ClinVar Miner

List of variants in gene COQ8A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 623
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.730+260T>C rs1888826 0.89455
NM_020247.4(COQ8A):c.*815C>T rs10495274 0.53093
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_020247.5(COQ8A):c.854-81A>G rs2297412 0.45192
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_020247.5(COQ8A):c.1660-262T>A rs17592479 0.41691
NC_000001.11:g.226987666G>T rs6426558 0.40938
NM_020247.5(COQ8A):c.1573-52G>A rs2297415 0.38619
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_020247.5(COQ8A):c.656-53G>A rs3806263 0.25177
NM_020247.5(COQ8A):c.1398+22G>C rs7530213 0.24477
NM_020247.5(COQ8A):c.1507-59C>T rs1317490 0.19845
NM_020247.5(COQ8A):c.1660-32C>G rs41303131 0.19708
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_020247.5(COQ8A):c.178-309C>T rs12133428 0.13267
NM_020247.5(COQ8A):c.1081-43G>A rs12739480 0.10291
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_020247.5(COQ8A):c.655+258T>C rs75286417 0.04148
NM_020247.5(COQ8A):c.1660-99T>C rs75146933 0.02200
NM_020247.5(COQ8A):c.730+281T>C rs116517333 0.02194
NM_020247.5(COQ8A):c.1163-50T>A rs6690459 0.01981
NM_020247.5(COQ8A):c.854-82C>T rs72760489 0.01393
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_020247.5(COQ8A):c.854-28C>T rs145767302 0.01097
NM_020247.5(COQ8A):c.589-130G>A rs116410904 0.00966
NM_020247.5(COQ8A):c.1660-268A>G rs79118974 0.00899
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_020247.5(COQ8A):c.655+215G>A rs75936420 0.00780
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_020247.5(COQ8A):c.1660-212G>A rs114075249 0.00664
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_020247.5(COQ8A):c.731-255G>A rs115795260 0.00659
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_020247.5(COQ8A):c.853+199G>C rs115291753 0.00658
NM_020247.5(COQ8A):c.178-99G>A rs145473658 0.00656
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_020247.5(COQ8A):c.730+209C>T rs112822132 0.00530
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_020247.5(COQ8A):c.1163-54G>T rs531785041 0.00483
NM_020247.5(COQ8A):c.656-1322T>C rs2989947 0.00460
NM_020247.5(COQ8A):c.731-27G>A rs200907185 0.00351
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_020247.5(COQ8A):c.78C>T (p.His26=) rs150541057 0.00214
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_020247.5(COQ8A):c.*9G>A rs200743857 0.00142
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_020247.5(COQ8A):c.656-36C>T rs76592783 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964 0.00089
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly) rs149364914 0.00071
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_020247.5(COQ8A):c.240C>T (p.His80=) rs113667144 0.00068
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00041
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869 0.00034
NM_020247.5(COQ8A):c.1710C>T (p.Phe570=) rs139305619 0.00029
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584 0.00027
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys) rs149335528 0.00022
NM_020247.5(COQ8A):c.1332C>T (p.Thr444=) rs138727410 0.00019
NM_020247.5(COQ8A):c.385G>A (p.Gly129Arg) rs372953250 0.00018
NM_020247.5(COQ8A):c.1556C>G (p.Thr519Ser) rs141260985 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.730+7C>T rs370924314 0.00016
NM_020247.5(COQ8A):c.1057C>T (p.Arg353Cys) rs373083392 0.00014
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00014
NM_020247.5(COQ8A):c.259G>A (p.Ala87Thr) rs138572539 0.00014
