NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000018.4(ACADVL):c.-36A>G
|
rs372592554
|
0.00243
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)
|
rs146356199
|
0.00141
|
NM_000018.4(ACADVL):c.1606-22C>T
|
rs370303265
|
0.00139
|
NM_000018.4(ACADVL):c.878+33T>G
|
rs145589195
|
0.00139
|
NM_001278716.2(FBXL4):c.*9A>G
|
rs185850413
|
0.00127
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
NM_001278716.2(FBXL4):c.1317+14A>G
|
rs182139048
|
0.00082
|
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)
|
rs143154211
|
0.00076
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln)
|
rs147696366
|
0.00057
|
NM_000018.4(ACADVL):c.63-35G>A
|
rs774905326
|
0.00053
|
NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr)
|
rs146638016
|
0.00047
|
NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=)
|
rs151258576
|
0.00043
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)
|
rs139427392
|
0.00035
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=)
|
rs368029297
|
0.00027
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)
|
rs142853738
|
0.00024
|
NM_001278716.2(FBXL4):c.131C>A (p.Thr44Asn)
|
rs199983343
|
0.00022
|
NM_006567.5(FARS2):c.407C>A (p.Pro136His)
|
rs199863563
|
0.00022
|
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)
|
rs367705640
|
0.00021
|
NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys)
|
rs372544390
|
0.00021
|
NM_001278716.2(FBXL4):c.1317+19T>G
|
rs201615847
|
0.00021
|
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)
|
rs150748757
|
0.00021
|
NM_002693.3(POLG):c.2369G>A (p.Arg790His)
|
rs191490663
|
0.00021
|
NM_001278716.2(FBXL4):c.1594C>G (p.Leu532Val)
|
rs150523994
|
0.00019
|
NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser)
|
rs200435702
|
0.00019
|
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn)
|
rs554931092
|
0.00019
|
NM_001278716.2(FBXL4):c.351G>A (p.Thr117=)
|
rs375173811
|
0.00018
|
NM_001278716.2(FBXL4):c.1103+13C>T
|
rs182076681
|
0.00016
|
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser)
|
rs201858974
|
0.00016
|
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln)
|
rs148921184
|
0.00016
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_001278716.2(FBXL4):c.91A>G (p.Met31Val)
|
rs148934429
|
0.00013
|
NM_001278716.2(FBXL4):c.1209A>G (p.Leu403=)
|
rs764546116
|
0.00012
|
NM_001278716.2(FBXL4):c.735T>C (p.Asp245=)
|
rs369242693
|
0.00012
|
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)
|
rs368614463
|
0.00012
|
NM_000018.4(ACADVL):c.*8C>T
|
rs370513576
|
0.00011
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln)
|
rs200372976
|
0.00011
|
NM_000018.4(ACADVL):c.1269+25G>A
|
rs373157378
|
0.00010
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys)
|
rs745512025
|
0.00010
|
NM_001278716.2(FBXL4):c.936G>A (p.Gln312=)
|
rs142814111
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile)
|
rs201462718
|
0.00009
|
NM_001278716.2(FBXL4):c.1546C>T (p.Pro516Ser)
|
rs145806027
|
0.00009
|
NM_001278716.2(FBXL4):c.300T>C (p.Tyr100=)
|
rs573472397
|
0.00009
|
NM_001278716.2(FBXL4):c.724G>A (p.Asp242Asn)
|
rs760356648
|
0.00009
|
NM_002693.3(POLG):c.1001G>A (p.Arg334Lys)
|
rs776437525
|
0.00009
|
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)
|
rs753858440
|
0.00009
|
NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=)
|
rs377550308
|
0.00008
|
NM_001278716.2(FBXL4):c.125G>A (p.Ser42Asn)
|
rs750080180
|
0.00008
|
NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=)
|
rs149704398
|
0.00008
|
NM_001278716.2(FBXL4):c.672G>A (p.Val224=)
|
rs545027066
|
0.00008
|
NM_001278716.2(FBXL4):c.813C>T (p.Leu271=)
|
rs146999462
|
0.00008
|
NM_001278716.2(FBXL4):c.542C>T (p.Thr181Met)
|
rs767879225
|
0.00007
|
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu)
|
rs773994204
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln)
|
rs777955007
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_001278716.2(FBXL4):c.104A>G (p.His35Arg)
|
rs201901274
|
0.00006
|
NM_001278716.2(FBXL4):c.1103G>A (p.Arg368Lys)
|
rs774697942
|
0.00006
|
NM_001278716.2(FBXL4):c.137C>G (p.Pro46Arg)
|
rs371782465
|
0.00006
|
NM_001278716.2(FBXL4):c.1400A>G (p.Tyr467Cys)
|
rs761551398
|
0.00006
|
NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=)
|
rs144468932
|
0.00006
|
NM_001278716.2(FBXL4):c.418G>A (p.Val140Ile)
|
rs748902586
|
0.00006
|
NM_001278716.2(FBXL4):c.61C>T (p.Arg21Cys)
|
rs369518305
|
0.00006
|
NM_001278716.2(FBXL4):c.682G>A (p.Val228Met)
|
rs202033721
|
0.00006
|
NM_001278716.2(FBXL4):c.752A>G (p.Tyr251Cys)
|
rs758776562
|
0.00006
|
NM_001278716.2(FBXL4):c.78T>C (p.Ala26=)
|
rs774610091
|
0.00006
|
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)
|
rs376683989
|
0.00006
|
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)
|
rs199751339
|
0.00006
|
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys)
|
rs982485775
|
0.00006
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)
|
rs374729641
|
0.00005
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_001278716.2(FBXL4):c.1104-13G>T
|
rs118092784
|
0.00005
|
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)
|
rs778692687
|
0.00005
|
NM_001278716.2(FBXL4):c.1681T>A (p.Leu561Ile)
|
rs143428179
|
0.00005
|
NM_001278716.2(FBXL4):c.48T>C (p.Tyr16=)
|
rs748705687
|
0.00005
|
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp)
|
rs756952607
|
0.00005
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser)
|
rs752227163
|
0.00004
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)
|
rs778514103
|
0.00004
|
NM_001278716.2(FBXL4):c.1103+12G>A
|
rs374114762
|
0.00004
|
NM_001278716.2(FBXL4):c.1214C>A (p.Ala405Asp)
|
rs140490040
|
0.00004
|
NM_001278716.2(FBXL4):c.1318-16T>C
|
rs768679543
|
0.00004
|
NM_001278716.2(FBXL4):c.1751G>T (p.Cys584Phe)
|
rs115816653
|
0.00004
|
NM_001278716.2(FBXL4):c.1826G>A (p.Ser609Asn)
|
rs371875653
|
0.00004
|
NM_001278716.2(FBXL4):c.526T>C (p.Trp176Arg)
|
rs201149065
|
0.00004
|
NM_001278716.2(FBXL4):c.565C>T (p.Arg189Cys)
|
rs373308410
|
0.00004
|
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=)
|
rs773041308
|
0.00004
|
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)
|
rs776848222
|
0.00004
|
NM_006567.5(FARS2):c.1094A>G (p.Asn365Ser)
|
rs373811519
|
0.00004
|
NM_006567.5(FARS2):c.676C>T (p.His226Tyr)
|
rs201991648
|
0.00004
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1605+7G>A
|
rs572010910
|
0.00003
|
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)
|
rs398123085
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr)
|
rs965557488
|
0.00003
|
NM_000018.4(ACADVL):c.277+6G>T
|
rs776422793
|
0.00003
|
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu)
|
rs750675692
|
0.00003
|
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln)
|
rs370146676
|
0.00003
|
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser)
|
rs139973845
|
0.00003
|
NM_001278716.2(FBXL4):c.*11G>A
|
rs773599829
|
0.00003
|
NM_001278716.2(FBXL4):c.1011G>T (p.Leu337=)
|
rs770241351
|
0.00003
|
NM_001278716.2(FBXL4):c.1027C>T (p.Arg343Cys)
|
rs754570800
|
0.00003
|
NM_001278716.2(FBXL4):c.109G>A (p.Ala37Thr)
|
rs779572354
|
0.00003
|
NM_001278716.2(FBXL4):c.1104-19T>C
|
rs765527736
|
0.00003
|
NM_001278716.2(FBXL4):c.1156C>T (p.His386Tyr)
|
rs751643380
|
0.00003
|
NM_001278716.2(FBXL4):c.1172C>G (p.Thr391Ser)
|
rs750610341
|
0.00003
|
NM_001278716.2(FBXL4):c.1289G>A (p.Arg430Gln)
|
rs377537581
|
0.00003
|
NM_001278716.2(FBXL4):c.1318-15G>C
|
rs373175308
|
0.00003
|
NM_001278716.2(FBXL4):c.1567G>A (p.Gly523Arg)
|
rs759480340
|
0.00003
|
NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=)
|
rs767302112
|
0.00003
|
NM_001278716.2(FBXL4):c.1713G>A (p.Met571Ile)
|
rs767419935
|
0.00003
|
NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=)
|
rs373647205
|
0.00003
|
NM_001278716.2(FBXL4):c.1739T>G (p.Leu580Arg)
|
rs757154231
|
0.00003
|
NM_001278716.2(FBXL4):c.221C>G (p.Thr74Ser)
|
rs779472232
|
0.00003
|
NM_001278716.2(FBXL4):c.249T>G (p.Asn83Lys)
|
rs372346466
|
0.00003
|
NM_001278716.2(FBXL4):c.353C>T (p.Pro118Leu)
|
rs765468582
|
0.00003
|
NM_001278716.2(FBXL4):c.434C>G (p.Thr145Ser)
|
rs755971635
|
0.00003
|
NM_001278716.2(FBXL4):c.540T>G (p.Pro180=)
|
rs760238524
|
0.00003
|
NM_001278716.2(FBXL4):c.58C>T (p.Arg20Trp)
|
rs758088733
|
0.00003
|
NM_001278716.2(FBXL4):c.714T>G (p.Thr238=)
|
rs776419278
|
0.00003
|
NM_001278716.2(FBXL4):c.731A>G (p.Asn244Ser)
|
rs141193306
|
0.00003
|
NM_001278716.2(FBXL4):c.8C>T (p.Pro3Leu)
|
rs561491659
|
0.00003
|
NM_002693.3(POLG):c.1493A>C (p.Lys498Thr)
|
rs769637557
|
0.00003
|
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr)
|
rs745506700
|
0.00003
|
NM_002693.3(POLG):c.1648C>G (p.Gln550Glu)
|
