ClinVar Miner

List of variants studied for Mitochondrial trifunctional protein deficiency

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Minimum conflict level:
ClinVar version:
Total variants: 539
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.*136G>C rs1056471 0.88075
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389 0.17317
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000183.3(HADHB):c.1014-14A>G rs17528590 0.17198
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000183.3(HADHB):c.1149+4A>T rs2303893 0.08727
NM_000183.3(HADHB):c.*486G>A rs7601689 0.04939
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000183.3(HADHB):c.*196A>G rs7586822 0.03799
NM_000183.3(HADHB):c.*351C>G rs7575987 0.02538
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240 0.02064
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630 0.00662
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527 0.00660
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571 0.00660
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NC_000002.12:g.26244826T>C rs749979964 0.00249
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000183.3(HADHB):c.64+11T>C rs57709136 0.00141
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551 0.00086
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705 0.00065
NM_000183.3(HADHB):c.1224+5G>A rs559277360 0.00059
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000183.3(HADHB):c.*52A>G rs183649494 0.00056
NM_000183.3(HADHB):c.1119T>C (p.Ile373=) rs77943157 0.00052
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000183.3(HADHB):c.254+8A>G rs370597816 0.00038
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018 0.00036
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000183.3(HADHB):c.1023G>T (p.Met341Ile) rs141484936 0.00031
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) rs143683481 0.00031
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000183.3(HADHB):c.*43C>T rs192988436 0.00028
NM_000183.3(HADHB):c.640G>A (p.Val214Ile) rs149693931 0.00028
NM_000183.3(HADHB):c.171G>A (p.Val57=) rs201804764 0.00027
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000183.3(HADHB):c.64+15del rs771594408 0.00021
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00013
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000183.3(HADHB):c.1A>G (p.Met1Val) rs763333945 0.00010
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438 0.00008
NM_000183.3(HADHB):c.514C>T (p.Pro172Ser) rs367891116 0.00008
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000183.2(HADHB):c.-176G>T rs574318006 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000183.3(HADHB):c.845G>A (p.Arg282His) rs140355426 0.00006
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln) rs774054520 0.00005
NM_000183.3(HADHB):c.1389+4C>T rs192854755 0.00005
NM_000183.3(HADHB):c.1390-5T>C rs372429293 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) rs374840025 0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000183.3(HADHB):c.266A>G (p.His89Arg) rs373356931 0.00004
