|
NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
|
NM_000191.3(HMGCL):c.654A>G (p.Leu218=)
|
rs719400
|
0.92712
|
|
NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
|
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_022132.5(MCCC2):c.1368A>G (p.Ala456=)
|
rs10064079
|
0.82429
|
|
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)
|
rs11545261
|
0.78682
|
|
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.354T>C (p.Ser118=)
|
rs6500528
|
0.72028
|
|
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=)
|
rs6500527
|
0.72026
|
|
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_032861.4(SERAC1):c.249C>T (p.Asp83=)
|
rs6929274
|
0.71772
|
|
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
|
rs3743979
|
0.71214
|
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
|
NM_002225.5(IVD):c.234+14T>C
|
rs2289331
|
0.62561
|
|
NC_000010.11:g.123008776G>A
|
rs2277250
|
0.59177
|
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
|
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)
|
rs291466
|
0.52671
|
|
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_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
|
NM_000282.4(PCCA):c.1845+10585T>C
|
rs2760311
|
0.35905
|
|
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu)
|
rs12648
|
0.32715
|
|
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_022132.5(MCCC2):c.904-12A>G
|
rs277984
|
0.30658
|
|
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_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
|
rs12447947
|
0.24857
|
|
NM_001609.4(ACADSB):c.639C>T (p.His213=)
|
rs1140591
|
0.22709
|
|
NM_005334.3(HCFC1):c.713-13C>T
|
rs59607260
|
0.19358
|
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
|
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_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
|
NM_001698.3(AUH):c.483A>C (p.Ile161=)
|
rs7874056
|
0.11827
|
|
NM_002225.5(IVD):c.723C>T (p.Asp241=)
|
rs2229312
|
0.11757
|
|
NM_001258392.3(CLPB):c.840A>G (p.Glu280=)
|
rs36049191
|
0.09452
|
|
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_001698.3(AUH):c.331-6G>A
|
rs10991898
|
0.08502
|
|
NM_172250.3(MMAA):c.747G>A (p.Ser249=)
|
rs11721553
|
0.07844
|
|
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg)
|
rs58272575
|
0.07062
|
|
NM_005050.4(ABCD4):c.1560-12A>C
|
rs74061802
|
0.06985
|
|
NM_005050.4(ABCD4):c.668+7C>T
|
rs61757464
|
0.06982
|
|
NM_005050.4(ABCD4):c.1636+10C>T
|
rs74061801
|
0.06981
|
|
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val)
|
rs61744947
|
0.06981
|
|
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=)
|
rs57773157
|
0.06977
|
|
NM_005050.4(ABCD4):c.492C>G (p.Leu164=)
|
rs36031534
|
0.06974
|
|
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=)
|
rs11845976
|
0.06972
|
|
NM_005050.4(ABCD4):c.815-13G>C
|
rs74063815
|
0.06964
|
|
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=)
|
rs1052000
|
0.06963
|
|
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile)
|
rs34992370
|
0.06330
|
|
NM_001609.4(ACADSB):c.946A>G (p.Ile316Val)
|
rs1131430
|
0.06319
|
|
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)
|
rs3027883
|
0.05020
|
|
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)
|
rs35219601
|
0.04960
|
|
NM_014384.3(ACAD8):c.841+7T>C
|
rs77368661
|
0.04943
|
|
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)
|
rs2270655
|
0.04892
|
|
NM_005334.3(HCFC1):c.1085-12G>A
|
rs3027893
|
0.04847
|
|
NM_014384.3(ACAD8):c.1195+12C>T
|
rs75333832
|
0.04799
|
|
NM_032861.4(SERAC1):c.1016-11C>T
|
rs41269577
|
0.04319
|
|
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_001243279.3(ACSF3):c.49G>C (p.Ala17Pro)
|
rs11547019
|
0.03850
|
|
NM_001352514.2(HLCS):c.1960+16T>A
|
rs73398135
|
0.03462
|
|
NM_001243279.3(ACSF3):c.667-12C>T
|
rs72817437
|
0.03381
|
|
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)
|
rs1051153
|
0.03363
|
|
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)
|
rs1051151
|
0.03295
|
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_005334.3(HCFC1):c.1605+20G>T
|
rs1002679
|
0.02967
|
|
NM_015506.3(MMACHC):c.178G>C (p.Asp60His)
|
rs6662272
|
0.02835
|
|
NM_032861.4(SERAC1):c.1403+12G>A
|
rs117813106
|
0.02692
|
|
NM_001243279.3(ACSF3):c.1367-13C>G
|
rs140859425
|
0.02493
|
|
NM_014362.4(HIBCH):c.517+15T>A
|
rs291417
|
0.02472
|
|
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=)
|
rs75591977
|
0.02239
|
|
NM_002225.5(IVD):c.1066-5C>T
|
rs115077254
|
0.02192
|
|
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile)
|
rs112780453
|
0.02065
|
|
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)
|
rs61732507
|
0.02015
|
|
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=)
|
rs35401939
|
0.02006
|
|
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser)
|
rs74832989
|
0.01849
|
|
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)
|
rs185987427
|
0.01804
|
|
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp)
|
rs61752508
|
0.01780
|
|
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr)
|
rs7938203
|
0.01762
|
|
NM_018368.4(LMBRD1):c.980+11T>C
|
rs114726590
|
0.01756
|
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
|
NM_001609.4(ACADSB):c.168A>G (p.Thr56=)
|
rs34221067
|
0.01697
|
|
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)
|
rs141722238
|
0.01632
|
|
NM_015702.3(MMADHC):c.478+6T>G
|
rs13402787
|
0.01622
|
|
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=)
|
rs73797641
|
0.01607
|
|
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)
|
rs113488591
|
0.01568
|
|
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_015506.3(MMACHC):c.738C>T (p.Pro246=)
|
rs16832550
|
0.01337
|
|
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_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
|
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=)
|
rs34327883
|
0.01106
|
|
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro)
|
rs35181923
|
0.01086
|
|
NM_002225.5(IVD):c.235-18G>A
|
rs78272986
|
0.01081
|
|
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=)
|
rs59213357
|
0.01079
|
|
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_032861.4(SERAC1):c.89T>C (p.Ile30Thr)
|
rs34270473
|
0.01029
|
|
NM_014384.3(ACAD8):c.210+6C>T
|
rs148089913
|
0.01003
|
|
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)
|
rs73559264
|
0.00941
|
|
NM_002225.5(IVD):c.88C>T (p.His30Tyr)
|
rs73383128
|
0.00938
|
|
NM_005050.4(ABCD4):c.195T>C (p.Ser65=)
|
rs35417609
|
0.00937
|
|
NM_014384.3(ACAD8):c.211-4A>G
|
rs517424
|
0.00927
|
|
NM_001243279.3(ACSF3):c.667-13T>C
|
rs139367843
|
0.00923
|
|
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_005050.4(ABCD4):c.1028+6G>T
|
rs115783644
|
0.00836
|
|
NM_005050.4(ABCD4):c.669-13T>G
|
rs144451801
|
0.00836
|
|
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_001258392.3(CLPB):c.996G>A (p.Arg332=)
|
rs146912721
|
0.00764
|
|
NM_001352514.2(HLCS):c.494-13A>G
|
rs76785742
|
0.00759
|
|
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=)
|
rs17850540
|
0.00755
|
|
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_014384.3(ACAD8):c.801C>T (p.Leu267=)
|
rs36115758
|
0.00717
|
|
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro)
|
rs139863822
|
0.00711
|
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
|
NM_014362.4(HIBCH):c.1038T>A (p.Val346=)
|
rs13406709
|
0.00643
|
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
|
NM_000282.4(PCCA):c.1846-9G>T
|
rs141118743
|
0.00627
|
|
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)
|
rs114276563
|
0.00611
|
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
|
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)
|
rs74484860
|
0.00593
|
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
|
NM_052845.4(MMAB):c.349-17T>C
|
rs72650187
|
0.00583
|
|
NM_005050.4(ABCD4):c.543-14T>C
|
rs79311122
|
0.00556
|
|
NM_032861.4(SERAC1):c.739-10T>G
|
rs118093738
|
0.00555
|
|
NM_005334.3(HCFC1):c.1445-14C>T
|
rs184593569
|
0.00544
|
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
|
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)
|
rs3027882
|
0.00511
|
|
NM_001698.3(AUH):c.182C>A (p.Pro61His)
|
rs181327211
|
0.00487
|
|
NM_014362.4(HIBCH):c.663+19G>T
|
rs75352449
|
0.00485
|
|
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_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)
|
rs112524097
|
0.00471
|
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
|
NM_020166.5(MCCC1):c.726T>C (p.Asp242=)
|
rs36206712
|
0.00445
|
|
NM_018368.4(LMBRD1):c.1509+20G>C
|
rs116095397
|
0.00424
|
|
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln)
|
rs143288344
|
0.00421
|
|
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_001698.3(AUH):c.927A>G (p.Glu309=)
|
rs78739693
|
0.00399
|
|
NM_022132.5(MCCC2):c.282-7G>A
|
rs115078899
|
0.00399
|
|
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)
|
rs150665851
|
0.00392
|
|
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_005050.4(ABCD4):c.1023G>A (p.Thr341=)
|
rs35522023
|
0.00378
|
|
NM_001609.4(ACADSB):c.786G>A (p.Pro262=)
|
rs76111609
|
0.00373
|
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
|
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=)
|
rs141088268
|
0.00369
|
|
NM_018368.4(LMBRD1):c.562+18T>A
|
rs183663902
|
0.00364
|
|
NM_002225.5(IVD):c.551-18C>T
|
rs142064071
|
0.00363
|
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
|
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=)
|
rs138395741
|
0.00346
|
|
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=)
|
rs149650795
|
0.00341
|
|
NM_000191.3(HMGCL):c.61-17C>T
|
rs56913973
|
0.00337
|
|
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp)
|
rs141383303
|
0.00324
|
|
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)
|
rs144053672
|
0.00316
|
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
|
NM_001352514.2(HLCS):c.1893-6C>T
|
rs139904712
|
0.00313
|
|
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu)
|
rs147194699
|
0.00309
|
|
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)
|
rs139657823
|
0.00308
|
|
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=)
|
rs142023670
|
0.00298
|
|
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=)
|
rs149729439
|
0.00292
|
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
|
NM_000191.3(HMGCL):c.393A>G (p.Ser131=)
|
rs56218308
|
0.00290
|
|
NM_001352514.2(HLCS):c.2451-19C>T
|
rs78671947
|
0.00290
|
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
|
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)
|
rs192386572
|
0.00278
|
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
|
NM_001609.4(ACADSB):c.92A>G (p.His31Arg)
|
rs57321698
|
0.00270
|
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
|
NM_172250.3(MMAA):c.597G>A (p.Glu199=)
|
rs116773849
|
0.00262
|
|
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln)
|
rs114943513
|
0.00253
|
|
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser)
|
rs150552809
|
0.00247
|
|
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=)
|
rs115776284
|
0.00242
|
|
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=)
|
rs183159791
|
0.00242
|
|
NM_014362.4(HIBCH):c.214C>T (p.Leu72=)
|
rs149479887
|
0.00238
|
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
|
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_001370658.1(BTD):c.1002G>A (p.Thr334=)
|
rs148764524
|
0.00228
|
|
NM_022132.5(MCCC2):c.969T>C (p.Ala323=)
|
rs112793062
|
0.00228
|
|
NM_014384.3(ACAD8):c.842-8C>G
|
rs201188279
|
0.00227
|
|
NM_014362.4(HIBCH):c.243T>G (p.Thr81=)
|
rs144074606
|
0.00226
|
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
|
NM_000282.4(PCCA):c.1257G>A (p.Gln419=)
|
rs147839487
|
0.00201
|
|
NM_015506.3(MMACHC):c.276+17T>A
|
rs115028762
|
0.00201
|
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
|
NM_002225.5(IVD):c.235-19T>C
|
rs144063157
|
0.00186
|
|
NM_000532.5(PCCB):c.184-12G>T
|
rs181283691
|
0.00185
|
|
NM_000019.4(ACAT1):c.238+17C>T
|
rs199918672
|
0.00182
|
|
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_000191.3(HMGCL):c.497+19G>A
|
rs187735179
|
0.00172
|
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
|
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser)
|
rs150248137
|
0.00170
|
|
NM_000282.4(PCCA):c.1284+16G>A
|
rs113610934
|
0.00169
|
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
|
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)
|
rs111603166
|
0.00164
|
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
|
NM_025136.4(OPA3):c.537A>G (p.Lys179=)
|
rs140105522
|
0.00158
|
|
NM_002225.5(IVD):c.11C>T (p.Ala4Val)
|
rs148189323
|
0.00157
|
|
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu)
|
rs189548179
|
0.00157
|
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
|
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His)
|
rs149463053
|
0.00151
|
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
|
NM_001258392.3(CLPB):c.1122+16T>C
|
rs187846751
|
0.00147
|
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
|
NM_052845.4(MMAB):c.624C>T (p.Asn208=)
|
rs146687452
|
0.00146
|
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
|
NM_015702.3(MMADHC):c.9+14C>T
|
rs140075619
|
0.00140
|
|
NM_000532.5(PCCB):c.1299+9C>A
|
rs60968242
|
0.00137
|
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
|
NM_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
|
NM_001370658.1(BTD):c.339G>A (p.Pro113=)
|
rs181743799
|
0.00133
|
|
NM_001243279.3(ACSF3):c.822+18C>T
|
rs370191947
|
0.00132
|
|
NM_020166.5(MCCC1):c.639+13A>G
|
rs140342772
|
0.00132
|
|
NM_000532.5(PCCB):c.138G>C (p.Ala46=)
|
rs145075817
|
0.00126
|
|
NM_001609.4(ACADSB):c.1014C>T (p.His338=)
|
rs57339164
|
0.00125
|
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
|
NM_145261.4(DNAJC19):c.281-12T>C
|
rs141982712
|
0.00123
|
|
NM_022132.5(MCCC2):c.450G>C (p.Val150=)
|
rs151098534
|
0.00121
|
|
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)
|
rs145183787
|
0.00118
|
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
|
NM_001698.3(AUH):c.135G>A (p.Ala45=)
|
rs774989333
|
0.00111
|
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
|
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
|
rs116118397
|
0.00110
|
|
NM_001352514.2(HLCS):c.2121+11T>A
|
rs371974889
|
0.00105
|
|
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)
|
rs140747102
|
0.00104
|
|
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_005334.3(HCFC1):c.4068C>T (p.Pro1356=)
|
rs185998087
|
0.00101
|
|
NM_032861.4(SERAC1):c.1137A>G (p.Val379=)
|
rs115846131
|
0.00100
|
|
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
0.00098
|
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
|
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala)
|
rs146099754
|
0.00096
|
|
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys)
|
rs188205145
|
0.00096
|
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_018368.4(LMBRD1):c.981-11A>T
|
rs75847296
|
0.00092
|
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
|
NM_014384.3(ACAD8):c.211-20C>T
|
rs200508056
|
0.00089
|
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
|
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=)
|
rs138717332
|
0.00088
|
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
|
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_005334.3(HCFC1):c.2787C>T (p.Ile929=)
|
rs200003914
|
0.00085
|
|
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)
|
rs147457956
|
0.00085
|
|
NM_000282.4(PCCA):c.1065+5C>T
|
rs201597816
|
0.00083
|
|
NM_001243279.3(ACSF3):c.411C>T (p.Val137=)
|
rs148969539
|
0.00083
|
|
NM_018368.4(LMBRD1):c.1509+19C>T
|
rs200824654
|
0.00083
|
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
|
NM_025136.4(OPA3):c.249G>C (p.Leu83=)
|
rs199692583
|
0.00080
|
|
NM_001243279.3(ACSF3):c.1614-12T>C
|
rs373509783
|
0.00079
|
|
NM_002225.5(IVD):c.228C>T (p.Asn76=)
|
rs140098686
|
0.00078
|
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
|
NM_014362.4(HIBCH):c.438+9A>T
|
rs201813923
|
0.00078
|
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
|
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=)
|
rs139369078
|
0.00077
|
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
0.00076
|
|
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)
|
rs144160012
|
0.00076
|
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
|
NM_015506.3(MMACHC):c.798C>T (p.Ala266=)
|
rs201813445
|
0.00075
|
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
|
NM_172250.3(MMAA):c.879A>G (p.Gly293=)
|
rs146352309
|
0.00072
|
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
|
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)
|
rs377035512
|
0.00071
|
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
|
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)
|
rs200564356
|
0.00068
|
|
NM_005334.3(HCFC1):c.503+14C>G
|
rs371163886
|
0.00068
|
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
|
NM_022132.5(MCCC2):c.511+7dup
|
rs200382661
|
0.00068
|
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
|
NM_000191.3(HMGCL):c.663C>T (p.Val221=)
|
rs143884026
|
0.00064
|
|
NM_014362.4(HIBCH):c.36-13A>T
|
rs199859881
|
0.00064
|
|
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
|
rs142513139
|
0.00064
|
|
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met)
|
rs368279501
|
0.00063
|
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00063
|
|
NM_015702.3(MMADHC):c.741A>G (p.Glu247=)
|
rs146820547
|
0.00062
|
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
|
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)
|
rs140941507
|
0.00061
|
|
NM_020166.5(MCCC1):c.1731+6C>A
|
rs369754994
|
0.00061
|
|
NM_000282.4(PCCA):c.870C>T (p.Cys290=)
|
rs141174380
|
0.00060
|
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
|
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=)
|
rs145155300
|
0.00059
|
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
|
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=)
|
rs200399318
|
0.00058
|
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_001243279.3(ACSF3):c.1614-10G>C
|
rs370941606
|
0.00056
|
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
0.00056
|
|
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys)
|
rs147116804
|
0.00056
|
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
|
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr)
|
rs200997332
|
0.00055
|
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
|
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
|
rs147447600
|
0.00055
|
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
|
NM_014384.3(ACAD8):c.110-17T>C
|
rs372435194
|
0.00054
|
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
|
NM_001609.4(ACADSB):c.67T>G (p.Leu23Val)
|
rs149562178
|
0.00053
|
|
NM_001243279.3(ACSF3):c.978-7C>T
|
rs190927208
|
0.00051
|
|
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
|
rs144777839
|
0.00051
|
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
|
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
|
rs145379955
|
0.00050
|
|
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
|
rs376756703
|
0.00050
|
|
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser)
|
rs73477459
|
0.00050
|
|
NM_001258392.3(CLPB):c.1560+11T>C
|
rs113954132
|
0.00049
|
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
|
NM_001258392.3(CLPB):c.723C>T (p.His241=)
|
rs368930954
|
0.00048
|
|
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=)
|
rs150862707
|
0.00048
|
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
|
NM_005050.4(ABCD4):c.1507-18C>T
|
rs368891249
|
0.00047
|
|
NM_001243279.3(ACSF3):c.1614-6C>T
|
rs368789945
|
0.00046
|
|
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser)
|
rs200886053
|
0.00046
|
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
|
NM_005050.4(ABCD4):c.425+13A>G
|
rs370752716
|
0.00046
|
|
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
|
rs144942416
|
0.00045
|
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
|
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00045
|
|
NM_032861.4(SERAC1):c.1404-3C>G
|
rs367596327
|
0.00045
|
|
NM_000019.4(ACAT1):c.1164-15C>T
|
rs185613183
|
0.00044
|
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
|
NM_001258392.3(CLPB):c.455+8G>C
|
rs200993434
|
0.00044
|
|
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=)
|
rs373886730
|
0.00044
|
|
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)
|
rs192833530
|
0.00043
|
|
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=)
|
rs780294227
|
0.00043
|
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
|
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn)
|
rs145438308
|
0.00043
|
|
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile)
|
rs115387731
|
0.00043
|
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
|
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
|
rs774205809
|
0.00042
|
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00041
|
|
NM_001370658.1(BTD):c.411C>T (p.Arg137=)
|
rs141240202
|
0.00041
|
|
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp)
|
rs147795328
|
0.00041
|
|
NM_005050.4(ABCD4):c.1118+9C>T
|
rs370581068
|
0.00041
|
|
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
|
rs559384926
|
0.00041
|
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
|
NM_001258392.3(CLPB):c.159G>A (p.Gly53=)
|
rs146260335
|
0.00040
|
|
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)
|
rs377463848
|
0.00040
|
|
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)
|
rs782384589
|
0.00040
|
|
NM_032861.4(SERAC1):c.1308+7G>A
|
rs201873667
|
0.00040
|
|
NM_000532.5(PCCB):c.1485T>G (p.Pro495=)
|
rs151094095
|
0.00039
|
|
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=)
|
rs143482511
|
0.00039
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
|
NM_001698.3(AUH):c.730G>A (p.Asp244Asn)
|
rs202182817
|
0.00039
|
|
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
|
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=)
|
rs138862492
|
0.00038
|
|
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)
|
rs369241538
|
0.00038
|
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
|
NM_001258392.3(CLPB):c.776-10_776-8del
|
rs572621494
|
0.00037
|
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
|
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)
|
rs756587384
|
0.00037
|
|
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=)
|
rs375212345
|
0.00037
|
|
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)
|
rs782660801
|
0.00037
|
|
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=)
|
rs150305281
|
0.00037
|
|
NM_020166.5(MCCC1):c.267A>C (p.Val89=)
|
rs369138447
|
0.00037
|
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
|
NM_001258392.3(CLPB):c.874-12C>G
|
rs201936481
|
0.00036
|
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
|
NM_025136.4(OPA3):c.143-7C>T
|
rs375551151
|
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_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
|
rs149034301
|
0.00036
|
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
|
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser)
|
rs200053475
|
0.00035
|
|
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met)
|
rs190844812
|
0.00035
|
|
NM_005334.3(HCFC1):c.4943-11C>T
|
rs375388306
|
0.00035
|
|
NM_172250.3(MMAA):c.57A>G (p.Ala19=)
|
rs143211378
|
0.00035
|
|
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=)
|
rs146779456
|
0.00034
|
|
NM_001609.4(ACADSB):c.990+11A>T
|
rs376944892
|
0.00034
|
|
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
|
rs150594251
|
0.00034
|
|
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)
|
rs139315421
|
0.00034
|
|
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=)
|
rs200577062
|
0.00034
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_020166.5(MCCC1):c.438A>G (p.Gly146=)
|
rs139987877
|
0.00034
|
|
NM_022132.5(MCCC2):c.1374-10C>T
|
rs766032118
|
0.00034
|
|
NM_025136.4(OPA3):c.143-14C>T
|
rs368939051
|
0.00034
|
|
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
|
rs146896149
|
0.00034
|
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
|
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
|
rs148332041
|
0.00033
|
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
|
NM_001258392.3(CLPB):c.404-16C>T
|
rs371250603
|
0.00032
|
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
|
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=)
|
rs142437842
|
0.00032
|
|
NM_001698.3(AUH):c.807G>A (p.Arg269=)
|
rs145208407
|
0.00032
|
|
NM_002225.5(IVD):c.229C>T (p.Leu77=)
|
rs143807229
|
0.00032
|
|
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
|
rs147297426
|
0.00032
|
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
|
NM_001243279.3(ACSF3):c.327C>T (p.Val109=)
|
rs141517318
|
0.00031
|
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
|
NM_001258392.3(CLPB):c.1164C>T (p.His388=)
|
rs202009794
|
0.00031
|
|
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)
|
rs141458508
|
0.00031
|
|
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
|
rs201452496
|
0.00031
|
|
NM_005334.3(HCFC1):c.717C>G (p.Thr239=)
|
rs372516617
|
0.00031
|
|
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=)
|
rs138374055
|
0.00031
|
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
|
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)
|
rs147872303
|
0.00030
|
|
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=)
|
rs189674085
|
0.00030
|
|
NM_002225.5(IVD):c.961-6G>A
|
rs199783007
|
0.00030
|
|
NM_005050.4(ABCD4):c.1637-10G>A
|
rs201148020
|
0.00030
|
|
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=)
|
rs200145247
|
0.00030
|
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00030
|
|
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)
|
rs201273972
|
0.00030
|
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
|
NM_000191.3(HMGCL):c.604C>T (p.Leu202=)
|
rs146602259
|
0.00029
|
|
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=)
|
rs147718091
|
0.00029
|
|
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu)
|
rs146588273
|
0.00029
|
|
NM_001258392.3(CLPB):c.646+6T>C
|
rs374982363
|
0.00029
|
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
|
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)
|
rs142696207
|
0.00029
|
|
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)
|
rs377467572
|
0.00029
|
|
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
|
rs373690520
|
0.00029
|
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
|
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
|
rs782660181
|
0.00028
|
|
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=)
|
rs781955031
|
0.00028
|
|
NM_014362.4(HIBCH):c.957A>G (p.Ser319=)
|
rs3213841
|
0.00028
|
|
NM_000532.5(PCCB):c.1091-16A>C
|
rs534160449
|
0.00027
|
|
NM_001258392.3(CLPB):c.693C>T (p.Arg231=)
|
rs149932193
|
0.00027
|
|
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=)
|
rs377583331
|
0.00027
|
|
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)
|
rs199798029
|
0.00027
|
|
NM_032861.4(SERAC1):c.1828+10C>G
|
rs374374755
|
0.00027
|
|
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00027
|
|
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
|
rs140082586
|
0.00026
|
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
|
NM_001258392.3(CLPB):c.465A>G (p.Ser155=)
|
rs138171096
|
0.00026
|
|
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)
|
rs148534573
|
0.00026
|
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00026
|
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
|
NM_002225.5(IVD):c.916C>G (p.Leu306Val)
|
rs144418134
|
0.00026
|
|
NM_005050.4(ABCD4):c.669-11_669-8del
|
rs373949463
|
0.00026
|
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
|
NM_001243279.3(ACSF3):c.978-6G>A
|
rs377217672
|
0.00025
|
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
|
NM_002225.5(IVD):c.234+16C>T
|
rs750473075
|
0.00025
|
|
NM_002225.5(IVD):c.234+9G>A
|
rs369931477
|
0.00025
|
|
NM_014384.3(ACAD8):c.380+17G>T
|
rs201079276
|
0.00025
|
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
|
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=)
|
rs143393390
|
0.00024
|
|
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
|
rs144238478
|
0.00024
|
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
|
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)
|
rs146410859
|
0.00024
|
|
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser)
|
rs767062135
|
0.00023
|
|
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
|
rs556096072
|
0.00023
|
|
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=)
|
rs1259347673
|
0.00023
|
|
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)
|
rs781802693
|
0.00023
|
|
NC_000019.10:g.45529113G>A
|
rs201078416
|
0.00022
|
|
NM_000282.4(PCCA):c.965C>T (p.Ala322Val)
|
rs143527709
|
0.00022
|
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
|
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
|
rs149822970
|
0.00022
|
|
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)
|
rs377491933
|
0.00022
|
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
|
NM_018368.4(LMBRD1):c.1510-17C>T
|
rs149064101
|
0.00022
|
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
|
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
|
rs143096615
|
0.00021
|
|
NM_000532.5(PCCB):c.303+8T>A
|
rs199769617
|
0.00021
|
|
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063
|
0.00021
|
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
|
NM_000282.4(PCCA):c.415-10C>T
|
rs376120578
|
0.00020
|
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
|
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
|
rs141970893
|
0.00020
|
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00020
|
|
NM_002225.5(IVD):c.597C>T (p.Gly199=)
|
rs754418427
|
0.00020
|
|
NM_005334.3(HCFC1):c.4942+8C>T
|
rs1013019333
|
0.00020
|
|
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=)
|
rs200345511
|
0.00020
|
|
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile)
|
rs142869776
|
0.00019
|
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
0.00019
|
|
NM_000282.4(PCCA):c.1131T>G (p.Ala377=)
|
rs754991015
|
0.00019
|
|
NM_000532.5(PCCB):c.510G>A (p.Val170=)
|
rs1212025973
|
0.00019
|
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
|
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_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)
|
rs781425127
|
0.00019
|
|
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)
|
rs145141190
|
0.00019
|
|
NM_001258392.3(CLPB):c.1425C>T (p.His475=)
|
rs756497518
|
0.00019
|
|
NM_001698.3(AUH):c.262+14G>A
|
rs200386272
|
0.00019
|
|
NM_001698.3(AUH):c.330+13A>T
|
rs374741033
|
0.00019
|
|
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
|
rs199986349
|
0.00019
|
|
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
|
rs138753274
|
0.00019
|
|
NM_005334.3(HCFC1):c.4942+11G>A
|
rs782730900
|
0.00019
|
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
|
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)
|
rs201807738
|
0.00019
|
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
|
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=)
|
rs150686471
|
0.00018
|
|
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=)
|
rs77345581
|
0.00018
|
|
NM_001258392.3(CLPB):c.966C>T (p.Ser322=)
|
rs371562971
|
0.00018
|
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
|
NM_002225.5(IVD):c.38C>T (p.Ala13Val)
|
rs189587579
|
0.00018
|
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
|
NM_000282.4(PCCA):c.382A>G (p.Met128Val)
|
rs144201462
|
0.00017
|
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
|
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
|
rs201578135
|
0.00017
|
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
|
NC_000019.10:g.45529183T>A
|
rs201888844
|
0.00016
|
|
NM_000191.3(HMGCL):c.145-8C>T
|
rs369286537
|
0.00016
|
|
NM_000532.5(PCCB):c.1399-19T>C
|
rs368309360
|
0.00016
|
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
|
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)
|
rs142092069
|
0.00016
|
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
|
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)
|
rs200703917
|
0.00016
|
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
|
NM_001609.4(ACADSB):c.1128+2dup
|
rs762666946
|
0.00016
|
|
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
|
rs149139488
|
0.00016
|
|
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=)
|
rs201456625
|
0.00016
|
|
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
|
rs183607306
|
0.00016
|
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
|
NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys)
|
rs368653287
|
0.00016
|
|
NM_014384.3(ACAD8):c.939+11C>T
|
rs372904463
|
0.00016
|
|
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
|
rs185334169
|
0.00016
|
|
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)
|
rs142887940
|
0.00016
|
|
NM_025136.4(OPA3):c.33G>T (p.Leu11=)
|
rs148805518
|
0.00016
|
|
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)
|
rs376891597
|
0.00016
|
|
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
|
rs760794308
|
0.00015
|
|
NM_000191.3(HMGCL):c.876+18C>T
|
rs200098567
|
0.00015
|
|
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=)
|
rs768148002
|
0.00015
|
|
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=)
|
rs187962814
|
0.00015
|
|
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)
|
rs752720474
|
0.00015
|
|
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=)
|
rs147256659
|
0.00015
|
|
NM_001698.3(AUH):c.678C>T (p.Arg226=)
|
rs143768042
|
0.00015
|
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
|
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=)
|
rs370379881
|
0.00015
|
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
|
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)
|
rs202100813
|
0.00015
|
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
|
NM_000282.4(PCCA):c.231+16G>A
|
rs562491059
|
0.00014
|
|
NM_000282.4(PCCA):c.914+10C>G
|
rs774298513
|
0.00014
|
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
|
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=)
|
rs34972688
|
0.00014
|
|
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg)
|
rs200971130
|
0.00014
|
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
|
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)
|
rs756279730
|
0.00014
|
|
NM_001258392.3(CLPB):c.135G>T (p.Pro45=)
|
rs534420559
|
0.00014
|
|
NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys)
|
rs138844739
|
0.00014
|
|
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=)
|
rs200631719
|
0.00014
|
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
|
NM_005050.4(ABCD4):c.719+6T>C
|
rs755014125
|
0.00014
|
|
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=)
|
rs199916332
|
0.00014
|
|
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=)
|
rs372258214
|
0.00014
|
|
NM_005334.3(HCFC1):c.6069-5C>T
|
rs782321258
|
0.00014
|
|
NM_014362.4(HIBCH):c.1011+11A>T
|
rs550386327
|
0.00014
|
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
|
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
|
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln)
|
rs770932848
|
0.00014
|
|
NM_032861.4(SERAC1):c.1308+17C>A
|
rs201126863
|
0.00014
|
|
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu)
|
rs370591885
|
0.00014
|
|
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
|
rs143065058
|
0.00014
|
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
|
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
|
rs200690789
|
0.00014
|
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
|
NM_145261.4(DNAJC19):c.3+16C>T
|
rs367841424
|
0.00014
|
|
NM_172250.3(MMAA):c.729C>T (p.Thr243=)
|
rs138111772
|
0.00014
|
|
NM_000282.4(PCCA):c.24A>G (p.Thr8=)
|
rs117397004
|
0.00013
|
|
NM_000282.4(PCCA):c.862A>C (p.Arg288=)
|
rs121964957
|
0.00013
|
|
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)
|
rs200146632
|
0.00013
|
|
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)
|
rs139902499
|
0.00013
|
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
|
NM_001370658.1(BTD):c.400-4C>T
|
rs372355662
|
0.00013
|
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
|
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser)
|
rs201664321
|
0.00013
|
|
NM_005050.4(ABCD4):c.867C>T (p.Ile289=)
|
rs138775118
|
0.00013
|
|
NM_005334.3(HCFC1):c.1119A>G (p.Val373=)
|
rs782547175
|
0.00013
|
|
NM_005334.3(HCFC1):c.1605+16T>G
|
rs375698764
|
0.00013
|
|
NM_005334.3(HCFC1):c.6005-18C>G
|
rs781820710
|
0.00013
|
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
|
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val)
|
rs140727621
|
0.00013
|
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
|
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
|
rs369440498
|
0.00012
|
|
NM_000019.4(ACAT1):c.1164-14T>C
|
rs111849528
|
0.00012
|
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
|
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
|
rs148032473
|
0.00012
|
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
0.00012
|
|
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
|
rs764602019
|
0.00012
|
|
NM_000532.5(PCCB):c.250A>G (p.Met84Val)
|
rs201950515
|
0.00012
|
|
NM_001243279.3(ACSF3):c.1502-18C>G
|
rs759372180
|
0.00012
|
|
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)
|
rs139520739
|
0.00012
|
|
NM_001243279.3(ACSF3):c.387T>C (p.His129=)
|
rs150050697
|
0.00012
|
|
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=)
|
rs756300619
|
0.00012
|
|
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu)
|
rs145470870
|
0.00012
|
|
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)
|
rs141607995
|
0.00012
|
|
NM_001258392.3(CLPB):c.144G>A (p.Leu48=)
|
rs557250186
|
0.00012
|
|
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=)
|
rs370347318
|
0.00012
|
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
|
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)
|
rs200212229
|
0.00012
|
|
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
|
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met)
|
rs199611189
|
0.00012
|
|
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)
|
rs370113081
|
0.00012
|
|
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
|
rs782566624
|
0.00012
|
|
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)
|
rs201049927
|
0.00012
|
|
NM_014384.3(ACAD8):c.178A>G (p.Met60Val)
|
rs374985215
|
0.00012
|
|
NM_014384.3(ACAD8):c.607G>A (p.Val203Ile)
|
rs759877257
|
0.00012
|
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
|
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)
|
rs144578800
|
0.00012
|
|
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln)
|
rs145846295
|
0.00012
|
|
NM_052845.4(MMAB):c.584+6A>G
|
rs767719463
|
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_000532.5(PCCB):c.544-20T>C
|
rs370010917
|
0.00011
|
|
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr)
|
rs189568082
|
0.00011
|
|
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)
|
rs141518662
|
0.00011
|
|
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
|
rs113731967
|
0.00011
|
|
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)
|
rs201953109
|
0.00011
|
|
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=)
|
rs139236388
|
0.00011
|
|
NM_001258392.3(CLPB):c.690C>T (p.Asn230=)
|
rs200517382
|
0.00011
|
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
|
NM_001370658.1(BTD):c.1362A>G (p.Glu454=)
|
rs189789794
|
0.00011
|
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
|
NM_001370658.1(BTD):c.1438C>T (p.Leu480=)
|
rs150206202
|
0.00011
|
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
|
NM_001370658.1(BTD):c.603C>T (p.Phe201=)
|
rs142418812
|
0.00011
|
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
|
NM_001698.3(AUH):c.926A>C (p.Glu309Ala)
|
rs749713024
|
0.00011
|
|
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049
|
0.00011
|
|
NM_005050.4(ABCD4):c.555C>T (p.Leu185=)
|
rs188108983
|
0.00011
|
|
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)
|
rs182541172
|
0.00011
|
|
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)
|
rs1273500868
|
0.00011
|
|
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)
|
rs372900932
|
0.00011
|
|
NM_014362.4(HIBCH):c.438+19C>G
|
rs919531257
|
0.00011
|
|
NM_014362.4(HIBCH):c.79-7T>C
|
rs201950316
|
0.00011
|
|
NM_014362.4(HIBCH):c.885A>G (p.Gln295=)
|
rs778683855
|
0.00011
|
|
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=)
|
rs374692738
|
0.00011
|
|
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
|
rs775062752
|
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_018368.4(LMBRD1):c.1189-15C>G
|
rs774156278
|
0.00011
|
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
|
NM_020166.5(MCCC1):c.1732-9T>A
|
rs370660849
|
0.00011
|
|
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
|
rs201758122
|
0.00011
|
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
|
NM_020166.5(MCCC1):c.89+13G>C
|
rs774187137
|
0.00011
|
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
|
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
|
rs371374378
|
0.00011
|
|
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
|
rs140220101
|
0.00011
|
|
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
|
rs371336335
|
0.00011
|
|
NM_032861.4(SERAC1):c.128+8G>A
|
rs766928057
|
0.00011
|
|
NM_032861.4(SERAC1):c.1404-11G>A
|
rs371357530
|
0.00011
|
|
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=)
|
rs144641679
|
0.00011
|
|
NM_032861.4(SERAC1):c.552C>T (p.Ser184=)
|
rs140671987
|
0.00011
|
|
NM_032861.4(SERAC1):c.711A>G (p.Glu237=)
|
rs144125721
|
0.00011
|
|
NM_052845.4(MMAB):c.666G>A (p.Thr222=)
|
rs369296142
|
0.00011
|
|
NM_145261.4(DNAJC19):c.129+15A>C
|
rs201697391
|
0.00011
|
|
NM_172250.3(MMAA):c.440-17A>T
|
rs373100355
|
0.00011
|
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
|
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
|
rs146061036
|
0.00010
|
|
NM_000282.4(PCCA):c.2016C>T (p.Ala672=)
|
rs773033856
|
0.00010
|
|
NM_000282.4(PCCA):c.468+11A>C
|
rs187554010
|
0.00010
|
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
|
NM_000532.5(PCCB):c.1299+13T>C
|
rs185352554
|
0.00010
|
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
0.00010
|
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
|
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=)
|
rs749994320
|
0.00010
|
|
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
|
rs368696141
|
0.00010
|
|
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met)
|
rs544489365
|
0.00010
|
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
|
NM_001258392.3(CLPB):c.776-10C>G
|
rs141271919
|
0.00010
|
|
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=)
|
rs149877080
|
0.00010
|
|
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
|
rs139697458
|
0.00010
|
|
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)
|
rs183589811
|
0.00010
|
|
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
|
rs373951547
|
0.00010
|
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
|
NM_001370658.1(BTD):c.645C>A (p.Pro215=)
|
rs140769832
|
0.00010
|
|
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=)
|
rs145295182
|
0.00010
|
|
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu)
|
rs199963793
|
0.00010
|
|
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu)
|
rs143736049
|
0.00010
|
|
NM_001609.4(ACADSB):c.807+10G>A
|
rs367568388
|
0.00010
|
|
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
|
rs141700491
|
0.00010
|
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
|
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=)
|
rs542032495
|
0.00010
|
|
NM_005050.4(ABCD4):c.756G>A (p.Arg252=)
|
rs149632647
|
0.00010
|
|
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)
|
rs368119827
|
0.00010
|
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
|
NM_014384.3(ACAD8):c.444G>T (p.Pro148=)
|
rs572820646
|
0.00010
|
