SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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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.13884538G>A | CA2641150726 | MC2R | c.*87C>T (n.*87C>T) | gnomAD v4 |
| 18 | g.13884539G>T | CA2641150727 | MC2R | c.*86C>A (n.*86C>A) | gnomAD v4 |
| 18 | g.13884540A= | CA2285919131 | MC2R | c.*85T= (n.*85T=) | |
| 18 | g.13884540A>C | CA296828428 | MC2R | c.*85T>G (n.*85T>G) | dbSNP |
| 18 | g.13884540A>G | CA2285919132 | MC2R | c.*85T>C (n.*85T>C) | dbSNP gnomAD v4 |
| 18 | g.13884541G>A | CA296828431 | MC2R | c.*84C>T (n.*84C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884541G>C | CA2641150728 | MC2R | c.*84C>G (n.*84C>G) | gnomAD v4 |
| 18 | g.13884541G= | CA2285919133 | MC2R | c.*84C= (n.*84C=) | |
| 18 | g.13884541G>T | CA2641150729 | MC2R | c.*84C>A (n.*84C>A) | gnomAD v4 |
| 18 | g.13884542C= | CA2285919134 | MC2R | c.*83G= (n.*83G=) | |
| 18 | g.13884542C>T | CA296828433 | MC2R | c.*83G>A (n.*83G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884543A= | CA2285919135 | MC2R | c.*82T= (n.*82T=) | |
| 18 | g.13884543A>C | CA296828436 | MC2R | c.*82T>G (n.*82T>G) | dbSNP gnomAD v4 |
| 18 | g.13884543A>G | CA2641150730 | MC2R | c.*82T>C (n.*82T>C) | gnomAD v4 |
| 18 | g.13884543A>T | CA2576463976 | MC2R | c.*82T>A (n.*82T>A) | |
| 18 | g.13884544C>A | CA2841565742 | MC2R | c.*81G>T (n.*81G>T) | |
| 18 | g.13884544C= | CA2285919136 | MC2R | c.*81G= (n.*81G=) | |
| 18 | g.13884544C>T | CA657538008 | MC2R | c.*81G>A (n.*81G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884545T>C | CA2641150731 | MC2R | c.*80A>G (n.*80A>G) | gnomAD v4 |
| 18 | g.13884545T>G | CA2841565743 | MC2R | c.*80A>C (n.*80A>C) | |
| 18 | g.13884546G>T | CA2576463977 | MC2R | c.*79C>A (n.*79C>A) | gnomAD v4 |
| 18 | g.13884547del | CA2641150732 | MC2R | c.*79del (n.*79del) | gnomAD v4 |
| 18 | g.13884547G>A | CA2641150734 | MC2R | c.*78C>T (n.*78C>T) | gnomAD v4 |
| 18 | g.13884547G>T | CA2641150733 | MC2R | c.*78C>A (n.*78C>A) | gnomAD v4 |
| 18 | g.13884548C= | CA2285919137 | MC2R | c.*77G= (n.*77G=) | |
| 18 | g.13884548C>T | CA776350588 | MC2R | c.*77G>A (n.*77G>A) | dbSNP |
| 18 | g.13884549A>G | CA2811045687 | MC2R | c.*76T>C (n.*76T>C) | |
| 18 | g.13884550T>C | CA2811045688 | MC2R | c.*75A>G (n.*75A>G) | |
| 18 | g.13884550T>G | CA2641150735 | MC2R | c.*75A>C (n.*75A>C) | gnomAD v4 |
| 18 | g.13884551T>G | CA2641150736 | MC2R | c.*74A>C (n.*74A>C) | gnomAD v4 |
| 18 | g.13884553G>T | CA2576463978 | MC2R | c.*72C>A (n.*72C>A) | gnomAD v4 |
| 18 | g.13884554T>C | CA2285919139 | MC2R | c.*71A>G (n.*71A>G) | dbSNP gnomAD v4 |
| 18 | g.13884554T= | CA2285919138 | MC2R | c.*71A= (n.*71A=) | |
| 18 | g.13884556G>A | CA296828438 | MC2R | c.*69C>T (n.*69C>T) | dbSNP gnomAD v4 |
| 18 | g.13884556G= | CA2285919140 | MC2R | c.*69C= (n.*69C=) | |
| 18 | g.13884556G>T | CA2576463979 | MC2R | c.*69C>A (n.*69C>A) | gnomAD v4 |
