ClinVar Miner

List of variants in gene PDHA1 studied for Pyruvate dehydrogenase E1-alpha deficiency

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Gene type:
ClinVar version:
Total variants: 435
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_000284.4(PDHA1):c.510+12C>T rs201869402 0.00312
NM_000284.4(PDHA1):c.-98C>T rs192773464 0.00187
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_000284.4(PDHA1):c.*349A>G rs1013526559 0.00092
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_000284.4(PDHA1):c.*321C>T rs886566327 0.00061
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000284.4(PDHA1):c.899+12G>A rs376730441 0.00036
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838 0.00032
NM_000284.4(PDHA1):c.117+19T>A rs373859720 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000284.4(PDHA1):c.-79C>T rs942040058 0.00024
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=) rs369973813 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000284.4(PDHA1):c.899+18G>A rs370785632 0.00022
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000284.4(PDHA1):c.1008+7T>G rs768994523 0.00014
NM_000284.4(PDHA1):c.57+6A>T rs375415868 0.00014
NM_000284.4(PDHA1):c.292-5C>T rs191666624 0.00013
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654 0.00012
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886 0.00012
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618 0.00011
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319 0.00010
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613 0.00009
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln) rs144967854 0.00008
NM_000284.4(PDHA1):c.418+8G>A rs779583146 0.00008
NM_000284.4(PDHA1):c.708G>A (p.Ala236=) rs750307419 0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=) rs773338429 0.00007
NM_000284.4(PDHA1):c.217C>A (p.Arg73=) rs761538559 0.00007
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832 0.00006
NM_000284.4(PDHA1):c.1009-9A>C rs372177460 0.00005
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu) rs759331650 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930 0.00004
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.390C>T (p.Ser130=) rs756138817 0.00003
NM_000284.4(PDHA1):c.42C>T (p.Gly14=) rs778260543 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000284.4(PDHA1):c.899+8C>T rs766362480 0.00003
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.327C>T (p.Asn109=) rs772943333 0.00002
NM_000284.4(PDHA1):c.663C>T (p.Ile221=) rs929262350 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000284.4(PDHA1):c.810T>G (p.Ala270=) rs763733376 0.00002
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg) rs373275701 0.00002
NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser) rs758465753 0.00002
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys) rs1269552788 0.00001
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=) rs749696135 0.00001
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn) rs770669838 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.292-11C>T rs776535833 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.522C>T (p.Gly174=) rs769308417 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+10T>C rs1471723235 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_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768 0.00001
NC_000023.10:g.(?_19368035)_(19377771_?)dup
NM_000284.4(PDHA1):c.*10_*12del rs752082232
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*198G>A rs1003909173
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=) rs764728647
NM_000284.4(PDHA1):c.*79_*90dup rs1555935690
NM_000284.4(PDHA1):c.1008+17A>G
NM_000284.4(PDHA1):c.1008+18T>C
NM_000284.4(PDHA1):c.1008+4C>T
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.1009-16_1010del rs2147188973
NM_000284.4(PDHA1):c.1009-17_1009-12del
NM_000284.4(PDHA1):c.1009-17_1009-14dup rs1569193999
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_1009-15del
NM_000284.4(PDHA1):c.1009-31_1009-7del rs1569193972
NM_000284.4(PDHA1):c.1009-9_1009-6dup
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys) rs2063244761
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)
NM_000284.4(PDHA1):c.1026G>A (p.Val342=)
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg) rs1244401639
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs) rs2063245185
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=) rs2147189069
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.1050C>T (p.Ala350=) rs2147189097
NM_000284.4(PDHA1):c.105A>G (p.Thr35=)
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup) rs606231191
NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter) rs2063246734
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) rs1602232961
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu) rs1131691584
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.1125_1145dup (p.Asn381_Gln382insHisGluValArgGlyAlaAsn)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs) rs2147189315
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val) rs2147189334
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)
NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=) rs767675495
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)
NM_000284.4(PDHA1):c.117+15A>G
NM_000284.4(PDHA1):c.117+17T>G
NM_000284.4(PDHA1):c.117+7G>A rs1232550777
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.118-13T>A
NM_000284.4(PDHA1):c.118-8C>A rs774137227
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)
NM_000284.4(PDHA1):c.133delinsATTTCTGGG (p.Arg45fs)
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.194A>C (p.Tyr65Ser)
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
NM_000284.4(PDHA1):c.196A>C (p.Arg66=)
NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.21C>G (p.Ala7=)
NM_000284.4(PDHA1):c.225G>A (p.Glu75=) rs1569190079
NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn) rs2147174771
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)
NM_000284.4(PDHA1):c.240G>A (p.Gln80=) rs1602223831
