NM_005050.4(ABCD4):c.1753-46A>G
|
rs929449
|
0.99998
|
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp)
|
rs2796835
|
0.99996
|
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr)
|
rs1276712
|
0.99748
|
NM_001609.4(ACADSB):c.1129-90A>G
|
rs2421166
|
0.98530
|
NM_002225.5(IVD):c.550+57A>G
|
rs4924466
|
0.96250
|
NM_001081.4(CUBN):c.593+33dup
|
rs11409967
|
0.95095
|
NM_000191.3(HMGCL):c.252+34T>C
|
rs2076344
|
0.92735
|
NM_000191.3(HMGCL):c.654A>G (p.Leu218=)
|
rs719400
|
0.92712
|
NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
NM_001081.4(CUBN):c.594-34G>A
|
rs2295813
|
0.91875
|
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=)
|
rs7201122
|
0.91794
|
NM_020166.5(MCCC1):c.396C>T (p.Leu132=)
|
rs7622479
|
0.89165
|
NM_001081.4(CUBN):c.123-16C>G
|
rs2281648
|
0.87635
|
NM_001081.4(CUBN):c.2791+9C>T
|
rs10795440
|
0.85809
|
NM_001081.4(CUBN):c.6463-22A>C
|
rs1276713
|
0.83410
|
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=)
|
rs10064079
|
0.82429
|
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)
|
rs11545261
|
0.78682
|
NM_001081.4(CUBN):c.7912+25T>C
|
rs780807
|
0.76044
|
NM_001081.4(CUBN):c.10180+30A>G
|
rs703062
|
0.75316
|
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=)
|
rs1801229
|
0.73095
|
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser)
|
rs1801231
|
0.73090
|
NM_181697.3(PRDX1):c.107-33A>G
|
rs2356559
|
0.73044
|
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)
|
rs1058180
|
0.72415
|
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro)
|
rs7188200
|
0.72412
|
NM_001243279.3(ACSF3):c.-20-129C>T
|
rs7195892
|
0.72305
|
NM_001243279.3(ACSF3):c.-20-4C>G
|
rs57558972
|
0.72289
|
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser)
|
rs1801222
|
0.72079
|
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=)
|
rs6500528
|
0.72028
|
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=)
|
rs6500527
|
0.72026
|
NM_001243279.3(ACSF3):c.667-77G>C
|
rs4782458
|
0.72002
|
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=)
|
rs7193255
|
0.71937
|
NM_001243279.3(ACSF3):c.369C>A (p.Val123=)
|
rs6500529
|
0.71928
|
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=)
|
rs6500526
|
0.71888
|
NM_001243279.3(ACSF3):c.822+38C>G
|
rs4782456
|
0.71783
|
NM_032861.4(SERAC1):c.249C>T (p.Asp83=)
|
rs6929274
|
0.71772
|
NM_032861.4(SERAC1):c.129-34C>G
|
rs6929520
|
0.71770
|
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
|
rs3743979
|
0.71214
|
NM_001243279.3(ACSF3):c.822+145T>C
|
rs4782455
|
0.71040
|
NM_001243279.3(ACSF3):c.667-31T>C
|
rs4782457
|
0.71038
|
NM_001243279.3(ACSF3):c.667-101T>C
|
rs7200676
|
0.71025
|
NM_001243279.3(ACSF3):c.666+37C>T
|
rs8060043
|
0.70606
|
NM_001243279.3(ACSF3):c.1239+57G>C
|
rs3743983
|
0.70590
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=)
|
rs703064
|
0.70381
|
NM_001243279.3(ACSF3):c.822+53_822+54del
|
rs10578141
|
0.69831
|
NM_001243279.3(ACSF3):c.666+199T>C
|
rs7194257
|
0.67347
|
NM_000282.4(PCCA):c.1644-31A>G
|
rs9518061
|
0.66246
|
NM_015702.3(MMADHC):c.479-22G>C
|
rs12232959
|
0.66236
|
NM_001243279.3(ACSF3):c.1126+40G>T
|
rs3743980
|
0.65690
|
NM_002225.5(IVD):c.688-85A>G
|
rs2289330
|
0.65147
|
NM_002225.5(IVD):c.234+14T>C
|
rs2289331
|
0.62561
|
NM_001001563.5(TIMM50):c.108+21C>G
|
rs2304221
|
0.62299
|
NM_002225.5(IVD):c.457-120C>T
|
rs8034416
|
0.61186
|
NM_002225.5(IVD):c.1065+41A>G
|
rs11070270
|
0.60848
|
NM_001352514.2(HLCS):c.1893-46G>T
|
rs2073421
|
0.59296
|
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val)
|
rs8589
|
0.58978
|
NM_000255.4(MMUT):c.636G>A (p.Lys212=)
|
rs2229384
|
0.58567
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr)
|
rs1801224
|
0.57919
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_001352514.2(HLCS):c.1438-36G>A
|
rs2073425
|
0.55169
|
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)
|
rs291466
|
0.52671
|
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=)
|
rs1801234
|
0.50897
|
NM_000019.4(ACAT1):c.435+78A>C
|
rs10890817
|
0.49701
|
NM_015506.3(MMACHC):c.321G>A (p.Val107=)
|
rs2275276
|
0.43226
|
NM_032861.4(SERAC1):c.355+11A>G
|
rs9356399
|
0.42562
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
NM_001352514.2(HLCS):c.2122-30G>A
|
rs2073420
|
0.40931
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
NM_001001563.5(TIMM50):c.597+38T>C
|
rs1865094
|
0.37722
|
NM_000532.5(PCCB):c.967-46A>G
|
rs9833162
|
0.36992
|
NM_002225.5(IVD):c.688-31T>C
|
rs2289329
|
0.35913
|
