ClinVar Miner

List of variants in gene IVD studied for Isovaleryl-CoA dehydrogenase deficiency

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Gene type:
ClinVar version:
Total variants: 718
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96362
NM_002225.5(IVD):c.688-85A>G rs2289330 0.65782
NM_002225.5(IVD):c.234+14T>C rs2289331 0.63320
NM_002225.5(IVD):c.1065+41A>G rs11070270 0.61721
NM_002225.5(IVD):c.457-120C>T rs8034416 0.61186
NM_002225.5(IVD):c.*2275T>C rs11790 0.59170
NM_002225.5(IVD):c.*1471G>A rs4923865 0.56828
NM_002225.5(IVD):c.*1577C>G rs11630850 0.47386
NM_002225.5(IVD):c.*808C>G rs2075625 0.45103
NM_002225.5(IVD):c.*2844T>C rs7207 0.45094
NM_002225.5(IVD):c.*1610C>T rs11630878 0.44933
NM_002225.5(IVD):c.688-31T>C rs2289329 0.37468
NM_002225.5(IVD):c.*261G>A rs2075624 0.23369
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11573
NM_002225.5(IVD):c.*2912G>A rs11557072 0.08705
NM_002225.5(IVD):c.*447C>G rs79191320 0.02689
NM_002225.5(IVD):c.*596G>A rs115034694 0.02523
NM_002225.5(IVD):c.*195C>T rs77680513 0.02520
NM_002225.5(IVD):c.1066-5C>T rs115077254 0.02075
NM_002225.5(IVD):c.*14C>T rs8040294 0.02023
NM_002225.5(IVD):c.*1208G>A rs7165233 0.01375
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01341
NM_002225.5(IVD):c.235-18G>A rs78272986 0.01081
NM_002225.5(IVD):c.-48G>A rs114259808 0.01080
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00876
NM_002225.3(IVD):c.-79C>G rs574064968 0.00526
NM_002225.5(IVD):c.*2630G>A rs28654574 0.00491
NM_002225.5(IVD):c.551-18C>T rs142064071 0.00352
NM_002225.5(IVD):c.*2850A>G rs147367220 0.00311
NM_002225.5(IVD):c.235-19T>C rs144063157 0.00167
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323 0.00157
NM_002225.5(IVD):c.*131G>A rs190115786 0.00130
NM_002225.5(IVD):c.*1240T>A rs146819701 0.00099
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_002225.5(IVD):c.*1376G>A rs536344215 0.00082
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686 0.00078
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_002225.5(IVD):c.*2235G>A rs189359145 0.00065
NM_002225.5(IVD):c.*290dup rs529793013 0.00065
NM_002225.5(IVD):c.*2070C>T rs187887699 0.00062
NM_002225.5(IVD):c.*1005T>C rs560096869 0.00033
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229 0.00032
NM_002225.5(IVD):c.*287C>T rs565064447 0.00031
NM_002225.5(IVD):c.961-6G>A rs199783007 0.00029
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134 0.00026
NM_002225.5(IVD):c.234+16C>T rs750473075 0.00025
NM_002225.5(IVD):c.234+9G>A rs369931477 0.00025
NM_002225.5(IVD):c.597C>T (p.Gly199=) rs754418427 0.00020
NM_002225.5(IVD):c.*805G>A rs183425220 0.00019
NM_002225.5(IVD):c.38C>T (p.Ala13Val) rs189587579 0.00018
NM_002225.5(IVD):c.*2001G>A rs185013442 0.00017
NM_002225.5(IVD):c.265G>A (p.Val89Ile) rs768581364 0.00017
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063 0.00017
NM_002225.5(IVD):c.*1172C>T rs532691940 0.00015
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234 0.00015
NM_002225.5(IVD):c.*1313C>G rs550652153 0.00014
NM_002225.5(IVD):c.*1839C>G rs186670312 0.00014
NM_002225.5(IVD):c.*566A>T rs549510775 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002225.5(IVD):c.879-5G>A rs750569823 0.00013
NM_002225.5(IVD):c.*2494C>T rs781683880 0.00011
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049 0.00011
NM_002225.5(IVD):c.*2205C>T rs185128282 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002225.5(IVD):c.*112G>T rs558721558 0.00009
NM_002225.5(IVD):c.*123G>A rs536728525 0.00009
NM_002225.5(IVD):c.*2125A>C rs1048450160 0.00009
NM_002225.5(IVD):c.1139-9T>C rs373295135 0.00009
NM_002225.5(IVD):c.492G>A (p.Met164Ile) rs748713834 0.00008
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986 0.00007
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078 0.00007
NM_002225.5(IVD):c.234+13G>A rs762088213 0.00006
NM_002225.5(IVD):c.286+8T>C rs769702849 0.00006
NM_002225.5(IVD):c.48G>C (p.Arg16Ser) rs141376305 0.00006
NM_002225.5(IVD):c.490A>G (p.Met164Val) rs574434706 0.00006
NM_002225.5(IVD):c.784+13G>A rs369694967 0.00006
NM_002225.5(IVD):c.*1884G>A rs1325854341 0.00005
NM_002225.5(IVD):c.111T>C (p.Asp37=) rs887220079 0.00005
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459 0.00005
NM_002225.5(IVD):c.784+20G>A rs375795386 0.00005
NM_002225.5(IVD):c.816T>C (p.Gly272=) rs753508865 0.00005
