leu186Arg) | |
| 18 | g.13884962A>G | CA401994928 | MC2R | c.557T>C (p.Leu186Pro) | |
| 18 | g.13884962A>T | CA401994930 | MC2R | c.557T>A (p.Leu186Gln) | |
| 18 | g.13884963G>A | CA503248488 | MC2R | c.556C>T (p.Leu186=) | |
| 18 | g.13884963G>C | CA401994935 | MC2R | c.556C>G (p.Leu186Val) | |
| 18 | g.13884963G>T | CA401994937 | MC2R | c.556C>A (p.Leu186Met) | |
| 18 | g.13884964C>A | CA401994939 | MC2R | c.555G>T (p.Met185Ile) | |
| 18 | g.13884964C>G | CA401994942 | MC2R | c.555G>C (p.Met185Ile) | |
| 18 | g.13884964C>T | CA401994943 | MC2R | c.555G>A (p.Met185Ile) | |
| 18 | g.13884965A>C | CA401994945 | MC2R | c.554T>G (p.Met185Arg) | |
| 18 | g.13884965A>G | CA401994947 | MC2R | c.554T>C (p.Met185Thr) | |
| 18 | g.13884965A>T | CA401994948 | MC2R | c.554T>A (p.Met185Lys) | |
| 18 | g.13884966T>A | CA401994951 | MC2R | c.553A>T (p.Met185Leu) | gnomAD v4 |
| 18 | g.13884966T>C | CA401994953 | MC2R | c.553A>G (p.Met185Val) | |
| 18 | g.13884966T>G | CA401994954 | MC2R | c.553A>C (p.Met185Leu) | |
| 18 | g.13884967C>A | CA503248501 | MC2R | c.552G>T (p.Leu184=) | dbSNP gnomAD v4 |
| 18 | g.13884967C= | CA2285919357 | MC2R | c.552G= (p.Leu184=) | |
| 18 | g.13884967C>G | CA503248503 | MC2R | c.552G>C (p.Leu184=) | |
| 18 | g.13884967C>T | CA503248504 | MC2R | c.552G>A (p.Leu184=) | dbSNP COSMIC |
| 18 | g.13884968A>C | CA401994961 | MC2R | c.551T>G (p.Leu184Arg) | |
| 18 | g.13884968A>G | CA401994958 | MC2R | c.551T>C (p.Leu184Pro) | |
| 18 | g.13884968A>T | CA401994957 | MC2R | c.551T>A (p.Leu184Gln) | |
| 18 | g.13884969G>A | CA503248507 | MC2R | c.550C>T (p.Leu184=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13884969G>C | CA401994963 | MC2R | c.550C>G (p.Leu184Val) | |
| 18 | g.13884969G= | CA2285919358 | MC2R | c.550C= (p.Leu184=) | |
| 18 | g.13884969G>T | CA401994964 | MC2R | c.550C>A (p.Leu184Met) | dbSNP gnomAD v4 |
| 18 | g.13884970C>A | CA8902452 | MC2R | c.549G>T (p.Pro183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884970C= | CA2285919359 | MC2R | c.549G= (p.Pro183=) | |
| 18 | g.13884970C>G | CA503248511 | MC2R | c.549G>C (p.Pro183=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884970C>T | CA8902451 | MC2R | c.549G>A (p.Pro183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884971G>A | CA8902453 | MC2R | c.548C>T (p.Pro183Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884971G>C | CA401994968 | MC2R | c.548C>G (p.Pro183Arg) | |
| 18 | g.13884971G= | CA2285919360 | MC2R | c.548C= (p.Pro183=) | |
| 18 | g.13884971G>T | CA401994969 | MC2R | c.548C>A (p.Pro183Gln) | |
| 18 | g.13884972G>A | CA8902454 | MC2R | c.547C>T (p.Pro183Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884972G>C | CA401994972 | MC2R | c.547C>G (p.Pro183Ala) | |
| 18 | g.13884972G= | CA2285919361 | MC2R | c.547C= (p.Pro183=) | |
