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.60371338G>A | CA630399118 | MC4R | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371338G>C | CA2576516482 | MC4R | c.*13C>G (n.*13C>G) | gnomAD v4 |
| 18 | g.60371338G= | CA2307358901 | MC4R | c.*13C= (n.*13C=) | |
| 18 | g.60371338G>T | CA657277937 | MC4R | c.*13C>A (n.*13C>A) | COSMIC |
| 18 | g.60371339C= | CA2307358902 | MC4R | c.*12G= (n.*12G=) | |
| 18 | g.60371339C>T | CA990922128 | MC4R | c.*12G>A (n.*12G>A) | dbSNP gnomAD v4 |
| 18 | g.60371340T>C | CA2642029287 | MC4R | c.*11A>G (n.*11A>G) | gnomAD v4 |
| 18 | g.60371342T>C | CA8980793 | MC4R | c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371342T= | CA2307358903 | MC4R | c.*9A= (n.*9A=) | |
| 18 | g.60371343G>A | CA2642029288 | MC4R | c.*8C>T (n.*8C>T) | gnomAD v4 |
| 18 | g.60371343G>C | CA2642029289 | MC4R | c.*8C>G (n.*8C>G) | gnomAD v4 |
| 18 | g.60371343G>T | CA2642029290 | MC4R | c.*8C>A (n.*8C>A) | gnomAD v4 |
| 18 | g.60371344T>C | CA630399119 | MC4R | c.*7A>G (n.*7A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371344T>G | CA2307358905 | MC4R | c.*7A>C (n.*7A>C) | dbSNP gnomAD v4 |
| 18 | g.60371344T= | CA2307358904 | MC4R | c.*7A= (n.*7A=) | |
| 18 | g.60371345C>T | CA2576516483 | MC4R | c.*6G>A (n.*6G>A) | |
| 18 | g.60371346C= | CA2307358906 | MC4R | c.*5G= (n.*5G=) | |
| 18 | g.60371346C>T | CA2307358907 | MC4R | c.*5G>A (n.*5G>A) | dbSNP gnomAD v4 |
| 18 | g.60371347C>G | CA2576516484 | MC4R | c.*4G>C (n.*4G>C) | gnomAD v4 |
| 18 | g.60371347C>T | CA2642029291 | MC4R | c.*4G>A (n.*4G>A) | gnomAD v4 |
| 18 | g.60371348C>A | CA2307358910 | MC4R | c.*3G>T (n.*3G>T) | dbSNP |
| 18 | g.60371348C= | CA2307358908 | MC4R | c.*3G= (n.*3G=) | |
| 18 | g.60371348C>T | CA2307358909 | MC4R | c.*3G>A (n.*3G>A) | dbSNP |
| 18 | g.60371349A>G | CA2642029292 | MC4R | c.*2T>C (n.*2T>C) | gnomAD v4 |
| 18 | g.60371349_60371350delinsAT | CA2307358911 | MC4R | c.*1_*2delinsAT (n.*1_*2delinsAT) | |
| 18 | g.60371350T>C | CA630399120 | MC4R | c.*1A>G (n.*1A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371350T= | CA2307358912 | MC4R | c.*1A= (n.*1A=) | |
| 18 | g.60371352del | CA2307358913 | MC4R | c.*1del (n.*1del) | dbSNP |
| 18 | g.60371351T>A | CA402718629 | MC4R | c.999A>T (p.Ter333Tyr) | |
| 18 | g.60371351T>C | CA504304906 | MC4R | c.999A>G (p.Ter333=) | COSMIC |
| 18 | g.60371351T>G | CA402718630 | MC4R | c.999A>C (p.Ter333Tyr) | |
| 18 | g.60371351_60371356delinsTTAATA | CA2307358914 | MC4R | c.994_999delinsTATTAA (p.Tyr332=) | |
| 18 | g.60371352T>A | CA402718631 | MC4R | c.998A>T (p.Ter333Leu) | |