| 18 | g.13884557G= | CA2285919141 | MC2R | c.*68C= (n.*68C=) | |
| 18 | g.13884557G>T | CA2285919142 | MC2R | c.*68C>A (n.*68C>A) | dbSNP gnomAD v4 |
| 18 | g.13884558A>T | CA2641150737 | MC2R | c.*67T>A (n.*67T>A) | gnomAD v4 |
| 18 | g.13884559A>C | CA2641150738 | MC2R | c.*66T>G (n.*66T>G) | gnomAD v4 |
| 18 | g.13884559A>T | CA2641150739 | MC2R | c.*66T>A (n.*66T>A) | gnomAD v4 |
| 18 | g.13884560T>A | CA2734686331 | MC2R | c.*65A>T (n.*65A>T) | dbSNP |
| 18 | g.13884561G>A | CA2641150740 | MC2R | c.*64C>T (n.*64C>T) | gnomAD v4 |
| 18 | g.13884561G>C | CA296828440 | MC2R | c.*64C>G (n.*64C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884561G= | CA2285919143 | MC2R | c.*64C= (n.*64C=) | |
| 18 | g.13884561G>T | CA2641150741 | MC2R | c.*64C>A (n.*64C>A) | gnomAD v4 |
| 18 | g.13884563T>G | CA2285919145 | MC2R | c.*62A>C (n.*62A>C) | dbSNP |
| 18 | g.13884563T= | CA2285919144 | MC2R | c.*62A= (n.*62A=) | |
| 18 | g.13884564A= | CA2285919146 | MC2R | c.*61T= (n.*61T=) | |
| 18 | g.13884564A>G | CA628496347 | MC2R | c.*61T>C (n.*61T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884564A>T | CA2841565744 | MC2R | c.*61T>A (n.*61T>A) | |
| 18 | g.13884565C>T | CA2838517926 | MC2R | c.*60G>A (n.*60G>A) | |
| 18 | g.13884566A= | CA2285919147 | MC2R | c.*59T= (n.*59T=) | |
| 18 | g.13884566A>G | CA2641150742 | MC2R | c.*59T>C (n.*59T>C) | gnomAD v4 |
| 18 | g.13884566A>T | CA2285919148 | MC2R | c.*59T>A (n.*59T>A) | dbSNP gnomAD v4 |
| 18 | g.13884567C>A | CA2581337885 | MC2R | c.*58G>T (n.*58G>T) | |
| 18 | g.13884567C= | CA2285919149 | MC2R | c.*58G= (n.*58G=) | |
| 18 | g.13884567C>G | CA988024961 | MC2R | c.*58G>C (n.*58G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884567C>T | CA10650582 | MC2R | c.*58G>A (n.*58G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884569del | CA2641150743 | MC2R | c.*56del (n.*56del) | dbSNP gnomAD v4 |
| 18 | g.13884571T>C | CA2641150744 | MC2R | c.*54A>G (n.*54A>G) | dbSNP gnomAD v4 |
| 18 | g.13884572C>A | CA2641150745 | MC2R | c.*53G>T (n.*53G>T) | gnomAD v4 |
| 18 | g.13884572C= | CA2285919150 | MC2R | c.*53G= (n.*53G=) | |
| 18 | g.13884572C>T | CA776350605 | MC2R | c.*53G>A (n.*53G>A) | dbSNP gnomAD v4 |
| 18 | g.13884574G>A | CA8902361 | MC2R | c.*51C>T (n.*51C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884574G= | CA2285919151 | MC2R | c.*51C= (n.*51C=) | |
| 18 | g.13884574G>T | CA2576463980 | MC2R | c.*51C>A (n.*51C>A) | gnomAD v4 |
| 18 | g.13884575G>A | CA296828445 | MC2R | c.*50C>T (n.*50C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884575G= | CA2285919152 | MC2R | c.*50C= (n.*50C=) | |
| 18 | g.13884575G>T | CA2641150746 | MC2R | c.*50C>A (n.*50C>A) | gnomAD v4 |
| 18 | g.13884578C>A | CA2285919153 | MC2R | c.*47G>T (n.*47G>T) | dbSNP gnomAD v4 |
| 18 | g.13884578C= | CA2285919154 | MC2R | c.*47G= (n.*47G=) | |