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020247.5(COQ8A):c.891C>T (p.Phe297=) rs55968053 0.00013
NM_020247.5(COQ8A):c.279C>T (p.Phe93=) rs753305806 0.00012
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=) rs36006006 0.00011
NM_020247.5(COQ8A):c.1162+12G>A rs200060496 0.00011
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=) rs543820987 0.00011
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=) rs201865243 0.00011
NM_020247.5(COQ8A):c.525C>T (p.Ala175=) rs201787750 0.00011
NM_020247.5(COQ8A):c.1215G>A (p.Glu405=) rs149048093 0.00010
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met) rs764173526 0.00010
NM_020247.5(COQ8A):c.1014C>T (p.Ala338=) rs374358866 0.00009
NM_020247.5(COQ8A):c.1257-20G>C rs752645843 0.00009
NM_020247.5(COQ8A):c.1409A>G (p.Asn470Ser) rs200800365 0.00009
NM_020247.5(COQ8A):c.1535G>A (p.Arg512Gln) rs200115323 0.00009
NM_020247.5(COQ8A):c.853+13G>A rs374691420 0.00009
NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys) rs202075418 0.00008
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155 0.00008
NM_020247.5(COQ8A):c.794G>A (p.Arg265His) rs199696414 0.00008
NM_020247.5(COQ8A):c.1081-6C>T rs774626751 0.00007
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp) rs201331131 0.00007
NM_020247.5(COQ8A):c.1777G>A (p.Val593Ile) rs774142518 0.00007
NM_020247.5(COQ8A):c.789C>T (p.Ile263=) rs375123701 0.00007
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp) rs541836846 0.00006
NM_020247.5(COQ8A):c.137C>T (p.Thr46Met) rs187123516 0.00006
NM_020247.5(COQ8A):c.1399-14C>T rs148742677 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_020247.5(COQ8A):c.588+4C>T rs368446029 0.00006
NM_020247.5(COQ8A):c.589-13C>T rs202175838 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_020247.5(COQ8A):c.741C>T (p.Ala247=) rs554280397 0.00006
NM_020247.5(COQ8A):c.892G>A (p.Glu298Lys) rs756432144 0.00006
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1246C>T (p.Arg416Cys) rs151292389 0.00005
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=) rs567318021 0.00005
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=) rs773258464 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=) rs747135135 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr) rs147812454 0.00005
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_020247.5(COQ8A):c.1054G>A (p.Gly352Ser) rs536852535 0.00004
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=) rs764541059 0.00004
NM_020247.5(COQ8A):c.1237G>A (p.Ala413Thr) rs751932768 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_020247.5(COQ8A):c.225A>C (p.Pro75=) rs1026870767 0.00004
NM_020247.5(COQ8A):c.357C>T (p.Tyr119=) rs754521569 0.00004
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln) rs145422777 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.818C>T (p.Ala273Val) rs368872986 0.00004
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00003
NM_020247.5(COQ8A):c.1132G>A (p.Val378Met) rs375821684 0.00003
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val) rs773489358 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile) rs778967806 0.00003
NM_020247.5(COQ8A):c.1507-4C>G rs569464425 0.00003
NM_020247.5(COQ8A):c.742G>A (p.Val248Met) rs148376283 0.00003
NM_020247.5(COQ8A):c.771G>A (p.Glu257=) rs371867831 0.00003
NM_020247.5(COQ8A):c.812G>A (p.Arg271His) rs765859566 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020247.5(COQ8A):c.968A>G (p.Asn323Ser) rs781073371 0.00003
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066 0.00002
NM_020247.5(COQ8A):c.1174G>A (p.Glu392Lys) rs760476900 0.00002