rs1227630175
|
0.00003
|
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr)
|
rs1049107490
|
0.00003
|
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys)
|
rs768653086
|
0.00003
|
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)
|
rs770236576
|
0.00003
|
NM_006567.5(FARS2):c.*4C>T
|
rs200232967
|
0.00003
|
NM_006567.5(FARS2):c.332C>T (p.Ser111Leu)
|
rs369145259
|
0.00003
|
NM_006567.5(FARS2):c.706G>A (p.Val236Met)
|
rs369015058
|
0.00003
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
0.00002
|
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)
|
rs772014118
|
0.00002
|
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His)
|
rs745355288
|
0.00002
|
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)
|
rs794727111
|
0.00002
|
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)
|
rs779901247
|
0.00002
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
NM_000018.4(ACADVL):c.478-44C>T
|
rs754668930
|
0.00002
|
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)
|
rs754756970
|
0.00002
|
NM_000018.4(ACADVL):c.499G>A (p.Val167Met)
|
rs199991742
|
0.00002
|
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg)
|
rs775669454
|
0.00002
|
NM_001278716.2(FBXL4):c.-16C>T
|
rs752104950
|
0.00002
|
NM_001278716.2(FBXL4):c.1056A>G (p.Leu352=)
|
rs779748858
|
0.00002
|
NM_001278716.2(FBXL4):c.1069A>G (p.Asn357Asp)
|
rs199540184
|
0.00002
|
NM_001278716.2(FBXL4):c.1190C>A (p.Ser397Tyr)
|
rs560726469
|
0.00002
|
NM_001278716.2(FBXL4):c.1244C>T (p.Pro415Leu)
|
rs770653005
|
0.00002
|
NM_001278716.2(FBXL4):c.1260C>T (p.Asn420=)
|
rs371347504
|
0.00002
|
NM_001278716.2(FBXL4):c.1285A>G (p.Lys429Glu)
|
rs1554218803
|
0.00002
|
NM_001278716.2(FBXL4):c.1428C>A (p.Ala476=)
|
rs763943212
|
0.00002
|
NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=)
|
rs748404878
|
0.00002
|
NM_001278716.2(FBXL4):c.1483A>C (p.Asn495His)
|
rs568736395
|
0.00002
|
NM_001278716.2(FBXL4):c.1580G>T (p.Arg527Ile)
|
rs748236641
|
0.00002
|
NM_001278716.2(FBXL4):c.15T>A (p.Phe5Leu)
|
rs765129401
|
0.00002
|
NM_001278716.2(FBXL4):c.1796A>G (p.Asp599Gly)
|
rs757279926
|
0.00002
|
NM_001278716.2(FBXL4):c.219T>C (p.Tyr73=)
|
rs747536886
|
0.00002
|
NM_001278716.2(FBXL4):c.529T>A (p.Ser177Thr)
|
rs753998502
|
0.00002
|
NM_001278716.2(FBXL4):c.70A>G (p.Arg24Gly)
|
rs759636678
|
0.00002
|
NM_001278716.2(FBXL4):c.730A>G (p.Asn244Asp)
|
rs771854304
|
0.00002
|
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)
|
rs765912815
|
0.00002
|
NM_001278716.2(FBXL4):c.891A>G (p.Leu297=)
|
rs776516268
|
0.00002
|
NM_001278716.2(FBXL4):c.988G>A (p.Ala330Thr)
|
rs759851318
|
0.00002
|
NM_001278716.2(FBXL4):c.991A>G (p.Lys331Glu)
|
rs749668327
|
0.00002
|
NM_002693.3(POLG):c.1713-4G>A
|
rs201857960
|
0.00002
|
NM_002693.3(POLG):c.17G>C (p.Trp6Ser)
|
rs1057524249
|
0.00002
|
NM_002693.3(POLG):c.1849C>T (p.Arg617Cys)
|
rs144374017
|
0.00002
|
NM_002693.3(POLG):c.2020G>A (p.Gly674Ser)
|
rs538978071
|
0.00002
|
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln)
|
rs1015705626
|
0.00002
|
NM_002693.3(POLG):c.2446C>G (p.Leu816Val)
|
rs748262645
|
0.00002
|
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys)
|
rs1412887168
|
0.00002
|
NM_002693.3(POLG):c.3077G>A (p.Arg1026His)
|
rs777038915
|
0.00002
|
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg)
|
rs369716454
|
0.00002
|
NM_002693.3(POLG):c.3273+8G>A
|
rs776468044
|
0.00002
|
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr)
|
rs779072487
|
0.00002
|
NM_000018.4(ACADVL):c.1040C>T (p.Ala347Val)
|
rs2071295317
|
0.00001
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn)
|
rs796051911
|
0.00001
|
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val)
|
rs2071297089
|
0.00001
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)
|
rs573810960
|
0.00001
|
NM_000018.4(ACADVL):c.1333-13G>A
|
rs774376862
|
0.00001
|
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)
|
rs398123081
|
0.00001
|
NM_000018.4(ACADVL):c.1605+3A>G
|
rs759274087
|
0.00001
|
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp)
|
rs192904909
|
0.00001
|
NM_000018.4(ACADVL):c.1678+4A>T
|
rs1057518417
|
0.00001
|
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg)
|
rs1405660468
|
0.00001
|
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)
|
rs200117742
|
0.00001
|
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)
|
rs398123086
|
0.00001
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val)
|
rs1179668719
|
0.00001
|
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr)
|
rs377659973
|
0.00001
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys)
|
rs751423064
|
0.00001
|
NM_000018.4(ACADVL):c.505A>G (p.Met169Val)
|
rs2071227343
|
0.00001
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)
|
rs775400380
|
0.00001
|
NM_000018.4(ACADVL):c.728T>A (p.Leu243His)
|
rs772999007
|
0.00001
|
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)
|
rs756069599
|
0.00001
|
NM_000018.4(ACADVL):c.878+29G>C
|
rs201502622
|
0.00001
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)
|
rs142765230
|
0.00001
|
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)
|
rs754806489
|
0.00001
|
NM_000018.4(ACADVL):c.964G>A (p.Val322Met)
|
rs1257648581
|
0.00001
|
NM_001278716.2(FBXL4):c.*18A>G
|
rs9388792
|
0.00001
|
NM_001278716.2(FBXL4):c.*4A>G
|
rs751716397
|
0.00001
|
NM_001278716.2(FBXL4):c.1009C>T (p.Leu337=)
|
rs778318524
|
0.00001
|
NM_001278716.2(FBXL4):c.1020A>G (p.Leu340=)
|
rs747657121
|
0.00001
|
NM_001278716.2(FBXL4):c.1025C>G (p.Ser342Cys)
|
rs780707718
|
0.00001
|
NM_001278716.2(FBXL4):c.1087G>T (p.Val363Phe)
|
rs759753713
|
0.00001
|
NM_001278716.2(FBXL4):c.1103+7A>G
|
rs771325864
|
0.00001
|
NM_001278716.2(FBXL4):c.1113G>C (p.Lys371Asn)
|
rs746492456
|
0.00001
|
NM_001278716.2(FBXL4):c.112A>G (p.Ile38Val)
|
rs757997109
|
0.00001
|
NM_001278716.2(FBXL4):c.1136G>A (p.Arg379His)
|
rs756984960
|
0.00001
|
NM_001278716.2(FBXL4):c.1149T>C (p.Ser383=)
|
rs777819311
|
0.00001
|
NM_001278716.2(FBXL4):c.1153A>G (p.Ser385Gly)
|
rs756148359
|
0.00001
|
NM_001278716.2(FBXL4):c.1194G>A (p.Glu398=)
|
rs762144154
|
0.00001
|
NM_001278716.2(FBXL4):c.1195A>T (p.Met399Leu)
|
rs777022919
|
0.00001
|
NM_001278716.2(FBXL4):c.1213G>A (p.Ala405Thr)
|
rs761182973
|
0.00001
|
NM_001278716.2(FBXL4):c.1252G>A (p.Ala418Thr)
|
rs542852839
|
0.00001
|
NM_001278716.2(FBXL4):c.1254T>A (p.Ala418=)
|
rs374215533
|
0.00001
|
NM_001278716.2(FBXL4):c.1294G>A (p.Val432Ile)
|
rs760332582
|
0.00001
|
NM_001278716.2(FBXL4):c.129G>C (p.Gln43His)
|
rs778495863
|
0.00001
|
NM_001278716.2(FBXL4):c.130A>T (p.Thr44Ser)
|
rs757059942
|
0.00001
|
NM_001278716.2(FBXL4):c.1311A>G (p.Lys437=)
|
rs764445798
|
0.00001
|
NM_001278716.2(FBXL4):c.1317+13C>T
|
rs761093364
|
0.00001
|
NM_001278716.2(FBXL4):c.1317+17A>G
|
rs768115130
|
0.00001
|
NM_001278716.2(FBXL4):c.1318C>G (p.Gln440Glu)
|
rs757401765
|
0.00001
|
NM_001278716.2(FBXL4):c.1336A>G (p.Ile446Val)
|
rs754053250
|
0.00001
|
NM_001278716.2(FBXL4):c.1344C>T (p.Asn448=)
|
rs756448097
|
0.00001
|
NM_001278716.2(FBXL4):c.135C>T (p.Ser45=)
|
rs764057679
|
0.00001
|
NM_001278716.2(FBXL4):c.1379G>A (p.Ser460Asn)
|
rs762621252
|
0.00001
|
NM_001278716.2(FBXL4):c.1389+13G>C
|
rs768430744
|
0.00001
|
NM_001278716.2(FBXL4):c.1390A>G (p.Ile464Val)
|
rs116538686
|
0.00001
|
NM_001278716.2(FBXL4):c.1422A>G (p.Ile474Met)
|
rs776233574
|
0.00001
|
NM_001278716.2(FBXL4):c.1508G>T (p.Gly503Val)
|
rs747431408
|
0.00001
|
NM_001278716.2(FBXL4):c.1564A>G (p.Thr522Ala)
|
rs775291550
|
0.00001
|
NM_001278716.2(FBXL4):c.1592A>G (p.Gln531Arg)
|
rs776893791
|
0.00001
|
NM_001278716.2(FBXL4):c.1626T>G (p.Ala542=)
|
rs780589605
|
0.00001
|
NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=)
|
rs779344587
|
0.00001
|
NM_001278716.2(FBXL4):c.1670A>G (p.Asn557Ser)
|
rs753327689
|
0.00001
|
NM_001278716.2(FBXL4):c.1672T>G (p.Cys558Gly)
|
rs777442455
|
0.00001
|
NM_001278716.2(FBXL4):c.1685A>G (p.Gln562Arg)
|
rs752427360
|
0.00001
|
NM_001278716.2(FBXL4):c.16_18del (p.Pro6del)
|
rs755307129
|
0.00001
|
NM_001278716.2(FBXL4):c.1703-14T>C
|
rs773834428
|
0.00001
|
NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=)
|
rs756228059
|
0.00001
|
NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=)
|
rs770326964
|
0.00001
|
NM_001278716.2(FBXL4):c.176T>G (p.Val59Gly)
|
rs559380606
|
0.00001
|
NM_001278716.2(FBXL4):c.1773T>C (p.Asp591=)
|
rs776141903
|
0.00001
|
NM_001278716.2(FBXL4):c.1778C>G (p.Ser593Cys)
|
rs768243264
|
0.00001
|
NM_001278716.2(FBXL4):c.1787C>T (p.Ser596Leu)
|
rs542778224
|
0.00001
|
NM_001278716.2(FBXL4):c.1859C>G (p.Thr620Ser)
|
rs767709670
|
0.00001
|
NM_001278716.2(FBXL4):c.18C>T (p.Pro6=)
|
rs775374425
|
0.00001
|