NM_000183.3(HADHB):c.426C>T (p.Asn142=) rs777313153 0.00004
NM_000183.3(HADHB):c.510T>C (p.Asp170=) rs374852324 0.00004
NM_000183.3(HADHB):c.64+15A>T rs1018820638 0.00004
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531 0.00003
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332 0.00003
NM_000183.3(HADHB):c.631-15T>C rs767590983 0.00003
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000183.3(HADHB):c.1089A>G (p.Leu363=) rs140869593 0.00002
NM_000183.3(HADHB):c.126G>A (p.Thr42=) rs1475892789 0.00002
NM_000183.3(HADHB):c.134C>T (p.Thr45Met) rs754537494 0.00002
NM_000183.3(HADHB):c.1389+8dup rs1484394551 0.00002
NM_000183.3(HADHB):c.210-1G>T rs200777054 0.00002
NM_000183.3(HADHB):c.210-9G>A rs538575997 0.00002
NM_000183.3(HADHB):c.353A>T (p.Glu118Val) rs761005966 0.00002
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro) rs773127211 0.00002
NM_000183.3(HADHB):c.574A>G (p.Met192Val) rs772405727 0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000183.3(HADHB):c.713G>A (p.Arg238Gln) rs369313023 0.00002
NM_000183.3(HADHB):c.822A>G (p.Thr274=) rs760136055 0.00002
NM_000183.3(HADHB):c.844C>T (p.Arg282Cys) rs374979465 0.00002
NM_000183.3(HADHB):c.965C>T (p.Ala322Val) rs758786432 0.00002
NM_000183.3(HADHB):c.97C>T (p.Arg33Ter) rs752264795 0.00002
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000183.2(HADHB):c.-202G>A rs886055865 0.00001
NM_000183.2(HADHB):c.-235delT rs886055864 0.00001
NM_000183.3(HADHB):c.-53C>T rs1187378058 0.00001
NM_000183.3(HADHB):c.1050A>G (p.Gln350=) rs753777514 0.00001
NM_000183.3(HADHB):c.1098A>T (p.Ala366=) rs748353295 0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755 0.00001
NM_000183.3(HADHB):c.1149+15A>G rs1053513949 0.00001
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp) rs1023807527 0.00001
NM_000183.3(HADHB):c.1188T>C (p.Asp396=) rs541350589 0.00001
NM_000183.3(HADHB):c.1315A>G (p.Met439Val) rs1392529342 0.00001
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) rs781574694 0.00001
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly) rs971767907 0.00001
NM_000183.3(HADHB):c.1390-2A>G rs1297095534 0.00001
NM_000183.3(HADHB):c.173A>G (p.Asp58Gly) rs746076418 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000183.3(HADHB):c.209+1G>A rs113112630 0.00001
NM_000183.3(HADHB):c.213T>C (p.Tyr71=) rs1255649817 0.00001
NM_000183.3(HADHB):c.230A>G (p.His77Arg) rs760290863 0.00001
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001
NM_000183.3(HADHB):c.255-1G>A rs112842641 0.00001
NM_000183.3(HADHB):c.255-2A>G rs1220650950 0.00001
NM_000183.3(HADHB):c.423C>T (p.Ala141=) rs374569092 0.00001
NM_000183.3(HADHB):c.443-10T>C rs371257973 0.00001
NM_000183.3(HADHB):c.443-11G>A rs777434443 0.00001
NM_000183.3(HADHB):c.493G>A (p.Val165Ile) rs766573917 0.00001
NM_000183.3(HADHB):c.503T>A (p.Met168Lys) rs1672656422 0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter) rs552292698 0.00001
