ClinVar Miner

List of variants reported as likely benign for pyruvate dehydrogenase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 981
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly) rs144235197 0.00129
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr) rs140678772 0.00103
NM_000108.5(DLD):c.583-3C>T rs186031819 0.00088
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_001931.5(DLAT):c.1677+8A>G rs201994231 0.00054
NM_001931.5(DLAT):c.754C>T (p.Leu252=) rs139194443 0.00048
NM_006859.4(LIAS):c.807G>A (p.Gln269=) rs140846573 0.00048
NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala) rs143152014 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_001931.5(DLAT):c.382G>A (p.Val128Ile) rs144677434 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000925.4(PDHB):c.97-5G>A rs200429396 0.00026
NM_000925.4(PDHB):c.564A>G (p.Lys188=) rs146996786 0.00025
NM_001931.5(DLAT):c.1290+13C>T rs781932978 0.00023
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280 0.00021
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081 0.00021
NM_001931.5(DLAT):c.109C>G (p.Arg37Gly) rs183829292 0.00020
NM_006859.4(LIAS):c.297T>C (p.Asn99=) rs144299903 0.00019
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361 0.00018
NM_000925.4(PDHB):c.150T>C (p.Asp50=) rs367846961 0.00016
NM_001931.5(DLAT):c.1476C>T (p.Pro492=) rs370501604 0.00016
NM_001931.5(DLAT):c.828G>T (p.Leu276=) rs199835215 0.00016
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_000284.4(PDHA1):c.57+6A>T rs375415868 0.00014
NM_001931.5(DLAT):c.1399-13C>T rs374698306 0.00014
NM_001931.5(DLAT):c.279+13C>A rs187974706 0.00014
NM_001931.5(DLAT):c.381+12_381+13insG rs781916881 0.00014
NM_001931.5(DLAT):c.687C>T (p.Thr229=) rs144642035 0.00014
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser) rs147516123 0.00014
NM_001931.5(DLAT):c.318C>A (p.Gly106=) rs201070254 0.00013
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885 0.00012
NM_001931.5(DLAT):c.969A>C (p.Pro323=) rs587627931 0.00012
NM_000108.5(DLD):c.267+9G>A rs188936529 0.00011
NM_000925.4(PDHB):c.935-12T>G rs200752186 0.00011
NM_001931.5(DLAT):c.1743C>T (p.Asn581=) rs150592352 0.00011
NM_001931.5(DLAT):c.506+9T>C rs782244285 0.00011
NM_000108.5(DLD):c.337+7A>G rs371072449 0.00010
NM_000108.5(DLD):c.876-6A>T rs199944006 0.00010
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319 0.00010
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613 0.00009
NM_000925.4(PDHB):c.501G>T (p.Gly167=) rs759053641 0.00009
NM_001931.5(DLAT):c.1374G>A (p.Leu458=) rs147264946 0.00009
NM_001931.5(DLAT):c.1692G>A (p.Thr564=) rs185907405 0.00009
NM_006859.4(LIAS):c.129A>G (p.Pro43=) rs377315137 0.00009
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) rs201996792 0.00009
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359 0.00008
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln) rs144967854 0.00008
NM_000108.5(DLD):c.119-4G>A rs376605135 0.00007
NM_000925.4(PDHB):c.477A>C (p.Ser159=) rs569429778 0.00007
NM_000925.4(PDHB):c.669T>C (p.Ile223=) rs573987651 0.00007
NM_001931.5(DLAT):c.1290+17C>T rs374530178 0.00007
NM_001931.5(DLAT):c.177C>T (p.Cys59=) rs150994149 0.00007
NM_001931.5(DLAT):c.506+12G>A rs372355218 0.00007
NM_001931.5(DLAT):c.870C>T (p.Leu290=) rs587754043 0.00007
NM_006859.4(LIAS):c.1116C>G (p.Leu372=) rs376183576 0.00007
NM_000108.5(DLD):c.609T>C (p.Ser203=) rs144590106 0.00006
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599 0.00006
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_001931.5(DLAT):c.1035A>G (p.Pro345=) rs140302942 0.00006
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val) rs371341957 0.00006
NM_001931.5(DLAT):c.606G>A (p.Ser202=) rs148153443 0.00006
NM_001931.5(DLAT):c.675C>T (p.Ala225=) rs782220140 0.00006
NM_001931.5(DLAT):c.681T>C (p.Ser227=) rs781985635 0.00006
NM_006859.4(LIAS):c.999A>G (p.Lys333=) rs372877643 0.00006
NM_000108.5(DLD):c.807G>T (p.Gly269=) rs912822748 0.00005
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 0.00005
NM_001931.5(DLAT):c.165C>G (p.Val55=) rs199520186 0.00005
NM_006859.4(LIAS):c.393+7C>T rs372423537 0.00005
NM_006859.4(LIAS):c.609-19T>C rs1169661442 0.00005
NM_000108.5(DLD):c.951C>G (p.Pro317=) rs778207997 0.00004
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu) rs759331650 0.00004
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930 0.00004
NM_000925.4(PDHB):c.96+10G>A rs755528489 0.00004
NM_001931.5(DLAT):c.1542G>A (p.Ala514=) rs587652725 0.00004
NM_006859.4(LIAS):c.1066+20A>G rs748825373 0.00004
NM_006859.4(LIAS):c.114C>G (p.Leu38=) rs750439302 0.00004
NM_006859.4(LIAS):c.27C>A (p.Ala9=) rs553110956 0.00004
NM_006859.4(LIAS):c.737+9G>A rs750744754 0.00004
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875 0.00003
NM_000108.5(DLD):c.342C>T (p.Ser114=) rs757785953 0.00003
NM_000108.5(DLD):c.495G>A (p.Thr165=) rs202125454 0.00003
NM_000108.5(DLD):c.723A>C (p.Ala241=) rs751488296 0.00003
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) rs775280711 0.00003
NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys) rs745312079 0.00003
NM_000284.4(PDHA1):c.42C>T (p.Gly14=) rs778260543 0.00003
NM_000284.4(PDHA1):c.899+8C>T rs766362480 0.00003
NM_000925.4(PDHB):c.42+16C>T rs764495667 0.00003
NM_000925.4(PDHB):c.81G>A (p.Ala27=) rs745487481 0.00003
NM_000925.4(PDHB):c.96+14G>C rs774007894 0.00003