NM_002225.5(IVD):c.*611T>G rs886051130 0.00004
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528 0.00004
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496 0.00004
NM_002225.5(IVD):c.1041C>T (p.Cys347=) rs371770434 0.00004
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp) rs769261274 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_002225.5(IVD):c.52C>T (p.Arg18Trp) rs375138989 0.00004
NM_002225.3(IVD):c.-237G>C rs749128466 0.00003
NM_002225.5(IVD):c.*1636G>A rs560135738 0.00003
NM_002225.5(IVD):c.*2559G>A rs532233403 0.00003
NM_002225.5(IVD):c.*699G>A rs1039225701 0.00003
NM_002225.5(IVD):c.1065+20G>A rs375899713 0.00003
NM_002225.5(IVD):c.1066-10C>T rs774472099 0.00003
NM_002225.5(IVD):c.1139-8G>C rs755640305 0.00003
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) rs398123681 0.00003
NM_002225.5(IVD):c.235-20C>T rs770075053 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002225.5(IVD):c.334A>T (p.Met112Leu) rs772021923 0.00003
NM_002225.5(IVD):c.379G>A (p.Gly127Ser) rs754570116 0.00003
NM_002225.5(IVD):c.576C>T (p.Asn192=) rs756184085 0.00003
NM_002225.5(IVD):c.612C>T (p.Val204=) rs951022339 0.00003
NM_002225.5(IVD):c.785-19C>T rs768549812 0.00003
NM_002225.5(IVD):c.785-9T>C rs374999241 0.00003
NM_002225.5(IVD):c.841G>A (p.Asp281Asn) rs369148941 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002225.5(IVD):c.873T>C (p.Pro291=) rs537402391 0.00003
NM_002225.5(IVD):c.895C>G (p.Leu299Val) rs149247895 0.00003
NM_002225.5(IVD):c.960+8G>A rs531429598 0.00003
NM_002225.5(IVD):c.*338G>A rs879231133 0.00002
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.1066-4G>A rs374193700 0.00002
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00002
NM_002225.5(IVD):c.1138+13C>T rs770658726 0.00002
NM_002225.5(IVD):c.1138+9T>G rs749171166 0.00002
NM_002225.5(IVD):c.1139-16C>T rs758684735 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002225.5(IVD):c.219G>A (p.Glu73=) rs748950739 0.00002
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252 0.00002
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004 0.00002
NM_002225.5(IVD):c.372C>T (p.Leu124=) rs964820890 0.00002
NM_002225.5(IVD):c.456+12G>A rs759072784 0.00002
NM_002225.5(IVD):c.483C>T (p.Ala161=) rs751760095 0.00002
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094 0.00002
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.634G>A (p.Asp212Asn) rs1011144878 0.00002
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574 0.00002
NM_002225.5(IVD):c.897G>A (p.Leu299=) rs751049911 0.00002
NM_002225.5(IVD):c.9T>C (p.Thr3=) rs370886046 0.00002
NM_002225.3(IVD):c.-315C>G rs886051126 0.00001
NM_002225.5(IVD):c.*1090A>G rs1257277262 0.00001
NM_002225.5(IVD):c.*1117G>A rs886051132 0.00001
NM_002225.5(IVD):c.*196G>A rs1417892978 0.00001
NM_002225.5(IVD):c.*2005G>A rs886051135 0.00001
NM_002225.5(IVD):c.*204T>G rs886051127 0.00001
NM_002225.5(IVD):c.*2302G>A rs886051136 0.00001
NM_002225.5(IVD):c.*2883T>A rs181699798 0.00001
NM_002225.5(IVD):c.*652C>T rs761306144 0.00001
NM_002225.5(IVD):c.*798A>G rs1278287842 0.00001
NM_002225.5(IVD):c.*809G>A rs886051131 0.00001
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445 0.00001
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 0.00001
NM_002225.5(IVD):c.1014G>A (p.Gln338=) rs1891648588 0.00001
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser) rs766453485 0.00001
NM_002225.5(IVD):c.1026T>C (p.Asn342=) rs1401482066 0.00001
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr) rs1355297002 0.00001
NM_002225.5(IVD):c.1044T>C (p.Asp348=) rs2141360469 0.00001
NM_002225.5(IVD):c.1053T>C (p.His351=) rs763091729 0.00001
NM_002225.5(IVD):c.1059T>C (p.Thr353=) rs2141360637 0.00001
NM_002225.5(IVD):c.1065+11G>C rs369093691 0.00001
NM_002225.5(IVD):c.1065+16A>C rs775191878 0.00001
NM_002225.5(IVD):c.1065+19C>T rs372992111 0.00001
NM_002225.5(IVD):c.1080G>T (p.Val360=) rs754375800 0.00001
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe) rs1282267401 0.00001
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter) rs368705240 0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862 0.00001
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser) rs544110604 0.00001
NM_002225.5(IVD):c.1138+1G>A rs1193235415 0.00001
NM_002225.5(IVD):c.1139-12C>T rs1447931337 0.00001
