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
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NM_020247.5(COQ8A):c.853+22_853+35dup
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NM_020247.5(COQ8A):c.853+24_853+46dup
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NM_020247.5(COQ8A):c.853+47G>A
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rs116286528
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NM_020247.5(COQ8A):c.853+7G>A
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rs1316934190
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NM_020247.5(COQ8A):c.854-12_854-10del
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NM_020247.5(COQ8A):c.854-17A>G
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NM_020247.5(COQ8A):c.864T>C (p.Phe288=)
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NM_020247.5(COQ8A):c.871C>T (p.Pro291Ser)
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NM_020247.5(COQ8A):c.872C>T (p.Pro291Leu)
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NM_020247.5(COQ8A):c.876C>G (p.His292Gln)
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NM_020247.5(COQ8A):c.877C>A (p.Leu293Met)
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NM_020247.5(COQ8A):c.87C>G (p.His29Gln)
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NM_020247.5(COQ8A):c.891C>G (p.Phe297Leu)
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NM_020247.5(COQ8A):c.892G>C (p.Glu298Gln)
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rs756432144
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NM_020247.5(COQ8A):c.898G>T (p.Val300Leu)
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NM_020247.5(COQ8A):c.901C>A (p.Arg301=)
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NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
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NM_020247.5(COQ8A):c.910G>A (p.Ala304Thr)
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NM_020247.5(COQ8A):c.913G>A (p.Asp305Asn)
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NM_020247.5(COQ8A):c.919A>G (p.Met307Val)
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NM_020247.5(COQ8A):c.921G>A (p.Met307Ile)
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rs2148126881
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NM_020247.5(COQ8A):c.924A>C (p.Pro308=)
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NM_020247.5(COQ8A):c.925C>T (p.Leu309=)
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NM_020247.5(COQ8A):c.939+16C>A
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NM_020247.5(COQ8A):c.940-12C>T
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NM_020247.5(COQ8A):c.940-18C>G
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NM_020247.5(COQ8A):c.940-19C>T
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NM_020247.5(COQ8A):c.940-3C>T
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NM_020247.5(COQ8A):c.940-52C>G
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rs2297413
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NM_020247.5(COQ8A):c.947_948del (p.Leu316fs)
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NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del)
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rs759061098
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NM_020247.5(COQ8A):c.950A>G (p.Asn317Ser)
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rs759826134
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NM_020247.5(COQ8A):c.955G>A (p.Asp319Asn)
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NM_020247.5(COQ8A):c.96C>T (p.Ile32=)
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NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter)
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rs1350444582
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NM_020247.5(COQ8A):c.976G>A (p.Asp326Asn)
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NM_020247.5(COQ8A):c.97G>A (p.Gly33Arg)
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rs552784842
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NM_020247.5(COQ8A):c.998A>G (p.Glu333Gly)
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NM_020247.5(COQ8A):c.99A>C (p.Gly33=)
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rs2148051854
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Single allele
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rs1553281318
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