| 18 | g.13884578C>T | CA2641150747 | MC2R | c.*47G>A (n.*47G>A) | gnomAD v4 |
| 18 | g.13884578_13884579delinsCT | CA2285919155 | MC2R | c.*46_*47delinsAG (n.*46_*47delinsAG) | |
| 18 | g.13884579T>G | CA2641150748 | MC2R | c.*46A>C (n.*46A>C) | gnomAD v4 |
| 18 | g.13884580del | CA8902362 | MC2R | c.*46del (n.*46del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884581G>T | CA2641150749 | MC2R | c.*44C>A (n.*44C>A) | gnomAD v4 |
| 18 | g.13884582G>A | CA2576463981 | MC2R | c.*43C>T (n.*43C>T) | gnomAD v4 |
| 18 | g.13884582G>T | CA2641150750 | MC2R | c.*43C>A (n.*43C>A) | gnomAD v4 |
| 18 | g.13884583C>A | CA2561246026 | MC2R | c.*42G>T (n.*42G>T) | gnomAD v4 |
| 18 | g.13884583C= | CA2285919156 | MC2R | c.*42G= (n.*42G=) | |
| 18 | g.13884583C>T | CA628496348 | MC2R | c.*42G>A (n.*42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884584A>G | CA2641150751 | MC2R | c.*41T>C (n.*41T>C) | gnomAD v4 |
| 18 | g.13884586C>A | CA2285919158 | MC2R | c.*39G>T (n.*39G>T) | dbSNP |
| 18 | g.13884586C= | CA2285919157 | MC2R | c.*39G= (n.*39G=) | |
| 18 | g.13884586C>T | CA8902363 | MC2R | c.*39G>A (n.*39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884587G>A | CA988024993 | MC2R | c.*38C>T (n.*38C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884587G>C | CA988025004 | MC2R | c.*38C>G (n.*38C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884587G= | CA2285919159 | MC2R | c.*38C= (n.*38C=) | |
| 18 | g.13884587G>T | CA2838517927 | MC2R | c.*38C>A (n.*38C>A) | |
| 18 | g.13884590A= | CA2285919160 | MC2R | c.*35T= (n.*35T=) | |
| 18 | g.13884590A>G | CA2641150752 | MC2R | c.*35T>C (n.*35T>C) | gnomAD v4 |
| 18 | g.13884590A>T | CA776350613 | MC2R | c.*35T>A (n.*35T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884591T>C | CA657538009 | MC2R | c.*34A>G (n.*34A>G) | COSMIC |
| 18 | g.13884592T>G | CA2641150753 | MC2R | c.*33A>C (n.*33A>C) | gnomAD v4 |
| 18 | g.13884593C>A | CA2641150754 | MC2R | c.*32G>T (n.*32G>T) | gnomAD v4 |
| 18 | g.13884593C= | CA2285919161 | MC2R | c.*32G= (n.*32G=) | |
| 18 | g.13884593C>G | CA628496349 | MC2R | c.*32G>C (n.*32G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884593C>T | CA8902364 | MC2R | c.*32G>A (n.*32G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884594C= | CA2285919162 | MC2R | c.*31G= (n.*31G=) | |
| 18 | g.13884594C>T | CA628496350 | MC2R | c.*31G>A (n.*31G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884595C>A | CA2641150755 | MC2R | c.*30G>T (n.*30G>T) | gnomAD v4 |
| 18 | g.13884596A= | CA2285919163 | MC2R | c.*29T= (n.*29T=) | |
| 18 | g.13884596A>G | CA8902365 | MC2R | c.*29T>C (n.*29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884597T>C | CA2641150756 | MC2R | c.*28A>G (n.*28A>G) | gnomAD v4 |
| 18 | g.13884597_13884598delinsTG | CA2285919164 | MC2R | c.*27_*28delinsCA (n.*27_*28delinsCA) | |