NM_001931.5(DLAT):c.1678-7C>T rs781917992 0.00003
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala) rs78320677 0.00003
NM_006859.4(LIAS):c.1066+17G>A rs764338452 0.00003
NM_006859.4(LIAS):c.168G>A (p.Arg56=) rs768182597 0.00003
NM_006859.4(LIAS):c.375C>T (p.Thr125=) rs538035764 0.00003
NM_006859.4(LIAS):c.738-20A>G rs777702565 0.00003
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925 0.00002
NM_000108.5(DLD):c.45C>G (p.Gly15=) rs570539642 0.00002
NM_000108.5(DLD):c.528A>T (p.Thr176=) rs1391814799 0.00002
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572 0.00002
NM_000108.5(DLD):c.684+10G>A rs1345267865 0.00002
NM_000108.5(DLD):c.735A>G (p.Leu245=) rs754865063 0.00002
NM_000284.4(PDHA1):c.21C>T (p.Ala7=) rs1367997023 0.00002
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) rs764516370 0.00002
NM_000284.4(PDHA1):c.663C>T (p.Ile221=) rs929262350 0.00002
NM_000284.4(PDHA1):c.810T>G (p.Ala270=) rs763733376 0.00002
NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser) rs758465753 0.00002
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=) rs755616546 0.00002
NM_000925.4(PDHB):c.1014A>G (p.Leu338=) rs1462611352 0.00002
NM_000925.4(PDHB):c.267+10C>A rs781736851 0.00002
NM_000925.4(PDHB):c.304-4dup rs1285910313 0.00002
NM_000925.4(PDHB):c.327A>G (p.Glu109=) rs370951271 0.00002
NM_000925.4(PDHB):c.33C>G (p.Pro11=) rs771813233 0.00002
NM_000925.4(PDHB):c.36T>C (p.Leu12=) rs981644233 0.00002
NM_000925.4(PDHB):c.390C>T (p.Thr130=) rs192604927 0.00002
NM_000925.4(PDHB):c.48C>T (p.Ser16=) rs375651141 0.00002
NM_000925.4(PDHB):c.52C>T (p.Leu18=) rs534688111 0.00002
NM_001931.5(DLAT):c.1198-16T>C rs377389152 0.00002
NM_001931.5(DLAT):c.381+9T>G rs1363476657 0.00002
NM_001931.5(DLAT):c.402T>C (p.Thr134=) rs886047693 0.00002
NM_006859.4(LIAS):c.234A>G (p.Pro78=) rs766730917 0.00002
NM_006859.4(LIAS):c.46-16T>C rs752442762 0.00002
NM_006859.4(LIAS):c.737+11G>A rs760672937 0.00002
NM_000108.5(DLD):c.1032A>G (p.Gln344=) rs762641521 0.00001
NM_000108.5(DLD):c.1101G>A (p.Glu367=) rs377345899 0.00001
NM_000108.5(DLD):c.1161T>C (p.Asn387=) rs1232556757 0.00001
NM_000108.5(DLD):c.1182C>T (p.Tyr394=) rs757087726 0.00001
NM_000108.5(DLD):c.119-5C>T rs377653882 0.00001
NM_000108.5(DLD):c.1236+9G>A rs780911500 0.00001
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785 0.00001
NM_000108.5(DLD):c.1275T>C (p.Ala425=) rs751879528 0.00001
NM_000108.5(DLD):c.1374+8T>C rs768177436 0.00001
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704 0.00001
NM_000108.5(DLD):c.1467C>A (p.Thr489=) rs1381413555 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000108.5(DLD):c.199-4G>T rs763348101 0.00001
NM_000108.5(DLD):c.199-7G>T rs1358100638 0.00001
NM_000108.5(DLD):c.204C>G (p.Val68=) rs553951105 0.00001
NM_000108.5(DLD):c.24C>T (p.Tyr8=) rs778122189 0.00001
NM_000108.5(DLD):c.268-19T>C rs373587265 0.00001
NM_000108.5(DLD):c.268-7C>T rs1584463325 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000108.5(DLD):c.387T>A (p.Thr129=) rs748122031 0.00001
NM_000108.5(DLD):c.39+11A>C rs2031564900 0.00001
NM_000108.5(DLD):c.393A>G (p.Val131=) rs773013949 0.00001
NM_000108.5(DLD):c.417C>G (p.Ala139=) rs759291025 0.00001
NM_000108.5(DLD):c.504T>C (p.Asp168=) rs1291877622 0.00001
NM_000108.5(DLD):c.540T>C (p.Leu180=) rs369876154 0.00001
NM_000108.5(DLD):c.57A>T (p.Arg19=) rs754899464 0.00001
NM_000108.5(DLD):c.606A>T (p.Ser202=) rs1362069416 0.00001
NM_000108.5(DLD):c.669A>C (p.Val223=) rs764478905 0.00001
NM_000108.5(DLD):c.684+9T>A rs1160897223 0.00001
NM_000108.5(DLD):c.741T>C (p.His247=) rs781000040 0.00001
NM_000108.5(DLD):c.96G>C (p.Leu32=) rs765623212 0.00001
NM_000284.4(PDHA1):c.1083G>A (p.Leu361=) rs745312753 0.00001
NM_000284.4(PDHA1):c.117+9T>G rs763924525 0.00001
NM_000284.4(PDHA1):c.292-23A>G rs1057518702 0.00001
NM_000284.4(PDHA1):c.30C>T (p.Arg10=) rs1425138915 0.00001
NM_000284.4(PDHA1):c.333A>G (p.Thr111=) rs1198119577 0.00001
NM_000284.4(PDHA1):c.411G>A (p.Glu137=) rs1301075698 0.00001
NM_000284.4(PDHA1):c.419-8A>G rs769681451 0.00001
NM_000284.4(PDHA1):c.477C>T (p.Asn159=) rs2063173885 0.00001
NM_000284.4(PDHA1):c.511-6T>C rs1438332782 0.00001
NM_000284.4(PDHA1):c.696T>C (p.Ser232=) rs764871850 0.00001
NM_000284.4(PDHA1):c.699T>C (p.Val233=) rs1279461531 0.00001
NM_000284.4(PDHA1):c.702G>A (p.Glu234=) rs1312669828 0.00001
NM_000284.4(PDHA1):c.756G>A (p.Leu252=) rs768600287 0.00001
NM_000284.4(PDHA1):c.873A>T (p.Gly291=) rs1248347868 0.00001
NM_000284.4(PDHA1):c.899+4C>T rs749903004 0.00001
NM_000284.4(PDHA1):c.900-10C>A rs370163447 0.00001
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=) rs1432211611 0.00001
NM_000284.4(PDHA1):c.948T>A (p.Pro316=) rs759443348 0.00001
NM_000925.4(PDHB):c.1005A>G (p.Ala335=) rs749945707 0.00001
NM_000925.4(PDHB):c.1047C>A (p.Ile349=) rs772087134 0.00001
NM_000925.4(PDHB):c.1069T>C (p.Leu357=) rs768436316 0.00001
NM_000925.4(PDHB):c.1080G>A (p.Ter360=) rs1323403685 0.00001
NM_000925.4(PDHB):c.15T>C (p.Ser5=) rs775907917 0.00001
NM_000925.4(PDHB):c.216G>A (p.Gly72=) rs150167131 0.00001
NM_000925.4(PDHB):c.231T>C (p.Tyr77=) rs1320317596 0.00001
NM_000925.4(PDHB):c.384C>G (p.Ala128=) rs1292480962 0.00001
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_000925.4(PDHB):c.492C>T (p.Ala164=) rs200016955 0.00001
NM_000925.4(PDHB):c.498T>C (p.Tyr166=) rs757249455 0.00001