NM_018368.4(LMBRD1):c.1509+22G>A
|
rs3214021
|
0.35441
|
NM_001081.4(CUBN):c.2487G>A (p.Ser829=)
|
rs1801225
|
0.34517
|
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu)
|
rs12648
|
0.32715
|
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr)
|
rs4148077
|
0.30526
|
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)
|
rs3742801
|
0.30506
|
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)
|
rs12263012
|
0.30009
|
NM_005050.4(ABCD4):c.981C>A (p.Leu327=)
|
rs4148078
|
0.29827
|
NM_005050.4(ABCD4):c.184T>C (p.Leu62=)
|
rs2301345
|
0.29779
|
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)
|
rs3741056
|
0.27945
|
NM_000191.3(HMGCL):c.877-72T>C
|
rs2076343
|
0.27156
|
NM_000019.4(ACAT1):c.1005+25C>T
|
rs10890819
|
0.26160
|
NM_000019.4(ACAT1):c.-9T>A
|
rs3741055
|
0.26111
|
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
|
rs12447947
|
0.24857
|
NM_000019.4(ACAT1):c.238+134A>C
|
rs7931681
|
0.23898
|
NM_001609.4(ACADSB):c.639C>T (p.His213=)
|
rs1140591
|
0.22709
|
NM_015506.3(MMACHC):c.*279A>G
|
rs9729395
|
0.22677
|
NM_001081.4(CUBN):c.939C>T (p.Asn313=)
|
rs1801223
|
0.21191
|
NM_001001563.5(TIMM50):c.696+38G>A
|
rs8112528
|
0.19648
|
NM_005334.3(HCFC1):c.713-13C>T
|
rs59607260
|
0.19358
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
NM_005334.3(HCFC1):c.1085-22C>G
|
rs17421
|
0.19150
|
NM_001081.4(CUBN):c.5343-8C>A
|
rs2271463
|
0.19092
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=)
|
rs1801241
|
0.16648
|
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)
|
rs3027878
|
0.16009
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
NM_000532.5(PCCB):c.654+20T>C
|
rs3821445
|
0.15527
|
NM_000282.4(PCCA):c.627A>G (p.Ala209=)
|
rs538229
|
0.14245
|
NM_001081.4(CUBN):c.4970-22A>C
|
rs74668791
|
0.13460
|
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly)
|
rs41289305
|
0.13356
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
NM_002225.5(IVD):c.723C>T (p.Asp241=)
|
rs2229312
|
0.11757
|
NM_001698.3(AUH):c.331-6G>A
|
rs10991898
|
0.08502
|
NM_025136.3(OPA3):c.-75G>A
|
rs45598532
|
0.06189
|
NM_001081.4(CUBN):c.618C>T (p.Tyr206=)
|
rs41289313
|
0.06126
|
NM_001081.4(CUBN):c.1245T>C (p.Gly415=)
|
rs12571671
|
0.05965
|
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)
|
rs35219601
|
0.04960
|
NM_032861.4(SERAC1):c.1016-11C>T
|
rs41269577
|
0.04319
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_025136.4(OPA3):c.142+69G>C
|
rs62111684
|
0.03152
|
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=)
|
rs1801228
|
0.02872
|
NM_015506.3(MMACHC):c.178G>C (p.Asp60His)
|
rs6662272
|
0.02835
|
NM_032861.4(SERAC1):c.1403+12G>A
|
rs117813106
|
0.02692
|
NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=)
|
rs75591977
|
0.02239
|
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile)
|
rs112780453
|
0.02065
|
NM_001352514.2(HLCS):c.*40A>G
|
rs77014096
|
0.02028
|
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg)
|
rs3740168
|
0.02019
|
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=)
|
rs73797641
|
0.01607
|
NM_015506.3(MMACHC):c.738C>T (p.Pro246=)
|
rs16832550
|
0.01337
|
NM_015506.3(MMACHC):c.*269A>G
|
rs35067820
|
0.01308
|
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)
|
rs34749281
|
0.01204
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)
|
rs34270473
|
0.01029
|
NM_000255.4(MMUT):c.711A>G (p.Pro237=)
|
rs138085432
|
0.00930
|
NM_000191.2(HMGCL):c.-59A>C
|
rs188188846
|
0.00929
|
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys)
|
rs2271460
|
0.00803
|
NM_000191.3(HMGCL):c.48G>A (p.Ala16=)
|
rs115611440
|
0.00769
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_032861.4(SERAC1):c.739-10T>G
|
rs118093738
|
0.00555
|
NM_000191.3(HMGCL):c.*194C>G
|
rs192071003
|
0.00530
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)
|
rs116763934
|
0.00417
|
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)
|
rs114443105
|
0.00411
|
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)
|
rs116173262
|
0.00410
|
NM_000191.3(HMGCL):c.61-17C>T
|
rs56913973
|
0.00337
|
NM_001243279.3(ACSF3):c.823-26T>C
|
rs9921293
|
0.00317
|
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu)
|
rs147194699
|
0.00309
|
NM_000191.3(HMGCL):c.393A>G (p.Ser131=)
|
rs56218308
|
0.00290
|
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln)
|
rs114943513
|
0.00253
|
NM_015506.3(MMACHC):c.276+17T>A
|
rs115028762
|
0.00201
|
NM_000191.3(HMGCL):c.497+19G>A
|
rs187735179
|
0.00172
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
NM_032861.4(SERAC1):c.1137A>G (p.Val379=)
|
rs115846131
|
0.00100
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_032861.4(SERAC1):c.1404-3C>G
|
rs367596327
|
0.00045
|
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)
|
rs192833530
|
0.00043
|
NM_032861.4(SERAC1):c.1308+7G>A
|
rs201873667
|
0.00040
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)
|
rs114741005
|
0.00036
|
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=)
|
rs114493681
|
0.00036
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_000191.3(HMGCL):c.604C>T (p.Leu202=)
|
rs146602259
|
0.00029
|
NM_032861.4(SERAC1):c.1828+10C>G
|
rs374374755
|
0.00027
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
NM_000191.3(HMGCL):c.145-8C>T
|
rs369286537
|
0.00016
|
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
|
rs143065058
|
0.00014
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
|
rs148032473
|
0.00012
|
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)
|
rs139520739
|
0.00012
|
NM_172250.3(MMAA):c.941G>A (p.Arg314His)
|
rs148142853
|
0.00012
|
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
|
rs200955062
|
0.00011
|
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
|
rs377359610
|
0.00011
|
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)
|
rs141518662
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
NM_001243279.3(ACSF3):c.823-6T>C
|
rs76096111
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)
|
rs369883781
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)
|
rs114624250
|
0.00010
|
NM_000191.3(HMGCL):c.375C>T (p.Val125=)
|
rs139102957
|
0.00009
|
NM_000191.3(HMGCL):c.498-10C>A
|
rs373505626
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)
|
rs144411003
|
0.00009
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
|
rs374795215
|
0.00009
|
NM_032861.4(SERAC1):c.1403+11C>T
|
rs369586400
|
0.00008
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)
|
rs759448696
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)
|
rs1220930025
|
0.00006
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.145-13C>T
|
rs762224192
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)
|
rs368688262
|
0.00004
|
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
|
rs777758512
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)
|
rs750965429
|
0.00004
|
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=)
|
rs201331072
|
0.00004
|
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
|
rs863224200
|
0.00004
|
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
|
rs375757326
|
0.00004
|
NM_032861.4(SERAC1):c.999T>C (p.Ser333=)
|
rs746668292
|
0.00004
|
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)
|
rs533819939
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_181697.3(PRDX1):c.515-1G>T
|
rs751828470
|
0.00004
|
NM_000191.3(HMGCL):c.349-3C>A
|
rs777476731
|
0.00003
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser)
|
rs1196513317
|
0.00003
|
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)
|
rs887791543
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
|
rs779852958
|
0.00003
|
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
|
rs373738626
|
0.00002
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00002
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)
|
rs764360500
|
0.00002
|
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)
|
rs764926275
|
0.00002
|
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)
|
rs761468576
|
0.00002
|
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)
|
rs548026367
|
0.00002
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)
|
rs901081235
|
0.00002
|
NM_015506.2(MMACHC):c.-123A>T
|
rs539415170
|
0.00002
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln)
|
rs148088842
|
0.00002
|
NM_032861.4(SERAC1):c.266-11A>G
|
rs574469098
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys)
|
rs772848693
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.345A>C (p.Ala115=)
|
rs761706911
|
0.00001
|
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)
|
rs747529727
|
0.00001
|
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
|
rs1303119110
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000191.3(HMGCL):c.84T>C (p.Thr28=)
|
rs752969194
|
0.00001
|
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)
|
rs565348836
|
0.00001
|
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys)
|
rs753955254
|