| 18 | g.13884972G>T | CA401994973 | MC2R | c.547C>A (p.Pro183Thr) | |
| 18 | g.13884973G>A | CA503248520 | MC2R | c.546C>T (p.Phe182=) | |
| 18 | g.13884973G>C | CA401994977 | MC2R | c.546C>G (p.Phe182Leu) | |
| 18 | g.13884973G>T | CA401994978 | MC2R | c.546C>A (p.Phe182Leu) | gnomAD v4 COSMIC |
| 18 | g.13884974A>C | CA401994983 | MC2R | c.545T>G (p.Phe182Cys) | |
| 18 | g.13884974A>G | CA401994981 | MC2R | c.545T>C (p.Phe182Ser) | |
| 18 | g.13884974A>T | CA401994979 | MC2R | c.545T>A (p.Phe182Tyr) | |
| 18 | g.13884975A= | CA2285919362 | MC2R | c.544T= (p.Phe182=) | |
| 18 | g.13884975A>C | CA401994985 | MC2R | c.544T>G (p.Phe182Val) | |
| 18 | g.13884975A>G | CA401994987 | MC2R | c.544T>C (p.Phe182Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884975A>T | CA401994989 | MC2R | c.544T>A (p.Phe182Ile) | |
| 18 | g.13884976C>A | CA503248524 | MC2R | c.543G>T (p.Leu181=) | |
| 18 | g.13884976C= | CA2285919363 | MC2R | c.543G= (p.Leu181=) | |
| 18 | g.13884976C>G | CA503248527 | MC2R | c.543G>C (p.Leu181=) | gnomAD v4 |
| 18 | g.13884976C>T | CA296828741 | MC2R | c.543G>A (p.Leu181=) | dbSNP |
| 18 | g.13884977A= | CA2285919364 | MC2R | c.542T= (p.Leu181=) | |
| 18 | g.13884977A>C | CA401994993 | MC2R | c.542T>G (p.Leu181Arg) | |
| 18 | g.13884977A>G | CA401994994 | MC2R | c.542T>C (p.Leu181Pro) | |
| 18 | g.13884977A>T | CA401994995 | MC2R | c.542T>A (p.Leu181Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884978G>A | CA503248528 | MC2R | c.541C>T (p.Leu181=) | COSMIC |
| 18 | g.13884978G>C | CA401994997 | MC2R | c.541C>G (p.Leu181Val) | |
| 18 | g.13884978G>T | CA401994999 | MC2R | c.541C>A (p.Leu181Met) | |
| 18 | g.13884979C>A | CA503248532 | MC2R | c.540G>T (p.Ser180=) | gnomAD v4 |
| 18 | g.13884979C= | CA2285919365 | MC2R | c.540G= (p.Ser180=) | |
| 18 | g.13884979C>G | CA503248534 | MC2R | c.540G>C (p.Ser180=) | |
| 18 | g.13884979C>T | CA8902455 | MC2R | c.540G>A (p.Ser180=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13884980G>A | CA401995002 | MC2R | c.539C>T (p.Ser180Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13884980G>C | CA401995004 | MC2R | c.539C>G (p.Ser180Trp) | |
| 18 | g.13884980G= | CA2285919366 | MC2R | c.539C= (p.Ser180=) | |
| 18 | g.13884980G>T | CA401995005 | MC2R | c.539C>A (p.Ser180Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884981A>C | CA401995009 | MC2R | c.538T>G (p.Ser180Ala) | |
| 18 | g.13884981A>G | CA401995012 | MC2R | c.538T>C (p.Ser180Pro) | |
| 18 | g.13884981A>T | CA401995008 | MC2R | c.538T>A (p.Ser180Thr) | |
| 18 | g.13884982C>A | CA503248537 | MC2R | c.537G>T (p.Thr179=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884982C= | CA2285919367 | MC2R | c.537G= (p.Thr179=) | |
| 18 | g.13884982C>G | CA503248538 | MC2R | c.537G>C (p.Thr179=) | |