NM_000925.4(PDHB):c.507C>T (p.Cys169=) rs143765288 0.00001
NM_000925.4(PDHB):c.747C>T (p.Cys249=) rs766540951 0.00001
NM_000925.4(PDHB):c.78C>T (p.Thr26=) rs552159384 0.00001
NM_000925.4(PDHB):c.84G>T (p.Pro28=) rs1458982933 0.00001
NM_000925.4(PDHB):c.897T>C (p.Phe299=) rs145795547 0.00001
NM_000925.4(PDHB):c.915C>A (p.Ile305=) rs140921216 0.00001
NM_000925.4(PDHB):c.942G>A (p.Ala314=) rs148770511 0.00001
NM_000925.4(PDHB):c.96+11C>T rs754446937 0.00001
NM_001931.5(DLAT):c.1071T>C (p.Val357=) rs1306854057 0.00001
NM_001931.5(DLAT):c.1198-20C>T rs1281574403 0.00001
NM_001931.5(DLAT):c.240G>A (p.Ser80=) rs587735788 0.00001
NM_001931.5(DLAT):c.252C>T (p.Arg84=) rs782672095 0.00001
NM_001931.5(DLAT):c.267C>A (p.Pro89=) rs782078082 0.00001
NM_001931.5(DLAT):c.381+8T>G rs782048424 0.00001
NM_001931.5(DLAT):c.654C>T (p.His218=) rs1472423442 0.00001
NM_001931.5(DLAT):c.759A>G (p.Ala253=) rs914123181 0.00001
NM_001931.5(DLAT):c.864C>G (p.Thr288=) rs782236703 0.00001
NM_001931.5(DLAT):c.981C>T (p.Ala327=) rs782157762 0.00001
NM_006859.4(LIAS):c.1029T>C (p.Thr343=) rs777324779 0.00001
NM_006859.4(LIAS):c.138A>G (p.Gln46=) rs1040093656 0.00001
NM_006859.4(LIAS):c.186T>C (p.Tyr62=) rs1166998501 0.00001
NM_006859.4(LIAS):c.18G>A (p.Gly6=) rs774040503 0.00001
NM_006859.4(LIAS):c.24A>G (p.Ala8=) rs750426614 0.00001
NM_006859.4(LIAS):c.330A>T (p.Arg110=) rs757501311 0.00001
NM_006859.4(LIAS):c.378C>T (p.Ala126=) rs1190479485 0.00001
NM_006859.4(LIAS):c.387G>A (p.Thr129=) rs746196972 0.00001
NM_006859.4(LIAS):c.405C>T (p.Asp135=) rs1458548365 0.00001
NM_006859.4(LIAS):c.529C>T (p.Leu177=) rs750168413 0.00001
NM_006859.4(LIAS):c.608+13G>A rs1003800399 0.00001
NM_006859.4(LIAS):c.69C>T (p.Ser23=) rs946086496 0.00001
NM_006859.4(LIAS):c.737+10T>G rs773328488 0.00001
NM_006859.4(LIAS):c.737+8C>T rs984126692 0.00001
NM_006859.4(LIAS):c.738-9G>A rs1256747817 0.00001
NM_006859.4(LIAS):c.789A>G (p.Lys263=) rs1234796638 0.00001
NM_006859.4(LIAS):c.81G>A (p.Pro27=) rs760501971 0.00001
NM_006859.4(LIAS):c.867A>G (p.Val289=) rs745794858 0.00001
NM_006859.4(LIAS):c.883+17A>G rs768249393 0.00001
NM_006859.4(LIAS):c.884-18G>A rs754933240 0.00001
NM_006859.4(LIAS):c.884-4A>G rs1182861876 0.00001
NM_006859.4(LIAS):c.884-5T>A rs374449188 0.00001
NM_006859.4(LIAS):c.916T>C (p.Leu306=) rs779455306 0.00001
NM_000108.5(DLD):c.1005T>C (p.Gly335=) rs763878786
NM_000108.5(DLD):c.1011T>C (p.Ile337=) rs761507009
NM_000108.5(DLD):c.1014A>G (p.Pro338=) rs764979410
NM_000108.5(DLD):c.1023C>A (p.Thr341=) rs2116270465
NM_000108.5(DLD):c.1023C>T (p.Thr341=) rs2116270465
NM_000108.5(DLD):c.1035T>C (p.Thr345=)
NM_000108.5(DLD):c.1044A>C (p.Pro348=) rs1241426016
NM_000108.5(DLD):c.1046+16G>A
NM_000108.5(DLD):c.1046+16G>T
NM_000108.5(DLD):c.1047-13A>T
NM_000108.5(DLD):c.1047-13_1047-5del rs1462836154
NM_000108.5(DLD):c.1047-19C>A
NM_000108.5(DLD):c.1047-4G>T rs2116271429
NM_000108.5(DLD):c.1047-7G>A
NM_000108.5(DLD):c.1047-7G>T
NM_000108.5(DLD):c.1047-7_1047-4del rs2116271424
NM_000108.5(DLD):c.1053T>C (p.Tyr351=) rs2116271455
NM_000108.5(DLD):c.1074T>C (p.Ala358=)
NM_000108.5(DLD):c.108A>G (p.Ala36=)
NM_000108.5(DLD):c.108A>T (p.Ala36=)
NM_000108.5(DLD):c.1095A>G (p.Lys365=)
NM_000108.5(DLD):c.1113T>C (p.Ile371=) rs773097241
NM_000108.5(DLD):c.1116C>A (p.Ile372=) rs2116271616
NM_000108.5(DLD):c.1158C>T (p.Tyr386=)
NM_000108.5(DLD):c.1173A>G (p.Ser391=)
NM_000108.5(DLD):c.1179T>C (p.Ile393=)
NM_000108.5(DLD):c.118+10T>G rs1436028319
NM_000108.5(DLD):c.118+11A>G
NM_000108.5(DLD):c.118+13G>A
NM_000108.5(DLD):c.118+18A>G
NM_000108.5(DLD):c.118+19C>G
NM_000108.5(DLD):c.118+19C>T
NM_000108.5(DLD):c.119-16T>C
NM_000108.5(DLD):c.119-18A>T
NM_000108.5(DLD):c.119-7A>G rs2116206903
NM_000108.5(DLD):c.119-9T>C
NM_000108.5(DLD):c.1191T>C (p.Pro397=) rs2116272074
NM_000108.5(DLD):c.1215A>G (p.Ser405=)
NM_000108.5(DLD):c.1221G>A (p.Glu407=)
NM_000108.5(DLD):c.1233A>G (p.Glu411=)
NM_000108.5(DLD):c.1236+13A>T
NM_000108.5(DLD):c.1236+16G>A rs2116272359
NM_000108.5(DLD):c.1236+16G>T
NM_000108.5(DLD):c.1236+19_1236+20insAAAA
NM_000108.5(DLD):c.1236+7C>A
NM_000108.5(DLD):c.1237-13C>G
NM_000108.5(DLD):c.1237-17T>C
NM_000108.5(DLD):c.1237-5C>T
NM_000108.5(DLD):c.1237-7G>A rs765771763
NM_000108.5(DLD):c.1237-7G>C
NM_000108.5(DLD):c.1245G>A (p.Glu415=)
NM_000108.5(DLD):c.1248C>T (p.Tyr416=) rs773685921
NM_000108.5(DLD):c.1254T>A (p.Val418=) rs763401114
NM_000108.5(DLD):c.1254T>C (p.Val418=) rs763401114
NM_000108.5(DLD):c.1272T>C (p.Ala424=) rs1005430908
NM_000108.5(DLD):c.1296T>C (p.Asn432=) rs2116274251
NM_000108.5(DLD):c.1302C>T (p.Asp434=)
NM_000108.5(DLD):c.1320G>A (p.Lys440=) rs2116274362
NM_000108.5(DLD):c.1323C>T (p.Ile441=)
NM_000108.5(DLD):c.1338G>A (p.Ser446=) rs1323254312
NM_000108.5(DLD):c.1341A>C (p.Thr447=)
NM_000108.5(DLD):c.1344C>T (p.Asp448=)
NM_000108.5(DLD):c.1353G>A (p.Leu451=)
NM_000108.5(DLD):c.1359A>G (p.Ala453=) rs1291150689
NM_000108.5(DLD):c.1374+10G>A rs2116274678
NM_000108.5(DLD):c.1374+12A>G
NM_000108.5(DLD):c.1374+16C>T
NM_000108.5(DLD):c.1374+17C>T
NM_000108.5(DLD):c.1374+9T>A rs1584473925
NM_000108.5(DLD):c.1374+9T>G
NM_000108.5(DLD):c.1375-17G>T
NM_000108.5(DLD):c.1377T>A (p.Gly459=) rs2032340474
NM_000108.5(DLD):c.1416A>G (p.Glu472=)
NM_000108.5(DLD):c.1422A>G (p.Gly474=)
NM_000108.5(DLD):c.1428C>T (p.Ser476=) rs2032344125
NM_000108.5(DLD):c.1437T>C (p.Asp479=)