| 18 | g.60371352T>C | CA504304909 | MC4R | c.998A>G (p.Ter333=) | |
| 18 | g.60371352T>G | CA402718632 | MC4R | c.998A>C (p.Ter333Ser) | |
| 18 | g.60371353_60371357del | CA781080795 | MC4R | c.994_998del (p.Tyr332AsnfsTer?) | dbSNP |
| 18 | g.60371353A>C | CA402718633 | MC4R | c.997T>G (p.Ter333Glu) | |
| 18 | g.60371353A>G | CA402718634 | MC4R | c.997T>C (p.Ter333Gln) | |
| 18 | g.60371353A>T | CA402718635 | MC4R | c.997T>A (p.Ter333Lys) | |
| 18 | g.60371354A>C | CA402718637 | MC4R | c.996T>G (p.Tyr332Ter) | |
| 18 | g.60371354A>G | CA504304913 | MC4R | c.996T>C (p.Tyr332=) | gnomAD v4 |
| 18 | g.60371354A>T | CA402718636 | MC4R | c.996T>A (p.Tyr332Ter) | |
| 18 | g.60371355T>A | CA402718638 | MC4R | c.995A>T (p.Tyr332Phe) | |
| 18 | g.60371355T>C | CA402718639 | MC4R | c.995A>G (p.Tyr332Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371355T>G | CA402718640 | MC4R | c.995A>C (p.Tyr332Ser) | |
| 18 | g.60371355T= | CA2307358915 | MC4R | c.995A= (p.Tyr332=) | |
| 18 | g.60371356A= | CA2307358916 | MC4R | c.994T= (p.Tyr332=) | |
| 18 | g.60371356A>C | CA402718641 | MC4R | c.994T>G (p.Tyr332Asp) | |
| 18 | g.60371356A>G | CA8980794 | MC4R | c.994T>C (p.Tyr332His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371356A>T | CA402718642 | MC4R | c.994T>A (p.Tyr332Asn) | |
| 18 | g.60371357T>A | CA402718643 | MC4R | c.993A>T (p.Arg331Ser) | |
| 18 | g.60371357T>C | CA504304915 | MC4R | c.993A>G (p.Arg331=) | |
| 18 | g.60371357T>G | CA402718644 | MC4R | c.993A>C (p.Arg331Ser) | |
| 18 | g.60371358C>A | CA402718645 | MC4R | c.992G>T (p.Arg331Ile) | gnomAD v4 |
| 18 | g.60371358C= | CA2307358917 | MC4R | c.992G= (p.Arg331=) | |
| 18 | g.60371358C>G | CA402718646 | MC4R | c.992G>C (p.Arg331Thr) | |
| 18 | g.60371358C>T | CA402718647 | MC4R | c.992G>A (p.Arg331Lys) | dbSNP gnomAD v4 |
| 18 | g.60371359T>A | CA402718648 | MC4R | c.991A>T (p.Arg331Ter) | |
| 18 | g.60371359T>C | CA402718649 | MC4R | c.991A>G (p.Arg331Gly) | |
| 18 | g.60371359T>G | CA504304919 | MC4R | c.991A>C (p.Arg331=) | dbSNP gnomAD v4 |
| 18 | g.60371359T= | CA2307358918 | MC4R | c.991A= (p.Arg331=) | |
| 18 | g.60371360G>A | CA504304921 | MC4R | c.990C>T (p.Ser330=) | |
| 18 | g.60371360G>C | CA402718651 | MC4R | c.990C>G (p.Ser330Arg) | |
| 18 | g.60371360G>T | CA402718650 | MC4R | c.990C>A (p.Ser330Arg) | |
| 18 | g.60371361C>A | CA402718652 | MC4R | c.989G>T (p.Ser330Ile) | dbSNP gnomAD v4 |
| 18 | g.60371361C= | CA2307358919 | MC4R | c.989G= (p.Ser330=) | |
| 18 | g.60371361C>G | CA402718654 | MC4R | c.989G>C (p.Ser330Thr) | |