NM_002225.5(IVD):c.1139-18C>T rs750856478 0.00001
NM_002225.5(IVD):c.1139-19G>T rs2542782386 0.00001
NM_002225.5(IVD):c.1139-3C>G rs367891946 0.00001
NM_002225.5(IVD):c.1146T>C (p.Asn382=) rs1419468231 0.00001
NM_002225.5(IVD):c.1155C>A (p.Ile385=) rs2542782917 0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1185A>G (p.Arg395=) rs375709475 0.00001
NM_002225.5(IVD):c.1188T>C (p.Asp396=) rs1188507536 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.1206del (p.Ile402fs) rs1595797766 0.00001
NM_002225.5(IVD):c.120T>C (p.Asn40=) rs1890353155 0.00001
NM_002225.5(IVD):c.1215G>A (p.Gly405=) rs752374036 0.00001
NM_002225.5(IVD):c.1221C>T (p.Ser407=) rs928740639 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 0.00001
NM_002225.5(IVD):c.123G>C (p.Gly41=) rs139179135 0.00001
NM_002225.5(IVD):c.124C>G (p.Leu42Val) rs777674887 0.00001
NM_002225.5(IVD):c.129C>A (p.Ser43Arg) rs918899977 0.00001
NM_002225.5(IVD):c.145-5A>G rs746358275 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.181C>T (p.Leu61=) rs767318709 0.00001
NM_002225.5(IVD):c.195C>T (p.Ala65=) rs764288165 0.00001
NM_002225.5(IVD):c.202A>G (p.Ile68Val) rs758926864 0.00001
NM_002225.5(IVD):c.225G>A (p.Lys75=) rs1018215813 0.00001
NM_002225.5(IVD):c.227A>G (p.Asn76Ser) rs1398705262 0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516 0.00001
NM_002225.5(IVD):c.235-15C>T rs370566804 0.00001
NM_002225.5(IVD):c.235-8G>A rs1035492488 0.00001
NM_002225.5(IVD):c.252G>A (p.Leu84=) rs756466515 0.00001
NM_002225.5(IVD):c.25G>T (p.Gly9Trp) rs1307123127 0.00001
NM_002225.5(IVD):c.263G>A (p.Gly88Asp) rs779579351 0.00001
NM_002225.5(IVD):c.27G>T (p.Gly9=) rs760413553 0.00001
NM_002225.5(IVD):c.286+2T>C rs748026507 0.00001
NM_002225.5(IVD):c.286+5G>T rs878909737 0.00001
NM_002225.5(IVD):c.297C>T (p.Gly99=) rs377129112 0.00001
NM_002225.5(IVD):c.298G>A (p.Gly100Ser) rs756016473 0.00001
NM_002225.5(IVD):c.307C>G (p.Leu103Val) rs1465206137 0.00001
NM_002225.5(IVD):c.330G>A (p.Leu110=) rs746017260 0.00001
NM_002225.5(IVD):c.34G>A (p.Val12Met) rs763769374 0.00001
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174 0.00001
NM_002225.5(IVD):c.387C>T (p.His129=) rs373073337 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.420T>C (p.Asn140=) rs1890984701 0.00001
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950 0.00001
NM_002225.5(IVD):c.453G>A (p.Pro151=) rs535261722 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117 0.00001
NM_002225.5(IVD):c.457-2A>G rs771914739 0.00001
NM_002225.5(IVD):c.457-9T>C rs1418302146 0.00001
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461 0.00001
NM_002225.5(IVD):c.474C>T (p.Tyr158=) rs1033930341 0.00001
NM_002225.5(IVD):c.477C>T (p.Ile159=) rs758187120 0.00001
NM_002225.5(IVD):c.486G>A (p.Leu162=) rs755094829 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.506_507insT (p.Gly170fs) rs1462096457 0.00001
NM_002225.5(IVD):c.522C>G (p.Val174=) rs962667792 0.00001
NM_002225.5(IVD):c.526A>G (p.Met176Val) rs1241965322 0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val) rs559732306 0.00001
NM_002225.5(IVD):c.57G>A (p.Pro19=) rs1277276427 0.00001
NM_002225.5(IVD):c.609C>T (p.Asp203=) rs563452741 0.00001
NM_002225.5(IVD):c.633A>C (p.Thr211=) rs769221723 0.00001
NM_002225.5(IVD):c.666C>T (p.Ile222=) rs772662373 0.00001
NM_002225.5(IVD):c.675C>T (p.Phe225=) rs749242305 0.00001
NM_002225.5(IVD):c.688G>T (p.Gly230Cys) rs778857245 0.00001
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552 0.00001
NM_002225.5(IVD):c.708C>G (p.Thr236=) rs535957881 0.00001
NM_002225.5(IVD):c.710C>T (p.Ser237Phe) rs1891244554 0.00001
NM_002225.5(IVD):c.726G>C (p.Lys242Asn) rs794727857 0.00001
NM_002225.5(IVD):c.759A>T (p.Leu253=) rs1237759561 0.00001
NM_002225.5(IVD):c.784+12C>T rs572858305 0.00001
NM_002225.5(IVD):c.784+15G>C rs1431543423 0.00001
NM_002225.5(IVD):c.784+19C>T rs753453660 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002225.5(IVD):c.784+9C>T rs1891254953 0.00001
NM_002225.5(IVD):c.785-4G>A rs369133260 0.00001
NM_002225.5(IVD):c.789C>T (p.Ala263=) rs2542737347 0.00001
NM_002225.5(IVD):c.792C>T (p.Asn264=) rs1014581097 0.00001
NM_002225.5(IVD):c.795C>T (p.Ile265=) rs763376510 0.00001
NM_002225.5(IVD):c.798G>C (p.Leu266=) rs1263112437 0.00001
NM_002225.5(IVD):c.803A>G (p.His268Arg) rs201778625 0.00001
NM_002225.5(IVD):c.817G>A (p.Val273Ile) rs372558622 0.00001