NM_000108.5(DLD):c.144T>C (p.Gly48=) rs2116207135
NM_000108.5(DLD):c.1464+16A>G
NM_000108.5(DLD):c.1464+17T>C rs2116278286
NM_000108.5(DLD):c.1464+19T>C
NM_000108.5(DLD):c.1465-12C>T
NM_000108.5(DLD):c.1465-16A>T
NM_000108.5(DLD):c.1465-19T>C
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1465-9C>T rs2032348186
NM_000108.5(DLD):c.1482T>C (p.Phe494=) rs2032348683
NM_000108.5(DLD):c.1506A>G (p.Ser502=) rs941059131
NM_000108.5(DLD):c.1515A>G (p.Lys505=)
NM_000108.5(DLD):c.1527T>C (p.Phe509=)
NM_000108.5(DLD):c.156A>G (p.Gly52=)
NM_000108.5(DLD):c.159A>G (p.Gly53=)
NM_000108.5(DLD):c.168T>C (p.Ala56=) rs2116207243
NM_000108.5(DLD):c.180T>G (p.Ala60=) rs2116207327
NM_000108.5(DLD):c.183C>G (p.Ala61=) rs2031882834
NM_000108.5(DLD):c.183C>T (p.Ala61=) rs2031882834
NM_000108.5(DLD):c.189A>G (p.Leu63=)
NM_000108.5(DLD):c.18T>C (p.Arg6=) rs2116150112
NM_000108.5(DLD):c.192C>A (p.Gly64=) rs1222766486
NM_000108.5(DLD):c.198+10G>C rs777566045
NM_000108.5(DLD):c.199-10T>C rs2116209763
NM_000108.5(DLD):c.199-4G>A
NM_000108.5(DLD):c.199-6T>C rs1584462430
NM_000108.5(DLD):c.204C>T (p.Val68=) rs553951105
NM_000108.5(DLD):c.228T>C (p.Leu76=)
NM_000108.5(DLD):c.231T>C (p.Gly77=)
NM_000108.5(DLD):c.237A>G (p.Thr79=)
NM_000108.5(DLD):c.267+12T>C
NM_000108.5(DLD):c.267+8T>A
NM_000108.5(DLD):c.267+9G>C rs188936529
NM_000108.5(DLD):c.268-15T>C
NM_000108.5(DLD):c.268-20A>T
NM_000108.5(DLD):c.268-6C>T
NM_000108.5(DLD):c.273A>G (p.Leu91=)
NM_000108.5(DLD):c.27C>T (p.Cys9=)
NM_000108.5(DLD):c.285T>C (p.Ser95=) rs761564212
NM_000108.5(DLD):c.297T>C (p.His99=)
NM_000108.5(DLD):c.306T>C (p.His102=)
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.30C>T (p.Ser10=) rs779166996
NM_000108.5(DLD):c.337+10C>T rs752671238
NM_000108.5(DLD):c.337+16A>G
NM_000108.5(DLD):c.337+17T>C
NM_000108.5(DLD):c.337+19C>T rs751168608
NM_000108.5(DLD):c.338-18del
NM_000108.5(DLD):c.338-4A>C rs2116219347
NM_000108.5(DLD):c.351C>A (p.Arg117=) rs374988228
NM_000108.5(DLD):c.351C>G (p.Arg117=) rs374988228
NM_000108.5(DLD):c.351C>T (p.Arg117=) rs374988228
NM_000108.5(DLD):c.39+10G>A
NM_000108.5(DLD):c.39+10G>C
NM_000108.5(DLD):c.39+12G>A
NM_000108.5(DLD):c.39+14A>G
NM_000108.5(DLD):c.39+14A>T
NM_000108.5(DLD):c.39+20G>C
NM_000108.5(DLD):c.39+7G>A
NM_000108.5(DLD):c.40-10C>G rs2116162378
NM_000108.5(DLD):c.40-17A>G
NM_000108.5(DLD):c.40-18G>A
NM_000108.5(DLD):c.40-20G>A rs2031631950
NM_000108.5(DLD):c.40-4del rs2116162407
NM_000108.5(DLD):c.421T>C (p.Leu141=) rs2116219899
NM_000108.5(DLD):c.432G>A (p.Gln144=)
NM_000108.5(DLD):c.438+12A>C
NM_000108.5(DLD):c.438+15T>C
NM_000108.5(DLD):c.438+15T>G
NM_000108.5(DLD):c.438+16T>G
NM_000108.5(DLD):c.438+7G>A
NM_000108.5(DLD):c.439-4A>G rs1270309743
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.439-7_439-6inv
NM_000108.5(DLD):c.444T>G (p.Val148=) rs2116221274
NM_000108.5(DLD):c.447T>C (p.His149=)
NM_000108.5(DLD):c.450C>A (p.Val150=) rs2116221334
NM_000108.5(DLD):c.453T>C (p.Asn151=)
NM_000108.5(DLD):c.462A>G (p.Gly154=) rs2116221430
NM_000108.5(DLD):c.474C>A (p.Gly158=) rs2116221541
NM_000108.5(DLD):c.474C>T (p.Gly158=)
NM_000108.5(DLD):c.486C>A (p.Val162=)
NM_000108.5(DLD):c.489T>G (p.Thr163=)
NM_000108.5(DLD):c.48T>C (p.His16=) rs2031632982
NM_000108.5(DLD):c.507C>A (p.Gly169=) rs144351432
NM_000108.5(DLD):c.513T>A (p.Thr171=)
NM_000108.5(DLD):c.516G>A (p.Gln172=) rs777748761
NM_000108.5(DLD):c.546C>T (p.Ala182=)
NM_000108.5(DLD):c.552T>C (p.Gly184=)
NM_000108.5(DLD):c.582+11T>G
NM_000108.5(DLD):c.582+13C>A
NM_000108.5(DLD):c.582+16A>G
NM_000108.5(DLD):c.582+16_582+17insC
NM_000108.5(DLD):c.582+18T>C
NM_000108.5(DLD):c.582+18T>G
NM_000108.5(DLD):c.582+19T>G
NM_000108.5(DLD):c.582+7A>G
NM_000108.5(DLD):c.582+7A>T
NM_000108.5(DLD):c.583-15_583-14del
NM_000108.5(DLD):c.583-8T>A
NM_000108.5(DLD):c.585A>T (p.Ile195=)
NM_000108.5(DLD):c.597A>G (p.Thr199=) rs768248572
NM_000108.5(DLD):c.615T>A (p.Gly205=)
NM_000108.5(DLD):c.627A>G (p.Leu209=)
NM_000108.5(DLD):c.630A>G (p.Lys210=)
NM_000108.5(DLD):c.636T>A (p.Val212=) rs2116225767
NM_000108.5(DLD):c.654T>C (p.Val218=) rs1584465590
NM_000108.5(DLD):c.660T>C (p.Gly220=) rs2116225941
NM_000108.5(DLD):c.663A>G (p.Ala221=)
NM_000108.5(DLD):c.666A>G (p.Gly222=) rs2116225961
NM_000108.5(DLD):c.66T>C (p.His22=) rs2116162670
NM_000108.5(DLD):c.684+11T>A
NM_000108.5(DLD):c.684+20C>T
NM_000108.5(DLD):c.685-14T>C
NM_000108.5(DLD):c.685-16_685-14del
NM_000108.5(DLD):c.685-17_685-14del
NM_000108.5(DLD):c.685-18T>G
NM_000108.5(DLD):c.685-19T>C
NM_000108.5(DLD):c.685-20T>C
NM_000108.5(DLD):c.685-4G>A rs1584471861
NM_000108.5(DLD):c.685-4G>T rs1584471861
NM_000108.5(DLD):c.685-8_685-5del rs2032245429
NM_000108.5(DLD):c.685-9_685-5del
NM_000108.5(DLD):c.699A>G (p.Gln233=) rs1418720698
NM_000108.5(DLD):c.69C>T (p.Gly23=)
NM_000108.5(DLD):c.6G>A (p.Gln2=) rs559880901
NM_000108.5(DLD):c.700A>C (p.Arg234=)
NM_000108.5(DLD):c.70C>T (p.Leu24=) rs369442554
NM_000108.5(DLD):c.720A>G (p.Thr240=)
NM_000108.5(DLD):c.723A>G (p.Ala241=) rs751488296
NM_000108.5(DLD):c.729A>G (p.Glu243=) rs2032247071
NM_000108.5(DLD):c.72A>G (p.Leu24=) rs769445579
NM_000108.5(DLD):c.744A>G (p.Val248=)
NM_000108.5(DLD):c.789C>T (p.Arg263=)
NM_000108.5(DLD):c.807G>A (p.Gly269=)
NM_000108.5(DLD):c.828A>G (p.Thr276=) rs2032250540
NM_000108.5(DLD):c.834T>C (p.Val278=) rs1258445963
NM_000108.5(DLD):c.840T>A (p.Gly280=) rs2116264411
NM_000108.5(DLD):c.84T>A (p.Ser28=)