NM_020247.5(COQ8A):c.1189G>A (p.Val397Met) rs777934964 0.00002
NM_020247.5(COQ8A):c.1257-9C>T rs200440257 0.00002
NM_020247.5(COQ8A):c.1313G>A (p.Cys438Tyr) rs1659914808 0.00002
NM_020247.5(COQ8A):c.1334C>A (p.Thr445Lys) rs751500793 0.00002
NM_020247.5(COQ8A):c.1507-15T>C rs549578296 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn) rs1026198961 0.00002
NM_020247.5(COQ8A):c.1720G>A (p.Glu574Lys) rs202058665 0.00002
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs) rs772127266 0.00002
NM_020247.5(COQ8A):c.178-8C>T rs200449167 0.00002
NM_020247.5(COQ8A):c.1812G>A (p.Glu604=) rs887556564 0.00002
NM_020247.5(COQ8A):c.1877G>A (p.Arg626His) rs749400284 0.00002
NM_020247.5(COQ8A):c.211A>T (p.Asn71Tyr) rs779601942 0.00002
NM_020247.5(COQ8A):c.309G>A (p.Ala103=) rs1268268386 0.00002
NM_020247.5(COQ8A):c.564C>T (p.Pro188=) rs140897240 0.00002
NM_020247.5(COQ8A):c.588G>A (p.Thr196=) rs758570123 0.00002
NM_020247.5(COQ8A):c.589-18T>C rs143981558 0.00002
NM_020247.5(COQ8A):c.594C>T (p.Ser198=) rs138547552 0.00002
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331 0.00002
NM_020247.5(COQ8A):c.721G>T (p.Asp241Tyr) rs751309113 0.00002
NM_020247.5(COQ8A):c.724C>T (p.Pro242Ser) rs571967614 0.00002
NM_020247.5(COQ8A):c.731-9C>T rs367603340 0.00002
NM_020247.5(COQ8A):c.739G>C (p.Ala247Pro) rs1659727817 0.00002
NM_020247.5(COQ8A):c.853+10C>T rs367945973 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.939+13G>A rs376314702 0.00002
NM_020247.5(COQ8A):c.1021A>G (p.Ile341Val) rs754633292 0.00001
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_020247.5(COQ8A):c.1055G>A (p.Gly352Asp) rs1172666352 0.00001
NM_020247.5(COQ8A):c.1080+16C>T rs534585974 0.00001
NM_020247.5(COQ8A):c.1080+1G>A rs767634570 0.00001
NM_020247.5(COQ8A):c.1090G>A (p.Val364Met) rs371269974 0.00001
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.1140C>T (p.Asn380=) rs367878969 0.00001
NM_020247.5(COQ8A):c.1287T>C (p.Tyr429=) rs1256698126 0.00001
NM_020247.5(COQ8A):c.1325T>G (p.Val442Gly) rs752733827 0.00001
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala) rs750053661 0.00001
NM_020247.5(COQ8A):c.1358T>C (p.Leu453Pro) rs928509224 0.00001
NM_020247.5(COQ8A):c.1383G>C (p.Gln461His) rs747485279 0.00001
NM_020247.5(COQ8A):c.1399-11G>A rs1165462325 0.00001
NM_020247.5(COQ8A):c.1399-12C>T rs377529632 0.00001
NM_020247.5(COQ8A):c.13T>C (p.Leu5=) rs564251019 0.00001
NM_020247.5(COQ8A):c.1506+12G>A rs922061872 0.00001
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) rs1057519343 0.00001
NM_020247.5(COQ8A):c.1599C>A (p.Asp533Glu) rs777584892 0.00001
NM_020247.5(COQ8A):c.1613G>A (p.Arg538Gln) rs768524626 0.00001
NM_020247.5(COQ8A):c.1659+14C>T rs1444332878 0.00001
NM_020247.5(COQ8A):c.1660-14C>T rs1006093394 0.00001
NM_020247.5(COQ8A):c.1702G>T (p.Glu568Ter) rs376478331 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020247.5(COQ8A):c.1746C>T (p.Ser582=) rs750092609 0.00001
NM_020247.5(COQ8A):c.1753G>C (p.Glu585Gln) rs758986425 0.00001
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091 0.00001
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=) rs7545723 0.00001
NM_020247.5(COQ8A):c.1821C>T (p.Tyr607=) rs201618750 0.00001
NM_020247.5(COQ8A):c.1866G>A (p.Lys622=) rs191944347 0.00001
NM_020247.5(COQ8A):c.1919_*1del (p.Tyr640_Ter648delinsXaa) rs763379245 0.00001
NM_020247.5(COQ8A):c.1922G>C (p.Cys641Ser) rs764835684 0.00001
NM_020247.5(COQ8A):c.25A>G (p.Ile9Val) rs529609184 0.00001
NM_020247.5(COQ8A):c.297C>T (p.Pro99=) rs543084403 0.00001
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln) rs751042244 0.00001
NM_020247.5(COQ8A):c.335G>A (p.Ser112Asn) rs147889685 0.00001