NM_001278716.2(FBXL4):c.194A>G (p.Tyr65Cys)
|
rs769971096
|
0.00001
|
NM_001278716.2(FBXL4):c.201T>G (p.Ser67Arg)
|
rs762217448
|
0.00001
|
NM_001278716.2(FBXL4):c.209G>A (p.Ser70Asn)
|
rs776901062
|
0.00001
|
NM_001278716.2(FBXL4):c.20T>C (p.Met7Thr)
|
rs772196265
|
0.00001
|
NM_001278716.2(FBXL4):c.293G>A (p.Arg98Gln)
|
rs149860873
|
0.00001
|
NM_001278716.2(FBXL4):c.332C>T (p.Ser111Phe)
|
rs368243492
|
0.00001
|
NM_001278716.2(FBXL4):c.335T>G (p.Leu112Trp)
|
rs189230796
|
0.00001
|
NM_001278716.2(FBXL4):c.350C>T (p.Thr117Met)
|
rs763115531
|
0.00001
|
NM_001278716.2(FBXL4):c.371A>G (p.Gln124Arg)
|
rs370408625
|
0.00001
|
NM_001278716.2(FBXL4):c.381G>A (p.Val127=)
|
rs769022403
|
0.00001
|
NM_001278716.2(FBXL4):c.394G>A (p.Glu132Lys)
|
rs140176220
|
0.00001
|
NM_001278716.2(FBXL4):c.402G>T (p.Gln134His)
|
rs745348926
|
0.00001
|
NM_001278716.2(FBXL4):c.405G>C (p.Val135=)
|
rs778315780
|
0.00001
|
NM_001278716.2(FBXL4):c.440A>G (p.His147Arg)
|
rs748016378
|
0.00001
|
NM_001278716.2(FBXL4):c.442C>T (p.Pro148Ser)
|
rs781254899
|
0.00001
|
NM_001278716.2(FBXL4):c.45T>C (p.Tyr15=)
|
rs372735676
|
0.00001
|
NM_001278716.2(FBXL4):c.491C>T (p.Pro164Leu)
|
rs764357914
|
0.00001
|
NM_001278716.2(FBXL4):c.493A>C (p.Asn165His)
|
rs761003289
|
0.00001
|
NM_001278716.2(FBXL4):c.513-16T>C
|
rs781164933
|
0.00001
|
NM_001278716.2(FBXL4):c.532G>A (p.Glu178Lys)
|
rs199923936
|
0.00001
|
NM_001278716.2(FBXL4):c.558C>G (p.Ser186=)
|
rs766972168
|
0.00001
|
NM_001278716.2(FBXL4):c.566G>T (p.Arg189Leu)
|
rs769532824
|
0.00001
|
NM_001278716.2(FBXL4):c.567C>A (p.Arg189=)
|
rs761581391
|
0.00001
|
NM_001278716.2(FBXL4):c.590A>C (p.Gln197Pro)
|
rs768342478
|
0.00001
|
NM_001278716.2(FBXL4):c.607A>G (p.Asn203Asp)
|
rs779833991
|
0.00001
|
NM_001278716.2(FBXL4):c.62G>A (p.Arg21His)
|
rs765093806
|
0.00001
|
NM_001278716.2(FBXL4):c.676C>T (p.His226Tyr)
|
rs763549609
|
0.00001
|
NM_001278716.2(FBXL4):c.6A>G (p.Ser2=)
|
rs751232704
|
0.00001
|
NM_001278716.2(FBXL4):c.722T>C (p.Ile241Thr)
|
rs768403473
|
0.00001
|
NM_001278716.2(FBXL4):c.736A>G (p.Ile246Val)
|
rs148621221
|
0.00001
|
NM_001278716.2(FBXL4):c.744T>C (p.Asp248=)
|
rs149549442
|
0.00001
|
NM_001278716.2(FBXL4):c.755C>T (p.Ala252Val)
|
rs750971078
|
0.00001
|
NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr)
|
rs376909719
|
0.00001
|
NM_001278716.2(FBXL4):c.782G>A (p.Ser261Asn)
|
rs763612215
|
0.00001
|
NM_001278716.2(FBXL4):c.814G>A (p.Gly272Arg)
|
rs767346377
|
0.00001
|
NM_001278716.2(FBXL4):c.834G>A (p.Gly278=)
|
rs770907606
|
0.00001
|
NM_001278716.2(FBXL4):c.859-6A>G
|
rs767129948
|
0.00001
|
NM_001278716.2(FBXL4):c.871A>G (p.Ile291Val)
|
rs539260316
|
0.00001
|
NM_001278716.2(FBXL4):c.874C>G (p.Leu292Val)
|
rs766267288
|
0.00001
|
NM_001278716.2(FBXL4):c.901T>C (p.Cys301Arg)
|
rs747126681
|
0.00001
|
NM_001278716.2(FBXL4):c.904A>G (p.Arg302Gly)
|
rs772461568
|
0.00001
|
NM_001278716.2(FBXL4):c.906A>G (p.Arg302=)
|
rs746193063
|
0.00001
|
NM_001278716.2(FBXL4):c.923A>G (p.Lys308Arg)
|
rs115004708
|
0.00001
|
NM_001278716.2(FBXL4):c.937C>T (p.His313Tyr)
|
rs372150490
|
0.00001
|
NM_001278716.2(FBXL4):c.953T>G (p.Leu318Arg)
|
rs766177758
|
0.00001
|
NM_001278716.2(FBXL4):c.971A>G (p.Asn324Ser)
|
rs115763595
|
0.00001
|
NM_002693.3(POLG):c.*30G>A
|
rs3087376
|
0.00001
|
NM_002693.3(POLG):c.1084C>G (p.Leu362Val)
|
rs763248358
|
0.00001
|
NM_002693.3(POLG):c.1327C>T (p.Arg443Cys)
|
rs747485523
|
0.00001
|
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp)
|
rs766242100
|
0.00001
|
NM_002693.3(POLG):c.1370G>A (p.Arg457Gln)
|
rs372911506
|
0.00001
|
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln)
|
rs746406535
|
0.00001
|
NM_002693.3(POLG):c.1894G>A (p.Ala632Thr)
|
rs908875872
|
0.00001
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
NM_002693.3(POLG):c.191C>G (p.Ser64Trp)
|
rs1397887879
|
0.00001
|
NM_002693.3(POLG):c.2045C>G (p.Thr682Ser)
|
rs1328436909
|
0.00001
|
NM_002693.3(POLG):c.2177A>G (p.Lys726Arg)
|
rs774599342
|
0.00001
|
NM_002693.3(POLG):c.2224G>A (p.Val742Met)
|
rs147827654
|
0.00001
|
NM_002693.3(POLG):c.2483A>G (p.His828Arg)
|
rs533807211
|
0.00001
|
NM_002693.3(POLG):c.2984A>G (p.Tyr995Cys)
|
rs749458217
|
0.00001
|
NM_002693.3(POLG):c.3040A>G (p.Arg1014Gly)
|
rs764195223
|
0.00001
|
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys)
|
rs763290547
|
0.00001
|
NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys)
|
rs201014720
|
0.00001
|
NM_002693.3(POLG):c.3170T>C (p.Met1057Thr)
|
rs966144250
|
0.00001
|
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)
|
rs1057523186
|
0.00001
|
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)
|
rs149921636
|
0.00001
|
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)
|
rs775517153
|
0.00001
|
NM_002693.3(POLG):c.431A>G (p.Gln144Arg)
|
rs1056580076
|
0.00001
|
NM_002693.3(POLG):c.635C>T (p.Ala212Val)
|
rs751130039
|
0.00001
|
NM_002693.3(POLG):c.855G>C (p.Gln285His)
|
rs141367015
|
0.00001
|
NM_006567.5(FARS2):c.1054G>T (p.Val352Leu)
|
rs1360751755
|
0.00001
|
NM_006567.5(FARS2):c.585G>A (p.Glu195=)
|
rs764461862
|
0.00001
|
NM_006567.5(FARS2):c.638A>G (p.Glu213Gly)
|
rs1044543244
|
0.00001
|
NC_012920.1(MT-ATP6):m.8576T>C
|
rs1603221596
|
|
NC_012920.1(MT-ATP6):m.8591T>C
|
rs1603221609
|
|
NC_012920.1(MT-ATP6):m.8593A>G
|
rs1603221612
|
|
NC_012920.1(MT-ATP6):m.8599C>A
|
rs1603221623
|
|
NC_012920.1(MT-ATP6):m.8605C>T
|
rs1603221630
|
|
NC_012920.1(MT-ATP6):m.8609C>T
|
rs1603221634
|
|
NC_012920.1(MT-ATP6):m.8612T>C
|
rs1603221635
|
|
NC_012920.1(MT-ATP6):m.8615T>C
|
rs1603221637
|
|
NC_012920.1(MT-ATP6):m.8623A>C
|
rs1603221645
|
|
NC_012920.1(MT-ATP6):m.8623A>T
|
rs1603221645
|
|
NC_012920.1(MT-ATP6):m.8641A>G
|
rs1603221662
|
|
NC_012920.1(MT-ATP6):m.8642A>C
|
rs1603221663
|
|
NC_012920.1(MT-ATP6):m.8697G>T
|
rs879233543
|
|
NC_012920.1(MT-ATP6):m.8699T>C
|
rs1603221710
|
|
NC_012920.1(MT-ATP6):m.8700A>T
|
rs1603221711
|
|
NC_012920.1(MT-ATP6):m.8714C>T
|
rs1603221724
|
|
NC_012920.1(MT-ATP6):m.8720G>A
|
rs1603221728
|
|
NC_012920.1(MT-ATP6):m.8720G>C
|
rs1603221728
|
|
NC_012920.1(MT-ATP6):m.8722C>T
|
rs1603221733
|
|
NC_012920.1(MT-ATP6):m.8728T>C
|
rs1603221742
|
|
NC_012920.1(MT-ATP6):m.8731T>A
|
rs1603221746
|
|
NC_012920.1(MT-ATP6):m.8735T>C
|
rs1603221752
|
|
NC_012920.1(MT-ATP6):m.8737A>G
|
rs1603221754
|
|
NC_012920.1(MT-ATP6):m.8744T>C
|
rs1603221756
|
|
NC_012920.1(MT-ATP6):m.8746T>C
|
rs1603221761
|
|
NC_012920.1(MT-ATP6):m.8761A>C
|
rs1603221776
|
|
NC_012920.1(MT-ATP6):m.8782G>A
|
rs1603221801
|
|
NC_012920.1(MT-ATP6):m.8785C>G
|
rs1603221807
|
|
NC_012920.1(MT-ATP6):m.8785C>T
|
rs1603221807
|
|
NC_012920.1(MT-ATP6):m.8789T>C
|
rs1603221811
|
|
NC_012920.1(MT-ATP6):m.8800T>G
|
rs1569484239
|
|
NC_012920.1(MT-ATP6):m.8812A>T
|
rs1556423543
|
|
NC_012920.1(MT-ATP6):m.8821T>C
|
rs1603221825
|
|
NC_012920.1(MT-ATP6):m.8824A>G
|
rs1603221827
|
|
NC_012920.1(MT-ATP6):m.8825T>C
|
rs1603221830
|
|
NC_012920.1(MT-ATP6):m.8840C>T
|
rs1603221837
|
|
NC_012920.1(MT-ATP6):m.8844C>A
|
rs1603221840
|
|
NC_012920.1(MT-ATP6):m.8863G>A
|
rs1603221852
|
|
NC_012920.1(MT-ATP6):m.8868T>A
|
rs1556423556
|
|
NC_012920.1(MT-ATP6):m.8873G>C
|
rs1603221864
|
|
NC_012920.1(MT-ATP6):m.8879G>A
|
rs1603221870
|
|
NC_012920.1(MT-ATP6):m.8906A>C
|
rs1603221897
|
|
NC_012920.1(MT-ATP6):m.8920G>A
|
rs28406348
|
|
NC_012920.1(MT-ATP6):m.8921G>A
|
rs2298008
|
|
NC_012920.1(MT-ATP6):m.8933C>T
|
rs1603221918
|
|
NC_012920.1(MT-ATP6):m.8935C>T
|
rs28377547
|
|
NC_012920.1(MT-ATP6):m.8936T>C
|
rs1603221920
|
|
NC_012920.1(MT-ATP6):m.8941C>T
|
rs1603221928
|
|
NC_012920.1(MT-ATP6):m.8951T>C
|
rs1603221934
|
|
NC_012920.1(MT-ATP6):m.8953A>G
|
rs1603221936
|
|
NC_012920.1(MT-ATP6):m.8954T>C
|
rs1556423576
|
|
NC_012920.1(MT-ATP6):m.8959G>A
|
rs1603221944
|
|
NC_012920.1(MT-ATP6):m.8972T>C
|
rs1603221948
|
|
NC_012920.1(MT-ATP6):m.9005T>C
|
rs1603221971
|
|
NC_012920.1(MT-ATP6):m.9014A>G
|
rs1603221980
|
|
NC_012920.1(MT-ATP6):m.9019A>G
|
rs1603221982
|
|
NC_012920.1(MT-ATP6):m.9026G>A
|
rs1603221987
|
|
NC_012920.1(MT-ATP6):m.9028C>T
|
rs1603221990
|
|
NC_012920.1(MT-ATP6):m.9029A>G
|
rs1603221991
|
|
NC_012920.1(MT-ATP6):m.9047T>C
|
rs1603222008
|
|
NC_012920.1(MT-ATP6):m.9058A>C
|
rs1556423599
|
|
NC_012920.1(MT-ATP6):m.9070T>C
|
rs879190502
|
|
NC_012920.1(MT-ATP6):m.9073A>C
|
rs1556423603
|
|
NC_012920.1(MT-ATP6):m.9082C>T
|
rs1603222043
|
|
NC_012920.1(MT-ATP6):m.9085C>A
|
rs1603222048
|
|
NC_012920.1(MT-ATP6):m.9086C>T
|
rs1603222049
|
|
NC_012920.1(MT-ATP6):m.9099C>A
|
rs1603222065
|
|
NC_012920.1(MT-ATP6):m.9104T>C
|
rs1603222079
|
|
NC_012920.1(MT-ATP6):m.9106A>G
|
rs1603222082
|
|
NC_012920.1(MT-ATP6):m.9122T>G
|
rs1603222104
|
|
NC_012920.1(MT-ATP6):m.9125C>T
|
rs1603222109