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln) rs749861331 0.00001
NM_000183.3(HADHB):c.618C>T (p.Phe206=) rs757949243 0.00001
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu) rs758393205 0.00001
NM_000183.3(HADHB):c.693C>T (p.Ala231=) rs768034989 0.00001
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs) rs745646607 0.00001
NM_000183.3(HADHB):c.735A>G (p.Ala245=) rs1378842987 0.00001
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133 0.00001
NM_000183.3(HADHB):c.74C>T (p.Pro25Leu) rs1434038212 0.00001
NM_000183.3(HADHB):c.809C>T (p.Pro270Leu) rs767202789 0.00001
NM_000183.3(HADHB):c.811+11A>G rs763763725 0.00001
NM_000183.3(HADHB):c.872A>G (p.Lys291Arg) rs573709691 0.00001
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser) rs891954464 0.00001
NM_000183.3(HADHB):c.90C>G (p.Ser30=) rs757653389 0.00001
NM_000183.3(HADHB):c.919A>G (p.Asn307Asp) rs769558977 0.00001
NM_000183.3(HADHB):c.98G>A (p.Arg33Gln) rs372980146 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NC_000002.11:g.(?_26426911)_(26512821_?)del
NC_000002.11:g.(?_26477123)_(26486367_?)del
NC_000002.11:g.(?_26486228)_(26486367_?)del
NC_000002.11:g.(?_26486228)_(26781439_?)del
NC_000002.11:g.(?_26492801)_(26496638_?)del
NC_000002.11:g.(?_26505693)_(26508459_?)del
NC_000002.11:g.(?_26506965)_(26508459_?)del
NC_000002.11:g.(?_26507731)_(26508459_?)del
NC_000002.11:g.(?_26507731)_(26512821_?)del
NC_000002.11:g.(?_26512766)_(26512821_?)del
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) rs137852772
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) rs1669501514
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) rs1574624062
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000183.3(HADHB):c.*241T>G rs886055867
NM_000183.3(HADHB):c.*244T>G rs886055868
NM_000183.3(HADHB):c.*268G>A rs886055869
NM_000183.3(HADHB):c.*380A>G rs886055870
NM_000183.3(HADHB):c.*500G>A rs538337605
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.1009T>C (p.Leu337=)
NM_000183.3(HADHB):c.1013+18A>G
NM_000183.3(HADHB):c.1013+19C>G
NM_000183.3(HADHB):c.1013+19C>T
NM_000183.3(HADHB):c.1013+21_1013+25dup
NM_000183.3(HADHB):c.1013+2T>G
NM_000183.3(HADHB):c.1014-15dup
NM_000183.3(HADHB):c.1014-18C>G
NM_000183.3(HADHB):c.1014-2A>T
NM_000183.3(HADHB):c.1014-4C>G
NM_000183.3(HADHB):c.1014-4C>T
NM_000183.3(HADHB):c.1014-7T>C rs2147830061
NM_000183.3(HADHB):c.1026T>C (p.Tyr342=)
NM_000183.3(HADHB):c.1044A>C (p.Lys348Asn) rs1038882025
NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)
NM_000183.3(HADHB):c.1053A>G (p.Leu351=)
NM_000183.3(HADHB):c.1061+17A>G
NM_000183.3(HADHB):c.1061+3A>G
NM_000183.3(HADHB):c.1062-14T>C
NM_000183.3(HADHB):c.1062-16T>C
NM_000183.3(HADHB):c.1062-18_1062-15del
NM_000183.3(HADHB):c.1062-1G>T
NM_000183.3(HADHB):c.1062-9dup
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr) rs1370999216
NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)
NM_000183.3(HADHB):c.1071T>C (p.Tyr357=)
NM_000183.3(HADHB):c.109+4C>T rs769724590
NM_000183.3(HADHB):c.109+5A>G
NM_000183.3(HADHB):c.1098A>G (p.Ala366=)