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
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_018368.4(LMBRD1):c.406-6A>C
|
rs373257303
|
0.00010
|
|
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
|
rs376081191
|
0.00010
|
|
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)
|
rs201745589
|
0.00010
|
|
NM_020166.5(MCCC1):c.762-5T>C
|
rs369355125
|
0.00010
|
|
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)
|
rs114624250
|
0.00010
|
|
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
|
rs775668624
|
0.00009
|
|
NM_000191.3(HMGCL):c.375C>T (p.Val125=)
|
rs139102957
|
0.00009
|
|
NM_000191.3(HMGCL):c.498-10C>A
|
rs373505626
|
0.00009
|
|
NM_000282.4(PCCA):c.2169G>A (p.Leu723=)
|
rs371113202
|
0.00009
|
|
NM_000282.4(PCCA):c.232-20A>G
|
rs376850891
|
0.00009
|
|
NM_000282.4(PCCA):c.36C>T (p.Val12=)
|
rs375516917
|
0.00009
|
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
|
NM_000532.5(PCCB):c.373-18T>C
|
rs775972133
|
0.00009
|
|
NM_000532.5(PCCB):c.885-4A>C
|
rs535943678
|
0.00009
|
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
|
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)
|
rs545886514
|
0.00009
|
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
|
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=)
|
rs140958543
|
0.00009
|
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
|
NM_001352514.2(HLCS):c.2088C>T (p.Val696=)
|
rs150794567
|
0.00009
|
|
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=)
|
rs138387445
|
0.00009
|
|
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=)
|
rs370117126
|
0.00009
|
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
|
NM_001370658.1(BTD):c.1047G>A (p.Pro349=)
|
rs140890299
|
0.00009
|
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
|
NM_001609.4(ACADSB):c.726G>A (p.Pro242=)
|
rs148114788
|
0.00009
|
|
NM_001698.3(AUH):c.20C>T (p.Ala7Val)
|
rs863223911
|
0.00009
|
|
NM_001698.3(AUH):c.998C>T (p.Pro333Leu)
|
rs541546111
|
0.00009
|
|
NM_002225.5(IVD):c.1139-9T>C
|
rs373295135
|
0.00009
|
|
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
|
rs368445200
|
0.00009
|
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
|
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=)
|
rs202099968
|
0.00009
|
|
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)
|
rs370251100
|
0.00009
|
|
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)
|
rs375755315
|
0.00009
|
|
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
|
rs782522290
|
0.00009
|
|
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)
|
rs199554411
|
0.00009
|
|
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)
|
rs376294666
|
0.00009
|
|
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)
|
rs367938014
|
0.00009
|
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
|
NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln)
|
rs749474432
|
0.00009
|
|
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala)
|
rs186756646
|
0.00009
|
|
NM_014384.3(ACAD8):c.567+8C>T
|
rs574233188
|
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_018368.4(LMBRD1):c.1023C>T (p.Phe341=)
|
rs765215874
|
0.00009
|
|
NM_018368.4(LMBRD1):c.405+8T>C
|
rs375415974
|
0.00009
|
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
|
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
|
rs144631139
|
0.00009
|
|
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala)
|
rs377766896
|
0.00009
|
|
NM_030813.6(CLPB):c.736+2T>C
|
rs201350869
|
0.00009
|
|
NM_032861.4(SERAC1):c.487+19C>T
|
rs372997779
|
0.00009
|
|
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser)
|
rs546374310
|
0.00009
|
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
|
NM_172250.3(MMAA):c.7A>G (p.Met3Val)
|
rs527340737
|
0.00009
|
|
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
|
rs374795215
|
0.00009
|
|
NC_000019.10:g.45529193A>G
|
rs535476484
|
0.00008
|
|
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
|
rs577313004
|
0.00008
|
|
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp)
|
rs199952982
|
0.00008
|
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
|
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln)
|
rs187346936
|
0.00008
|
|
NM_000282.4(PCCA):c.1540+20T>C
|
rs754203055
|
0.00008
|
|
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile)
|
rs201570336
|
0.00008
|
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
|
NM_000282.4(PCCA):c.638-10C>T
|
rs763390049
|
0.00008
|
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
|
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile)
|
rs376903098
|
0.00008
|
|
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
|
rs746277054
|
0.00008
|
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
|
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter)
|
rs200154326
|
0.00008
|
|
NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)
|
rs144894218
|
0.00008
|
|
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)
|
rs374420253
|
0.00008
|
|
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)
|
rs781840891
|
0.00008
|
|
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala)
|
rs782762959
|
0.00008
|
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
|
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=)
|
rs782684668
|
0.00008
|
|
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)
|
rs200185893
|
0.00008
|
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
|
NM_014384.3(ACAD8):c.842-18G>A
|
rs578153873
|
0.00008
|
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
|
NM_015702.3(MMADHC):c.610-12C>A
|
rs371855955
|
0.00008
|
|
NM_018368.4(LMBRD1):c.1188+17del
|
rs538437940
|
0.00008
|
|
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn)
|
rs200639044
|
0.00008
|
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
|
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly)
|
rs142629318
|
0.00008
|
|
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
|
rs537530231
|
0.00008
|
|
NM_032861.4(SERAC1):c.1403+11C>T
|
rs369586400
|
0.00008
|
|
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
|
rs370340688
|
0.00008
|
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
|
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)
|
rs6812252
|
0.00008
|
|
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr)
|
rs201183545
|
0.00007
|
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
|
NM_000532.5(PCCB):c.430-5C>G
|
rs369339939
|
0.00007
|
|
NM_000532.5(PCCB):c.8C>T (p.Ala3Val)
|
rs373685372
|
0.00007
|
|
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys)
|
rs148578333
|
0.00007
|
|
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)
|
rs759448696
|
0.00007
|
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
|
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=)
|
rs200323616
|
0.00007
|
|
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
|
rs139361195
|
0.00007
|
|
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu)
|
rs538184539
|
0.00007
|
|
NM_001258392.3(CLPB):c.921C>T (p.Phe307=)
|
rs561993207
|
0.00007
|
|
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
|
rs745652723
|
0.00007
|
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
|
NM_001352514.2(HLCS):c.816C>T (p.Ala272=)
|
rs376665169
|
0.00007
|
|
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)
|
rs781065270
|
0.00007
|
|
NM_001370658.1(BTD):c.1539G>A (p.Ala513=)
|
rs745376296
|
0.00007
|
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
|
NM_002225.5(IVD):c.903C>T (p.His301=)
|
rs759116078
|
0.00007
|
|
NM_005050.4(ABCD4):c.1752+5C>T
|
rs370270229
|
0.00007
|
|
NM_005050.4(ABCD4):c.425+6C>T
|
rs368213518
|
0.00007
|
|
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
|
rs143479125
|
0.00007
|
|
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
|
rs753233201
|
0.00007
|
|
NM_005334.3(HCFC1):c.1085-16C>G
|
rs201181843
|
0.00007
|
|
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
|
rs782754046
|
0.00007
|
|
NM_005334.3(HCFC1):c.2029-9C>G
|
rs374910917
|
0.00007
|
|
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=)
|
rs782058954
|
0.00007
|
|
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met)
|
rs183246703
|
0.00007
|
|
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)
|
rs781949446
|
0.00007
|
|
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)
|
rs374047752
|
0.00007
|
|
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr)
|
rs121908418
|
0.00007
|
|
NM_014384.3(ACAD8):c.984C>T (p.Ala328=)
|
rs766640729
|
0.00007
|
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
|
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
|
rs373384350
|
0.00007
|
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
0.00007
|
|
NM_018368.4(LMBRD1):c.636+14G>T
|
rs376670737
|
0.00007
|
|
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
|
rs142507365
|
0.00007
|
|
NM_022132.5(MCCC2):c.1488+10G>A
|
rs190514867
|
0.00007
|
|
NM_022132.5(MCCC2):c.738+16C>T
|
rs554502924
|
0.00007
|
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
|
NM_145261.4(DNAJC19):c.280+2dup
|
rs756616792
|
0.00007
|
|
NM_172250.3(MMAA):c.1236A>G (p.Lys412=)
|
rs184111056
|
0.00007
|
|
NM_172250.3(MMAA):c.733+13T>C
|
rs768662983
|
0.00007
|
|
NM_172250.3(MMAA):c.977G>A (p.Arg326His)
|
rs201547892
|
0.00007
|
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
|
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
|
rs142942001
|
0.00006
|
|
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)
|
rs139799938
|
0.00006
|
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
|
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
|
rs1370242689
|
0.00006
|
|
NM_000282.4(PCCA):c.1350A>G (p.Ser450=)
|
rs755614638
|
0.00006
|
|
NM_000282.4(PCCA):c.1515C>T (p.Ser505=)
|
rs201162791
|
0.00006
|
|
NM_000282.4(PCCA):c.1713C>T (p.Thr571=)
|
rs778536273
|
0.00006
|
|
NM_000282.4(PCCA):c.1900-15T>G
|
rs769815745
|
0.00006
|
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
|
NM_000282.4(PCCA):c.483C>T (p.Val161=)
|
rs370402818
|
0.00006
|
|
NM_000282.4(PCCA):c.716+19T>C
|
rs201320992
|
0.00006
|
|
NM_000532.5(PCCB):c.1198+11G>C
|
rs952515018
|
0.00006
|
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
|
NM_000532.5(PCCB):c.554C>T (p.Thr185Met)
|
rs369612150
|
0.00006
|
|
NM_000532.5(PCCB):c.641C>T (p.Thr214Met)
|
rs375740942
|
0.00006
|
|
NM_000532.5(PCCB):c.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
|
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn)
|
rs757845027
|
0.00006
|
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
|
NM_000532.5(PCCB):c.966+17T>C
|
rs752703797
|
0.00006
|
|
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=)
|
rs746564011
|
0.00006
|
|
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=)
|
rs560101290
|
0.00006
|
|
NM_001243279.3(ACSF3):c.720C>T (p.His240=)
|
rs778493922
|
0.00006
|
|
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)
|
rs774006607
|
0.00006
|
|
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=)
|
rs200950385
|
0.00006
|
|
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
|
rs377372785
|
0.00006
|
|
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe)
|
rs559592563
|
0.00006
|
|
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=)
|
rs147296630
|
0.00006
|
|
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=)
|
rs140281600
|
0.00006
|
|
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys)
|
rs140963713
|
0.00006
|
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
|
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)
|
rs73196003
|
0.00006
|
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
|
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=)
|
rs141905941
|
0.00006
|
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
|
NM_001352514.2(HLCS):c.2450+7G>C
|
rs373944714
|
0.00006
|
|
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
|
rs761147008
|
0.00006
|
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
|
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)
|
rs201852672
|
0.00006
|
|
NM_001370658.1(BTD):c.522C>T (p.Phe174=)
|
rs750363004
|
0.00006
|
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
|
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
|
rs150034487
|
0.00006
|
|
NM_001609.4(ACADSB):c.757T>C (p.Leu253=)
|
rs776888756
|
0.00006
|
|
NM_001698.3(AUH):c.1004G>A (p.Arg335His)
|
rs529693736
|
0.00006
|
|
NM_001698.3(AUH):c.656-8C>T
|
rs199879150
|
0.00006
|
|
NM_001698.3(AUH):c.720G>A (p.Ala240=)
|
rs780040124
|
0.00006
|
|
NM_001698.3(AUH):c.843+13A>G
|
rs747375365
|
0.00006
|
|
NM_002225.5(IVD):c.234+13G>A
|
rs762088213
|
0.00006
|
|
NM_002225.5(IVD):c.286+8T>C
|
rs769702849
|
0.00006
|
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
|
NM_005050.4(ABCD4):c.1518G>A (p.Val506=)
|
rs372838114
|
0.00006
|
|
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=)
|
rs776137988
|
0.00006
|
|
NM_005334.3(HCFC1):c.1084+8C>T
|
rs367698803
|
0.00006
|
|
NM_005334.3(HCFC1):c.1803+13C>T
|
rs368179780
|
0.00006
|
|
NM_005334.3(HCFC1):c.1803+7G>A
|
rs782241441
|
0.00006
|
|
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=)
|
rs782207714
|
0.00006
|
|
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)
|
rs372071273
|
0.00006
|
|
NM_014362.4(HIBCH):c.312G>A (p.Ser104=)
|
rs201502204
|
0.00006
|
|
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)
|
rs367996531
|
0.00006
|
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
|
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser)
|
rs200170162
|
0.00006
|
|
NM_014384.3(ACAD8):c.846C>G (p.Ser282=)
|
rs200330956
|
0.00006
|
|
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)
|
rs751260935
|
0.00006
|
|
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)
|
rs528744719
|
0.00006
|
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
|
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
|
rs569132013
|
0.00006
|
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
|
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)
|
rs745423033
|
0.00006
|
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)
|
rs375328924
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=)
|
rs761693513
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
|
NM_018368.4(LMBRD1):c.637-13G>A
|
rs776621535
|
0.00006
|
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
|
NM_020166.5(MCCC1):c.1083+10T>A
|
rs374971501
|
0.00006
|
|
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
|
rs146689034
|
0.00006
|
|
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr)
|
rs371795972
|
0.00006
|
|
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=)
|
rs768167603
|
0.00006
|
|
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=)
|
rs750602906
|
0.00006
|
|
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met)
|
rs762639338
|
0.00006
|
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
|
NM_020166.5(MCCC1):c.384A>C (p.Gly128=)
|
rs139091481
|
0.00006
|
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
|
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=)
|
rs373146322
|
0.00006
|
|
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=)
|
rs548725229
|
0.00006
|
|
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=)
|
rs779855532
|
0.00006
|
|
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
|
rs367635502
|
0.00006
|
|
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
|
rs553598004
|
0.00006
|
|
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp)
|
rs149056885
|
0.00006
|
|
NM_030813.6(CLPB):c.735C>T (p.Gly245=)
|
rs201151763
|
0.00006
|
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
|
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
|
rs143935056
|
0.00006
|
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
|
NM_145261.4(DNAJC19):c.210-7T>A
|
rs779367415
|
0.00006
|
|
NM_145261.4(DNAJC19):c.280+5G>C
|
rs762722601
|
0.00006
|
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
|
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
|
rs758654806
|
0.00006
|
|
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
|
rs377228966
|
0.00006
|
|
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
|
rs200729208
|
0.00005
|
|
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
|
rs764674778
|
0.00005
|
|
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln)
|
rs200498630
|
0.00005
|
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
|
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)
|
rs146306707
|
0.00005
|
|
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
|
rs147752765
|
0.00005
|
|
NM_000191.3(HMGCL):c.561+8C>G
|
rs372648949
|
0.00005
|
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
|
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg)
|
rs192543675
|
0.00005
|
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
|
NM_000532.5(PCCB):c.544-10G>A
|
rs759150582
|
0.00005
|
|
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
|
rs148056730
|
0.00005
|
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
|
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser)
|
rs778955184
|
0.00005
|
|
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)
|
rs777928520
|
0.00005
|
|
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)
|
rs780364085
|
0.00005
|
|
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)
|
rs745633046
|
0.00005
|
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
|
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=)
|
rs368192538
|
0.00005
|
|
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=)
|
rs550622194
|
0.00005
|
|
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
|
rs570233664
|
0.00005
|
|
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=)
|
rs547364848
|
0.00005
|
|
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val)
|
rs373383193
|
0.00005
|
|
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
|
rs200299650
|
0.00005
|
|
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=)
|
rs199965220
|
0.00005
|
|
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
|
rs374538248
|
0.00005
|
|
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
|
rs200063494
|
0.00005
|
|
NM_001258392.3(CLPB):c.651G>C (p.Leu217=)
|
rs375214732
|
0.00005
|
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
|
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
|
rs375809125
|
0.00005
|
|
NM_001370658.1(BTD):c.1188C>T (p.His396=)
|
rs372039874
|
0.00005
|
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
|
NM_001370658.1(BTD):c.39C>T (p.Cys13=)
|
rs201564216
|
0.00005
|
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
|
NM_001609.4(ACADSB):c.1128+1G>A
|
rs1564754571
|
0.00005
|
|
NM_001609.4(ACADSB):c.1145C>T (p.Thr382Met)
|
rs772084235
|
0.00005
|
|
NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)
|
rs747291865
|
0.00005
|
|
NM_001609.4(ACADSB):c.603C>G (p.Leu201=)
|
rs368834489
|
0.00005
|
|
NM_001609.4(ACADSB):c.682-20G>A
|
rs142778552
|
0.00005
|
|
NM_001698.3(AUH):c.158G>T (p.Gly53Val)
|
rs747819278
|
0.00005
|
|
NM_001698.3(AUH):c.795C>T (p.Asp265=)
|
rs761573002
|
0.00005
|
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
|
NM_002225.5(IVD):c.111T>C (p.Asp37=)
|
rs887220079
|
0.00005
|
|
NM_002225.5(IVD):c.1122C>T (p.Asp374=)
|
rs372504234
|
0.00005
|
|
NM_002225.5(IVD):c.303C>T (p.Ser101=)
|
rs749482459
|
0.00005
|
|
NM_002225.5(IVD):c.816T>C (p.Gly272=)
|
rs753508865
|
0.00005
|
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986
|
0.00005
|
|
NM_005050.4(ABCD4):c.1028+5G>A
|
rs533842238
|
0.00005
|
|
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=)
|
rs561519173
|
0.00005
|
|
NM_005050.4(ABCD4):c.249A>G (p.Thr83=)
|
rs773214307
|
0.00005
|
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
|
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=)
|
rs781810369
|
0.00005
|
|
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=)
|
rs200268397
|
0.00005
|
|
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=)
|
rs201117046
|
0.00005
|
|
NM_005334.3(HCFC1):c.1606-13G>A
|
rs782300809
|
0.00005
|
|
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=)
|
rs371233332
|
0.00005
|
|
NM_005334.3(HCFC1):c.1804-18C>T
|
rs1057522797
|
0.00005
|
|
NM_005334.3(HCFC1):c.2134-20C>A
|
rs368718262
|
0.00005
|
|
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)
|
rs1459988694
|
0.00005
|
|
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=)
|
rs782017804
|
0.00005
|
|
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
|
rs782045987
|
0.00005
|
|
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met)
|
rs782413424
|
0.00005
|
|
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)
|
rs782670703
|
0.00005
|
|
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=)
|
rs781804858
|
0.00005
|
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
|
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)
|
rs782354655
|
0.00005
|
|
NM_014384.3(ACAD8):c.408C>T (p.Phe136=)
|
rs143408080
|
0.00005
|
|
NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu)
|
rs374584216
|
0.00005
|
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
|
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met)
|
rs767657325
|
0.00005
|
|
NM_018368.4(LMBRD1):c.474-20A>G
|
rs952976480
|
0.00005
|
|
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
|
rs142962811
|
0.00005
|
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
|
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
|
rs202192191
|
0.00005
|
|
NM_020166.5(MCCC1):c.2050-17G>C
|
rs371009096
|
0.00005
|
|
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val)
|
rs776594363
|
0.00005
|
|
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
|
rs762409158
|
0.00005
|
|
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
|
rs774812912
|
0.00005
|
|
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=)
|
rs200915932
|
0.00005
|
|
NM_022132.5(MCCC2):c.384-20A>G
|
rs770917710
|
0.00005
|
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
|
NM_022132.5(MCCC2):c.72C>T (p.His24=)
|
rs374686220
|
0.00005
|
|
NM_030813.6(CLPB):c.660C>T (p.Asp220=)
|
rs759358526
|
0.00005
|
|
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
|
rs367711757
|
0.00005
|
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
|
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)
|
rs767115507
|
0.00005
|
|
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
|
rs371779800
|
0.00005
|
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
|
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
|
rs140031911
|
0.00005
|
|
NM_000019.4(ACAT1):c.1006-17C>G
|
rs1409314804
|
0.00004
|
|
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
|
rs201500937
|
0.00004
|
|
NM_000019.4(ACAT1):c.384A>G (p.Ser128=)
|
rs374439037
|
0.00004
|
|
NM_000019.4(ACAT1):c.436-5C>T
|
rs369472868
|
0.00004
|
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
|
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
|
rs373393997
|
0.00004
|
|
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)
|
rs370720208
|
0.00004
|
|
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
|
rs759659537
|
0.00004
|
|
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
|
rs772087249
|
0.00004
|
|
NM_000019.4(ACAT1):c.730+12G>A
|
rs559179516
|
0.00004
|
|
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)
|
rs370652435
|
0.00004
|
|
NM_000019.4(ACAT1):c.918T>A (p.Val306=)
|
rs200318899
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)
|
rs782471244
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
|
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.40G>C (p.Gly14Arg)
|
rs764292245
|
0.00004
|
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
|
NM_000191.3(HMGCL):c.717T>G (p.Gly239=)
|
rs370708710
|
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_000282.4(PCCA):c.1176C>T (p.Asn392=)
|
rs138597181
|
0.00004
|
|
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu)
|
rs532947142
|
0.00004
|
|
NM_000282.4(PCCA):c.184-6C>T
|
rs542777393
|
0.00004
|
|
NM_000282.4(PCCA):c.2025C>G (p.Val675=)
|
rs891946343
|
0.00004
|
|
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val)
|
rs376383373
|
0.00004
|
|
NM_000282.4(PCCA):c.2040+11T>C
|
rs200641726
|
0.00004
|
|
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr)
|
rs376535469
|
0.00004
|
|
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
|
rs764005205
|
0.00004
|
|
NM_000282.4(PCCA):c.525C>T (p.Gly175=)
|
rs151168308
|
0.00004
|
|
NM_000282.4(PCCA):c.645T>G (p.Pro215=)
|
rs751840442
|
0.00004
|
|
NM_000282.4(PCCA):c.768T>C (p.Asp256=)
|
rs1239656926
|
0.00004
|
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
|
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
|
rs759223615
|
0.00004
|
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
|
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser)
|
rs746240889
|
0.00004
|
|
NM_000532.5(PCCB):c.1371C>T (p.Thr457=)
|
rs140630332
|
0.00004
|
|
NM_000532.5(PCCB):c.1498+10T>G
|
rs777201996
|
0.00004
|
|
NM_000532.5(PCCB):c.1499-20C>T
|
rs183824739
|
0.00004
|
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
|
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr)
|
rs371406048
|
0.00004
|
|
NM_000532.5(PCCB):c.183+17C>T
|
rs776965589
|
0.00004
|
|
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
|
rs150449954
|
0.00004
|
|
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
|
rs770601332
|
0.00004
|
|
NM_000532.5(PCCB):c.372+17A>G
|
rs192106664
|
0.00004
|
|
NM_000532.5(PCCB):c.402A>G (p.Ser134=)
|
rs200988668
|
0.00004
|
|
NM_000532.5(PCCB):c.51G>A (p.Leu17=)
|
rs1262464904
|
0.00004
|
|
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
|
rs141956198
|
0.00004
|
|
NM_000532.5(PCCB):c.663C>G (p.Ser221=)
|
rs771455499
|
0.00004
|
|
NM_000532.5(PCCB):c.764-3T>C
|
rs147939913
|
0.00004
|
|
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys)
|
rs771935604
|
0.00004
|
|
NM_000532.5(PCCB):c.950T>A (p.Val317Glu)
|
rs762758029
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=)
|
rs201792144
|
0.00004
|
|
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)
|
rs144711526
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=)
|
rs3743984
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)
|
rs200029061
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
|
rs761852278
|
0.00004
|
|
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)
|
rs776314400
|
0.00004
|
|
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)
|
rs757905943
|
0.00004
|
|
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)
|
rs752338222
|
0.00004
|
|
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)
|
rs377732201
|
0.00004
|
|
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
|
rs755163107
|
0.00004
|
|
NM_001243279.3(ACSF3):c.666+9C>T
|
rs767663198
|
0.00004
|
|
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)
|
rs377354800
|
0.00004
|
|
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=)
|
rs765643653
|
0.00004
|
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
|
NM_001243279.3(ACSF3):c.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
|
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=)
|
rs538912422
|
0.00004
|
|
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
|
rs774722200
|
0.00004
|
|
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
|
rs758906536
|
0.00004
|
|
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
|
rs758613799
|
0.00004
|
|
NM_001258392.3(CLPB):c.51C>A (p.Leu17=)
|
rs371869002
|
0.00004
|
|
NM_001258392.3(CLPB):c.543-20_543-18del
|
rs759265435
|
0.00004
|
|
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg)
|
rs756161923
|
0.00004
|
|
NM_001258392.3(CLPB):c.646+7371C>T
|
rs369768699
|
0.00004
|
|
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
|
rs547532550
|
0.00004
|
|
NM_001352514.2(HLCS):c.1621-9A>G
|
rs374646852
|
0.00004
|
|
NM_001352514.2(HLCS):c.1961-7G>C
|
rs145472697
|
0.00004
|
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
|
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)
|
rs532108774
|
0.00004
|
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
|
NM_001352514.2(HLCS):c.709G>A (p.Asp237Asn)
|
rs780948465
|
0.00004
|
|
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
|
NM_001370658.1(BTD):c.-38G>A
|
rs138473616
|
0.00004
|
|
NM_001370658.1(BTD):c.-46T>C
|
rs374044613
|
0.00004
|
|
NM_001370658.1(BTD):c.1014T>C (p.His338=)
|
rs371365798
|
0.00004
|
|
NM_001370658.1(BTD):c.123C>T (p.Ala41=)
|
rs747945967
|
0.00004
|
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
|
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)
|
rs201877440
|
0.00004
|
|
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
|
rs374629804
|
0.00004
|
|
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)
|
rs150022323
|
0.00004
|
|
NM_001609.4(ACADSB):c.510+13G>C
|
rs773089971
|
0.00004
|
|
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr)
|
rs761098384
|
0.00004
|
|
NM_001698.3(AUH):c.117G>C (p.Ser39=)
|
rs759828827
|
0.00004
|
|
NM_001698.3(AUH):c.330+9A>G
|
rs145402420
|
0.00004
|
|
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)
|
rs137939308
|
0.00004
|
|
NM_001698.3(AUH):c.656-2_656-1del
|
rs757748207
|
0.00004
|
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
|
NM_001698.3(AUH):c.844-20T>C
|
rs769924401
|
0.00004
|
|
NM_002225.5(IVD):c.1005G>A (p.Ala335=)
|
rs570369496
|
0.00004
|
|
NM_002225.5(IVD):c.1041C>T (p.Cys347=)
|
rs371770434
|
0.00004
|
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
0.00004
|
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
|
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
|
rs150855952
|
0.00004
|
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
|
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
rs375138989
|
0.00004
|
|
NM_002225.5(IVD):c.784+20G>A
|
rs375795386
|
0.00004
|
|
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)
|
rs374984401
|
0.00004
|
|
NM_005050.4(ABCD4):c.1327+8C>T
|
rs199678602
|
0.00004
|
|
NM_005050.4(ABCD4):c.1752+7G>A
|
rs376322555
|
0.00004
|
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
|
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
|
rs747354548
|
0.00004
|
|
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
|
rs139683556
|
0.00004
|
|
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
|
rs181943870
|
0.00004
|
|
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)
|
rs782501125
|
0.00004
|
|
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=)
|
rs782250826
|
0.00004
|
|
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met)
|
rs782410390
|
0.00004
|
|
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=)
|
rs782820533
|
0.00004
|
|
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)
|
rs782407440
|
0.00004
|
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
|
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=)
|
rs923295564
|
0.00004
|
|
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=)
|
rs1422949741
|
0.00004
|
|
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
|
rs1342469676
|
0.00004
|
|
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=)
|
rs782064674
|
0.00004
|
|
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=)
|
rs782369645
|
0.00004
|
|
NM_005334.3(HCFC1):c.6004+14G>A
|
rs371228352
|
0.00004
|
|
NM_005334.3(HCFC1):c.984C>T (p.Val328=)
|
rs782409511
|
0.00004
|
|
NM_014362.4(HIBCH):c.550T>C (p.Leu184=)
|
rs777785491
|
0.00004
|
|
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser)
|
rs768954546
|
0.00004
|
|
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)
|
rs200234092
|
0.00004
|
|
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)
|
rs371449613
|
0.00004
|
|
NM_014384.3(ACAD8):c.615C>T (p.Cys205=)
|
rs200275294
|
0.00004
|
|
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr)
|
rs577976129
|
0.00004
|
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
|
NM_015506.3(MMACHC):c.423G>C (p.Gly141=)
|
rs1035201847
|
0.00004
|
|
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
|
rs141562335
|
0.00004
|
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
|
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
|
rs779575471
|
0.00004
|
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
|
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His)
|
rs150831620
|
0.00004
|
|
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln)
|
rs777374813
|
0.00004
|
|
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=)
|
rs779802824
|
0.00004
|
|
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=)
|
rs751525924
|
0.00004
|
|
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)
|
rs373481039
|
0.00004
|
|
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=)
|
rs139154326
|
0.00004
|
|
NM_018368.4(LMBRD1):c.562+19A>T
|
rs200488577
|
0.00004
|
|
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
|
rs370829456
|
0.00004
|
|
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
|
rs772119224
|
0.00004
|
|
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
|
rs529198629
|
0.00004
|
|
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=)
|
rs766287809
|
0.00004
|
|
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=)
|
rs140579569
|
0.00004
|
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
|
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=)
|
rs373049854
|
0.00004
|
|
NM_020166.5(MCCC1):c.136+7A>G
|
rs559629034
|
0.00004
|
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
|
NM_020166.5(MCCC1):c.165A>G (p.Ala55=)
|
rs373199843
|
0.00004
|
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
|
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
|
rs143892743
|
0.00004
|
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
|
NM_020166.5(MCCC1):c.1A>G (p.Met1Val)
|
rs762463914
|
0.00004
|
|
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln)
|
rs780352053
|
0.00004
|
|
NM_020166.5(MCCC1):c.66C>T (p.Leu22=)
|
rs750778690
|
0.00004
|
|
NM_020166.5(MCCC1):c.873G>A (p.Ala291=)
|
rs138794621
|
0.00004
|
|
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
|
rs753784414
|
0.00004
|
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
|
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)
|
rs750965429
|
0.00004
|
|
NM_022132.5(MCCC2):c.1488+3C>T
|
rs374049769
|
0.00004
|
|
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=)
|
rs765801018
|
0.00004
|
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
|
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
|
rs770437473
|
0.00004
|
|
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile)
|
rs553444289
|
0.00004
|
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
|
NM_022132.5(MCCC2):c.999+16A>G
|
rs1241526106
|
0.00004
|
|
NM_025136.4(OPA3):c.303C>T (p.Tyr101=)
|
rs752010426
|
0.00004
|
|
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)
|
rs755348694
|
0.00004
|
|
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter)
|
rs374473067
|
0.00004
|
|
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)
|
rs746357833
|
0.00004
|
|
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=)
|
rs201331072
|
0.00004
|
|
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)
|
rs756639108
|
0.00004
|
|
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
|
NM_032861.4(SERAC1):c.355+10C>T
|
rs760497677
|
0.00004
|
|
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
|
rs863224200
|
0.00004
|
|
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)
|
rs536508664
|
0.00004
|
|
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)
|
rs543967244
|
0.00004
|
|
NM_032861.4(SERAC1):c.660A>G (p.Gln220=)
|
rs776026202
|
0.00004
|
|
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
|
rs375757326
|
0.00004
|
|
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg)
|
rs754908475
|
0.00004
|
|
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met)
|
rs745441822
|
0.00004
|
|
NM_032861.4(SERAC1):c.92-16T>C
|
rs201656768
|
0.00004
|
|
NM_032861.4(SERAC1):c.999T>C (p.Ser333=)
|
rs746668292
|
0.00004
|
|
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
|
rs752857938
|
0.00004
|
|
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)
|
rs762404377
|
0.00004
|
|
NM_052845.4(MMAB):c.348+17C>T
|
rs202141416
|
0.00004
|
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
|
NM_052845.4(MMAB):c.471C>T (p.Ile157=)
|
rs369581051
|
0.00004
|
|
NM_052845.4(MMAB):c.52C>A (p.Leu18Met)
|
rs374802787
|
0.00004
|
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
|
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)
|
rs141007488
|
0.00004
|
|
NM_145261.4(DNAJC19):c.280+1G>A
|
rs774006022
|
0.00004
|
|
NM_172250.3(MMAA):c.378A>G (p.Val126=)
|
rs750237065
|
0.00004
|
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
|
NM_172250.3(MMAA):c.562+11C>T
|
rs746737805
|
0.00004
|
|
NM_172250.3(MMAA):c.610A>G (p.Met204Val)
|
rs370375675
|
0.00004
|
|
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)
|
rs375682603
|
0.00004
|
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
|
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
|
rs149171104
|
0.00003
|
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
|
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
|
rs772625970
|
0.00003
|
|
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
|
rs754478568
|
0.00003
|
|
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
|
rs752592672
|
0.00003
|
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)
|
rs143525004
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
|
rs150583937
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
|
NM_000191.3(HMGCL):c.349-3C>A
|
rs777476731
|
0.00003
|
|
NM_000191.3(HMGCL):c.453C>T (p.Asp151=)
|
rs148943423
|
0.00003
|
|
NM_000191.3(HMGCL):c.60+18C>T
|
rs1012054316
|
0.00003
|
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
|
NM_000191.3(HMGCL):c.6A>G (p.Ala2=)
|
rs375969301
|
0.00003
|
|
NM_000191.3(HMGCL):c.774T>C (p.Ser258=)
|
rs568796561
|
0.00003
|
|
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
|
rs759745527
|
0.00003
|
|
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg)
|
rs905391740
|
0.00003
|
|
NM_000282.4(PCCA):c.1342A>G (p.Met448Val)
|
rs767060690
|
0.00003
|
|
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln)
|
rs183239835
|
0.00003
|
|
NM_000282.4(PCCA):c.1576T>C (p.Leu526=)
|
rs564315582
|
0.00003
|
|
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)
|
rs887791543
|
0.00003
|
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
|
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
|
rs145428347
|
0.00003
|
|
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
|
rs200710812
|
0.00003
|
|
NM_000282.4(PCCA):c.33G>T (p.Leu11=)
|
rs922002208
|
0.00003
|
|
NM_000282.4(PCCA):c.414+19A>G
|
rs531469612
|
0.00003
|
|
NM_000282.4(PCCA):c.415-9A>G
|
rs1057520932
|
0.00003
|
|
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu)
|
rs773397570
|
0.00003
|
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
0.00003
|
|
NM_000282.4(PCCA):c.915-18A>T
|
rs780272314
|
0.00003
|
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
|
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
|
rs770341883
|
0.00003
|
|
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser)
|
rs752758930
|
0.00003
|
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
|
NM_000532.5(PCCB):c.1399-5C>T
|
rs575227657
|
0.00003
|
|
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala)
|
rs1027171385
|
0.00003
|
|
NM_000532.5(PCCB):c.1569C>G (p.Ala523=)
|
rs1418405958
|
0.00003
|
|
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
|
rs1422527852
|
0.00003
|
|
NM_000532.5(PCCB):c.372+15C>T
|
rs370726053
|
0.00003
|
|
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
|
rs749989578
|
0.00003
|
|
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp)
|
rs373189621
|
0.00003
|
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
|
NM_000532.5(PCCB):c.654+12G>T
|
rs770141659
|
0.00003
|
|
NM_000532.5(PCCB):c.855G>A (p.Pro285=)
|
rs982512877
|
0.00003
|
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
|
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
|
rs139600424
|
0.00003
|
|
NM_000532.5(PCCB):c.967-14A>G
|
rs1011978513
|
0.00003
|
|
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
|
rs748708704
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=)
|
rs374451559
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1501+11G>A
|
rs770771724
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1502-5C>T
|
rs577763495
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)
|
rs139813770
|
0.00003
|
|
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)
|
rs147044602
|
0.00003
|
|
NM_001243279.3(ACSF3):c.18G>A (p.Val6=)
|
rs375071176
|
0.00003
|
|
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)
|
rs751551226
|
0.00003
|
|
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)
|
rs901932797
|
0.00003
|
|
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=)
|
rs771481057
|
0.00003
|
|
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)
|
rs757199694
|
0.00003
|
|
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)
|
rs748625786
|
0.00003
|
|
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
|
rs751461445
|
0.00003
|
|
NM_001243279.3(ACSF3):c.810C>T (p.Phe270=)
|
rs143501853
|
0.00003
|
|
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
|
rs754161182
|
0.00003
|
|
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)
|
rs200352879
|
0.00003
|
|
NM_001243279.3(ACSF3):c.978-4G>A
|
rs370451473
|
0.00003
|
|
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
|
rs1336037926
|
0.00003
|
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
|
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln)
|
rs576652298
|
0.00003
|
|
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)
|
rs778761751
|
0.00003
|
|
NM_001258392.3(CLPB):c.1786-3C>T
|
rs372126133
|
0.00003
|
|
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
|
rs1004490311
|
0.00003
|
|
NM_001258392.3(CLPB):c.249C>T (p.Leu83=)
|
rs200845330
|
0.00003
|
|
NM_001258392.3(CLPB):c.543-12G>C
|
rs750871760
|
0.00003
|
|
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)
|
rs200032855
|
0.00003
|
|
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln)
|
rs762784246
|
0.00003
|
|
NM_001258392.3(CLPB):c.990G>A (p.Ala330=)
|
rs765172842
|
0.00003
|
|
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=)
|
rs768927843
|
0.00003
|
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
|
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
|
rs775832153
|
0.00003
|
|
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
|
rs749728724
|
0.00003
|
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
|
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=)
|
rs375456567
|
0.00003
|
|
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
|
rs370277326
|
0.00003
|
|
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)
|
rs199517800
|
0.00003
|
|
NM_001352514.2(HLCS):c.2451-8C>G
|
rs373177254
|
0.00003
|
|
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
|
rs761596791
|
0.00003
|
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
|
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
|
rs139989284
|
0.00003
|
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
0.00003
|
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
|
NM_001370658.1(BTD):c.1456C>T (p.Leu486=)
|
rs774018881
|
0.00003
|
|
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)
|
rs397514355
|
0.00003
|
|
NM_001370658.1(BTD):c.400-10T>G
|
rs750494564
|
0.00003
|
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
|
NM_001370658.1(BTD):c.72C>T (p.Thr24=)
|
rs765550405
|
0.00003
|
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
|
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)
|
rs753466926
|
0.00003
|
|
NM_001609.4(ACADSB):c.1026G>A (p.Gln342=)
|
rs755539165
|
0.00003
|
|
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
|
rs760585344
|
0.00003
|
|
NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly)
|
rs1375520384
|
0.00003
|
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
|
NM_001698.3(AUH):c.506-9C>T
|
rs537751591
|