NM_000108.5(DLD):c.84T>C (p.Ser28=)
NM_000108.5(DLD):c.870T>C (p.Asp290=)
NM_000108.5(DLD):c.873T>C (p.Val291=)
NM_000108.5(DLD):c.875+10C>T
NM_000108.5(DLD):c.875+11A>G
NM_000108.5(DLD):c.875+13C>A
NM_000108.5(DLD):c.875+14A>G
NM_000108.5(DLD):c.875+20T>C
NM_000108.5(DLD):c.875+9A>G
NM_000108.5(DLD):c.876-14T>C
NM_000108.5(DLD):c.876-17C>T
NM_000108.5(DLD):c.876-19T>C
NM_000108.5(DLD):c.876-5T>A
NM_000108.5(DLD):c.876-6A>C
NM_000108.5(DLD):c.876-6A>G rs199944006
NM_000108.5(DLD):c.879T>C (p.Ile293=) rs2116269476
NM_000108.5(DLD):c.888T>C (p.Ala296=) rs2032281375
NM_000108.5(DLD):c.897T>C (p.Gly299=) rs2116269619
NM_000108.5(DLD):c.906A>G (p.Glu302=) rs2116269710
NM_000108.5(DLD):c.911T>C (p.Ile304Thr)
NM_000108.5(DLD):c.918T>C (p.Cys306=) rs1433041129
NM_000108.5(DLD):c.924A>C (p.Val308=)
NM_000108.5(DLD):c.924A>G (p.Val308=)
NM_000108.5(DLD):c.93T>C (p.Pro31=) rs1182818821
NM_000108.5(DLD):c.94C>T (p.Leu32=) rs1241052092
NM_000108.5(DLD):c.954T>C (p.Phe318=) rs2116270132
NM_000108.5(DLD):c.978G>A (p.Glu326=)
NM_000108.5(DLD):c.999C>G (p.Pro333=)
NM_000284.4(PDHA1):c.1008+16C>T
NM_000284.4(PDHA1):c.1008+17A>G
NM_000284.4(PDHA1):c.1008+18T>C
NM_000284.4(PDHA1):c.1008+6_1008+14dup rs2147187474
NM_000284.4(PDHA1):c.1008+6_1008+28dup rs1455097408
NM_000284.4(PDHA1):c.1008+6_1008+9dup rs2147187465
NM_000284.4(PDHA1):c.1008+9_1008+17dup rs1569193552
NM_000284.4(PDHA1):c.1008+9_1008+18dup
NM_000284.4(PDHA1):c.1009-11C>T
NM_000284.4(PDHA1):c.1009-12_1009-9dup
NM_000284.4(PDHA1):c.1009-14T>C
NM_000284.4(PDHA1):c.1009-16G>A
NM_000284.4(PDHA1):c.1009-16G>T
NM_000284.4(PDHA1):c.1009-16_1009-14dup
NM_000284.4(PDHA1):c.1009-17_1009-12del
NM_000284.4(PDHA1):c.1009-18C>A
NM_000284.4(PDHA1):c.1009-18_1009-10del
NM_000284.4(PDHA1):c.1009-28_1009-8del rs2147188873
NM_000284.4(PDHA1):c.1009-31_1009-7del rs1569193972
NM_000284.4(PDHA1):c.1009-9_1009-6dup
NM_000284.4(PDHA1):c.1026G>A (p.Val342=)
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=) rs2147189069
NM_000284.4(PDHA1):c.1050C>T (p.Ala350=) rs2147189097
NM_000284.4(PDHA1):c.105A>G (p.Thr35=)
NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) rs1602232961
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=) rs767675495
NM_000284.4(PDHA1):c.1155G>A (p.Lys385=)
NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)
NM_000284.4(PDHA1):c.117+15A>G
NM_000284.4(PDHA1):c.117+7G>A rs1232550777
NM_000284.4(PDHA1):c.118-13T>A
NM_000284.4(PDHA1):c.118-16C>T
NM_000284.4(PDHA1):c.118-20A>C
NM_000284.4(PDHA1):c.118-8C>A rs774137227
NM_000284.4(PDHA1):c.135G>A (p.Arg45=)
NM_000284.4(PDHA1):c.147C>T (p.Gly49=) rs1555933449
NM_000284.4(PDHA1):c.15C>T (p.Leu5=) rs1203110648
NM_000284.4(PDHA1):c.162A>C (p.Thr54=) rs1602223801
NM_000284.4(PDHA1):c.186C>T (p.Leu62=) rs1031411207
NM_000284.4(PDHA1):c.18C>T (p.Ala6=) rs1275009783
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=) rs2147174737
NM_000284.4(PDHA1):c.196A>C (p.Arg66=)
NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)
NM_000284.4(PDHA1):c.21C>G (p.Ala7=)
NM_000284.4(PDHA1):c.225G>A (p.Glu75=) rs1569190079
NM_000284.4(PDHA1):c.240G>A (p.Gln80=) rs1602223831
NM_000284.4(PDHA1):c.270C>T (p.Phe90=) rs2147174805
NM_000284.4(PDHA1):c.291+8G>A rs1022434857
NM_000284.4(PDHA1):c.292-10T>A
NM_000284.4(PDHA1):c.292-16C>T
NM_000284.4(PDHA1):c.292-7A>G rs2147175965
NM_000284.4(PDHA1):c.292-8T>A
NM_000284.4(PDHA1):c.292-9C>T rs371532584
NM_000284.4(PDHA1):c.294A>G (p.Glu98=)
NM_000284.4(PDHA1):c.300C>T (p.Cys100=)
NM_000284.4(PDHA1):c.306G>T (p.Val102=) rs2063161583
NM_000284.4(PDHA1):c.321C>T (p.Gly107=)
NM_000284.4(PDHA1):c.330C>T (p.Pro110=) rs2147176033
NM_000284.4(PDHA1):c.336C>T (p.Asp112=) rs1294663884
NM_000284.4(PDHA1):c.345C>T (p.Ile115=) rs997748901
NM_000284.4(PDHA1):c.354C>T (p.Tyr118=)
NM_000284.4(PDHA1):c.375C>T (p.Phe125=) rs2063162028
NM_000284.4(PDHA1):c.405C>T (p.Leu135=)
NM_000284.4(PDHA1):c.418+8G>C
NM_000284.4(PDHA1):c.419-20G>A
NM_000284.4(PDHA1):c.419-20G>C
NM_000284.4(PDHA1):c.435T>C (p.Cys145=) rs1268555913
NM_000284.4(PDHA1):c.444G>A (p.Gly148=)
NM_000284.4(PDHA1):c.456G>A (p.Ser152=) rs1358837850
NM_000284.4(PDHA1):c.501G>C (p.Val167=) rs2147178257
NM_000284.4(PDHA1):c.510+13G>A
NM_000284.4(PDHA1):c.510+18T>C
NM_000284.4(PDHA1):c.511-12C>T
NM_000284.4(PDHA1):c.511-19C>T
NM_000284.4(PDHA1):c.511-5G>A rs2063182597
NM_000284.4(PDHA1):c.511-6_511-3dup rs2147179692
NM_000284.4(PDHA1):c.516C>T (p.Pro172=)
NM_000284.4(PDHA1):c.534T>C (p.Ala178=)
NM_000284.4(PDHA1):c.54G>A (p.Lys18=) rs1383593536
NM_000284.4(PDHA1):c.552T>C (p.Asn184=)
NM_000284.4(PDHA1):c.558A>G (p.Lys186=) rs2147179763
NM_000284.4(PDHA1):c.567C>G (p.Val189=)
NM_000284.4(PDHA1):c.57+11C>G rs1381469880
NM_000284.4(PDHA1):c.57+16C>T
NM_000284.4(PDHA1):c.57+17G>A
NM_000284.4(PDHA1):c.57+17G>C
NM_000284.4(PDHA1):c.57+7C>T
NM_000284.4(PDHA1):c.57+8C>A
NM_000284.4(PDHA1):c.579A>G (p.Leu193=) rs2147179786
NM_000284.4(PDHA1):c.58-4T>A
NM_000284.4(PDHA1):c.58-4T>C rs2147174061
NM_000284.4(PDHA1):c.58-8C>T
NM_000284.4(PDHA1):c.603+8T>G
NM_000284.4(PDHA1):c.603+9G>A
NM_000284.4(PDHA1):c.604-14G>C
NM_000284.4(PDHA1):c.604-14G>T
NM_000284.4(PDHA1):c.604-15C>G
NM_000284.4(PDHA1):c.604-19T>G
NM_000284.4(PDHA1):c.604-4C>G
NM_000284.4(PDHA1):c.604-8A>G rs2147180716
NM_000284.4(PDHA1):c.606C>A (p.Gly202=)
NM_000284.4(PDHA1):c.615C>T (p.Phe205=)