NM_002225.5(IVD):c.81G>A (p.Gln27=) rs898534021 0.00001
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399 0.00001
NM_002225.5(IVD):c.833G>C (p.Ser278Thr) rs746615207 0.00001
NM_002225.5(IVD):c.850C>T (p.Arg284Trp) rs145847749 0.00001
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098 0.00001
NM_002225.5(IVD):c.864C>T (p.Ala288=) rs1566939786 0.00001
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00001
NM_002225.5(IVD):c.878+1G>A rs745629936 0.00001
NM_002225.5(IVD):c.878+7G>A rs1320091526 0.00001
NM_002225.5(IVD):c.879-12C>T rs772633374 0.00001
NM_002225.5(IVD):c.888A>G (p.Gln296=) rs564690986 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750 0.00001
NM_002225.5(IVD):c.960+7C>T rs113361784 0.00001
NM_002225.5(IVD):c.961-16A>G rs922229248 0.00001
NM_002225.5(IVD):c.961-5C>T rs1002152963 0.00001
NM_002225.5(IVD):c.972G>A (p.Gly324=) rs748522492 0.00001
NM_002225.5(IVD):c.985_986del (p.Met329fs) rs2542756101 0.00001
NM_002225.5(IVD):c.986T>C (p.Met329Thr) rs1319705053 0.00001
NM_002225.5(IVD):c.994C>T (p.Arg332Cys) rs1891643589 0.00001
NM_002225.5(IVD):c.995G>A (p.Arg332His) rs745464766 0.00001
NM_002225.5(IVD):c.99G>A (p.Leu33=) rs1026174549 0.00001
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.10:g.(?_40416068)_(40418273_?)del
NC_000015.9:g.(40707682_40708276)_(40713508_?)del
NC_000015.9:g.(?_40698000)_(40700209_?)del
NC_000015.9:g.(?_40698010)_(40698182_?)del
NC_000015.9:g.(?_40698010)_(40710472_?)del
NC_000015.9:g.(?_40698020)_(40700209_?)del
NC_000015.9:g.(?_40699827)_(40710472_?)del
NC_000015.9:g.(?_40702817)_(40708571_?)del
NC_000015.9:g.(?_40710309)_(40710462_?)del
NM_001354601.3(IVD):c.1204G>C (p.Glu402Gln)
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*1245C>T rs974616361
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*1944C>T rs910131258
NM_002225.5(IVD):c.*1984G>C rs969539454
NM_002225.5(IVD):c.*2389C>T rs1892216503
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2960C>T rs926243484
NM_002225.5(IVD):c.*3036A>C rs913379191
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*568A>T rs1891996350
NM_002225.5(IVD):c.*787T>C rs1892021365
NM_002225.5(IVD):c.*822G>T rs373923824
NM_002225.5(IVD):c.*825C>A rs7182052
NM_002225.5(IVD):c.-4A>G rs2141288785
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.1005G>C (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1006T>C (p.Cys336Arg)
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr) rs2542756668
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly) rs776608445
NM_002225.5(IVD):c.1023C>T (p.Tyr341=) rs2141360315
NM_002225.5(IVD):c.1029C>T (p.Val343=) rs896815486
NM_002225.5(IVD):c.102C>G (p.Pro34=) rs2141289869
NM_002225.5(IVD):c.102C>T (p.Pro34=) rs2141289869
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1065+13C>T rs2542757725
NM_002225.5(IVD):c.1065+7G>A rs1238566157
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn) rs910454086
NM_002225.5(IVD):c.1066-18C>G rs1566941465
NM_002225.5(IVD):c.1066-18C>T rs1566941465
NM_002225.5(IVD):c.1066-19C>T rs2542759325
NM_002225.5(IVD):c.1066-20A>G rs2542759302
NM_002225.5(IVD):c.1066-4G>T rs374193700
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1066del rs2542759702
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp) rs2542759845
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs) rs1891674455
NM_002225.5(IVD):c.107A>G (p.Asp36Gly) rs2141289941
NM_002225.5(IVD):c.1087dup (p.Tyr363fs) rs2542760189
NM_002225.5(IVD):c.1092A>G (p.Ser364=) rs2141361852
NM_002225.5(IVD):c.1092A>T (p.Ser364=) rs2141361852
NM_002225.5(IVD):c.1095T>C (p.Ala365=) rs1595790601
NM_002225.5(IVD):c.109G>A (p.Asp37Asn) rs2141289961
NM_002225.5(IVD):c.1104C>T (p.Ala368=) rs1050218
NM_002225.5(IVD):c.1107A>C (p.Thr369=) rs1286789645
NM_002225.5(IVD):c.1107A>G (p.Thr369=) rs1286789645
NM_002225.5(IVD):c.1110G>A (p.Gln370=) rs2542760575
NM_002225.5(IVD):c.1119G>A (p.Leu373=) rs1891680267
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser) rs1469021843
NM_002225.5(IVD):c.1136_1138+4del
NM_002225.5(IVD):c.1138+10C>A rs2542761425
NM_002225.5(IVD):c.1138+13C>A rs770658726
NM_002225.5(IVD):c.1138+14A>C rs2542761508
NM_002225.5(IVD):c.1138+19C>G rs985467887
NM_002225.5(IVD):c.1138+20C>T rs2542761585
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg) rs1891683650