0.00003
|
|
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)
|
rs121434636
|
0.00003
|
|
NM_001698.3(AUH):c.657G>A (p.Gly219=)
|
rs141110052
|
0.00003
|
|
NM_001698.3(AUH):c.746A>G (p.Lys249Arg)
|
rs752072326
|
0.00003
|
|
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528
|
0.00003
|
|
NM_002225.5(IVD):c.1066-10C>T
|
rs774472099
|
0.00003
|
|
NM_002225.5(IVD):c.1066-4G>A
|
rs374193700
|
0.00003
|
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
|
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)
|
rs398123681
|
0.00003
|
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
|
NM_002225.5(IVD):c.576C>T (p.Asn192=)
|
rs756184085
|
0.00003
|
|
NM_002225.5(IVD):c.609C>T (p.Asp203=)
|
rs563452741
|
0.00003
|
|
NM_002225.5(IVD):c.785-9T>C
|
rs374999241
|
0.00003
|
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
|
NM_002225.5(IVD):c.873T>C (p.Pro291=)
|
rs537402391
|
0.00003
|
|
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
rs149247895
|
0.00003
|
|
NM_002225.5(IVD):c.960+8G>A
|
rs531429598
|
0.00003
|
|
NM_005050.4(ABCD4):c.1028+9G>A
|
rs982830151
|
0.00003
|
|
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)
|
rs747987460
|
0.00003
|
|
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
|
rs763882047
|
0.00003
|
|
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
|
rs371692280
|
0.00003
|
|
NM_005050.4(ABCD4):c.425+7G>A
|
rs375608814
|
0.00003
|
|
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)
|
rs782047045
|
0.00003
|
|
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)
|
rs782036588
|
0.00003
|
|
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=)
|
rs201614319
|
0.00003
|
|
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)
|
rs1603296223
|
0.00003
|
|
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)
|
rs782099695
|
0.00003
|
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
|
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)
|
rs372301724
|
0.00003
|
|
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)
|
rs781889604
|
0.00003
|
|
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)
|
rs201491358
|
0.00003
|
|
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)
|
rs782457287
|
0.00003
|
|
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)
|
rs111385795
|
0.00003
|
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
|
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
|
rs782313635
|
0.00003
|
|
NM_005334.3(HCFC1):c.504-9C>T
|
rs781961920
|
0.00003
|
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
|
NM_005334.3(HCFC1):c.5379+20G>A
|
rs371712410
|
0.00003
|
|
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)
|
rs1557112253
|
0.00003
|
|
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
|
rs369626014
|
0.00003
|
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
|
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter)
|
rs746960051
|
0.00003
|
|
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
|
rs763931975
|
0.00003
|
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
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_015506.3(MMACHC):c.831T>C (p.Pro277=)
|
rs1322086708
|
0.00003
|
|
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val)
|
rs561540830
|
0.00003
|
|
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val)
|
rs771282181
|
0.00003
|
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
|
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly)
|
rs759703455
|
0.00003
|
|
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=)
|
rs368135707
|
0.00003
|
|
NM_020166.5(MCCC1):c.1212C>T (p.His404=)
|
rs769780560
|
0.00003
|
|
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln)
|
rs761249521
|
0.00003
|
|
NM_020166.5(MCCC1):c.1314C>T (p.Val438=)
|
rs774243822
|
0.00003
|
|
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=)
|
rs757687424
|
0.00003
|
|
NM_020166.5(MCCC1):c.1377+17C>T
|
rs375624644
|
0.00003
|
|
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=)
|
rs547421709
|
0.00003
|
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
|
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
|
rs768011454
|
0.00003
|
|
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
|
rs182830931
|
0.00003
|
|
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)
|
rs905321122
|
0.00003
|
|
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=)
|
rs370727510
|
0.00003
|
|
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly)
|
rs992786696
|
0.00003
|
|
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
|
rs776138490
|
0.00003
|
|
NM_020166.5(MCCC1):c.300C>T (p.Pro100=)
|
rs747409426
|
0.00003
|
|
NM_020166.5(MCCC1):c.492-5T>C
|
rs775353666
|
0.00003
|
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
|
NM_020166.5(MCCC1):c.759G>A (p.Pro253=)
|
rs761851977
|
0.00003
|
|
NM_020166.5(MCCC1):c.78C>T (p.Leu26=)
|
rs760268547
|
0.00003
|
|
NM_020166.5(MCCC1):c.90-20C>T
|
rs369103962
|
0.00003
|
|
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
|
rs201238842
|
0.00003
|
|
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=)
|
rs1049308310
|
0.00003
|
|
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
|
rs767326357
|
0.00003
|
|
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=)
|
rs1266022580
|
0.00003
|
|
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=)
|
rs137961577
|
0.00003
|
|
NM_022132.5(MCCC2):c.219A>C (p.Ala73=)
|
rs1048291170
|
0.00003
|
|
NM_022132.5(MCCC2):c.25C>T (p.Leu9=)
|
rs1285116638
|
0.00003
|
|
NM_022132.5(MCCC2):c.282-8C>T
|
rs574221691
|
0.00003
|
|
NM_022132.5(MCCC2):c.637A>G (p.Met213Val)
|
rs769875413
|
0.00003
|
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
|
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)
|
rs549784997
|
0.00003
|
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
|
NM_022132.5(MCCC2):c.999+8A>G
|
rs575141754
|
0.00003
|
|
NM_025136.4(OPA3):c.143-5C>A
|
rs770452409
|
0.00003
|
|
NM_025136.4(OPA3):c.39C>T (p.Tyr13=)
|
rs374843726
|
0.00003
|
|
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)
|
rs755841329
|
0.00003
|
|
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
|
rs779852958
|
0.00003
|
|
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=)
|
rs774371194
|
0.00003
|
|
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
|
rs201941476
|
0.00003
|
|
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val)
|
rs368403843
|
0.00003
|
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
|
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)
|
rs765917146
|
0.00003
|
|
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
|
rs573706523
|
0.00003
|
|
NM_052845.4(MMAB):c.507C>T (p.Ala169=)
|
rs776916498
|
0.00003
|
|
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
|
rs368584846
|
0.00003
|
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
|
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
|
rs199853576
|
0.00003
|
|
NM_052845.4(MMAB):c.644+9G>A
|
rs748589454
|
0.00003
|
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
|
NM_172250.3(MMAA):c.563-12T>C
|
rs199938583
|
0.00003
|
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
|
NM_172250.3(MMAA):c.787C>T (p.Leu263=)
|
rs759947234
|
0.00003
|
|
NM_172250.3(MMAA):c.970-5G>A
|
rs370814663
|
0.00003
|
|
NM_000019.4(ACAT1):c.105A>G (p.Ser35=)
|
rs1442033328
|
0.00002
|
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
|
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
|
rs1407616925
|
0.00002
|
|
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
|
rs747201837
|
0.00002
|
|
NM_000019.4(ACAT1):c.288A>G (p.Gln96=)
|
rs969770311
|
0.00002
|
|
NM_000019.4(ACAT1):c.342T>A (p.Pro114=)
|
rs941750006
|
0.00002
|
|
NM_000019.4(ACAT1):c.436-7T>C
|
rs775534544
|
0.00002
|
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
|
NM_000019.4(ACAT1):c.579+11T>C
|
rs1191067994
|
0.00002
|
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
|
NM_000019.4(ACAT1):c.687G>A (p.Gly229=)
|
rs545578010
|
0.00002
|
|
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala)
|
rs746059964
|
0.00002
|
|
NM_000019.4(ACAT1):c.941-9T>G
|
rs980651269
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)
|
rs368329470
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
|
rs781986219
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)
|
rs782716787
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=)
|
rs781792950
|
0.00002
|
|
NM_000191.3(HMGCL):c.165G>A (p.Val55=)
|
rs1173716795
|
0.00002
|
|
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
|
rs1291707271
|
0.00002
|
|
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.324A>G (p.Pro108=)
|
rs932601140
|
0.00002
|
|
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly)
|
rs905961108
|
0.00002
|
|
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
|
rs377359510
|
0.00002
|
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
|
NM_000191.3(HMGCL):c.549T>A (p.Ala183=)
|
rs61743700
|
0.00002
|
|
NM_000191.3(HMGCL):c.564C>G (p.Val188=)
|
rs779911061
|
0.00002
|
|
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)
|
rs764360500
|
0.00002
|
|
NM_000191.3(HMGCL):c.636G>A (p.Gly212=)
|
rs1471029861
|
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_000191.3(HMGCL):c.804C>T (p.Tyr268=)
|
rs765198174
|
0.00002
|
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
|
NM_000191.3(HMGCL):c.843G>A (p.Leu281=)
|
rs773635833
|
0.00002
|
|
NM_000191.3(HMGCL):c.877-16A>G
|
rs763250288
|
0.00002
|
|
NM_000191.3(HMGCL):c.877-7C>T
|
rs750545040
|
0.00002
|
|
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
|
rs548833871
|
0.00002
|
|
NM_000282.4(PCCA):c.1285-4C>T
|
rs372262089
|
0.00002
|
|
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp)
|
rs776355907
|
0.00002
|
|
NM_000282.4(PCCA):c.146G>A (p.Arg49His)
|
rs570674073
|
0.00002
|
|
NM_000282.4(PCCA):c.1540+11A>G
|
rs374671328
|
0.00002
|
|
NM_000282.4(PCCA):c.1693T>C (p.Leu565=)
|
rs767365284
|
0.00002
|
|
NM_000282.4(PCCA):c.1747-8dup
|
rs753595587
|
0.00002
|
|
NM_000282.4(PCCA):c.183+18A>G
|
rs746021444
|
0.00002
|
|
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
|
rs780042764
|
0.00002
|
|
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
|
rs765451633
|
0.00002
|
|
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)
|
rs548026367
|
0.00002
|
|
NM_000282.4(PCCA):c.232-1G>A
|
rs794727620
|
0.00002
|
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00002
|
|
NM_000282.4(PCCA):c.318G>A (p.Ala106=)
|
rs752769607
|
0.00002
|
|
NM_000282.4(PCCA):c.469-6C>T
|
rs1411689584
|
0.00002
|
|
NM_000282.4(PCCA):c.50G>A (p.Arg17His)
|
rs768914819
|
0.00002
|
|
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn)
|
rs1047690554
|
0.00002
|
|
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)
|
rs766245108
|
0.00002
|
|
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)
|
rs369743452
|
0.00002
|
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
|
NM_000282.4(PCCA):c.689G>A (p.Arg230His)
|
rs747943045
|
0.00002
|
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
|
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
|
rs773749632
|
0.00002
|
|
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu)
|
rs750840362
|
0.00002
|
|
NM_000532.5(PCCB):c.1090+18T>C
|
rs775309894
|
0.00002
|
|
NM_000532.5(PCCB):c.1091-4C>G
|
rs759283485
|
0.00002
|
|
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile)
|
rs761529521
|
0.00002
|
|
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
|
rs1476876445
|
0.00002
|
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
|
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln)
|
rs375014273
|
0.00002
|
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
0.00002
|
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
|
NM_000532.5(PCCB):c.1499-14C>T
|
rs369168852
|
0.00002
|
|
NM_000532.5(PCCB):c.24G>T (p.Ala8=)
|
rs1057523611
|
0.00002
|
|
NM_000532.5(PCCB):c.30C>T (p.Val10=)
|
rs754303318
|
0.00002
|
|
NM_000532.5(PCCB):c.318C>T (p.Ser106=)
|
rs767388070
|
0.00002
|
|
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
|
rs372770908
|
0.00002
|
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
|
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
|
rs1454839953
|
0.00002
|
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
|
NM_000532.5(PCCB):c.939C>T (p.Ala313=)
|
rs369008776
|
0.00002
|
|
NM_000532.5(PCCB):c.945C>T (p.Asn315=)
|
rs766185451
|
0.00002
|
|
NM_000532.5(PCCB):c.996C>T (p.Ile332=)
|
rs773854246
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=)
|
rs776003939
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=)
|
rs150322170
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
|
rs1450563045
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
|
rs563580010
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
|
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
|
rs138156311
|
0.00002
|
|
NM_001243279.3(ACSF3):c.294C>G (p.Val98=)
|
rs1439239345
|
0.00002
|
|
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)
|
rs145969050
|
0.00002
|
|
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=)
|
rs749371364
|
0.00002
|
|
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
|
rs142575695
|
0.00002
|
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
|
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)
|
rs756599875
|
0.00002
|
|
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
|
rs771558691
|
0.00002
|
|
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=)
|
rs772996642
|
0.00002
|
|
NM_001243279.3(ACSF3):c.667-7C>T
|
rs770578916
|
0.00002
|
|
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)
|
rs145583876
|
0.00002
|
|
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=)
|
rs753810945
|
0.00002
|
|
NM_001243279.3(ACSF3):c.978-1G>A
|
rs756599931
|
0.00002
|
|
NM_001243279.3(ACSF3):c.978-5C>T
|
rs767914459
|
0.00002
|
|
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
|
rs893057489
|
0.00002
|
|
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
|
rs746582120
|
0.00002
|
|
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
|
rs369380599
|
0.00002
|
|
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
|
rs760399999
|
0.00002
|
|
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
|
rs748289105
|
0.00002
|
|
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
|
rs765245566
|
0.00002
|
|
NM_001258392.3(CLPB):c.1786-6C>T
|
rs191389918
|
0.00002
|
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
|
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu)
|
rs374729211
|
0.00002
|
|
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
|
rs777039470
|
0.00002
|
|
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
|
rs549191970
|
0.00002
|
|
NM_001258392.3(CLPB):c.692G>A (p.Arg231His)
|
rs772243585
|
0.00002
|
|
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
|
rs779228307
|
0.00002
|
|
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
|
rs139268876
|
0.00002
|
|
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala)
|
rs760759093
|
0.00002
|
|
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
|
rs368150943
|
0.00002
|
|
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
|
rs529206633
|
0.00002
|
|
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=)
|
rs1472760580
|
0.00002
|
|
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
|
rs543680851
|
0.00002
|
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
|
NM_001352514.2(HLCS):c.1548A>G (p.Thr516=)
|
rs144016759
|
0.00002
|
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
|
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)
|
rs776800808
|
0.00002
|
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
|
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
|
rs748819971
|
0.00002
|
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
|
NM_001352514.2(HLCS):c.2237-12G>C
|
rs1487390204
|
0.00002
|
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
|
NM_001352514.2(HLCS):c.2349C>T (p.Leu783=)
|
rs138952612
|
0.00002
|
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
|
NM_001352514.2(HLCS):c.477A>C (p.Val159=)
|
rs779019472
|
0.00002
|
|
NM_001352514.2(HLCS):c.519G>C (p.Leu173=)
|
rs142669894
|
0.00002
|
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
|
NM_001370658.1(BTD):c.-17+11G>A
|
rs563797222
|
0.00002
|
|
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
|
rs769903360
|
0.00002
|
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
|
NM_001370658.1(BTD):c.1311G>A (p.Val437=)
|
rs753880468
|
0.00002
|
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
|
NM_001370658.1(BTD):c.183G>A (p.Glu61=)
|
rs753816877
|
0.00002
|
|
NM_001370658.1(BTD):c.288T>C (p.His96=)
|
rs1261536776
|
0.00002
|
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
|
NM_001370658.1(BTD):c.534C>T (p.Val178=)
|
rs757159632
|
0.00002
|
|
NM_001370658.1(BTD):c.723C>T (p.Tyr241=)
|
rs372687866
|
0.00002
|
|
NM_001370658.1(BTD):c.741G>A (p.Val247=)
|
rs552436982
|
0.00002
|
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
|
NM_001370658.1(BTD):c.852A>G (p.Pro284=)
|
rs778024234
|
0.00002
|
|
NM_001370658.1(BTD):c.972C>T (p.Leu324=)
|
rs117806438
|
0.00002
|
|
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val)
|
rs745900584
|
0.00002
|
|
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu)
|
rs745481903
|
0.00002
|
|
NM_001609.4(ACADSB):c.763C>T (p.Leu255Phe)
|
rs137852649
|
0.00002
|
|
NM_001609.4(ACADSB):c.915G>A (p.Ala305=)
|
rs371907721
|
0.00002
|
|
NM_001698.3(AUH):c.198C>T (p.Gly66=)
|
rs1268067238
|
0.00002
|
|
NM_001698.3(AUH):c.263-11C>T
|
rs759369259
|
0.00002
|
|
NM_001698.3(AUH):c.505+1G>C
|
rs773652620
|
0.00002
|
|
NM_001698.3(AUH):c.655+15C>T
|
rs781269099
|
0.00002
|
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
|
NM_001698.3(AUH):c.676C>T (p.Arg226Cys)
|
rs148157596
|
0.00002
|
|
NM_001698.3(AUH):c.719C>T (p.Ala240Val)
|
rs769894315
|
0.00002
|
|
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)
|
rs1269002301
|
0.00002
|
|
NM_001698.3(AUH):c.850G>A (p.Val284Ile)
|
rs748245565
|
0.00002
|
|
NM_001698.3(AUH):c.943-6T>C
|
rs778134028
|
0.00002
|
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
|
NM_002225.5(IVD):c.1138+9T>G
|
rs749171166
|
0.00002
|
|
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
|
rs752374036
|
0.00002
|
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
|
NM_002225.5(IVD):c.219G>A (p.Glu73=)
|
rs748950739
|
0.00002
|
|
NM_002225.5(IVD):c.22C>T (p.Leu8=)
|
rs773816252
|
0.00002
|
|
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
|
rs780854004
|
0.00002
|
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
|
NM_002225.5(IVD):c.483C>T (p.Ala161=)
|
rs751760095
|
0.00002
|
|
NM_002225.5(IVD):c.534C>A (p.Leu178=)
|
rs775318094
|
0.00002
|
|
NM_002225.5(IVD):c.540G>A (p.Ala180=)
|
rs775944806
|
0.00002
|
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
|
NM_002225.5(IVD):c.897G>A (p.Leu299=)
|
rs751049911
|
0.00002
|
|
NM_002225.5(IVD):c.9T>C (p.Thr3=)
|
rs370886046
|
0.00002
|
|
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)
|
rs771010169
|
0.00002
|
|
NM_005050.4(ABCD4):c.1401C>T (p.Asp467=)
|
rs757799492
|
0.00002
|
|
NM_005050.4(ABCD4):c.1559+20G>A
|
rs572419384
|
0.00002
|
|
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=)
|
rs141766346
|
0.00002
|
|
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=)
|
rs761917106
|
0.00002
|
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
|
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
|
rs368694663
|
0.00002
|
|
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
|
rs764251926
|
0.00002
|
|
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)
|
rs398124206
|
0.00002
|
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
|
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
|
rs782472950
|
0.00002
|
|
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)
|
rs782517377
|
0.00002
|
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
|
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)
|
rs371411952
|
0.00002
|
|
NM_005334.3(HCFC1):c.2856+15G>A
|
rs1286532435
|
0.00002
|
|
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
|
rs1436495630
|
0.00002
|
|
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)
|
rs1557114580
|
0.00002
|
|
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
|
rs782014460
|
0.00002
|
|
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=)
|
rs782332238
|
0.00002
|
|
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)
|
rs868914963
|
0.00002
|
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
|
NM_005334.3(HCFC1):c.3975C>T (p.His1325=)
|
rs373289538
|
0.00002
|
|
NM_005334.3(HCFC1):c.4275C>T (p.His1425=)
|
rs782707963
|
0.00002
|
|
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met)
|
rs781961897
|
0.00002
|
|
NM_005334.3(HCFC1):c.4497+4A>G
|
rs782206577
|
0.00002
|
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
|
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)
|
rs781788935
|
0.00002
|
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
|
NM_005334.3(HCFC1):c.504-5G>A
|
rs1362015008
|
0.00002
|
|
NM_005334.3(HCFC1):c.5261-17A>G
|
rs782143370
|
0.00002
|
|
NM_005334.3(HCFC1):c.5517+16T>A
|
rs782354980
|
0.00002
|
|
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)
|
rs782063013
|
0.00002
|
|
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)
|
rs781929046
|
0.00002
|
|
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)
|
rs782385961
|
0.00002
|
|
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
|
rs778434126
|
0.00002
|
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
|
NM_014362.4(HIBCH):c.438+11T>G
|
rs1414998551
|
0.00002
|
|
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn)
|
rs150537378
|
0.00002
|
|
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
|
rs779459988
|
0.00002
|
|
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg)
|
rs371033488
|
0.00002
|
|
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)
|
rs1433228446
|
0.00002
|
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
|
NM_014384.3(ACAD8):c.841+6A>C
|
rs199738913
|
0.00002
|
|
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)
|
rs121908422
|
0.00002
|
|
NM_015506.3(MMACHC):c.105G>A (p.Leu35=)
|
rs1415635839
|
0.00002
|
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
|
NM_015506.3(MMACHC):c.354G>A (p.Gln118=)
|
rs765769901
|
0.00002
|
|
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
|
rs775173474
|
0.00002
|
|
NM_015506.3(MMACHC):c.429+14T>G
|
rs371226986
|
0.00002
|
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
|
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
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.765C>T (p.Pro255=)
|
rs772078967
|
0.00002
|
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
|
NM_015506.3(MMACHC):c.810C>T (p.Leu270=)
|
rs778330842
|
0.00002
|
|
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)
|
rs777544556
|
0.00002
|
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
|
NM_015702.3(MMADHC):c.537A>G (p.Thr179=)
|
rs377571291
|
0.00002
|
|
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
|
rs986210972
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1188+7A>T
|
rs375681915
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)
|
rs1340799992
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1418-16T>C
|
rs753105951
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=)
|
rs944285630
|
0.00002
|
|
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
|
rs775365046
|
0.00002
|
|
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=)
|
rs368494826
|
0.00002
|
|
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser)
|
rs376076271
|
0.00002
|
|
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu)
|
rs771226867
|
0.00002
|
|
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
|
rs747354714
|
0.00002
|
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
|
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=)
|
rs762544072
|
0.00002
|
|
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu)
|
rs371219844
|
0.00002
|
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
|
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
|
rs756076414
|
0.00002
|
|
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr)
|
rs796051987
|
0.00002
|
|
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
|
rs150835353
|
0.00002
|
|
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
|
rs761480737
|
0.00002
|
|
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=)
|
rs147087448
|
0.00002
|
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
|
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr)
|
rs778145370
|
0.00002
|
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
|
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
|
rs761110034
|
0.00002
|
|
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)
|
rs202197951
|
0.00002
|
|
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
|
rs375326791
|
0.00002
|
|
NM_020166.5(MCCC1):c.603T>C (p.Pro201=)
|
rs765869735
|
0.00002
|
|
NM_020166.5(MCCC1):c.618C>T (p.Ala206=)
|
rs760366008
|
0.00002
|
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
|
NM_020166.5(MCCC1):c.639+9G>T
|
rs780170482
|
0.00002
|
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
|
NM_020166.5(MCCC1):c.761+14A>G
|
rs372797109
|
0.00002
|
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
|
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
|
rs753650692
|
0.00002
|
|
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=)
|
rs766440020
|
0.00002
|
|
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
|
rs752139859
|
0.00002
|
|
NM_022132.5(MCCC2):c.1216+8A>G
|
rs532313245
|
0.00002
|
|
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=)
|
rs754213093
|
0.00002
|
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
|
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys)
|
rs145475202
|
0.00002
|
|
NM_022132.5(MCCC2):c.1373+18C>T
|
rs200716557
|
0.00002
|
|
NM_022132.5(MCCC2):c.1488+10del
|
rs767400522
|
0.00002
|
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
0.00002
|
|
NM_022132.5(MCCC2):c.1574+1G>A
|
rs730880265
|
0.00002
|
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
|
NM_022132.5(MCCC2):c.78C>T (p.Asp26=)
|
rs774475879
|
0.00002
|
|
NM_022132.5(MCCC2):c.903+9G>A
|
rs747069963
|
0.00002
|
|
NM_025136.4(OPA3):c.142+16A>G
|
rs1969904812
|
0.00002
|
|
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
|
rs763315476
|
0.00002
|
|
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)
|
rs186796646
|
0.00002
|
|
NM_025136.4(OPA3):c.333G>A (p.Lys111=)
|
rs761583193
|
0.00002
|
|
NM_025136.4(OPA3):c.336G>A (p.Glu112=)
|
rs146349367
|
0.00002
|
|
NM_025136.4(OPA3):c.351T>C (p.Ala117=)
|
rs760489108
|
0.00002
|
|
NM_025136.4(OPA3):c.519A>G (p.Ala173=)
|
rs1200579847
|
0.00002
|
|
NM_025136.4(OPA3):c.528G>A (p.Ala176=)
|
rs752240099
|
0.00002
|
|
NM_025136.4(OPA3):c.540G>A (p.Ter180=)
|
rs774281852
|
0.00002
|
|
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
|
rs367903368
|
0.00002
|
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
|
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His)
|
rs1331741437
|
0.00002
|
|
NM_032861.4(SERAC1):c.1684+7C>A
|
rs765831183
|
0.00002
|
|
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile)
|
rs780572089
|
0.00002
|
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
|
NM_032861.4(SERAC1):c.266-11A>G
|
rs574469098
|
0.00002
|
|
NM_032861.4(SERAC1):c.487+5T>C
|
rs748641688
|
0.00002
|
|
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
|
rs1449129513
|
0.00002
|
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
|
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser)
|
rs193015172
|
0.00002
|
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
|
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
|
rs780166156
|
0.00002
|
|
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
|
rs1461731163
|
0.00002
|
|
NM_052845.4(MMAB):c.644+8C>T
|
rs770159367
|
0.00002
|
|
NM_052845.4(MMAB):c.645-6C>T
|
rs766039550
|
0.00002
|
|
NM_145261.4(DNAJC19):c.129+6A>G
|
rs192629594
|
0.00002
|
|
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val)
|
rs372756221
|
0.00002
|
|
NM_145261.4(DNAJC19):c.210-17T>C
|
rs750700018
|
0.00002
|
|
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His)
|
rs756192515
|
0.00002
|
|
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg)
|
rs776130966
|
0.00002
|
|
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=)
|
rs367996239
|
0.00002
|
|
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)
|
rs552250080
|
0.00002
|
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
|
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)
|
rs1209585004
|
0.00002
|
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
|
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
|
rs772082690
|
0.00002
|
|
NM_172250.3(MMAA):c.585C>T (p.Thr195=)
|
rs571797666
|
0.00002
|
|
NM_172250.3(MMAA):c.970-6C>T
|
rs774402841
|
0.00002
|
|
NC_000019.10:g.45529065G>A
|
rs1162879805
|
0.00001
|
|
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
|
rs1453736760
|
0.00001
|
|
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
|
rs756978324
|
0.00001
|
|
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
|
rs778512952
|
0.00001
|
|
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)
|
rs120074143
|
0.00001
|
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
|
NM_000019.4(ACAT1):c.1163+1G>A
|
rs1423476705
|
0.00001
|
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
|
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn)
|
rs746332363
|
0.00001
|
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
|
NM_000019.4(ACAT1):c.120+1G>C
|
rs779908220
|
0.00001
|
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
|
NM_000019.4(ACAT1):c.1263C>T (p.Ala421=)
|
rs1382129086
|
0.00001
|
|
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
|
rs1430318016
|
0.00001
|
|
NM_000019.4(ACAT1):c.129C>T (p.Val43=)
|
rs773917391
|
0.00001
|
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
0.00001
|
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
|
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)
|
rs1305448140
|
0.00001
|
|
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met)
|
rs1465674363
|
0.00001
|
|
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
|
rs1380608828
|
0.00001
|
|
NM_000019.4(ACAT1):c.30del (p.Ser10fs)
|
rs1565281236
|
0.00001
|
|
NM_000019.4(ACAT1):c.348T>C (p.Ser116=)
|
rs372836412
|
0.00001
|
|
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
|
rs762367702
|
0.00001
|
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
|
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
|
rs1591363760
|
0.00001
|
|
NM_000019.4(ACAT1):c.39C>T (p.Arg13=)
|
rs908924449
|
0.00001
|
|
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu)
|
rs750876321
|
0.00001
|
|
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr)
|
rs758930842
|
0.00001
|
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
|
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
|
rs1447450319
|
0.00001
|
|
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys)
|
rs757688736
|
0.00001
|
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
|
NM_000019.4(ACAT1):c.477T>G (p.Val159=)
|
rs1200544048
|
0.00001
|
|
NM_000019.4(ACAT1):c.48C>T (p.Ser16=)
|
rs1196108614
|
0.00001
|
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
|
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
|
rs915506786
|
0.00001
|
|
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
|
rs771160678
|
0.00001
|
|
NM_000019.4(ACAT1):c.699T>C (p.Asn233=)
|
rs1409696819
|
0.00001
|
|
NM_000019.4(ACAT1):c.72+13C>T
|
rs780504384
|
0.00001
|
|
NM_000019.4(ACAT1):c.749del (p.Val250fs)
|
rs1565293957
|
0.00001
|
|
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
|
rs983216159
|
0.00001
|
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
|
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
|
rs747272327
|
0.00001
|
|
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
|
rs201725995
|
0.00001
|
|
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)
|
rs1420321267
|
0.00001
|
|
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val)
|
rs747860630
|
0.00001
|
|
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser)
|
rs562043215
|
0.00001
|
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
|
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
|
rs780486838
|
0.00001
|
|
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala)
|
rs1184689716
|
0.00001
|
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.110-6C>G
|
rs782099193
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
|
rs782470471
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)
|
rs782223969
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.238+11C>G
|
rs1163786089
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.461-16G>C
|
rs782759146
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)
|
rs1603381303
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
|
rs782498534
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
|
rs781846964
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)
|
rs372610945
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)
|
rs782123597
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.700-5C>T
|
rs782731479
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)
|
rs1042313041
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
|
rs368990588
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=)
|
rs782273950
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
|
NM_000191.3(HMGCL):c.141A>G (p.Glu47=)
|
rs776280224
|
0.00001
|
|
NM_000191.3(HMGCL):c.144+1G>A
|
rs1638698732
|
0.00001
|
|
NM_000191.3(HMGCL):c.145-4A>G
|
rs963436984
|
0.00001
|
|
NM_000191.3(HMGCL):c.159T>A (p.Thr53=)
|
rs1638634324
|
0.00001
|
|
NM_000191.3(HMGCL):c.252+17A>G
|
rs773700977
|
0.00001
|
|
NM_000191.3(HMGCL):c.27G>T (p.Pro9=)
|
rs1337954372
|
0.00001
|
|
NM_000191.3(HMGCL):c.30G>A (p.Arg10=)
|
rs1284448239
|
0.00001
|
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
|
NM_000191.3(HMGCL):c.339C>T (p.Phe113=)
|
rs112352538
|
0.00001
|
|
NM_000191.3(HMGCL):c.345A>C (p.Ala115=)
|
rs761706911
|
0.00001
|
|
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val)
|
rs368145582
|
0.00001
|
|
NM_000191.3(HMGCL):c.348+7G>A
|
rs746088233
|
0.00001
|
|
NM_000191.3(HMGCL):c.349-10A>T
|
rs755304948
|
0.00001
|
|
NM_000191.3(HMGCL):c.390C>T (p.Ala130=)
|
rs141872588
|
0.00001
|
|
NM_000191.3(HMGCL):c.399C>T (p.Leu133=)
|
rs760474502
|
0.00001
|
|
NM_000191.3(HMGCL):c.441T>C (p.Phe147=)
|
rs777819749
|
0.00001
|
|
NM_000191.3(HMGCL):c.471G>A (p.Ala157=)
|
rs758118156
|
0.00001
|
|
NM_000191.3(HMGCL):c.477A>C (p.Ser159=)
|
rs1304272931
|
0.00001
|
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
|
NM_000191.3(HMGCL):c.498-14_498-13del
|
rs753940756
|
0.00001
|
|
NM_000191.3(HMGCL):c.498-7C>T
|
rs764007608
|
0.00001
|
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
|
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
|
rs759288306
|
0.00001
|
|
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)
|
rs747529727
|
0.00001
|
|
NM_000191.3(HMGCL):c.561+20C>T
|
rs781059597
|
0.00001
|
|
NM_000191.3(HMGCL):c.561+7G>A
|
rs773091131
|
0.00001
|
|
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
|
rs1303119110
|
0.00001
|
|
NM_000191.3(HMGCL):c.60+7G>A
|
rs368461149
|
0.00001
|
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
|
NM_000191.3(HMGCL):c.687C>T (p.Ala229=)
|
rs1638447338
|
0.00001
|
|
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
|
rs990313450
|
0.00001
|
|
NM_000191.3(HMGCL):c.711C>T (p.Thr237=)
|
rs754976763
|
0.00001
|
|
NM_000191.3(HMGCL):c.735C>A (p.Thr245=)
|
rs202074025
|
0.00001
|
|
NM_000191.3(HMGCL):c.750+8A>G
|
rs771868826
|
0.00001
|
|
NM_000191.3(HMGCL):c.762T>C (p.Ser254=)
|
rs983682054
|
0.00001
|
|
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
|
rs764238653
|
0.00001
|
|
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)
|
rs750347526
|
0.00001
|
|
NM_000191.3(HMGCL):c.816A>T (p.Ala272=)
|
rs141340718
|
0.00001
|
|
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)
|
rs1391067821
|
0.00001
|
|
NM_000191.3(HMGCL):c.825C>T (p.Asn275=)
|
rs1287973337
|
0.00001
|
|
NM_000191.3(HMGCL):c.84T>C (p.Thr28=)
|
rs752969194
|
0.00001
|
|
NM_000191.3(HMGCL):c.858G>A (p.Glu286=)
|
rs376715568
|
0.00001
|
|
NM_000191.3(HMGCL):c.876+20G>A
|
rs749917434
|
0.00001
|
|
NM_000191.3(HMGCL):c.90A>G (p.Pro30=)
|
rs767787302
|
0.00001
|
|
NM_000191.3(HMGCL):c.921T>C (p.Cys307=)
|
rs777324642
|
0.00001
|
|
NM_000191.3(HMGCL):c.977G>A (p.Ter326=)
|
rs1303767209
|
0.00001
|
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
|
NM_000282.4(PCCA):c.105+16G>A
|
rs2046038909
|
0.00001
|
|
NM_000282.4(PCCA):c.106-10T>C
|
rs770940740
|
0.00001
|
|
NM_000282.4(PCCA):c.1065+10A>G
|
rs1428223017
|
0.00001
|
|
NM_000282.4(PCCA):c.1065+12T>A
|
rs1013549378
|
0.00001
|
|
NM_000282.4(PCCA):c.1065+15T>C
|
rs762540382
|
0.00001
|
|
NM_000282.4(PCCA):c.1066-13C>T
|
rs372186963
|
0.00001
|
|
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
|
rs761295534
|
0.00001
|
|
NM_000282.4(PCCA):c.1089C>T (p.Cys363=)
|
rs766934571
|
0.00001
|
|
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg)
|
rs752995083
|
0.00001
|
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
|
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys)
|
rs758588772
|
0.00001
|
|
NM_000282.4(PCCA):c.1124G>A (p.Arg375His)
|
rs778042583
|
0.00001
|
|
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
|
rs1165198558
|
0.00001
|
|
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)
|
rs1234167788
|
0.00001
|
|
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)
|
rs1301904623
|
0.00001
|
|
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys)
|
rs981962098
|
0.00001
|
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
|
NM_000282.4(PCCA):c.1269G>A (p.Pro423=)
|
rs778642206
|
0.00001
|
|
NM_000282.4(PCCA):c.1284+17T>G
|
rs531058073
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-10T>C
|
rs1186262441
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-15C>T
|
rs779554504
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-20T>C
|
rs1227568974
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-5C>T
|
rs773331326
|
0.00001
|
|
NM_000282.4(PCCA):c.1291G>A (p.Val431Met)
|
rs1464775522
|
0.00001
|
|
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
|
rs759257021
|
0.00001
|
|
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
|
rs934310912
|
0.00001
|
|
NM_000282.4(PCCA):c.1353+16C>T
|
rs573543059
|
0.00001
|
|
NM_000282.4(PCCA):c.1353+18A>G
|
rs369105635
|
0.00001
|
|
NM_000282.4(PCCA):c.1354-10T>C
|
rs750041912
|
0.00001
|
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
|
NM_000282.4(PCCA):c.1437A>G (p.Thr479=)
|
rs1224037636
|
0.00001
|
|
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
|
rs1349455848
|
0.00001
|
|
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
|
rs1214787896
|
0.00001
|
|
NM_000282.4(PCCA):c.1540+15A>C
|
rs372830595
|
0.00001
|
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
|
NM_000282.4(PCCA):c.1540+5G>C
|
rs371430625
|
0.00001
|
|
NM_000282.4(PCCA):c.1541-15A>G
|
rs748759552
|
0.00001
|
|
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp)
|
rs755553674
|
0.00001
|
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
|
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly)
|
rs2071094349
|
0.00001
|
|
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile)
|
rs759831592
|
0.00001
|
|
NM_000282.4(PCCA):c.1659A>G (p.Lys553=)
|
rs764395477
|
0.00001
|
|
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
|
rs755890592
|
0.00001
|
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
|
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr)
|
rs2079091190
|
0.00001
|
|
NM_000282.4(PCCA):c.1764G>A (p.Ser588=)
|
rs772158996
|
0.00001
|
|
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
|
rs778065877
|
0.00001
|
|
NM_000282.4(PCCA):c.1785G>A (p.Thr595=)
|
rs766312551
|
0.00001
|
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
|
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
|
rs761681712
|
0.00001
|
|
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser)
|
rs752459931
|
0.00001
|
|
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser)
|
rs1427313509
|
0.00001
|
|
NM_000282.4(PCCA):c.180A>G (p.Glu60=)
|
rs1003935202
|
0.00001
|
|
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
|
rs763647197
|
0.00001
|
|
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
|
rs1008553303
|
0.00001
|
|
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser)
|
rs749767976
|
0.00001
|
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
|
NM_000282.4(PCCA):c.184-5T>C
|
rs780230606
|
0.00001
|
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
|
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val)
|
rs1163083290
|
0.00001
|
|
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
|
rs1400179119
|
0.00001
|
|
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
|
rs796052018
|
0.00001
|
|
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
|
NM_000282.4(PCCA):c.1899+7A>G
|
rs950344042
|
0.00001
|
|
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser)
|
rs149772960
|
0.00001
|
|
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp)
|
rs891469566
|
0.00001
|
|
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn)
|
rs764651081
|
0.00001
|
|
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
|
rs1357780167
|
0.00001
|
|
NM_000282.4(PCCA):c.2001C>T (p.Pro667=)
|
rs778845861
|
0.00001
|
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
|
NM_000282.4(PCCA):c.2010G>A (p.Val670=)
|
rs1343608733
|
0.00001
|
|
NM_000282.4(PCCA):c.202G>A (p.Val68Ile)
|
rs768750176
|
0.00001
|
|
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr)
|
rs201570489
|
0.00001
|
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
|
NM_000282.4(PCCA):c.2118+10T>C
|
rs1318351775
|
0.00001
|
|
NM_000282.4(PCCA):c.2119-5T>G
|
rs752895575
|
0.00001
|
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00001
|
|
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
|
rs781085655
|
0.00001
|
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
|
NM_000282.4(PCCA):c.231+8G>A
|
rs199996461
|
0.00001
|
|
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg)
|
rs1203679401
|
0.00001
|
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
|
NM_000282.4(PCCA):c.30G>T (p.Pro10=)
|
rs1206173421
|
0.00001
|
|
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr)
|
rs1482878054
|
0.00001
|
|
NM_000282.4(PCCA):c.405G>A (p.Arg135=)
|
rs996873957
|
0.00001
|
|
NM_000282.4(PCCA):c.414+7C>G
|
rs1051098122
|
0.00001
|
|
NM_000282.4(PCCA):c.415-2A>C
|
rs746286209
|
0.00001
|
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
|
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)
|
rs774457925
|
0.00001
|
|
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
|
NM_000282.4(PCCA):c.453A>G (p.Glu151=)
|
rs897110640
|
0.00001
|
|
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser)
|
rs772068496
|
0.00001
|
|
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser)
|
rs773032396
|
0.00001
|
|
NM_000282.4(PCCA):c.522G>A (p.Met174Ile)
|
rs780406346
|
0.00001
|
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
|
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
|
rs747026505
|
0.00001
|
|
NM_000282.4(PCCA):c.601-13C>T
|
rs1367838556
|
0.00001
|
|
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu)
|
rs1367928921
|
0.00001
|
|
NM_000282.4(PCCA):c.637+18C>A
|
rs758676556
|
0.00001
|
|
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)
|
rs749118295
|
0.00001
|
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
|
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro)
|
rs1566436392
|
0.00001
|
|
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly)
|
rs760244758
|
0.00001
|
|
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys)