NM_000284.4(PDHA1):c.639G>A (p.Leu213=) rs2147180760
NM_000284.4(PDHA1):c.645A>G (p.Lys215=)
NM_000284.4(PDHA1):c.672T>C (p.Asn224=) rs2147180826
NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)
NM_000284.4(PDHA1):c.693G>C (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.693G>T (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.696T>A (p.Ser232=)
NM_000284.4(PDHA1):c.708G>C (p.Ala236=) rs750307419
NM_000284.4(PDHA1):c.708G>T (p.Ala236=) rs750307419
NM_000284.4(PDHA1):c.717C>T (p.Ser239=)
NM_000284.4(PDHA1):c.729C>T (p.Tyr243=) rs2147180937
NM_000284.4(PDHA1):c.732G>A (p.Lys244=) rs2147180959
NM_000284.4(PDHA1):c.756G>C (p.Leu252=) rs768600287
NM_000284.4(PDHA1):c.759+11C>G
NM_000284.4(PDHA1):c.759+26GGCCAA[5]
NM_000284.4(PDHA1):c.759+8C>T rs1251981151
NM_000284.4(PDHA1):c.759+9del rs1602227706
NM_000284.4(PDHA1):c.760-11T>C
NM_000284.4(PDHA1):c.760-12_760-9dup
NM_000284.4(PDHA1):c.760-13T>C
NM_000284.4(PDHA1):c.760-13T>G
NM_000284.4(PDHA1):c.760-15C>G
NM_000284.4(PDHA1):c.760-18T>G
NM_000284.4(PDHA1):c.760-19C>A
NM_000284.4(PDHA1):c.760-19C>T
NM_000284.4(PDHA1):c.760-5A>T
NM_000284.4(PDHA1):c.760-8_760-5dup
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) rs1602227938
NM_000284.4(PDHA1):c.778C>T (p.Leu260=)
NM_000284.4(PDHA1):c.780G>C (p.Leu260=)
NM_000284.4(PDHA1):c.783C>T (p.Cys261=) rs1569191865
NM_000284.4(PDHA1):c.807T>C (p.Ala269=) rs2063192689
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) rs1602228001
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=) rs2147181545
NM_000284.4(PDHA1):c.828G>A (p.Gly276=) rs2147181559
NM_000284.4(PDHA1):c.831+16C>T
NM_000284.4(PDHA1):c.831+18T>G
NM_000284.4(PDHA1):c.831+7C>T
NM_000284.4(PDHA1):c.831+8T>G rs2147181572
NM_000284.4(PDHA1):c.832-14C>G
NM_000284.4(PDHA1):c.832-6T>C rs2063212957
NM_000284.4(PDHA1):c.832-7_832-4dup
NM_000284.4(PDHA1):c.832-9_832-8del
NM_000284.4(PDHA1):c.837C>T (p.Pro279=)
NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)
NM_000284.4(PDHA1):c.852G>T (p.Leu284=)
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=) rs1057521179
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=) rs1418512491
NM_000284.4(PDHA1):c.891T>C (p.Pro297=) rs2147184530
NM_000284.4(PDHA1):c.899+15A>C
NM_000284.4(PDHA1):c.899+15A>G
NM_000284.4(PDHA1):c.899+9A>C rs751604605
NM_000284.4(PDHA1):c.899+9A>G rs751604605
NM_000284.4(PDHA1):c.900-10C>T rs370163447
NM_000284.4(PDHA1):c.900-10del
NM_000284.4(PDHA1):c.900-16T>C
NM_000284.4(PDHA1):c.900-18_900-15dup
NM_000284.4(PDHA1):c.900-4A>C rs1262041210
NM_000284.4(PDHA1):c.900-4A>G
NM_000284.4(PDHA1):c.960C>T (p.Leu320=)
NM_000284.4(PDHA1):c.966C>T (p.Asp322=)
NM_000284.4(PDHA1):c.978C>T (p.Asn326=) rs779045292
NM_000284.4(PDHA1):c.990C>T (p.Ala330=)
NM_000925.4(PDHB):c.1008G>A (p.Lys336=) rs751210948
NM_000925.4(PDHB):c.1035G>A (p.Gln345=) rs987571203
NM_000925.4(PDHB):c.1053T>C (p.Phe351=)
NM_000925.4(PDHB):c.1065A>G (p.Lys355=)
NM_000925.4(PDHB):c.1068A>T (p.Thr356=)
NM_000925.4(PDHB):c.1074T>C (p.Asn358=)
NM_000925.4(PDHB):c.114T>C (p.Ala38=)
NM_000925.4(PDHB):c.135G>A (p.Glu45=)
NM_000925.4(PDHB):c.138G>A (p.Glu46=)
NM_000925.4(PDHB):c.141G>A (p.Leu47=)
NM_000925.4(PDHB):c.156G>A (p.Lys52=) rs2107941218
NM_000925.4(PDHB):c.15T>A (p.Ser5=) rs775907917
NM_000925.4(PDHB):c.15T>G (p.Ser5=)
NM_000925.4(PDHB):c.177A>G (p.Glu59=)
NM_000925.4(PDHB):c.183C>T (p.Ala61=) rs1263419219
NM_000925.4(PDHB):c.198A>C (p.Ala66=)
NM_000925.4(PDHB):c.201C>T (p.Tyr67=)
NM_000925.4(PDHB):c.204+10A>C
NM_000925.4(PDHB):c.204+10A>G
NM_000925.4(PDHB):c.204+14A>G
NM_000925.4(PDHB):c.204+15T>G
NM_000925.4(PDHB):c.204+17A>G
NM_000925.4(PDHB):c.204+9A>G
NM_000925.4(PDHB):c.205-14A>T
NM_000925.4(PDHB):c.205-16C>A
NM_000925.4(PDHB):c.205-4G>C
NM_000925.4(PDHB):c.205-4G>T rs2107941065
NM_000925.4(PDHB):c.205-6T>C
NM_000925.4(PDHB):c.205-8A>C rs2107941071
NM_000925.4(PDHB):c.205-8A>G
NM_000925.4(PDHB):c.205-9T>C rs1560188386
NM_000925.4(PDHB):c.237C>T (p.Asp79=)
NM_000925.4(PDHB):c.243G>A (p.Arg81=)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.24G>A (p.Val8=) rs776938446
NM_000925.4(PDHB):c.255T>C (p.Thr85=) rs2107940972
NM_000925.4(PDHB):c.261A>T (p.Ile87=)
NM_000925.4(PDHB):c.267+16G>A
NM_000925.4(PDHB):c.267+19A>G
NM_000925.4(PDHB):c.267+8T>A
NM_000925.4(PDHB):c.268-16A>G
NM_000925.4(PDHB):c.268-7T>C rs2107940828
NM_000925.4(PDHB):c.273C>T (p.Gly91=)
NM_000925.4(PDHB):c.27G>A (p.Arg9=)
NM_000925.4(PDHB):c.27G>C (p.Arg9=)
NM_000925.4(PDHB):c.27G>T (p.Arg9=) rs1576959597
NM_000925.4(PDHB):c.303+12T>A
NM_000925.4(PDHB):c.303+13C>G
NM_000925.4(PDHB):c.303+9T>C
NM_000925.4(PDHB):c.304-10G>T rs1349270970
NM_000925.4(PDHB):c.304-14T>A
NM_000925.4(PDHB):c.304-16G>A
NM_000925.4(PDHB):c.304-17C>T
NM_000925.4(PDHB):c.304-5T>C rs2107939861
NM_000925.4(PDHB):c.304-8T>C rs2107939867
NM_000925.4(PDHB):c.304-8dup rs781682337
NM_000925.4(PDHB):c.304-9A>C
NM_000925.4(PDHB):c.306T>C (p.Ala102=) rs2107939849
NM_000925.4(PDHB):c.309G>A (p.Gly103=) rs773743155
NM_000925.4(PDHB):c.309G>T (p.Gly103=)
NM_000925.4(PDHB):c.30A>G (p.Arg10=) rs2107943891
NM_000925.4(PDHB):c.315G>A (p.Arg105=)
NM_000925.4(PDHB):c.336C>T (p.Thr112=) rs2107939787
NM_000925.4(PDHB):c.339C>T (p.Phe113=)
NM_000925.4(PDHB):c.33C>T (p.Pro11=) rs771813233
NM_000925.4(PDHB):c.342T>C (p.Asn114=)
NM_000925.4(PDHB):c.375C>T (p.Asn125=)
NM_000925.4(PDHB):c.381T>C (p.Ala127=) rs2062913707