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)
NM_000183.3(HADHB):c.110-1G>A
NM_000183.3(HADHB):c.110-2A>T
NM_000183.3(HADHB):c.1100del (p.Gly367fs)
NM_000183.3(HADHB):c.1110G>C (p.Met370Ile)
NM_000183.3(HADHB):c.1112del (p.Asn371fs)
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr) rs1558360702
NM_000183.3(HADHB):c.1128T>G (p.Phe376Leu) rs2147831395
NM_000183.3(HADHB):c.112G>T (p.Val38Phe)
NM_000183.3(HADHB):c.1137T>C (p.His379=)
NM_000183.3(HADHB):c.1137del (p.His379fs)
NM_000183.3(HADHB):c.1142C>T (p.Ala381Val) rs774703599
NM_000183.3(HADHB):c.1149+17A>T
NM_000183.3(HADHB):c.1149+19A>T
NM_000183.3(HADHB):c.1149+1G>T
NM_000183.3(HADHB):c.1149+2T>C
NM_000183.3(HADHB):c.1149+4A>G rs2303893
NM_000183.3(HADHB):c.1150-13T>C
NM_000183.3(HADHB):c.1150-18G>A
NM_000183.3(HADHB):c.1150-18G>T
NM_000183.3(HADHB):c.1150-19C>T
NM_000183.3(HADHB):c.1150-1G>C
NM_000183.3(HADHB):c.1150-1G>T
NM_000183.3(HADHB):c.1150-20T>G
NM_000183.3(HADHB):c.1150-2A>G rs2147832276
NM_000183.3(HADHB):c.1173A>G (p.Lys391=)
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1176C>A (p.Ala392=)
NM_000183.3(HADHB):c.1180G>T (p.Asp394Tyr)
NM_000183.3(HADHB):c.1186G>T (p.Asp396Tyr) rs2147832336
NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1211dup (p.Gly404_Arg405insTer) rs1553323072
NM_000183.3(HADHB):c.1212T>C (p.Gly404=)
NM_000183.3(HADHB):c.1221C>G (p.Thr407=)
NM_000183.3(HADHB):c.1224+10T>C
NM_000183.3(HADHB):c.1224+11A>G
NM_000183.3(HADHB):c.1224+16T>A
NM_000183.3(HADHB):c.1224+1G>A
NM_000183.3(HADHB):c.1224+9C>A
NM_000183.3(HADHB):c.1225-11G>T
NM_000183.3(HADHB):c.1225-15C>G
NM_000183.3(HADHB):c.1225-1G>A
NM_000183.3(HADHB):c.1225-6A>T
NM_000183.3(HADHB):c.1254T>C (p.Asn418=)
NM_000183.3(HADHB):c.1269T>C (p.Ser423=)
NM_000183.3(HADHB):c.1279G>A (p.Gly427Arg)
NM_000183.3(HADHB):c.1279G>T (p.Gly427Ter)
NM_000183.3(HADHB):c.1284C>T (p.His428=)
NM_000183.3(HADHB):c.1287A>G (p.Pro429=)
NM_000183.3(HADHB):c.1296C>T (p.Ala432=)
NM_000183.3(HADHB):c.1309T>C (p.Leu437=)
NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly)
NM_000183.3(HADHB):c.1321G>A (p.Ala441Thr)
NM_000183.3(HADHB):c.1334T>G (p.Leu445Ter)
NM_000183.3(HADHB):c.1341A>G (p.Lys447=)
NM_000183.3(HADHB):c.1350C>A (p.Gly450=)
NM_000183.3(HADHB):c.1353G>A (p.Gln451=)
NM_000183.3(HADHB):c.1357G>A (p.Gly453Ser)
NM_000183.3(HADHB):c.1359C>T (p.Gly453=)
NM_000183.3(HADHB):c.135G>T (p.Thr45=)
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.1368T>C (p.Ala456=)
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.1371G>T (p.Ala457=)
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000183.3(HADHB):c.1377A>C (p.Ala459=)
NM_000183.3(HADHB):c.1386G>A (p.Gly462=)
NM_000183.3(HADHB):c.1387C>G (p.Gln463Glu)
NM_000183.3(HADHB):c.1389+10A>C
NM_000183.3(HADHB):c.1389+10A>G
NM_000183.3(HADHB):c.1389+11G>A
NM_000183.3(HADHB):c.1389+1G>A
NM_000183.3(HADHB):c.1389+5G>A
NM_000183.3(HADHB):c.138A>G (p.Leu46=)
NM_000183.3(HADHB):c.1390-4A>G
NM_000183.3(HADHB):c.1399A>G (p.Met467Val)