|
rs770371734
|
0.00001
|
|
NM_000282.4(PCCA):c.717-8T>C
|
rs1367148068
|
0.00001
|
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
|
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu)
|
rs769286299
|
0.00001
|
|
NM_000282.4(PCCA):c.819+19C>G
|
rs1566819775
|
0.00001
|
|
NM_000282.4(PCCA):c.819+20T>C
|
rs759539188
|
0.00001
|
|
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
|
rs1357373616
|
0.00001
|
|
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
|
rs778427348
|
0.00001
|
|
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
0.00001
|
|
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
|
rs771222501
|
0.00001
|
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
|
NM_000282.4(PCCA):c.914+3A>G
|
rs749376990
|
0.00001
|
|
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser)
|
rs749617899
|
0.00001
|
|
NM_000282.4(PCCA):c.987T>C (p.Tyr329=)
|
rs778986379
|
0.00001
|
|
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
|
rs769437282
|
0.00001
|
|
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr)
|
rs757258397
|
0.00001
|
|
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser)
|
rs747309318
|
0.00001
|
|
NM_000532.5(PCCB):c.1091-14C>A
|
rs1053805085
|
0.00001
|
|
NM_000532.5(PCCB):c.1091-6T>C
|
rs778146041
|
0.00001
|
|
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
|
rs779828803
|
0.00001
|
|
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
|
rs768328410
|
0.00001
|
|
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
|
rs1025062139
|
0.00001
|
|
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu)
|
rs1277882976
|
0.00001
|
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
|
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr)
|
rs182412270
|
0.00001
|
|
NM_000532.5(PCCB):c.1173T>C (p.Phe391=)
|
rs751750136
|
0.00001
|
|
NM_000532.5(PCCB):c.1198+19G>A
|
rs923951408
|
0.00001
|
|
NM_000532.5(PCCB):c.1199-4C>T
|
rs1361484856
|
0.00001
|
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
|
NM_000532.5(PCCB):c.1224C>T (p.Ile408=)
|
rs773701247
|
0.00001
|
|
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
|
rs781546348
|
0.00001
|
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
|
NM_000532.5(PCCB):c.128G>A (p.Arg43His)
|
rs1941481863
|
0.00001
|
|
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
|
rs774942448
|
0.00001
|
|
NM_000532.5(PCCB):c.1300-11A>G
|
rs200406126
|
0.00001
|
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
|
NM_000532.5(PCCB):c.1302C>T (p.Ala434=)
|
rs755024380
|
0.00001
|
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
|
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp)
|
rs749210374
|
0.00001
|
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
|
NM_000532.5(PCCB):c.1344T>C (p.Cys448=)
|
rs1306702510
|
0.00001
|
|
NM_000532.5(PCCB):c.1368C>T (p.Pro456=)
|
rs776005238
|
0.00001
|
|
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
|
rs1301343613
|
0.00001
|
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
|
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
|
rs1354285306
|
0.00001
|
|
NM_000532.5(PCCB):c.1399-10C>T
|
rs774180307
|
0.00001
|
|
NM_000532.5(PCCB):c.1399-2_1399-1del
|
rs1317123493
|
0.00001
|
|
NM_000532.5(PCCB):c.139C>G (p.Leu47Val)
|
rs199935380
|
0.00001
|
|
NM_000532.5(PCCB):c.1401C>T (p.Gly467=)
|
rs142915585
|
0.00001
|
|
NM_000532.5(PCCB):c.142C>T (p.Leu48=)
|
rs376983709
|
0.00001
|
|
NM_000532.5(PCCB):c.1431G>A (p.Glu477=)
|
rs989893902
|
0.00001
|
|
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg)
|
rs1368586445
|
0.00001
|
|
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser)
|
rs752000929
|
0.00001
|
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
|
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
|
rs1935428949
|
0.00001
|
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
|
NM_000532.5(PCCB):c.1499-6C>T
|
rs769854818
|
0.00001
|
|
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser)
|
rs1483082276
|
0.00001
|
|
NM_000532.5(PCCB):c.1504G>A (p.Val502Met)
|
rs763024986
|
0.00001
|
|
NM_000532.5(PCCB):c.1521A>G (p.Gln507=)
|
rs774461715
|
0.00001
|
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
|
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
|
rs767287287
|
0.00001
|
|
NM_000532.5(PCCB):c.168C>T (p.Asp56=)
|
rs759008477
|
0.00001
|
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
0.00001
|
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
|
NM_000532.5(PCCB):c.183+12_183+31dup
|
rs745694339
|
0.00001
|
|
NM_000532.5(PCCB):c.183+7C>G
|
rs1039491317
|
0.00001
|
|
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
|
rs1402404407
|
0.00001
|
|
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
|
rs768256081
|
0.00001
|
|
NM_000532.5(PCCB):c.303+13A>G
|
rs533887723
|
0.00001
|
|
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys)
|
rs1248879007
|
0.00001
|
|
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)
|
rs757860152
|
0.00001
|
|
NM_000532.5(PCCB):c.321G>C (p.Val107=)
|
rs201915067
|
0.00001
|
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
|
NM_000532.5(PCCB):c.348A>G (p.Gly116=)
|
rs1057522223
|
0.00001
|
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
|
NM_000532.5(PCCB):c.373-13A>G
|
rs1559997795
|
0.00001
|
|
NM_000532.5(PCCB):c.373-7T>G
|
rs995479007
|
0.00001
|
|
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
|
rs1941477030
|
0.00001
|
|
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)
|
rs398123464
|
0.00001
|
|
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
|
rs781142631
|
0.00001
|
|
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
|
rs1468203736
|
0.00001
|
|
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
|
rs780842004
|
0.00001
|
|
NM_000532.5(PCCB):c.483T>G (p.Ser161=)
|
rs751200837
|
0.00001
|
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
|
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
|
rs1334504053
|
0.00001
|
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
|
NM_000532.5(PCCB):c.544-4G>A
|
rs1390317726
|
0.00001
|
|
NM_000532.5(PCCB):c.54G>A (p.Ala18=)
|
rs1343618692
|
0.00001
|
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
|
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala)
|
rs1237531952
|
0.00001
|
|
NM_000532.5(PCCB):c.583C>G (p.Leu195Val)
|
rs747267484
|
0.00001
|
|
NM_000532.5(PCCB):c.597A>G (p.Pro199=)
|
rs773799305
|
0.00001
|
|
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
|
rs1157323383
|
0.00001
|
|
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
|
rs1269554950
|
0.00001
|
|
NM_000532.5(PCCB):c.630A>G (p.Leu210=)
|
rs1269554950
|
0.00001
|
|
NM_000532.5(PCCB):c.63C>G (p.Leu21=)
|
rs1941478618
|
0.00001
|
|
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
|
rs1250882565
|
0.00001
|
|
NM_000532.5(PCCB):c.646A>G (p.Met216Val)
|
rs747252352
|
0.00001
|
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
|
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
|
rs376645261
|
0.00001
|
|
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)
|
rs772483250
|
0.00001
|
|
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile)
|
rs762986402
|
0.00001
|
|
NM_000532.5(PCCB):c.723G>A (p.Gln241=)
|
rs751695055
|
0.00001
|
|
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
|
rs752940167
|
0.00001
|
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
|
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
|
NM_000532.5(PCCB):c.741C>T (p.Ala247=)
|
rs191115697
|
0.00001
|
|
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg)
|
rs1365706286
|
0.00001
|
|
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
|
rs779581071
|
0.00001
|
|
NM_000532.5(PCCB):c.747C>T (p.Thr249=)
|
rs746448544
|
0.00001
|
|
NM_000532.5(PCCB):c.758T>C (p.Met253Thr)
|
rs747881252
|
0.00001
|
|
NM_000532.5(PCCB):c.75C>T (p.Val25=)
|
rs761030422
|
0.00001
|
|
NM_000532.5(PCCB):c.787A>G (p.Asn263Asp)
|
rs529945350
|
0.00001
|
|
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser)
|
rs749071200
|
0.00001
|
|
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
|
rs759508806
|
0.00001
|
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
|
NM_000532.5(PCCB):c.825dup (p.Asn276fs)
|
rs748393514
|
0.00001
|
|
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe)
|
rs765843410
|
0.00001
|
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
|
NM_000532.5(PCCB):c.884+14C>T
|
rs372020160
|
0.00001
|
|
NM_000532.5(PCCB):c.884+15G>A
|
rs374909979
|
0.00001
|
|
NM_000532.5(PCCB):c.885-7C>T
|
rs1427637783
|
0.00001
|
|
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
|
rs753285409
|
0.00001
|
|
NM_000532.5(PCCB):c.907G>C (p.Asp303His)
|
rs943266027
|
0.00001
|
|
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
|
rs375740382
|
0.00001
|
|
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu)
|
rs1370289032
|
0.00001
|
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
0.00001
|
|
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
|
rs1456890228
|
0.00001
|
|
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser)
|
rs558836100
|
0.00001
|
|
NM_000532.5(PCCB):c.966+20G>A
|
rs778065472
|
0.00001
|
|
NM_000532.5(PCCB):c.966+9C>T
|
rs1325021223
|
0.00001
|
|
NM_000532.5(PCCB):c.966T>C (p.Ser322=)
|
rs1269805994
|
0.00001
|
|
NM_000532.5(PCCB):c.967-3C>T
|
rs1186569803
|
0.00001
|
|
NM_000532.5(PCCB):c.975T>C (p.Asp325=)
|
rs746146640
|
0.00001
|
|
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
|
rs1419967211
|
0.00001
|
|
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys)
|
rs377660729
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)
|
rs1358680743
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=)
|
rs757799912
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)
|
rs747906365
|
0.00001
|
|
NM_001243279.3(ACSF3):c.105C>T (p.Ala35=)
|
rs779450250
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
|
rs1184733927
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=)
|
rs148716626
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=)
|
rs967555706
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=)
|
rs765752531
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)
|
rs750959933
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)
|
rs1373279774
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
|
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu)
|
rs747598756
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1212C>T (p.His404=)
|
rs750140114
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=)
|
rs766100388
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1239+9C>G
|
rs376238513
|
0.00001
|
|
NM_001243279.3(ACSF3):c.12T>C (p.His4=)
|
rs1210564027
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)
|
rs766764090
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
|
rs1243213118
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
|
rs776995095
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)
|
rs554194567
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)
|
rs1321315792
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1366+8C>T
|
rs773327286
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=)
|
rs761654873
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)
|
rs748382994
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)
|
rs1272786593
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1501+10C>T
|
rs375729407
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1502-10C>T
|
rs573043890
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1502-2A>G
|
rs1188774860
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1502-8A>G
|
rs760700508
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)
|
rs387907118
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1613+1G>A
|
rs770400253
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
|
rs149803422
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)
|
rs757338614
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=)
|
rs1025781878
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1722C>T (p.His574=)
|
rs757130082
|
0.00001
|
|
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)
|
rs780402535
|
0.00001
|
|
NM_001243279.3(ACSF3):c.189C>T (p.His63=)
|
rs562260243
|
0.00001
|
|
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)
|
rs1259149379
|
0.00001
|
|
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)
|
rs750707295
|
0.00001
|
|
NM_001243279.3(ACSF3):c.267C>T (p.Val89=)
|
rs746883692
|
0.00001
|
|
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)
|
rs760759040
|
0.00001
|
|
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=)
|
rs763021932
|
0.00001
|
|
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=)
|
rs182147718
|
0.00001
|
|
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)
|
rs1441479986
|
0.00001
|
|
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)
|
rs541662926
|
0.00001
|
|
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)
|
rs905316715
|
0.00001
|
|
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)
|
rs1313088429
|
0.00001
|
|
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=)
|
rs775755554
|
0.00001
|
|
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)
|
rs774006659
|
0.00001
|
|
NM_001243279.3(ACSF3):c.465C>T (p.Leu155=)
|
rs1377484799
|
0.00001
|
|
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=)
|
rs775166866
|
0.00001
|
|
NM_001243279.3(ACSF3):c.555C>T (p.Val185=)
|
rs1260446910
|
0.00001
|
|
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=)
|
rs373441358
|
0.00001
|
|
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)
|
rs761573352
|
0.00001
|
|
NM_001243279.3(ACSF3):c.648C>T (p.His216=)
|
rs377553361
|
0.00001
|
|
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)
|
rs1374928980
|
0.00001
|
|
NM_001243279.3(ACSF3):c.666+1G>A
|
rs1336382616
|
0.00001
|
|
NM_001243279.3(ACSF3):c.666+20G>A
|
rs557738566
|
0.00001
|
|
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)
|
rs1336029211
|
0.00001
|
|
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=)
|
rs766852572
|
0.00001
|
|
NM_001243279.3(ACSF3):c.738C>T (p.His246=)
|
rs112722289
|
0.00001
|
|
NM_001243279.3(ACSF3):c.741C>A (p.Val247=)
|
rs773357766
|
0.00001
|
|
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=)
|
rs764919377
|
0.00001
|
|
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
|
rs1975498120
|
0.00001
|
|
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)
|
rs1321795303
|
0.00001
|
|
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)
|
rs749538361
|
0.00001
|
|
NM_001243279.3(ACSF3):c.823-5C>T
|
rs192714121
|
0.00001
|
|
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
|
rs759338401
|
0.00001
|
|
NM_001243279.3(ACSF3):c.866del (p.Val289fs)
|
rs758740850
|
0.00001
|
|
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)
|
rs942841837
|
0.00001
|
|
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)
|
rs1165098721
|
0.00001
|
|
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys)
|
rs765777645
|
0.00001
|
|
NM_001258392.3(CLPB):c.1067-4C>A
|
rs1311832888
|
0.00001
|
|
NM_001258392.3(CLPB):c.1123-14T>C
|
rs761493633
|
0.00001
|
|
NM_001258392.3(CLPB):c.1123-3C>T
|
rs764474532
|
0.00001
|
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
|
NM_001258392.3(CLPB):c.1167+6T>C
|
rs748976093
|
0.00001
|
|
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=)
|
rs1363666590
|
0.00001
|
|
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=)
|
rs536717344
|
0.00001
|
|
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala)
|
rs1258428897
|
0.00001
|
|
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
|
rs536485763
|
0.00001
|
|
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=)
|
rs539751194
|
0.00001
|
|
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
|
rs770073084
|
0.00001
|
|
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
|
rs776452795
|
0.00001
|
|
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
|
rs372344202
|
0.00001
|
|
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
|
rs1315933008
|
0.00001
|
|
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=)
|
rs747632383
|
0.00001
|
|
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
|
rs778269139
|
0.00001
|
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
|
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
|
rs750997439
|
0.00001
|
|
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
|
rs752870447
|
0.00001
|
|
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
|
rs773040549
|
0.00001
|
|
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)
|
rs568455218
|
0.00001
|
|
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys)
|
rs376835047
|
0.00001
|
|
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr)
|
rs918777173
|
0.00001
|
|
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
|
rs571871217
|
0.00001
|
|
NM_001258392.3(CLPB):c.1542G>A (p.Val514=)
|
rs935570035
|
0.00001
|
|
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=)
|
rs752634197
|
0.00001
|
|
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
|
rs776356646
|
0.00001
|
|
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=)
|
rs200970392
|
0.00001
|
|
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu)
|
rs1430716011
|
0.00001
|
|
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
|
rs780169796
|
0.00001
|
|
NM_001258392.3(CLPB):c.1681-14C>T
|
rs746122828
|
0.00001
|
|
NM_001258392.3(CLPB):c.1703C>T (p.Thr568Met)
|
rs755613972
|
0.00001
|
|
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys)
|
rs186989806
|
0.00001
|
|
NM_001258392.3(CLPB):c.1740C>T (p.Val580=)
|
rs759628306
|
0.00001
|
|
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn)
|
rs776835116
|
0.00001
|
|
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
|
rs747198658
|
0.00001
|
|
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr)
|
rs1949500581
|
0.00001
|
|
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
|
rs779976853
|
0.00001
|
|
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr)
|
rs1442380307
|
0.00001
|
|
NM_001258392.3(CLPB):c.1785+7A>G
|
rs745442561
|
0.00001
|
|
NM_001258392.3(CLPB):c.1785+8C>T
|
rs1446394124
|
0.00001
|
|
NM_001258392.3(CLPB):c.1786-5G>A
|
rs756715990
|
0.00001
|
|
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
|
rs1247332355
|
0.00001
|
|
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
|
rs201668123
|
0.00001
|
|
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
|
rs757217501
|
0.00001
|
|
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
|
rs1254521420
|
0.00001
|
|
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=)
|
rs894319387
|
0.00001
|
|
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
|
rs567785578
|
0.00001
|
|
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
|
rs1590947700
|
0.00001
|
|
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
|
rs751423546
|
0.00001
|
|
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
|
rs960976552
|
0.00001
|
|
NM_001258392.3(CLPB):c.261T>C (p.Thr87=)
|
rs1427118335
|
0.00001
|
|
NM_001258392.3(CLPB):c.269G>A (p.Arg90His)
|
rs762324677
|
0.00001
|
|
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
|
rs369149141
|
0.00001
|
|
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys)
|
rs747589481
|
0.00001
|
|
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
|
rs1191592329
|
0.00001
|
|
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly)
|
rs1565107812
|
0.00001
|
|
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu)
|
rs141495575
|
0.00001
|
|
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
|
rs750927442
|
0.00001
|
|
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
|
rs572605602
|
0.00001
|
|
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser)
|
rs1323542690
|
0.00001
|
|
NM_001258392.3(CLPB):c.456-3T>A
|
rs751918724
|
0.00001
|
|
NM_001258392.3(CLPB):c.531C>T (p.Asn177=)
|
rs771786059
|
0.00001
|
|
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter)
|
rs774185980
|
0.00001
|
|
NM_001258392.3(CLPB):c.57G>C (p.Arg19=)
|
rs112362953
|
0.00001
|
|
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
|
rs150558227
|
0.00001
|
|
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
|
rs767714428
|
0.00001
|
|
NM_001258392.3(CLPB):c.646+13T>C
|
rs370275901
|
0.00001
|
|
NM_001258392.3(CLPB):c.647-6C>T
|
rs1377454533
|
0.00001
|
|
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
|
rs754211386
|
0.00001
|
|
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
|
rs766759416
|
0.00001
|
|
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
|
rs761122843
|
0.00001
|
|
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
|
rs143460015
|
0.00001
|
|
NM_001258392.3(CLPB):c.775+13G>A
|
rs746972083
|
0.00001
|
|
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
|
rs543347319
|
0.00001
|
|
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
|
rs1950189871
|
0.00001
|
|
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
|
rs759743960
|
0.00001
|
|
NM_001258392.3(CLPB):c.873+12G>A
|
rs199805574
|
0.00001
|
|
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
|
rs747344641
|
0.00001
|
|
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
|
rs1199370784
|
0.00001
|
|
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
|
rs751427024
|
0.00001
|
|
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr)
|
rs759050719
|
0.00001
|
|
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=)
|
rs568871363
|
0.00001
|
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
|
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
|
rs773020648
|
0.00001
|
|
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
|
rs765979436
|
0.00001
|
|
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
|
rs1395979008
|
0.00001
|
|
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
|
rs1188065092
|
0.00001
|
|
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=)
|
rs776771975
|
0.00001
|
|
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
|
rs772203778
|
0.00001
|
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00001
|
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
|
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
|
rs760694310
|
0.00001
|
|
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
|
rs2066885260
|
0.00001
|
|
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=)
|
rs533602689
|
0.00001
|
|
NM_001352514.2(HLCS):c.1425T>C (p.Ala475=)
|
rs1034237557
|
0.00001
|
|
NM_001352514.2(HLCS):c.1437+7A>G
|
rs1240794985
|
0.00001
|
|
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
|
rs772808561
|
0.00001
|
|
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
|
rs201862206
|
0.00001
|
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
|
NM_001352514.2(HLCS):c.1863G>A (p.Val621=)
|
rs762642801
|
0.00001
|
|
NM_001352514.2(HLCS):c.1893-9C>G
|
rs761781683
|
0.00001
|
|
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
|
rs1369860703
|
0.00001
|
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
|
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
|
rs945618984
|
0.00001
|
|
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=)
|
rs556886743
|
0.00001
|
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
|
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=)
|
rs764487201
|
0.00001
|
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
|
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
|
rs367725468
|
0.00001
|
|
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs)
|
rs760372711
|
0.00001
|
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
|
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
|
rs759416272
|
0.00001
|
|
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
|
rs779439814
|
0.00001
|
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
|
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=)
|
rs199936080
|
0.00001
|
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
|
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=)
|
rs202028605
|
0.00001
|
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
|
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=)
|
rs372467001
|
0.00001
|
|
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
|
rs778232930
|
0.00001
|
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
|
NM_001352514.2(HLCS):c.498G>A (p.Val166=)
|
rs2066944593
|
0.00001
|
|
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
|
rs755797089
|
0.00001
|
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
|
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
|
rs574644351
|
0.00001
|
|
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
|
rs780666266
|
0.00001
|
|
NM_001352514.2(HLCS):c.585T>C (p.Ser195=)
|
rs1379810424
|
0.00001
|
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
|
NM_001352514.2(HLCS):c.621T>C (p.His207=)
|
rs1323740370
|
0.00001
|
|
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
|
rs768745299
|
0.00001
|
|
NM_001352514.2(HLCS):c.696T>C (p.Pro232=)
|
rs200877859
|
0.00001
|
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
|
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
|
rs764416032
|
0.00001
|
|
NM_001352514.2(HLCS):c.762C>T (p.His254=)
|
rs775946159
|
0.00001
|
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
|
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
|
rs747702795
|
0.00001
|
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
|
NM_001352514.2(HLCS):c.861G>A (p.Glu287=)
|
rs1410993144
|
0.00001
|
|
NM_001352514.2(HLCS):c.969C>T (p.Leu323=)
|
rs1458636068
|
0.00001
|
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
|
NM_001352514.2(HLCS):c.981C>T (p.His327=)
|
rs773664058
|
0.00001
|
|
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
|
rs745472061
|
0.00001
|
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
|
NM_001370658.1(BTD):c.-17+7A>C
|
rs1453269936
|
0.00001
|
|
NM_001370658.1(BTD):c.-22G>A
|
rs781354864
|
0.00001
|
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
|
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)
|
rs1379845261
|
0.00001
|
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
|
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)
|
rs775369290
|
0.00001
|
|
NM_001370658.1(BTD):c.1092C>T (p.Thr364=)
|
rs753278397
|
0.00001
|
|
NM_001370658.1(BTD):c.1101C>T (p.Asn367=)
|
rs756863026
|
0.00001
|
|
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)
|
rs147188293
|
0.00001
|
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
|
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)
|
rs397514406
|
0.00001
|
|
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)
|
rs777799585
|
0.00001
|
|
NM_001370658.1(BTD):c.1161T>C (p.Pro387=)
|
rs749528636
|
0.00001
|
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
|
NM_001370658.1(BTD):c.1200T>C (p.Asn400=)
|
rs2065658628
|
0.00001
|
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
|
NM_001370658.1(BTD):c.1236C>A (p.Thr412=)
|
rs1575030932
|
0.00001
|
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
|
NM_001370658.1(BTD):c.1377G>A (p.Thr459=)
|
rs535292517
|
0.00001
|
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
|
NM_001370658.1(BTD):c.1446A>G (p.Ser482=)
|
rs1323842252
|
0.00001
|
|
NM_001370658.1(BTD):c.1470C>T (p.Asp490=)
|
rs1301007653
|
0.00001
|
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
|
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)
|
rs397514431
|
0.00001
|
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
|
NM_001370658.1(BTD):c.249+15C>T
|
rs760435212
|
0.00001
|
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
0.00001
|
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
|
NM_001370658.1(BTD):c.255A>C (p.Val85=)
|
rs369304137
|
0.00001
|
|
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)
|
rs372416959
|
0.00001
|
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
|
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)
|
rs541012569
|
0.00001
|
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
|
NM_001370658.1(BTD):c.577del (p.His193fs)
|
rs780874850
|
0.00001
|
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
|
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)
|
rs767750851
|
0.00001
|
|
NM_001370658.1(BTD):c.600A>G (p.Ala200=)
|
rs757071809
|
0.00001
|
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
|
NM_001370658.1(BTD):c.669C>T (p.Phe223=)
|
rs774761127
|
0.00001
|
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
|
NM_001370658.1(BTD):c.729G>A (p.Val243=)
|
rs777470168
|
0.00001
|
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
|
NM_001370658.1(BTD):c.789G>A (p.Glu263=)
|
rs2065643507
|
0.00001
|
|
NM_001370658.1(BTD):c.843C>A (p.Val281=)
|
rs1344958210
|
0.00001
|
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
|
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)
|
rs1449860088
|
0.00001
|
|
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)
|
rs747059644
|
0.00001
|
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
|
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)
|
rs1465883743
|
0.00001
|
|
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
|
rs200548567
|
0.00001
|
|
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
|
rs748042148
|
0.00001
|
|
NM_001609.4(ACADSB):c.1154G>A (p.Cys385Tyr)
|
rs1370215763
|
0.00001
|
|
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val)
|
rs770827167
|
0.00001
|
|
NM_001609.4(ACADSB):c.1168G>A (p.Gly390Arg)
|
rs764095189
|
0.00001
|
|
NM_001609.4(ACADSB):c.1233G>A (p.Thr411=)
|
rs755167353
|
0.00001
|
|
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr)
|
rs748926593
|
0.00001
|
|
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
|
rs1164586012
|
0.00001
|
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
|
NM_001609.4(ACADSB):c.265A>G (p.Met89Val)
|
rs372537859
|
0.00001
|
|
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
|
NM_001609.4(ACADSB):c.426G>A (p.Gln142=)
|
rs748754507
|
0.00001
|
|
NM_001609.4(ACADSB):c.511-6A>G
|
rs773071242
|
0.00001
|
|
NM_001609.4(ACADSB):c.555A>G (p.Ser185=)
|
rs762414612
|
0.00001
|
|
NM_001609.4(ACADSB):c.655G>A (p.Val219Met)
|
rs553730391
|
0.00001
|
|
NM_001609.4(ACADSB):c.669A>G (p.Val223=)
|
rs750818948
|
0.00001
|
|
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr)
|
rs755158007
|
0.00001
|
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
|
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)
|
rs1266747835
|
0.00001
|
|
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)
|
rs770456976
|
0.00001
|
|
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)
|
rs772918339
|
0.00001
|
|
NM_001698.3(AUH):c.222G>A (p.Glu74=)
|
rs1587943178
|
0.00001
|
|
NM_001698.3(AUH):c.25C>G (p.Pro9Ala)
|
rs1461159226
|
0.00001
|
|
NM_001698.3(AUH):c.305C>T (p.Ser102Leu)
|
rs368115216
|
0.00001
|
|
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
|
rs531669666
|
0.00001
|
|
NM_001698.3(AUH):c.331-8C>T
|
rs758271092
|
0.00001
|
|
NM_001698.3(AUH):c.476C>G (p.Ser159Cys)
|
rs1282582845
|
0.00001
|
|
NM_001698.3(AUH):c.547G>A (p.Ala183Thr)
|
rs548411527
|
0.00001
|
|
NM_001698.3(AUH):c.56G>T (p.Gly19Val)
|
rs1832891431
|
0.00001
|
|
NM_001698.3(AUH):c.655+3A>C
|
rs755914350
|
0.00001
|
|
NM_001698.3(AUH):c.656-2del
|
rs780964098
|
0.00001
|
|
NM_001698.3(AUH):c.769G>A (p.Val257Ile)
|
rs749920943
|
0.00001
|
|
NM_001698.3(AUH):c.797C>T (p.Ala266Val)
|
rs570875104
|
0.00001
|
|
NM_001698.3(AUH):c.798G>A (p.Ala266=)
|
rs760509061
|
0.00001
|
|
NM_001698.3(AUH):c.860G>C (p.Arg287Thr)
|
rs1826877739
|
0.00001
|
|
NM_001698.3(AUH):c.864G>A (p.Val288=)
|
rs199569104
|
0.00001
|
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
|
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
|
rs746215620
|
0.00001
|
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
|
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
|
rs139908696
|
0.00001
|
|
NM_002225.5(IVD):c.1014G>A (p.Gln338=)
|
rs1891648588
|
0.00001
|
|
NM_002225.5(IVD):c.1026T>C (p.Asn342=)
|
rs1401482066
|
0.00001
|
|
NM_002225.5(IVD):c.1053T>C (p.His351=)
|
rs763091729
|
0.00001
|
|
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)
|
rs368705240
|
0.00001
|
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
|
NM_002225.5(IVD):c.1138+1G>A
|
rs1193235415
|
0.00001
|
|
NM_002225.5(IVD):c.1146T>C (p.Asn382=)
|
rs1419468231
|
0.00001
|
|
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
|
rs1163816425
|
0.00001
|
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
|
NM_002225.5(IVD):c.1185A>G (p.Arg395=)
|
rs375709475
|
0.00001
|
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
|
NM_002225.5(IVD):c.123G>C (p.Gly41=)
|
rs139179135
|
0.00001
|
|
NM_002225.5(IVD):c.124C>G (p.Leu42Val)
|
rs777674887
|
0.00001
|
|
NM_002225.5(IVD):c.145-5A>G
|
rs746358275
|
0.00001
|
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
|
NM_002225.5(IVD):c.204C>T (p.Ile68=)
|
rs780579571
|
0.00001
|
|
NM_002225.5(IVD):c.227A>G (p.Asn76Ser)
|
rs1398705262
|
0.00001
|
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
|
NM_002225.5(IVD):c.235-8G>A
|
rs1035492488
|
0.00001
|
|
NM_002225.5(IVD):c.252G>A (p.Leu84=)
|
rs756466515
|
0.00001
|
|
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)
|
rs779579351
|
0.00001
|
|
NM_002225.5(IVD):c.27G>T (p.Gly9=)
|
rs760413553
|
0.00001
|
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
|
NM_002225.5(IVD):c.297C>T (p.Gly99=)
|
rs377129112
|
0.00001
|
|
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
|
rs1465206137
|
0.00001
|
|
NM_002225.5(IVD):c.330G>A (p.Leu110=)
|
rs746017260
|
0.00001
|
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
|
NM_002225.5(IVD):c.372C>T (p.Leu124=)
|
rs964820890
|
0.00001
|
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
|
NM_002225.5(IVD):c.453G>A (p.Pro151=)
|
rs535261722
|
0.00001
|
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
|
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117
|
0.00001
|
|
NM_002225.5(IVD):c.457-9T>C
|
rs1418302146
|
0.00001
|
|
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461
|
0.00001
|
|
NM_002225.5(IVD):c.474C>T (p.Tyr158=)
|
rs1033930341
|
0.00001
|
|
NM_002225.5(IVD):c.477C>T (p.Ile159=)
|
rs758187120
|
0.00001
|
|
NM_002225.5(IVD):c.486G>A (p.Leu162=)
|
rs755094829
|
0.00001
|
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
|
NM_002225.5(IVD):c.57G>A (p.Pro19=)
|
rs1277276427
|
0.00001
|
|
NM_002225.5(IVD):c.666C>T (p.Ile222=)
|
rs772662373
|
0.00001
|
|
NM_002225.5(IVD):c.675C>T (p.Phe225=)
|
rs749242305
|
0.00001
|
|
NM_002225.5(IVD):c.690T>C (p.Gly230=)
|
rs1182189552
|
0.00001
|
|
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
|
rs1891244554
|
0.00001
|
|
NM_002225.5(IVD):c.726G>C (p.Lys242Asn)
|
rs794727857
|
0.00001
|
|
NM_002225.5(IVD):c.759A>T (p.Leu253=)
|
rs1237759561
|
0.00001
|
|
NM_002225.5(IVD):c.784+12C>T
|
rs572858305
|
0.00001
|
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
|
NM_002225.5(IVD):c.785-4G>A
|
rs369133260
|
0.00001
|
|
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574
|
0.00001
|
|
NM_002225.5(IVD):c.798G>C (p.Leu266=)
|
rs1263112437
|
0.00001
|
|
NM_002225.5(IVD):c.81G>A (p.Gln27=)
|
rs898534021
|
0.00001
|
|
NM_002225.5(IVD):c.822C>T (p.Tyr274=)
|
rs375580399
|
0.00001
|
|
NM_002225.5(IVD):c.864C>T (p.Ala288=)
|
rs1566939786
|
0.00001
|
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
|
NM_002225.5(IVD):c.948C>T (p.Ile316=)
|
rs754100750
|
0.00001
|
|
NM_002225.5(IVD):c.960+7C>T
|
rs113361784
|
0.00001
|
|
NM_002225.5(IVD):c.972G>A (p.Gly324=)
|
rs748522492
|
0.00001
|
|
NM_002225.5(IVD):c.994C>T (p.Arg332Cys)
|
rs1891643589
|
0.00001
|
|
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
|
rs1446995315
|
0.00001
|
|
NM_005050.4(ABCD4):c.1028+17C>T
|
rs1290816055
|
0.00001
|
|
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
|
rs546298874
|
0.00001
|
|
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
|
rs754280972
|
0.00001
|
|
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
|
rs201586690
|
0.00001
|
|
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
|
rs759539743
|
0.00001
|
|
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=)
|
rs760206135
|
0.00001
|
|
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=)
|
rs780349078
|
0.00001
|
|
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
|
rs1360319567
|
0.00001
|
|
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=)
|
rs747273884
|
0.00001
|
|
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
|
rs555792734
|
0.00001
|
|
NM_005050.4(ABCD4):c.158-7C>A
|
rs557930358
|
0.00001
|
|
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)
|
rs780846855
|
0.00001
|
|
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
|
rs2083804334
|
0.00001
|
|
NM_005050.4(ABCD4):c.1752+2T>C
|
rs151116417
|
0.00001
|
|
NM_005050.4(ABCD4):c.1753-18G>A
|
rs772567988
|
0.00001
|
|
NM_005050.4(ABCD4):c.1753-4G>A
|
rs554458015
|
0.00001
|
|
NM_005050.4(ABCD4):c.285+19T>C
|
rs369159114
|
0.00001
|
|
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
|
rs371774856
|
0.00001
|
|
NM_005050.4(ABCD4):c.360C>T (p.His120=)
|
rs1050702853
|
0.00001
|
|
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)
|
rs1349388678
|
0.00001
|
|
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys)
|
rs776529140
|
0.00001
|
|
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
|
rs373322009
|
0.00001
|
|
NM_005050.4(ABCD4):c.542+1G>T
|
rs769364566
|
0.00001
|
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
|
NM_005050.4(ABCD4):c.594C>T (p.Thr198=)
|
rs202070697
|
0.00001
|
|
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)
|
rs1280841182
|
0.00001
|
|
NM_005050.4(ABCD4):c.669-7C>T
|
rs371152472
|
0.00001
|
|
NM_005050.4(ABCD4):c.6G>A (p.Ala2=)
|
rs1486429349
|
0.00001
|
|
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
|
rs761053363
|
0.00001
|
|
NM_005050.4(ABCD4):c.9C>G (p.Val3=)
|
rs72542410
|
0.00001
|
|
NM_005334.3(HCFC1):c.1085-15T>C
|
rs782302951
|
0.00001
|
|
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
|
rs1557116370
|
0.00001
|
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
|
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
|
rs782634164
|
0.00001
|
|
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=)
|
rs782186278
|
0.00001
|
|
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=)
|
rs1557115850
|
0.00001
|
|
NM_005334.3(HCFC1):c.2029-17C>T
|
rs1184396495
|
0.00001
|
|
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
|
rs1322440288
|
0.00001
|
|
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=)
|
rs1557115422
|
0.00001
|
|
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)
|
rs782276292
|
0.00001
|
|
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
|
rs782533163
|
0.00001
|
|
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
|
rs1557115062
|
0.00001
|
|
NM_005334.3(HCFC1):c.2636-16G>T
|
rs782607911
|
0.00001
|
|
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=)
|
rs782558280
|
0.00001
|
|
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
|
rs782774910
|
0.00001
|
|
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)
|
rs374223163
|
0.00001
|
|
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)
|
rs375223452
|
0.00001
|
|
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=)
|
rs868910589
|
0.00001
|
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
|
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=)
|
rs782676033
|
0.00001
|
|
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
|
rs782473277
|
0.00001
|
|
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=)
|
rs1204221011
|
0.00001
|
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
|
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg)
|
rs781875988
|
0.00001
|
|
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)
|
rs782766895
|
0.00001
|
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
|
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)
|
rs946537625
|
0.00001
|
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
|
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)
|
rs782136932
|
0.00001
|
|
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=)
|
rs782322654
|
0.00001
|
|
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
|
rs371594842
|
0.00001
|
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
|
NM_005334.3(HCFC1):c.4333+11G>T
|
rs1557113474
|
0.00001
|
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
|
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
|
rs1272514582
|
0.00001
|
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
|
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=)
|
rs368086196
|
0.00001
|
|
NM_005334.3(HCFC1):c.4942+9C>T
|
rs782480118
|
0.00001
|
|
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)
|
rs782467999
|
0.00001
|
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
|
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=)
|
rs372903122
|
0.00001
|
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
|
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)
|
rs377138805
|
0.00001
|
|
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)
|
rs2065298662
|
0.00001
|
|
NM_005334.3(HCFC1):c.6069-16T>C
|
rs1184614214
|
0.00001
|
|
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=)
|
rs1242952055
|
0.00001
|
|
NM_005334.3(HCFC1):c.648C>G (p.Ser216=)
|
rs1557117476
|
0.00001
|
|
NM_005334.3(HCFC1):c.684G>A (p.Arg228=)
|
rs781873669
|
0.00001
|
|
NM_005334.3(HCFC1):c.753G>A (p.Ala251=)
|
rs1557117195
|
0.00001
|
|
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)
|
rs142607404
|
0.00001
|
|
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)
|
rs1370340054
|
0.00001
|
|
NM_014362.4(HIBCH):c.153A>G (p.Leu51=)
|
rs768948062
|
0.00001
|
|
NM_014362.4(HIBCH):c.196C>A (p.Arg66=)
|
rs757976755
|
0.00001
|
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
|
NM_014362.4(HIBCH):c.35+10A>C
|
rs747167987
|
0.00001
|
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
|
NM_014362.4(HIBCH):c.891+1G>A
|
rs915412371
|
0.00001
|
|
NM_014362.4(HIBCH):c.892-18A>C
|
rs113980003
|
0.00001
|
|
NM_014362.4(HIBCH):c.897T>C (p.Ile299=)
|
rs763947247
|
0.00001
|
|
NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala)
|
rs558397748
|
0.00001
|
|
NM_014384.3(ACAD8):c.1000C>T (p.Arg334Cys)
|
rs778823613
|
0.00001
|
|
NM_014384.3(ACAD8):c.233T>C (p.Met78Thr)
|
rs767613745
|
0.00001
|
|
NM_014384.3(ACAD8):c.250C>G (p.Leu84Val)
|
rs1330918776
|
0.00001
|
|
NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser)
|
rs773472208
|
0.00001
|
|
NM_014384.3(ACAD8):c.292T>C (p.Ser98Pro)
|
rs773978651
|
0.00001
|
|
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr)
|
rs767041100
|
0.00001
|
|
NM_014384.3(ACAD8):c.308T>G (p.Leu103Arg)
|
rs763906092
|
0.00001
|
|
NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser)
|
rs1939586683
|
0.00001
|
|
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr)
|
rs751633406
|
0.00001
|
|
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly)
|
rs1288285713
|
0.00001
|
|
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)
|
rs367999938
|
0.00001
|
|
NM_014384.3(ACAD8):c.611T>C (p.Met204Thr)
|
rs1939759468
|
0.00001
|
|
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val)
|
rs151125742
|
0.00001
|
|
NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala)
|
rs748422726
|
0.00001
|
|
NM_014384.3(ACAD8):c.734C>T (p.Ala245Val)
|
rs780609527
|
0.00001
|
|
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
|
rs142790411
|
0.00001
|
|
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe)
|
rs770663870
|
0.00001
|
|
NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp)
|
rs1278727402
|
0.00001
|
|
NM_014384.3(ACAD8):c.948A>G (p.Gln316=)
|
rs148005336
|
0.00001
|
|
NM_014384.3(ACAD8):c.964A>G (p.Met322Val)
|
rs1167657404
|
0.00001
|
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
|
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln)
|
rs752153225
|
0.00001
|
|
NM_015506.3(MMACHC):c.114C>T (p.Ala38=)
|
rs372262322
|
0.00001
|
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