| 18 | g.60371361C>T | CA402718653 | MC4R | c.989G>A (p.Ser330Asn) | |
| 18 | g.60371362T>A | CA402718655 | MC4R | c.988A>T (p.Ser330Cys) | |
| 18 | g.60371362T>C | CA402718656 | MC4R | c.988A>G (p.Ser330Gly) | |
| 18 | g.60371362T>G | CA402718657 | MC4R | c.988A>C (p.Ser330Arg) | |
| 18 | g.60371363A>C | CA504304926 | MC4R | c.987T>G (p.Ser329=) | |
| 18 | g.60371363A>G | CA504304928 | MC4R | c.987T>C (p.Ser329=) | gnomAD v4 |
| 18 | g.60371363A>T | CA504304927 | MC4R | c.987T>A (p.Ser329=) | |
| 18 | g.60371364G>A | CA8980795 | MC4R | c.986C>T (p.Ser329Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371364G>C | CA402718658 | MC4R | c.986C>G (p.Ser329Cys) | gnomAD v4 |
| 18 | g.60371364G= | CA2307358920 | MC4R | c.986C= (p.Ser329=) | |
| 18 | g.60371364G>T | CA402718659 | MC4R | c.986C>A (p.Ser329Tyr) | |
| 18 | g.60371365A= | CA2307358921 | MC4R | c.985T= (p.Ser329=) | |
| 18 | g.60371365A>C | CA402718660 | MC4R | c.985T>G (p.Ser329Ala) | gnomAD v4 |
| 18 | g.60371365A>G | CA8980796 | MC4R | c.985T>C (p.Ser329Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371365A>T | CA402718661 | MC4R | c.985T>A (p.Ser329Thr) | |
| 18 | g.60371366C>A | CA402718662 | MC4R | c.984G>T (p.Leu328Phe) | |
| 18 | g.60371366C>G | CA402718663 | MC4R | c.984G>C (p.Leu328Phe) | |
| 18 | g.60371366C>T | CA504304941 | MC4R | c.984G>A (p.Leu328=) | gnomAD v4 |
| 18 | g.60371367A= | CA2307358922 | MC4R | c.983T= (p.Leu328=) | |
| 18 | g.60371367A>C | CA402718665 | MC4R | c.983T>G (p.Leu328Trp) | |
| 18 | g.60371367A>G | CA402718664 | MC4R | c.983T>C (p.Leu328Ser) | |
| 18 | g.60371367A>T | CA8980797 | MC4R | c.983T>A (p.Leu328Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371368A>C | CA402718666 | MC4R | c.982T>G (p.Leu328Val) | |
| 18 | g.60371368A>G | CA504304946 | MC4R | c.982T>C (p.Leu328=) | |
| 18 | g.60371368A>T | CA402718667 | MC4R | c.982T>A (p.Leu328Met) | |
| 18 | g.60371369_60371372del | CA2642029293 | MC4R | c.979_982del (p.Asp327CysfsTer27) c.979_982del (p.Asp327CysfsTer?) | gnomAD v4 |
| 18 | g.60371369G>A | CA504304950 | MC4R | c.981C>T (p.Asp327=) | |
| 18 | g.60371369G>C | CA402718668 | MC4R | c.981C>G (p.Asp327Glu) | gnomAD v4 COSMIC |
| 18 | g.60371369G>T | CA402718669 | MC4R | c.981C>A (p.Asp327Glu) | |
| 18 | g.60371370T>A | CA402718670 | MC4R | c.980A>T (p.Asp327Val) | |
| 18 | g.60371370T>C | CA402718671 | MC4R | c.980A>G (p.Asp327Gly) | |
| 18 | g.60371370T>G | CA402718672 | MC4R | c.980A>C (p.Asp327Ala) | |
| 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=) |