NM_020247.5(COQ8A):c.337G>A (p.Glu113Lys) rs765966679 0.00001
NM_020247.5(COQ8A):c.344C>G (p.Pro115Arg) rs746577141 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.471C>G (p.Gly157=) rs913285670 0.00001
NM_020247.5(COQ8A):c.491dup (p.His164fs) rs778247643 0.00001
NM_020247.5(COQ8A):c.493C>G (p.Gln165Glu) rs755181824 0.00001
NM_020247.5(COQ8A):c.503C>A (p.Ser168Tyr) rs748206532 0.00001
NM_020247.5(COQ8A):c.526G>A (p.Glu176Lys) rs776354118 0.00001
NM_020247.5(COQ8A):c.535G>A (p.Glu179Lys) rs931020734 0.00001
NM_020247.5(COQ8A):c.559C>T (p.Arg187Cys) rs761203099 0.00001
NM_020247.5(COQ8A):c.565G>A (p.Glu189Lys) rs755269625 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020247.5(COQ8A):c.589-3C>G rs1229054489 0.00001
NM_020247.5(COQ8A):c.629_630del (p.Arg210fs) rs745867840 0.00001
NM_020247.5(COQ8A):c.696C>T (p.Val232=) rs1000444018 0.00001
NM_020247.5(COQ8A):c.731-8G>A rs762881309 0.00001
NM_020247.5(COQ8A):c.776A>G (p.Asn259Ser) rs1216629181 0.00001
NM_020247.5(COQ8A):c.819G>A (p.Ala273=) rs371866536 0.00001
NM_020247.5(COQ8A):c.854-12C>T rs771911875 0.00001
NM_020247.5(COQ8A):c.854-2A>G rs1338137742 0.00001
NM_020247.5(COQ8A):c.909C>T (p.Ser303=) rs202036077 0.00001
NM_020247.5(COQ8A):c.912G>A (p.Ala304=) rs771956000 0.00001
NM_020247.5(COQ8A):c.940-6C>G rs1221083461 0.00001
NM_020247.5(COQ8A):c.954C>T (p.Asn318=) rs777988947 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NM_020247.5(COQ8A):c.973C>T (p.Arg325Trp) rs565573577 0.00001
NC_000001.10:g.(?_227149087)_(227174438_?)del
NC_000001.10:g.(?_227149087)_(227174438_?)dup
NC_000001.10:g.(?_227165130)_(227174438_?)del
NC_000001.11:g.226987594T>A rs78251168
NC_000001.11:g.226987594T>G rs78251168
NC_000001.11:g.226987720C>T rs7549043
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.1001G>A (p.Arg334Gln) rs759857986
NM_020247.5(COQ8A):c.1003C>T (p.Pro335Ser) rs1487879565
NM_020247.5(COQ8A):c.1008C>G (p.Phe336Leu)
NM_020247.5(COQ8A):c.1008C>T (p.Phe336=)
NM_020247.5(COQ8A):c.1011C>A (p.Ala337=) rs36006006
NM_020247.5(COQ8A):c.1012G>A (p.Ala338Thr)
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1018T>G (p.Ser340Ala) rs2148127790
NM_020247.5(COQ8A):c.1020C>A (p.Ser340=) rs181558991
NM_020247.5(COQ8A):c.1028A>G (p.Gln343Arg) rs863223884
NM_020247.5(COQ8A):c.1032G>A (p.Val344=)
NM_020247.5(COQ8A):c.1048A>G (p.Lys350Glu)
NM_020247.5(COQ8A):c.1059C>T (p.Arg353=)
NM_020247.5(COQ8A):c.1068C>T (p.Ala356=)
NM_020247.5(COQ8A):c.1080+10C>T rs1236699087
NM_020247.5(COQ8A):c.1080+33T>C rs2256060
NM_020247.5(COQ8A):c.1080+5G>A
NM_020247.5(COQ8A):c.1080+6C>T
NM_020247.5(COQ8A):c.1080+7G>A rs1207810925
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1081-4dup rs754148330
NM_020247.5(COQ8A):c.1081-5C>T
NM_020247.5(COQ8A):c.1085C>T (p.Pro362Leu)
NM_020247.5(COQ8A):c.10A>G (p.Ile4Val)
NM_020247.5(COQ8A):c.1100G>C (p.Ser367Thr)
NM_020247.5(COQ8A):c.1104C>T (p.Ile368=)
NM_020247.5(COQ8A):c.1106A>G (p.Asn369Ser) rs751032737
NM_020247.5(COQ8A):c.1108A>G (p.Ser370Gly)
NM_020247.5(COQ8A):c.1117AAC[1] (p.Asn374del)
NM_020247.5(COQ8A):c.1122C>T (p.Asn374=)
NM_020247.5(COQ8A):c.1131C>T (p.Ala377=)
NM_020247.5(COQ8A):c.1150A>G (p.Met384Val) rs1572081427
NM_020247.5(COQ8A):c.1162+19G>A
NM_020247.5(COQ8A):c.1162+7G>A
NM_020247.5(COQ8A):c.1162+7G>C rs1024405380
NM_020247.5(COQ8A):c.1163-2A>G rs1572081759
NM_020247.5(COQ8A):c.1163-5C>T
NM_020247.5(COQ8A):c.1173C>T (p.Pro391=) rs541611601
NM_020247.5(COQ8A):c.1189G>T (p.Val397Leu)
NM_020247.5(COQ8A):c.1191G>A (p.Val397=) rs751845468
NM_020247.5(COQ8A):c.1199G>A (p.Arg400Gln)