|
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
|
rs371927733
|
0.00001
|
|
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
|
rs535215325
|
0.00001
|
|
NM_015506.3(MMACHC):c.199T>C (p.Leu67=)
|
rs1272042617
|
0.00001
|
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
|
NM_015506.3(MMACHC):c.213C>T (p.His71=)
|
rs746112343
|
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.258T>C (p.His86=)
|
rs1005452717
|
0.00001
|
|
NM_015506.3(MMACHC):c.276+10G>A
|
rs1229858789
|
0.00001
|
|
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)
|
rs751229877
|
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.349G>C (p.Ala117Pro)
|
rs752205161
|
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.38A>C (p.Glu13Ala)
|
rs1010232462
|
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.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
|
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
|
rs563710045
|
0.00001
|
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
|
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
|
rs1035201847
|
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.439G>A (p.Gly147Ser)
|
rs1553162901
|
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.48A>G (p.Leu16=)
|
rs1366120426
|
0.00001
|
|
NM_015506.3(MMACHC):c.520C>T (p.Leu174=)
|
rs1298700969
|
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.570C>T (p.Ile190=)
|
rs769162698
|
0.00001
|
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
|
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
|
rs577804554
|
0.00001
|
|
NM_015506.3(MMACHC):c.636G>A (p.Gln212=)
|
rs774357624
|
0.00001
|
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
|
NM_015506.3(MMACHC):c.696C>T (p.Ala232=)
|
rs767496391
|
0.00001
|
|
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
|
rs750002717
|
0.00001
|
|
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
|
rs755881820
|
0.00001
|
|
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)
|
rs749003802
|
0.00001
|
|
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
|
rs376037114
|
0.00001
|
|
NM_015506.3(MMACHC):c.792C>T (p.Ser264=)
|
rs1458150108
|
0.00001
|
|
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
|
rs941778714
|
0.00001
|
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
|
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)
|
rs1288893138
|
0.00001
|
|
NM_015702.3(MMADHC):c.10-1G>C
|
rs1573880177
|
0.00001
|
|
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
|
rs1448387303
|
0.00001
|
|
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)
|
rs775175927
|
0.00001
|
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
|
NM_015702.3(MMADHC):c.237T>C (p.Gly79=)
|
rs763521620
|
0.00001
|
|
NM_015702.3(MMADHC):c.372+1G>A
|
rs755561981
|
0.00001
|
|
NM_015702.3(MMADHC):c.372+7T>C
|
rs368516017
|
0.00001
|
|
NM_015702.3(MMADHC):c.373-16T>C
|
rs754844727
|
0.00001
|
|
NM_015702.3(MMADHC):c.373-8C>A
|
rs766361763
|
0.00001
|
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
|
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)
|
rs1478523517
|
0.00001
|
|
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)
|
rs780889876
|
0.00001
|
|
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)
|
rs778778537
|
0.00001
|
|
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)
|
rs1282238457
|
0.00001
|
|
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)
|
rs757784250
|
0.00001
|
|
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)
|
rs1485998377
|
0.00001
|
|
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=)
|
rs1427942673
|
0.00001
|
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
|
NM_015702.3(MMADHC):c.765T>C (p.Ser255=)
|
rs376860199
|
0.00001
|
|
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)
|
rs766017009
|
0.00001
|
|
NM_015702.3(MMADHC):c.828A>G (p.Val276=)
|
rs937318527
|
0.00001
|
|
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)
|
rs768988562
|
0.00001
|
|
NM_015702.3(MMADHC):c.9+12A>C
|
rs570608507
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=)
|
rs558926049
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
|
rs1380343985
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln)
|
rs772350306
|
0.00001
|
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
|
rs1364347331
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)
|
rs781535724
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=)
|
rs1382933312
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1417+9A>G
|
rs763882735
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1418-20T>A
|
rs758519179
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1510-19G>A
|
rs1484305691
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=)
|
rs771408766
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)
|
rs982934588
|
0.00001
|
|
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val)
|
rs765308443
|
0.00001
|
|
NM_018368.4(LMBRD1):c.247-4C>T
|
rs1321930777
|
0.00001
|
|
NM_018368.4(LMBRD1):c.291A>G (p.Val97=)
|
rs752864942
|
0.00001
|
|
NM_018368.4(LMBRD1):c.562+1G>A
|
rs372279393
|
0.00001
|
|
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
|
rs1562105981
|
0.00001
|
|
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro)
|
rs1766557026
|
0.00001
|
|
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
|
rs1297619412
|
0.00001
|
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
|
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=)
|
rs773895702
|
0.00001
|
|
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
|
rs965802215
|
0.00001
|
|
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)
|
rs367625370
|
0.00001
|
|
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=)
|
rs746900508
|
0.00001
|
|
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile)
|
rs1714102747
|
0.00001
|
|
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
|
rs1333357031
|
0.00001
|
|
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=)
|
rs777766730
|
0.00001
|
|
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=)
|
rs781302711
|
0.00001
|
|
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser)
|
rs1560224165
|
0.00001
|
|
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)
|
rs1484347924
|
0.00001
|
|
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
|
rs946293038
|
0.00001
|
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
|
NM_020166.5(MCCC1):c.1268-1G>A
|
rs1191868168
|
0.00001
|
|
NM_020166.5(MCCC1):c.1268-7A>G
|
rs1417892958
|
0.00001
|
|
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=)
|
rs779316162
|
0.00001
|
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
|
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)
|
rs398124352
|
0.00001
|
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
|
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile)
|
rs1410294013
|
0.00001
|
|
NM_020166.5(MCCC1):c.135A>T (p.Thr45=)
|
rs1286585591
|
0.00001
|
|
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys)
|
rs369847846
|
0.00001
|
|
NM_020166.5(MCCC1):c.1377+18G>A
|
rs1373677740
|
0.00001
|
|
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=)
|
rs780740389
|
0.00001
|
|
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=)
|
rs763803301
|
0.00001
|
|
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
|
rs1713700813
|
0.00001
|
|
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=)
|
rs746494126
|
0.00001
|
|
NM_020166.5(MCCC1):c.1594+6G>C
|
rs777825199
|
0.00001
|
|
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser)
|
rs1553853001
|
0.00001
|
|
NM_020166.5(MCCC1):c.1681+2T>C
|
rs1333994006
|
0.00001
|
|
NM_020166.5(MCCC1):c.1682-3A>G
|
rs760180709
|
0.00001
|
|
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser)
|
rs112307657
|
0.00001
|
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
|
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
|
rs749473644
|
0.00001
|
|
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=)
|
rs200025893
|
0.00001
|
|
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn)
|
rs569721834
|
0.00001
|
|
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=)
|
rs769042107
|
0.00001
|
|
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=)
|
rs747354023
|
0.00001
|
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
|
NM_020166.5(MCCC1):c.183C>T (p.Ala61=)
|
rs756447790
|
0.00001
|
|
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
|
rs758827154
|
0.00001
|
|
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=)
|
rs1382492613
|
0.00001
|
|
NM_020166.5(MCCC1):c.189G>A (p.Arg63=)
|
rs753180751
|
0.00001
|
|
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg)
|
rs755699519
|
0.00001
|
|
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
|
rs903196916
|
0.00001
|
|
NM_020166.5(MCCC1):c.2049+10T>C
|
rs1233685852
|
0.00001
|
|
NM_020166.5(MCCC1):c.2082A>G (p.Val694=)
|
rs765720892
|
0.00001
|
|
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=)
|
rs762296041
|
0.00001
|
|
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
|
rs750133436
|
0.00001
|
|
NM_020166.5(MCCC1):c.2136C>T (p.Val712=)
|
rs984881958
|
0.00001
|
|
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=)
|
rs781286566
|
0.00001
|
|
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn)
|
rs774565207
|
0.00001
|
|
NM_020166.5(MCCC1):c.263A>G (p.His88Arg)
|
rs1352224093
|
0.00001
|
|
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr)
|
rs1453501166
|
0.00001
|
|
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val)
|
rs772547872
|
0.00001
|
|
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
|
rs1163620394
|
0.00001
|
|
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)
|
rs920162850
|
0.00001
|
|
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val)
|
rs754963220
|
0.00001
|
|
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
|
rs780072787
|
0.00001
|
|
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn)
|
rs1055095015
|
0.00001
|
|
NM_020166.5(MCCC1):c.492-4A>G
|
rs908545297
|
0.00001
|
|
NM_020166.5(MCCC1):c.492-6C>T
|
rs746685018
|
0.00001
|
|
NM_020166.5(MCCC1):c.492-7T>C
|
rs768336115
|
0.00001
|
|
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)
|
rs748201122
|
0.00001
|
|
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val)
|
rs1198116993
|
0.00001
|
|
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)
|
rs149268368
|
0.00001
|
|
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
|
rs749287771
|
0.00001
|
|
NM_020166.5(MCCC1):c.639+2T>A
|
rs199914879
|
0.00001
|
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
|
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu)
|
rs1248070890
|
0.00001
|
|
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)
|
rs727504004
|
0.00001
|
|
NM_020166.5(MCCC1):c.6G>A (p.Ala2=)
|
rs768348047
|
0.00001
|
|
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
|
rs1716633366
|
0.00001
|
|
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys)
|
rs952738286
|
0.00001
|
|
NM_020166.5(MCCC1):c.762G>A (p.Arg254=)
|
rs149389595
|
0.00001
|
|
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr)
|
rs767642062
|
0.00001
|
|
NM_020166.5(MCCC1):c.804del (p.Val269fs)
|
rs1307113234
|
0.00001
|
|
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
|
rs1164035251
|
0.00001
|
|
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln)
|
rs754437245
|
0.00001
|
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
|
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
|
rs748269732
|
0.00001
|
|
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
|
rs974953181
|
0.00001
|
|
NM_020166.5(MCCC1):c.89+1G>C
|
rs771730236
|
0.00001
|
|
NM_020166.5(MCCC1):c.89+20C>T
|
rs749164963
|
0.00001
|
|
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)
|
rs750484977
|
0.00001
|
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
|
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)
|
rs760703487
|
0.00001
|
|
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
|
rs759809368
|
0.00001
|
|
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)
|
rs765438239
|
0.00001
|
|
NM_022132.5(MCCC2):c.105G>A (p.Pro35=)
|
rs1365918358
|
0.00001
|
|
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)
|
rs751393852
|
0.00001
|
|
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=)
|
rs1394757971
|
0.00001
|
|
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)
|
rs760363054
|
0.00001
|
|
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser)
|
rs1427630056
|
0.00001
|
|
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro)
|
rs750782118
|
0.00001
|
|
NM_022132.5(MCCC2):c.1216+10T>C
|
rs777129152
|
0.00001
|
|
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=)
|
rs375010821
|
0.00001
|
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
|
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
|
rs779770835
|
0.00001
|
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
|
NM_022132.5(MCCC2):c.1374-19C>A
|
rs761903116
|
0.00001
|
|
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val)
|
rs1747390697
|
0.00001
|
|
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys)
|
rs778734586
|
0.00001
|
|
NM_022132.5(MCCC2):c.13C>T (p.Leu5=)
|
rs954414863
|
0.00001
|
|
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)
|
rs780304038
|
0.00001
|
|
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg)
|
rs769558016
|
0.00001
|
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
|
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=)
|
rs1345577961
|
0.00001
|
|
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp)
|
rs531891095
|
0.00001
|
|
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=)
|
rs201279542
|
0.00001
|
|
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)
|
rs756664143
|
0.00001
|
|
NM_022132.5(MCCC2):c.1488+9C>T
|
rs1561848361
|
0.00001
|
|
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
|
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=)
|
rs1747468314
|
0.00001
|
|
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=)
|
rs146674014
|
0.00001
|
|
NM_022132.5(MCCC2):c.1574+7G>T
|
rs766044711
|
0.00001
|
|
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp)
|
rs766384881
|
0.00001
|
|
NM_022132.5(MCCC2):c.1623G>T (p.Leu541Phe)
|
rs753443203
|
0.00001
|
|
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val)
|
rs778172446
|
0.00001
|
|
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr)
|
rs373922744
|
0.00001
|
|
NM_022132.5(MCCC2):c.196+20C>T
|
rs766988420
|
0.00001
|
|
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)
|
rs1304896406
|
0.00001
|
|
NM_022132.5(MCCC2):c.281+5G>A
|
rs944539388
|
0.00001
|
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
|
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val)
|
rs771719423
|
0.00001
|
|
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys)
|
rs1450884624
|
0.00001
|
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
|
NM_022132.5(MCCC2):c.336G>A (p.Glu112=)
|
rs1325018619
|
0.00001
|
|
NM_022132.5(MCCC2):c.383+17T>C
|
rs1745350073
|
0.00001
|
|
NM_022132.5(MCCC2):c.383+2del
|
rs1745349463
|
0.00001
|
|
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp)
|
rs1402663229
|
0.00001
|
|
NM_022132.5(MCCC2):c.456A>G (p.Lys152=)
|
rs1409261895
|
0.00001
|
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
|
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)
|
rs727504009
|
0.00001
|
|
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys)
|
rs944412136
|
0.00001
|
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
|
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys)
|
rs1580281124
|
0.00001
|
|
NM_022132.5(MCCC2):c.51C>G (p.Pro17=)
|
rs1390205513
|
0.00001
|
|
NM_022132.5(MCCC2):c.549T>C (p.Asp183=)
|
rs1400921456
|
0.00001
|
|
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
|
rs774180632
|
0.00001
|
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
|
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)
|
rs764286389
|
0.00001
|
|
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys)
|
rs368906147
|
0.00001
|
|
NM_022132.5(MCCC2):c.624+13G>T
|
rs376190037
|
0.00001
|
|
NM_022132.5(MCCC2):c.625-17G>A
|
rs771274447
|
0.00001
|
|
NM_022132.5(MCCC2):c.627C>T (p.Ile209=)
|
rs777033953
|
0.00001
|
|
NM_022132.5(MCCC2):c.651C>T (p.Thr217=)
|
rs1380948898
|
0.00001
|
|
NM_022132.5(MCCC2):c.657A>C (p.Gly219=)
|
rs1350958601
|
0.00001
|
|
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)
|
rs753735697
|
0.00001
|
|
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe)
|
rs531567604
|
0.00001
|
|
NM_022132.5(MCCC2):c.736T>C (p.Leu246=)
|
rs1303225809
|
0.00001
|
|
NM_022132.5(MCCC2):c.739-7G>T
|
rs765082065
|
0.00001
|
|
NM_022132.5(MCCC2):c.753T>C (p.Thr251=)
|
rs3736398
|
0.00001
|
|
NM_022132.5(MCCC2):c.798T>C (p.His266=)
|
rs932586663
|
0.00001
|
|
NM_022132.5(MCCC2):c.804-10T>C
|
rs1295275733
|
0.00001
|
|
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly)
|
rs1199145486
|
0.00001
|
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
|
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)
|
rs376237028
|
0.00001
|
|
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)
|
rs1368817393
|
0.00001
|
|
NM_022132.5(MCCC2):c.903+8C>T
|
rs1348079727
|
0.00001
|
|
NM_022132.5(MCCC2):c.904-4G>T
|
rs758885126
|
0.00001
|
|
NM_022132.5(MCCC2):c.904-5T>A
|
rs753258629
|
0.00001
|
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
|
NM_025136.4(OPA3):c.120T>C (p.Tyr40=)
|
rs752657560
|
0.00001
|
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
|
NM_025136.4(OPA3):c.142+10A>T
|
rs539476253
|
0.00001
|
|
NM_025136.4(OPA3):c.143-6C>T
|
rs760030315
|
0.00001
|
|
NM_025136.4(OPA3):c.143-9C>G
|
rs1342185871
|
0.00001
|
|
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)
|
rs753129998
|
0.00001
|
|
NM_025136.4(OPA3):c.222G>A (p.Glu74=)
|
rs1241138154
|
0.00001
|
|
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)
|
rs769541845
|
0.00001
|
|
NM_025136.4(OPA3):c.237G>C (p.Leu79=)
|
rs943536843
|
0.00001
|
|
NM_025136.4(OPA3):c.252G>A (p.Leu84=)
|
rs757297634
|
0.00001
|
|
NM_025136.4(OPA3):c.255C>T (p.Gly85=)
|
rs951025429
|
0.00001
|
|
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)
|
rs1599964564
|
0.00001
|
|
NM_025136.4(OPA3):c.354C>T (p.Ala118=)
|
rs745763712
|
0.00001
|
|
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)
|
rs375471439
|
0.00001
|
|
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)
|
rs1346674058
|
0.00001
|
|
NM_025136.4(OPA3):c.381C>T (p.Gly127=)
|
rs1405668670
|
0.00001
|
|
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)
|
rs372640359
|
0.00001
|
|
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)
|
rs1399150102
|
0.00001
|
|
NM_025136.4(OPA3):c.426G>A (p.Ala142=)
|
rs1289276507
|
0.00001
|
|
NM_025136.4(OPA3):c.441C>G (p.Gly147=)
|
rs1049255184
|
0.00001
|
|
NM_025136.4(OPA3):c.444C>T (p.Ala148=)
|
rs759536853
|
0.00001
|
|
NM_025136.4(OPA3):c.453A>G (p.Glu151=)
|
rs1338422249
|
0.00001
|
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
|
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg)
|
rs1364874488
|
0.00001
|
|
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)
|
rs779505447
|
0.00001
|
|
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)
|
rs374639297
|
0.00001
|
|
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
|
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)
|
rs774281852
|
0.00001
|
|
NM_025136.4(OPA3):c.78T>C (p.Arg26=)
|
rs1372988634
|
0.00001
|
|
NM_025136.4(OPA3):c.87G>A (p.Glu29=)
|
rs1194417590
|
0.00001
|
|
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg)
|
rs749611577
|
0.00001
|
|
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter)
|
rs780554501
|
0.00001
|
|
NM_032861.4(SERAC1):c.1016-5A>G
|
rs1321114507
|
0.00001
|
|
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter)
|
rs758745099
|
0.00001
|
|
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)
|
rs199632531
|
0.00001
|
|
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg)
|
rs779061767
|
0.00001
|
|
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met)
|
rs780982964
|
0.00001
|
|
NM_032861.4(SERAC1):c.1403+5C>G
|
rs770722498
|
0.00001
|
|
NM_032861.4(SERAC1):c.1501+6T>G
|
rs760987565
|
0.00001
|
|
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)
|
rs751450632
|
0.00001
|
|
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala)
|
rs201367107
|
0.00001
|
|
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=)
|
rs1219406942
|
0.00001
|
|
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=)
|
rs1398045297
|
0.00001
|
|
NM_032861.4(SERAC1):c.1685-12A>G
|
rs1327940001
|
0.00001
|
|
NM_032861.4(SERAC1):c.1685-3C>T
|
rs367733861
|
0.00001
|
|
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)
|
rs1478893955
|
0.00001
|
|
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)
|
rs756012789
|
0.00001
|
|
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
|
rs1020569740
|
0.00001
|
|
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys)
|
rs575982148
|
0.00001
|
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
|
NM_032861.4(SERAC1):c.285A>G (p.Arg95=)
|
rs752918334
|
0.00001
|
|
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu)
|
rs1258024323
|
0.00001
|
|
NM_032861.4(SERAC1):c.387T>C (p.His129=)
|
rs781658698
|
0.00001
|
|
NM_032861.4(SERAC1):c.487+12A>G
|
rs531094036
|
0.00001
|
|
NM_032861.4(SERAC1):c.525G>A (p.Pro175=)
|
rs774652383
|
0.00001
|
|
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe)
|
rs1243289662
|
0.00001
|
|
NM_032861.4(SERAC1):c.738+7T>C
|
rs1784954711
|
0.00001
|
|
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu)
|
rs1404505029
|
0.00001
|
|
NM_052845.4(MMAB):c.135-4T>C
|
rs1025409144
|
0.00001
|
|
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
|
rs759809454
|
0.00001
|
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
|
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
|
rs571555515
|
0.00001
|
|
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
|
rs770743560
|
0.00001
|
|
NM_052845.4(MMAB):c.255C>T (p.Ala85=)
|
rs894225131
|
0.00001
|
|
NM_052845.4(MMAB):c.348+10_348+13del
|
rs775340018
|
0.00001
|
|
NM_052845.4(MMAB):c.348+7A>G
|
rs769138883
|
0.00001
|
|
NM_052845.4(MMAB):c.348+9C>T
|
rs747459155
|
0.00001
|
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
|
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
|
rs1393235772
|
0.00001
|
|
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
|
rs1055749855
|
0.00001
|
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00001
|
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
|
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
|
rs755568905
|
0.00001
|
|
NM_052845.4(MMAB):c.422-6C>T
|
rs759110803
|
0.00001
|
|
NM_052845.4(MMAB):c.423G>A (p.Lys141=)
|
rs1474862262
|
0.00001
|
|
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
|
rs886198506
|
0.00001
|
|
NM_052845.4(MMAB):c.432G>C (p.Thr144=)
|
rs200127370
|
0.00001
|
|
NM_052845.4(MMAB):c.451C>T (p.Leu151=)
|
rs1884202824
|
0.00001
|
|
NM_052845.4(MMAB):c.456G>A (p.Glu152=)
|
rs1884202411
|
0.00001
|
|
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
|
rs767045171
|
0.00001
|
|
NM_052845.4(MMAB):c.465G>A (p.Gln155=)
|
rs1323701026
|
0.00001
|
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
|
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)
|
rs758790126
|
0.00001
|
|
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
|
rs138069953
|
0.00001
|
|
NM_052845.4(MMAB):c.540G>A (p.Ser180=)
|
rs754311573
|
0.00001
|
|
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
|
rs145411521
|
0.00001
|
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
|
NM_052845.4(MMAB):c.615C>T (p.Thr205=)
|
rs760629956
|
0.00001
|
|
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)
|
rs763383858
|
0.00001
|
|
NM_052845.4(MMAB):c.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
|
NM_052845.4(MMAB):c.644+6C>T
|
rs376868629
|
0.00001
|
|
NM_052845.4(MMAB):c.645-8C>G
|
rs1251570137
|
0.00001
|
|
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
|
rs940651669
|
0.00001
|
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
|
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=)
|
rs1400868784
|
0.00001
|
|
NM_145261.4(DNAJC19):c.129+11G>T
|
rs546533068
|
0.00001
|
|
NM_145261.4(DNAJC19):c.130-1G>C
|
rs137854888
|
0.00001
|
|
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser)
|
rs781284254
|
0.00001
|
|
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His)
|
rs1714943164
|
0.00001
|
|
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser)
|
rs754317673
|
0.00001
|
|
NM_145261.4(DNAJC19):c.210-19C>T
|
rs780397593
|
0.00001
|
|
NM_145261.4(DNAJC19):c.280+16A>T
|
rs773185733
|
0.00001
|
|
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val)
|
rs762783413
|
0.00001
|
|
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser)
|
rs200732155
|
0.00001
|
|
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg)
|
rs1253268997
|
0.00001
|
|
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=)
|
rs771098271
|
0.00001
|
|
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)
|
rs1560040369
|
0.00001
|
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
|
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)
|
rs1560802980
|
0.00001
|
|
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)
|
rs1010401774
|
0.00001
|
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
|
NM_172250.3(MMAA):c.159G>A (p.Lys53=)
|
rs1191388669
|
0.00001
|
|
NM_172250.3(MMAA):c.15A>G (p.Leu5=)
|
rs755914586
|
0.00001
|
|
NM_172250.3(MMAA):c.177T>C (p.Asp59=)
|
rs1727713075
|
0.00001
|
|
NM_172250.3(MMAA):c.258G>A (p.Val86=)
|
rs1240108337
|
0.00001
|
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
|
NM_172250.3(MMAA):c.336C>T (p.His112=)
|
rs771388415
|
0.00001
|
|
NM_172250.3(MMAA):c.33T>C (p.His11=)
|
rs370983676
|
0.00001
|
|
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
|
NM_172250.3(MMAA):c.440-5C>T
|
rs759611574
|
0.00001
|
|
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)
|
rs753463116
|
0.00001
|
|
NM_172250.3(MMAA):c.563-9A>G
|
rs1361037765
|
0.00001
|
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
|
NM_172250.3(MMAA):c.651dup (p.Gly218fs)
|
rs1314623572
|
0.00001
|
|
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
|
rs1036460255
|
0.00001
|
|
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
|
rs889048711
|
0.00001
|
|
NM_172250.3(MMAA):c.702G>A (p.Ala234=)
|
rs781525637
|
0.00001
|
|
NM_172250.3(MMAA):c.721A>G (p.Ile241Val)
|
rs756221585
|
0.00001
|
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
|
NM_172250.3(MMAA):c.734-8A>G
|
rs778057240
|
0.00001
|
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
|
NM_172250.3(MMAA):c.756T>C (p.Ala252=)
|
rs781124654
|
0.00001
|
|
NM_172250.3(MMAA):c.756del (p.Val253fs)
|
rs1489525542
|
0.00001
|
|
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)
|
rs769722136
|
0.00001
|
|
NM_172250.3(MMAA):c.763G>C (p.Asp255His)
|
rs1267434098
|
0.00001
|
|
NM_172250.3(MMAA):c.795A>C (p.Pro265=)
|
rs767934772
|
0.00001
|
|
NM_172250.3(MMAA):c.819+10T>A
|
rs1202834297
|
0.00001
|
|
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
|
rs1204400776
|
0.00001
|
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
|
NM_172250.3(MMAA):c.840C>T (p.Ile280=)
|
rs750509072
|
0.00001
|
|
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
|
rs367809749
|
0.00001
|
|
NM_172250.3(MMAA):c.891G>A (p.Val297=)
|
rs1315370286
|
0.00001
|
|
NM_172250.3(MMAA):c.927A>G (p.Ala309=)
|
rs769082931
|
0.00001
|
|
NM_172250.3(MMAA):c.970-7T>C
|
rs770942394
|
0.00001
|
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
|
NC_000001.10:g.(?_19199339)_(24690861_?)dup
|
|
|
|
NC_000001.10:g.(?_24122439)_(24134833_?)del
|
|
|
|
NC_000001.10:g.(?_24122439)_(24144093_?)del
|
|
|
|
NC_000001.10:g.(?_24125085)_(24151905_?)del
|
|
|
|
NC_000001.10:g.(?_24127494)_(24130949_?)del
|
|
|
|
NC_000001.10:g.(?_24128943)_(24129064_?)del
|
|
|
|
NC_000001.10:g.(?_24128943)_(24131025_?)del
|
|
|
|
NC_000001.10:g.(?_24132578)_(24134831_?)del
|
|
|
|
NC_000001.10:g.(?_24137216)_(24140838_?)del
|
|
|
|
NC_000001.10:g.(?_24137216)_(24151915_?)del
|
|
|
|
NC_000001.10:g.(?_24140670)_(24140838_?)del
|
|
|
|
NC_000001.10:g.(?_24140670)_(24194786_?)del
|
|
|
|
NC_000001.10:g.(?_24146980)_(24147103_?)del
|
|
|
|
NC_000001.10:g.(?_24146990)_(24151915_?)del
|
|
|
|
NC_000001.10:g.(?_24151826)_(24151905_?)del
|
|
|
|
NC_000001.10:g.(?_45965995)_(45966095_?)del
|
|
|
|
NC_000001.10:g.(?_45966005)_(45977106_?)dup
|
|
|
|
NC_000001.10:g.(?_45973008)_(45977106_?)del
|
|
|
|
NC_000001.10:g.(?_45974458)_(45974897_?)del
|
|
|
|
NC_000001.11:g.(?_23825336)_(23825435_?)del
|
|
|
|
NC_000001.11:g.(?_45500323)_(45509225_?)del
|
|
|
|
NC_000001.11:g.(?_45507336)_(45509235_?)dup
|
|
|
|
NC_000002.11:g.(?_150426488)_(150426702_?)del
|
|
|
|
NC_000002.11:g.(?_150426488)_(150443611_?)del
|
|
|
|
NC_000002.11:g.(?_150438631)_(150438795_?)del
|
|
|
|
NC_000002.11:g.(?_150443583)_(150443611_?)del
|
|
|
|
NC_000002.11:g.(?_150443583)_(150443631_?)del
|
|
|
|
NC_000002.12:g.(?_149569954)_(149587117_?)del
|
|
|
|
NC_000002.12:g.(?_149569964)_(149587107_?)del
|
|
|
|
NC_000002.12:g.190246209_190246214del
|
rs1686603593
|
|
|
NC_000003.11:g.(?_135969205)_(135980927_?)del
|
|
|
|
NC_000003.11:g.(?_135969218)_(135969420_?)dup
|
|
|
|
NC_000003.11:g.(?_135969218)_(136048868_?)dup
|
|
|
|
NC_000003.11:g.(?_135974678)_(135979397_?)del
|
|
|
|
NC_000003.11:g.(?_135974688)_(136003251_?)del
|
|
|
|
NC_000003.11:g.(?_135979301)_(135980927_?)del
|
|
|
|
NC_000003.11:g.(?_135980784)_(135980917_?)del
|
|
|
|
NC_000003.11:g.(?_136002659)_(136002809_?)del
|
|
|
|
NC_000003.11:g.(?_136002659)_(136016934_?)del
|
|
|
|
NC_000003.11:g.(?_136002659)_(136035926_?)del
|
|
|
|
NC_000003.11:g.(?_136002669)_(136048878_?)del
|
|
|
|
NC_000003.11:g.(?_136012588)_(136035916_?)del
|
|
|
|
NC_000003.11:g.(?_136016774)_(136016934_?)del
|
|
|
|
NC_000003.11:g.(?_136019862)_(136019963_?)del
|
|
|
|
NC_000003.11:g.(?_136019910)_(136021257_?)del
|
|
|
|
NC_000003.11:g.(?_15512023)_(15687154_?)del
|
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)del
|
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)dup
|
|
|
|
NC_000003.11:g.(?_15643358)_(15683584_?)del
|
|
|
|
NC_000003.11:g.(?_15643358)_(15687154_?)dup
|
|
|
|
NC_000003.11:g.(?_15683405)_(15687154_?)del
|
|
|
|
NC_000003.11:g.(?_180332709)_(180707390_?)del
|
|
|
|
NC_000003.11:g.(?_180707368)_(180707390_?)del
|
|
|
|
NC_000003.11:g.(?_182733206)_(182733374_?)del
|
|
|
|
NC_000003.11:g.(?_182733226)_(182817228_?)dup
|
|
|
|
NC_000003.11:g.(?_182733226)_(184094097_?)del
|
|
|
|
NC_000003.11:g.(?_182743523)_(182743612_?)del
|
|
|
|
NC_000003.11:g.(?_182751759)_(182770048_?)del
|
|
|
|
NC_000003.11:g.(?_182754986)_(182770048_?)del
|
|
|
|
NC_000003.11:g.(?_182754986)_(182775230_?)del
|
|
|
|
NC_000003.11:g.(?_182756794)_(182763348_?)del
|
|
|
|
NC_000003.11:g.(?_182763181)_(182810353_?)dup
|
|
|
|
NC_000003.11:g.(?_182769927)_(182817228_?)del
|
|
|
|
NC_000003.11:g.(?_182788836)_(182792878_?)del
|
|
|
|
NC_000003.11:g.(?_182790144)_(182817385_?)del
|
|
|
|
NC_000003.11:g.(?_182810187)_(182812403_?)del
|
|
|
|
NC_000003.11:g.(?_182817140)_(182817228_?)del
|
|
|
|
NC_000003.12:g.(?_136250366)_(136250568_?)del
|
|
|
|
NC_000003.12:g.(?_136316921)_(136317084_?)del
|
|
|
|
NC_000003.12:g.(?_15601831)_(15601914_?)del
|
|
|
|
NC_000003.12:g.(?_183052139)_(183052260_?)del
|
|
|
|
NC_000003.12:g.(?_183070989)_(183072497_?)del
|
|
|
|
NC_000003.12:g.(?_183092389)_(183092565_?)del
|
|
|
|
NC_000003.12:g.(?_183092399)_(183094615_?)dup
|
|
|
|
NC_000003.12:g.183057423del
|
|
|
|
NC_000004.11:g.(?_146560292)_(149358012_?)del
|
|
|
|
NC_000004.11:g.(?_146575136)_(146576596_?)del
|
|
|
|
NC_000004.12:g.(?_145639120)_(145642505_?)del
|
|
|
|
NC_000005.10:g.(?_71587406)_(71656880_?)del
|
|
|
|
NC_000005.10:g.(?_71599649)_(71599770_?)del
|
|
|
|
NC_000005.10:g.(?_71626620)_(71649273_?)del
|
|
|
|
NC_000005.9:g.(?_70808992)_(70952687_?)dup
|
|
|
|
NC_000005.9:g.(?_70883253)_(70883401_?)del
|
|
|
|
NC_000005.9:g.(?_70888733)_(70895607_?)del
|
|
|
|
NC_000005.9:g.(?_70892087)_(70892211_?)del
|
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|
|
NC_000005.9:g.(?_70892097)_(70892201_?)del
|
|
|
|
NC_000005.9:g.(?_70895466)_(70895607_?)del
|
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|
|
NC_000005.9:g.(?_70895466)_(70900315_?)del
|
|
|
|
NC_000005.9:g.(?_70895466)_(70900315_?)dup
|
|
|
|
NC_000005.9:g.(?_70895476)_(70900305_?)dup
|
|
|
|
NC_000005.9:g.(?_70898323)_(70900305_?)del
|
|
|
|
NC_000005.9:g.(?_70898323)_(70928022_?)del
|
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|
|
NC_000005.9:g.(?_70922447)_(70952687_?)del
|
|
|
|
NC_000005.9:g.(?_70922457)_(70922590_?)del
|
|
|
|
NC_000005.9:g.(?_70927928)_(70931093_?)del
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|
|
NC_000005.9:g.(?_70930773)_(70930871_?)del
|
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|
|
NC_000005.9:g.(?_70936810)_(70936922_?)del
|
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|
|
NC_000005.9:g.(?_70939626)_(70948601_?)del
|
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|
|
NC_000006.11:g.(?_158532398)_(162868359_?)del
|
|
|
|
NC_000006.11:g.(?_49407899)_(49427199_?)dup
|
|
|
|
NC_000006.11:g.(?_70386050)_(70490466_?)dup
|
|
|
|
NC_000006.11:g.(?_70386050)_(71012627_?)del
|
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|
|
NC_000006.11:g.(?_70459213)_(70462268_?)del
|
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|
|
NC_000006.11:g.(?_70490366)_(70506773_?)dup
|
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|
|
NC_000006.12:g.(?_49447660)_(49459506_?)del
|
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|
|
NC_000006.12:g.(?_49456070)_(49456247_?)del
|
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|
|
NC_000006.12:g.69697707_69697708insTATCAGATTATCAGAAGTTATATTAGTCTGAAAGATAAAAATACAGTTAAAATATAAAAACCGCATTAATAAATACATTTGGATTTAAAAAGT
|
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|
|
NC_000006.12:g.69780555del
|
|
|
|
NC_000009.11:g.(?_94058283)_(94538120_?)dup
|
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|
|
NC_000009.11:g.(?_94118145)_(94118457_?)del
|
|
|
|
NC_000009.12:g.(?_91220785)_(91221012_?)del
|
|
|
|
NC_000009.12:g.91220993dup
|
rs781142774
|
|
|
NC_000010.10:g.(?_122842033)_(124813281_?)del
|
|
|
|
NC_000010.10:g.(?_124813200)_(124818000_?)del
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|
NC_000010.11:g.(?_123034356)_(123041379_?)del
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NC_000011.10:g.(?_108121597)_(108147400_?)del
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NC_000011.10:g.(?_108138888)_(108140225_?)del
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NC_000011.10:g.(?_72293347)_(72434494_?)del
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|
|
NC_000011.10:g.(?_72372905)_(72380404_?)del
|
|
|
|
NC_000011.10:g.134257112C>T
|
rs377629003
|
|
|
NC_000011.9:g.(?_107992324)_(107992415_?)del
|
|
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|
NC_000011.9:g.(?_107992334)_(108010962_?)del
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|
NC_000011.9:g.(?_107992334)_(108464263_?)dup
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NC_000011.9:g.(?_108002614)_(108005989_?)del
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NC_000011.9:g.(?_108002614)_(108009788_?)del
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NC_000011.9:g.(?_108004527)_(108005063_?)del
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NC_000011.9:g.(?_108004537)_(108005053_?)dup
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NC_000011.9:g.(?_108005849)_(108005989_?)del
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NC_000011.9:g.(?_108006357)_(108009701_?)del
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NC_000011.9:g.(?_108009605)_(108017106_?)del
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NC_000011.9:g.(?_108009615)_(108009778_?)del
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NC_000011.9:g.(?_108009615)_(108018127_?)del
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NC_000011.9:g.(?_108010782)_(108012437_?)del
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NC_000011.9:g.(?_108016909)_(108017106_?)del
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NC_000011.9:g.(?_108017977)_(108018117_?)del
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|
NC_000011.9:g.(?_133778964)_(134134854_?)del
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|
NC_000011.9:g.(?_71146421)_(75283128_?)dup
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|
NC_000011.9:g.(?_72004411)_(72006712_?)del
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|
NC_000011.9:g.(?_72083949)_(72084078_?)del
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|
NC_000011.9:g.(?_72083996)_(72087051_?)del
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|
NC_000011.9:g.(?_72141336)_(72145518_?)dup
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|
NC_000011.9:g.(?_72145096)_(72145518_?)del
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|
NC_000011.9:g.(?_72145398)_(72145517_?)del
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|
NC_000011.9:g.(?_72145398)_(72150823_?)del
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|
NC_000012.11:g.(?_109991510)_(109994951_?)del
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|
NC_000012.11:g.(?_110002904)_(110003001_?)del
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|
NC_000012.11:g.(?_110009434)_(110009535_?)dup
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|
NC_000012.11:g.(?_110009444)_(110012715_?)del
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|
NC_000012.11:g.(?_110011228)_(110017709_?)del
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|
NC_000012.12:g.(?_109561020)_(109565196_?)del
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|
NC_000013.10:g.(?_100038233)_(103718599_?)dup
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|
NC_000013.10:g.(?_100741259)_(100741489_?)del
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|
NC_000013.10:g.(?_100741375)_(101182420_?)del
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|
NC_000013.10:g.(?_100807213)_(100809614_?)dup
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|
NC_000013.10:g.(?_100807223)_(100809604_?)del
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|
NC_000013.10:g.(?_100807223)_(100962172_?)dup
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|
NC_000013.10:g.(?_100861566)_(100861737_?)del
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|
NC_000013.10:g.(?_100861566)_(100962182_?)del
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|
NC_000013.10:g.(?_100861566)_(101020848_?)del
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NC_000013.10:g.(?_100861576)_(100955262_?)del
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NC_000013.10:g.(?_100888076)_(100888152_?)del
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|
NC_000013.10:g.(?_100888076)_(101020848_?)del
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|
NC_000013.10:g.(?_100888086)_(100992523_?)del
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|
NC_000013.10:g.(?_100909829)_(100909947_?)del
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|
NC_000013.10:g.(?_100909829)_(101020848_?)del
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|
NC_000013.10:g.(?_100909829)_(101101579_?)del
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|
NC_000013.10:g.(?_100909839)_(100992523_?)del
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NC_000013.10:g.(?_100920933)_(100925610_?)del
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NC_000013.10:g.(?_100925430)_(100925620_?)del
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|
NC_000013.10:g.(?_100953694)_(100962182_?)del
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|
NC_000013.10:g.(?_100953694)_(100962182_?)dup
|
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|
NC_000013.10:g.(?_100953694)_(100992533_?)del
|
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|
NC_000013.10:g.(?_100953694)_(101078005_?)del
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NC_000013.10:g.(?_100953694)_(101101579_?)del
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|
NC_000013.10:g.(?_100953704)_(100962172_?)dup
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|
NC_000013.10:g.(?_100962067)_(100992533_?)del
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|
NC_000013.10:g.(?_100971208)_(100992469_?)del
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|
NC_000013.10:g.(?_100982805)_(101020838_?)dup
|
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|
NC_000013.10:g.(?_100992391)_(100992533_?)del
|
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|
NC_000013.10:g.(?_101020706)_(101020848_?)del
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|
NC_000013.10:g.(?_101020716)_(101101569_?)del
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|
NC_000013.10:g.(?_101077867)_(101101579_?)dup
|
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|
NC_000013.10:g.(?_101077867)_(101182420_?)dup
|
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|
NC_000013.10:g.(?_101077867)_(101182440_?)dup
|
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|
|
NC_000013.10:g.(?_101101486)_(101101579_?)del
|
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|
|
NC_000013.10:g.(?_101101486)_(101101579_?)dup
|
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|
NC_000013.10:g.(?_101167661)_(101167841_?)del
|
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|
NC_000013.10:g.(?_101167671)_(101182701_?)del
|
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|
NC_000013.10:g.(?_101179909)_(101180026_?)del
|
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|
NC_000013.10:g.(?_101179909)_(101182420_?)del
|
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|
NC_000013.11:g.(?_100111821)_(100112081_?)del
|
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|
|
NC_000013.11:g.(?_100111831)_(100112071_?)del
|
|
|
|
NC_000013.11:g.(?_100154969)_(100273356_?)del
|
|
|
|
NC_000013.11:g.(?_100209322)_(100235888_?)del
|
|
|
|
NC_000013.11:g.(?_100268679)_(100268793_?)del
|
|
|
|
NC_000013.11:g.(?_100301450)_(100425741_?)del
|
|
|
|
NC_000013.11:g.(?_100301460)_(100425731_?)del
|
|
|
|
NC_000013.11:g.(?_100330541)_(100368594_?)del
|
|
|
|
NC_000013.11:g.(?_100425613)_(100425751_?)del
|
|
|
|
NC_000013.11:g.(?_100449242)_(100491683_?)del
|
|
|
|
NC_000013.11:g.(?_100527655)_(100530186_?)del
|
|
|
|
NC_000013.11:g.(?_100527665)_(100530447_?)del
|
|
|
|
NC_000014.8:g.(?_74766231)_(74769615_?)del
|
|
|
|
NC_000015.10:g.(?_40412971)_(40418283_?)del
|
|
|
|
NC_000015.10:g.(?_40413063)_(40414126_?)del
|
|
|
|
NC_000015.10:g.(?_40416058)_(40418283_?)del
|
|
|
|
NC_000015.10:g.(?_40416068)_(40418273_?)del
|
|
|
|
NC_000015.9:g.(?_40698000)_(40700209_?)del
|
|
|
|
NC_000015.9:g.(?_40698010)_(40698182_?)del
|
|
|
|
NC_000015.9:g.(?_40698010)_(40710472_?)del
|
|
|
|
NC_000015.9:g.(?_40698020)_(40700209_?)del
|
|
|
|
NC_000015.9:g.(?_40699827)_(40710472_?)del
|
|
|
|
NC_000015.9:g.(?_40702817)_(40708571_?)del
|
|
|
|
NC_000015.9:g.(?_40710309)_(40710462_?)del
|
|
|
|
NC_000016.10:g.(?_89100662)_(89154227_?)dup
|
|
|
|
NC_000016.10:g.89100703_89111915del
|
|
|
|
NC_000016.10:g.89112092del
|
rs750594210
|
|
|
NC_000016.9:g.(?_89160207)_(89203247_?)del
|
|
|
|
NC_000016.9:g.(?_89160207)_(89212467_?)del
|
|
|
|
NC_000016.9:g.(?_89164989)_(89222264_?)del
|
|
|
|
NC_000016.9:g.(?_89167070)_(89180915_?)del
|
|
|
|
NC_000016.9:g.(?_89167070)_(89187341_?)dup
|
|
|
|
NC_000016.9:g.(?_89167090)_(89169187_?)del
|
|
|
|
NC_000016.9:g.(?_89167090)_(89187341_?)del
|
|
|
|
NC_000016.9:g.(?_89167090)_(89187341_?)dup
|
|
|
|
NC_000016.9:g.(?_89167090)_(89212477_?)del
|
|
|
|
NC_000016.9:g.(?_89167090)_(89220615_?)del
|
|
|
|
NC_000016.9:g.(?_89167109)_(89178321_?)del
|
|
|
|