|
|
NC_012920.1(MT-ATP6):m.9133G>A
|
rs1603222118
|
|
NC_012920.1(MT-ATP6):m.9140C>T
|
rs878972895
|
|
NC_012920.1(MT-ATP6):m.9160T>C
|
rs1603222140
|
|
NC_012920.1(MT-ATP6):m.9167T>C
|
rs1603222143
|
|
NC_012920.1(MT-ATP6):m.9169A>G
|
rs1603222145
|
|
NC_012920.1(MT-ATP6):m.9170C>T
|
rs1603222148
|
|
NC_012920.1(MT-ATP6):m.9179T>C
|
rs1603222150
|
|
NC_012920.1(MT-ATP6):m.9188A>G
|
rs1603222161
|
|
NC_012920.1(MT-ATP6):m.9194A>G
|
rs1603222162
|
|
NC_012920.1(MT-ATP6):m.9202A>G
|
rs1603222169
|
|
NC_012920.1(MT-ATP6):m.9205T>C
|
rs1603222171
|
|
NC_012920.1(MT-ATP8):m.8369C>T
|
rs1603221429
|
|
NC_012920.1(MT-ATP8):m.8373A>G
|
rs1603221431
|
|
NC_012920.1(MT-ATP8):m.8373A>T
|
rs1603221431
|
|
NC_012920.1(MT-ATP8):m.8379A>G
|
rs1603221434
|
|
NC_012920.1(MT-ATP8):m.8381A>T
|
rs1603221438
|
|
NC_012920.1(MT-ATP8):m.8382C>T
|
rs1556423437
|
|
NC_012920.1(MT-ATP8):m.8394C>T
|
rs1603221450
|
|
NC_012920.1(MT-ATP8):m.8397C>G
|
rs1603221456
|
|
NC_012920.1(MT-ATP8):m.8403T>C
|
rs1603221460
|
|
NC_012920.1(MT-ATP8):m.8411A>C
|
rs878942289
|
|
NC_012920.1(MT-ATP8):m.8411A>G
|
rs878942289
|
|
NC_012920.1(MT-ATP8):m.8412T>C
|
rs1556423451
|
|
NC_012920.1(MT-ATP8):m.8415T>C
|
rs1603221470
|
|
NC_012920.1(MT-ATP8):m.8430T>C
|
rs1603221478
|
|
NC_012920.1(MT-ATP8):m.8435A>T
|
rs1603221481
|
|
NC_012920.1(MT-ATP8):m.8466A>G
|
rs1603221500
|
|
NC_012920.1(MT-ATP8):m.8469T>C
|
rs1603221503
|
|
NC_012920.1(MT-ATP8):m.8474C>T
|
rs1603221515
|
|
NC_012920.1(MT-ATP8):m.8480C>T
|
rs1603221520
|
|
NC_012920.1(MT-ATP8):m.8481C>T
|
rs1603221521
|
|
NC_012920.1(MT-ATP8):m.8502A>T
|
rs879247004
|
|
NC_012920.1(MT-ATP8):m.8514C>T
|
rs1603221554
|
|
NC_012920.1(MT-CO1):m.5907T>C
|
rs1603220176
|
|
NC_012920.1(MT-CO1):m.5961C>A
|
rs1603220201
|
|
NC_012920.1(MT-CO1):m.6012A>G
|
rs1603220222
|
|
NC_012920.1(MT-CO1):m.6037G>A
|
rs1603220237
|
|
NC_012920.1(MT-CO1):m.6048G>A
|
rs1603220242
|
|
NC_012920.1(MT-CO1):m.6060A>C
|
rs1603220250
|
|
NC_012920.1(MT-CO1):m.6061T>C
|
rs1603220252
|
|
NC_012920.1(MT-CO1):m.6072A>G
|
rs1556423078
|
|
NC_012920.1(MT-CO1):m.6075G>A
|
rs1603220260
|
|
NC_012920.1(MT-CO1):m.6081G>T
|
rs1603220261
|
|
NC_012920.1(MT-CO1):m.6093G>A
|
rs1603220271
|
|
NC_012920.1(MT-CO1):m.6109T>C
|
rs1603220275
|
|
NC_012920.1(MT-CO1):m.6120A>G
|
rs878853023
|
|
NC_012920.1(MT-CO1):m.6121T>C
|
rs1603220280
|
|
NC_012920.1(MT-CO1):m.6132G>A
|
rs1603220289
|
|
NC_012920.1(MT-CO1):m.6174G>A
|
rs1603220303
|
|
NC_012920.1(MT-CO1):m.6258G>A
|
rs1603220372
|
|
NC_012920.1(MT-CO1):m.6273A>G
|
rs1603220381
|
|
NC_012920.1(MT-CO1):m.6286T>C
|
rs1603220392
|
|
NC_012920.1(MT-CO1):m.6289A>G
|
rs1603220395
|
|
NC_012920.1(MT-CO1):m.6307A>G
|
rs1603220406
|
|
NC_012920.1(MT-CO1):m.6324G>A
|
rs1603220417
|
|
NC_012920.1(MT-CO1):m.6358T>C
|
rs1603220439
|
|
NC_012920.1(MT-CO1):m.6393T>C
|
rs879212050
|
|
NC_012920.1(MT-CO1):m.6420C>A
|
rs1603220466
|
|
NC_012920.1(MT-CO1):m.6481T>C
|
rs28721398
|
|
NC_012920.1(MT-CO1):m.6504G>A
|
rs1603220512
|
|
NC_012920.1(MT-CO1):m.6505T>C
|
rs28371932
|
|
NC_012920.1(MT-CO1):m.6520T>C
|
rs1603220520
|
|
NC_012920.1(MT-CO1):m.6550A>G
|
rs1603220532
|
|
NC_012920.1(MT-CO1):m.6564G>A
|
rs1603220535
|
|
NC_012920.1(MT-CO1):m.6642A>G
|
rs1603220559
|
|
NC_012920.1(MT-CO1):m.6664T>C
|
rs1603220567
|
|
NC_012920.1(MT-CO1):m.6709G>A
|
rs1603220583
|
|
NC_012920.1(MT-CO1):m.6712A>T
|
rs1603220586
|
|
NC_012920.1(MT-CO1):m.6714A>G
|
rs1603220588
|
|
NC_012920.1(MT-CO1):m.6747T>C
|
rs1603220609
|
|
NC_012920.1(MT-CO1):m.6748T>C
|
rs1556423171
|
|
NC_012920.1(MT-CO1):m.6756T>C
|
rs1603220617
|
|
NC_012920.1(MT-CO1):m.6781T>C
|
rs1603220626
|
|
NC_012920.1(MT-CO1):m.6844T>C
|
rs1603220647
|
|
NC_012920.1(MT-CO1):m.6855G>A
|
rs1603220653
|
|
NC_012920.1(MT-CO1):m.6856T>C
|
rs1603220654
|
|
NC_012920.1(MT-CO1):m.6868G>A
|
rs1603220657
|
|
NC_012920.1(MT-CO1):m.6876G>A
|
rs1603220659
|
|
NC_012920.1(MT-CO1):m.6897A>G
|
rs1603220675
|
|
NC_012920.1(MT-CO1):m.6909G>A
|
rs1603220684
|
|
NC_012920.1(MT-CO1):m.6912G>A
|
rs1603220686
|
|
NC_012920.1(MT-CO1):m.6916T>C
|
rs1603220688
|
|
NC_012920.1(MT-CO1):m.6924G>A
|
rs1603220692
|
|
NC_012920.1(MT-CO1):m.6972G>C
|
rs1603220724
|
|
NC_012920.1(MT-CO1):m.6978G>A
|
rs28451817
|
|
NC_012920.1(MT-CO1):m.6987T>G
|
rs1603220727
|
|
NC_012920.1(MT-CO1):m.7015A>G
|
rs1603220734
|
|
NC_012920.1(MT-CO1):m.7020G>A
|
rs1603220735
|
|
NC_012920.1(MT-CO1):m.7032T>C
|
rs1603220739
|
|
NC_012920.1(MT-CO1):m.7053G>A
|
rs1603220753
|
|
NC_012920.1(MT-CO1):m.7077G>A
|
rs1603220764
|
|
NC_012920.1(MT-CO1):m.7084T>C
|
rs28445709
|
|
NC_012920.1(MT-CO1):m.7125A>G
|
rs1603220786
|
|
NC_012920.1(MT-CO1):m.7138T>C
|
rs1603220794
|
|
NC_012920.1(MT-CO1):m.7146_7147inv
|
|
|
NC_012920.1(MT-CO1):m.7147C>T
|
rs1603220799
|
|
NC_012920.1(MT-CO1):m.7153T>C
|
rs1603220805
|
|
NC_012920.1(MT-CO1):m.7155T>C
|
rs1603220808
|
|
NC_012920.1(MT-CO1):m.7168A>G
|
rs1603220812
|
|
NC_012920.1(MT-CO1):m.7187A>T
|
rs1603220823
|
|
NC_012920.1(MT-CO1):m.7233C>T
|
rs1603220839
|
|
NC_012920.1(MT-CO1):m.7249C>T
|
rs1603220851
|
|
NC_012920.1(MT-CO1):m.7272G>A
|
rs28415137
|
|
NC_012920.1(MT-CO1):m.7279T>C
|
rs1603220861
|
|
NC_012920.1(MT-CO1):m.7284T>G
|
rs1603220868
|
|
NC_012920.1(MT-CO1):m.7290A>G
|
rs1603220870
|
|
NC_012920.1(MT-CO1):m.7300T>C
|
rs1603220877
|
|
NC_012920.1(MT-CO1):m.7332G>A
|
rs1603220889
|
|
NC_012920.1(MT-CO1):m.7347G>A
|
rs1603220894
|
|
NC_012920.1(MT-CO1):m.7357T>C
|
rs1603220914
|
|
NC_012920.1(MT-CO1):m.7362G>A
|
rs1603220917
|
|
NC_012920.1(MT-CO1):m.7365C>A
|
rs1603220919
|
|
NC_012920.1(MT-CO1):m.7374A>G
|
rs1603220927
|
|
NC_012920.1(MT-CO1):m.7408A>G
|
rs1603220949
|
|
NC_012920.1(MT-CO1):m.7431T>C
|
rs1603220957
|
|
NC_012920.1(MT-CO1):m.7440T>C
|
rs1603220962
|
|
NC_012920.1(MT-CO1):m.7440T>G
|
rs1603220962
|
|
NC_012920.1(MT-CO2):m.7608G>A
|
rs1603221035
|
|
NC_012920.1(MT-CO2):m.7628C>A
|
rs1603221045
|
|
NC_012920.1(MT-CO2):m.7632T>C
|
rs1603221049
|
|
NC_012920.1(MT-CO2):m.7650C>T
|
rs1603221063
|
|
NC_012920.1(MT-CO2):m.7664G>T
|
rs879139393
|
|
NC_012920.1(MT-CO2):m.7686T>C
|
rs1603221081
|
|
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|
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|
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NC_012920.1(MT-CO2):m.7706G>A
|
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|
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NC_012920.1(MT-CO2):m.7713T>C
|
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|
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NC_012920.1(MT-CO2):m.7718A>G
|
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|
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NC_012920.1(MT-CO2):m.7751T>G
|
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|
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NC_012920.1(MT-CO2):m.7806T>C
|
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|
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NC_012920.1(MT-CO2):m.7811A>G
|
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|
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NC_012920.1(MT-CO2):m.7814G>A
|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CO2):m.7868C>T
|
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|
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NC_012920.1(MT-CO2):m.7874A>G
|
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|
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NC_012920.1(MT-CO2):m.7898T>C
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CO2):m.7976G>A
|
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|
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NC_012920.1(MT-CO2):m.7980A>G
|
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|
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NC_012920.1(MT-CO2):m.8001A>G
|
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|
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NC_012920.1(MT-CO2):m.8010T>C
|
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|
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NC_012920.1(MT-CO2):m.8012G>A
|
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|
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NC_012920.1(MT-CO2):m.8030C>T
|
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|
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|
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|
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NC_012920.1(MT-CO2):m.8060G>A
|
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|
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|
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|