NM_020247.5(COQ8A):c.1201G>C (p.Glu401Gln)
NM_020247.5(COQ8A):c.1203G>T (p.Glu401Asp)
NM_020247.5(COQ8A):c.1204C>T (p.Leu402=)
NM_020247.5(COQ8A):c.1209C>T (p.Ala403=)
NM_020247.5(COQ8A):c.1215G>C (p.Glu405Asp)
NM_020247.5(COQ8A):c.1221C>G (p.Asp407Glu) rs1254419880
NM_020247.5(COQ8A):c.1225C>T (p.Gln409Ter)
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1232_1233del (p.Glu411fs)
NM_020247.5(COQ8A):c.1247G>T (p.Arg416Leu)
NM_020247.5(COQ8A):c.1251G>A (p.Lys417=)
NM_020247.5(COQ8A):c.1252T>C (p.Phe418Leu) rs2148131420
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1256+11C>T rs564593360
NM_020247.5(COQ8A):c.1256+12G>A rs772918474
NM_020247.5(COQ8A):c.1256+12G>C rs772918474
NM_020247.5(COQ8A):c.1256+14C>T
NM_020247.5(COQ8A):c.1256+15C>T rs371169984
NM_020247.5(COQ8A):c.1256+16G>A
NM_020247.5(COQ8A):c.1256+32del rs3215919
NM_020247.5(COQ8A):c.1256+7C>T
NM_020247.5(COQ8A):c.1256+8C>T
NM_020247.5(COQ8A):c.1256+9C>T
NM_020247.5(COQ8A):c.1257-11C>T
NM_020247.5(COQ8A):c.1257-12_1257-9del
NM_020247.5(COQ8A):c.1257-14C>T
NM_020247.5(COQ8A):c.1257-56G>C rs1574185
NM_020247.5(COQ8A):c.1257-56G>T rs1574185
NM_020247.5(COQ8A):c.1257-57G>T rs377335668
NM_020247.5(COQ8A):c.1257-58G>T rs1574184
NM_020247.5(COQ8A):c.1257-59_1257-58insT rs149374145
NM_020247.5(COQ8A):c.1257-5C>T
NM_020247.5(COQ8A):c.1257-6A>C
NM_020247.5(COQ8A):c.1266_1267insT (p.Lys423Ter) rs2148132672
NM_020247.5(COQ8A):c.1274_1282del (p.His425_Phe428delinsLeu)
NM_020247.5(COQ8A):c.1276C>A (p.Pro426Thr)
NM_020247.5(COQ8A):c.1276C>G (p.Pro426Ala) rs1004253103
NM_020247.5(COQ8A):c.127_128delinsA (p.Leu43fs) rs2148051981
NM_020247.5(COQ8A):c.1284_1286del (p.Tyr429del) rs2148132740
NM_020247.5(COQ8A):c.1293T>G (p.Pro431=) rs1572083099
NM_020247.5(COQ8A):c.1315dup (p.Ser439fs)
NM_020247.5(COQ8A):c.1316G>A (p.Ser439Asn)
NM_020247.5(COQ8A):c.1323T>C (p.His441=)
NM_020247.5(COQ8A):c.1324G>A (p.Val442Met)
NM_020247.5(COQ8A):c.1335A>C (p.Thr445=)
NM_020247.5(COQ8A):c.1335A>G (p.Thr445=)
NM_020247.5(COQ8A):c.1339C>G (p.Leu447Val)
NM_020247.5(COQ8A):c.1344G>A (p.Val448=)
NM_020247.5(COQ8A):c.1351T>G (p.Phe451Val)
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_020247.5(COQ8A):c.1369G>A (p.Glu457Lys)
NM_020247.5(COQ8A):c.1390C>T (p.Arg464Trp)
NM_020247.5(COQ8A):c.1393A>C (p.Asn465His) rs863223887
NM_020247.5(COQ8A):c.1396G>A (p.Glu466Lys)
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1398+13C>T
NM_020247.5(COQ8A):c.1398+16C>G
NM_020247.5(COQ8A):c.1398+1_1398+5dup
NM_020247.5(COQ8A):c.1398+3T>C
NM_020247.5(COQ8A):c.1398+3_1398+6del rs863223886
NM_020247.5(COQ8A):c.1398+7C>T
NM_020247.5(COQ8A):c.1399-7T>C
NM_020247.5(COQ8A):c.1399-9T>C rs2148134401
NM_020247.5(COQ8A):c.1406A>C (p.Tyr469Ser)
NM_020247.5(COQ8A):c.1408A>G (p.Asn470Asp)
NM_020247.5(COQ8A):c.1410C>T (p.Asn470=) rs1659956153
NM_020247.5(COQ8A):c.1413C>T (p.Ile471=) rs754631155
NM_020247.5(COQ8A):c.1440C>G (p.Phe480Leu) rs12593
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1445T>C (p.Phe482Ser)
NM_020247.5(COQ8A):c.1445_1446delinsAT (p.Phe482Tyr)
NM_020247.5(COQ8A):c.1449C>T (p.His483=) rs1463222983
NM_020247.5(COQ8A):c.1452C>G (p.Phe484Leu)
NM_020247.5(COQ8A):c.145G>A (p.Glu49Lys)
NM_020247.5(COQ8A):c.1463A>G (p.Asp488Gly)
NM_020247.5(COQ8A):c.1464C>T (p.Asp488=)
NM_020247.5(COQ8A):c.1470C>A (p.Asn490Lys)
NM_020247.5(COQ8A):c.1478A>G (p.Asn493Ser)
NM_020247.5(COQ8A):c.148del (p.Gln50fs) rs1553276474
NM_020247.5(COQ8A):c.1505_1506+21del rs760327691
NM_020247.5(COQ8A):c.1506+13G>A rs2148134948
NM_020247.5(COQ8A):c.1506+15G>T
NM_020247.5(COQ8A):c.1506+16G>A
NM_020247.5(COQ8A):c.1506+17G>A