| 18 | g.13884982C>T | CA8902456 | MC2R | c.537G>A (p.Thr179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884983G>A | CA8902457 | MC2R | c.536C>T (p.Thr179Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884983G>C | CA401995017 | MC2R | c.536C>G (p.Thr179Arg) | |
| 18 | g.13884983G= | CA2285919368 | MC2R | c.536C= (p.Thr179=) | |
| 18 | g.13884983G>T | CA401995020 | MC2R | c.536C>A (p.Thr179Lys) | |
| 18 | g.13884984T>A | CA401995022 | MC2R | c.535A>T (p.Thr179Ser) | |
| 18 | g.13884984T>C | CA401995026 | MC2R | c.535A>G (p.Thr179Ala) | |
| 18 | g.13884984T>G | CA401995024 | MC2R | c.535A>C (p.Thr179Pro) | |
| 18 | g.13884985G>A | CA503248545 | MC2R | c.534C>T (p.Phe178=) | |
| 18 | g.13884985G>C | CA401995028 | MC2R | c.534C>G (p.Phe178Leu) | |
| 18 | g.13884985G>T | CA401995029 | MC2R | c.534C>A (p.Phe178Leu) | |
| 18 | g.13884986A>C | CA401995031 | MC2R | c.533T>G (p.Phe178Cys) | |
| 18 | g.13884986A>G | CA401995035 | MC2R | c.533T>C (p.Phe178Ser) | COSMIC |
| 18 | g.13884986A>T | CA401995033 | MC2R | c.533T>A (p.Phe178Tyr) | |
| 18 | g.13884987A>C | CA401995038 | MC2R | c.532T>G (p.Phe178Val) | |
| 18 | g.13884987A>G | CA401995040 | MC2R | c.532T>C (p.Phe178Leu) | |
| 18 | g.13884987A>T | CA401995041 | MC2R | c.532T>A (p.Phe178Ile) | |
| 18 | g.13884988G>A | CA503248552 | MC2R | c.531C>T (p.Thr177=) | |
| 18 | g.13884988G>C | CA503248554 | MC2R | c.531C>G (p.Thr177=) | |
| 18 | g.13884988G>T | CA503248556 | MC2R | c.531C>A (p.Thr177=) | |
| 18 | g.13884989G>A | CA401995044 | MC2R | c.530C>T (p.Thr177Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884989G>C | CA401995045 | MC2R | c.530C>G (p.Thr177Ser) | |
| 18 | g.13884989G= | CA2285919369 | MC2R | c.530C= (p.Thr177=) | |
| 18 | g.13884989G>T | CA401995048 | MC2R | c.530C>A (p.Thr177Asn) | |
| 18 | g.13884990T>A | CA401995049 | MC2R | c.529A>T (p.Thr177Ser) | |
| 18 | g.13884990T>C | CA401995052 | MC2R | c.529A>G (p.Thr177Ala) | |
| 18 | g.13884990T>G | CA401995054 | MC2R | c.529A>C (p.Thr177Pro) | |
| 18 | g.13884991G>A | CA503248559 | MC2R | c.528C>T (p.Ile176=) | |
| 18 | g.13884991G>C | CA401995056 | MC2R | c.528C>G (p.Ile176Met) | |
| 18 | g.13884991G>T | CA503248560 | MC2R | c.528C>A (p.Ile176=) | |
| 18 | g.13884992A>C | CA401995058 | MC2R | c.527T>G (p.Ile176Ser) | |
| 18 | g.13884992A>G | CA401995061 | MC2R | c.527T>C (p.Ile176Thr) | |
| 18 | g.13884992A>T | CA401995063 | MC2R | c.527T>A (p.Ile176Asn) | |
| 18 | g.13884993T>A | CA401995065 | MC2R | c.526A>T (p.Ile176Phe) | |
| 18 | g.13884993T>C | CA401995069 | MC2R | c.526A>G (p.Ile176Val) | |
| 18 | g.13884993T>G | CA401995067 | MC2R | c.526A>C (p.Ile176Leu) | |
| 18 | g.13884994C>A | CA503248563 | MC2R | c.525G>T (p.Val175=) | gnomAD v4 COSMIC |