| 18 | g.13884598G>A | CA10650584 | MC2R | c.*27C>T (n.*27C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884598G= | CA2285919165 | MC2R | c.*27C= (n.*27C=) | |
| 18 | g.13884599del | CA628496351 | MC2R | c.*27del (n.*27del) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884599G>A | CA2641150757 | MC2R | c.*26C>T (n.*26C>T) | gnomAD v4 |
| 18 | g.13884599G>C | CA2734686692 | MC2R | c.*26C>G (n.*26C>G) | dbSNP |
| 18 | g.13884599G>T | CA2839675678 | MC2R | c.*26C>A (n.*26C>A) | |
| 18 | g.13884600A>C | CA2641150758 | MC2R | c.*25T>G (n.*25T>G) | gnomAD v4 |
| 18 | g.13884600A>T | CA2641150759 | MC2R | c.*25T>A (n.*25T>A) | gnomAD v4 |
| 18 | g.13884602T>A | CA2641150760 | MC2R | c.*23A>T (n.*23A>T) | gnomAD v4 |
| 18 | g.13884602T>G | CA2285919167 | MC2R | c.*23A>C (n.*23A>C) | dbSNP |
| 18 | g.13884602T= | CA2285919166 | MC2R | c.*23A= (n.*23A=) | |
| 18 | g.13884603C>A | CA2641150761 | MC2R | c.*22G>T (n.*22G>T) | gnomAD v4 |
| 18 | g.13884603_13884604delinsCT | CA2285919168 | MC2R | c.*21_*22delinsAG (n.*21_*22delinsAG) | |
| 18 | g.13884604del | CA2285919169 | MC2R | c.*21del (n.*21del) | dbSNP |
| 18 | g.13884604T>C | CA8902366 | MC2R | c.*21A>G (n.*21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884604T>G | CA776350624 | MC2R | c.*21A>C (n.*21A>C) | dbSNP |
| 18 | g.13884604T= | CA2285919170 | MC2R | c.*21A= (n.*21A=) | |
| 18 | g.13884605A= | CA2285919171 | MC2R | c.*20T= (n.*20T=) | |
| 18 | g.13884605A>G | CA628496352 | MC2R | c.*20T>C (n.*20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884605A>T | CA2501464509 | MC2R | c.*20T>A (n.*20T>A) | |
| 18 | g.13884606_13884612delinsAAACCAG | CA2285919172 | MC2R | c.*13_*19delinsCTGGTTT (n.*13_*19delinsCTGGTTT) | |
| 18 | g.13884607_13884612del | CA2285919173 | MC2R | c.*13_*18del (n.*13_*18del) | dbSNP |
| 18 | g.13884608A>G | CA2811045692 | MC2R | c.*17T>C (n.*17T>C) | |
| 18 | g.13884609C= | CA2285919174 | MC2R | c.*16G= (n.*16G=) | |
| 18 | g.13884609C>G | CA8902367 | MC2R | c.*16G>C (n.*16G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884609C>T | CA8902368 | MC2R | c.*16G>A (n.*16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884610C>A | CA8902370 | MC2R | c.*15G>T (n.*15G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884610C= | CA2285919175 | MC2R | c.*15G= (n.*15G=) | |
| 18 | g.13884610C>G | CA8902369 | MC2R | c.*15G>C (n.*15G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884610C>T | CA628496353 | MC2R | c.*15G>A (n.*15G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884611A>G | CA2811045693 | MC2R | c.*14T>C (n.*14T>C) | |
| 18 | g.13884612G>A | CA2285919177 | MC2R | c.*13C>T (n.*13C>T) | dbSNP |
| 18 | g.13884612G>C | CA2734334612 | MC2R | c.*13C>G (n.*13C>G) | dbSNP |
| 18 | g.13884612G= | CA2285919176 | MC2R | c.*13C= (n.*13C=) | |
| 18 | g.13884613G>A | CA8902371 | MC2R | c.*12C>T (n.*12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884613G>C | CA2641150762 | MC2R | c.*12C>G (n.*12C>G) | gnomAD v4 |