NM_000183.3(HADHB):c.1405G>A (p.Val469Met) rs1673196031
NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala) rs2147837732
NM_000183.3(HADHB):c.1416T>C (p.Tyr472=)
NM_000183.3(HADHB):c.1422A>G (p.Lys474=)
NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)
NM_000183.3(HADHB):c.162T>A (p.Val54=)
NM_000183.3(HADHB):c.162T>C (p.Val54=)
NM_000183.3(HADHB):c.166G>T (p.Val56Leu)
NM_000183.3(HADHB):c.168G>T (p.Val56=)
NM_000183.3(HADHB):c.183C>T (p.Arg61=)
NM_000183.3(HADHB):c.189A>T (p.Pro63=)
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.204C>T (p.Gly68=)
NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)
NM_000183.3(HADHB):c.209+10A>G
NM_000183.3(HADHB):c.209+10A>T
NM_000183.3(HADHB):c.209+12A>G
NM_000183.3(HADHB):c.209+13T>C
NM_000183.3(HADHB):c.209+14G>C
NM_000183.3(HADHB):c.209+14_209+15del
NM_000183.3(HADHB):c.209+16T>C
NM_000183.3(HADHB):c.209+18A>G
NM_000183.3(HADHB):c.209+1G>C
NM_000183.3(HADHB):c.209+20A>G
NM_000183.3(HADHB):c.209+7A>G rs773618132
NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)
NM_000183.3(HADHB):c.210-10C>T
NM_000183.3(HADHB):c.210-17T>A
NM_000183.3(HADHB):c.210-18C>G
NM_000183.3(HADHB):c.210-18C>T
NM_000183.3(HADHB):c.210-4C>G
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.214A>G (p.Lys72Glu)
NM_000183.3(HADHB):c.219C>T (p.Asp73=)
NM_000183.3(HADHB):c.21C>G (p.Pro7=)
NM_000183.3(HADHB):c.21C>T (p.Pro7=)
NM_000183.3(HADHB):c.221T>G (p.Leu74Arg)
NM_000183.3(HADHB):c.223A>T (p.Met75Leu)
NM_000183.3(HADHB):c.254+15T>C
NM_000183.3(HADHB):c.254+17T>G
NM_000183.3(HADHB):c.254C>T (p.Thr85Met)
NM_000183.3(HADHB):c.255-13T>C
NM_000183.3(HADHB):c.255-14A>G
NM_000183.3(HADHB):c.255-20C>T
NM_000183.3(HADHB):c.255-2del
NM_000183.3(HADHB):c.255-7C>T
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser) rs1171889657
NM_000183.3(HADHB):c.279C>T (p.Val93=)
NM_000183.3(HADHB):c.288A>G (p.Glu96=)
NM_000183.3(HADHB):c.299A>G (p.Tyr100Cys)
NM_000183.3(HADHB):c.303C>A (p.Ile101=)
NM_000183.3(HADHB):c.306C>A (p.Ile102=)
NM_000183.3(HADHB):c.315A>G (p.Thr105=)
NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)
NM_000183.3(HADHB):c.330G>A (p.Val110=)
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
NM_000183.3(HADHB):c.343dup (p.Val115fs)
NM_000183.3(HADHB):c.346G>T (p.Ala116Ser) rs766228457
NM_000183.3(HADHB):c.354+17T>G
NM_000183.3(HADHB):c.354+1G>T
NM_000183.3(HADHB):c.354+20T>A
NM_000183.3(HADHB):c.354+2T>C
NM_000183.3(HADHB):c.355-11A>G
NM_000183.3(HADHB):c.355-12T>C
NM_000183.3(HADHB):c.355-13_355-12del
NM_000183.3(HADHB):c.355-15C>T
NM_000183.3(HADHB):c.355-17C>G
NM_000183.3(HADHB):c.355-20A>C
NM_000183.3(HADHB):c.360C>T (p.Ala120=) rs2147823124
NM_000183.3(HADHB):c.388C>T (p.Pro130Ser)
NM_000183.3(HADHB):c.389C>T (p.Pro130Leu)
NM_000183.3(HADHB):c.392C>T (p.Ala131Val) rs1672558537
NM_000183.3(HADHB):c.399T>C (p.Thr133=)
NM_000183.3(HADHB):c.405C>T (p.Thr135=)
NM_000183.3(HADHB):c.407T>C (p.Met136Thr) rs750956714
NM_000183.3(HADHB):c.410dup (p.Cys138fs)
NM_000183.3(HADHB):c.417C>T (p.Ile139=)
