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.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.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
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NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
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NM_000284.4(PDHA1):c.918_927dup (p.Val310fs)
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rs2063232292
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NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)
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rs1555935223
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NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
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NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
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rs606231185
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NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)
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rs1602231539
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NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)
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rs863224153
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|
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs)
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rs137853251
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|
NM_000284.4(PDHA1):c.938_940del (p.Lys313del)
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rs137853251
|
|
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)
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rs137853256
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|
NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)
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|
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NM_000284.4(PDHA1):c.949_952dup (p.Met318fs)
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rs2063232824
|
|
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
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|
|
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)
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|
|
NM_000284.4(PDHA1):c.960C>T (p.Leu320=)
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|
|
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
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rs2063233021
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|
NM_000284.4(PDHA1):c.966C>T (p.Asp322=)
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|
|
NM_000284.4(PDHA1):c.978C>T (p.Asn326=)
|
rs779045292
|
|
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
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|
|
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)
|
|
|
NM_000284.4(PDHA1):c.990C>T (p.Ala330=)
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|
|
NM_000284.4(PDHA1):c.991_1003dup (p.Leu335fs)
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|
|
NM_000284.4(PDHA1):c.998_1008+20dup
|
rs2063233544
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