| 18 | g.13884613G= | CA2285919178 | MC2R | c.*12C= (n.*12C=) | |
| 18 | g.13884613G>T | CA8902372 | MC2R | c.*12C>A (n.*12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884614G>A | CA2576463982 | MC2R | c.*11C>T (n.*11C>T) | |
| 18 | g.13884614G>C | CA2501463134 | MC2R | c.*11C>G (n.*11C>G) | gnomAD v4 |
| 18 | g.13884614G= | CA2285919179 | MC2R | c.*11C= (n.*11C=) | |
| 18 | g.13884614G>T | CA8902373 | MC2R | c.*11C>A (n.*11C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884614_13884615delinsGA | CA2285919180 | MC2R | c.*10_*11delinsTC (n.*10_*11delinsTC) | |
| 18 | g.13884615del | CA8902374 | MC2R | c.*10del (n.*10del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884615A= | CA2285919182 | MC2R | c.*10T= (n.*10T=) | |
| 18 | g.13884615A>G | CA2285919181 | MC2R | c.*10T>C (n.*10T>C) | dbSNP gnomAD v4 |
| 18 | g.13884616T>C | CA8902375 | MC2R | c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884616T= | CA2285919183 | MC2R | c.*9A= (n.*9A=) | |
| 18 | g.13884617C= | CA2285919184 | MC2R | c.*8G= (n.*8G=) | |
| 18 | g.13884617C>G | CA2285919185 | MC2R | c.*8G>C (n.*8G>C) | dbSNP |
| 18 | g.13884617C>T | CA2576463983 | MC2R | c.*8G>A (n.*8G>A) | |
| 18 | g.13884619G>A | CA2641150763 | MC2R | c.*6C>T (n.*6C>T) | gnomAD v4 |
| 18 | g.13884620C>A | CA2641150764 | MC2R | c.*5G>T (n.*5G>T) | gnomAD v4 |
| 18 | g.13884620C>G | CA2576463984 | MC2R | c.*5G>C (n.*5G>C) | |
| 18 | g.13884620C>T | CA2841565745 | MC2R | c.*5G>A (n.*5G>A) | |
| 18 | g.13884621C= | CA2285919186 | MC2R | c.*4G= (n.*4G=) | |
| 18 | g.13884621C>T | CA296828494 | MC2R | c.*4G>A (n.*4G>A) | dbSNP gnomAD v4 |
| 18 | g.13884622A>C | CA2641150765 | MC2R | c.*3T>G (n.*3T>G) | gnomAD v4 |
| 18 | g.13884622A>G | CA2641150766 | MC2R | c.*3T>C (n.*3T>C) | gnomAD v4 |
| 18 | g.13884622A>T | CA2641150767 | MC2R | c.*3T>A (n.*3T>A) | gnomAD v4 |
| 18 | g.13884625C>A | CA401993469 | MC2R | c.894G>T (p.Ter298Tyr) | gnomAD v4 |
| 18 | g.13884625C= | CA2285919187 | MC2R | c.894G= (p.Ter298=) | |
| 18 | g.13884625C>G | CA401993467 | MC2R | c.894G>C (p.Ter298Tyr) | |
| 18 | g.13884625C>T | CA8902376 | MC2R | c.894G>A (p.Ter298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884626T>A | CA401993471 | MC2R | c.893A>T (p.Ter298Leu) | |
| 18 | g.13884626T>C | CA401993473 | MC2R | c.893A>G (p.Ter298Trp) | |
| 18 | g.13884626T>G | CA401993475 | MC2R | c.893A>C (p.Ter298Ser) | |
| 18 | g.13884627A>C | CA401993477 | MC2R | c.892T>G (p.Ter298Glu) | |
| 18 | g.13884627A>G | CA401993480 | MC2R | c.892T>C (p.Ter298Gln) | gnomAD v4 |
| 18 | g.13884627A>T | CA401993481 | MC2R | c.892T>A (p.Ter298Lys) | |
| 18 | g.13884628C>A | CA401993482 | MC2R | c.891G>T (p.Trp297Cys) | |
| 18 | g.13884628C>G | CA401993484 | MC2R | c.891G>C (p.Trp297Cys) | |
| 18 | g.13884628C>T | CA401993483 | MC2R | c.891G>A (p.Trp297Ter) | |
| 18 | g.13884629C>A | CA401993487 | MC2R | c.890G>T (p.Trp297Leu) | dbSNP |