NC_000016.9:g.(?_89167111)_(89178323_?)del
|
|
|
|
NC_000016.9:g.(?_89178490)_(89199680_?)dup
|
|
|
|
NC_000016.9:g.(?_89178490)_(89207694_?)del
|
|
|
|
NC_000016.9:g.(?_89178490)_(89212467_?)dup
|
|
|
|
NC_000016.9:g.(?_89178490)_(89222264_?)del
|
|
|
|
NC_000016.9:g.(?_89180727)_(89199690_?)del
|
|
|
|
NC_000016.9:g.(?_89183388)_(89187331_?)del
|
|
|
|
NC_000016.9:g.(?_89187199)_(89222264_?)del
|
|
|
|
NC_000016.9:g.(?_89199534)_(89199680_?)del
|
|
|
|
NC_000016.9:g.(?_89199534)_(89222264_?)del
|
|
|
|
NC_000016.9:g.(?_89211655)_(89212477_?)del
|
|
|
|
NC_000016.9:g.(?_89211655)_(89220615_?)dup
|
|
|
|
NC_000016.9:g.(?_89220488)_(89222264_?)del
|
|
|
|
NC_000019.10:g.(?_45584613)_(45584774_?)del
|
|
|
|
NC_000019.10:g.45529185C>T
|
rs566450630
|
|
|
NC_000019.9:g.(?_46056772)_(46057189_?)del
|
|
|
|
NC_000019.9:g.(?_46056772)_(46088022_?)del
|
|
|
|
NC_000021.8:g.(?_37133458)_(38311203_?)dup
|
|
|
|
NC_000021.8:g.(?_37707582)_(38139606_?)del
|
|
|
|
NC_000021.8:g.(?_38126547)_(38139606_?)del
|
|
|
|
NC_000021.8:g.(?_38128823)_(38139606_?)del
|
|
|
|
NC_000021.8:g.(?_38132018)_(38362704_?)del
|
|
|
|
NC_000021.8:g.(?_38269140)_(38269451_?)del
|
|
|
|
NC_000021.8:g.(?_38269140)_(38311203_?)del
|
|
|
|
NC_000021.8:g.(?_38269150)_(38269441_?)del
|
|
|
|
NC_000021.8:g.(?_38302531)_(38302753_?)del
|
|
|
|
NC_000021.8:g.(?_38302541)_(38311304_?)del
|
|
|
|
NC_000021.9:g.(?_36765002)_(36767295_?)del
|
|
|
|
NC_000021.9:g.(?_36930231)_(36930453_?)dup
|
|
|
|
NC_000021.9:g.(?_36938822)_(36939004_?)del
|
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
|
NC_000023.10:g.(?_152954030)_(154005142_?)del
|
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
|
NC_000023.10:g.(?_153592370)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)dup
|
|
|
|
NC_000023.10:g.(?_153640181)_(153642547_?)dup
|
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153641545)_(153648084_?)dup
|
|
|
|
NC_000023.10:g.(?_153647862)_(153649343_?)dup
|
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
|
NM_000019.4(ACAT1):c.1005+11A>C
|
|
|
|
NM_000019.4(ACAT1):c.1005+11A>T
|
|
|
|
NM_000019.4(ACAT1):c.1005+19G>A
|
rs1239413602
|
|
|
NM_000019.4(ACAT1):c.1005+19G>T
|
|
|
|
NM_000019.4(ACAT1):c.1005+1G>A
|
rs2134780623
|
|
|
NM_000019.4(ACAT1):c.1005+20C>T
|
|
|
|
NM_000019.4(ACAT1):c.1005+20dup
|
|
|
|
NM_000019.4(ACAT1):c.1006-15T>C
|
|
|
|
NM_000019.4(ACAT1):c.1006-16T>C
|
|
|
|
NM_000019.4(ACAT1):c.1006-17C>A
|
|
|
|
NM_000019.4(ACAT1):c.1006-18T>A
|
|
|
|
NM_000019.4(ACAT1):c.1006-18T>C
|
|
|
|
NM_000019.4(ACAT1):c.1006-19G>A
|
|
|
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
|
NM_000019.4(ACAT1):c.1006-21C>A
|
|
|
|
NM_000019.4(ACAT1):c.1006-4T>G
|
|
|
|
NM_000019.4(ACAT1):c.1006-7A>T
|
|
|
|
NM_000019.4(ACAT1):c.1006-8A>C
|
|
|
|
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
|
|
|
|
NM_000019.4(ACAT1):c.1020G>A (p.Val340=)
|
rs2077705283
|
|
|
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=)
|
|
|
|
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=)
|
|
|
|
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=)
|
|
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
|
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)
|
rs1565297723
|
|
|
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)
|
rs781496140
|
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
|
|
NM_000019.4(ACAT1):c.1044A>C (p.Ala348=)
|
rs2134791187
|
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
|
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)
|
|
|
|
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)
|
|
|
|
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=)
|
rs1591374629
|
|
|
NM_000019.4(ACAT1):c.1077T>G (p.Val359=)
|
|
|
|
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
|
|
|
|
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=)
|
|
|
|
NM_000019.4(ACAT1):c.1086A>G (p.Ala362=)
|
|
|
|
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=)
|
|
|
|
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
|
|
|
|
NM_000019.4(ACAT1):c.10C>T (p.Leu4=)
|
|
|
|
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
|
rs2134791556
|
|
|
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)
|
rs1591374695
|
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
|
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)
|
|
|
|
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)
|
rs2134791703
|
|
|
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=)
|
|
|
|
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
|
rs928429664
|
|
|
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs)
|
rs2134791752
|
|
|
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
|
rs751682437
|
|
|
NM_000019.4(ACAT1):c.1134A>G (p.Gly378=)
|
rs2134791835
|
|
|
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
|
|
|
|
NM_000019.4(ACAT1):c.1163+11A>G
|
|
|
|
NM_000019.4(ACAT1):c.1163+14A>G
|
|
|
|
NM_000019.4(ACAT1):c.1163+15_1163+17del
|
rs748465398
|
|
|
NM_000019.4(ACAT1):c.1163+16_1163+18del
|
|
|
|
NM_000019.4(ACAT1):c.1163+18C>T
|
|
|
|
NM_000019.4(ACAT1):c.1163+19T>G
|
|
|
|
NM_000019.4(ACAT1):c.1163+20A>C
|
|
|
|
NM_000019.4(ACAT1):c.1163+20A>G
|
|
|
|
NM_000019.4(ACAT1):c.1164-11C>T
|
|
|
|
NM_000019.4(ACAT1):c.1164-17T>C
|
|
|
|
NM_000019.4(ACAT1):c.1164-4T>C
|
|
|
|
NM_000019.4(ACAT1):c.1164-4T>G
|
|
|
|
NM_000019.4(ACAT1):c.1164-7A>C
|
|
|
|
NM_000019.4(ACAT1):c.1164-8_1164-4dup
|
|
|
|
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)
|
rs377295639
|
|
|
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
|
rs1565298653
|
|
|
NM_000019.4(ACAT1):c.1176C>G (p.Ala392=)
|
|
|
|
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=)
|
|
|
|
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
|
rs2077737059
|
|
|
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
|
|
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
|
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
|
rs2134797745
|
|
|
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=)
|
|
|
|
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
|
|
|
|
NM_000019.4(ACAT1):c.11T>C (p.Leu4Pro)
|
|
|
|
NM_000019.4(ACAT1):c.120+17G>A
|
|
|
|
NM_000019.4(ACAT1):c.120+1G>A
|
|
|
|
NM_000019.4(ACAT1):c.120+1G>T
|
rs779908220
|
|
|
NM_000019.4(ACAT1):c.120+20C>G
|
|
|
|
NM_000019.4(ACAT1):c.120+20C>T
|
|
|
|
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=)
|
|
|
|
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=)
|
|
|
|
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=)
|
|
|
|
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
|
|
|
|
NM_000019.4(ACAT1):c.121-12G>A
|
|
|
|
NM_000019.4(ACAT1):c.121-19C>T
|
|
|
|
NM_000019.4(ACAT1):c.121-2A>G
|
rs2135334384
|
|
|
NM_000019.4(ACAT1):c.121-3C>G
|
rs1591361919
|
|
|
NM_000019.4(ACAT1):c.121-8C>T
|
|
|
|
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)
|
|
|
|
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)
|
|
|
|
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
|
|
|
|
NM_000019.4(ACAT1):c.1224T>C (p.Gly408=)
|
rs1218523313
|
|
|
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=)
|
|
|
|
NM_000019.4(ACAT1):c.1233T>C (p.Ser411=)
|
rs2077740550
|
|
|
NM_000019.4(ACAT1):c.1239C>T (p.Cys413=)
|
rs2134798301
|
|
|
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp)
|
rs2134798319
|
|
|
NM_000019.4(ACAT1):c.1245A>G (p.Gly415=)
|
|
|
|
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=)
|
|
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
|
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
|
rs2077741217
|
|
|
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)
|
|
|
|
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
|
|
|
|
NM_000019.4(ACAT1):c.126G>A (p.Val42=)
|
|
|
|
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
|
rs2135334412
|
|
|
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=)
|
|
|
|
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=)
|
|
|
|
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=)
|
rs201500937
|
|
|
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
|
|
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
|
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
|
rs545826042
|
|
|
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
|
|
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
|
NM_000019.4(ACAT1):c.15G>T (p.Ala5=)
|
|
|
|
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)
|
|
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
|
NM_000019.4(ACAT1):c.170del (p.Gly57fs)
|
|
|
|
NM_000019.4(ACAT1):c.174C>T (p.Ser58=)
|
rs147018814
|
|
|
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
|
rs2135334620
|
|
|
NM_000019.4(ACAT1):c.180C>G (p.Ser60=)
|
rs1246350270
|
|
|
NM_000019.4(ACAT1):c.189A>C (p.Pro63=)
|
|
|
|
NM_000019.4(ACAT1):c.18A>G (p.Ala6=)
|
|
|
|
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
|
rs2135334679
|
|
|
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)
|
|
|
|
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
|
|
|
|
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val)
|
rs794727475
|
|
|
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
|
|
|
|
NM_000019.4(ACAT1):c.213A>C (p.Ala71=)
|
|
|
|
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)
|
|
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
|
NM_000019.4(ACAT1):c.21T>G (p.Leu7=)
|
|
|
|
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
|
rs2077411287
|
|
|
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
|
rs2135334849
|
|
|
NM_000019.4(ACAT1):c.234G>A (p.Lys78=)
|
|
|
|
NM_000019.4(ACAT1):c.238+11A>G
|
|
|
|
NM_000019.4(ACAT1):c.238+13T>C
|
|
|
|
NM_000019.4(ACAT1):c.238+20T>C
|
|
|
|
NM_000019.4(ACAT1):c.238+20T>G
|
|
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
|
NM_000019.4(ACAT1):c.238+8G>T
|
rs2135334879
|
|
|
NM_000019.4(ACAT1):c.239-10_239-8del
|
|
|
|
NM_000019.4(ACAT1):c.239-11_239-8del
|
|
|
|
NM_000019.4(ACAT1):c.239-13T>G
|
|
|
|
NM_000019.4(ACAT1):c.239-17_239-16insC
|
|
|
|
NM_000019.4(ACAT1):c.239-6dup
|
rs2077417137
|
|
|
NM_000019.4(ACAT1):c.239-8del
|
rs201199156
|
|
|
NM_000019.4(ACAT1):c.239-9_239-8del
|
rs201199156
|
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
|
NM_000019.4(ACAT1):c.24G>T (p.Leu8=)
|
|
|
|
NM_000019.4(ACAT1):c.252del (p.Glu85fs)
|
rs2135336077
|
|
|
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu)
|
rs1235436246
|
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
|
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
|
rs1406647087
|
|
|
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
|
rs1380608828
|
|
|
NM_000019.4(ACAT1):c.272del (p.Met91fs)
|
|
|
|
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)
|
rs1591362402
|
|
|
NM_000019.4(ACAT1):c.27C>T (p.Arg9=)
|
rs1437592865
|
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
|
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
|
rs746216662
|
|
|
NM_000019.4(ACAT1):c.291A>G (p.Gly97=)
|
|
|
|
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)
|
rs120074142
|
|
|
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)
|
|
|
|
NM_000019.4(ACAT1):c.303A>G (p.Gln101=)
|
|
|
|
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
|
rs2135336378
|
|
|
NM_000019.4(ACAT1):c.315G>A (p.Arg105=)
|
|
|
|
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter)
|
rs2135336400
|
|
|
NM_000019.4(ACAT1):c.318G>A (p.Gln106=)
|
|
|
|
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
|
|
|
|
NM_000019.4(ACAT1):c.321A>T (p.Ala107=)
|
|
|
|
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
|
|
|
|
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
|
rs2135336464
|
|
|
NM_000019.4(ACAT1):c.330dup (p.Ala111fs)
|
|
|
|
NM_000019.4(ACAT1):c.333A>G (p.Ala111=)
|
rs2135336477
|
|
|
NM_000019.4(ACAT1):c.334+16T>C
|
|
|
|
NM_000019.4(ACAT1):c.334+18_334+19del
|
|
|
|
NM_000019.4(ACAT1):c.334+19T>G
|
|
|
|
NM_000019.4(ACAT1):c.334+2T>A
|
|
|
|
NM_000019.4(ACAT1):c.334+8G>A
|
rs1336705723
|
|
|
NM_000019.4(ACAT1):c.335-12T>C
|
|
|
|
NM_000019.4(ACAT1):c.335-16C>T
|
|
|
|
NM_000019.4(ACAT1):c.335-19T>C
|
|
|
|
NM_000019.4(ACAT1):c.335-20G>A
|
|
|
|
NM_000019.4(ACAT1):c.335-20G>C
|
|
|
|
NM_000019.4(ACAT1):c.335-2A>G
|
|
|
|
NM_000019.4(ACAT1):c.335-3del
|
|
|
|
NM_000019.4(ACAT1):c.335-4T>G
|
|
|
|
NM_000019.4(ACAT1):c.33C>T (p.Gly11=)
|
|
|
|
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
|
|
|
|
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
|
|
|
|
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
|
rs2135341517
|
|
|
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
|
rs1333520451
|
|
|
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
|
rs1333520451
|
|
|
NM_000019.4(ACAT1):c.372dup (p.Val125fs)
|
|
|
|
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
|
rs767382364
|
|
|
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)
|
|
|
|
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs)
|
rs2135341631
|
|
|
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer)
|
|
|
|
NM_000019.4(ACAT1):c.384A>C (p.Ser128=)
|
|
|
|
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
|
|
|
|
NM_000019.4(ACAT1):c.399C>T (p.Ile133=)
|
rs2135341722
|
|
|
NM_000019.4(ACAT1):c.39C>A (p.Arg13=)
|
|
|
|
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
|
|
|
|
NM_000019.4(ACAT1):c.408C>A (p.Ala136=)
|
|
|
|
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)
|
|
|
|
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)
|
rs1591363800
|
|
|
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
|
rs2077446791
|
|
|
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
|
rs1436280151
|
|
|
NM_000019.4(ACAT1):c.435+11C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+12C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+13G>A
|
|
|
|
NM_000019.4(ACAT1):c.435+19C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+1G>A
|
rs1591363834
|
|
|
NM_000019.4(ACAT1):c.435+20C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+4A>G
|
rs1424341036
|
|
|
NM_000019.4(ACAT1):c.436-12G>A
|
|
|
|
NM_000019.4(ACAT1):c.436-13T>C
|
|
|
|
NM_000019.4(ACAT1):c.436-14G>A
|
|
|
|
NM_000019.4(ACAT1):c.436-15G>A
|
|
|
|
NM_000019.4(ACAT1):c.436-4G>A
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.436-8C>T
|
rs2135355544
|
|
|
NM_000019.4(ACAT1):c.447G>A (p.Val149=)
|
|
|
|
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)
|
|
|
|
NM_000019.4(ACAT1):c.45C>T (p.Arg15=)
|
rs2135283693
|
|
|
NM_000019.4(ACAT1):c.474T>C (p.Asn158=)
|
|
|
|
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
|
|
|
|
NM_000019.4(ACAT1):c.477T>C (p.Val159=)
|
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
|
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)
|
|
|
|
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)
|
rs2135356039
|
|
|
NM_000019.4(ACAT1):c.492C>T (p.Asn164=)
|
rs2135356062
|
|
|
NM_000019.4(ACAT1):c.49C>G (p.Pro17Ala)
|
|
|
|
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
|
|
|
|
NM_000019.4(ACAT1):c.507A>T (p.Pro169=)
|
rs201456540
|
|
|
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=)
|
|
|
|
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
|
rs1388288534
|
|
|
NM_000019.4(ACAT1):c.51C>A (p.Pro17=)
|
|
|
|
NM_000019.4(ACAT1):c.51C>G (p.Pro17=)
|
rs765733417
|
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
|
NM_000019.4(ACAT1):c.531T>C (p.Asp177=)
|
|
|
|
NM_000019.4(ACAT1):c.537T>C (p.Ile179=)
|
|
|
|
NM_000019.4(ACAT1):c.537del (p.Ile179fs)
|
rs1415293773
|
|
|
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)
|
|
|
|
NM_000019.4(ACAT1):c.549G>A (p.Gly183=)
|
|
|
|
NM_000019.4(ACAT1):c.550C>T (p.Leu184=)
|
rs2135356370
|
|
|
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs)
|
|
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
|
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)
|
rs541517496
|
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
|
NM_000019.4(ACAT1):c.579+17G>T
|
|
|
|
NM_000019.4(ACAT1):c.579+2T>A
|
rs112950994
|
|
|
NM_000019.4(ACAT1):c.579+7G>A
|
|
|
|
NM_000019.4(ACAT1):c.579+8T>C
|
|
|
|
NM_000019.4(ACAT1):c.57C>A (p.Leu19=)
|
rs540416798
|
|
|
NM_000019.4(ACAT1):c.57C>T (p.Leu19=)
|
rs540416798
|
|
|
NM_000019.4(ACAT1):c.580-12A>C
|
|
|
|
NM_000019.4(ACAT1):c.580-14C>A
|
|
|
|
NM_000019.4(ACAT1):c.580-5dup
|
rs2134760866
|
|
|
NM_000019.4(ACAT1):c.580-7T>C
|
rs565210496
|
|
|
NM_000019.4(ACAT1):c.580-8T>C
|
|
|
|
NM_000019.4(ACAT1):c.580-93_626del
|
|
|
|
NM_000019.4(ACAT1):c.588T>C (p.Cys196=)
|
|
|
|
NM_000019.4(ACAT1):c.603A>G (p.Ala201=)
|
rs1591368730
|
|
|
NM_000019.4(ACAT1):c.609G>A (p.Lys203=)
|
|
|
|
NM_000019.4(ACAT1):c.615T>C (p.Asn205=)
|
|
|
|
NM_000019.4(ACAT1):c.619del (p.Ala207fs)
|
|
|
|
NM_000019.4(ACAT1):c.622C>A (p.Arg208=)
|
rs532190594
|
|
|
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)
|
rs532190594
|
|
|
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)
|
|
|
|
NM_000019.4(ACAT1):c.630A>G (p.Glu210=)
|
|
|
|
NM_000019.4(ACAT1):c.633G>A (p.Gln211=)
|
rs2134761170
|
|
|
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
|
rs761282960
|
|
|
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
|
rs761282960
|
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
|
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)
|
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
|
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)
|
rs1437567292
|
|
|
NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2134761257
|
|
|
NM_000019.4(ACAT1):c.657T>C (p.Tyr219=)
|
|
|
|
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
|
rs2134761387
|
|
|
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro)
|
rs2134761406
|
|
|
NM_000019.4(ACAT1):c.681A>G (p.Glu227=)
|
rs2134761453
|
|
|
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
|
rs2134761476
|
|
|
NM_000019.4(ACAT1):c.702A>G (p.Glu234=)
|
|
|
|
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
|
|
|
|
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
|
|
|
|
NM_000019.4(ACAT1):c.72+10G>A
|
|
|
|
NM_000019.4(ACAT1):c.72+10G>T
|
rs1324987267
|
|
|
NM_000019.4(ACAT1):c.72+15T>A
|
|
|
|
NM_000019.4(ACAT1):c.72+17C>T
|
|
|
|
NM_000019.4(ACAT1):c.72+19C>T
|
|
|
|
NM_000019.4(ACAT1):c.72+6C>A
|
|
|
|
NM_000019.4(ACAT1):c.72+8G>C
|
|
|
|
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
|
|
|
|
NM_000019.4(ACAT1):c.73-10T>C
|
|
|
|
NM_000019.4(ACAT1):c.73-10T>G
|
|
|
|
NM_000019.4(ACAT1):c.73-13A>G
|
|
|
|
NM_000019.4(ACAT1):c.73-16_73-13del
|
rs764584922
|
|
|
NM_000019.4(ACAT1):c.73-17_73-12del
|
|
|
|
NM_000019.4(ACAT1):c.73-18T>C
|
|
|
|
NM_000019.4(ACAT1):c.73-1G>A
|
|
|
|
NM_000019.4(ACAT1):c.73-20_73-18del
|
rs761134266
|
|
|
NM_000019.4(ACAT1):c.73-9A>G
|
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
|
NM_000019.4(ACAT1):c.730+6G>C
|
|
|
|
NM_000019.4(ACAT1):c.730+8T>G
|
rs1203808396
|
|
|
NM_000019.4(ACAT1):c.731-10_731-8del
|
|
|
|
NM_000019.4(ACAT1):c.731-17A>G
|
|
|
|
NM_000019.4(ACAT1):c.731-20T>C
|
|
|
|
NM_000019.4(ACAT1):c.731-20T>G
|
|
|
|
NM_000019.4(ACAT1):c.731-6T>C
|
rs574669264
|
|
|
NM_000019.4(ACAT1):c.732T>A (p.Gly244=)
|
rs2134768518
|
|
|
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)
|
rs2134768525
|
|
|
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
|
rs2134768546
|
|
|
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
|
|
|
|
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
|
|
|
|
NM_000019.4(ACAT1):c.747G>C (p.Val249=)
|
|
|
|
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)
|
|
|
|
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter)
|
rs2134768688
|
|
|
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
|
|
|
|
NM_000019.4(ACAT1):c.76dup (p.Ile26fs)
|
|
|
|
NM_000019.4(ACAT1):c.774T>G (p.Arg258=)
|
rs778592070
|
|
|
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
|
rs2134768842
|
|
|
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter)
|
rs2134768866
|
|
|
NM_000019.4(ACAT1):c.789del (p.Val264fs)
|
|
|
|
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
|
|
|
|
NM_000019.4(ACAT1):c.807A>G (p.Thr269=)
|
rs2134768930
|
|
|
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
|
rs768923639
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
|
NM_000019.4(ACAT1):c.826+10A>G
|
|
|
|
NM_000019.4(ACAT1):c.826+15A>G
|
|
|
|
NM_000019.4(ACAT1):c.826+16T>C
|
|
|
|
NM_000019.4(ACAT1):c.826+19A>C
|
|
|
|
NM_000019.4(ACAT1):c.826+20G>A
|
|
|
|
NM_000019.4(ACAT1):c.826+2T>C
|
rs2077590197
|
|
|
NM_000019.4(ACAT1):c.826+3_826+6del
|
|
|
|
NM_000019.4(ACAT1):c.826+7G>A
|
|
|
|
NM_000019.4(ACAT1):c.827-12T>G
|
rs2134772377
|
|
|
NM_000019.4(ACAT1):c.827-16T>A
|
|
|
|
NM_000019.4(ACAT1):c.827-16T>C
|
|
|
|
NM_000019.4(ACAT1):c.827-16_827-15del
|
|
|
|
NM_000019.4(ACAT1):c.827-17C>G
|
|
|
|
NM_000019.4(ACAT1):c.827-18C>A
|
|
|
|
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
|
rs2077608173
|
|
|
NM_000019.4(ACAT1):c.835del (p.Thr279fs)
|
|
|
|
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr)
|
rs1318357125
|
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
|
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
|
rs2134772561
|
|
|
NM_000019.4(ACAT1):c.846dup (p.Ala283fs)
|
rs2134772571
|
|
|
NM_000019.4(ACAT1):c.852T>C (p.Ser284=)
|
|
|
|
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
|
rs1239221388
|
|
|
NM_000019.4(ACAT1):c.855A>C (p.Thr285=)
|
|
|
|
NM_000019.4(ACAT1):c.855A>G (p.Thr285=)
|
|
|
|
NM_000019.4(ACAT1):c.858G>C (p.Leu286=)
|
|
|
|
NM_000019.4(ACAT1):c.861T>C (p.Asn287=)
|
|
|
|
NM_000019.4(ACAT1):c.867A>T (p.Gly289=)
|
|
|
|
NM_000019.4(ACAT1):c.869dup (p.Ala291fs)
|
|
|
|
NM_000019.4(ACAT1):c.876T>C (p.Ala292=)
|
|
|
|
NM_000019.4(ACAT1):c.879G>A (p.Leu293=)
|
|
|
|
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
|
|
|
|
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)
|
rs886041122
|
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
|
NM_000019.4(ACAT1):c.903G>T (p.Ala301=)
|
rs75811190
|
|
|
NM_000019.4(ACAT1):c.905del (p.Lys302fs)
|
rs398123097
|
|
|
NM_000019.4(ACAT1):c.912C>A (p.Leu304=)
|
|
|
|
NM_000019.4(ACAT1):c.915T>C (p.Asn305=)
|
rs2134773010
|
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
|
NM_000019.4(ACAT1):c.925C>T (p.Leu309=)
|
|
|
|
NM_000019.4(ACAT1):c.930A>G (p.Ala310=)
|
|
|
|
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
|
|
|
|
NM_000019.4(ACAT1):c.936A>T (p.Ile312=)
|
|
|
|
NM_000019.4(ACAT1):c.93G>A (p.Arg31=)
|
|
|
|
NM_000019.4(ACAT1):c.940+12C>A
|
|
|
|
NM_000019.4(ACAT1):c.940+12C>G
|
|
|
|
NM_000019.4(ACAT1):c.940+13G>A
|
|
|
|
NM_000019.4(ACAT1):c.940+14_940+18del
|
|
|
|
NM_000019.4(ACAT1):c.940+15G>A
|
|
|
|
NM_000019.4(ACAT1):c.940+15_940+25del
|
|
|
|
NM_000019.4(ACAT1):c.940+16_940+20del
|
rs2134773385
|
|
|
NM_000019.4(ACAT1):c.940+1G>T
|
rs1591371185
|
|
|
NM_000019.4(ACAT1):c.940+20C>G
|
|
|
|
NM_000019.4(ACAT1):c.940+2T>C
|
rs963023006
|
|
|
NM_000019.4(ACAT1):c.940+2dup
|
rs2134773243
|
|
|
NM_000019.4(ACAT1):c.940+7C>G
|
|
|
|
NM_000019.4(ACAT1):c.940G>C (p.Ala314Pro)
|
|
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
|
NM_000019.4(ACAT1):c.941-14_941-13del
|
|
|
|
NM_000019.4(ACAT1):c.941-15C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-15C>G
|
|
|
|
NM_000019.4(ACAT1):c.941-15C>T
|
rs759374737
|
|
|
NM_000019.4(ACAT1):c.941-16C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-16C>G
|
rs770980645
|
|
|
NM_000019.4(ACAT1):c.941-16C>T
|
|
|
|
NM_000019.4(ACAT1):c.941-16_941-15insA
|
|
|
|
NM_000019.4(ACAT1):c.941-17C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-17C>G
|
|
|
|
NM_000019.4(ACAT1):c.941-18C>G
|
|
|
|
NM_000019.4(ACAT1):c.941-18C>T
|
|
|
|
NM_000019.4(ACAT1):c.941-18_941-17insG
|
|
|
|
NM_000019.4(ACAT1):c.941-19C>T
|
|
|
|
NM_000019.4(ACAT1):c.941-20C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-7del
|
rs376661693
|
|
|
NM_000019.4(ACAT1):c.941-8T>C
|
|
|
|
NM_000019.4(ACAT1):c.952_983dup (p.Ala328_Pro329insLeuLeuTer)
|
|
|
|
NM_000019.4(ACAT1):c.960A>G (p.Val320=)
|
|
|
|
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs)
|
|
|
|
NM_000019.4(ACAT1):c.972T>C (p.Asp324=)
|
|
|
|
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
|
|
|
|
NM_000019.4(ACAT1):c.984T>A (p.Ala328=)
|
rs745826234
|
|
|
NM_000019.4(ACAT1):c.987T>C (p.Pro329=)
|
|
|
|
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)
|
rs2134780546
|
|
|
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=)
|
|
|
|
NM_000019.4(ACAT1):c.9G>A (p.Val3=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15del
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+20G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
|
NM_000116.5(TAFAZZIN):c.109+8G>A
|
rs2068315794
|
|
|
NM_000116.5(TAFAZZIN):c.110-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-19A>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-20G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
|
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.135C>T (p.His45=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.13G>A (p.Val5Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs)
|
rs1557191074
|
|
|
NM_000116.5(TAFAZZIN):c.150G>A (p.Leu50=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter)
|
rs794729166
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.177G>A (p.Pro59=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
|
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
|
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)
|
rs1557191148
|
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.223G>T (p.Asp75Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
|
NM_000116.5(TAFAZZIN):c.236_238+5del
|
rs2068331233
|
|
|
NM_000116.5(TAFAZZIN):c.238+10C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+14T>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+2_238+9del
|
rs1603376938
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
|
NM_000116.5(TAFAZZIN):c.238+7G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+9G>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.239-11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-16C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6del
|
rs1064794479
|
|
|
NM_000116.5(TAFAZZIN):c.239-7C>T
|
rs2148190472
|
|
|
NM_000116.5(TAFAZZIN):c.243C>G (p.Ile81Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
|
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.284+17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+8_284+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-19T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-5C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.293C>T (p.Ala98Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
|
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
|
rs2148191873
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)
|
rs1569552726
|
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
|
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.363G>A (p.Val121=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+16A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+19G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+8G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
|
NM_000116.5(TAFAZZIN):c.371-17T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-19A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-4G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.387A>G (p.Gln129=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.408T>G (p.Gly136=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.456G>A (p.Glu152=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
|
|
NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-13C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-14C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-22_461-14del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-3C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-9T>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
|
|
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
|
rs2148210856
|
|
|
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
|
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
|
|
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
|
|
|
|
NM_000116.5(TAFAZZIN):c.528_541+7del
|
rs2068570435
|
|
|
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+10G>A
|
rs1396794207
|
|
|
NM_000116.5(TAFAZZIN):c.541+13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+13_541+28del
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+16T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+3C>G
|
rs1557193865
|
|
|
NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
|
|
NM_000116.5(TAFAZZIN):c.541+8G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-10C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-2A>G
|
rs2068574381
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-9T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
|
|
NM_000116.5(TAFAZZIN):c.543G>C (p.Gly181=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=)
|
rs36005334
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His)
|
rs876661034
|
|
|
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.580_583+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
|
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
|
|
NM_000116.5(TAFAZZIN):c.584-10C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-11C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-1G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-8C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>A
|
rs2068583124
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.585A>T (p.Gly195=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.586A>G (p.Ile196Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
|
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.597G>C (p.Leu199=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)
|
rs782162647
|
|
|
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+12G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+13A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+20C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+5G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+8T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
|
NM_000116.5(TAFAZZIN):c.647-14C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.647-16G>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.647-9G>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
|
|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
|
|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=)
|
rs1603381820
|
|
|
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.696A>G (p.Gly232=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
|
NM_000116.5(TAFAZZIN):c.699+15C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+6T>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+6del
|
|
|
|
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-19C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.708T>C (p.Thr236=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.709G>A (p.Val237Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.717C>T (p.Ile239=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
|
NM_000116.5(TAFAZZIN):c.718G>T (p.Gly240Trp)
|
|
|
|
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
|
rs2148214484
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
|
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+18T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
|
NM_000116.5(TAFAZZIN):c.777+20C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
|
NM_000116.5(TAFAZZIN):c.778-17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.778-63_778-51del
|
rs782249471
|
|
|
NM_000116.5(TAFAZZIN):c.778-6C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.778-8del
|
|
|
|
NM_000116.5(TAFAZZIN):c.787C>T (p.Arg263Trp)
|
|
|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
|
NM_000116.5(TAFAZZIN):c.796C>G (p.Leu266Val)
|
rs1557194499
|
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
|
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.804del (p.Phe269fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.81G>T (p.Leu27Phe)
|
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.849G>A (p.Gln283=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
|
NM_000116.5(TAFAZZIN):c.84G>A (p.Val28=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.861C>T (p.His287=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=)
|
rs1603382441
|
|
|
NM_000116.5(TAFAZZIN):c.872G>A (p.Gly291Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
|
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.93C>T (p.Tyr31=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.98G>T (p.Cys33Phe)
|
|
|
|
NM_000191.3(HMGCL):c.102A>G (p.Lys34=)
|
|
|
|
NM_000191.3(HMGCL):c.108G>C (p.Val36=)
|
|
|
|
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
|
|
|
|
NM_000191.3(HMGCL):c.121C>A (p.Arg41=)
|
|
|
|
NM_000191.3(HMGCL):c.123A>T (p.Arg41=)
|
rs2148425859
|
|
|
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
|
|
|
|
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
|
|
|
|
NM_000191.3(HMGCL):c.130C>T (p.Leu44=)
|
|
|
|
NM_000191.3(HMGCL):c.133C>T (p.Gln45Ter)
|
rs2148425853
|
|
|
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)
|
rs1638698938
|
|
|
NM_000191.3(HMGCL):c.144+15G>T
|
|
|
|
NM_000191.3(HMGCL):c.144+16A>G
|
|
|
|
NM_000191.3(HMGCL):c.144+18C>G
|
|
|
|
NM_000191.3(HMGCL):c.144+20A>C
|
|
|
|
NM_000191.3(HMGCL):c.144+2T>C
|
rs1001955490
|
|
|
NM_000191.3(HMGCL):c.144+4A>G
|
|
|
|
NM_000191.3(HMGCL):c.144+8T>G
|
rs2148425829
|
|
|
NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn)
|
|
|
|
NM_000191.3(HMGCL):c.145-11C>G
|
|
|
|
NM_000191.3(HMGCL):c.145-16TC[3]
|
rs2148424266
|
|
|
NM_000191.3(HMGCL):c.145-19G>A
|
|
|
|
NM_000191.3(HMGCL):c.145-1G>C
|
|
|
|
NM_000191.3(HMGCL):c.145-5T>A
|
|
|
|
NM_000191.3(HMGCL):c.145-6C>T
|
rs2148424258
|
|
|
NM_000191.3(HMGCL):c.145-7A>C
|
|
|
|
NM_000191.3(HMGCL):c.145-7A>G
|
|
|
|
NM_000191.3(HMGCL):c.145-9C>T
|
|
|
|
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
|
|
|
|
NM_000191.3(HMGCL):c.150C>A (p.Ile50=)
|
rs376705029
|
|
|
NM_000191.3(HMGCL):c.153A>G (p.Val51=)
|
|
|
|
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
|
|
|
|
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
|
|
|
|
NM_000191.3(HMGCL):c.171C>T (p.Ile57=)
|
rs2148424231
|
|
|
NM_000191.3(HMGCL):c.174G>A (p.Lys58=)
|
rs2148424227
|
|
|
NM_000191.3(HMGCL):c.177G>T (p.Leu59=)
|
rs1375512664
|
|
|
NM_000191.3(HMGCL):c.178_187del (p.Ile60fs)
|
|
|
|
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
|
|
|
|
NM_000191.3(HMGCL):c.183C>T (p.Asp61=)
|
rs755922538
|
|
|
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu)
|
rs373738626
|
|
|
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
|
|
|
|
NM_000191.3(HMGCL):c.189T>C (p.Leu63=)
|
|
|
|
NM_000191.3(HMGCL):c.195A>G (p.Glu65=)
|
rs2148424193
|
|
|
NM_000191.3(HMGCL):c.201A>G (p.Gly67=)
|
|
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
|
NM_000191.3(HMGCL):c.208_209del (p.Val70fs)
|
rs2148424175
|
|
|
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.218C>A (p.Thr73Asn)
|
rs1570652345
|
|
|
NM_000191.3(HMGCL):c.21G>A (p.Ala7=)
|
rs751528960
|
|
|
NM_000191.3(HMGCL):c.21G>T (p.Ala7=)
|
|
|
|
NM_000191.3(HMGCL):c.225C>T (p.Ser75=)
|
rs1357942068
|
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
|
NM_000191.3(HMGCL):c.231G>A (p.Val77=)
|
|
|
|
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
|
|
|
|
NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter)
|
rs2148424154
|
|
|
NM_000191.3(HMGCL):c.24T>C (p.Leu8=)
|
rs2148428459
|
|
|
NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter)
|
|
|
|
NM_000191.3(HMGCL):c.252+10A>G
|
|
|
|
NM_000191.3(HMGCL):c.252+10A>T
|
rs1194729820
|
|
|
NM_000191.3(HMGCL):c.252+12C>A
|
|
|
|
NM_000191.3(HMGCL):c.252+14C>T
|
|
|
|
NM_000191.3(HMGCL):c.252+18A>G
|
|
|
|
NM_000191.3(HMGCL):c.252+19T>C
|
|
|
|
NM_000191.3(HMGCL):c.252+1G>A
|
rs775218067
|
|
|
NM_000191.3(HMGCL):c.252+1G>C
|
|
|
|
NM_000191.3(HMGCL):c.252+8C>G
|
|
|
|
NM_000191.3(HMGCL):c.253-18G>A
|
|
|
|
NM_000191.3(HMGCL):c.253-5C>T
|
|
|
|
NM_000191.3(HMGCL):c.253-7T>C
|
rs1391681111
|
|
|
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)
|
rs886046314
|
|
|
NM_000191.3(HMGCL):c.274T>C (p.Leu92=)
|
|
|
|
NM_000191.3(HMGCL):c.27G>C (p.Pro9=)
|
|
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
|
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
|
|
|
|
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr)
|
rs2148428492
|
|
|
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
|
rs1274176298
|
|
|
NM_000191.3(HMGCL):c.315C>G (p.Val105=)
|
|
|
|
NM_000191.3(HMGCL):c.319del (p.Thr107fs)
|
|
|
|
NM_000191.3(HMGCL):c.321C>A (p.Thr107=)
|
|
|
|
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser)
|
rs2148423771
|
|
|
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu)
|
rs1638619737
|
|
|
NM_000191.3(HMGCL):c.336C>A (p.Gly112=)
|
|
|
|
NM_000191.3(HMGCL):c.336C>G (p.Gly112=)
|
|
|
|
NM_000191.3(HMGCL):c.33A>G (p.Arg11=)
|
rs2148428444
|
|
|
NM_000191.3(HMGCL):c.33A>T (p.Arg11=)
|
|
|
|
NM_000191.3(HMGCL):c.348+13C>G
|
|
|
|
NM_000191.3(HMGCL):c.348+14T>G
|
|
|
|
NM_000191.3(HMGCL):c.348+17_348+19del
|
|
|
|
NM_000191.3(HMGCL):c.348+1G>A
|
rs1322650779
|
|
|
NM_000191.3(HMGCL):c.348+20G>A
|
|
|
|
NM_000191.3(HMGCL):c.348+7_348+9dup
|
|
|
|
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
|
|
|
|
NM_000191.3(HMGCL):c.349-10A>G
|
rs755304948
|
|
|
NM_000191.3(HMGCL):c.349-15C>T
|
|
|
|
NM_000191.3(HMGCL):c.349-17C>G
|
|
|
|
NM_000191.3(HMGCL):c.349-19T>A
|
|
|
|
NM_000191.3(HMGCL):c.349-4G>A
|
|
|
|
NM_000191.3(HMGCL):c.349-8G>T
|
rs770814366
|
|
|
NM_000191.3(HMGCL):c.349_361del
|
|
|
|
NM_000191.3(HMGCL):c.34C>T (p.Leu12=)
|
rs2148428443
|
|
|
NM_000191.3(HMGCL):c.357T>A (p.Ala119=)
|
rs2148422516
|
|
|
NM_000191.3(HMGCL):c.360A>T (p.Gly120=)
|
|
|
|
NM_000191.3(HMGCL):c.374_375del (p.Val125fs)
|
rs1638575413
|
|
|
NM_000191.3(HMGCL):c.378C>T (p.Ile126=)
|
rs2148422513
|
|
|
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
|
rs1244160232
|
|
|
NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer)
|
rs1638575128
|
|
|
NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs)
|
|
|
|
NM_000191.3(HMGCL):c.402C>T (p.Phe134=)
|
rs11551767
|
|
|
NM_000191.3(HMGCL):c.405C>G (p.Thr135=)
|
|
|
|
NM_000191.3(HMGCL):c.408G>A (p.Lys136=)
|
|
|
|
NM_000191.3(HMGCL):c.411G>A (p.Lys137=)
|
|
|
|
NM_000191.3(HMGCL):c.414C>T (p.Asn138=)
|
|
|
|
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
|
|
|
|
NM_000191.3(HMGCL):c.423T>C (p.Cys141=)
|
rs2148422474
|
|
|
NM_000191.3(HMGCL):c.42C>T (p.Gly14=)
|
rs1638799252
|
|
|
NM_000191.3(HMGCL):c.436A>G (p.Ser146Gly)
|
|
|
|
NM_000191.3(HMGCL):c.456A>G (p.Ala152=)
|
rs2148422453
|
|
|
NM_000191.3(HMGCL):c.460C>T (p.Leu154=)
|
rs2148422448
|
|
|
NM_000191.3(HMGCL):c.468A>G (p.Ala156=)
|
rs1017877874
|
|
|
NM_000191.3(HMGCL):c.471G>T (p.Ala157=)
|
|
|
|
NM_000191.3(HMGCL):c.477del (p.Ala160fs)
|
|
|
|
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
|
|
|
|
NM_000191.3(HMGCL):c.484dup (p.Ile162fs)
|
|
|
|
NM_000191.3(HMGCL):c.48G>C (p.Ala16=)
|
rs115611440
|
|
|
NM_000191.3(HMGCL):c.48_60+289del
|
|
|
|
NM_000191.3(HMGCL):c.497+10A>G
|
|
|
|
NM_000191.3(HMGCL):c.497+13A>G
|
|
|
|
NM_000191.3(HMGCL):c.497+1G>A
|
|
|
|
NM_000191.3(HMGCL):c.497+20T>A
|
|
|
|
NM_000191.3(HMGCL):c.497+3G>A
|
rs763178392
|
|
|
NM_000191.3(HMGCL):c.498-12G>A
|
|
|
|
NM_000191.3(HMGCL):c.498-12G>C
|
|
|
|
NM_000191.3(HMGCL):c.498-15C>T
|
|
|
|
NM_000191.3(HMGCL):c.498-16C>T
|
|
|
|
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)
|
rs200189529
|
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
|
NM_000191.3(HMGCL):c.513T>C (p.Ala171=)
|
|
|
|
NM_000191.3(HMGCL):c.519C>T (p.Gly173=)
|
|
|
|
NM_000191.3(HMGCL):c.51C>A (p.Ser17=)
|
|
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
|
NM_000191.3(HMGCL):c.534del (p.Lys179fs)
|
|
|
|
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met)
|
rs2148420690
|
|
|
NM_000191.3(HMGCL):c.545del (p.Pro182fs)
|
rs2148420687
|
|
|
NM_000191.3(HMGCL):c.54C>G (p.Leu18=)
|
|
|
|
NM_000191.3(HMGCL):c.54C>T (p.Leu18=)
|
|
|
|
NM_000191.3(HMGCL):c.558T>A (p.Ala186=)
|
rs1638505746
|
|
|
NM_000191.3(HMGCL):c.561+13G>A
|
rs755556712
|
|
|
NM_000191.3(HMGCL):c.561+15C>A
|
|
|
|
NM_000191.3(HMGCL):c.561+19G>A
|
rs1239783360
|
|
|
NM_000191.3(HMGCL):c.561+1G>T
|
|
|
|
NM_000191.3(HMGCL):c.561+20_561+23del
|
|
|
|
NM_000191.3(HMGCL):c.561+7G>C
|
|
|
|
NM_000191.3(HMGCL):c.561+9A>G
|
|
|
|
NM_000191.3(HMGCL):c.562-12T>C
|
|
|
|
NM_000191.3(HMGCL):c.562-14G>A
|
|
|
|
NM_000191.3(HMGCL):c.562-14G>C
|
rs751368427
|
|
|
NM_000191.3(HMGCL):c.562-16C>T
|
|
|
|
NM_000191.3(HMGCL):c.562-18G>A
|
|
|
|
NM_000191.3(HMGCL):c.562-1G>A
|
|
|
|
NM_000191.3(HMGCL):c.562-20G>C
|
|
|
|
NM_000191.3(HMGCL):c.562-2A>G
|
rs1553131955
|
|
|
NM_000191.3(HMGCL):c.562-8T>C
|
rs2148419215
|
|
|
NM_000191.3(HMGCL):c.564C>A (p.Val188=)
|
|
|
|
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
|
|
|
|
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
|
|
|
|
NM_000191.3(HMGCL):c.597G>A (p.Glu199=)
|
rs2148419180
|
|
|
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000191.3(HMGCL):c.60+10C>T
|
|
|
|
NM_000191.3(HMGCL):c.60+12G>T
|
|
|
|
NM_000191.3(HMGCL):c.60+1G>C
|
|
|
|
NM_000191.3(HMGCL):c.60+20G>A
|
|
|
|
NM_000191.3(HMGCL):c.60+6T>A
|
|
|
|
NM_000191.3(HMGCL):c.60+7G>C
|
|
|
|
NM_000191.3(HMGCL):c.60+7G>T
|
rs368461149
|
|
|
NM_000191.3(HMGCL):c.60+8C>A
|
|
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
|
NM_000191.3(HMGCL):c.60_60+18del
|
|
|
|
NM_000191.3(HMGCL):c.61-11T>C
|
|
|
|
NM_000191.3(HMGCL):c.61-13T>C
|
|
|
|
NM_000191.3(HMGCL):c.61-14C>T
|
|
|
|
NM_000191.3(HMGCL):c.61-16C>T
|
|
|
|
NM_000191.3(HMGCL):c.61-1G>C
|
rs1638701269
|
|
|
NM_000191.3(HMGCL):c.61-4A>G
|
|
|
|
NM_000191.3(HMGCL):c.610del (p.Asp204fs)
|
rs2148419170
|
|
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
|
|
NM_000191.3(HMGCL):c.621T>G (p.Gly207=)
|
rs1638449170
|
|
|
NM_000191.3(HMGCL):c.627C>A (p.Gly209=)
|
|
|
|
NM_000191.3(HMGCL):c.627C>T (p.Gly209=)
|
|
|
|
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)
|
rs1570645382
|
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
|
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
|
rs767993106
|
|
|
NM_000191.3(HMGCL):c.652C>T (p.Leu218=)
|
rs779813777
|
|
|
NM_000191.3(HMGCL):c.657T>C (p.Ser219=)
|
|
|
|
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile)
|
rs745624801
|
|
|
NM_000191.3(HMGCL):c.663C>G (p.Val221=)
|
rs143884026
|
|
|
NM_000191.3(HMGCL):c.675G>A (p.Val225=)
|
rs1266803426
|
|
|
NM_000191.3(HMGCL):c.675G>C (p.Val225=)
|
|
|
|
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
|
|
|
|
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp)
|
rs752913892
|
|
|
NM_000191.3(HMGCL):c.687C>A (p.Ala229=)
|
rs1638447338
|
|
|
NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del)
|
|
|
|
NM_000191.3(HMGCL):c.699C>T (p.His233=)
|
|
|
|
NM_000191.3(HMGCL):c.6A>T (p.Ala2=)
|
rs375969301
|
|
|
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
|
|
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
|
NM_000191.3(HMGCL):c.711C>G (p.Thr237=)
|
|
|
|
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
|
|
|
|
NM_000191.3(HMGCL):c.714T>C (p.Tyr238=)
|
|
|
|
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr)
|
rs763416473
|
|
|
NM_000191.3(HMGCL):c.724C>T (p.Leu242=)
|
|
|
|
NM_000191.3(HMGCL):c.724_725del (p.Leu242fs)
|
|
|
|
NM_000191.3(HMGCL):c.72A>C (p.Ser24=)
|
rs2148425901
|
|
|
NM_000191.3(HMGCL):c.72A>G (p.Ser24=)
|
rs2148425901
|
|
|
NM_000191.3(HMGCL):c.732C>T (p.Asn244=)
|
|
|
|
NM_000191.3(HMGCL):c.735C>G (p.Thr245=)
|
rs202074025
|
|
|
NM_000191.3(HMGCL):c.735C>T (p.Thr245=)
|
|
|
|
NM_000191.3(HMGCL):c.736T>C (p.Leu246=)
|
rs143823689
|
|
|
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
|
|
|
|
NM_000191.3(HMGCL):c.745C>T (p.Leu249=)
|
|
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
|
NM_000191.3(HMGCL):c.750+14T>C
|
|
|
|
NM_000191.3(HMGCL):c.750+14del
|
|
|
|
NM_000191.3(HMGCL):c.750+18C>T
|
|
|
|
NM_000191.3(HMGCL):c.750+19C>T
|
|
|
|
NM_000191.3(HMGCL):c.750+2T>C
|
|
|
|
NM_000191.3(HMGCL):c.750+6C>T
|
|
|
|