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.270C>T (p.Phe90=) rs2147174805
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.291+8G>A rs1022434857
NM_000284.4(PDHA1):c.292-16C>T
NM_000284.4(PDHA1):c.292-1G>A rs863224149
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.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.300C>T (p.Cys100=)
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
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.335_349del (p.Asp112_Thr116del)
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.355C>T (p.Arg119Trp) rs2147176072
NM_000284.4(PDHA1):c.375C>T (p.Phe125=) rs2063162028
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)
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.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.435T>C (p.Cys145=) rs1268555913
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.456G>A (p.Ser152=) rs1358837850
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
NM_000284.4(PDHA1):c.46del (p.Ser16fs) rs2147168716
NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.498C>T (p.Ile166=) rs2147178249
NM_000284.4(PDHA1):c.499G>C (p.Val167Leu) rs2063174067
NM_000284.4(PDHA1):c.501G>C (p.Val167=) rs2147178257
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
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.511G>A (p.Val171Met)
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)
NM_000284.4(PDHA1):c.516C>T (p.Pro172=)
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met) rs2063182775
NM_000284.4(PDHA1):c.534T>C (p.Ala178=)
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro) rs1555934165
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys) rs2147179754
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+2505C>G
NM_000284.4(PDHA1):c.57+2531T>C rs2063135938
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.58-18A>C
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
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>A rs377192586
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.613T>C (p.Phe205Leu)
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.615C>T (p.Phe205=)
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter) rs2147180742
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) rs794727843
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile) rs2147180753
NM_000284.4(PDHA1):c.639G>A (p.Leu213=) rs2147180760
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.645A>G (p.Lys215=)
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.66_67del (p.Arg22fs)
NM_000284.4(PDHA1):c.672T>C (p.Asn224=) rs2147180826
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His) rs2147180839
NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu) rs2147180851
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile) rs2063189233
NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)
NM_000284.4(PDHA1):c.689G>C (p.Gly230Ala)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
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.707C>T (p.Ala236Val) rs863224145
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.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys) rs2147180935
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.734G>C (p.Arg245Thr)
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.756G>C (p.Leu252=) rs768600287
NM_000284.4(PDHA1):c.759+11C>G
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
NM_000284.4(PDHA1):c.759+21dup
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[5]
NM_000284.4(PDHA1):c.759+34_759+45del rs11278403
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.760-14_760-13del
NM_000284.4(PDHA1):c.760-14dup
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.766G>A (p.Gly256Arg)
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
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.784G>T (p.Val262Phe)
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter) rs137853259
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
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.821G>C (p.Arg274Thr) rs2063192867
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
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.832-14C>T
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.832G>A (p.Gly278Arg) rs1057521993
NM_000284.4(PDHA1):c.837C>T (p.Pro279=)
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)
NM_000284.4(PDHA1):c.852G>T (p.Leu284=)
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=) rs1057521179
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys) rs2063213272
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=) rs1418512491
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) rs2147184502
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs) rs2063213396
NM_000284.4(PDHA1):c.891T>C (p.Pro297=) rs2147184530
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs) rs2147184540
NM_000284.4(PDHA1):c.899+15A>C
NM_000284.4(PDHA1):c.899+15A>G
NM_000284.4(PDHA1):c.899+2T>A rs2063213491
NM_000284.4(PDHA1):c.899+2T>C
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.900-12_936dup
NM_000284.4(PDHA1):c.900-16T>C
NM_000284.4(PDHA1):c.900-18_900-14dup
NM_000284.4(PDHA1):c.900-18_900-15dup
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.900-4A>C rs1262041210
NM_000284.4(PDHA1):c.900-4A>G
NM_000284.4(PDHA1):c.900-8C>G
NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer) rs2147187199
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs) rs2063232292
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs) rs2063232824
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)
NM_000284.4(PDHA1):c.960C>T (p.Leu320=)
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup) rs2063233021
NM_000284.4(PDHA1):c.966C>T (p.Asp322=)
NM_000284.4(PDHA1):c.978C>T (p.Asn326=) rs779045292
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)
NM_000284.4(PDHA1):c.990C>T (p.Ala330=)
NM_000284.4(PDHA1):c.991_1003dup (p.Leu335fs)
NM_000284.4(PDHA1):c.998_1008+20dup rs2063233544

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