NM_002225.5(IVD):c.1139-10C>G rs2542782538
NM_002225.5(IVD):c.1139-11C>A rs1271474347
NM_002225.5(IVD):c.1139-11C>G rs1271474347
NM_002225.5(IVD):c.1139-20T>C rs2542782349
NM_002225.5(IVD):c.1139-4G>A rs2542782671
NM_002225.5(IVD):c.1139-5T>G rs950756825
NM_002225.5(IVD):c.1139-7G>A rs2141373271
NM_002225.5(IVD):c.1140del (p.Gly381fs) rs2542782727
NM_002225.5(IVD):c.114A>G (p.Ala38=) rs2542620563
NM_002225.5(IVD):c.1155C>T (p.Ile385=) rs2542782917
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr) rs1432716785
NM_002225.5(IVD):c.1166C>T (p.Pro389Leu)
NM_002225.5(IVD):c.1167C>T (p.Pro389=) rs2141373519
NM_002225.5(IVD):c.1179T>C (p.Phe393=)
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1186G>C (p.Asp396His) rs1566943451
NM_002225.5(IVD):c.1197G>A (p.Leu399=) rs1566943469
NM_002225.5(IVD):c.1201G>T (p.Glu401Ter)
NM_002225.5(IVD):c.1204_1210del (p.Ile402fs) rs2542783643
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1206A>G (p.Ile402Met) rs1891921859
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer) rs2542783787
NM_002225.5(IVD):c.1212T>G (p.Ala404=) rs2542783885
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys) rs755693286
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.122G>A (p.Gly41Glu) rs2141290050
NM_002225.5(IVD):c.123G>A (p.Gly41=)
NM_002225.5(IVD):c.1242C>A (p.Ile414=) rs756694379
NM_002225.5(IVD):c.1242C>G (p.Ile414Met) rs756694379
NM_002225.5(IVD):c.1242C>T (p.Ile414=) rs756694379
NM_002225.5(IVD):c.124C>T (p.Leu42=) rs777674887
NM_002225.5(IVD):c.1256A>G (p.Asn419Ser)
NM_002225.5(IVD):c.125T>A (p.Leu42Gln) rs121434284
NM_002225.5(IVD):c.125T>G (p.Leu42Arg) rs121434284
NM_002225.5(IVD):c.126A>C (p.Leu42=) rs1426096405
NM_002225.5(IVD):c.126A>G (p.Leu42=) rs1426096405
NM_002225.5(IVD):c.127dup (p.Ser43fs) rs2542620925
NM_002225.5(IVD):c.12G>C (p.Ala4=) rs755144206
NM_002225.5(IVD):c.133G>A (p.Glu45Lys) rs1890355188
NM_002225.5(IVD):c.137A>G (p.Gln46Arg) rs1890355492
NM_002225.5(IVD):c.142C>G (p.Gln48Glu) rs771280106
NM_002225.5(IVD):c.144+10C>G rs2141290384
NM_002225.5(IVD):c.144+15C>T rs2542621556
NM_002225.5(IVD):c.144+17C>T rs1890359187
NM_002225.5(IVD):c.144+18C>T rs2542621633
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.144+1G>C rs928991928
NM_002225.5(IVD):c.144+20del rs2542621657
NM_002225.5(IVD):c.144+327G>A
NM_002225.5(IVD):c.144+4A>G
NM_002225.5(IVD):c.144+7A>C rs1595750832
NM_002225.5(IVD):c.144+8G>A rs1248918125
NM_002225.5(IVD):c.145-10C>T rs1451681639
NM_002225.5(IVD):c.145-14C>T rs779618154
NM_002225.5(IVD):c.145-19T>C rs1438075206
NM_002225.5(IVD):c.145-2A>T rs144099251
NM_002225.5(IVD):c.145-5A>T
NM_002225.5(IVD):c.145-7C>T rs2141301246
NM_002225.5(IVD):c.145-8C>G rs1890586123
NM_002225.5(IVD):c.145-8C>T rs1890586123
NM_002225.5(IVD):c.145-9T>C rs2542642190
NM_002225.5(IVD):c.147T>C (p.Leu49=) rs2141301309
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.149G>T (p.Arg50Leu) rs2229311
NM_002225.5(IVD):c.150del (p.Gln51fs) rs2141301396
NM_002225.5(IVD):c.156C>G (p.Thr52=) rs2141301442
NM_002225.5(IVD):c.157_160dup (p.Ala54fs) rs1555403211
NM_002225.5(IVD):c.158T>C (p.Met53Thr) rs1890589984
NM_002225.5(IVD):c.15T>C (p.Thr5=) rs2141289023
NM_002225.5(IVD):c.162T>C (p.Ala54=) rs1460583645
NM_002225.5(IVD):c.163A>T (p.Lys55Ter) rs1443916294
NM_002225.5(IVD):c.174G>A (p.Gln58=) rs2141301579
NM_002225.5(IVD):c.177G>A (p.Glu59=) rs2542642955
NM_002225.5(IVD):c.179A>C (p.His60Pro) rs2542642978
NM_002225.5(IVD):c.17G>A (p.Arg6Gln) rs748160492
NM_002225.5(IVD):c.192G>A (p.Lys64=)
NM_002225.5(IVD):c.199G>T (p.Glu67Ter) rs199865931
NM_002225.5(IVD):c.1A>G (p.Met1Val)
NM_002225.5(IVD):c.204C>A (p.Ile68=) rs780579571
NM_002225.5(IVD):c.204C>T (p.Ile68=) rs780579571
NM_002225.5(IVD):c.206_209del (p.Asp69fs)
NM_002225.5(IVD):c.215A>G (p.Asn72Ser) rs753978883
NM_002225.5(IVD):c.225del (p.Asn76fs) rs2141302044
NM_002225.5(IVD):c.229C>G (p.Leu77Val) rs143807229
NM_002225.5(IVD):c.232C>A (p.Arg78=) rs765815516
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.234+10G>A rs2542644336
NM_002225.5(IVD):c.234+10del rs745874056
NM_002225.5(IVD):c.234+16C>G rs750473075
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.234+17G>C rs568900608
NM_002225.5(IVD):c.234+25_234+34dup rs1890606143
NM_002225.5(IVD):c.235-13A>G rs2542648802
NM_002225.5(IVD):c.235-16T>C
NM_002225.5(IVD):c.235-1G>A rs2542648975