NM_000191.3(HMGCL):c.751-10A>G
|
|
|
|
NM_000191.3(HMGCL):c.751-10_751-9del
|
rs1638366878
|
|
|
NM_000191.3(HMGCL):c.751-11T>C
|
|
|
|
NM_000191.3(HMGCL):c.751-12T>A
|
|
|
|
NM_000191.3(HMGCL):c.751-13C>G
|
|
|
|
NM_000191.3(HMGCL):c.751-15T>A
|
|
|
|
NM_000191.3(HMGCL):c.751-17C>T
|
|
|
|
NM_000191.3(HMGCL):c.751-3T>C
|
rs1356054021
|
|
|
NM_000191.3(HMGCL):c.751-4C>T
|
|
|
|
NM_000191.3(HMGCL):c.751-7T>C
|
|
|
|
NM_000191.3(HMGCL):c.751-8G>A
|
|
|
|
NM_000191.3(HMGCL):c.751-9T>C
|
|
|
|
NM_000191.3(HMGCL):c.759G>A (p.Val253=)
|
rs1570642400
|
|
|
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
|
|
|
|
NM_000191.3(HMGCL):c.765C>A (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.765C>G (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.769del (p.Asp257fs)
|
rs2148417048
|
|
|
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
|
rs756958205
|
|
|
NM_000191.3(HMGCL):c.771C>T (p.Asp257=)
|
rs1300668281
|
|
|
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
|
|
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
|
NM_000191.3(HMGCL):c.795C>T (p.Gly265=)
|
rs1488079271
|
|
|
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)
|
rs1220289416
|
|
|
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
|
rs750347526
|
|
|
NM_000191.3(HMGCL):c.801C>T (p.Pro267=)
|
|
|
|
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
|
|
|
|
NM_000191.3(HMGCL):c.810G>A (p.Gln270=)
|
|
|
|
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
|
|
|
|
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
|
rs1638363983
|
|
|
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
|
|
|
|
NM_000191.3(HMGCL):c.826T>C (p.Leu276=)
|
rs2148416982
|
|
|
NM_000191.3(HMGCL):c.840C>T (p.Asp280=)
|
|
|
|
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)
|
rs1638363122
|
|
|
NM_000191.3(HMGCL):c.841C>T (p.Leu281=)
|
rs1638363122
|
|
|
NM_000191.3(HMGCL):c.846C>T (p.Val282=)
|
rs2148416963
|
|
|
NM_000191.3(HMGCL):c.849C>T (p.Tyr283=)
|
|
|
|
NM_000191.3(HMGCL):c.862T>C (p.Leu288=)
|
|
|
|
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
|
|
|
|
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
|
|
|
|
NM_000191.3(HMGCL):c.874_876+31del
|
|
|
|
NM_000191.3(HMGCL):c.874dup (p.Thr292fs)
|
|
|
|
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)
|
rs1638362250
|
|
|
NM_000191.3(HMGCL):c.876+14C>A
|
|
|
|
NM_000191.3(HMGCL):c.876+17C>G
|
|
|
|
NM_000191.3(HMGCL):c.876+18del
|
|
|
|
NM_000191.3(HMGCL):c.876+19del
|
|
|
|
NM_000191.3(HMGCL):c.876+5_876+8dup
|
rs1261907415
|
|
|
NM_000191.3(HMGCL):c.876+7C>A
|
|
|
|
NM_000191.3(HMGCL):c.876+9A>G
|
|
|
|
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
|
|
|
|
NM_000191.3(HMGCL):c.877-11G>T
|
|
|
|
NM_000191.3(HMGCL):c.877-17T>C
|
|
|
|
NM_000191.3(HMGCL):c.877-17dup
|
|
|
|
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
|
|
|
|
NM_000191.3(HMGCL):c.888C>T (p.Leu296=)
|
|
|
|
NM_000191.3(HMGCL):c.894G>A (p.Lys298=)
|
|
|
|
NM_000191.3(HMGCL):c.897T>A (p.Leu299=)
|
rs992734996
|
|
|
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)
|
rs2148415814
|
|
|
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
|
rs1638700415
|
|
|
NM_000191.3(HMGCL):c.909A>G (p.Gly303=)
|
|
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
|
NM_000191.3(HMGCL):c.915T>C (p.Phe305=)
|
|
|
|
NM_000191.3(HMGCL):c.918C>T (p.Ile306=)
|
rs2148415804
|
|
|
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
|
|
|
|
NM_000191.3(HMGCL):c.933C>T (p.Asn311=)
|
rs1194563406
|
|
|
NM_000191.3(HMGCL):c.93G>A (p.Lys31=)
|
|
|
|
NM_000191.3(HMGCL):c.942T>A (p.Thr314=)
|
|
|
|
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)
|
rs1557484629
|
|
|
NM_000191.3(HMGCL):c.960G>A (p.Gln320=)
|
|
|
|
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
|
|
|
|
NM_000191.3(HMGCL):c.966C>G (p.Thr322=)
|
|
|
|
NM_000191.3(HMGCL):c.969T>C (p.Cys323=)
|
rs2148415747
|
|
|
NM_000255.4(MMUT):c.1885dup (p.Arg629fs)
|
rs1561952122
|
|
|
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
|
rs1766985866
|
|
|
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
|
|
|
|
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
|
|
|
|
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
|
rs2063428007
|
|
|
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
|
|
|
|
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
|
rs2152588978
|
|
|
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)
|
rs398123297
|
|
|
NM_000282.4(PCCA):c.1026G>A (p.Lys342=)
|
rs2152589052
|
|
|
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
|
|
|
|
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
|
|
|
|
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser)
|
rs2063430702
|
|
|
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
|
|
|
|
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val)
|
rs1014756935
|
|
|
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)
|
rs542465356
|
|
|
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser)
|
rs2152589132
|
|
|
NM_000282.4(PCCA):c.1042T>C (p.Leu348=)
|
rs2152589147
|
|
|
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
|
|
|
|
NM_000282.4(PCCA):c.105+10A>G
|
|
|
|
NM_000282.4(PCCA):c.105+11A>G
|
|
|
|
NM_000282.4(PCCA):c.105+18C>T
|
|
|
|
NM_000282.4(PCCA):c.105+1G>A
|
rs879253804
|
|
|
NM_000282.4(PCCA):c.105+20C>T
|
|
|
|
NM_000282.4(PCCA):c.105+8G>A
|
|
|
|
NM_000282.4(PCCA):c.105+9C>T
|
|
|
|
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile)
|
rs2063432405
|
|
|
NM_000282.4(PCCA):c.106-11T>C
|
|
|
|
NM_000282.4(PCCA):c.106-12C>A
|
|
|
|
NM_000282.4(PCCA):c.106-12del
|
rs2152250467
|
|
|
NM_000282.4(PCCA):c.106-17C>T
|
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
|
NM_000282.4(PCCA):c.106-2A>G
|
|
|
|
NM_000282.4(PCCA):c.106-5del
|
|
|
|
NM_000282.4(PCCA):c.106-5dup
|
|
|
|
NM_000282.4(PCCA):c.106-9T>G
|
|
|
|
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
|
|
|
|
NM_000282.4(PCCA):c.1062C>G (p.Leu354=)
|
|
|
|
NM_000282.4(PCCA):c.1062C>T (p.Leu354=)
|
|
|
|
NM_000282.4(PCCA):c.1065+11C>T
|
|
|
|
NM_000282.4(PCCA):c.1065+18T>A
|
rs1458093935
|
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
|
NM_000282.4(PCCA):c.1065+1G>C
|
rs2063433750
|
|
|
NM_000282.4(PCCA):c.1065+3AAC[2]
|
rs1467232371
|
|
|
NM_000282.4(PCCA):c.1065+7A>T
|
|
|
|
NM_000282.4(PCCA):c.1065+8C>T
|
|
|
|
NM_000282.4(PCCA):c.1066-10G>C
|
rs1486164333
|
|
|
NM_000282.4(PCCA):c.1066-15A>G
|
|
|
|
NM_000282.4(PCCA):c.1066-4G>T
|
|
|
|
NM_000282.4(PCCA):c.1066-7C>G
|
|
|
|
NM_000282.4(PCCA):c.1066-8C>T
|
|
|
|
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs)
|
rs2152683826
|
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
|
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
|
|
|
|
NM_000282.4(PCCA):c.108T>C (p.His36=)
|
|
|
|
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
|
rs1328083857
|
|
|
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
|
|
|
|
NM_000282.4(PCCA):c.1104C>T (p.Asp368=)
|
|
|
|
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
|
|
|
|
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
|
rs2152683893
|
|
|
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
|
|
|
|
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
|
|
|
|
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
|
|
|
|
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
|
|
|
|
NM_000282.4(PCCA):c.1132_1140del (p.Lys378_Tyr380del)
|
|
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
|
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
|
|
|
|
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser)
|
rs2152683965
|
|
|
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
|
|
|
|
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
|
|
|
|
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
|
|
|
|
NM_000282.4(PCCA):c.1152C>T (p.His384=)
|
|
|
|
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
|
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
|
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
|
|
|
|
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
|
rs2152684012
|
|
|
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
|
|
|
|
NM_000282.4(PCCA):c.1168del (p.Arg390fs)
|
|
|
|
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
|
|
|
|
NM_000282.4(PCCA):c.1170C>T (p.Arg390=)
|
|
|
|
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
|
|
|
|
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
|
rs202015762
|
|
|
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
|
|
|
|
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
|
|
|
|
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
|
|
|
|
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
|
|
|
|
NM_000282.4(PCCA):c.1179C>A (p.Gly393=)
|
rs1430193054
|
|
|
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val)
|
rs1354175358
|
|
|
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
|
rs1295357399
|
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
|
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu)
|
rs1301904623
|
|
|
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
|
|
|
|
NM_000282.4(PCCA):c.1209+10A>G
|
rs764226410
|
|
|
NM_000282.4(PCCA):c.1209+13G>C
|
|
|
|
NM_000282.4(PCCA):c.1209+14T>G
|
|
|
|
NM_000282.4(PCCA):c.1209+18G>A
|
|
|
|
NM_000282.4(PCCA):c.1209+18G>T
|
|
|
|
NM_000282.4(PCCA):c.1209+2T>G
|
|
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
|
NM_000282.4(PCCA):c.1209+8G>C
|
|
|
|
NM_000282.4(PCCA):c.1209G>A (p.Glu403=)
|
rs775767058
|
|
|
NM_000282.4(PCCA):c.1210-14C>T
|
|
|
|
NM_000282.4(PCCA):c.1210-14del
|
|
|
|
NM_000282.4(PCCA):c.1210-15C>T
|
|
|
|
NM_000282.4(PCCA):c.1210-16T>C
|
|
|
|
NM_000282.4(PCCA):c.1210-19C>G
|
|
|
|
NM_000282.4(PCCA):c.1210-19C>T
|
|
|
|
NM_000282.4(PCCA):c.1210-1G>A
|
|
|
|
NM_000282.4(PCCA):c.1210-4T>C
|
rs1415422969
|
|
|
NM_000282.4(PCCA):c.1210-9A>T
|
|
|
|
NM_000282.4(PCCA):c.1212C>T (p.Asp404=)
|
rs2152686072
|
|
|
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala)
|
rs772750102
|
|
|
NM_000282.4(PCCA):c.1215C>T (p.Pro405=)
|
|
|
|
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu)
|
rs1190274343
|
|
|
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
|
|
|
|
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
|
rs2152686094
|
|
|
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
|
|
|
|
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
|
|
|
|
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
|
|
|
|
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
|
|
|
|
NM_000282.4(PCCA):c.1243G>A (p.Gly415Arg)
|
|
|
|
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
|
|
|
|
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
|
rs2066177786
|
|
|
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
|
|
|
|
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
|
|
|
|
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
|
|
|
|
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
|
|
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
|
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
|
rs763916930
|
|
|
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
|
|
|
|
NM_000282.4(PCCA):c.1275T>C (p.His425=)
|
|
|
|
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
|
|
|
|
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter)
|
rs2047400320
|
|
|
NM_000282.4(PCCA):c.1284+10T>G
|
|
|
|
NM_000282.4(PCCA):c.1284+10dup
|
rs1309984509
|
|
|
NM_000282.4(PCCA):c.1284+14C>T
|
|
|
|
NM_000282.4(PCCA):c.1284+18_1284+34del
|
|
|
|
NM_000282.4(PCCA):c.1284+19A>G
|
rs2066182757
|
|
|
NM_000282.4(PCCA):c.1284+7C>A
|
|
|
|
NM_000282.4(PCCA):c.1285-12_1285-8del
|
rs2066517246
|
|
|
NM_000282.4(PCCA):c.1285-13_1285-6del
|
rs535982202
|
|
|
NM_000282.4(PCCA):c.1285-14T>C
|
rs1374058554
|
|
|
NM_000282.4(PCCA):c.1285-2A>G
|
|
|
|
NM_000282.4(PCCA):c.1285-7C>T
|
rs748531448
|
|
|
NM_000282.4(PCCA):c.1285-7dup
|
rs2066518077
|
|
|
NM_000282.4(PCCA):c.1285-8dup
|
rs2066517246
|
|
|
NM_000282.4(PCCA):c.1285-9T>C
|
|
|
|
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly)
|
rs776821944
|
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
|
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
|
|
|
|
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
|
|
|
|
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu)
|
rs759257021
|
|
|
NM_000282.4(PCCA):c.1311A>T (p.Pro437=)
|
rs2152692646
|
|
|
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
|
rs2152692650
|
|
|
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
|
|
|
|
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
|
|
|
|
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
|
|
|
|
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
|
|
|
|
NM_000282.4(PCCA):c.1353+10A>C
|
rs1595236362
|
|
|
NM_000282.4(PCCA):c.1353+10A>G
|
rs1595236362
|
|
|
NM_000282.4(PCCA):c.1353+10del
|
|
|
|
NM_000282.4(PCCA):c.1353+12T>G
|
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
|
NM_000282.4(PCCA):c.1353+9_1353+13del
|
|
|
|
NM_000282.4(PCCA):c.1354-13T>C
|
|
|
|
NM_000282.4(PCCA):c.1354-14T>G
|
|
|
|
NM_000282.4(PCCA):c.1354-17T>G
|
|
|
|
NM_000282.4(PCCA):c.1354-18T>C
|
|
|
|
NM_000282.4(PCCA):c.1354-20_1354-17del
|
|
|
|
NM_000282.4(PCCA):c.1354-3dup
|
|
|
|
NM_000282.4(PCCA):c.1354-8G>C
|
|
|
|
NM_000282.4(PCCA):c.1356A>G (p.Leu452=)
|
|
|
|
NM_000282.4(PCCA):c.1362A>C (p.Thr454=)
|
rs765949778
|
|
|
NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)
|
|
|
|
NM_000282.4(PCCA):c.1365T>C (p.Tyr455=)
|
rs1225545034
|
|
|
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser)
|
rs1566911665
|
|
|
NM_000282.4(PCCA):c.136A>G (p.Met46Val)
|
rs774158004
|
|
|
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
|
|
|
|
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
|
|
|
|
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
|
rs2152697440
|
|
|
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr)
|
rs370549437
|
|
|
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
|
|
|
|
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
|
rs769970677
|
|
|
NM_000282.4(PCCA):c.1407A>T (p.Ala469=)
|
rs2152697468
|
|
|
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
|
|
|
|
NM_000282.4(PCCA):c.1408C>T (p.Leu470=)
|
rs1566911871
|
|
|
NM_000282.4(PCCA):c.1415A>G (p.Asn472Ser)
|
|
|
|
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
|
|
|
|
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
|
|
|
|
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
|
|
|
|
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
|
rs1437714151
|
|
|
NM_000282.4(PCCA):c.141G>T (p.Val47=)
|
|
|
|
NM_000282.4(PCCA):c.1422T>C (p.Val474=)
|
rs2066771458
|
|
|
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe)
|
rs35719359
|
|
|
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
|
|
|
|
NM_000282.4(PCCA):c.1429+10A>G
|
|
|
|
NM_000282.4(PCCA):c.1429+13A>T
|
|
|
|
NM_000282.4(PCCA):c.1429+13_1429+14del
|
|
|
|
NM_000282.4(PCCA):c.1429+15T>G
|
|
|
|
NM_000282.4(PCCA):c.1429+18C>T
|
rs1445188783
|
|
|
NM_000282.4(PCCA):c.1429+19A>G
|
|
|
|
NM_000282.4(PCCA):c.1429+20C>T
|
rs2152697607
|
|
|
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
|
|
|
|
NM_000282.4(PCCA):c.1430-14C>A
|
|
|
|
NM_000282.4(PCCA):c.1430-15T>C
|
|
|
|
NM_000282.4(PCCA):c.1430-16A>G
|
|
|
|
NM_000282.4(PCCA):c.1430-17T>C
|
|
|
|
NM_000282.4(PCCA):c.1430-18A>T
|
rs770776146
|
|
|
NM_000282.4(PCCA):c.1430-1G>A
|
rs2152733805
|
|
|
NM_000282.4(PCCA):c.1430-2A>T
|
|
|
|
NM_000282.4(PCCA):c.1430-8A>T
|
|
|
|
NM_000282.4(PCCA):c.1430-9dup
|
|
|
|
NM_000282.4(PCCA):c.1437A>C (p.Thr479=)
|
|
|
|
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
|
|
|
|
NM_000282.4(PCCA):c.1446T>C (p.Ile482=)
|
|
|
|
NM_000282.4(PCCA):c.1449A>G (p.Ala483=)
|
rs764611115
|
|
|
NM_000282.4(PCCA):c.1449A>T (p.Ala483=)
|
|
|
|
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe)
|
rs1302157004
|
|
|
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
|
rs752220238
|
|
|
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter)
|
rs2069404553
|
|
|
NM_000282.4(PCCA):c.1458A>C (p.Arg486=)
|
rs2152733872
|
|
|
NM_000282.4(PCCA):c.145del (p.Arg49fs)
|
rs2047402577
|
|
|
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)
|
rs767997785
|
|
|
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
|
|
|
|
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
|
|
|
|
NM_000282.4(PCCA):c.1477del (p.Arg493fs)
|
rs746733688
|
|
|
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
|
|
|
|
NM_000282.4(PCCA):c.1479C>G (p.Arg493=)
|
|
|
|
NM_000282.4(PCCA):c.1482T>C (p.Phe494=)
|
|
|
|
NM_000282.4(PCCA):c.1491A>G (p.Gly497=)
|
rs965243149
|
|
|
NM_000282.4(PCCA):c.1494C>T (p.Asp498=)
|
rs977076579
|
|
|
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
|
|
|
|
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
|
|
|
|
NM_000282.4(PCCA):c.1499G>A (p.Ser500Asn)
|
|
|
|
NM_000282.4(PCCA):c.1506A>G (p.Lys502=)
|
|
|
|
NM_000282.4(PCCA):c.1512C>G (p.Leu504=)
|
|
|
|
NM_000282.4(PCCA):c.1512C>T (p.Leu504=)
|
|
|
|
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
|
|
|
|
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu)
|
rs146061036
|
|
|
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
|
|
|
|
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=)
|
rs2152734002
|
|
|
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
|
|
|
|
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val)
|
rs779659813
|
|
|
NM_000282.4(PCCA):c.1539del (p.Gly514fs)
|
rs1566945996
|
|
|
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
|
|
|
|
NM_000282.4(PCCA):c.1540+13T>C
|
rs2069419811
|
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
|
NM_000282.4(PCCA):c.1540+7A>G
|
rs761046263
|
|
|
NM_000282.4(PCCA):c.1540+9G>A
|
|
|
|
NM_000282.4(PCCA):c.1540+9G>T
|
|
|
|
NM_000282.4(PCCA):c.1541-12_1541-9del
|
rs763530693
|
|
|
NM_000282.4(PCCA):c.1541-14T>C
|
|
|
|
NM_000282.4(PCCA):c.1541-16G>A
|
|
|
|
NM_000282.4(PCCA):c.1541-17T>C
|
|
|
|
NM_000282.4(PCCA):c.1541-19G>A
|
|
|
|
NM_000282.4(PCCA):c.1541-19G>T
|
|
|
|
NM_000282.4(PCCA):c.1541-19_1541-12del
|
|
|
|
NM_000282.4(PCCA):c.1541-19del
|
rs773809966
|
|
|
NM_000282.4(PCCA):c.1541-20_1541-9del
|
|
|
|
NM_000282.4(PCCA):c.1541-5C>T
|
|
|
|
NM_000282.4(PCCA):c.1541-6C>T
|
|
|
|
NM_000282.4(PCCA):c.1546A>G (p.Met516Val)
|
|
|
|
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
|
|
|
|
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
|
rs2071086995
|
|
|
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn)
|
rs2071087775
|
|
|
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
|
|
|
|
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr)
|
rs2152751879
|
|
|
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
|
|
|
|
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
|
|
|
|
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
|
|
|
|
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu)
|
rs2071090257
|
|
|
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
|
rs2152751916
|
|
|
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
|
|
|
|
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
|
rs2152751931
|
|
|
NM_000282.4(PCCA):c.1594T>C (p.Leu532=)
|
rs2152751935
|
|
|
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
|
|
|
|
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
|
rs1344574242
|
|
|
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
|
rs2152751951
|
|
|
NM_000282.4(PCCA):c.159A>C (p.Ser53=)
|
|
|
|
NM_000282.4(PCCA):c.159A>T (p.Ser53=)
|
|
|
|
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
|
|
|
|
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
|
rs1566960733
|
|
|
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg)
|
rs2152751997
|
|
|
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
|
|
|
|
NM_000282.4(PCCA):c.1643+10A>G
|
|
|
|
NM_000282.4(PCCA):c.1643+11T>C
|
rs2152752064
|
|
|
NM_000282.4(PCCA):c.1643+12C>A
|
|
|
|
NM_000282.4(PCCA):c.1643+15T>C
|
|
|
|
NM_000282.4(PCCA):c.1643+17A>G
|
|
|
|
NM_000282.4(PCCA):c.1643+19A>G
|
|
|
|
NM_000282.4(PCCA):c.1643+6G>A
|
|
|
|
NM_000282.4(PCCA):c.1643+8_1643+13del
|
rs2152752048
|
|
|
NM_000282.4(PCCA):c.1643+9G>A
|
|
|
|
NM_000282.4(PCCA):c.1644-18C>T
|
rs1431833092
|
|
|
NM_000282.4(PCCA):c.1644-7A>G
|
|
|
|
NM_000282.4(PCCA):c.1644-9C>T
|
rs1425956784
|
|
|
NM_000282.4(PCCA):c.1650T>G (p.Pro550=)
|
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
|
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
|
rs1461874924
|
|
|
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val)
|
rs2152811800
|
|
|
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
|
rs2075362375
|
|
|
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
|
|
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
|
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
|
|
|
|
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
|
|
|
|
NM_000282.4(PCCA):c.1695G>A (p.Leu565=)
|
rs1595621243
|
|
|
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
|
|
|
|
NM_000282.4(PCCA):c.16del (p.Val6fs)
|
|
|
|
NM_000282.4(PCCA):c.1704A>G (p.Lys568=)
|
|
|
|
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
|
|
|
|
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
|
|
|
|
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
|
|
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
|
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
|
|
|
|
NM_000282.4(PCCA):c.1721C>G (p.Ala574Gly)
|
|
|
|
NM_000282.4(PCCA):c.1722A>T (p.Ala574=)
|
|
|
|
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp)
|
rs1475268855
|
|
|
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
|
|
|
|
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys)
|
rs2152811890
|
|
|
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
|
rs2152811890
|
|
|
NM_000282.4(PCCA):c.1740G>A (p.Val580=)
|
rs2152811913
|
|
|
NM_000282.4(PCCA):c.1746+12T>C
|
|
|
|
NM_000282.4(PCCA):c.1746+14_1746+17del
|
|
|
|
NM_000282.4(PCCA):c.1746+15T>C
|
|
|
|
NM_000282.4(PCCA):c.1746+17del
|
|
|
|
NM_000282.4(PCCA):c.1746+1G>A
|
rs2075369142
|
|
|
NM_000282.4(PCCA):c.1746+2T>C
|
|
|
|
NM_000282.4(PCCA):c.1747-11T>C
|
|
|
|
NM_000282.4(PCCA):c.1747-12G>A
|
|
|
|
NM_000282.4(PCCA):c.1747-15T>G
|
|
|
|
NM_000282.4(PCCA):c.1747-17A>G
|
|
|
|
NM_000282.4(PCCA):c.1747-18T>C
|
|
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
|
NM_000282.4(PCCA):c.1747-20C>T
|
|
|
|
NM_000282.4(PCCA):c.1747-6C>T
|
|
|
|
NM_000282.4(PCCA):c.1747-7A>G
|
|
|
|
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
|
|
|
|
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
|
|
|
|
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
|
|
|
|
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
|
rs1595860527
|
|
|
NM_000282.4(PCCA):c.1779C>T (p.Thr593=)
|
|
|
|
NM_000282.4(PCCA):c.1782C>T (p.Ser594=)
|
|
|
|
NM_000282.4(PCCA):c.1785G>T (p.Thr595=)
|
|
|
|
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
|
rs2079093623
|
|
|
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val)
|
rs2079093758
|
|
|
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
|
|
|
|
NM_000282.4(PCCA):c.1800G>C (p.Ser600=)
|
rs761681712
|
|
|
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
|
rs761681712
|
|
|
NM_000282.4(PCCA):c.1803C>T (p.Pro601=)
|
|
|
|
NM_000282.4(PCCA):c.1804T>C (p.Leu602=)
|
|
|
|
NM_000282.4(PCCA):c.1806A>G (p.Leu602=)
|
rs2152893970
|
|
|
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
|
rs2079094668
|
|
|
NM_000282.4(PCCA):c.1809G>A (p.Leu603=)
|
|
|
|
NM_000282.4(PCCA):c.1812T>C (p.Ser604=)
|
rs2152893989
|
|
|
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
|
|
|
|
NM_000282.4(PCCA):c.1815C>T (p.Val605=)
|
|
|
|
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
|
|
|
|
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
|
|
|
|
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala)
|
rs749767976
|
|
|
NM_000282.4(PCCA):c.183+15G>T
|
|
|
|
NM_000282.4(PCCA):c.183+19T>C
|
rs780105316
|
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
|
NM_000282.4(PCCA):c.183+3A>G
|
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
|
NM_000282.4(PCCA):c.183+7A>G
|
rs369767655
|
|
|
NM_000282.4(PCCA):c.183+9T>G
|
rs2152251053
|
|
|
NM_000282.4(PCCA):c.1830T>C (p.Thr610=)
|
|
|
|
NM_000282.4(PCCA):c.1830T>G (p.Thr610=)
|
|
|
|
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)
|
rs2152894046
|
|
|
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr)
|
rs1947530469
|
|
|
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
|
|
|
|
NM_000282.4(PCCA):c.184-10C>G
|
|
|
|
NM_000282.4(PCCA):c.184-10C>T
|
rs2048349934
|
|
|
NM_000282.4(PCCA):c.184-11dup
|
|
|
|
NM_000282.4(PCCA):c.184-15T>G
|
rs1257547578
|
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
|
NM_000282.4(PCCA):c.184-19G>A
|
|
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
|
NM_000282.4(PCCA):c.184-9T>A
|
|
|
|
NM_000282.4(PCCA):c.184-9T>C
|
|
|
|
NM_000282.4(PCCA):c.1842C>G (p.Val614=)
|
|
|
|
NM_000282.4(PCCA):c.1842C>T (p.Val614=)
|
|
|
|
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
|
|
|
|
NM_000282.4(PCCA):c.1845+10G>T
|
rs1456360150
|
|
|
NM_000282.4(PCCA):c.1845+12A>G
|
|
|
|
NM_000282.4(PCCA):c.1845+13A>G
|
|
|
|
NM_000282.4(PCCA):c.1845+20C>A
|
|
|
|
NM_000282.4(PCCA):c.1845+21del
|
|
|
|
NM_000282.4(PCCA):c.1845+2T>G
|
|
|
|
NM_000282.4(PCCA):c.1845+8T>C
|
|
|
|
NM_000282.4(PCCA):c.1845+9T>C
|
|
|
|
NM_000282.4(PCCA):c.1846-10dup
|
|
|
|
NM_000282.4(PCCA):c.1846-13G>T
|
|
|
|
NM_000282.4(PCCA):c.1846-15_1846-14del
|
|
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
|
NM_000282.4(PCCA):c.1846-1G>T
|
rs1555298451
|
|
|
NM_000282.4(PCCA):c.1846-20A>G
|
|
|
|
NM_000282.4(PCCA):c.1846-6T>C
|
|
|
|
NM_000282.4(PCCA):c.1846-9_1846-6del
|
|
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
|
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
|
|
|
|
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
|
|
|
|
NM_000282.4(PCCA):c.1863A>C (p.Ala621=)
|
rs937736837
|
|
|
NM_000282.4(PCCA):c.1863A>T (p.Ala621=)
|
|
|
|
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
|
|
|
|
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
|
|
|
|
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
|
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
|
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
|
|
|
|
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
|
NM_000282.4(PCCA):c.1893T>C (p.Gly631=)
|
rs2152925693
|
|
|
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
|
rs61760965
|
|
|
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
|
|
|
|
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)
|
rs375617644
|
|
|
NM_000282.4(PCCA):c.1899+10A>G
|
|
|
|
NM_000282.4(PCCA):c.1899+12A>C
|
|
|
|
NM_000282.4(PCCA):c.1899+12A>G
|
|
|
|
NM_000282.4(PCCA):c.1899+14C>T
|
|
|
|
NM_000282.4(PCCA):c.1899+15A>G
|
rs1595942350
|
|
|
NM_000282.4(PCCA):c.1899+18C>A
|
|
|
|
NM_000282.4(PCCA):c.1899+21_1899+24del
|
|
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
|
NM_000282.4(PCCA):c.18C>G (p.Val6=)
|
|
|
|
NM_000282.4(PCCA):c.18C>T (p.Val6=)
|
rs752423629
|
|
|
NM_000282.4(PCCA):c.1900-14G>T
|
|
|
|
NM_000282.4(PCCA):c.1900-15T>C
|
|
|
|
NM_000282.4(PCCA):c.1900-15del
|
|
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
|
NM_000282.4(PCCA):c.1900-20G>T
|
|
|
|
NM_000282.4(PCCA):c.1900-7C>T
|
|
|
|
NM_000282.4(PCCA):c.1900-8C>T
|
rs1480940423
|
|
|
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
|
|
|
|
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
|
|
|
|
NM_000282.4(PCCA):c.1905G>A (p.Lys635=)
|
|
|
|
NM_000282.4(PCCA):c.1911T>C (p.Asn637=)
|
|
|
|
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
|
rs2152998157
|
|
|
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)
|
rs1594099709
|
|
|
NM_000282.4(PCCA):c.1920C>T (p.Thr640=)
|
rs2152998162
|
|
|
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
|
|
|
|
NM_000282.4(PCCA):c.1929C>A (p.Ala643=)
|
|
|
|
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
|
|
|
|
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
|
|
|
|
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
|
|
|
|
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
|
|
|
|
NM_000282.4(PCCA):c.1947T>C (p.Phe649=)
|
|
|
|
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
|
rs1449490636
|
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
|
NM_000282.4(PCCA):c.1953G>T (p.Leu651=)
|
rs765771203
|
|
|
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
|
rs2086766593
|
|
|
NM_000282.4(PCCA):c.1962G>T (p.Val654=)
|
rs2086766593
|
|
|
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
|
|
|
|
NM_000282.4(PCCA):c.1971C>T (p.Asp657=)
|
|
|
|
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
|
|
|
|
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
|
|
|
|
NM_000282.4(PCCA):c.1980T>C (p.Ser660=)
|
rs751989323
|
|
|
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
|
|
|
|
NM_000282.4(PCCA):c.1983T>C (p.Val661=)
|
|
|
|
NM_000282.4(PCCA):c.1984C>T (p.Leu662=)
|
|
|
|
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
|
|
|
|
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
|
|
|
|
NM_000282.4(PCCA):c.1992C>A (p.Ser664=)
|
|
|
|
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
|
|
|
|
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
|
|
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
|
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
|
|
|
|
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
|
|
|
|
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
|
|
|
|
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
|
|
|
|
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
|
rs2152998254
|
|
|
NM_000282.4(PCCA):c.2013G>A (p.Val671=)
|
|
|
|
NM_000282.4(PCCA):c.2013G>T (p.Val671=)
|
|
|
|
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
|
rs773033856
|
|
|
NM_000282.4(PCCA):c.2016C>G (p.Ala672=)
|
|
|
|
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile)
|
rs142646074
|
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
|
NM_000282.4(PCCA):c.2017G>T (p.Val673Phe)
|
|
|
|
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
|
|
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
|
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
|
|
|
|
NM_000282.4(PCCA):c.2031T>C (p.Pro677=)
|
rs2152998273
|
|
|
NM_000282.4(PCCA):c.2040+12G>C
|
|
|
|
NM_000282.4(PCCA):c.2040+12G>T
|
|
|
|
NM_000282.4(PCCA):c.2040+15T>C
|
|
|
|
NM_000282.4(PCCA):c.2040+16G>C
|
rs2152998313
|
|
|
NM_000282.4(PCCA):c.2040+17TC[4]
|
rs1312258807
|
|
|
NM_000282.4(PCCA):c.2040+18C>G
|
|
|
|
NM_000282.4(PCCA):c.2040+20C>G
|
|
|
|
NM_000282.4(PCCA):c.2040+20C>T
|
|
|
|
NM_000282.4(PCCA):c.2040+2T>G
|
|
|
|
NM_000282.4(PCCA):c.2040+7G>A
|
|
|
|
NM_000282.4(PCCA):c.2040+8C>T
|
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
|
NM_000282.4(PCCA):c.2040+9TG[5]
|
rs751014655
|
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
|
NM_000282.4(PCCA):c.2041-10del
|
|
|
|
NM_000282.4(PCCA):c.2041-16C>T
|
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
|
NM_000282.4(PCCA):c.2041-8T>C
|
rs2153008293
|
|
|
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
|
rs745390236
|
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
|
NM_000282.4(PCCA):c.207T>C (p.Ala69=)
|
rs2152278538
|
|
|
NM_000282.4(PCCA):c.2094T>C (p.Ser698=)
|
rs2153008347
|
|
|
NM_000282.4(PCCA):c.2098_2104del (p.Thr700fs)
|
|
|
|
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
|
|
|
|
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
|
|
|
|
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
|
rs141926030
|
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
|
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
|
|
|
|
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
|
|
|
|
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
|
|
|
|
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
|
rs2087968295
|
|
|
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
|
|
|
|
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
|
|
|
|
NM_000282.4(PCCA):c.2118+12_2118+19dup
|
|
|
|
NM_000282.4(PCCA):c.2118+18C>T
|
|
|
|
NM_000282.4(PCCA):c.2118+20T>G
|
|
|
|
NM_000282.4(PCCA):c.2118+3G>C
|
|
|
|
NM_000282.4(PCCA):c.2118+7C>T
|
|
|
|
NM_000282.4(PCCA):c.2118+8C>A
|
|
|
|
NM_000282.4(PCCA):c.2118G>A (p.Thr706=)
|
rs758468297
|
|
|
NM_000282.4(PCCA):c.2119-17A>G
|
|
|
|
NM_000282.4(PCCA):c.2119-19G>A
|
rs1162118685
|
|
|
NM_000282.4(PCCA):c.2119-4C>T
|
|
|
|
NM_000282.4(PCCA):c.2124A>G (p.Lys708=)
|
rs2153010943
|
|
|
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
|
|
|
|
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)
|
rs1317003529
|
|
|
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
|
|
|
|
NM_000282.4(PCCA):c.2133C>T (p.His711=)
|
|
|
|
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg)
|
rs2088292660
|
|
|
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
|
|
|
|
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
|
rs141286340
|
|
|
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
|
|
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
|
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
|
|
|
|
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val)
|
rs1283571787
|
|
|
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
|
rs748808267
|
|
|
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)
|
rs2152278559
|
|
|
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
|
|
|
|
NM_000282.4(PCCA):c.225A>C (p.Ala75=)
|
rs1243423868
|
|
|
NM_000282.4(PCCA):c.225A>G (p.Ala75=)
|
|
|
|
NM_000282.4(PCCA):c.231+10A>G
|
|
|
|
NM_000282.4(PCCA):c.231+18C>A
|
|
|
|
NM_000282.4(PCCA):c.231+19T>G
|
|
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
|
NM_000282.4(PCCA):c.231+9_231+13del
|
rs759203419
|
|
|
NM_000282.4(PCCA):c.232-13T>C
|
|
|
|
NM_000282.4(PCCA):c.232-17A>C
|
|
|
|
NM_000282.4(PCCA):c.232-18T>A
|
|
|
|
NM_000282.4(PCCA):c.232-18T>C
|
|
|
|
NM_000282.4(PCCA):c.232-2A>G
|
rs747968405
|
|
|
NM_000282.4(PCCA):c.232-2A>T
|
rs747968405
|
|
|
NM_000282.4(PCCA):c.232-6A>T
|
rs527249599
|
|
|
NM_000282.4(PCCA):c.234del (p.Ile79fs)
|
|
|
|
NM_000282.4(PCCA):c.243T>A (p.Thr81=)
|
|
|
|
NM_000282.4(PCCA):c.243T>C (p.Thr81=)
|
rs2152278998
|
|
|
NM_000282.4(PCCA):c.24A>T (p.Thr8=)
|
rs117397004
|
|
|
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)
|
rs999936193
|
|
|
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
|
|
|
|
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
|
|
|
|
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn)
|
rs2152279056
|
|
|
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
|
rs2152279061
|
|
|
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
|
|
|
|
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
|
rs2152279075
|
|
|
NM_000282.4(PCCA):c.279C>T (p.His93=)
|
rs776253297
|
|
|
NM_000282.4(PCCA):c.27A>G (p.Ala9=)
|
|
|
|
NM_000282.4(PCCA):c.27_36del (p.Pro10fs)
|
|
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
|
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
|
|
|
|
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
|
rs2048368792
|
|
|
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
|
|
|
|
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
|
|
|
|
NM_000282.4(PCCA):c.291T>C (p.Asp97=)
|
|
|
|
NM_000282.4(PCCA):c.293C>T (p.Ala98Val)
|
rs2152279131
|
|
|
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln)
|
rs1251572354
|
|
|
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu)
|
rs1251572354
|
|
|
NM_000282.4(PCCA):c.300+15G>A
|
|
|
|
NM_000282.4(PCCA):c.300+18T>C
|
|
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
|
NM_000282.4(PCCA):c.300+2T>G
|
|
|
|
NM_000282.4(PCCA):c.300+2dup
|
rs2048370100
|
|
|
NM_000282.4(PCCA):c.300+7A>G
|
rs1241971231
|
|
|
NM_000282.4(PCCA):c.300+8T>G
|
|
|
|
NM_000282.4(PCCA):c.300+9A>G
|
rs2152279171
|
|
|
NM_000282.4(PCCA):c.301-10G>A
|
|
|
|
NM_000282.4(PCCA):c.301-11T>C
|
|
|
|
NM_000282.4(PCCA):c.301-18A>G
|
|
|
|
NM_000282.4(PCCA):c.301-5C>T
|
rs2152382806
|
|
|
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
|
|
|
|
NM_000282.4(PCCA):c.305del (p.His102fs)
|
rs1594413545
|
|
|
NM_000282.4(PCCA):c.306T>C (p.His102=)
|
rs1388078702
|
|
|
NM_000282.4(PCCA):c.30G>A (p.Pro10=)
|
|
|
|
NM_000282.4(PCCA):c.30G>C (p.Pro10=)
|
|
|
|
NM_000282.4(PCCA):c.312A>G (p.Lys104=)
|
|
|
|
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
|
|
|
|
NM_000282.4(PCCA):c.31C>T (p.Leu11=)
|
|
|
|
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
|
|
|
|
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
|
|
|
|
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
|
|
|
|
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
|
|
|
|
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
|
rs922002208
|
|
|
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
|
|
|
|
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
|
|
|
|
NM_000282.4(PCCA):c.345T>C (p.Ala115=)
|
|
|
|
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
|
rs1228885494
|
|
|
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
|
|
|
|
NM_000282.4(PCCA):c.378C>T (p.Ala126=)
|
rs2152382977
|
|
|
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
|
|
|
|
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
|
|
|
|
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
|
|
|
|
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
|
|
|
|
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
|
rs2152383018
|
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
|
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
|
|
|
|
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
|
|
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
|
NM_000282.4(PCCA):c.414+11A>G
|
|
|
|
NM_000282.4(PCCA):c.414+15A>C
|
|
|
|
NM_000282.4(PCCA):c.414+15A>G
|
rs1016791209
|
|
|
NM_000282.4(PCCA):c.414+19A>T
|
|
|
|
NM_000282.4(PCCA):c.414+1G>T
|
rs2152383049
|
|
|
NM_000282.4(PCCA):c.415-10C>A
|
|
|
|
NM_000282.4(PCCA):c.415-13T>C
|
|
|
|
NM_000282.4(PCCA):c.415-1G>A
|
|
|
|
NM_000282.4(PCCA):c.415-2A>G
|
rs746286209
|
|
|
NM_000282.4(PCCA):c.415-4T>C
|
rs2152387053
|
|
|
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
|
rs770129876
|
|
|
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
|
|
|
|
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
|
|
|
|
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
|
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
|
NM_000282.4(PCCA):c.429T>C (p.Tyr143=)
|
|
|
|
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
|
rs200714802
|
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
|
NM_000282.4(PCCA):c.441A>G (p.Ser147=)
|
|
|
|
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
|
|
|
|
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
|
|
|
|
NM_000282.4(PCCA):c.449_468+443del
|
rs2152387124
|
|
|
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
|
|
|
|
NM_000282.4(PCCA):c.459C>T (p.Ala153=)
|
rs1358991180
|
|
|
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
|
|
|
|
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
|
|
|
|
NM_000282.4(PCCA):c.468+10T>C
|
|
|
|
NM_000282.4(PCCA):c.468+10T>G
|
rs2152387181
|
|
|
NM_000282.4(PCCA):c.468+15A>G
|
|
|
|
NM_000282.4(PCCA):c.468+18C>G
|
|
|
|
NM_000282.4(PCCA):c.468+18C>T
|
|
|
|
NM_000282.4(PCCA):c.468+19A>G
|
|
|
|
NM_000282.4(PCCA):c.468+1G>C
|
|
|
|
NM_000282.4(PCCA):c.468+2T>C
|
|
|
|
NM_000282.4(PCCA):c.468+8G>A
|
rs2152387172
|
|
|
NM_000282.4(PCCA):c.468+8_468+10dup
|
|
|
|
NM_000282.4(PCCA):c.469-4A>G
|
|
|
|
NM_000282.4(PCCA):c.469-5C>T
|
|
|
|
NM_000282.4(PCCA):c.469-5dup
|
|
|
|
NM_000282.4(PCCA):c.469-8C>A
|
|
|
|
NM_000282.4(PCCA):c.469-9del
|
|
|
|
NM_000282.4(PCCA):c.474A>G (p.Ala158=)
|
|
|
|
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
|
|
|
|
NM_000282.4(PCCA):c.483C>G (p.Val161=)
|
|
|
|
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
|
|
|
|
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr)
|
rs1177671858
|
|
|
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
|
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
|
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
|
|
|
|
NM_000282.4(PCCA):c.497del (p.Pro166fs)
|
|
|
|
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
|
|
|
|
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
|
|
|
|
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
|
|
|
|
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
|
|
|
|
NM_000282.4(PCCA):c.505_506del (p.His169fs)
|
rs2152478652
|
|
|
NM_000282.4(PCCA):c.506dup (p.His169fs)
|
rs2152478688
|
|
|
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
|
|
|
|
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
|
|
|
|
NM_000282.4(PCCA):c.519C>T (p.Ala173=)
|
|
|
|
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg)
|
rs779286461
|
|
|
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn)
|
rs2152478767
|
|
|
NM_000282.4(PCCA):c.542A>G (p.Lys181Arg)
|
|
|
|
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
|
rs2059069232
|
|
|
NM_000282.4(PCCA):c.564G>A (p.Glu188=)
|
rs1594744855
|
|
|
NM_000282.4(PCCA):c.567T>C (p.Val189=)
|
rs773301690
|
|
|
NM_000282.4(PCCA):c.576C>A (p.Ile192=)
|
|
|
|
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu)
|
rs1225108460
|
|
|
NM_000282.4(PCCA):c.579T>G (p.Pro193=)
|
rs2152478869
|
|
|
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
|
|
|
|
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
|
|
|
|
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg)
|
rs1302125451
|
|
|
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
|
|
|
|
NM_000282.4(PCCA):c.597C>G (p.Val199=)
|
|
|
|
NM_000282.4(PCCA):c.600+15T>C
|
|
|
|
NM_000282.4(PCCA):c.600+16A>C
|
|
|
|
NM_000282.4(PCCA):c.600+17A>C
|
|
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
|
|
NM_000282.4(PCCA):c.601-10G>A
|
rs903647084
|
|
|
NM_000282.4(PCCA):c.601-12C>G
|
|
|
|
NM_000282.4(PCCA):c.601-12C>T
|
|
|
|
NM_000282.4(PCCA):c.601-18C>T
|
|
|
|
NM_000282.4(PCCA):c.601-4A>G
|
|
|
|
NM_000282.4(PCCA):c.601-6T>C
|
|
|
|
NM_000282.4(PCCA):c.601-9C>T
|
rs775469263
|
|
|
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
|
|
|
|
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
|
rs773868428
|
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
|
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
|
|
|
|
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
|
|
|
|
NM_000282.4(PCCA):c.612A>G (p.Glu204=)
|
rs1594860188
|
|
|
NM_000282.4(PCCA):c.615T>C (p.Ala205=)
|
|
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
|
NM_000282.4(PCCA):c.630G>A (p.Arg210=)
|
rs2152522233
|
|
|
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
|
|
|
|
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
|
|
|
|
NM_000282.4(PCCA):c.637+18C>T
|
rs758676556
|
|
|
NM_000282.4(PCCA):c.637+1G>A
|
rs1265911468
|
|
|
NM_000282.4(PCCA):c.637+2T>A
|
rs2152522245
|
|
|
NM_000282.4(PCCA):c.637+3A>G
|
|
|
|
NM_000282.4(PCCA):c.637+9T>G
|
rs2152522254
|
|
|
NM_000282.4(PCCA):c.638-15C>G
|
|
|
|
NM_000282.4(PCCA):c.638-1G>A
|
|
|
|
NM_000282.4(PCCA):c.638-2A>G
|
|
|
|
NM_000282.4(PCCA):c.638-5G>T
|
rs764316702
|
|
|
NM_000282.4(PCCA):c.638-7C>T
|
rs2152558252
|
|
|
NM_000282.4(PCCA):c.638-9T>C
|
|
|
|
NM_000282.4(PCCA):c.63G>A (p.Pro21=)
|
rs2152189800
|
|
|
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
|
rs751840442
|
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
|
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
|
|
|
|
NM_000282.4(PCCA):c.650T>C (p.Met217Thr)
|
rs750593565
|
|
|
NM_000282.4(PCCA):c.651G>C (p.Met217Ile)
|
rs1018685292
|
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
|
NM_000282.4(PCCA):c.66G>A (p.Pro22=)
|
|
|
|
NM_000282.4(PCCA):c.66G>C (p.Pro22=)
|
|
|
|
NM_000282.4(PCCA):c.66G>T (p.Pro22=)
|
|
|
|
NM_000282.4(PCCA):c.672dup (p.Gly225fs)
|
rs1164986524
|
|
|
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp)
|
rs2062161647
|
|
|
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
|
|
|
|
NM_000282.4(PCCA):c.696T>G (p.Ala232=)
|
rs2152558384
|
|
|
NM_000282.4(PCCA):c.69G>A (p.Gln23=)
|
rs1593997093
|
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
|