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NC_012920.1(MT-CO2):m.8079T>C
|
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|
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NC_012920.1(MT-CO2):m.8135T>C
|
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|
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|
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|
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NC_012920.1(MT-CO2):m.8187G>A
|
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|
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NC_012920.1(MT-CO2):m.8210A>G
|
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|
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NC_012920.1(MT-CO2):m.8225A>G
|
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|
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NC_012920.1(MT-CO2):m.8238T>C
|
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|
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NC_012920.1(MT-CO2):m.8252C>T
|
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|
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NC_012920.1(MT-CO2):m.8265T>C
|
rs1603221364
|
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NC_012920.1(MT-CO3):m.9217A>G
|
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|
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NC_012920.1(MT-CO3):m.9219T>G
|
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|
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NC_012920.1(MT-CO3):m.9247G>A
|
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|
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NC_012920.1(MT-CO3):m.9261A>G
|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CO3):m.9294G>A
|
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|
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NC_012920.1(MT-CO3):m.9304T>C
|
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|
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NC_012920.1(MT-CO3):m.9309T>C
|
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|
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NC_012920.1(MT-CO3):m.9319A>G
|
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|
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NC_012920.1(MT-CO3):m.9327A>C
|
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|
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NC_012920.1(MT-CO3):m.9331T>C
|
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|
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NC_012920.1(MT-CO3):m.9342G>A
|
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|
|
NC_012920.1(MT-CO3):m.9357A>G
|
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|
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|
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|
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NC_012920.1(MT-CO3):m.9387G>A
|
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|
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NC_012920.1(MT-CO3):m.9390A>G
|
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|
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NC_012920.1(MT-CO3):m.9405T>C
|
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|
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NC_012920.1(MT-CO3):m.9439G>A
|
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|
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NC_012920.1(MT-CO3):m.9445G>A
|
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|
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|
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|
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NC_012920.1(MT-CO3):m.9477G>C
|
rs2853825
|
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NC_012920.1(MT-CO3):m.9478T>G
|
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|
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NC_012920.1(MT-CO3):m.9480T>C
|
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|
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NC_012920.1(MT-CO3):m.9481T>C
|
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|
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NC_012920.1(MT-CO3):m.9484T>C
|
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|
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NC_012920.1(MT-CO3):m.9508T>A
|
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|
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NC_012920.1(MT-CO3):m.9549C>T
|
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|
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NC_012920.1(MT-CO3):m.9564G>A
|
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|
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NC_012920.1(MT-CO3):m.9577T>C
|
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|
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NC_012920.1(MT-CO3):m.9580A>C
|
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|
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NC_012920.1(MT-CO3):m.9582C>T
|
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|
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NC_012920.1(MT-CO3):m.9588G>A
|
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|
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NC_012920.1(MT-CO3):m.9631T>C
|
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|
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NC_012920.1(MT-CO3):m.9636A>G
|
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|
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NC_012920.1(MT-CO3):m.9637T>C
|
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|
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NC_012920.1(MT-CO3):m.9652A>G
|
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|
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NC_012920.1(MT-CO3):m.9654A>G
|
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|
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NC_012920.1(MT-CO3):m.9685T>C
|
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|
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NC_012920.1(MT-CO3):m.9699A>G
|
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|
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NC_012920.1(MT-CO3):m.9700T>C
|
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|
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NC_012920.1(MT-CO3):m.9705A>G
|
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|
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NC_012920.1(MT-CO3):m.9706T>C
|
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|
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NC_012920.1(MT-CO3):m.9751T>G
|
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|
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|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CO3):m.9765A>G
|
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|
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|
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|
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NC_012920.1(MT-CO3):m.9786G>A
|
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|
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NC_012920.1(MT-CO3):m.9802T>C
|
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|
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NC_012920.1(MT-CO3):m.9804G>C
|
rs200613617
|
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|
rs200613617
|
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|
rs1556423727
|
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|
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|
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NC_012920.1(MT-CO3):m.9820G>A
|
rs1603222513
|
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NC_012920.1(MT-CO3):m.9822C>T
|
rs1556423729
|
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NC_012920.1(MT-CO3):m.9828G>A
|
rs1603222521
|
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NC_012920.1(MT-CO3):m.9837G>A
|
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|
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NC_012920.1(MT-CO3):m.9838G>A
|
rs1603222533
|
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|
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|
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|
rs1603222560
|
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NC_012920.1(MT-CO3):m.9911C>A
|
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|
|
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|