NM_002225.5(IVD):c.235-5G>C rs1206566729
NM_002225.5(IVD):c.242G>A (p.Trp81Ter) rs767782379
NM_002225.5(IVD):c.243G>A (p.Trp81Ter) rs540375168
NM_002225.5(IVD):c.254G>A (p.Gly85Glu) rs2141304438
NM_002225.5(IVD):c.255G>A (p.Gly85=) rs778593528
NM_002225.5(IVD):c.259del (p.Leu87fs) rs2542649345
NM_002225.5(IVD):c.261_262delinsTT (p.Gly88Cys) rs2542649437
NM_002225.5(IVD):c.263del (p.Gly88fs) rs2542649462
NM_002225.5(IVD):c.264C>A (p.Gly88=) rs377199313
NM_002225.5(IVD):c.264C>G (p.Gly88=) rs377199313
NM_002225.5(IVD):c.267A>G (p.Val89=) rs2542649665
NM_002225.5(IVD):c.268T>C (p.Leu90=) rs780854004
NM_002225.5(IVD):c.270G>A (p.Leu90=) rs2542649764
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.272del (p.Gly91fs) rs2542649798
NM_002225.5(IVD):c.275_285del (p.Ile92fs) rs2542649911
NM_002225.5(IVD):c.285del (p.Val96fs) rs2542650079
NM_002225.5(IVD):c.286+14C>G rs2542650290
NM_002225.5(IVD):c.286+15T>C
NM_002225.5(IVD):c.286+16_286+17del rs775497134
NM_002225.5(IVD):c.286+18C>G rs979431930
NM_002225.5(IVD):c.286+18C>T rs979431930
NM_002225.5(IVD):c.286+3_286+6dup rs2542650161
NM_002225.5(IVD):c.287-10C>T rs751015371
NM_002225.5(IVD):c.287-11A>G rs2542677988
NM_002225.5(IVD):c.287-12C>T rs954962043
NM_002225.5(IVD):c.287-14C>G rs779445174
NM_002225.5(IVD):c.287-18G>T rs758022841
NM_002225.5(IVD):c.287-19T>G rs1890960288
NM_002225.5(IVD):c.287-2A>C rs781340220
NM_002225.5(IVD):c.287-2A>G rs781340220
NM_002225.5(IVD):c.294T>C (p.Tyr98=) rs2141322944
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter) rs2141322944
NM_002225.5(IVD):c.297C>A (p.Gly99=) rs377129112
NM_002225.5(IVD):c.2T>C (p.Met1Thr) rs368860056
NM_002225.5(IVD):c.300C>A (p.Gly100=) rs777674066
NM_002225.5(IVD):c.300C>T (p.Gly100=) rs777674066
NM_002225.5(IVD):c.306C>A (p.Gly102=) rs1890967563
NM_002225.5(IVD):c.307C>T (p.Leu103=) rs1465206137
NM_002225.5(IVD):c.315C>T (p.Tyr105=) rs2542678880
NM_002225.5(IVD):c.320A>G (p.Glu107Gly) rs2141323321
NM_002225.5(IVD):c.321G>A (p.Glu107=) rs1448958748
NM_002225.5(IVD):c.324T>C (p.His108=) rs1302479942
NM_002225.5(IVD):c.327G>A (p.Val109=) rs2542679113
NM_002225.5(IVD):c.339G>A (p.Glu113=) rs2542679290
NM_002225.5(IVD):c.33T>C (p.Arg11=) rs2141289261
NM_002225.5(IVD):c.340G>C (p.Glu114Gln) rs2542679335
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412
NM_002225.5(IVD):c.350G>A (p.Arg117Gln) rs145725101
NM_002225.5(IVD):c.359G>A (p.Gly120Glu) rs1890974853
NM_002225.5(IVD):c.360A>G (p.Gly120=) rs2141323670
NM_002225.5(IVD):c.363A>T (p.Ala121=) rs2542679689
NM_002225.5(IVD):c.369G>T (p.Gly123=) rs1566935103
NM_002225.5(IVD):c.36G>A (p.Val12=) rs2141289293
NM_002225.5(IVD):c.376T>C (p.Tyr126His) rs12388
NM_002225.5(IVD):c.378C>T (p.Tyr126=) rs1360239245
NM_002225.5(IVD):c.381T>C (p.Gly127=) rs2141323846
NM_002225.5(IVD):c.384C>A (p.Ala128=) rs2141323906
NM_002225.5(IVD):c.386A>G (p.His129Arg)
NM_002225.5(IVD):c.394del (p.Leu132fs) rs1566935193
NM_002225.5(IVD):c.402C>T (p.Ile134=) rs1357609658
NM_002225.5(IVD):c.415C>T (p.Arg139Cys) rs376324882
NM_002225.5(IVD):c.417C>T (p.Arg139=) rs2542681099
NM_002225.5(IVD):c.419A>G (p.Asn140Ser) rs1346585286
NM_002225.5(IVD):c.426T>C (p.Asn142=) rs1025400393
NM_002225.5(IVD):c.432C>G (p.Ala144=) rs1213604093
NM_002225.5(IVD):c.433C>T (p.Gln145Ter) rs2542681353
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.439G>T (p.Glu147Ter) rs981444721
NM_002225.5(IVD):c.442A>T (p.Lys148Ter) rs1199952317
NM_002225.5(IVD):c.444G>A (p.Lys148=) rs768172531
NM_002225.5(IVD):c.447T>C (p.Tyr149=) rs2542681649
NM_002225.5(IVD):c.44G>A (p.Trp15Ter) rs907414760
NM_002225.5(IVD):c.452C>G (p.Pro151Arg) rs368039768
NM_002225.5(IVD):c.456+11G>A rs774097116
NM_002225.5(IVD):c.456+11G>C rs774097116
NM_002225.5(IVD):c.456+12G>T rs759072784
NM_002225.5(IVD):c.456+15A>G rs2542682077
NM_002225.5(IVD):c.456+1G>A
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.457-12T>C rs2542689428
NM_002225.5(IVD):c.457-16G>A rs770227976
NM_002225.5(IVD):c.457-19T>C rs2542689240
NM_002225.5(IVD):c.457-1G>A rs760307260
NM_002225.5(IVD):c.457-20G>A rs768709744
NM_002225.5(IVD):c.457-20G>T rs768709744
NM_002225.5(IVD):c.457-2A>C rs771914739
NM_002225.5(IVD):c.457-2A>T rs771914739
NM_002225.5(IVD):c.457-3C>T rs759264185
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.457-4G>A rs2141328194
NM_002225.5(IVD):c.457-7C>T rs2141328172