| 18 | g.13884994C>G | CA503248564 | MC2R | c.525G>C (p.Val175=) | |
| 18 | g.13884994C>T | CA503248566 | MC2R | c.525G>A (p.Val175=) | |
| 18 | g.13884995A= | CA2285919370 | MC2R | c.524T= (p.Val175=) | |
| 18 | g.13884995A>C | CA401995071 | MC2R | c.524T>G (p.Val175Gly) | |
| 18 | g.13884995A>G | CA401995073 | MC2R | c.524T>C (p.Val175Ala) | dbSNP gnomAD v4 |
| 18 | g.13884995A>T | CA10651394 | MC2R | c.524T>A (p.Val175Glu) | ClinVar dbSNP |
| 18 | g.13884996C>A | CA401995077 | MC2R | c.523G>T (p.Val175Leu) | |
| 18 | g.13884996C= | CA2285919371 | MC2R | c.523G= (p.Val175=) | |
| 18 | g.13884996C>G | CA401995078 | MC2R | c.523G>C (p.Val175Leu) | |
| 18 | g.13884996C>T | CA296828751 | MC2R | c.523G>A (p.Val175Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884997T>A | CA503248569 | MC2R | c.522A>T (p.Thr174=) | dbSNP |
| 18 | g.13884997T>C | CA503248570 | MC2R | c.522A>G (p.Thr174=) | |
| 18 | g.13884997T>G | CA503248571 | MC2R | c.522A>C (p.Thr174=) | dbSNP |
| 18 | g.13884997T= | CA2285919372 | MC2R | c.522A= (p.Thr174=) | |
| 18 | g.13884998G>A | CA401995082 | MC2R | c.521C>T (p.Thr174Ile) | |
| 18 | g.13884998G>C | CA401995084 | MC2R | c.521C>G (p.Thr174Arg) | dbSNP |
| 18 | g.13884998G= | CA2285919373 | MC2R | c.521C= (p.Thr174=) | |
| 18 | g.13884998G>T | CA401995085 | MC2R | c.521C>A (p.Thr174Lys) | |
| 18 | g.13884999T>A | CA401995088 | MC2R | c.520A>T (p.Thr174Ser) | |
| 18 | g.13884999T>C | CA401995087 | MC2R | c.520A>G (p.Thr174Ala) | |
| 18 | g.13884999T>G | CA401995086 | MC2R | c.520A>C (p.Thr174Pro) | |
| 18 | g.13885000G>A | CA503248574 | MC2R | c.519C>T (p.Pro173=) | |
| 18 | g.13885000G>C | CA503248575 | MC2R | c.519C>G (p.Pro173=) | |
| 18 | g.13885000G>T | CA503248576 | MC2R | c.519C>A (p.Pro173=) | dbSNP |
| 18 | g.13885001G>A | CA401995089 | MC2R | c.518C>T (p.Pro173Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885001G>C | CA401995090 | MC2R | c.518C>G (p.Pro173Arg) | |
| 18 | g.13885001G= | CA2285919374 | MC2R | c.518C= (p.Pro173=) | |
| 18 | g.13885001G>T | CA401995091 | MC2R | c.518C>A (p.Pro173His) | |
| 18 | g.13885002G>A | CA401995092 | MC2R | c.517C>T (p.Pro173Ser) | |
| 18 | g.13885002G>C | CA401995093 | MC2R | c.517C>G (p.Pro173Ala) | gnomAD v4 |
| 18 | g.13885002G>T | CA401995094 | MC2R | c.517C>A (p.Pro173Thr) | |
| 18 | g.13885003C>A | CA503248579 | MC2R | c.516G>T (p.Val172=) | |
| 18 | g.13885003C>G | CA503248580 | MC2R | c.516G>C (p.Val172=) | |
| 18 | g.13885003C>T | CA503248582 | MC2R | c.516G>A (p.Val172=) | gnomAD v4 |
| 18 | g.13885004A>C | CA401995097 | MC2R | c.515T>G (p.Val172Gly) | |
| 18 | g.13885004A>G | CA401995095 | MC2R | c.515T>C (p.Val172Ala) | |
| 18 | g.13885004A>T | CA401995096 | MC2R | c.515T>A (p.Val172Glu) | |