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|
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|
rs200809063
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CYB):m.10014G>A
|
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|
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|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CYB):m.10043del
|
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|
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NC_012920.1(MT-CYB):m.10048A>G
|
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|
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NC_012920.1(MT-CYB):m.10055A>G
|
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|
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NC_012920.1(MT-CYB):m.10405T>C
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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NC_012920.1(MT-CYB):m.12241dup
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
rs1603224860
|
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|
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|
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|
rs1603224870
|
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|
rs1603224879
|
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NC_012920.1(MT-CYB):m.14786A>G
|
rs1603224884
|
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|
rs1603224892
|
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|
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|
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NC_012920.1(MT-CYB):m.14804G>A
|
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|
|
NC_012920.1(MT-CYB):m.14813A>T
|
rs1603224906
|
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|
rs1603224912
|
|
NC_012920.1(MT-CYB):m.14826T>C
|
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|
|
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|
rs199795644
|
|
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|
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|
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|
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|
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NC_012920.1(MT-CYB):m.14873C>T
|
rs879056276
|
|
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|
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|
|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
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|
rs1603224985
|
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|
rs1569484685
|
|
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|
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|
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|
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|
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|
rs1603225000
|
|
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|
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|
|
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|
rs1603225014
|
|
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|
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|
|
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|
rs1603225024
|
|
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|
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|
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|
rs1603225041
|
|
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|
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|
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NC_012920.1(MT-CYB):m.15059G>A
|
rs1603225052
|
|
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|
rs1603225056
|
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|
rs1603225065
|
|
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|
rs1603225079
|
|
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|
rs1603225092
|
|
NC_012920.1(MT-CYB):m.15138A>G
|
rs1603225106
|
|
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|
rs1603225108
|
|
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|
rs1603225113
|
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|
rs1556424536
|
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|
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|
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|
rs878912989
|
|
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|
rs1603225142
|
|
NC_012920.1(MT-CYB):m.15222A>G
|
rs1603225158
|
|
NC_012920.1(MT-CYB):m.15228T>C
|
rs1603225161
|
|
NC_012920.1(MT-CYB):m.15233T>C
|
rs1603225163
|
|
NC_012920.1(MT-CYB):m.15233T>G
|
rs1603225163
|
|
NC_012920.1(MT-CYB):m.15237T>G
|
rs879217377
|
|
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|
rs1603225166
|
|
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|
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|
|
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|
rs1603225169
|
|
NC_012920.1(MT-CYB):m.15257_15258delinsAG
|
rs1603225179
|
|
NC_012920.1(MT-CYB):m.15266A>G
|
rs1603225185
|
|
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|
rs1603225189
|
|
NC_012920.1(MT-CYB):m.15294T>C
|
rs1603225203
|
|
NC_012920.1(MT-CYB):m.15309T>C
|
rs1603225211
|
|
NC_012920.1(MT-CYB):m.15326_15327inv
|
|
|
NC_012920.1(MT-CYB):m.15327C>T
|
rs1603225222
|
|
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|
rs1603225228
|
|
NC_012920.1(MT-CYB):m.15357G>A
|
rs1603225244
|
|
NC_012920.1(MT-CYB):m.15404T>C
|
rs1603225259
|
|
NC_012920.1(MT-CYB):m.15413T>C
|
rs1603225265
|
|
NC_012920.1(MT-CYB):m.15414A>T
|
rs1603225266
|
|
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|
|
NC_012920.1(MT-ND5):m.13712C>T
|
rs1603224311
|
|
NC_012920.1(MT-ND5):m.13726G>A
|
rs1603224322
|
|
NC_012920.1(MT-ND5):m.13760C>T
|
rs1603224340
|
|
NC_012920.1(MT-ND5):m.13835C>T
|
rs1603224377
|
|
NC_012920.1(MT-ND5):m.13885C>A
|
rs1603224399
|
|
NC_012920.1(MT-ND5):m.13913T>C
|
rs1603224410
|
|
NC_012920.1(MT-ND5):m.13919T>C
|
rs1603224418
|
|
NC_012920.1(MT-ND5):m.13946T>C
|
rs1603224429
|
|
NC_012920.1(MT-ND5):m.13974A>T
|
rs1603224443
|
|
NC_012920.1(MT-ND5):m.14020T>G
|
rs1556424369
|
|
NC_012920.1(MT-ND5):m.14042A>T
|
rs1603224485
|
|
NC_012920.1(MT-ND5):m.14050T>C
|
rs879112261
|
|
NC_012920.1(MT-ND5):m.14051C>T
|
rs1603224492
|
|
NC_012920.1(MT-ND5):m.14053A>C
|
rs200134839
|
|
NC_012920.1(MT-ND5):m.14091A>T
|
rs1603224520
|
|
NC_012920.1(MT-ND5):m.14112C>A
|
rs1603224530
|
|
NC_012920.1(MT-ND5):m.14113T>C
|
rs1603224531
|
|
NC_012920.1(MT-ND5):m.14138T>C
|
rs1603224549
|
|
NC_012920.1(MT-ND5):m.14140A>G
|
rs1603224551
|
|
NC_012920.1(MT-ND5):m.14143A>G
|
rs1603224556
|
|
NC_012920.1(MT-ND5):m.14144C>T
|
rs1603224557
|
|
NC_012920.1(MT-ND6):m.14154T>G
|
rs1603224566
|
|
NC_012920.1(MT-ND6):m.14180T>G
|
rs200933339
|
|
NC_012920.1(MT-ND6):m.14199T>C
|
rs2857288
|
|
NC_012920.1(MT-ND6):m.14210A>G
|
rs1603224604
|
|
NC_012920.1(MT-ND6):m.14225C>T
|
rs1603224611
|
|
NC_012920.1(MT-ND6):m.14231T>C
|
rs1603224615
|
|
NC_012920.1(MT-ND6):m.14234T>C
|
rs1603224619
|
|
NC_012920.1(MT-ND6):m.14276C>T
|
rs1603224645
|
|
NC_012920.1(MT-ND6):m.14297A>G
|
rs1603224655
|
|
NC_012920.1(MT-ND6):m.14301T>C
|
rs1603224659
|
|
NC_012920.1(MT-ND6):m.14307T>C
|
rs1603224663
|
|
NC_012920.1(MT-ND6):m.14328C>T
|
rs1603224675
|
|
NC_012920.1(MT-ND6):m.14339A>G
|
rs1603224682
|
|
NC_012920.1(MT-ND6):m.14375A>C
|
rs1603224702
|
|
NC_012920.1(MT-ND6):m.14382T>G
|
rs1603224704
|
|
NC_012920.1(MT-ND6):m.14423G>A
|
rs1603224726
|
|
NC_012920.1(MT-ND6):m.14444T>C
|
rs1603224732
|
|
NC_012920.1(MT-ND6):m.14466T>C
|
rs1603224741
|
|
NC_012920.1(MT-ND6):m.14468T>C
|
rs1603224744
|
|
NC_012920.1(MT-ND6):m.14484T>G
|
rs199476104
|
|
NC_012920.1(MT-ND6):m.14523T>C
|
rs1603224780
|
|
NC_012920.1(MT-ND6):m.14544G>T
|
rs371485573
|
|
NC_012920.1(MT-ND6):m.14573A>G
|
rs1603224794
|
|
NC_012920.1(MT-ND6):m.14576A>G
|
rs1603224796
|
|
NC_012920.1(MT-ND6):m.14601G>A
|
rs1603224806
|
|
NC_012920.1(MT-ND6):m.14615G>A
|
rs1603224810
|
|
NC_012920.1(MT-ND6):m.14619A>G
|
rs1556424471
|
|
NC_012920.1(MT-ND6):m.14627A>G
|
rs1603224811
|
|
NC_012920.1(MT-ND6):m.14660A>G
|
rs1603224821
|
|
NC_012920.1(MT-ND6):m.14667A>G
|
rs1603224822
|
|
NC_012920.1(MT-ND6):m.14670T>C
|
rs1603224824
|
|
NC_012920.1:m.11360A>G
|
rs878928689
|
|
NC_012920.1:m.14597A>G
|
rs797045055
|
|
NC_012920.1:m.15060G>A
|
rs1057516072
|
|
NC_012920.1:m.15246G>A
|
rs1057516075
|
|
NC_012920.1:m.15453T>C
|
rs527236184
|
|
NC_012920.1:m.3928G>C
|
rs587776442
|
|
NC_012920.1:m.5505A>G
|
rs1569484003
|
|
NC_012920.1:m.5559A>G
|
rs1556423008
|
|
NC_012920.1:m.7041G>A
|
rs1556423220
|
|
NC_012920.1:m.7496T>C
|
rs1057516061
|
|