NM_020247.5(COQ8A):c.1506+19dup rs1659963977
NM_020247.5(COQ8A):c.1506+1G>A rs974677376
NM_020247.5(COQ8A):c.1507-16G>A
NM_020247.5(COQ8A):c.1507-17G>A
NM_020247.5(COQ8A):c.1507-19C>G rs1659980760
NM_020247.5(COQ8A):c.1507-20C>T
NM_020247.5(COQ8A):c.1507-20_1507-18del
NM_020247.5(COQ8A):c.150G>T (p.Gln50His) rs2148052080
NM_020247.5(COQ8A):c.1518G>A (p.Leu506=) rs1259658133
NM_020247.5(COQ8A):c.1521T>G (p.Asp507Glu) rs1468482530
NM_020247.5(COQ8A):c.1527G>A (p.Gly509=)
NM_020247.5(COQ8A):c.1534C>T (p.Arg512Trp)
NM_020247.5(COQ8A):c.1539A>C (p.Glu513Asp)
NM_020247.5(COQ8A):c.1557C>T (p.Thr519=)
NM_020247.5(COQ8A):c.1558G>A (p.Asp520Asn)
NM_020247.5(COQ8A):c.1560C>T (p.Asp520=)
NM_020247.5(COQ8A):c.156C>T (p.Gly52=)
NM_020247.5(COQ8A):c.1570C>G (p.Gln524Glu)
NM_020247.5(COQ8A):c.1572+16C>G rs765668839
NM_020247.5(COQ8A):c.1572+19T>A
NM_020247.5(COQ8A):c.1572+6T>A
NM_020247.5(COQ8A):c.1573-11C>T rs1660017967
NM_020247.5(COQ8A):c.1573-20_1573-19delinsGT
NM_020247.5(COQ8A):c.1573-3C>G
NM_020247.5(COQ8A):c.1590C>T (p.Ala530=)
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) rs1660021291
NM_020247.5(COQ8A):c.1596G>A (p.Arg532=)
NM_020247.5(COQ8A):c.1603G>A (p.Glu535Lys)
NM_020247.5(COQ8A):c.1610T>C (p.Val537Ala)
NM_020247.5(COQ8A):c.1610T>G (p.Val537Gly) rs199724504
NM_020247.5(COQ8A):c.1616C>T (p.Ala539Val)
NM_020247.5(COQ8A):c.1617G>A (p.Ala539=)
NM_020247.5(COQ8A):c.1620A>G (p.Lys540=)
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1629G>T (p.Glu543Asp) rs1282252939
NM_020247.5(COQ8A):c.1632dup (p.Lys545fs)
NM_020247.5(COQ8A):c.1650C>T (p.Tyr550=) rs750640337
NM_020247.5(COQ8A):c.1659+15G>A
NM_020247.5(COQ8A):c.1659+19del
NM_020247.5(COQ8A):c.1660-19C>T
NM_020247.5(COQ8A):c.1660-1G>A rs1395498196
NM_020247.5(COQ8A):c.1660-8T>C
NM_020247.5(COQ8A):c.1670A>G (p.Asp557Gly)
NM_020247.5(COQ8A):c.1671C>A (p.Asp557Glu) rs370899166
NM_020247.5(COQ8A):c.1671C>T (p.Asp557=) rs370899166
NM_020247.5(COQ8A):c.1672G>A (p.Ala558Thr)
NM_020247.5(COQ8A):c.1676A>C (p.His559Pro) rs902464326
NM_020247.5(COQ8A):c.1677C>A (p.His559Gln) rs200963031
NM_020247.5(COQ8A):c.1681G>A (p.Asp561Asn) rs2148142552
NM_020247.5(COQ8A):c.1681dup (p.Asp561fs)
NM_020247.5(COQ8A):c.1689C>A (p.Ile563=)
NM_020247.5(COQ8A):c.169A>G (p.Lys57Glu)
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1715C>T (p.Ser572Phe) rs1572089312
NM_020247.5(COQ8A):c.1721A>G (p.Glu574Gly)
NM_020247.5(COQ8A):c.1723C>G (p.Pro575Ala)
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1753G>A (p.Glu585Lys) rs758986425
NM_020247.5(COQ8A):c.1755G>A (p.Glu585=)
NM_020247.5(COQ8A):c.177+12T>C
NM_020247.5(COQ8A):c.177+6G>T
NM_020247.5(COQ8A):c.178-17G>A rs751333921
NM_020247.5(COQ8A):c.178-17G>T rs751333921
NM_020247.5(COQ8A):c.178-2A>G
NM_020247.5(COQ8A):c.1783C>G (p.Leu595Val)
NM_020247.5(COQ8A):c.1788G>A (p.Arg596=)
NM_020247.5(COQ8A):c.178G>A (p.Gly60Ser) rs369252071
NM_020247.5(COQ8A):c.1792C>T (p.Arg598Cys)
NM_020247.5(COQ8A):c.1792dup (p.Arg598fs)
NM_020247.5(COQ8A):c.1793G>A (p.Arg598His)
NM_020247.5(COQ8A):c.1798G>A (p.Val600Ile)
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1802C>T (p.Pro601Leu)
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020247.5(COQ8A):c.1813G>A (p.Glu605Lys) rs1572089727
NM_020247.5(COQ8A):c.1815_1816delinsC (p.Glu605fs) rs1085307497
NM_020247.5(COQ8A):c.1817C>A (p.Thr606Asn)
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1827G>T (p.Leu609=) rs760526121
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
NM_020247.5(COQ8A):c.1831A>G (p.Arg611Gly) rs1553281394
NM_020247.5(COQ8A):c.1842_1844del (p.Gly615del)
NM_020247.5(COQ8A):c.1843G>A (p.Gly615Ser)