| 18 | g.13885005C>A | CA401995098 | MC2R | c.514G>T (p.Val172Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885005C= | CA2285919375 | MC2R | c.514G= (p.Val172=) | |
| 18 | g.13885005C>G | CA401995099 | MC2R | c.514G>C (p.Val172Leu) | |
| 18 | g.13885005C>T | CA401995100 | MC2R | c.514G>A (p.Val172Met) | COSMIC |
| 18 | g.13885006A= | CA2285919376 | MC2R | c.513T= (p.His171=) | |
| 18 | g.13885006A>C | CA401995101 | MC2R | c.513T>G (p.His171Gln) | |
| 18 | g.13885006A>G | CA503248587 | MC2R | c.513T>C (p.His171=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885006A>T | CA401995102 | MC2R | c.513T>A (p.His171Gln) | |
| 18 | g.13885007T>A | CA401995103 | MC2R | c.512A>T (p.His171Leu) | |
| 18 | g.13885007T>C | CA401995105 | MC2R | c.512A>G (p.His171Arg) | gnomAD v4 |
| 18 | g.13885007T>G | CA401995104 | MC2R | c.512A>C (p.His171Pro) | |
| 18 | g.13885008G>A | CA401995106 | MC2R | c.511C>T (p.His171Tyr) | gnomAD v4 |
| 18 | g.13885008G>C | CA401995107 | MC2R | c.511C>G (p.His171Asp) | |
| 18 | g.13885008G>T | CA401995108 | MC2R | c.511C>A (p.His171Asn) | gnomAD v4 |
| 18 | g.13885009A= | CA2285919377 | MC2R | c.510T= (p.His170=) | |
| 18 | g.13885009A>C | CA401995109 | MC2R | c.510T>G (p.His170Gln) | |
| 18 | g.13885009A>G | CA503248593 | MC2R | c.510T>C (p.His170=) | |
| 18 | g.13885009A>T | CA401995110 | MC2R | c.510T>A (p.His170Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885010T>A | CA401995111 | MC2R | c.509A>T (p.His170Leu) | gnomAD v4 |
| 18 | g.13885010T>C | CA296828753 | MC2R | c.509A>G (p.His170Arg) | dbSNP gnomAD v4 |
| 18 | g.13885010T>G | CA401995112 | MC2R | c.509A>C (p.His170Pro) | |
| 18 | g.13885010T= | CA2285919378 | MC2R | c.509A= (p.His170=) | |
| 18 | g.13885011G>A | CA401995113 | MC2R | c.508C>T (p.His170Tyr) | gnomAD v4 |
| 18 | g.13885011G>C | CA401995114 | MC2R | c.508C>G (p.His170Asp) | |
| 18 | g.13885011G>T | CA401995115 | MC2R | c.508C>A (p.His170Asn) | gnomAD v4 |
| 18 | g.13885012G>A | CA8902458 | MC2R | c.507C>T (p.Ser169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885012G>C | CA503248599 | MC2R | c.507C>G (p.Ser169=) | gnomAD v4 |
| 18 | g.13885012G= | CA2285919379 | MC2R | c.507C= (p.Ser169=) | |
| 18 | g.13885012G>T | CA296828756 | MC2R | c.507C>A (p.Ser169=) | dbSNP |
| 18 | g.13885013G>A | CA401995118 | MC2R | c.506C>T (p.Ser169Phe) | gnomAD v4 |
| 18 | g.13885013G>C | CA401995116 | MC2R | c.506C>G (p.Ser169Cys) | |
| 18 | g.13885013G>T | CA401995117 | MC2R | c.506C>A (p.Ser169Tyr) | |
| 18 | g.13885014A>C | CA401995119 | MC2R | c.505T>G (p.Ser169Ala) | |
| 18 | g.13885014A>G | CA401995120 | MC2R | c.505T>C (p.Ser169Pro) | |
| 18 | g.13885014A>T | CA401995121 | MC2R | c.505T>A (p.Ser169Thr) | |
| 18 | g.13885017_13885019del | CA2641148014 | MC2R | c.503_505del (p.Phe168del) | gnomAD v4 |