NM_002225.5(IVD):c.457C>G (p.Leu153Val) rs763665120
NM_002225.5(IVD):c.459G>C (p.Leu153=) rs372974651
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer) rs2542618992
NM_002225.5(IVD):c.462C>A (p.Ile154=) rs1566935817
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.466G>A (p.Gly156Ser) rs1555404010
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.468T>A (p.Gly156=) rs1347223115
NM_002225.5(IVD):c.489C>T (p.Ala163=) rs2542690367
NM_002225.5(IVD):c.491T>C (p.Met164Thr) rs1891052909
NM_002225.5(IVD):c.495T>C (p.Ser165=) rs1430512539
NM_002225.5(IVD):c.498G>A (p.Glu166=) rs1891054324
NM_002225.5(IVD):c.49C>T (p.Leu17=) rs1234010192
NM_002225.5(IVD):c.504T>C (p.Asn168=) rs1472673106
NM_002225.5(IVD):c.507A>G (p.Ala169=) rs1264489838
NM_002225.5(IVD):c.507A>T (p.Ala169=) rs1264489838
NM_002225.5(IVD):c.513T>C (p.Ser171=) rs2141328958
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.520G>T (p.Val174Phe)
NM_002225.5(IVD):c.521T>G (p.Val174Gly) rs1891058364
NM_002225.5(IVD):c.525T>C (p.Ser175=) rs2542691095
NM_002225.5(IVD):c.531G>A (p.Lys177=) rs1891059665
NM_002225.5(IVD):c.541G>T (p.Glu181Ter) rs2141329244
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs) rs2542691558
NM_002225.5(IVD):c.550+10C>G rs762786940
NM_002225.5(IVD):c.550+10C>T rs762786940
NM_002225.5(IVD):c.550+17C>T rs2542691893
NM_002225.5(IVD):c.550+18T>A
NM_002225.5(IVD):c.550+18T>G rs372448489
NM_002225.5(IVD):c.550+19T>G rs2542691977
NM_002225.5(IVD):c.550+6G>A rs1891063818
NM_002225.5(IVD):c.551-17C>T rs2542695354
NM_002225.5(IVD):c.551-1G>A rs1057517043
NM_002225.5(IVD):c.551-5C>T rs762840448
NM_002225.5(IVD):c.561C>T (p.Tyr187=) rs2542695939
NM_002225.5(IVD):c.564C>T (p.Ile188=) rs1171530725
NM_002225.5(IVD):c.581del (p.Phe194fs) rs2542696243
NM_002225.5(IVD):c.585G>A (p.Trp195Ter) rs2542696391
NM_002225.5(IVD):c.588C>T (p.Ile196=) rs2141331170
NM_002225.5(IVD):c.591T>C (p.Thr197=) rs2542696499
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.59C>T (p.Pro20Leu) rs764633468
NM_002225.5(IVD):c.607G>C (p.Asp203His) rs2141331313
NM_002225.5(IVD):c.60G>T (p.Pro20=) rs1482549847
NM_002225.5(IVD):c.613C>T (p.Leu205=) rs1891095620
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.61_67del (p.Leu21fs) rs1890343709
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys) rs758778071
NM_002225.5(IVD):c.624T>C (p.Tyr208=) rs1267359192
NM_002225.5(IVD):c.630G>A (p.Lys210=) rs1337743160
NM_002225.5(IVD):c.631A>G (p.Thr211Ala) rs747807491
NM_002225.5(IVD):c.634G>C (p.Asp212His) rs1011144878
NM_002225.5(IVD):c.634_635del (p.Asp212fs) rs2542697378
NM_002225.5(IVD):c.639G>C (p.Leu213=) rs2141331622
NM_002225.5(IVD):c.640_641del (p.Ala214fs) rs2542697546
NM_002225.5(IVD):c.641C>T (p.Ala214Val) rs1891098989
NM_002225.5(IVD):c.642T>G (p.Ala214=) rs2141331657
NM_002225.5(IVD):c.646G>A (p.Val216Met) rs1343378731
NM_002225.5(IVD):c.648G>C (p.Val216=)
NM_002225.5(IVD):c.650del (p.Pro217fs) rs1364046355
NM_002225.5(IVD):c.659G>A (p.Arg220Gln) rs1595773441
NM_002225.5(IVD):c.667dup (p.Thr223fs) rs2542698265
NM_002225.5(IVD):c.669dup (p.Ala224fs) rs2542698306
NM_002225.5(IVD):c.66C>G (p.Ala22=) rs2141289538
NM_002225.5(IVD):c.66C>T (p.Ala22=) rs2141289538
NM_002225.5(IVD):c.671C>A (p.Ala224Asp) rs2542698337
NM_002225.5(IVD):c.678T>G (p.Ile226Met) rs1891104586
NM_002225.5(IVD):c.681G>A (p.Val227=) rs770792721
NM_002225.5(IVD):c.685_687+15del rs2141332016
NM_002225.5(IVD):c.687+15G>A
NM_002225.5(IVD):c.687+1G>C rs2141332035
NM_002225.5(IVD):c.687+2T>C rs2141332040
NM_002225.5(IVD):c.687+7_687+16del rs975307399
NM_002225.5(IVD):c.687+8T>C rs1426896228
NM_002225.5(IVD):c.687+8T>G rs1426896228
NM_002225.5(IVD):c.688-13G>A rs2141339742
NM_002225.5(IVD):c.688-14del rs561133272
NM_002225.5(IVD):c.688-19C>T rs2542713287
NM_002225.5(IVD):c.688-1G>T
NM_002225.5(IVD):c.688-6G>A rs770402490
NM_002225.5(IVD):c.693dup (p.Pro232fs) rs2542713682
NM_002225.5(IVD):c.69C>T (p.Gly23=) rs2542619523
NM_002225.5(IVD):c.6G>T (p.Ala2=) rs2542617824
NM_002225.5(IVD):c.711dup (p.Lys238Ter) rs1555404426
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.715A>T (p.Lys239Ter) rs2542714217
NM_002225.5(IVD):c.717G>A (p.Lys239=) rs1424513716
NM_002225.5(IVD):c.71T>C (p.Phe24Ser) rs2542619580
NM_002225.5(IVD):c.720G>A (p.Leu240=) rs2141340085
NM_002225.5(IVD):c.721G>A (p.Asp241Asn) rs2141340100
