NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
NM_000284.3(PDHA1):c.-195G>A
|
rs5955750
|
0.24345
|
NM_000284.4(PDHA1):c.511-178G>C
|
rs66727455
|
0.22935
|
NM_000284.4(PDHA1):c.760-15C>A
|
rs7058209
|
0.22904
|
NM_000284.4(PDHA1):c.1009-211T>C
|
rs5955549
|
0.22866
|
NM_000284.4(PDHA1):c.419-249T>C
|
rs5955756
|
0.22833
|
NM_000284.4(PDHA1):c.510+236G>T
|
rs7886893
|
0.22831
|
NM_000284.4(PDHA1):c.1009-23T>C
|
rs5955760
|
0.22827
|
NM_000284.4(PDHA1):c.832-60C>T
|
rs7059233
|
0.22800
|
NM_000284.4(PDHA1):c.831+211C>T
|
rs12353763
|
0.22791
|
NM_000284.4(PDHA1):c.57+2432C>T
|
rs7883320
|
0.22735
|
NC_000023.11:g.19343733G>T
|
rs7059095
|
0.19971
|
NM_000284.4(PDHA1):c.900-339C>T
|
rs5955759
|
0.07082
|
NM_000284.4(PDHA1):c.832-211A>G
|
rs7885618
|
0.04727
|
NM_000284.4(PDHA1):c.291+52C>T
|
rs7890070
|
0.04611
|
NM_000284.4(PDHA1):c.57+2591A>G
|
rs12387382
|
0.03768
|
NM_000284.4(PDHA1):c.-88G>A
|
rs5955751
|
0.03606
|
NM_000284.4(PDHA1):c.58-2558T>A
|
rs12392955
|
0.03581
|
NM_000284.4(PDHA1):c.604-15C>T
|
rs13440874
|
0.03269
|
NM_000284.4(PDHA1):c.58-84C>T
|
rs140575255
|
0.02586
|
NM_000284.4(PDHA1):c.57+2482G>A
|
rs145749914
|
0.02089
|
NM_000284.4(PDHA1):c.118-76G>A
|
rs144420560
|
0.02057
|
NM_000284.4(PDHA1):c.58-260A>C
|
rs151275584
|
0.02049
|
NM_000284.4(PDHA1):c.900-265T>C
|
rs141480332
|
0.01556
|
NM_000284.4(PDHA1):c.57+289T>C
|
rs73453457
|
0.01307
|
NC_000023.11:g.19343829T>C
|
rs187972638
|
0.01175
|
NM_000284.4(PDHA1):c.292-304T>A
|
rs7055605
|
0.01113
|
NM_000284.4(PDHA1):c.510+187C>T
|
rs139638187
|
0.01098
|
NM_000284.4(PDHA1):c.900-283G>A
|
rs138892389
|
0.00911
|
NM_000284.4(PDHA1):c.900-163C>T
|
rs150842150
|
0.00860
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
NM_000284.4(PDHA1):c.832-118A>G
|
rs147808168
|
0.00691
|
NM_000284.4(PDHA1):c.1008+51C>T
|
rs41309591
|
0.00544
|
NM_000284.4(PDHA1):c.57+2160G>A
|
rs149807759
|
0.00422
|
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.291+74C>T
|
rs73453465
|
0.00277
|
NM_000284.4(PDHA1):c.292-59C>T
|
rs186854596
|
0.00238
|
NM_000284.4(PDHA1):c.511-54G>A
|
rs181933291
|
0.00184
|
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.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
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.899+18G>A
|
rs370785632
|
0.00022
|
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)
|
rs202166915
|
0.00018
|
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.1159A>C (p.Lys387Gln)
|
rs201156613
|
0.00009
|
NM_000284.4(PDHA1):c.118-17A>G
|
rs749601456
|
0.00009
|
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)
|
rs138237215
|
0.00005
|
NM_000284.4(PDHA1):c.31G>A (p.Val11Met)
|
rs756973583
|
0.00004
|
NM_000284.4(PDHA1):c.-23G>C
|
rs773557576
|
0.00002
|
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)
|
rs373275701
|
0.00002
|
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys)
|
rs759062849
|
0.00001
|
NM_000284.4(PDHA1):c.900-10C>A
|
rs370163447
|
0.00001
|
NM_000284.4(PDHA1):c.900-17C>T
|
rs1196796985
|
0.00001
|
NC_000023.11:g.19343714del
|
rs11286289
|
|
NM_000284.3(PDHA1):c.1011_1034del
|
|
|
NM_000284.4(PDHA1):c.*10_*12del
|
rs752082232
|
|
NM_000284.4(PDHA1):c.*110C>T
|
rs709610
|
|
NM_000284.4(PDHA1):c.*291_*297del
|
rs200632554
|
|
NM_000284.4(PDHA1):c.1008+117ATAGTTCC[4]
|
rs761758246
|
|
NM_000284.4(PDHA1):c.1008+1_1008+27del
|
rs863224155
|
|
NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly)
|
rs1057523018
|
|
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs)
|
rs1555935473
|
|
NM_000284.4(PDHA1):c.1046C>T (p.Ala349Val)
|
rs1131691952
|
|
NM_000284.4(PDHA1):c.1063G>A (p.Ala355Thr)
|
rs886878369
|
|
NM_000284.4(PDHA1):c.1069C>G (p.Pro357Ala)
|
rs2147189166
|
|
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro)
|
rs1131691584