| 18 | g.13885015G>A | CA503248135 | MC2R | c.504C>T (p.Phe168=) | gnomAD v4 |
| 18 | g.13885015G>C | CA401995122 | MC2R | c.504C>G (p.Phe168Leu) | |
| 18 | g.13885015G>T | CA401995123 | MC2R | c.504C>A (p.Phe168Leu) | |
| 18 | g.13885016A>C | CA401995124 | MC2R | c.503T>G (p.Phe168Cys) | |
| 18 | g.13885016A>G | CA401995126 | MC2R | c.503T>C (p.Phe168Ser) | |
| 18 | g.13885016A>T | CA401995125 | MC2R | c.503T>A (p.Phe168Tyr) | |
| 18 | g.13885017A>C | CA401995127 | MC2R | c.502T>G (p.Phe168Val) | |
| 18 | g.13885017A>G | CA401995128 | MC2R | c.502T>C (p.Phe168Leu) | |
| 18 | g.13885017A>T | CA401995129 | MC2R | c.502T>A (p.Phe168Ile) | |
| 18 | g.13885018G>A | CA503248141 | MC2R | c.501C>T (p.Ile167=) | |
| 18 | g.13885018G>C | CA401995130 | MC2R | c.501C>G (p.Ile167Met) | |
| 18 | g.13885018G>T | CA503248143 | MC2R | c.501C>A (p.Ile167=) | |
| 18 | g.13885019A= | CA2285919380 | MC2R | c.500T= (p.Ile167=) | |
| 18 | g.13885019A>C | CA401995132 | MC2R | c.500T>G (p.Ile167Ser) | |
| 18 | g.13885019A>G | CA401995131 | MC2R | c.500T>C (p.Ile167Thr) | |
| 18 | g.13885019A>T | CA8902459 | MC2R | c.500T>A (p.Ile167Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885020T>A | CA401995133 | MC2R | c.499A>T (p.Ile167Phe) | |
| 18 | g.13885020T>C | CA401995134 | MC2R | c.499A>G (p.Ile167Val) | gnomAD v4 |
| 18 | g.13885020T>G | CA401995135 | MC2R | c.499A>C (p.Ile167Leu) | |
| 18 | g.13885021C>A | CA503248150 | MC2R | c.498G>T (p.Val166=) | dbSNP |
| 18 | g.13885021C= | CA2285919381 | MC2R | c.498G= (p.Val166=) | |
| 18 | g.13885021C>G | CA503248154 | MC2R | c.498G>C (p.Val166=) | |
| 18 | g.13885021C>T | CA503248157 | MC2R | c.498G>A (p.Val166=) | gnomAD v4 |
| 18 | g.13885022A>C | CA401995136 | MC2R | c.497T>G (p.Val166Gly) | |
| 18 | g.13885022A>G | CA401995137 | MC2R | c.497T>C (p.Val166Ala) | |
| 18 | g.13885022A>T | CA401995138 | MC2R | c.497T>A (p.Val166Glu) | |
| 18 | g.13885023C>A | CA296828760 | MC2R | c.496G>T (p.Val166Leu) | dbSNP |
| 18 | g.13885023C= | CA2285919382 | MC2R | c.496G= (p.Val166=) | |
| 18 | g.13885023C>G | CA401995139 | MC2R | c.496G>C (p.Val166Leu) | |
| 18 | g.13885023C>T | CA401995140 | MC2R | c.496G>A (p.Val166Met) | |
| 18 | g.13885024C>A | CA401995141 | MC2R | c.495G>T (p.Met165Ile) | COSMIC |
| 18 | g.13885024C= | CA2285919383 | MC2R | c.495G= (p.Met165=) | |
| 18 | g.13885024C>G | CA401995142 | MC2R | c.495G>C (p.Met165Ile) | |
| 18 | g.13885024C>T | CA401995143 | MC2R | c.495G>A (p.Met165Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885025A= | CA2285919384 | MC2R | c.494T= (p.Met165=) | |
| 18 | g.13885025A>C | CA401995144 | MC2R | c.494T>G (p.Met165Arg) | |
| 18 | g.13885025A>G | CA8902460 | MC2R | c.494T>C (p.Met165Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885025A>T | CA401995145 | MC2R | c.494T>A (p.Met165Lys) |