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter) rs2542714477
NM_002225.5(IVD):c.727C>T (p.Leu243=) rs1361082669
NM_002225.5(IVD):c.72C>T (p.Phe24=) rs1403443551
NM_002225.5(IVD):c.732G>A (p.Gly244=) rs1449259635
NM_002225.5(IVD):c.738G>A (p.Arg246=) rs1891248621
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.750C>T (p.Thr250=) rs2141340373
NM_002225.5(IVD):c.761_785-762del
NM_002225.5(IVD):c.762C>A (p.Ile254=) rs2542715186
NM_002225.5(IVD):c.772T>G (p.Cys258Gly) rs2141340538
NM_002225.5(IVD):c.774C>T (p.Cys258=) rs2542715312
NM_002225.5(IVD):c.784+11C>T rs377685235
NM_002225.5(IVD):c.784+18del rs1891256695
NM_002225.5(IVD):c.784+7A>T rs2542715718
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.785-2A>T rs2542737278
NM_002225.5(IVD):c.785-7C>T rs2141351235
NM_002225.5(IVD):c.785-9del rs2542737140
NM_002225.5(IVD):c.78C>G (p.Ser26=) rs2542619681
NM_002225.5(IVD):c.798G>A (p.Leu266=) rs1263112437
NM_002225.5(IVD):c.804T>C (p.His268=) rs1222057287
NM_002225.5(IVD):c.810del (p.Asn270fs) rs2542737808
NM_002225.5(IVD):c.813G>A (p.Lys271=) rs767825575
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs) rs2542737883
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys) rs764657640
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer) rs2542738169
NM_002225.5(IVD):c.823G>A (p.Val275Met) rs757832700
NM_002225.5(IVD):c.823G>C (p.Val275Leu) rs757832700
NM_002225.5(IVD):c.832A>G (p.Ser278Gly) rs552272986
NM_002225.5(IVD):c.835G>A (p.Gly279Arg)
NM_002225.5(IVD):c.837G>A (p.Gly279=) rs754853734
NM_002225.5(IVD):c.838_841del (p.Leu280fs) rs2141351682
NM_002225.5(IVD):c.840G>A (p.Leu280=) rs2141351717
NM_002225.5(IVD):c.844C>T (p.Leu282=) rs911442382
NM_002225.5(IVD):c.846G>A (p.Leu282=) rs2542738677
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.84G>C (p.Arg28=) rs2542619848
NM_002225.5(IVD):c.853C>G (p.Leu285Val) rs1891485630
NM_002225.5(IVD):c.856G>A (p.Val286Met) rs770077099
NM_002225.5(IVD):c.864C>G (p.Ala288=) rs1566939786
NM_002225.5(IVD):c.865G>T (p.Gly289Trp) rs568885234
NM_002225.5(IVD):c.870G>A (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.870del (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.871C>G (p.Pro291Ala)
NM_002225.5(IVD):c.872C>T (p.Pro291Leu) rs2542739501
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
NM_002225.5(IVD):c.878+15C>G rs1362610435
NM_002225.5(IVD):c.878+2T>C rs2542739685
NM_002225.5(IVD):c.878+5G>A rs2542739768
NM_002225.5(IVD):c.879-19C>T rs375250023
NM_002225.5(IVD):c.879-5G>C rs750569823
NM_002225.5(IVD):c.879-7C>T rs2141355100
NM_002225.5(IVD):c.87C>A (p.Ala29=) rs751297903
NM_002225.5(IVD):c.87C>G (p.Ala29=) rs751297903
NM_002225.5(IVD):c.87C>T (p.Ala29=) rs751297903
NM_002225.5(IVD):c.880C>T (p.Leu294Phe) rs2542747049
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.882C>G (p.Leu294=) rs1193214205
NM_002225.5(IVD):c.883A>T (p.Met295Leu) rs1595786853
NM_002225.5(IVD):c.887A>T (p.Gln296Leu) rs1595786862
NM_002225.5(IVD):c.891G>T (p.Ala297=) rs138427412
NM_002225.5(IVD):c.894C>T (p.Val298=) rs1566940284
NM_002225.5(IVD):c.906C>A (p.Thr302=) rs1891560320
NM_002225.5(IVD):c.912C>T (p.Pro304=) rs1324916195
NM_002225.5(IVD):c.919C>T (p.His307Tyr) rs2141355545
NM_002225.5(IVD):c.921C>T (p.His307=) rs1304408183
NM_002225.5(IVD):c.928del (p.Glu310fs) rs2542747913
NM_002225.5(IVD):c.930A>G (p.Glu310=) rs1209121749
NM_002225.5(IVD):c.940C>T (p.Gln314Ter) rs1566940436
NM_002225.5(IVD):c.948C>G (p.Ile316Met)
NM_002225.5(IVD):c.954C>T (p.His318=) rs1595787254
NM_002225.5(IVD):c.957C>T (p.Phe319=) rs1197885966
NM_002225.5(IVD):c.958C>T (p.Gln320Ter) rs757351801
NM_002225.5(IVD):c.960+1G>A rs2542748614
NM_002225.5(IVD):c.960+7C>A rs113361784
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.961-13C>A rs2542755328
NM_002225.5(IVD):c.961-1G>A
NM_002225.5(IVD):c.961-1G>T rs1555405067
NM_002225.5(IVD):c.961-20T>C rs780059593
NM_002225.5(IVD):c.961-20T>G
NM_002225.5(IVD):c.961-2A>G rs1057517056
NM_002225.5(IVD):c.961-2A>T rs1057517056
NM_002225.5(IVD):c.967C>G (p.Gln323Glu) rs1891639284
NM_002225.5(IVD):c.974del (p.Lys325fs) rs1555405070
NM_002225.5(IVD):c.977T>C (p.Met326Thr) rs1891640609
NM_002225.5(IVD):c.990C>T (p.Tyr330=) rs774192404
NM_002225.5(IVD):c.994del (p.Arg332fs) rs1555405080
NM_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766

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