NC_012920.1:m.8540T>C
|
rs878852987
|
|
NC_012920.1:m.8550A>G
|
rs1603221581
|
|
NC_012920.1:m.8568C>A
|
rs1603221589
|
|
NC_012920.1:m.8651T>C
|
rs1556423512
|
|
NC_012920.1:m.8686T>C
|
rs1569484231
|
|
NC_012920.1:m.9166T>C
|
rs1057516063
|
|
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)
|
rs1064793382
|
|
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser)
|
rs767138639
|
|
NM_000018.4(ACADVL):c.1055T>G (p.Met352Arg)
|
rs2071296504
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1064T>G (p.Ile355Ser)
|
rs1351976589
|
|
NM_000018.4(ACADVL):c.1077+3_1077+6del
|
rs2071298305
|
|
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)
|
rs1165915680
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
NM_000018.4(ACADVL):c.1103A>T (p.Gln368Leu)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1141G>A (p.Glu381Lys)
|
rs1212266005
|
|
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)
|
rs756194870
|
|
NM_000018.4(ACADVL):c.1183-7A>G
|
rs750441118
|
|
NM_000018.4(ACADVL):c.1205C>A (p.Ala402Asp)
|
rs727503793
|
|
NM_000018.4(ACADVL):c.1222G>A (p.Ala408Thr)
|
rs2071338597
|
|
NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg)
|
rs2071340371
|
|
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)
|
rs1451455641
|
|
NM_000018.4(ACADVL):c.1269+13dup
|
rs2071341157
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His)
|
rs781658827
|
|
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)
|
rs2071346777
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1329G>A (p.Met443Ile)
|
rs2071347136
|
|
NM_000018.4(ACADVL):c.1346A>G (p.Glu449Gly)
|
rs765346654
|
|
NM_000018.4(ACADVL):c.1358G>C (p.Arg453Pro)
|
rs138058572
|
|
NM_000018.4(ACADVL):c.1360G>C (p.Asp454His)
|
rs1419606204
|
|
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)
|
rs751995154
|
|
NM_000018.4(ACADVL):c.138+5G>A
|
rs2071124642
|
|
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser)
|
rs755432945
|
|
NM_000018.4(ACADVL):c.1387G>C (p.Gly463Arg)
|
rs2071355667
|
|
NM_000018.4(ACADVL):c.1391C>G (p.Thr464Arg)
|
rs1555528796
|
|
NM_000018.4(ACADVL):c.1429T>C (p.Cys477Arg)
|
rs2071357577
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1434+14T>C
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala)
|
rs764943140
|
|
NM_000018.4(ACADVL):c.1538C>A (p.Ala513Glu)
|
rs766003820
|
|
NM_000018.4(ACADVL):c.1606-10A>C
|
rs2071381723
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val)
|
rs2071384243
|
|
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del)
|
rs866424446
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
NM_000018.4(ACADVL):c.1708G>T (p.Asp570Tyr)
|
rs2071394443
|
|
NM_000018.4(ACADVL):c.1744C>T (p.Leu582Phe)
|
rs1466587776
|
|
NM_000018.4(ACADVL):c.1751G>C (p.Arg584Thr)
|
rs754123613
|
|
NM_000018.4(ACADVL):c.1763C>T (p.Ser588Phe)
|
rs2071402000
|
|
NM_000018.4(ACADVL):c.1800A>T (p.Lys600Asn)
|
rs2071403522
|
|
NM_000018.4(ACADVL):c.1807T>C (p.Cys603Arg)
|
rs2071403861
|
|
NM_000018.4(ACADVL):c.1813A>C (p.Thr605Pro)
|
rs2071404097
|
|
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala)
|
rs908625615
|
|
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys)
|
rs2071412683
|
|
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro)
|
rs774762384
|
|
NM_000018.4(ACADVL):c.1937G>T (p.Gly646Val)
|
rs768878569
|
|
NM_000018.4(ACADVL):c.205-34A>G
|
rs770101303
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.218T>C (p.Phe73Ser)
|
rs2071156261
|
|
NM_000018.4(ACADVL):c.271C>T (p.Pro91Ser)
|
rs398123087
|
|
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)
|
rs2071160066
|
|
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe)
|
rs757608507
|
|
NM_000018.4(ACADVL):c.338T>C (p.Phe113Ser)
|
rs2071172343
|
|
NM_000018.4(ACADVL):c.353_358del (p.Asp118_Pro119del)
|
rs2071181405
|
|
NM_000018.4(ACADVL):c.358_360del (p.Ala120del)
|
rs761449573
|
|
NM_000018.4(ACADVL):c.367G>A (p.Asp123Asn)
|
rs1347143307
|
|
NM_000018.4(ACADVL):c.367G>T (p.Asp123Tyr)
|
rs1347143307
|
|
NM_000018.4(ACADVL):c.378G>T (p.Glu126Asp)
|
rs2071183181
|
|
NM_000018.4(ACADVL):c.404_412del (p.Gly135_Lys137del)
|
rs2071184523
|
|
NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala)
|
rs1458941582
|
|
NM_000018.4(ACADVL):c.436G>A (p.Val146Met)
|
rs398123089
|
|
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)
|
rs1032857886
|
|
NM_000018.4(ACADVL):c.461G>C (p.Gly154Ala)
|
rs2071188406
|
|
NM_000018.4(ACADVL):c.466T>C (p.Cys156Arg)
|
rs2071188725
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
NM_000018.4(ACADVL):c.477+50A>T
|
rs150033153
|
|
NM_000018.4(ACADVL):c.477G>C (p.Gln159His)
|
rs2071189324
|
|
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)
|
rs2071225938
|
|
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys)
|
rs2071226145
|
|
NM_000018.4(ACADVL):c.503G>A (p.Gly168Asp)
|
rs2071227236
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.545A>C (p.Gln182Pro)
|
rs2071230096
|
|
NM_000018.4(ACADVL):c.563G>A (p.Gly188Asp)
|
rs2071231444
|
|
NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser)
|
rs1555528189
|
|
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu)
|
rs2071233392
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.623-35C>A
|
rs1303764728
|
|
NM_000018.4(ACADVL):c.623G>A (p.Gly208Glu)
|
rs2071251302
|
|
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)
|
rs2071252145
|
|
NM_000018.4(ACADVL):c.650C>T (p.Thr217Ile)
|
rs2071252808
|
|
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
|
rs1241935771
|
|
NM_000018.4(ACADVL):c.705C>A (p.Ser235Arg)
|
rs2071256120
|
|
NM_000018.4(ACADVL):c.753-27C>T
|
rs374911841
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
NM_000018.4(ACADVL):c.755A>G (p.Asn252Ser)
|
rs2071263384
|
|
NM_000018.4(ACADVL):c.758G>A (p.Gly253Glu)
|
rs2071263753
|
|
NM_000018.4(ACADVL):c.766G>C (p.Ala256Pro)
|
rs2071264273
|
|
NM_000018.4(ACADVL):c.773T>G (p.Ile258Ser)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)
|
rs1597528061
|
|
NM_000018.4(ACADVL):c.808C>T (p.Pro270Ser)
|
rs2071266963
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)
|
rs201509063
|
|
NM_000018.4(ACADVL):c.879-11C>G
|
rs1395957890
|
|
NM_000018.4(ACADVL):c.889G>A (p.Glu297Lys)
|
rs2071287310
|
|
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)
|
rs796051914
|
|
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)
|
rs1026112888
|
|
NM_000018.4(ACADVL):c.901G>A (p.Gly301Ser)
|
rs199738655
|
|
NM_000018.4(ACADVL):c.904A>T (p.Ile302Phe)
|
rs2071288448
|
|
NM_000018.4(ACADVL):c.920C>G (p.Thr307Arg)
|
rs866743364
|
|
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu)
|
rs149467828
|
|
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu)
|
rs947624074
|
|
NM_001278716.2(FBXL4):c.*3_*5delinsCAG
|
rs386704156
|
|
NM_001278716.2(FBXL4):c.-15A>G
|
rs767080612
|
|
NM_001278716.2(FBXL4):c.103C>T (p.His35Tyr)
|
rs376425290
|
|
NM_001278716.2(FBXL4):c.1056A>T (p.Leu352Phe)
|
rs779748858
|
|
NM_001278716.2(FBXL4):c.105T>C (p.His35=)
|
rs34316889
|
|
NM_001278716.2(FBXL4):c.1067G>C (p.Gly356Ala)
|
rs758201051
|
|
NM_001278716.2(FBXL4):c.1070A>G (p.Asn357Ser)
|
rs150436385
|
|
NM_001278716.2(FBXL4):c.1071T>G (p.Asn357Lys)
|
rs761676733
|
|
NM_001278716.2(FBXL4):c.1103+13C>G
|
rs182076681
|
|
NM_001278716.2(FBXL4):c.1104-4G>A
|
rs370992555
|
|
NM_001278716.2(FBXL4):c.1104-4G>T
|
rs370992555
|
|
NM_001278716.2(FBXL4):c.1115T>C (p.Val372Ala)
|
rs775001296
|
|
NM_001278716.2(FBXL4):c.1139T>C (p.Leu380Pro)
|
rs749139510
|
|
NM_001278716.2(FBXL4):c.1166A>G (p.Asn389Ser)
|
rs766384678
|
|
NM_001278716.2(FBXL4):c.1172C>T (p.Thr391Ile)
|
rs750610341
|
|
NM_001278716.2(FBXL4):c.1224C>G (p.Leu408=)
|
rs771478220
|
|
NM_001278716.2(FBXL4):c.1226C>A (p.Ser409Tyr)
|
rs745441524
|
|
NM_001278716.2(FBXL4):c.1247C>T (p.Pro416Leu)
|
rs749048612
|
|
NM_001278716.2(FBXL4):c.1318-10C>A
|
rs779074627
|
|
NM_001278716.2(FBXL4):c.1318-10C>T
|
rs779074627
|
|
NM_001278716.2(FBXL4):c.1339T>C (p.Leu447=)
|
rs778026970
|
|
NM_001278716.2(FBXL4):c.1349G>A (p.Cys450Tyr)
|
rs745312139
|
|
NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=)
|
rs141165629
|
|
NM_001278716.2(FBXL4):c.1356G>A (p.Glu452=)
|
rs760108335
|
|
NM_001278716.2(FBXL4):c.1361A>C (p.Gln454Pro)
|
rs1358019444
|
|
NM_001278716.2(FBXL4):c.1370G>A (p.Ser457Asn)
|
rs556983043
|
|
NM_001278716.2(FBXL4):c.137C>T (p.Pro46Leu)
|
rs371782465
|
|
NM_001278716.2(FBXL4):c.1389+18C>A
|
rs200207652
|
|
NM_001278716.2(FBXL4):c.1389+4A>T
|
rs761482653
|
|
NM_001278716.2(FBXL4):c.1389+5G>A
|
rs756894323
|
|
NM_001278716.2(FBXL4):c.1389G>C (p.Met463Ile)
|
rs769623309
|
|
NM_001278716.2(FBXL4):c.1390-17A>G
|
rs752105736
|
|
NM_001278716.2(FBXL4):c.1396G>C (p.Asp466His)
|
rs749992904
|
|