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.1879T>C (p.Phe627Leu)
NM_020247.5(COQ8A):c.1884C>T (p.Pro628=)
NM_020247.5(COQ8A):c.1895T>C (p.Met632Thr)
NM_020247.5(COQ8A):c.1900G>C (p.Glu634Gln)
NM_020247.5(COQ8A):c.1911C>T (p.Tyr637=)
NM_020247.5(COQ8A):c.1916A>G (p.Asn639Ser)
NM_020247.5(COQ8A):c.192T>C (p.His64=) rs1572045723
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.1942T>C (p.Ter648Gln) rs766591347
NM_020247.5(COQ8A):c.219C>T (p.Gly73=)
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
NM_020247.5(COQ8A):c.227A>G (p.Glu76Gly)
NM_020247.5(COQ8A):c.234G>C (p.Glu78Asp)
NM_020247.5(COQ8A):c.248dup (p.His85fs) rs1658476495
NM_020247.5(COQ8A):c.250_253del (p.Pro84fs)
NM_020247.5(COQ8A):c.251C>T (p.Pro84Leu)
NM_020247.5(COQ8A):c.252G>A (p.Pro84=)
NM_020247.5(COQ8A):c.260C>T (p.Ala87Val) rs1658478354
NM_020247.5(COQ8A):c.262G>A (p.Gly88Arg)
NM_020247.5(COQ8A):c.281C>T (p.Ser94Phe)
NM_020247.5(COQ8A):c.292G>A (p.Ala98Thr)
NM_020247.5(COQ8A):c.298G>A (p.Asp100Asn)
NM_020247.5(COQ8A):c.308C>T (p.Ala103Val)
NM_020247.5(COQ8A):c.312C>A (p.Pro104=)
NM_020247.5(COQ8A):c.319C>G (p.Leu107Val)
NM_020247.5(COQ8A):c.322G>C (p.Gly108Arg)
NM_020247.5(COQ8A):c.330C>T (p.Ala110=)
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter) rs765966679
NM_020247.5(COQ8A):c.341G>A (p.Gly114Asp)
NM_020247.5(COQ8A):c.355T>C (p.Tyr119His)
NM_020247.5(COQ8A):c.387G>C (p.Gly129=)
NM_020247.5(COQ8A):c.392C>T (p.Pro131Leu) rs2148062236
NM_020247.5(COQ8A):c.393C>T (p.Pro131=)
NM_020247.5(COQ8A):c.394G>A (p.Gly132Ser)
NM_020247.5(COQ8A):c.397C>T (p.Gln133Ter) rs1553276966
NM_020247.5(COQ8A):c.401C>G (p.Ala134Gly) rs1553276975
NM_020247.5(COQ8A):c.415G>T (p.Gly139Cys)
NM_020247.5(COQ8A):c.426C>T (p.Asn142=)
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.430A>C (p.Arg144=)
NM_020247.5(COQ8A):c.435C>T (p.Leu145=)
NM_020247.5(COQ8A):c.446C>T (p.Pro149Leu)
NM_020247.5(COQ8A):c.478C>T (p.Arg160Ter) rs756589820
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs) rs606231139
NM_020247.5(COQ8A):c.515G>A (p.Gly172Asp)
NM_020247.5(COQ8A):c.519C>T (p.Leu173=)
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)
NM_020247.5(COQ8A):c.543C>A (p.Ala181=)
NM_020247.5(COQ8A):c.544C>T (p.Arg182Trp)
NM_020247.5(COQ8A):c.54G>T (p.Leu18=) rs2148051694
NM_020247.5(COQ8A):c.560G>A (p.Arg187His)
NM_020247.5(COQ8A):c.564C>G (p.Pro188=) rs140897240
NM_020247.5(COQ8A):c.56C>T (p.Thr19Ile)
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.57C>G (p.Thr19=) rs769650823
NM_020247.5(COQ8A):c.57C>T (p.Thr19=) rs769650823
NM_020247.5(COQ8A):c.588+14G>C
NM_020247.5(COQ8A):c.588+14_588+15delinsTT rs2148063237
NM_020247.5(COQ8A):c.588+19T>C rs1658505578
NM_020247.5(COQ8A):c.589-12G>A
NM_020247.5(COQ8A):c.595G>A (p.Glu199Lys)
NM_020247.5(COQ8A):c.599A>G (p.His200Arg)
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020247.5(COQ8A):c.611G>A (p.Arg204Gln)
NM_020247.5(COQ8A):c.62C>A (p.Ala21Glu)
NM_020247.5(COQ8A):c.637C>G (p.Arg213Gly) rs119468005
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020247.5(COQ8A):c.641T>G (p.Leu214Arg) rs371870568
NM_020247.5(COQ8A):c.645C>T (p.Ala215=)
NM_020247.5(COQ8A):c.650del (p.Phe217fs)
NM_020247.5(COQ8A):c.651C>T (p.Phe217=)
NM_020247.5(COQ8A):c.652G>A (p.Gly218Arg)
NM_020247.5(COQ8A):c.655+12G>T
NM_020247.5(COQ8A):c.655+17C>T
NM_020247.5(COQ8A):c.655+3A>C rs1553277145
NM_020247.5(COQ8A):c.656-1038G>A
NM_020247.5(COQ8A):c.656-10C>A
NM_020247.5(COQ8A):c.656-1169A>G
NM_020247.5(COQ8A):c.656-1256_656-1241del
NM_020247.5(COQ8A):c.656-1328T>G rs2989948
NM_020247.5(COQ8A):c.656-15C>T rs546978574