|
|
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)
|
rs863224147
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter)
|
rs863224156
|
|
NM_000284.4(PDHA1):c.1162_*1del (p.Ser388fs)
|
rs2147189414
|
|
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)
|
rs1555935577
|
|
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)
|
rs762505127
|
|
NM_000284.4(PDHA1):c.147C>T (p.Gly49=)
|
rs1555933449
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)
|
|
|
NM_000284.4(PDHA1):c.263G>A (p.Arg88His)
|
rs2147174790
|
|
NM_000284.4(PDHA1):c.292-1G>A
|
rs863224149
|
|
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro)
|
rs794727621
|
|
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser)
|
rs1555933643
|
|
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys)
|
rs1555933663
|
|
NM_000284.4(PDHA1):c.425A>C (p.Lys142Thr)
|
|
|
NM_000284.4(PDHA1):c.447A>G (p.Lys149=)
|
|
|
NM_000284.4(PDHA1):c.456G>A (p.Ser152=)
|
rs1358837850
|
|
NM_000284.4(PDHA1):c.463A>T (p.Met155Leu)
|
rs863224152
|
|
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>A (p.Val167Met)
|
rs2063174067
|
|
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)
|
rs863224150
|
|
NM_000284.4(PDHA1):c.517C>G (p.Leu173Val)
|
|
|
NM_000284.4(PDHA1):c.523G>T (p.Ala175Ser)
|
|
|
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)
|
rs2147179733
|
|
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)
|
rs2147179754
|
|
NM_000284.4(PDHA1):c.559G>C (p.Asp187His)
|
rs2147179768
|
|
NM_000284.4(PDHA1):c.57+2410dup
|
rs754393427
|
|
NM_000284.4(PDHA1):c.604-14G>A
|
rs377192586
|
|
NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter)
|
rs1569191659
|
|
NM_000284.4(PDHA1):c.643A>G (p.Lys215Glu)
|
|
|
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu)
|
rs1131691792
|
|
NM_000284.4(PDHA1):c.67G>A (p.Val23Met)
|
|
|
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu)
|
rs863224145
|
|
NM_000284.4(PDHA1):c.711_738dup (p.Asp247delinsSerGlnHisTer)
|
rs1602227631
|
|
NM_000284.4(PDHA1):c.724_727dup (p.Tyr243fs)
|
rs1602227643
|
|
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)
|
rs1555934379
|
|
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)
|
rs2063189797
|
|
NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser)
|
rs1064793225
|
|
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val)
|
rs1555934383
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[2]
|
rs11278403
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[4]
|
rs11278403
|
|
NM_000284.4(PDHA1):c.760-1G>T
|
rs886039690
|
|
NM_000284.4(PDHA1):c.760-3C>G
|
|
|
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>C (p.Arg263Pro)
|
rs2063192428
|
|
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
|
|
|
NM_000284.4(PDHA1):c.831+92C>G
|
rs7058518
|
|
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)
|
rs1057521993
|
|
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.871G>A (p.Gly291Arg)
|
rs2147184517
|
|
NM_000284.4(PDHA1):c.900-1_902dup
|
rs2147187186
|
|
NM_000284.4(PDHA1):c.900-2A>G
|
rs1555935197
|
|
NM_000284.4(PDHA1):c.900-85_900-67dup
|
rs369951816
|
|
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.910C>T (p.Arg304Ter)
|
|
|
NM_000284.4(PDHA1):c.921_932dup (p.Val310_Arg311insSerGlnGluVal)
|
rs1057518173
|
|
NM_000284.4(PDHA1):c.927A>G (p.Glu309=)
|
|
|
NM_000284.4(PDHA1):c.929_932del (p.Val310fs)
|
rs1555935216
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
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.954dup (p.Leu319fs)
|
rs886041793
|
|
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
|
rs2063233021
|
|
NM_000284.4(PDHA1):c.981_1008+6dup
|
rs2147187364
|
|
NM_000284.4(PDHA1):c.985_998dup (p.Glu333fs)
|
rs863224157
|
|
NM_000284.4(PDHA1):c.992G>T (p.Ser331Ile)
|
rs2147187404
|
|