NM_001278716.2(FBXL4):c.1399T>A (p.Tyr467Asn)
|
rs764944877
|
|
NM_001278716.2(FBXL4):c.1440A>T (p.Lys480Asn)
|
rs775383714
|
|
NM_001278716.2(FBXL4):c.1468A>G (p.Lys490Glu)
|
rs781339281
|
|
NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=)
|
rs556881504
|
|
NM_001278716.2(FBXL4):c.1526A>C (p.Glu509Ala)
|
rs759005691
|
|
NM_001278716.2(FBXL4):c.1528C>G (p.Leu510Val)
|
rs749904912
|
|
NM_001278716.2(FBXL4):c.1533C>A (p.Asp511Glu)
|
rs764855095
|
|
NM_001278716.2(FBXL4):c.1549A>C (p.Thr517Pro)
|
rs763702280
|
|
NM_001278716.2(FBXL4):c.1553T>G (p.Leu518Arg)
|
rs760486704
|
|
NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=)
|
rs11537982
|
|
NM_001278716.2(FBXL4):c.158A>T (p.Gln53Leu)
|
rs766584290
|
|
NM_001278716.2(FBXL4):c.1617T>G (p.Phe539Leu)
|
rs747337638
|
|
NM_001278716.2(FBXL4):c.1628A>C (p.Asn543Thr)
|
rs371973036
|
|
NM_001278716.2(FBXL4):c.1631G>A (p.Arg544Lys)
|
rs746383238
|
|
NM_001278716.2(FBXL4):c.1662G>A (p.Leu554=)
|
rs756767279
|
|
NM_001278716.2(FBXL4):c.167A>G (p.Lys56Arg)
|
rs763205435
|
|
NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=)
|
rs183776114
|
|
NM_001278716.2(FBXL4):c.1700T>C (p.Leu567Ser)
|
rs751487933
|
|
NM_001278716.2(FBXL4):c.1702+11A>T
|
rs369407577
|
|
NM_001278716.2(FBXL4):c.1702+18A>G
|
rs776605924
|
|
NM_001278716.2(FBXL4):c.1702+6G>A
|
rs766278048
|
|
NM_001278716.2(FBXL4):c.1703-10C>A
|
rs747707911
|
|
NM_001278716.2(FBXL4):c.1703-9C>T
|
rs780793598
|
|
NM_001278716.2(FBXL4):c.1721C>A (p.Pro574Gln)
|
rs779731686
|
|
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu)
|
rs779731686
|
|
NM_001278716.2(FBXL4):c.1723G>A (p.Ala575Thr)
|
rs200435702
|
|
NM_001278716.2(FBXL4):c.1739T>C (p.Leu580Pro)
|
rs757154231
|
|
NM_001278716.2(FBXL4):c.1745A>C (p.Glu582Ala)
|
rs774709441
|
|
NM_001278716.2(FBXL4):c.1745A>G (p.Glu582Gly)
|
rs774709441
|
|
NM_001278716.2(FBXL4):c.1748C>G (p.Ser583Cys)
|
rs766646887
|
|
NM_001278716.2(FBXL4):c.1760T>C (p.Leu587Pro)
|
rs773572240
|
|
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)
|
rs747618415
|
|
NM_001278716.2(FBXL4):c.1779C>T (p.Ser593=)
|
rs746650044
|
|
NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=)
|
rs745713189
|
|
NM_001278716.2(FBXL4):c.1788G>T (p.Ser596=)
|
rs745713189
|
|
NM_001278716.2(FBXL4):c.216C>T (p.Ser72=)
|
rs769167772
|
|
NM_001278716.2(FBXL4):c.230A>G (p.Asn77Ser)
|
rs771565511
|
|
NM_001278716.2(FBXL4):c.23T>C (p.Leu8Ser)
|
rs746000252
|
|
NM_001278716.2(FBXL4):c.249T>C (p.Asn83=)
|
rs372346466
|
|
NM_001278716.2(FBXL4):c.252A>G (p.Val84=)
|
rs756896976
|
|
NM_001278716.2(FBXL4):c.33G>A (p.Leu11=)
|
rs774699896
|
|
NM_001278716.2(FBXL4):c.35C>T (p.Thr12Ile)
|
rs771325698
|
|
NM_001278716.2(FBXL4):c.36C>G (p.Thr12=)
|
rs749635212
|
|
NM_001278716.2(FBXL4):c.396A>G (p.Glu132=)
|
rs775962308
|
|
NM_001278716.2(FBXL4):c.399A>G (p.Gln133=)
|
rs772615224
|
|
NM_001278716.2(FBXL4):c.3G>A (p.Met1Ile)
|
rs754532558
|
|
NM_001278716.2(FBXL4):c.416C>G (p.Ala139Gly)
|
rs770564931
|
|
NM_001278716.2(FBXL4):c.443C>T (p.Pro148Leu)
|
rs755008031
|
|
NM_001278716.2(FBXL4):c.454A>G (p.Ile152Val)
|
rs750476761
|
|
NM_001278716.2(FBXL4):c.46T>C (p.Tyr16His)
|
rs756533557
|
|
NM_001278716.2(FBXL4):c.470G>T (p.Cys157Phe)
|
rs754001134
|
|
NM_001278716.2(FBXL4):c.49A>G (p.Ile17Val)
|
rs754509338
|
|
NM_001278716.2(FBXL4):c.49A>T (p.Ile17Leu)
|
rs754509338
|
|
NM_001278716.2(FBXL4):c.506A>C (p.Glu169Ala)
|
rs775872113
|
|
NM_001278716.2(FBXL4):c.513-13C>A
|
rs200592647
|
|
NM_001278716.2(FBXL4):c.513-13C>G
|
rs200592647
|
|
NM_001278716.2(FBXL4):c.547G>C (p.Val183Leu)
|
rs774720010
|
|
NM_001278716.2(FBXL4):c.559C>A (p.Gln187Lys)
|
rs762351010
|
|
NM_001278716.2(FBXL4):c.570G>C (p.Gln190His)
|
rs776510763
|
|
NM_001278716.2(FBXL4):c.601C>T (p.Pro201Ser)
|
rs746878388
|
|
NM_001278716.2(FBXL4):c.634T>G (p.Ser212Ala)
|
rs772085661
|
|
NM_001278716.2(FBXL4):c.637C>T (p.Leu213Phe)
|
rs749286898
|
|
NM_001278716.2(FBXL4):c.643G>C (p.Glu215Gln)
|
rs371516190
|
|
NM_001278716.2(FBXL4):c.645A>C (p.Glu215Asp)
|
rs752917494
|
|
NM_001278716.2(FBXL4):c.645A>G (p.Glu215=)
|
rs752917494
|
|
NM_001278716.2(FBXL4):c.65G>C (p.Arg22Pro)
|
rs147696366
|
|
NM_001278716.2(FBXL4):c.666A>C (p.Ala222=)
|
rs781455701
|
|
NM_001278716.2(FBXL4):c.668T>G (p.Val223Gly)
|
rs200734083
|
|
NM_001278716.2(FBXL4):c.673C>T (p.Leu225=)
|
rs766767309
|
|
NM_001278716.2(FBXL4):c.702T>C (p.Leu234=)
|
rs1554221171
|
|
NM_001278716.2(FBXL4):c.725A>G (p.Asp242Gly)
|
rs775384414
|
|
NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu)
|
rs138206466
|
|
NM_001278716.2(FBXL4):c.747T>C (p.Asp249=)
|
rs138206466
|
|
NM_001278716.2(FBXL4):c.749C>T (p.Ala250Val)
|
rs557769001
|
|
NM_001278716.2(FBXL4):c.773G>T (p.Gly258Val)
|
rs761384727
|
|
NM_001278716.2(FBXL4):c.818A>G (p.Glu273Gly)
|
rs759388601
|
|
NM_001278716.2(FBXL4):c.822G>T (p.Gly274=)
|
rs774255399
|
|
NM_001278716.2(FBXL4):c.849A>C (p.Leu283=)
|
rs748199266
|
|
NM_001278716.2(FBXL4):c.872T>C (p.Ile291Thr)
|
rs376597046
|
|
NM_001278716.2(FBXL4):c.879T>C (p.Asn293=)
|
rs762902348
|
|
NM_001278716.2(FBXL4):c.87A>G (p.Gly29=)
|
rs749539741
|
|
NM_001278716.2(FBXL4):c.893C>T (p.Pro298Leu)
|
rs768785974
|
|
NM_001278716.2(FBXL4):c.913C>G (p.Gln305Glu)
|
rs571805954
|
|
NM_001278716.2(FBXL4):c.919T>C (p.Cys307Arg)
|
rs757780723
|
|
NM_001278716.2(FBXL4):c.933C>G (p.Ser311Arg)
|
rs778207313
|
|
NM_001278716.2(FBXL4):c.944G>T (p.Cys315Phe)
|
rs534670512
|
|
NM_001278716.2(FBXL4):c.946G>T (p.Asp316Tyr)
|
rs754658764
|
|
NM_001278716.2(FBXL4):c.949C>T (p.Pro317Ser)
|
rs751310167
|
|
NM_001278716.2(FBXL4):c.954G>A (p.Leu318=)
|
rs762811521
|
|
NM_001278716.2(FBXL4):c.961A>C (p.Ile321Leu)
|
rs765148228
|
|
NM_001278716.2(FBXL4):c.961A>G (p.Ile321Val)
|
rs765148228
|
|
NM_001278716.2(FBXL4):c.982T>C (p.Tyr328His)
|
rs772370168
|
|
NM_001278716.2(FBXL4):c.989C>G (p.Ala330Gly)
|
rs368886622
|
|
NM_001278716.2(FBXL4):c.989C>T (p.Ala330Val)
|
rs368886622
|
|
NM_002437.5(MPV17):c.284G>A (p.Gly95Asp)
|
rs1260392202
|
|
NM_002693.2(POLG):c.125_139dup
|
rs780010436
|
|
NM_002693.3(POLG):c.1186T>C (p.Cys396Arg)
|
rs1567191994
|
|
NM_002693.3(POLG):c.1223AGC[2] (p.Gln410del)
|
rs765446994
|
|
NM_002693.3(POLG):c.1452G>C (p.Trp484Cys)
|
rs774879097
|
|
NM_002693.3(POLG):c.1491G>C (p.Gln497His)
|
rs121918052
|
|
NM_002693.3(POLG):c.158A>C (p.Gln53Pro)
|
rs527965158
|
|
NM_002693.3(POLG):c.159A>T (p.Gln53His)
|
rs587781118
|
|
NM_002693.3(POLG):c.1639G>T (p.Ala547Ser)
|
rs779353857
|
|
NM_002693.3(POLG):c.1640C>A (p.Ala547Asp)
|
rs1567190832
|
|
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)
|
rs760784347
|
|
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu)
|
rs185645212
|
|
NM_002693.3(POLG):c.2426+10C>G
|
rs1567187739
|
|
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del)
|
rs1596353095
|
|
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)
|
rs144439703
|
|
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile)
|
rs1224799376
|
|
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile)
|
rs1567186644
|
|
NM_002693.3(POLG):c.2845_2847del (p.Phe949del)
|
rs1567186596
|
|
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln)
|
rs200309005
|
|
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr)
|
rs1567185808
|
|
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu)
|
rs756393846
|
|
NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile)
|
rs587780421
|
|
NM_002693.3(POLG):c.3298G>A (p.Val1100Met)
|
rs1567185242
|
|
NM_002693.3(POLG):c.3306G>C (p.Gln1102His)
|
rs1336274767
|
|
NM_002693.3(POLG):c.347C>G (p.Pro116Arg)
|
rs747828222
|
|
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg)
|
rs758720361
|
|
NM_002693.3(POLG):c.538C>T (p.Pro180Ser)
|
rs1567193954
|
|
NM_002693.3(POLG):c.611C>G (p.Ala204Gly)
|
rs1015074661
|
|
NM_002693.3(POLG):c.70C>T (p.Arg24Cys)
|
rs1196273210
|
|
NM_002693.3(POLG):c.729C>A (p.Asp243Glu)
|
rs757917194
|
|
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)
|
rs1555453950
|
|
NM_006567.5(FARS2):c.1145A>G (p.Tyr382Cys)
|
rs1472285290
|
|
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)
|
rs770597592
|
|
NM_006567.5(FARS2):c.28G>T (p.Ala10Ser)
|
rs753993545
|
|
NM_006567.5(FARS2):c.426C>A (p.Asp142Glu)
|
rs1561990280
|
|
NM_006567.5(FARS2):c.476A>C (p.His159Pro)
|
rs1561990390
|
|
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del)
|
rs1554169392
|
|
NM_006567.5(FARS2):c.748C>T (p.Leu250Phe)
|
rs1562015600
|
|
m.12201T>C
|
rs387906733
|
|
m.14279G>A
|
rs869025187
|
|
m.14498T>C
|
rs869025186
|
|
m.14849T>C
|
rs207460004
|
|
m.14985G>A
|
rs207459995
|
|
m.15498G>A
|
rs207460003
|
|
m.15950G>A
|
rs118203890
|
|
m.3250T>C
|
rs199474664
|
|
m.4290T>C
|
rs121434469
|
|
m.6264G>A
|
rs267606882
|
|