NM_020247.5(COQ8A):c.656-17C>A
NM_020247.5(COQ8A):c.656-18G>A
NM_020247.5(COQ8A):c.656-19C>T
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020247.5(COQ8A):c.656-6T>C
NM_020247.5(COQ8A):c.656-991GGGTGCG[3]
NM_020247.5(COQ8A):c.663C>T (p.Ala221=)
NM_020247.5(COQ8A):c.670C>G (p.Leu224Val)
NM_020247.5(COQ8A):c.678C>T (p.Phe226=)
NM_020247.5(COQ8A):c.679G>A (p.Gly227Arg)
NM_020247.5(COQ8A):c.68T>C (p.Val23Ala)
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.69G>A (p.Val23=)
NM_020247.5(COQ8A):c.706A>G (p.Ser236Gly)
NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)
NM_020247.5(COQ8A):c.714C>T (p.Arg238=)
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.730+7C>G rs370924314
NM_020247.5(COQ8A):c.730+8G>A rs533407862
NM_020247.5(COQ8A):c.731-15C>T
NM_020247.5(COQ8A):c.731-161T>C rs143481309
NM_020247.5(COQ8A):c.731-5C>T
NM_020247.5(COQ8A):c.734A>G (p.Lys245Arg)
NM_020247.5(COQ8A):c.747G>A (p.Leu249=)
NM_020247.5(COQ8A):c.754A>G (p.Ser252Gly) rs2148124727
NM_020247.5(COQ8A):c.758C>T (p.Pro253Leu)
NM_020247.5(COQ8A):c.768C>G (p.Ser256=)
NM_020247.5(COQ8A):c.768C>T (p.Ser256=)
NM_020247.5(COQ8A):c.777T>A (p.Asn259Lys) rs778140760
NM_020247.5(COQ8A):c.780A>G (p.Ala260=)
NM_020247.5(COQ8A):c.790G>A (p.Val264Met)
NM_020247.5(COQ8A):c.792G>A (p.Val264=)
NM_020247.5(COQ8A):c.793C>T (p.Arg265Cys)
NM_020247.5(COQ8A):c.797C>T (p.Thr266Met)
NM_020247.5(COQ8A):c.798_823dup (p.Leu275fs) rs1659733643
NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020247.5(COQ8A):c.822A>T (p.Ala274=) rs778029819
NM_020247.5(COQ8A):c.828G>A (p.Lys276=)
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro) rs781518112
NM_020247.5(COQ8A):c.832G>C (p.Gly278Arg)
NM_020247.5(COQ8A):c.853+11G>A
NM_020247.5(COQ8A):c.853+12C>T
NM_020247.5(COQ8A):c.853+156G>A rs76213739
NM_020247.5(COQ8A):c.853+15G>A
NM_020247.5(COQ8A):c.853+22_853+35dup
NM_020247.5(COQ8A):c.853+24_853+46dup
NM_020247.5(COQ8A):c.853+47G>A rs116286528
NM_020247.5(COQ8A):c.853+7G>A rs1316934190
NM_020247.5(COQ8A):c.854-12_854-10del
NM_020247.5(COQ8A):c.854-17A>G
NM_020247.5(COQ8A):c.864T>C (p.Phe288=)
NM_020247.5(COQ8A):c.871C>T (p.Pro291Ser)
NM_020247.5(COQ8A):c.872C>T (p.Pro291Leu)
NM_020247.5(COQ8A):c.876C>G (p.His292Gln)
NM_020247.5(COQ8A):c.877C>A (p.Leu293Met)
NM_020247.5(COQ8A):c.87C>G (p.His29Gln)
NM_020247.5(COQ8A):c.891C>G (p.Phe297Leu)
NM_020247.5(COQ8A):c.892G>C (p.Glu298Gln) rs756432144
NM_020247.5(COQ8A):c.898G>T (p.Val300Leu)
NM_020247.5(COQ8A):c.901C>A (p.Arg301=)
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
NM_020247.5(COQ8A):c.910G>A (p.Ala304Thr)
NM_020247.5(COQ8A):c.913G>A (p.Asp305Asn)
NM_020247.5(COQ8A):c.919A>G (p.Met307Val)
NM_020247.5(COQ8A):c.921G>A (p.Met307Ile) rs2148126881
NM_020247.5(COQ8A):c.924A>C (p.Pro308=)
NM_020247.5(COQ8A):c.925C>T (p.Leu309=)
NM_020247.5(COQ8A):c.939+16C>A
NM_020247.5(COQ8A):c.940-12C>T
NM_020247.5(COQ8A):c.940-18C>G
NM_020247.5(COQ8A):c.940-19C>T
NM_020247.5(COQ8A):c.940-3C>T
NM_020247.5(COQ8A):c.940-52C>G rs2297413
NM_020247.5(COQ8A):c.947_948del (p.Leu316fs)
NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del) rs759061098
NM_020247.5(COQ8A):c.950A>G (p.Asn317Ser) rs759826134
NM_020247.5(COQ8A):c.955G>A (p.Asp319Asn)
NM_020247.5(COQ8A):c.96C>T (p.Ile32=)
NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter) rs1350444582
NM_020247.5(COQ8A):c.976G>A (p.Asp326Asn)
NM_020247.5(COQ8A):c.97G>A (p.Gly33Arg) rs552784842
NM_020247.5(COQ8A):c.998A>G (p.Glu333Gly)
NM_020247.5(COQ8A):c.99A>C (p.Gly33=) rs2148051854
Single allele rs1553281318

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