NM_000925.4(PDHB):c.390C>G (p.Thr130=)
NM_000925.4(PDHB):c.396C>T (p.Tyr132=) rs2107939689
NM_000925.4(PDHB):c.39G>A (p.Arg13=)
NM_000925.4(PDHB):c.39G>T (p.Arg13=)
NM_000925.4(PDHB):c.402T>G (p.Ser134=) rs2107939677
NM_000925.4(PDHB):c.408C>T (p.Gly136=)
NM_000925.4(PDHB):c.411T>C (p.Leu137=)
NM_000925.4(PDHB):c.42+11G>A
NM_000925.4(PDHB):c.42+14C>G
NM_000925.4(PDHB):c.42+14C>T
NM_000925.4(PDHB):c.42+18G>A
NM_000925.4(PDHB):c.42+19C>T
NM_000925.4(PDHB):c.42+20C>G
NM_000925.4(PDHB):c.42+7A>G rs2062944921
NM_000925.4(PDHB):c.42+9C>G rs755756637
NM_000925.4(PDHB):c.42+9C>T rs755756637
NM_000925.4(PDHB):c.43-11C>T
NM_000925.4(PDHB):c.43-12T>C
NM_000925.4(PDHB):c.43-7C>T
NM_000925.4(PDHB):c.438G>C (p.Gly146=) rs1126551
NM_000925.4(PDHB):c.438G>T (p.Gly146=)
NM_000925.4(PDHB):c.441C>T (p.Pro147=)
NM_000925.4(PDHB):c.444T>C (p.Asn148=) rs2107939589
NM_000925.4(PDHB):c.450C>T (p.Ala150=) rs2107939582
NM_000925.4(PDHB):c.465T>C (p.Ala155=)
NM_000925.4(PDHB):c.474C>T (p.His158=)
NM_000925.4(PDHB):c.480G>A (p.Gln160=)
NM_000925.4(PDHB):c.483C>T (p.Cys161=)
NM_000925.4(PDHB):c.489T>C (p.Ala163=)
NM_000925.4(PDHB):c.519G>A (p.Lys173=)
NM_000925.4(PDHB):c.531C>T (p.Pro177=)
NM_000925.4(PDHB):c.549T>C (p.Ala183=) rs2107939461
NM_000925.4(PDHB):c.570C>T (p.Ala190=)
NM_000925.4(PDHB):c.573T>C (p.Ile191=) rs2107939438
NM_000925.4(PDHB):c.582C>T (p.Asn194=) rs994015584
NM_000925.4(PDHB):c.589+11G>A
NM_000925.4(PDHB):c.589+14C>T
NM_000925.4(PDHB):c.589+7A>G rs762964497
NM_000925.4(PDHB):c.589+8C>G rs2107939394
NM_000925.4(PDHB):c.589+9A>C
NM_000925.4(PDHB):c.589+9A>G rs2107939389
NM_000925.4(PDHB):c.590-11A>G
NM_000925.4(PDHB):c.590-11_590-10del rs1179603141
NM_000925.4(PDHB):c.590-12T>A
NM_000925.4(PDHB):c.590-9G>A
NM_000925.4(PDHB):c.597G>A (p.Val199=)
NM_000925.4(PDHB):c.600A>G (p.Leu200=)
NM_000925.4(PDHB):c.621G>A (p.Gly207=) rs2062908611
NM_000925.4(PDHB):c.627T>C (p.Pro209=)
NM_000925.4(PDHB):c.627T>G (p.Pro209=)
NM_000925.4(PDHB):c.675T>A (p.Ile225=)
NM_000925.4(PDHB):c.696G>A (p.Arg232=) rs2107938811
NM_000925.4(PDHB):c.6G>A (p.Ala2=) rs1203148983
NM_000925.4(PDHB):c.6G>C (p.Ala2=)
NM_000925.4(PDHB):c.700+17A>T rs754519817
NM_000925.4(PDHB):c.700+18T>C
NM_000925.4(PDHB):c.701-10C>G
NM_000925.4(PDHB):c.701-8G>A rs370346593
NM_000925.4(PDHB):c.708T>C (p.His236=) rs2107938396
NM_000925.4(PDHB):c.717G>C (p.Val239=) rs1576956301
NM_000925.4(PDHB):c.730A>C (p.Arg244=)
NM_000925.4(PDHB):c.741C>T (p.Gly247=)
NM_000925.4(PDHB):c.768A>G (p.Leu256=) rs2062903975
NM_000925.4(PDHB):c.78C>A (p.Thr26=)
NM_000925.4(PDHB):c.792+13T>C
NM_000925.4(PDHB):c.792+18T>C
NM_000925.4(PDHB):c.792+19_792+24del
NM_000925.4(PDHB):c.792+9A>G rs762944918
NM_000925.4(PDHB):c.793-10_793-7dup rs2062893900
NM_000925.4(PDHB):c.793-13A>G
NM_000925.4(PDHB):c.793-15A>G
NM_000925.4(PDHB):c.793-16T>C
NM_000925.4(PDHB):c.793-16T>G
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.793-19_793-16del
NM_000925.4(PDHB):c.810C>T (p.Thr270=) rs1444305170
NM_000925.4(PDHB):c.825C>T (p.Asp275=)
NM_000925.4(PDHB):c.840A>G (p.Glu280=)
NM_000925.4(PDHB):c.861T>C (p.Asn287=) rs1237030552
NM_000925.4(PDHB):c.885C>G (p.Gly295=) rs763844372
NM_000925.4(PDHB):c.906A>G (p.Gly302=)
NM_000925.4(PDHB):c.90G>A (p.Ala30=) rs2107943592
NM_000925.4(PDHB):c.927C>T (p.Ile309=)
NM_000925.4(PDHB):c.934+11G>T
NM_000925.4(PDHB):c.935-14CTTC[3]
NM_000925.4(PDHB):c.935-17A>G
NM_000925.4(PDHB):c.935-17del
NM_000925.4(PDHB):c.935-4C>T
NM_000925.4(PDHB):c.935-5C>A rs1418680590
NM_000925.4(PDHB):c.935-5C>G rs1418680590
NM_000925.4(PDHB):c.935-5C>T rs1418680590
NM_000925.4(PDHB):c.935-7C>T rs2107936427
NM_000925.4(PDHB):c.935-9T>C rs935875454
NM_000925.4(PDHB):c.939T>C (p.Pro313=) rs1576955073
NM_000925.4(PDHB):c.93G>A (p.Leu31=)
NM_000925.4(PDHB):c.945C>T (p.Phe315=)
NM_000925.4(PDHB):c.951C>T (p.Phe317=)
NM_000925.4(PDHB):c.952C>T (p.Leu318=)
NM_000925.4(PDHB):c.954G>C (p.Leu318=) rs1576955034
NM_000925.4(PDHB):c.954G>T (p.Leu318=) rs1576955034
NM_000925.4(PDHB):c.96+10G>C rs755528489
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_000925.4(PDHB):c.96+12G>C rs773433623
NM_000925.4(PDHB):c.96+13G>A
NM_000925.4(PDHB):c.96+13G>T
NM_000925.4(PDHB):c.96+14G>T
NM_000925.4(PDHB):c.96+17C>T
NM_000925.4(PDHB):c.96+19C>G
NM_000925.4(PDHB):c.96+19C>T
NM_000925.4(PDHB):c.96+8G>T rs2062943444
NM_000925.4(PDHB):c.96+9C>G
NM_000925.4(PDHB):c.97-10C>T rs2107941338
NM_000925.4(PDHB):c.97-13A>G
NM_000925.4(PDHB):c.97-4A>T rs2107941318
NM_000925.4(PDHB):c.97-7G>C rs2107941329
NM_000925.4(PDHB):c.97-8T>C
NM_000925.4(PDHB):c.975C>A (p.Val325=)
NM_000925.4(PDHB):c.975C>T (p.Val325=)
NM_000925.4(PDHB):c.984T>C (p.Ala328=)
NM_000925.4(PDHB):c.990C>T (p.Val330=) rs267599918
NM_000925.4(PDHB):c.99G>A (p.Val33=) rs2107941297
NM_000925.4(PDHB):c.99G>T (p.Val33=)
NM_000925.4(PDHB):c.9G>T (p.Ala3=)
NM_001931.5(DLAT):c.1129+9G>A
NM_001931.5(DLAT):c.1146T>A (p.Gly382=)
NM_001931.5(DLAT):c.1197+11T>A
NM_001931.5(DLAT):c.1197+17T>A rs2137783179
NM_001931.5(DLAT):c.1197+20T>C rs2137783207
NM_001931.5(DLAT):c.1287T>G (p.Arg429=)
NM_001931.5(DLAT):c.1291-10T>C
NM_001931.5(DLAT):c.1291-8G>C
NM_001931.5(DLAT):c.132T>G (p.Arg44=)
NM_001931.5(DLAT):c.1350C>T (p.Ile450=) rs587724011
NM_001931.5(DLAT):c.1353T>C (p.Asp451=)
NM_001931.5(DLAT):c.1368A>G (p.Glu456=)
NM_001931.5(DLAT):c.1399-20A>C
NM_001931.5(DLAT):c.144G>A (p.Val48=) rs367745211
NM_001931.5(DLAT):c.1515-7T>A
