ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 797
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_002693.3(POLG):c.3643+180G>A rs3176238 0.48246
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_001278716.2(FBXL4):c.1569G>A (p.Gly523=) rs11537982 0.06744
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_002693.3(POLG):c.1713-32C>T rs3176190 0.06017
NM_002693.3(POLG):c.2266-76T>C rs3176203 0.05603
NM_001278716.2(FBXL4):c.465C>T (p.Leu155=) rs1011676 0.05403
NM_002693.3(POLG):c.660-46G>A rs2307430 0.04873
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002693.3(POLG):c.1251-43C>T rs2307444 0.02369
NM_001278716.2(FBXL4):c.105T>A (p.His35Gln) rs34316889 0.02361
NM_002693.3(POLG):c.1950-21C>T rs2307452 0.01987
NM_001278716.2(FBXL4):c.*3T>C rs115180578 0.01773
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_002693.3(POLG):c.3482+44G>A rs3176228 0.01216
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_002693.3(POLG):c.1713-31G>A rs3176191 0.00805
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_002693.3(POLG):c.3643+25A>G rs74842339 0.00779
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1024-38C>T rs138069091 0.00549
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041 0.00506
NM_001278716.2(FBXL4):c.429A>G (p.Leu143=) rs17058965 0.00480
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_002693.3(POLG):c.3644-14G>C rs3087375 0.00449
NM_002693.3(POLG):c.2735-15C>T rs41544115 0.00390
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_001278716.2(FBXL4):c.*5A>G rs142988015 0.00361
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_002693.3(POLG):c.852C>T (p.Ile284=) rs41540414 0.00345
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_002693.3(POLG):c.1950-43A>G rs74596434 0.00178
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_002693.3(POLG):c.1434-45C>T rs190262367 0.00163
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_002693.3(POLG):c.2426+27G>A rs72762657 0.00157
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_001278716.2(FBXL4):c.*9A>G rs185850413 0.00127
NM_002693.3(POLG):c.1434-27C>T rs139086616 0.00125
NM_002693.3(POLG):c.1949+20G>C rs371964664 0.00117
NM_002693.3(POLG):c.3104+24G>C rs201483942 0.00100
NM_002693.3(POLG):c.2982-30G>A rs76339822 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_001278716.2(FBXL4):c.1317+14A>G rs182139048 0.00082
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002693.3(POLG):c.1251-23del rs541579481 0.00077
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) rs143154211 0.00076
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_001278716.2(FBXL4):c.468T>C (p.Ala156=) rs114916821 0.00068
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln) rs147696366 0.00057
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_002693.3(POLG):c.2481-26C>T rs112776049 0.00055
NM_002693.3(POLG):c.3105-22C>T rs199809987 0.00049
NM_002693.3(POLG):c.660-29T>C rs374159057 0.00049
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_002693.3(POLG):c.3274-19G>A rs116925016 0.00043
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2071-14T>G rs150088708 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00032
NM_002693.3(POLG):c.1024-44C>T rs370557654 0.00029
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=) rs368029297 0.00027
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala) rs142853738 0.00024
NM_002693.3(POLG):c.2149C>T (p.Leu717=) rs779515404 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_001278716.2(FBXL4):c.131C>A (p.Thr44Asn) rs199983343 0.00022
NM_002693.3(POLG):c.3104+32G>A rs200269242 0.00022
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_002693.3(POLG):c.2599-40G>T rs55792683 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_001278716.2(FBXL4):c.351G>A (p.Thr117=) rs375173811 0.00018
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_001278716.2(FBXL4):c.1103+13C>T rs182076681 0.00016
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser) rs201858974 0.00016
NM_002693.3(POLG):c.1586-21T>G rs908825194 0.00016
NM_002693.3(POLG):c.186A>G (p.Leu62=) rs745310138 0.00016
NM_002693.3(POLG):c.3104+27G>A rs373628823 0.00016
NM_002693.3(POLG):c.3104+50C>T rs370764907 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_002693.3(POLG):c.2157+11C>T rs56411159 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.1171-24C>T rs369293614 0.00013
NM_002693.3(POLG):c.1250+37G>T rs372614123 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_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln) rs200372976 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_002693.3(POLG):c.3294T>C (p.Asn1098=) rs374224714 0.00011
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_002693.3(POLG):c.2599-24T>C rs368659678 0.00010
NM_002693.3(POLG):c.2982-50G>A rs752500882 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
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.2220C>T (p.Asn740=) rs141538857 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_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2157+15G>A rs766521182 0.00008
NM_002693.3(POLG):c.2481-44A>T rs370712401 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.3075G>A (p.Leu1025=) rs146404260 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.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
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.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.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.1761G>A (p.Pro587=) rs374805003 0.00006