| 18 | g.13884629C= | CA2285919188 | MC2R | c.890G= (p.Trp297=) | |
| 18 | g.13884629C>G | CA401993489 | MC2R | c.890G>C (p.Trp297Ser) | |
| 18 | g.13884629C>T | CA401993490 | MC2R | c.890G>A (p.Trp297Ter) | gnomAD v4 |
| 18 | g.13884630A>C | CA401993491 | MC2R | c.889T>G (p.Trp297Gly) | |
| 18 | g.13884630A>G | CA401993492 | MC2R | c.889T>C (p.Trp297Arg) | ClinVar dbSNP |
| 18 | g.13884630A>T | CA401993494 | MC2R | c.889T>A (p.Trp297Arg) | |
| 18 | g.13884631G>A | CA503010646 | MC2R | c.888C>T (p.Tyr296=) | |
| 18 | g.13884631G>C | CA401993498 | MC2R | c.888C>G (p.Tyr296Ter) | |
| 18 | g.13884631G>T | CA401993497 | MC2R | c.888C>A (p.Tyr296Ter) | |
| 18 | g.13884632T>A | CA401993502 | MC2R | c.887A>T (p.Tyr296Phe) | |
| 18 | g.13884632T>C | CA8902378 | MC2R | c.887A>G (p.Tyr296Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884632T>G | CA8902377 | MC2R | c.887A>C (p.Tyr296Ser) | dbSNP ExAC gnomAD v2 |
| 18 | g.13884632T= | CA2285919189 | MC2R | c.887A= (p.Tyr296=) | |
| 18 | g.13884633A>C | CA401993506 | MC2R | c.886T>G (p.Tyr296Asp) | |
| 18 | g.13884633A>G | CA401993508 | MC2R | c.886T>C (p.Tyr296His) | COSMIC |
| 18 | g.13884633A>T | CA401993510 | MC2R | c.886T>A (p.Tyr296Asn) | |
| 18 | g.13884633_13884634delinsAC | CA2285919190 | MC2R | c.885_886delinsGT (p.Arg295=) | |
| 18 | g.13884634C>A | CA401993513 | MC2R | c.885G>T (p.Arg295Ser) | |
| 18 | g.13884634C= | CA2285919192 | MC2R | c.885G= (p.Arg295=) | |
| 18 | g.13884634C>G | CA401993515 | MC2R | c.885G>C (p.Arg295Ser) | |
| 18 | g.13884634C>T | CA8902379 | MC2R | c.885G>A (p.Arg295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884635del | CA2285919191 | MC2R | c.885del (p.Arg295SerfsTer11) | dbSNP gnomAD v4 |
| 18 | g.13884635C>A | CA401993516 | MC2R | c.884G>T (p.Arg295Met) | |
| 18 | g.13884635C= | CA2285919193 | MC2R | c.884G= (p.Arg295=) | |
| 18 | g.13884635C>G | CA401993517 | MC2R | c.884G>C (p.Arg295Thr) | |
| 18 | g.13884635C>T | CA8902380 | MC2R | c.884G>A (p.Arg295Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884636T>A | CA401993520 | MC2R | c.883A>T (p.Arg295Trp) | |
| 18 | g.13884636T>C | CA401993521 | MC2R | c.883A>G (p.Arg295Gly) | |
| 18 | g.13884636T>G | CA503010647 | MC2R | c.883A>C (p.Arg295=) | |
| 18 | g.13884637G>A | CA8902381 | MC2R | c.882C>T (p.Ser294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884637G>C | CA401993524 | MC2R | c.882C>G (p.Ser294Arg) | dbSNP |
| 18 | g.13884637G= | CA2285919194 | MC2R | c.882C= (p.Ser294=) | |
| 18 | g.13884637G>T | CA401993525 | MC2R | c.882C>A (p.Ser294Arg) | |
| 18 | g.13884638C>A | CA401993528 | MC2R | c.881G>T (p.Ser294Ile) | |
| 18 | g.13884638C= | CA2285919195 | MC2R | c.881G= (p.Ser294=) | |
| 18 | g.13884638C>G | CA401993529 | MC2R | c.881G>C (p.Ser294Thr) | |
| 18 | g.13884638C>T | CA8902382 | MC2R | c.881G>A (p.Ser294Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |