NM_002225.5(IVD):c.550+57A>G
|
rs4924466
|
0.96250
|
NM_000191.3(HMGCL):c.654A>G (p.Leu218=)
|
rs719400
|
0.92712
|
NM_020166.5(MCCC1):c.396C>T (p.Leu132=)
|
rs7622479
|
0.89165
|
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_001243279.3(ACSF3):c.306C>T (p.Cys102=)
|
rs6500526
|
0.71888
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_002225.5(IVD):c.234+14T>C
|
rs2289331
|
0.62561
|
NM_002225.5(IVD):c.1065+41A>G
|
rs11070270
|
0.60848
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
NM_002225.5(IVD):c.688-31T>C
|
rs2289329
|
0.35913
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_052845.4(MMAB):c.56G>A (p.Arg19His)
|
rs10774775
|
0.31347
|
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)
|
rs3741056
|
0.27945
|
NM_000019.4(ACAT1):c.-9T>A
|
rs3741055
|
0.26111
|
NM_002225.5(IVD):c.*261G>A
|
rs2075624
|
0.23369
|
NM_015506.3(MMACHC):c.*279A>G
|
rs9729395
|
0.22677
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
NM_000282.4(PCCA):c.627A>G (p.Ala209=)
|
rs538229
|
0.14245
|
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_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)
|
rs143793502
|
0.09373
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
NM_172250.3(MMAA):c.747G>A (p.Ser249=)
|
rs11721553
|
0.07844
|
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)
|
rs2270655
|
0.04892
|
NM_052845.4(MMAB):c.288T>C (p.Ile96=)
|
rs62000414
|
0.04206
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
NM_002225.5(IVD):c.*195C>T
|
rs77680513
|
0.02693
|
NM_002225.5(IVD):c.1066-5C>T
|
rs115077254
|
0.02192
|
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)
|
rs61732507
|
0.02015
|
NM_015702.3(MMADHC):c.478+6T>G
|
rs13402787
|
0.01622
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)
|
rs16957356
|
0.01499
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)
|
rs34749281
|
0.01204
|
NM_172250.3(MMAA):c.138T>C (p.Ser46=)
|
rs34702224
|
0.01204
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_002225.5(IVD):c.235-18G>A
|
rs78272986
|
0.01081
|
NM_002225.5(IVD):c.-48G>A
|
rs114259808
|
0.01080
|
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)
|
rs1065759
|
0.01068
|
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys)
|
rs61746421
|
0.01067
|
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile)
|
rs34886916
|
0.01066
|
NM_022132.5(MCCC2):c.1578A>G (p.Val526=)
|
rs114527907
|
0.01062
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)
|
rs73559264
|
0.00941
|
NM_001243279.3(ACSF3):c.1367-6C>T
|
rs113343336
|
0.00901
|
NM_001243279.3(ACSF3):c.1126+4C>T
|
rs73254029
|
0.00878
|
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)
|
rs61732501
|
0.00850
|
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln)
|
rs78726268
|
0.00817
|
NM_000191.3(HMGCL):c.48G>A (p.Ala16=)
|
rs115611440
|
0.00769
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)
|
rs114092911
|
0.00722
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
NM_000282.4(PCCA):c.1846-9G>T
|
rs141118743
|
0.00627
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys)
|
rs35706839
|
0.00480
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
NM_020166.5(MCCC1):c.726T>C (p.Asp242=)
|
rs36206712
|
0.00445
|
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met)
|
rs147597284
|
0.00391
|
NM_000019.4(ACAT1):c.903G>A (p.Ala301=)
|
rs75811190
|
0.00390
|
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=)
|
rs138395741
|
0.00346
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)
|
rs139657823
|
0.00308
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)
|
rs146019354
|
0.00232
|
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
|
rs148651921
|
0.00231
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_052845.4(MMAB):c.185C>T (p.Thr62Met)
|
rs115802744
|
0.00177
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_000019.4(ACAT1):c.480A>G (p.Pro160=)
|
rs141131039
|
0.00101
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
NM_022132.5(MCCC2):c.511+7dup
|
rs200382661
|
0.00068
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
NM_002225.5(IVD):c.229C>T (p.Leu77=)
|
rs143807229
|
0.00032
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr)
|
rs192339782
|
0.00019
|
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)
|
rs201022212
|
0.00019
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)
|
rs146306707
|
0.00005
|
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=)
|
rs137961577
|
0.00003
|
NM_000019.4(ACAT1):c.*6dup
|
rs111390656
|
|
NM_000019.4(ACAT1):c.436-4G>A
|
rs3741050
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_001352514.2(HLCS):c.*7_*9del
|
rs201681436
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
|
rs559044965
|
|
NM_052845.4(MMAB):c.-9G>T
|
rs554831769
|
|