NM_000183.3(HADHB):c.417del (p.Ser140fs)
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu) rs200718690
NM_000183.3(HADHB):c.431C>T (p.Ala144Val) rs1672561193
NM_000183.3(HADHB):c.432C>G (p.Ala144=)
NM_000183.3(HADHB):c.442+12T>C
NM_000183.3(HADHB):c.442+15A>G
NM_000183.3(HADHB):c.442+15A>T
NM_000183.3(HADHB):c.442+18C>T
NM_000183.3(HADHB):c.442+663A>G
NM_000183.3(HADHB):c.443-10T>A
NM_000183.3(HADHB):c.443-13del
NM_000183.3(HADHB):c.443-20G>A
NM_000183.3(HADHB):c.443-4G>A
NM_000183.3(HADHB):c.443-4G>C
NM_000183.3(HADHB):c.451T>C (p.Leu151=)
NM_000183.3(HADHB):c.466C>T (p.Gln156Ter)
NM_000183.3(HADHB):c.474T>C (p.Asp158=)
NM_000183.3(HADHB):c.480C>T (p.Ile160=)
NM_000183.3(HADHB):c.481G>A (p.Val161Met)
NM_000183.3(HADHB):c.486A>C (p.Ala162=)
NM_000183.3(HADHB):c.489T>C (p.Gly163=)
NM_000183.3(HADHB):c.490G>A (p.Gly164Ser)
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp) rs1558356679
NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)
NM_000183.3(HADHB):c.507C>G (p.Ser169=)
NM_000183.3(HADHB):c.507C>T (p.Ser169=)
NM_000183.3(HADHB):c.508G>A (p.Asp170Asn)
NM_000183.3(HADHB):c.50G>A (p.Trp17Ter)
NM_000183.3(HADHB):c.520C>T (p.Arg174Cys)
NM_000183.3(HADHB):c.544C>T (p.Leu182=)
NM_000183.3(HADHB):c.54C>T (p.Ala18=)
NM_000183.3(HADHB):c.556C>G (p.Leu186Val)
NM_000183.3(HADHB):c.564G>A (p.Lys188=)
NM_000183.3(HADHB):c.568A>T (p.Lys190Ter)
NM_000183.3(HADHB):c.57C>T (p.Leu19=)
NM_000183.3(HADHB):c.588G>A (p.Leu196=)
NM_000183.3(HADHB):c.590_591delinsAA (p.Ser197Ter)
NM_000183.3(HADHB):c.597C>T (p.Ile199=)
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
NM_000183.3(HADHB):c.609A>C (p.Arg203=)
NM_000183.3(HADHB):c.615_616insCTCTAAT (p.Phe206delinsLeuTer)
NM_000183.3(HADHB):c.630+10G>A
NM_000183.3(HADHB):c.630+16G>A
NM_000183.3(HADHB):c.630+19G>A
NM_000183.3(HADHB):c.630+2_630+6del
NM_000183.3(HADHB):c.631-11T>C
NM_000183.3(HADHB):c.631-16A>C
NM_000183.3(HADHB):c.631-16A>G
NM_000183.3(HADHB):c.631-16A>T
NM_000183.3(HADHB):c.631-17G>A
NM_000183.3(HADHB):c.631-17G>T
NM_000183.3(HADHB):c.631-2A>C rs1574663316
NM_000183.3(HADHB):c.631-6T>C
NM_000183.3(HADHB):c.631-9C>T
NM_000183.3(HADHB):c.632T>A (p.Leu211His) rs1446857112
NM_000183.3(HADHB):c.637_638delinsTA (p.Ala213Ter)
NM_000183.3(HADHB):c.639G>A (p.Ala213=)
NM_000183.3(HADHB):c.64+10T>C
NM_000183.3(HADHB):c.64+13T>C
NM_000183.3(HADHB):c.64+22dup
NM_000183.3(HADHB):c.64+7TTA[2]
NM_000183.3(HADHB):c.646G>T (p.Glu216Ter) rs2147825407
NM_000183.3(HADHB):c.648G>A (p.Glu216=)
NM_000183.3(HADHB):c.65-15T>A
NM_000183.3(HADHB):c.65-19A>G
NM_000183.3(HADHB):c.65-8T>C
NM_000183.3(HADHB):c.65-9G>A
NM_000183.3(HADHB):c.651C>T (p.Phe217=)
NM_000183.3(HADHB):c.652T>C (p.Ser218Pro)
NM_000183.3(HADHB):c.657C>T (p.Thr219=)
NM_000183.3(HADHB):c.658A>G (p.Ser220Gly)
NM_000183.3(HADHB):c.65C>G (p.Ser22Cys) rs1671530038
NM_000183.3(HADHB):c.666C>T (p.Thr222=)
NM_000183.3(HADHB):c.672C>G (p.Gly224=)
NM_000183.3(HADHB):c.672C>T (p.Gly224=)
NM_000183.3(HADHB):c.678T>A (p.Ser226=)
NM_000183.3(HADHB):c.679G>A (p.Ala227Thr)