NM_002693.3(POLG):c.1950-9T>C rs780378329 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) rs2307445 0.00006
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
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_001278716.2(FBXL4):c.61C>T (p.Arg21Cys) rs369518305 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_002693.3(POLG):c.1311C>T (p.Val437=) rs62640035 0.00005
NM_002693.3(POLG):c.150G>A (p.Gln50=) rs766501874 0.00005
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp) rs756952607 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.2508C>T (p.Leu836=) rs183811122 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_002693.3(POLG):c.753T>A (p.Thr251=) rs148099686 0.00005
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.1303C>T (p.Arg435Ter) rs201889294 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.91A>G (p.Met31Val) rs148934429 0.00004
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=) rs773041308 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.1638C>T (p.Arg546=) rs772461291 0.00004
NM_002693.3(POLG):c.1713-5C>T rs148494026 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.2266-48del rs766283304 0.00004
NM_002693.3(POLG):c.2880C>T (p.Pro960=) rs752500492 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.3222G>T (p.Val1074=) rs746773616 0.00004
NM_002693.3(POLG):c.3273+28A>C rs371425871 0.00004
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
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.1288C>T (p.Arg430Ter) rs758395213 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.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.1567G>A (p.Gly523Arg) rs759480340 0.00003
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile) rs1391578014 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.1434-32C>G rs954111058 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.1949+44C>A rs762378430 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr) rs1049107490 0.00003
NM_002693.3(POLG):c.2266-44G>T rs1335068171 0.00003
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 0.00003
NM_002693.3(POLG):c.2598+28T>A rs1020120703 0.00003
NM_002693.3(POLG):c.2814T>C (p.Thr938=) rs771822843 0.00003
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln) rs770236576 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3519G>A (p.Leu1173=) rs953889846 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_002693.3(POLG):c.3610A>T (p.Thr1204Ser) rs761103159 0.00003
NM_002693.3(POLG):c.60A>C (p.Pro20=) rs944054671 0.00003
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.1304G>A (p.Arg435Gln) rs754142863 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.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1585+18G>A rs1371422250 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.2019C>T (p.Ala673=) rs557179508 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.2830G>A (p.Glu944Lys) rs768653086 0.00002
NM_002693.3(POLG):c.2982-31C>T rs2307432 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.3104+8C>A rs754615624 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 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.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu) rs766196697 0.00002
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr) rs779072487 0.00002
NM_002693.3(POLG):c.516G>A (p.Ala172=) rs1028326668 0.00002
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.106A>T (p.Arg36Ter) rs1182326570 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.1156C>T (p.His386Tyr) rs751643380 0.00001
NM_001278716.2(FBXL4):c.1172C>G (p.Thr391Ser) rs750610341 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.1442T>C (p.Leu481Pro) rs772037717 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.1586C>A (p.Ala529Glu) rs1443104983 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.1790A>C (p.Gln597Pro) rs201989042 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.292C>T (p.Arg98Ter) rs1554222130 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.418G>A (p.Val140Ile) rs748902586 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 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.445G>A (p.Gly149Arg) rs1345325140 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.616C>T (p.Arg206Ter) rs964532159 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.858+5G>C rs1257765682 0.00001
NM_001278716.2(FBXL4):c.859-1G>T rs368965675 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.1120C>T (p.Arg374Ter) rs960142425 0.00001
NM_002693.3(POLG):c.1149G>A (p.Lys383=) rs767256165 0.00001
NM_002693.3(POLG):c.1170+9C>T rs373168754 0.00001
NM_002693.3(POLG):c.1251G>A (p.Arg417=) rs1567191509 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.1648C>G (p.Gln550Glu) rs1227630175 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln) rs746406535 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1887C>T (p.Asp629=) rs886051524 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.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.1949+14C>T rs754016118 0.00001
NM_002693.3(POLG):c.2038C>T (p.Leu680=) rs373066911 0.00001
NM_002693.3(POLG):c.2045C>G (p.Thr682Ser) rs1328436909 0.00001
NM_002693.3(POLG):c.2070+27T>C rs1259690556 0.00001
NM_002693.3(POLG):c.2071-48G>T rs1293230481 0.00001
NM_002693.3(POLG):c.2118G>A (p.Glu706=) rs748699275 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2157+10G>T rs751357356 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.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2426+17G>A rs572105844 0.00001
