ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 13

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ClinVar version:
Total variants: 410
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1569G>A (p.Gly523=) rs11537982 0.06744
NM_001278716.2(FBXL4):c.465C>T (p.Leu155=) rs1011676 0.05403
NM_001278716.2(FBXL4):c.105T>A (p.His35Gln) rs34316889 0.02361
NM_001278716.2(FBXL4):c.*3T>C rs115180578 0.01773
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_001278716.2(FBXL4):c.*5A>G rs142988015 0.00361
NM_001278716.2(FBXL4):c.*9A>G rs185850413 0.00127
NM_001278716.2(FBXL4):c.1317+14A>G rs182139048 0.00082
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) rs143154211 0.00076
NM_001278716.2(FBXL4):c.468T>C (p.Ala156=) rs114916821 0.00068
NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln) rs147696366 0.00057
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_001278716.2(FBXL4):c.1083C>T (p.Ile361=) rs368029297 0.00027
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_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_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_001278716.2(FBXL4):c.1103+13C>T rs182076681 0.00016
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser) rs201858974 0.00016
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
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_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln) rs200372976 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_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_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_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.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_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_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_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_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_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.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.539C>T (p.Pro180Leu) rs1015958378 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
GRCh37/hg19 6q16.1(chr6:99347158-99374801)
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.1104-2646A>G
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.1155C>G (p.Ser385Arg)
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.1241T>C (p.Leu414Pro)
NM_001278716.2(FBXL4):c.1247C>T (p.Pro416Leu) rs749048612
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro) rs542852839
NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu) rs754142863
NM_001278716.2(FBXL4):c.1317+137T>C
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.1323del (p.Ala442fs) rs1582367960
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.1350T>G (p.Cys450Trp) rs2128378917
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.1387A>G (p.Met463Val)
NM_001278716.2(FBXL4):c.1389+11G>A rs1770815162
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.1390-2172C>T
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.1400_1401del (p.Asp466_Tyr467insTer) rs1238870745
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.1440dup (p.Leu481fs) rs879255542
NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)
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.1538G>T (p.Gly513Val) rs1770631410
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly) rs1411907961
NM_001278716.2(FBXL4):c.1544G>A (p.Cys515Tyr)
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.1673G>A (p.Cys558Tyr) rs995995791
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.1709_1710dup (p.Met571fs)
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.1750del (p.Cys584fs) rs2128374874
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.1784G>C (p.Cys595Ser) rs2128374842
NM_001278716.2(FBXL4):c.1787del (p.Ser596fs) rs2128374840
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.197G>A (p.Gly66Glu)
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.299A>G (p.Tyr100Cys) rs2128405537
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.486T>A (p.Tyr162Ter) rs1562245046
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.622G>T (p.Glu208Ter) rs1582425406
NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs) rs1582425360
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.736dup (p.Ile246fs) rs2128400842
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.929T>C (p.Leu310Pro) rs2128393288
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

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