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382
NM_000183.3(HADHB):c.693del (p.Ala232fs) rs2147825515
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000183.3(HADHB):c.694G>T (p.Ala232Ser) rs987203346
NM_000183.3(HADHB):c.696T>C (p.Ala232=)
NM_000183.3(HADHB):c.699C>T (p.Ala233=)
NM_000183.3(HADHB):c.710C>G (p.Ser237Cys)
NM_000183.3(HADHB):c.714G>A (p.Arg238=)
NM_000183.3(HADHB):c.716T>C (p.Leu239Pro)
NM_000183.3(HADHB):c.736C>T (p.Leu246=)
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
NM_000183.3(HADHB):c.741C>T (p.Arg247=)
NM_000183.3(HADHB):c.747C>T (p.His249=)
NM_000183.3(HADHB):c.747_748del (p.His249fs)
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr) rs770044899
NM_000183.3(HADHB):c.756C>T (p.Ala252=)
NM_000183.3(HADHB):c.762G>A (p.Lys254=)
NM_000183.3(HADHB):c.807A>C (p.Val269=)
NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)
NM_000183.3(HADHB):c.811+15T>A
NM_000183.3(HADHB):c.811+1G>A
NM_000183.3(HADHB):c.811+2T>G
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.812-11T>G
NM_000183.3(HADHB):c.812-14C>G
NM_000183.3(HADHB):c.812-14C>T
NM_000183.3(HADHB):c.812-16T>A
NM_000183.3(HADHB):c.812-2A>G
NM_000183.3(HADHB):c.812-5A>C rs72851534
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.812-6dup
NM_000183.3(HADHB):c.820dup (p.Thr274fs)
NM_000183.3(HADHB):c.828C>G (p.Thr276=)
NM_000183.3(HADHB):c.832G>C (p.Asp278His) rs982733832
NM_000183.3(HADHB):c.863A>G (p.Gln288Arg)
NM_000183.3(HADHB):c.87C>T (p.Ser29=)
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg) rs1558357879
NM_000183.3(HADHB):c.882dup (p.Ala295fs)
NM_000183.3(HADHB):c.894G>A (p.Lys298=)
NM_000183.3(HADHB):c.897C>G (p.Pro299=)
NM_000183.3(HADHB):c.897C>T (p.Pro299=)
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464
NM_000183.3(HADHB):c.90C>T (p.Ser30=)
NM_000183.3(HADHB):c.915T>G (p.Ala305=)
NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)
NM_000183.3(HADHB):c.923C>A (p.Ser308Tyr)
NM_000183.3(HADHB):c.924T>G (p.Ser308=)
NM_000183.3(HADHB):c.930C>A (p.Phe310Leu)
NM_000183.3(HADHB):c.930C>T (p.Phe310=)
NM_000183.3(HADHB):c.933+16A>G
NM_000183.3(HADHB):c.933+20G>A
NM_000183.3(HADHB):c.933+6del
NM_000183.3(HADHB):c.933+8T>C
NM_000183.3(HADHB):c.934-10A>G
NM_000183.3(HADHB):c.934-13G>A
NM_000183.3(HADHB):c.934-13G>C
NM_000183.3(HADHB):c.934-16C>T
NM_000183.3(HADHB):c.936T>G (p.Thr312=)
NM_000183.3(HADHB):c.944C>T (p.Ala315Val)
NM_000183.3(HADHB):c.945A>G (p.Ala315=)
NM_000183.3(HADHB):c.948T>A (p.Ser316=)
NM_000183.3(HADHB):c.951A>G (p.Ala317=)
NM_000183.3(HADHB):c.953T>G (p.Met318Arg) rs2147829865
NM_000183.3(HADHB):c.962del (p.Met321fs)
NM_000183.3(HADHB):c.965C>A (p.Ala322Glu)
NM_000183.3(HADHB):c.979C>T (p.Leu327=)
NM_000183.3(HADHB):c.982G>A (p.Ala328Thr)
NM_000183.3(HADHB):c.989G>A (p.Gly330Asp) rs1349682003
NM_000183.3(HADHB):c.989del (p.Gly330fs) rs2147829909
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu) rs777680722
NM_000183.3(HADHB):c.999G>A (p.Pro333=)

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