NM_002693.3(POLG):c.2427-16T>C rs769407407 0.00001
NM_002693.3(POLG):c.2427-20C>T rs1567187412 0.00001
NM_002693.3(POLG):c.2483A>G (p.His828Arg) rs533807211 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2563G>T (p.Val855Leu) rs771254207 0.00001
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) rs759128787 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) rs769210629 0.00001
NM_002693.3(POLG):c.2688G>A (p.Leu896=) rs769306875 0.00001
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr) rs935602068 0.00001
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) rs765916932 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 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.31G>A (p.Gly11Ser) rs764055826 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3228C>G (p.Gly1076=) rs777893046 0.00001
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter) rs767708989 0.00001
NM_002693.3(POLG):c.3258G>A (p.Ser1086=) rs763312940 0.00001
NM_002693.3(POLG):c.3273+6T>A rs886051522 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile) rs1278715599 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) rs765344513 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn) rs775517153 0.00001
NM_002693.3(POLG):c.384G>T (p.Pro128=) rs558958919 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.528C>T (p.Thr176=) rs750915606 0.00001
NM_002693.3(POLG):c.635C>T (p.Ala212Val) rs751130039 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.855+19A>G rs888039212 0.00001
NM_002693.3(POLG):c.855G>C (p.Gln285His) rs141367015 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
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.1067del (p.Gly356fs) rs1554219474
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.1210C>T (p.Gln404Ter) rs1187832552
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.1229C>T (p.Ser410Phe) rs1554218821
NM_001278716.2(FBXL4):c.1247C>T (p.Pro416Leu) rs749048612
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu) rs754142863
NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=) rs1554218789
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.1360C>T (p.Gln454Ter) rs750973870
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+3_1389+6del rs1554216735
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.1411G>A (p.Ala471Thr) rs1227524799
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.1540T>G (p.Trp514Gly) rs1411907961
NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del) rs878853112
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.1555C>T (p.Gln519Ter) rs398123059
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.1641_1642del (p.Cys547_Asp548delinsTer) rs765882664
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
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.1687C>T (p.Gln563Ter) rs1554215964
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
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.1703G>C (p.Gly568Ala) rs398123060
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.1750T>C (p.Cys584Arg) rs1554215804
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.1772A>G (p.Asp591Gly) 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.1836del (p.Val613fs) rs751656896
NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu) rs1554215766
NM_001278716.2(FBXL4):c.216C>T (p.Ser72=) rs769167772
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
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.273_277del (p.Phe91fs) rs766892502
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter) rs1554222122
NM_001278716.2(FBXL4):c.326del (p.Ser109fs) rs761215749
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.370C>T (p.Gln124Ter) rs761974928
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.415_416insTT (p.Ala139fs) rs767543583
NM_001278716.2(FBXL4):c.416C>G (p.Ala139Gly) rs770564931
NM_001278716.2(FBXL4):c.417_418insA (p.Val140fs) rs761902417
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.513-1G>A rs1554221258
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.614T>C (p.Ile205Thr) rs1350566881
NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs) rs886041625
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.661G>C (p.Asp221His) rs1554221191
NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val) rs1554221189
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.858+1G>T rs1394080480
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.903T>A (p.Cys301Ter) rs775768793
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_002437.4(MPV17):c.71-2_79delins4
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) rs1057524366
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.284G>A (p.Gly95Asp) rs1260392202
NM_002437.5(MPV17):c.293del (p.Pro98fs) rs1553383480
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) rs1553383467
NM_002437.5(MPV17):c.376-1G>A rs1423840146
NM_002437.5(MPV17):c.376-2A>C rs113055360
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.1023+10C>T rs777477062
NM_002693.3(POLG):c.1023+17G>C rs778750911
NM_002693.3(POLG):c.1024-24A>G rs1567192219
NM_002693.3(POLG):c.1056T>C (p.Ser352=) rs1567192184
NM_002693.3(POLG):c.1171-18C>G rs1567192015
NM_002693.3(POLG):c.1171-30A>G rs761504232
NM_002693.3(POLG):c.1171-37G>T rs1426619872
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.1250+12C>T rs985160740
NM_002693.3(POLG):c.1250+27_1250+28del rs776623760
NM_002693.3(POLG):c.1251-38G>C rs1567191551