NM_001931.5(DLAT):c.1542G>C (p.Ala514=) rs587652725
NM_001931.5(DLAT):c.158G>T (p.Gly53Val)
NM_001931.5(DLAT):c.1677+21_1677+24del
NM_001931.5(DLAT):c.1677+9T>C
NM_001931.5(DLAT):c.1695C>A (p.Ile565=)
NM_001931.5(DLAT):c.1851T>C (p.Ser617=)
NM_001931.5(DLAT):c.222G>A (p.Leu74=)
NM_001931.5(DLAT):c.279+18C>T
NM_001931.5(DLAT):c.280-15C>T rs782149548
NM_001931.5(DLAT):c.306A>G (p.Thr102=) rs2137678633
NM_001931.5(DLAT):c.342A>G (p.Lys114=)
NM_001931.5(DLAT):c.372A>C (p.Leu124=) rs1861999426
NM_001931.5(DLAT):c.381+7T>A rs1165421307
NM_001931.5(DLAT):c.382-16C>T
NM_001931.5(DLAT):c.382-19C>G
NM_001931.5(DLAT):c.417C>T (p.Ser139=) rs2137698040
NM_001931.5(DLAT):c.486C>G (p.Ile162Met)
NM_001931.5(DLAT):c.489C>T (p.Ile163=)
NM_001931.5(DLAT):c.507-12T>G rs2137699407
NM_001931.5(DLAT):c.507-16T>A
NM_001931.5(DLAT):c.510T>A (p.Pro170=) rs367605727
NM_001931.5(DLAT):c.54C>A (p.Leu18=) rs1286345918
NM_001931.5(DLAT):c.588C>A (p.Thr196=)
NM_001931.5(DLAT):c.660+19G>C
NM_001931.5(DLAT):c.661-6C>T
NM_001931.5(DLAT):c.675C>A (p.Ala225=)
NM_001931.5(DLAT):c.735G>A (p.Lys245=)
NM_001931.5(DLAT):c.788-20_788-18del
NM_001931.5(DLAT):c.810T>G (p.Gly270=)
NM_001931.5(DLAT):c.891G>A (p.Glu297=)
NM_001931.5(DLAT):c.921G>A (p.Arg307=) rs1555180610
NM_001931.5(DLAT):c.953_954inv (p.Val318Ala)
NM_001931.5(DLAT):c.957A>G (p.Pro319=)
NM_001931.5(DLAT):c.975+13C>T rs2137754185
NM_001931.5(DLAT):c.975+15_975+16delinsGT rs2137754230
NM_001931.5(DLAT):c.976-13T>G
NM_001931.5(DLAT):c.976-15A>T rs1555180789
NM_001931.5(DLAT):c.976-2del rs781853215
NM_001931.5(DLAT):c.9C>T (p.Arg3=)
NM_006859.4(LIAS):c.1023T>C (p.His341=)
NM_006859.4(LIAS):c.1041T>C (p.Pro347=)
NM_006859.4(LIAS):c.105A>G (p.Lys35=) rs2109867811
NM_006859.4(LIAS):c.1065A>T (p.Ala355=) rs765479168
NM_006859.4(LIAS):c.1066+12T>C
NM_006859.4(LIAS):c.1066+16G>A
NM_006859.4(LIAS):c.1066+18G>T
NM_006859.4(LIAS):c.1066+19C>T
NM_006859.4(LIAS):c.1067-11T>C rs1315541765
NM_006859.4(LIAS):c.1067-15C>G
NM_006859.4(LIAS):c.1068T>G (p.Gly356=)
NM_006859.4(LIAS):c.1098A>G (p.Lys366=)
NM_006859.4(LIAS):c.1113C>T (p.Asp371=)
NM_006859.4(LIAS):c.1118A>G (p.Ter373=)
NM_006859.4(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.4(LIAS):c.120G>A (p.Gln40=)
NM_006859.4(LIAS):c.141T>C (p.Asp47=)
NM_006859.4(LIAS):c.144T>C (p.Phe48=) rs745864982
NM_006859.4(LIAS):c.147A>G (p.Val49=)
NM_006859.4(LIAS):c.166A>C (p.Arg56=)
NM_006859.4(LIAS):c.196C>T (p.Leu66=)
NM_006859.4(LIAS):c.218+14T>A
NM_006859.4(LIAS):c.218+15G>A
NM_006859.4(LIAS):c.218+19T>C
NM_006859.4(LIAS):c.218+7_218+13dup
NM_006859.4(LIAS):c.219-6C>T
NM_006859.4(LIAS):c.21T>C (p.Asp7=)
NM_006859.4(LIAS):c.231T>C (p.Pro77=)
NM_006859.4(LIAS):c.291G>A (p.Leu97=)
NM_006859.4(LIAS):c.292C>A (p.Arg98=)
NM_006859.4(LIAS):c.312+15T>A
NM_006859.4(LIAS):c.312+17T>G rs1744546093
NM_006859.4(LIAS):c.312+8G>T
NM_006859.4(LIAS):c.313-12T>G rs2109872778
NM_006859.4(LIAS):c.313-14C>T
NM_006859.4(LIAS):c.313-19C>T
NM_006859.4(LIAS):c.313-6A>G
NM_006859.4(LIAS):c.313-7C>T
NM_006859.4(LIAS):c.315A>G (p.Val105=)
NM_006859.4(LIAS):c.342T>C (p.Ile114=)
NM_006859.4(LIAS):c.393+17C>T
NM_006859.4(LIAS):c.393+20C>G
NM_006859.4(LIAS):c.393+7C>A rs372423537
NM_006859.4(LIAS):c.420T>C (p.Gly140=)
NM_006859.4(LIAS):c.45+10G>A
NM_006859.4(LIAS):c.45+12G>A
NM_006859.4(LIAS):c.45+18C>T
NM_006859.4(LIAS):c.45+19G>T
NM_006859.4(LIAS):c.45+20G>T rs1424759183
NM_006859.4(LIAS):c.45+7G>A rs1263617011
NM_006859.4(LIAS):c.46-13A>T
NM_006859.4(LIAS):c.46-17A>G rs2109867537
NM_006859.4(LIAS):c.46-5T>C rs764526355
NM_006859.4(LIAS):c.462A>C (p.Pro154=) rs924459280
NM_006859.4(LIAS):c.465G>C (p.Leu155=)
NM_006859.4(LIAS):c.54G>A (p.Gly18=)
NM_006859.4(LIAS):c.550+11C>T
NM_006859.4(LIAS):c.550+12A>G
NM_006859.4(LIAS):c.550+16T>C
NM_006859.4(LIAS):c.550+9G>A rs1744712599
NM_006859.4(LIAS):c.551-16A>T
NM_006859.4(LIAS):c.551-19T>C rs2109875645
NM_006859.4(LIAS):c.588C>T (p.Thr196=)
NM_006859.4(LIAS):c.597T>C (p.Tyr199=) rs2109875753
NM_006859.4(LIAS):c.600A>G (p.Leu200=)
NM_006859.4(LIAS):c.608+7A>C
NM_006859.4(LIAS):c.609-13C>T
NM_006859.4(LIAS):c.609-6C>T rs1744804569
NM_006859.4(LIAS):c.615A>G (p.Pro205=)
NM_006859.4(LIAS):c.705A>C (p.Ala235=) rs111583368
NM_006859.4(LIAS):c.714A>G (p.Val238=)
NM_006859.4(LIAS):c.723C>A (p.Val241=) rs1029290249
NM_006859.4(LIAS):c.737+20A>T
NM_006859.4(LIAS):c.737+6dup
NM_006859.4(LIAS):c.738-14C>T
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) rs773069554
NM_006859.4(LIAS):c.7C>T (p.Leu3=) rs1553933562
NM_006859.4(LIAS):c.801G>A (p.Lys267=)
NM_006859.4(LIAS):c.834A>C (p.Ile278=)
NM_006859.4(LIAS):c.838T>C (p.Leu280=)
NM_006859.4(LIAS):c.849C>A (p.Gly283=) rs146030265
NM_006859.4(LIAS):c.883+10T>C
NM_006859.4(LIAS):c.883+15A>T
NM_006859.4(LIAS):c.883+15_883+56del rs1368518925
NM_006859.4(LIAS):c.900T>C (p.Asp300=) rs958145023
NM_006859.4(LIAS):c.924A>G (p.Gln308=)
NM_006859.4(LIAS):c.93G>A (p.Leu31=)
NM_006859.4(LIAS):c.954+11C>A
NM_006859.4(LIAS):c.954+18dup
NM_006859.4(LIAS):c.954+20C>G
NM_006859.4(LIAS):c.954+20C>T rs918706580
NM_006859.4(LIAS):c.954+8T>C
NM_006859.4(LIAS):c.954+9A>G
NM_006859.4(LIAS):c.955-11T>C
NM_006859.4(LIAS):c.955-13T>G rs755822707
NM_006859.4(LIAS):c.955-4C>G rs2109887808
NM_006859.4(LIAS):c.955-7A>T
NM_006859.4(LIAS):c.963A>G (p.Glu321=)
NM_006859.4(LIAS):c.975T>C (p.Pro325=)

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