0.00001
|
NM_000282.4(PCCA):c.2173G>A (p.Val725Met)
|
rs747593363
|
0.00001
|
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)
|
rs749118295
|
0.00001
|
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
|
rs1243213118
|
0.00001
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
NM_015506.3(MMACHC):c.477C>T (p.Ala159=)
|
rs747698015
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)
|
rs149268368
|
0.00001
|
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)
|
rs199632531
|
0.00001
|
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)
|
rs780664696
|
0.00001
|
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)
|
rs756437003
|
0.00001
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
NM_172250.3(MMAA):c.313A>G (p.Ile105Val)
|
rs1284134117
|
0.00001
|
NM_000019.4(ACAT1):c.-22C>G
|
rs3741054
|
|
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val)
|
rs774524997
|
|
NM_000019.4(ACAT1):c.334+172C>G
|
rs12226047
|
|
NM_000019.4(ACAT1):c.826+85_826+86insGTAA
|
rs10682490
|
|
NM_000019.4(ACAT1):c.940+84C>T
|
rs12794010
|
|
NM_000191.3(HMGCL):c.-91G>T
|
rs6697805
|
|
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
|
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)
|
rs886046314
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.497+3G>A
|
rs763178392
|
|
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val)
|
rs2148422419
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.562-2A>G
|
rs1553131955
|
|
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
|
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
|
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
|
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
NM_000191.3(HMGCL):c.876+1G>C
|
rs779802353
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)
|
rs1554161054
|
|
NM_000255.4(MMUT):c.733A>G (p.Ile245Val)
|
rs754464973
|
|
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr)
|
rs2152684002
|
|
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)
|
rs767997785
|
|
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala)
|
rs749767976
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly)
|
rs746776657
|
|
NM_000282.4(PCCA):c.895G>A (p.Val299Met)
|
rs1188239325
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_001001563.5(TIMM50):c.492+17C>G
|
rs4803245
|
|
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys)
|
rs1801232
|
|
NM_001081.4(CUBN):c.1911C>T (p.Leu637=)
|
rs41289311
|
|
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)
|
rs781134234
|
|
NM_001243279.3(ACSF3):c.1502-146A>G
|
rs4302032
|
|
NM_001243279.3(ACSF3):c.666+195G>A
|
rs6500530
|
|
NM_001243279.3(ACSF3):c.978-83C>G
|
rs9940965
|
|
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1960+117A>T
|
rs2835455
|
|
NM_001352514.2(HLCS):c.2450+136C>T
|
rs9977769
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)
|
rs1295528438
|
|
NM_001370658.1(BTD):c.195C>T (p.Leu65=)
|
rs2125454784
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)
|
rs2125500615
|
|
NM_001609.4(ACADSB):c.1228+21del
|
rs11307362
|
|
NM_002225.5(IVD):c.607G>C (p.Asp203His)
|
rs2141331313
|
|
NM_002225.5(IVD):c.813G>A (p.Lys271=)
|
rs767825575
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.187del (p.Leu63fs)
|
rs1343936481
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)
|
rs1006520706
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
|
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)
|
rs199641732
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015506.3:c.275_278del
|
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
|
rs1367329678
|
|
NM_020166.5(MCCC1):c.453C>T (p.Gly151=)
|
rs1716764203
|
|
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr)
|
rs2108526676
|
|
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln)
|
rs2112463776
|
|
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys)
|
rs2112472855
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr)
|
rs2112438294
|
|
NM_032861.4(SERAC1):c.1016-31_1016-17del
|
rs374730949
|
|
NM_032861.4(SERAC1):c.1309-18_1309-17del
|
rs780332152
|
|
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)
|
rs115459512
|
|
NM_032861.4(SERAC1):c.1502-24dup
|
rs780420200
|
|
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG
|
rs1554260851
|
|
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)
|
rs1384614641
|
|
NM_032861.4(SERAC1):c.266-48dup
|
rs71027384
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|