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1289T>C (p.Met430Thr) rs1567191474
NM_002693.3(POLG):c.133_134insGGC (p.Gln44_Gln45insArg) rs1567194472
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1371G>C (p.Arg457=) rs1567191387
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro) rs1567191334
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.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.1562del (p.Pro521fs) rs1567191094
NM_002693.3(POLG):c.1585+22TAGGG[4] rs777442304
NM_002693.3(POLG):c.1586-33_1586-31del rs1567190938
NM_002693.3(POLG):c.158A>C (p.Gln53Pro) rs527965158
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
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.1674C>G (p.Leu558=) rs552085869
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly) rs139717885
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.1797A>T (p.Thr599=) rs775651351
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.3(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1950-16A>C rs1310096810
NM_002693.3(POLG):c.1950-32_1950-30del rs1567188748
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.3(POLG):c.2038del (p.Leu680fs) rs1567188632
NM_002693.3(POLG):c.2070+1G>A rs1567188588
NM_002693.3(POLG):c.2071-43C>T rs753372873
NM_002693.3(POLG):c.2071-4C>T rs1567188491
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.210G>T (p.Arg70=) rs751225754
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.3(POLG):c.2157+5_2157+6delinsAG rs1596354607
NM_002693.3(POLG):c.2158-17G>T rs1567188293
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu) rs185645212
NM_002693.3(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.3(POLG):c.2265+15A>G rs747993559
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2391_2393del (p.Met797del) rs1567187766
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2409C>T (p.Asn803=) rs1236942179
NM_002693.3(POLG):c.2426+10C>G rs1567187739
NM_002693.3(POLG):c.2426+1G>C rs1567187745
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.2480+1G>A rs1567187326
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.248T>C (p.Leu83Pro) rs1567194243
NM_002693.3(POLG):c.2526C>T (p.Pro842=) rs758903771
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs) rs1567187103
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala) rs775445970
NM_002693.3(POLG):c.2555G>A (p.Arg852His) rs1567187093
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) rs963553787
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg) rs1567187057
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile) rs1224799376
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser) rs1567186787
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.2674dup (p.Asp892fs) rs1283198587
NM_002693.3(POLG):c.2734+39_2734+40insAGGT rs2307433
NM_002693.3(POLG):c.2735-42A>G rs1258121070
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile) rs1567186644
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys) rs1567186614
NM_002693.3(POLG):c.2828G>A (p.Arg943His) rs1567186613
NM_002693.3(POLG):c.2845_2847del (p.Phe949del) rs1567186596
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn) rs1567186591
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2858G>A (p.Arg953His) rs1567186581
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2874G>T (p.Gly958=) rs1567186563
NM_002693.3(POLG):c.2896C>T (p.Leu966=) rs1187151579
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln) rs200309005
NM_002693.3(POLG):c.2982-16A>G rs1567185886
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr) rs1567185808
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter) rs1567185770
NM_002693.3(POLG):c.3104+64A>G rs1567185722
NM_002693.3(POLG):c.3105-19T>C rs755986798
NM_002693.3(POLG):c.3126G>A (p.Glu1042=) rs766485086
NM_002693.3(POLG):c.3149del (p.Lys1050fs) rs1567185603
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu) rs756393846
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro) rs140079523
NM_002693.3(POLG):c.3273+34G>A rs1567185382
NM_002693.3(POLG):c.3274-47G>A rs1567185324
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.3338T>C (p.Leu1113Pro) rs1567185178
NM_002693.3(POLG):c.3390C>T (p.Cys1130=) rs1567185105
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3447dup (p.Ala1150fs) rs1567185026
NM_002693.3(POLG):c.3456C>G (p.Ala1152=) rs1567185018
NM_002693.3(POLG):c.347C>G (p.Pro116Arg) rs747828222
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3483-14T>A rs587781119
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3483-41A>C rs2307436
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg) rs754844175
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg) rs758720361
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.3640C>G (p.Gln1214Glu) rs781256643
NM_002693.3(POLG):c.3673dup (p.Glu1225fs) rs1567183122
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.470T>C (p.Leu157Pro) rs1567194013
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.659+11G>T rs3087379
NM_002693.3(POLG):c.698dup (p.Tyr233Ter) rs1567192884
NM_002693.3(POLG):c.705G>A (p.Trp235Ter) rs1567192879
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.799G>C (p.Val267Leu) rs1567192788
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.82A>T (p.Ser28Cys) rs1567194544
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.855+16C>A rs1567192747
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.975C>G (p.Pro325=) rs551973680

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