NM_000282.4(PCCA):c.6G>A (p.Ala2=)
|
rs958365590
|
|
|
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
|
|
|
|
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
|
|
|
|
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
|
|
|
|
NM_000282.4(PCCA):c.708A>G (p.Glu236=)
|
|
|
|
NM_000282.4(PCCA):c.716+16A>G
|
|
|
|
NM_000282.4(PCCA):c.716+1G>C
|
|
|
|
NM_000282.4(PCCA):c.716+20A>G
|
|
|
|
NM_000282.4(PCCA):c.717-15T>G
|
|
|
|
NM_000282.4(PCCA):c.717-19T>G
|
|
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
|
NM_000282.4(PCCA):c.717-5dup
|
rs2062610539
|
|
|
NM_000282.4(PCCA):c.717-8T>G
|
rs1367148068
|
|
|
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
|
|
|
|
NM_000282.4(PCCA):c.720T>C (p.Asp240=)
|
|
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
|
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
|
rs2152189926
|
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
|
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)
|
rs1594992191
|
|
|
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
|
|
|
|
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
|
|
|
|
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
|
|
|
|
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
|
|
|
|
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)
|
rs1064793224
|
|
|
NM_000282.4(PCCA):c.747T>C (p.Ala249=)
|
rs1594992384
|
|
|
NM_000282.4(PCCA):c.753T>A (p.Ser251=)
|
|
|
|
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
|
|
|
|
NM_000282.4(PCCA):c.756T>C (p.Ser252=)
|
rs2152564931
|
|
|
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
|
rs1295789610
|
|
|
NM_000282.4(PCCA):c.762C>A (p.Gly254=)
|
rs758211858
|
|
|
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
|
|
|
|
NM_000282.4(PCCA):c.771A>G (p.Arg257=)
|
rs1483857199
|
|
|
NM_000282.4(PCCA):c.774A>C (p.Leu258=)
|
|
|
|
NM_000282.4(PCCA):c.774A>G (p.Leu258=)
|
|
|
|
NM_000282.4(PCCA):c.775C>T (p.Leu259=)
|
|
|
|
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
|
|
|
|
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
|
rs1451573276
|
|
|
NM_000282.4(PCCA):c.783A>G (p.Glu261=)
|
rs917366865
|
|
|
NM_000282.4(PCCA):c.789del (p.Phe263fs)
|
|
|
|
NM_000282.4(PCCA):c.792T>G (p.Ile264Met)
|
rs1484956776
|
|
|
NM_000282.4(PCCA):c.794A>T (p.Asp265Val)
|
|
|
|
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr)
|
rs2152564988
|
|
|
NM_000282.4(PCCA):c.79C>T (p.Leu27=)
|
rs2152189967
|
|
|
NM_000282.4(PCCA):c.801T>C (p.Pro267=)
|
rs2152564990
|
|
|
NM_000282.4(PCCA):c.807T>C (p.His269=)
|
rs2152565006
|
|
|
NM_000282.4(PCCA):c.819+10T>C
|
rs1280822128
|
|
|
NM_000282.4(PCCA):c.819+13_819+35del
|
|
|
|
NM_000282.4(PCCA):c.819+16A>T
|
rs377356398
|
|
|
NM_000282.4(PCCA):c.819+19C>T
|
|
|
|
NM_000282.4(PCCA):c.819+1G>A
|
|
|
|
NM_000282.4(PCCA):c.819+24del
|
|
|
|
NM_000282.4(PCCA):c.819+7A>G
|
|
|
|
NM_000282.4(PCCA):c.819+8C>T
|
|
|
|
NM_000282.4(PCCA):c.81G>A (p.Leu27=)
|
rs2152189973
|
|
|
NM_000282.4(PCCA):c.820-18A>G
|
|
|
|
NM_000282.4(PCCA):c.820-1G>A
|
rs2063103516
|
|
|
NM_000282.4(PCCA):c.820-20A>C
|
|
|
|
NM_000282.4(PCCA):c.820-8T>C
|
|
|
|
NM_000282.4(PCCA):c.820-9C>T
|
rs1371297395
|
|
|
NM_000282.4(PCCA):c.820G>A (p.Val274Ile)
|
rs767299022
|
|
|
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu)
|
rs1595032543
|
|
|
NM_000282.4(PCCA):c.841A>C (p.Asn281His)
|
rs2152572294
|
|
|
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
|
rs911990330
|
|
|
NM_000282.4(PCCA):c.854T>G (p.Leu285Arg)
|
|
|
|
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys)
|
rs778427348
|
|
|
NM_000282.4(PCCA):c.85del (p.Ala29fs)
|
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
|
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
|
|
|
|
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
|
rs1595033018
|
|
|
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
|
|
|
|
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
|
|
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
|
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
|
|
|
|
NM_000282.4(PCCA):c.880A>C (p.Arg294=)
|
rs2063109467
|
|
|
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
|
|
|
|
NM_000282.4(PCCA):c.897G>C (p.Val299=)
|
rs770113371
|
|
|
NM_000282.4(PCCA):c.900G>A (p.Val300=)
|
rs2152572391
|
|
|
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
|
rs775686458
|
|
|
NM_000282.4(PCCA):c.906A>G (p.Glu302=)
|
|
|
|
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
|
rs776449255
|
|
|
NM_000282.4(PCCA):c.90G>T (p.Ala30=)
|
rs776449255
|
|
|
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
|
rs2063111759
|
|
|
NM_000282.4(PCCA):c.914+14G>A
|
|
|
|
NM_000282.4(PCCA):c.914+14G>C
|
rs2152572441
|
|
|
NM_000282.4(PCCA):c.914+16A>T
|
|
|
|
NM_000282.4(PCCA):c.914+17A>G
|
|
|
|
NM_000282.4(PCCA):c.914+17A>T
|
|
|
|
NM_000282.4(PCCA):c.914+18_914+19inv
|
|
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
|
NM_000282.4(PCCA):c.914+9C>T
|
|
|
|
NM_000282.4(PCCA):c.915-11T>C
|
|
|
|
NM_000282.4(PCCA):c.915-11dup
|
rs1311154145
|
|
|
NM_000282.4(PCCA):c.915-13T>G
|
|
|
|
NM_000282.4(PCCA):c.915-15T>G
|
|
|
|
NM_000282.4(PCCA):c.915-18A>G
|
|
|
|
NM_000282.4(PCCA):c.915-18del
|
|
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
|
NM_000282.4(PCCA):c.915-4G>A
|
|
|
|
NM_000282.4(PCCA):c.915-5T>C
|
rs2152587983
|
|
|
NM_000282.4(PCCA):c.915-6A>G
|
rs2063416816
|
|
|
NM_000282.4(PCCA):c.915-6A>T
|
rs2063416816
|
|
|
NM_000282.4(PCCA):c.915-8A>G
|
rs2063416324
|
|
|
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
|
|
|
|
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg)
|
rs768758704
|
|
|
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
|
|
|
|
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
|
|
|
|
NM_000282.4(PCCA):c.91C>T (p.Leu31=)
|
rs2152190063
|
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
|
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
|
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
|
NM_000282.4(PCCA):c.929C>T (p.Ala310Val)
|
rs146927771
|
|
|
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
|
|
|
|
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
|
rs377248400
|
|
|
NM_000282.4(PCCA):c.931G>A (p.Glu311Lys)
|
|
|
|
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
|
rs369790356
|
|
|
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
|
|
|
|
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly)
|
rs138149179
|
|
|
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
|
|
|
|
NM_000282.4(PCCA):c.939A>G (p.Arg313=)
|
|
|
|
NM_000282.4(PCCA):c.93G>A (p.Leu31=)
|
|
|
|
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
|
rs2152588262
|
|
|
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
|
rs2152588280
|
|
|
NM_000282.4(PCCA):c.944C>T (p.Ala315Val)
|
rs1302507711
|
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
|
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
|
|
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|
|
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
|
rs2152190089
|
|
|
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
|
rs2152588516
|
|
|
NM_000282.4(PCCA):c.957A>G (p.Gln319=)
|
rs756496977
|
|
|
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr)
|
rs1434912184
|
|
|
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
|
|
|
|
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
|
|
|
|
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
|
rs2152588623
|
|
|
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe)
|
rs1394612377
|
|
|
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
|
rs2063425317
|
|
|
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
|
rs2063425317
|
|
|
NM_000282.4(PCCA):c.978A>G (p.Ala326=)
|
|
|
|
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
|
|
|
|
NM_000282.4(PCCA):c.981A>G (p.Val327=)
|
rs2063425788
|
|
|
NM_000282.4(PCCA):c.996T>C (p.Ala332=)
|
rs2152588809
|
|
|
NM_000282.4(PCCA):c.996T>G (p.Ala332=)
|
|
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
|
NM_000282.4(PCCA):c.99C>G (p.Thr33=)
|
|
|
|
NM_000282.4(PCCA):c.99C>T (p.Thr33=)
|
|
|
|
NM_000282.4(PCCA):c.9G>A (p.Gly3=)
|
|
|
|
NM_000282.4(PCCA):c.9G>C (p.Gly3=)
|
rs547209141
|
|
|
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
|
rs2108127602
|
|
|
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
|
rs370304541
|
|
|
NM_000532.5(PCCB):c.1003A>G (p.Asn335Asp)
|
|
|
|
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
|
|
|
|
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
|
|
|
|
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
|
|
|
|
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
|
|
|
|
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
|
rs1934921365
|
|
|
NM_000532.5(PCCB):c.1017C>T (p.Asn339=)
|
rs764080368
|
|
|
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
|
rs2108226621
|
|
|
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
|
|
|
|
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
|
|
|
|
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs)
|
rs2108226643
|
|
|
NM_000532.5(PCCB):c.102T>C (p.Ser34=)
|
|
|
|
NM_000532.5(PCCB):c.1032T>C (p.Phe344=)
|
|
|
|
NM_000532.5(PCCB):c.1035A>G (p.Ala345=)
|
|
|
|
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
|
|
|
|
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
|
|
|
|
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs)
|
rs2108226666
|
|
|
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
|
|
|
|
NM_000532.5(PCCB):c.1047G>A (p.Gly349=)
|
rs2108226680
|
|
|
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
|
rs2108127935
|
|
|
NM_000532.5(PCCB):c.1068C>T (p.Gly356=)
|
rs980116020
|
|
|
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
|
|
|
|
NM_000532.5(PCCB):c.1077T>C (p.Pro359=)
|
|
|
|
NM_000532.5(PCCB):c.1080G>A (p.Lys360=)
|
|
|
|
NM_000532.5(PCCB):c.1086C>T (p.Ala362=)
|
rs748740009
|
|
|
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu)
|
rs2108226720
|
|
|
NM_000532.5(PCCB):c.1090+11G>A
|
|
|
|
NM_000532.5(PCCB):c.1090+13T>C
|
|
|
|
NM_000532.5(PCCB):c.1090+13_1090+16del
|
|
|
|
NM_000532.5(PCCB):c.1090+15_1090+16dup
|
|
|
|
NM_000532.5(PCCB):c.1090+17A>C
|
|
|
|
NM_000532.5(PCCB):c.1090+17A>T
|
|
|
|
NM_000532.5(PCCB):c.1090+17dup
|
|
|
|
NM_000532.5(PCCB):c.1090+19A>G
|
|
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
|
NM_000532.5(PCCB):c.1090+3A>C
|
|
|
|
NM_000532.5(PCCB):c.1090+6A>C
|
|
|
|
NM_000532.5(PCCB):c.1090+7T>C
|
rs2108226731
|
|
|
NM_000532.5(PCCB):c.1090+8G>A
|
rs2108226738
|
|
|
NM_000532.5(PCCB):c.1090_1090+1insTC
|
|
|
|
NM_000532.5(PCCB):c.1091-10C>G
|
|
|
|
NM_000532.5(PCCB):c.1091-12C>G
|
|
|
|
NM_000532.5(PCCB):c.1091-12C>T
|
|
|
|
NM_000532.5(PCCB):c.1091-14C>T
|
|
|
|
NM_000532.5(PCCB):c.1091-15TC[3]
|
|
|
|
NM_000532.5(PCCB):c.1091-16_1091-14del
|
|
|
|
NM_000532.5(PCCB):c.1091-19A>G
|
|
|
|
NM_000532.5(PCCB):c.1091-1G>A
|
rs2108237784
|
|
|
NM_000532.5(PCCB):c.1091-4C>T
|
rs759283485
|
|
|
NM_000532.5(PCCB):c.1091-6_1091-3del
|
rs767794302
|
|
|
NM_000532.5(PCCB):c.1091-8C>T
|
|
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
|
NM_000532.5(PCCB):c.1091-9T>C
|
|
|
|
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
|
|
|
|
NM_000532.5(PCCB):c.10del (p.Ala4fs)
|
|
|
|
NM_000532.5(PCCB):c.1119A>G (p.Lys373=)
|
rs2108237811
|
|
|
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
|
|
|
|
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
|
rs1576360099
|
|
|
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
|
|
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
|
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
|
|
|
|
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu)
|
rs761529521
|
|
|
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
|
rs761529521
|
|
|
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
|
|
|
|
NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter)
|
|
|
|
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
|
rs1307858265
|
|
|
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
|
|
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
|
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
|
rs2108237867
|
|
|
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
|
rs1303454039
|
|
|
NM_000532.5(PCCB):c.1155T>C (p.Asn385=)
|
|
|
|
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
|
rs1208205672
|
|
|
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
|
|
|
|
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
|
|
|
|
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn)
|
rs2108237886
|
|
|
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
|
|
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
|
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
|
|
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
|
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
|
|
|
|
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs)
|
rs587776758
|
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
|
NM_000532.5(PCCB):c.1182C>T (p.Val394=)
|
|
|
|
NM_000532.5(PCCB):c.1194A>C (p.Leu398=)
|
|
|
|
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
|
rs767647079
|
|
|
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
|
|
|
|
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)
|
rs753037539
|
|
|
NM_000532.5(PCCB):c.1198+12A>G
|
|
|
|
NM_000532.5(PCCB):c.1198+13C>T
|
|
|
|
NM_000532.5(PCCB):c.1198+14A>G
|
|
|
|
NM_000532.5(PCCB):c.1198+14dup
|
|
|
|
NM_000532.5(PCCB):c.1198+17G>A
|
|
|
|
NM_000532.5(PCCB):c.1198+18T>G
|
|
|
|
NM_000532.5(PCCB):c.1198+18dup
|
|
|
|
NM_000532.5(PCCB):c.1198+19G>C
|
|
|
|
NM_000532.5(PCCB):c.1198+19G>T
|
|
|
|
NM_000532.5(PCCB):c.1198+1G>A
|
rs1935333494
|
|
|
NM_000532.5(PCCB):c.1199-15C>G
|
|
|
|
NM_000532.5(PCCB):c.1199-15C>T
|
|
|
|
NM_000532.5(PCCB):c.1199-17C>T
|
|
|
|
NM_000532.5(PCCB):c.1199-18A>G
|
|
|
|
NM_000532.5(PCCB):c.1199-18dup
|
rs2108238321
|
|
|
NM_000532.5(PCCB):c.1199-1G>C
|
|
|
|
NM_000532.5(PCCB):c.1199-20T>G
|
|
|
|
NM_000532.5(PCCB):c.1199-2A>G
|
|
|
|
NM_000532.5(PCCB):c.1199-4C>G
|
|
|
|
NM_000532.5(PCCB):c.1199-5T>C
|
|
|
|
NM_000532.5(PCCB):c.1199-7T>C
|
|
|
|
NM_000532.5(PCCB):c.1199-9C>T
|
|
|
|
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
|
|
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
|
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys)
|
rs371610471
|
|
|
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
|
|
|
|
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
|
|
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
|
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
|
rs2108238365
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
|
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
|
|
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
|
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
|
|
|
|
NM_000532.5(PCCB):c.1228C>A (p.Arg410=)
|
rs121964959
|
|
|
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
|
|
|
|
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp)
|
rs994386938
|
|
|
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
|
rs780048274
|
|
|
NM_000532.5(PCCB):c.1248C>G (p.Leu416=)
|
|
|
|
NM_000532.5(PCCB):c.1248C>T (p.Leu416=)
|
rs747022334
|
|
|
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
|
|
|
|
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
|
|
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
|
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
|
|
|
|
NM_000532.5(PCCB):c.1269T>A (p.Thr423=)
|
rs2108238461
|
|
|
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
|
|
|
|
NM_000532.5(PCCB):c.1275del (p.Val427fs)
|
rs2108238464
|
|
|
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys)
|
rs1031941989
|
|
|
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
|
|
|
|
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs)
|
rs775583360
|
|
|
NM_000532.5(PCCB):c.1287C>A (p.Val429=)
|
rs2108238489
|
|
|
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
|
rs2108238489
|
|
|
NM_000532.5(PCCB):c.1288_1299+5del
|
rs1250541852
|
|
|
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
|
rs1474177341
|
|
|
NM_000532.5(PCCB):c.1299+12A>G
|
rs751610521
|
|
|
NM_000532.5(PCCB):c.1299+19A>C
|
|
|
|
NM_000532.5(PCCB):c.1299+1G>T
|
|
|
|
NM_000532.5(PCCB):c.1299+5G>A
|
|
|
|
NM_000532.5(PCCB):c.1299+7A>T
|
|
|
|
NM_000532.5(PCCB):c.1299+9C>T
|
|
|
|
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
|
|
|
|
NM_000532.5(PCCB):c.12A>C (p.Ala4=)
|
|
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
|
NM_000532.5(PCCB):c.1300-12G>T
|
|
|
|
NM_000532.5(PCCB):c.1300-13G>A
|
rs1320397998
|
|
|
NM_000532.5(PCCB):c.1300-18C>T
|
|
|
|
NM_000532.5(PCCB):c.1300-19G>A
|
|
|
|
NM_000532.5(PCCB):c.1300-1G>A
|
|
|
|
NM_000532.5(PCCB):c.1300-1G>C
|
|
|
|
NM_000532.5(PCCB):c.1300-4T>A
|
rs1935372420
|
|
|
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
|
|
|
|
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly)
|
rs749210374
|
|
|
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
|
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
|
NM_000532.5(PCCB):c.1314C>T (p.Ala438=)
|
|
|
|
NM_000532.5(PCCB):c.1325T>C (p.Met442Thr)
|
|
|
|
NM_000532.5(PCCB):c.1329C>T (p.Ser443=)
|
|
|
|
NM_000532.5(PCCB):c.132G>C (p.Arg44=)
|
|
|
|
NM_000532.5(PCCB):c.132G>T (p.Arg44=)
|
|
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
|
|
|
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
|
|
|
|
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
|
rs1935374974
|
|
|
NM_000532.5(PCCB):c.1351dup (p.Thr451fs)
|
|
|
|
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
|
|
|
|
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys)
|
rs1455298516
|
|
|
NM_000532.5(PCCB):c.1356C>T (p.Asn452=)
|
rs1455298516
|
|
|
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
|
|
|
|
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
|
rs1576397628
|
|
|
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
|
|
|
|
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
|
|
|
|
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
|
|
|
|
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
|
rs2108239069
|
|
|
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs)
|
rs1576397633
|
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
|
NM_000532.5(PCCB):c.1386C>A (p.Val462=)
|
|
|
|
NM_000532.5(PCCB):c.1386C>T (p.Val462=)
|
|
|
|
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
|
rs145075817
|
|
|
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr)
|
rs774232001
|
|
|
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
|
|
|
|
NM_000532.5(PCCB):c.1395_1398+8del
|
|
|
|
NM_000532.5(PCCB):c.1398+11C>G
|
|
|
|
NM_000532.5(PCCB):c.1398+15C>T
|
|
|
|
NM_000532.5(PCCB):c.1398+16T>G
|
|
|
|
NM_000532.5(PCCB):c.1398+18T>C
|
|
|
|
NM_000532.5(PCCB):c.1398+1G>A
|
|
|
|
NM_000532.5(PCCB):c.1398+1G>C
|
|
|
|
NM_000532.5(PCCB):c.1398+2del
|
rs2108239135
|
|
|
NM_000532.5(PCCB):c.1398+3G>A
|
rs767511434
|
|
|
NM_000532.5(PCCB):c.1398+8C>T
|
|
|
|
NM_000532.5(PCCB):c.1398+9C>T
|
rs2108239140
|
|
|
NM_000532.5(PCCB):c.1399-12_1399-10del
|
|
|
|
NM_000532.5(PCCB):c.1399-13C>A
|
|
|
|
NM_000532.5(PCCB):c.1399-20A>G
|
|
|
|
NM_000532.5(PCCB):c.1399-5C>G
|
|
|
|
NM_000532.5(PCCB):c.1399-8A>G
|
|
|
|
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
|
|
|
|
NM_000532.5(PCCB):c.13T>C (p.Leu5=)
|
rs1559991921
|
|
|
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala)
|
rs2108240251
|
|
|
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
|
|
|
|
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
|
|
|
|
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
|
|
|
|
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
|
|
|
|
NM_000532.5(PCCB):c.141G>A (p.Leu47=)
|
rs1378807952
|
|
|
NM_000532.5(PCCB):c.141G>C (p.Leu47=)
|
|
|
|
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
|
|
|
|
NM_000532.5(PCCB):c.1422del (p.His476fs)
|
rs2108240287
|
|
|
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
|
|
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
|
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs)
|
rs1576361811
|
|
|
NM_000532.5(PCCB):c.1446T>C (p.Ala482=)
|
rs1233276940
|
|
|
NM_000532.5(PCCB):c.144G>A (p.Leu48=)
|
|
|
|
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
|
rs1462411928
|
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
|
NM_000532.5(PCCB):c.1461C>T (p.Ile487=)
|
rs778676531
|
|
|
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
|
|
|
|
NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter)
|
|
|
|
NM_000532.5(PCCB):c.1470T>C (p.Phe490=)
|
|
|
|
NM_000532.5(PCCB):c.1473C>G (p.Ala491=)
|
|
|
|
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
|
rs1428860331
|
|
|
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
|
|
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
|
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
|
rs1179000221
|
|
|
NM_000532.5(PCCB):c.1482C>T (p.Phe494=)
|
rs1179000221
|
|
|
NM_000532.5(PCCB):c.1487C>T (p.Ala496Val)
|
|
|
|
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
|
|
|
|
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
|
|
|
|
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
|
|
|
|
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
|
|
|
|
NM_000532.5(PCCB):c.1498+10T>C
|
rs777201996
|
|
|
NM_000532.5(PCCB):c.1498+12T>C
|
|
|
|
NM_000532.5(PCCB):c.1498+12_1498+13del
|
rs770922237
|
|
|
NM_000532.5(PCCB):c.1498+13G>T
|
|
|
|
NM_000532.5(PCCB):c.1498+14G>A
|
|
|
|
NM_000532.5(PCCB):c.1498+15T>C
|
|
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
|
NM_000532.5(PCCB):c.1498+8A>G
|
rs2108240447
|
|
|
NM_000532.5(PCCB):c.1498+9C>T
|
|
|
|
NM_000532.5(PCCB):c.1499-10G>A
|
|
|
|
NM_000532.5(PCCB):c.1499-10G>T
|
|
|
|
NM_000532.5(PCCB):c.1499-19C>T
|
|
|
|
NM_000532.5(PCCB):c.1499-4C>T
|
|
|
|
NM_000532.5(PCCB):c.1499-9C>T
|
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
|
NM_000532.5(PCCB):c.150G>A (p.Gly50=)
|
|
|
|
NM_000532.5(PCCB):c.150G>C (p.Gly50=)
|
|
|
|
NM_000532.5(PCCB):c.150G>T (p.Gly50=)
|
|
|
|
NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn)
|
|
|
|
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
|
rs2108241650
|
|
|
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
|
|
|
|
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
|
|
|
|
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter)
|
rs2108241656
|
|
|
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
|
|
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
|
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
|
|
|
|
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
|
rs1941483338
|
|
|
NM_000532.5(PCCB):c.1530del (p.Thr511fs)
|
|
|
|
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
|
|
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
|
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
|
rs2108241686
|
|
|
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
|
rs2108241686
|
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
|
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
|
rs1337219671
|
|
|
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
|
rs1935481576
|
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
|
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
|
rs2108241717
|
|
|
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
|
|
|
|
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
|
|
|
|
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly)
|
rs1560035695
|
|
|
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg)
|
rs2108241736
|
|
|
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
|
|
|
|
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)
|
rs1935482553
|
|
|
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
|
|
|
|
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
|
|
|
|
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
|
|
|
|
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
|
|
|
|
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly)
|
rs1284814283
|
|
|
NM_000532.5(PCCB):c.159C>T (p.Arg53=)
|
rs776900764
|
|
|
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
|
|
|
|
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
|
|
|
|
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn)
|
rs759733016
|
|
|
NM_000532.5(PCCB):c.1611T>A (p.Ile537=)
|
rs2108241808
|
|
|
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser)
|
rs775930817
|
|
|
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
|
|
|
|
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
|
|
|
|
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr)
|
rs765790211
|
|
|
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
|
|
|
|
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
|
|
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
|
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
|
|
|
|
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
|
rs377681768
|
|
|
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
|
|
|
|
NM_000532.5(PCCB):c.171G>T (p.Ala57=)
|
rs1168077273
|
|
|
NM_000532.5(PCCB):c.172C>T (p.Gln58Ter)
|
|
|
|
NM_000532.5(PCCB):c.174G>A (p.Gln58=)
|
rs1576397701
|
|
|
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn)
|
rs2108128131
|
|
|
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
|
|
|
|
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
|
|
|
|
NM_000532.5(PCCB):c.177C>T (p.His59=)
|
|
|
|
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)
|
rs767965814
|
|
|
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer)
|
rs2108128163
|
|
|
NM_000532.5(PCCB):c.183+11_183+30dup
|
rs1205510892
|
|
|
NM_000532.5(PCCB):c.183+12G>A
|
|
|
|
NM_000532.5(PCCB):c.183+13G>A
|
|
|
|
NM_000532.5(PCCB):c.183+14G>A
|
|
|
|
NM_000532.5(PCCB):c.183+15G>A
|
|
|
|
NM_000532.5(PCCB):c.183+15G>C
|
|
|
|
NM_000532.5(PCCB):c.183+15G>T
|
|
|
|
NM_000532.5(PCCB):c.183+15del
|
|
|
|
NM_000532.5(PCCB):c.183+16C>T
|
|
|
|
NM_000532.5(PCCB):c.183+17C>A
|
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|
|
NM_000532.5(PCCB):c.183+18T>C
|
|
|
|
NM_000532.5(PCCB):c.183+19A>C
|
|
|
|
NM_000532.5(PCCB):c.183+19A>G
|
rs2108128256
|
|
|
NM_000532.5(PCCB):c.183+19_183+22del
|
rs2108128253
|
|
|
NM_000532.5(PCCB):c.183+1G>A
|
rs398123460
|
|
|
NM_000532.5(PCCB):c.183+1G>C
|
|
|
|
NM_000532.5(PCCB):c.183+21_183+46del
|
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
|
NM_000532.5(PCCB):c.183+3_183+6del
|
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
|
NM_000532.5(PCCB):c.183+5G>C
|
|
|
|
NM_000532.5(PCCB):c.183+7C>T
|
rs1039491317
|
|
|
NM_000532.5(PCCB):c.183+8C>T
|
rs780042796
|
|
|
NM_000532.5(PCCB):c.183+9T>C
|
rs2108128200
|
|
|
NM_000532.5(PCCB):c.183+9_183+28del
|
|
|
|
NM_000532.5(PCCB):c.184-12G>A
|
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|
NM_000532.5(PCCB):c.184-16C>T
|
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|
|
NM_000532.5(PCCB):c.184-5T>C
|
|
|
|
NM_000532.5(PCCB):c.184-7A>G
|
rs1941659337
|
|
|
NM_000532.5(PCCB):c.184-7A>T
|
rs1941659337
|
|
|
NM_000532.5(PCCB):c.184-8C>T
|
|
|
|
NM_000532.5(PCCB):c.184-8del
|
|
|
|
NM_000532.5(PCCB):c.184-9C>T
|
rs2108137236
|
|
|
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala)
|
rs886058017
|
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
|
NM_000532.5(PCCB):c.189G>A (p.Lys63=)
|
|
|
|
NM_000532.5(PCCB):c.18G>A (p.Arg6=)
|
|
|
|
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
|
rs2108127702
|
|
|
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
|
rs2108127702
|
|
|
NM_000532.5(PCCB):c.192A>G (p.Leu64=)
|
|
|
|
NM_000532.5(PCCB):c.197C>T (p.Ala66Val)
|
rs2108137275
|
|
|
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
|
|
|
|
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
|
|
|
|
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys)
|
rs2108137296
|
|
|
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
|
|
|
|
NM_000532.5(PCCB):c.210C>T (p.Ile70=)
|
rs1195573163
|
|
|
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
|
|
|
|
NM_000532.5(PCCB):c.216C>A (p.Leu72=)
|
|
|
|
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
|
rs2108137325
|
|
|
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
|
rs1941660630
|
|
|
NM_000532.5(PCCB):c.21G>A (p.Val7=)
|
rs1404763021
|
|
|
NM_000532.5(PCCB):c.21G>C (p.Val7=)
|
rs1404763021
|
|
|
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
|
|
|
|
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr)
|
rs2108137332
|
|
|
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
|
|
|
|
NM_000532.5(PCCB):c.231C>T (p.Gly77=)
|
rs2108137338
|
|
|
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
|
|
|
|
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
|
|
|
|
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
|
|
|
|
NM_000532.5(PCCB):c.249C>T (p.Asp83=)
|
rs1941661486
|
|
|
NM_000532.5(PCCB):c.24G>A (p.Ala8=)
|
|
|
|
NM_000532.5(PCCB):c.261A>G (p.Glu87=)
|
|
|
|
NM_000532.5(PCCB):c.273A>C (p.Ala91=)
|
|
|
|
NM_000532.5(PCCB):c.273A>G (p.Ala91=)
|
|
|
|
NM_000532.5(PCCB):c.274G>C (p.Asp92His)
|
rs2108137411
|
|
|
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
|
|
|
|
NM_000532.5(PCCB):c.27G>C (p.Ala9=)
|
rs1402404407
|
|
|
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
|
|
|
|
NM_000532.5(PCCB):c.283A>G (p.Met95Val)
|
rs1941662476
|
|
|
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala)
|
rs915881293
|
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
|
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
|
rs398123462
|
|
|
NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)
|
|
|
|
NM_000532.5(PCCB):c.303+10C>G
|
|
|
|
NM_000532.5(PCCB):c.303+13A>C
|
|
|
|
NM_000532.5(PCCB):c.303+14T>C
|
|
|
|
NM_000532.5(PCCB):c.303+15G>A
|
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|
|
NM_000532.5(PCCB):c.303+18G>A
|
|
|
|
NM_000532.5(PCCB):c.303+19_303+21del
|
rs1338554743
|
|
|
NM_000532.5(PCCB):c.303+1G>T
|
rs1941662983
|
|
|
NM_000532.5(PCCB):c.303+20T>C
|
|
|
|
NM_000532.5(PCCB):c.303+7G>A
|
rs747794871
|
|
|
NM_000532.5(PCCB):c.303+7G>T
|
|
|
|
NM_000532.5(PCCB):c.304-10T>C
|
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|
|
NM_000532.5(PCCB):c.304-13A>G
|
|
|
|
NM_000532.5(PCCB):c.304-14C>T
|
|
|
|
NM_000532.5(PCCB):c.304-15G>T
|
|
|
|
NM_000532.5(PCCB):c.304-16del
|
|
|
|
NM_000532.5(PCCB):c.304-1G>A
|
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|
|
NM_000532.5(PCCB):c.304-20T>C
|
|
|
|
NM_000532.5(PCCB):c.304-20T>G
|
|
|
|
NM_000532.5(PCCB):c.304-2A>G
|
|
|
|
NM_000532.5(PCCB):c.304-4G>T
|
rs1178341565
|
|
|
NM_000532.5(PCCB):c.304-5G>C
|
rs2108138190
|
|
|
NM_000532.5(PCCB):c.304-6T>C
|
rs1941675458
|
|
|
NM_000532.5(PCCB):c.304-8dup
|
|
|
|
NM_000532.5(PCCB):c.304-9T>C
|
rs772699339
|
|
|
NM_000532.5(PCCB):c.306T>C (p.Phe102=)
|
rs770601332
|
|
|
NM_000532.5(PCCB):c.30C>A (p.Val10=)
|
rs754303318
|
|
|
NM_000532.5(PCCB):c.30C>G (p.Val10=)
|
rs754303318
|
|
|
NM_000532.5(PCCB):c.315C>T (p.Asp105=)
|
|
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
|
NM_000532.5(PCCB):c.321G>A (p.Val107=)
|
|
|
|
NM_000532.5(PCCB):c.324C>G (p.Val108=)
|
|
|
|
NM_000532.5(PCCB):c.327T>C (p.Thr109=)
|
rs2108138226
|
|
|
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser)
|
rs1941676220
|
|
|
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp)
|
rs202247818
|
|
|
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
|
|
|
|
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
|
|
|
|
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser)
|
rs2108138282
|
|
|
NM_000532.5(PCCB):c.349A>G (p.Arg117Gly)
|
|
|
|
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
|
|
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
|
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
|
rs1198278808
|
|
|
NM_000532.5(PCCB):c.363C>A (p.Val121=)
|
|
|
|
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
|
rs1941677490
|
|
|
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
|
|
|
|
NM_000532.5(PCCB):c.372+12C>T
|
|
|
|
NM_000532.5(PCCB):c.372+14C>G
|
|
|
|
NM_000532.5(PCCB):c.372+15C>A
|
|
|
|
NM_000532.5(PCCB):c.372+18T>C
|
|
|
|
NM_000532.5(PCCB):c.372+1G>A
|
|
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
|
NM_000532.5(PCCB):c.372+4T>C
|
|
|
|
NM_000532.5(PCCB):c.373-17T>A
|
|
|
|
NM_000532.5(PCCB):c.373-1G>C
|
rs2108144374
|
|
|
NM_000532.5(PCCB):c.373-5T>C
|
|
|
|
NM_000532.5(PCCB):c.373-8C>G
|
|
|
|
NM_000532.5(PCCB):c.378T>C (p.Phe126=)
|
|
|
|
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
|
|
|
|
NM_000532.5(PCCB):c.384T>G (p.Val128=)
|
rs1169839469
|
|
|
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)
|
rs398123463
|
|
|
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
|
|
|
|
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
|
rs1576405957
|
|
|
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
|
|
|
|
NM_000532.5(PCCB):c.393C>T (p.Gly131=)
|
rs2108144426
|
|
|
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
|
|
|
|
NM_000532.5(PCCB):c.397C>T (p.Leu133=)
|
rs1941791843
|
|
|
NM_000532.5(PCCB):c.399G>A (p.Leu133=)
|
|
|
|
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
|
|
|
|
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
|
|
|
|
NM_000532.5(PCCB):c.408A>T (p.Ala136=)
|
|
|
|
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
|
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
|
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
|
rs781142631
|
|
|
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
|
|
|
|
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
|
|
|
|
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
|
rs1941792521
|
|
|
NM_000532.5(PCCB):c.423C>A (p.Ile141=)
|
rs2108144487
|
|
|
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
|
|
|
|
NM_000532.5(PCCB):c.429+11A>C
|
|
|
|
NM_000532.5(PCCB):c.429+12A>G
|
|
|
|
NM_000532.5(PCCB):c.429+15C>T
|
|
|
|
NM_000532.5(PCCB):c.429+17C>A
|
|
|
|
NM_000532.5(PCCB):c.429+17C>T
|
|
|
|
NM_000532.5(PCCB):c.429+19A>G
|
|
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
|
NM_000532.5(PCCB):c.429+20A>G
|
rs1282306131
|
|
|
NM_000532.5(PCCB):c.429+20A>T
|
|
|
|
NM_000532.5(PCCB):c.429+8T>C
|
rs2108144514
|
|
|
NM_000532.5(PCCB):c.429+9T>G
|
|
|
|
NM_000532.5(PCCB):c.42C>G (p.Leu14=)
|
|
|
|
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
|
rs2108127783
|
|
|
NM_000532.5(PCCB):c.430-12C>T
|
|
|
|
NM_000532.5(PCCB):c.430-13T>G
|
|
|
|
NM_000532.5(PCCB):c.430-14C>A
|
|
|
|
NM_000532.5(PCCB):c.430-14C>G
|
rs1320752306
|
|
|
NM_000532.5(PCCB):c.430-17T>C
|
|
|
|
NM_000532.5(PCCB):c.430-17T>G
|
rs2108146563
|
|
|
NM_000532.5(PCCB):c.430-18A>T
|
|
|
|
NM_000532.5(PCCB):c.430-19G>A
|
|
|
|
NM_000532.5(PCCB):c.430-7G>T
|
|
|
|
NM_000532.5(PCCB):c.430-9C>T
|
|
|
|
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
|
|
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
|
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
|
|
|
|
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
|
|
|
|
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
|
|
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
|
NM_000532.5(PCCB):c.449del (p.Thr150fs)
|
|
|
|
NM_000532.5(PCCB):c.450G>C (p.Thr150=)
|
|
|
|
NM_000532.5(PCCB):c.450G>T (p.Thr150=)
|
|
|
|
NM_000532.5(PCCB):c.453G>A (p.Val151=)
|
|
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
|
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
|
rs2108146658
|
|
|
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
|
|
|
|
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
|
|
|
|
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)
|
rs1559998737
|
|
|
NM_000532.5(PCCB):c.471G>T (p.Gly157=)
|
rs2108146680
|
|
|
NM_000532.5(PCCB):c.472C>G (p.Leu158Val)
|
rs2108146685
|
|
|
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
|
rs2108146690
|
|
|
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys)
|
rs765946213
|
|
|
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
|
|
|
|
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
|
|
|
|
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
|
|
|
|
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
|
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
|
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
|
rs879253815
|
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
|
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
|
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
|
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
|
rs200185747
|
|
|
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
|
rs1941842008
|
|
|
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp)
|
rs1941842177
|
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
|
NM_000532.5(PCCB):c.519G>A (p.Leu173=)
|
rs2108146783
|
|
|
NM_000532.5(PCCB):c.522T>G (p.Ala174=)
|
|
|
|
NM_000532.5(PCCB):c.525C>A (p.Gly175=)
|
|
|
|
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
|
|
|
|
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
|
|
|
|
NM_000532.5(PCCB):c.528T>C (p.Tyr176=)
|
rs2108146812
|
|
|
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)
|
rs769481450
|
|
|
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
|
|
|
|
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
|
|
|
|
NM_000532.5(PCCB):c.541C>T (p.Leu181=)
|
rs991870747
|
|
|
NM_000532.5(PCCB):c.543+10C>G
|
rs2108146841
|
|
|
NM_000532.5(PCCB):c.543+11T>C
|
|
|
|
NM_000532.5(PCCB):c.543+17T>C
|
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|
|
NM_000532.5(PCCB):c.543+17T>G
|
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|
|
NM_000532.5(PCCB):c.543+19G>C
|
|
|
|
NM_000532.5(PCCB):c.543+1G>A
|
rs2108146835
|
|
|
NM_000532.5(PCCB):c.543+1G>C
|
|
|
|
NM_000532.5(PCCB):c.543+8A>G
|
|
|
|
NM_000532.5(PCCB):c.544-10G>C
|
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|
|
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr)
|
rs2108181825
|
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
|
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
|
rs369612150
|
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
|
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
|
|
|
|
NM_000532.5(PCCB):c.565G>A (p.Val189Ile)
|
rs2108181880
|
|
|
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
|
|
|
|
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu)
|
rs1212475120
|
|
|
NM_000532.5(PCCB):c.579T>A (p.Ile193=)
|
rs2108181900
|
|
|
NM_000532.5(PCCB):c.57C>T (p.Ser19=)
|
rs1196995378
|
|
|
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
|
|
|
|
NM_000532.5(PCCB):c.585G>C (p.Leu195=)
|
|
|
|
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
|
|
|
|
NM_000532.5(PCCB):c.588C>G (p.Ile196Met)
|
|
|
|
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)
|
rs777726717
|
|
|
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
|
|
|
|
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
|
|
|
|
NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
|
|
|
|
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
|
rs1933215700
|
|
|
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
|
|
|
|
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
|
rs773799305
|
|
|
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
|
|
|
|
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
|
|
|
|
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
|
|
|
|
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
|
rs759098964
|
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
|
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
|
rs201054265
|
|
|
NM_000532.5(PCCB):c.614T>A (p.Val205Asp)
|
rs1303129574
|
|
|
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
|
|
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
|
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
|
rs2108182082
|
|
|
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
|
|
|
|
NM_000532.5(PCCB):c.637_641del (p.Phe213fs)
|
|
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
|
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg)
|
rs375740942
|
|
|
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
|
rs148056730
|
|
|
NM_000532.5(PCCB):c.649G>A (p.Val217Ile)
|
rs2108182134
|
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
|
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
|
|
|
|
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
|
|
|
|
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
|
|
|
|
NM_000532.5(PCCB):c.654+12G>C
|
|
|
|
NM_000532.5(PCCB):c.654+13G>A
|
|
|
|
NM_000532.5(PCCB):c.654+14del
|
rs748846212
|
|
|
NM_000532.5(PCCB):c.654+16C>A
|
|
|
|
NM_000532.5(PCCB):c.654+17T>C
|
|
|
|
NM_000532.5(PCCB):c.654+18G>A
|
|
|
|
NM_000532.5(PCCB):c.654+19T>C
|
|
|
|
NM_000532.5(PCCB):c.654+462A>G
|
rs1576327011
|
|
|
NM_000532.5(PCCB):c.654+8A>T
|
rs2108182157
|
|
|
NM_000532.5(PCCB):c.655-12C>G
|
|
|
|
NM_000532.5(PCCB):c.655-18G>A
|
|
|
|
NM_000532.5(PCCB):c.655-20C>G
|
|
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
|
NM_000532.5(PCCB):c.655-3C>G
|
|
|
|
NM_000532.5(PCCB):c.655-7del
|
|
|
|
NM_000532.5(PCCB):c.655-8T>C
|
|
|
|
NM_000532.5(PCCB):c.655-8dup
|
|
|
|
NM_000532.5(PCCB):c.655-9T>C
|
|
|
|
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
|
rs771455499
|
|
|
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
|
rs1290994455
|
|
|
NM_000532.5(PCCB):c.672C>T (p.Phe224=)
|
|
|
|
NM_000532.5(PCCB):c.675C>T (p.Ile225=)
|
rs2108197231
|
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
|
NM_000532.5(PCCB):c.683del (p.Pro228fs)
|
rs2108197244
|
|
|
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
|
|
|
|
NM_000532.5(PCCB):c.693G>T (p.Val231=)
|
|
|
|
NM_000532.5(PCCB):c.69C>G (p.Ala23=)
|
|
|
|
NM_000532.5(PCCB):c.69C>T (p.Ala23=)
|
|
|
|
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
|
rs769835356
|
|
|
NM_000532.5(PCCB):c.6G>C (p.Ala2=)
|
|
|
|
NM_000532.5(PCCB):c.702C>G (p.Val234=)
|
|
|
|
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
|
|
|
|
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
|
|
|
|
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
|
|
|
|
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
|
|
|
|
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
|
|
|
|
NM_000532.5(PCCB):c.72G>A (p.Ala24=)
|
rs1389353704
|
|
|
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
|
rs1389353704
|
|
|
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
|
|
|
|
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
|
|
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
|
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
|
|
|
|
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
|
rs2108197348
|
|
|
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
|
|
|
|
NM_000532.5(PCCB):c.73del (p.Val25fs)
|
|
|
|
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
|
|
|
|
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
|
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
|
NM_000532.5(PCCB):c.750C>T (p.His250=)
|
rs1255224715
|
|
|
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
|
|
|
|
NM_000532.5(PCCB):c.751_752del (p.Thr251fs)
|
rs2108197377
|
|
|
NM_000532.5(PCCB):c.753C>T (p.Thr251=)
|
rs2108197383
|
|
|
NM_000532.5(PCCB):c.756_758del (p.Met253del)
|
|
|
|
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
|
|
|
|
NM_000532.5(PCCB):c.763+12dup
|
|
|
|
NM_000532.5(PCCB):c.763+16G>A
|
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
|
NM_000532.5(PCCB):c.763+7G>A
|
|
|
|
NM_000532.5(PCCB):c.763+8G>A
|
rs2108197414
|
|
|
NM_000532.5(PCCB):c.763+8G>C
|
rs2108197414
|
|
|
NM_000532.5(PCCB):c.764-10G>A
|
|
|
|
NM_000532.5(PCCB):c.764-10G>C
|
rs372617301
|
|
|
NM_000532.5(PCCB):c.764-11del
|
|
|
|
NM_000532.5(PCCB):c.764-14C>T
|
|
|
|
NM_000532.5(PCCB):c.764-16C>T
|
|
|
|
NM_000532.5(PCCB):c.764-17G>T
|
|
|
|
NM_000532.5(PCCB):c.764-18T>G
|
|
|
|
NM_000532.5(PCCB):c.764-5C>A
|
rs1934010592
|
|
|
NM_000532.5(PCCB):c.764-7C>A
|
|
|
|
NM_000532.5(PCCB):c.764-7C>T
|
|
|
|
NM_000532.5(PCCB):c.765T>C (p.Gly255=)
|
rs2108202688
|
|
|
NM_000532.5(PCCB):c.768G>A (p.Val256=)
|
rs2108202690
|
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
|
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
|
rs1941479615
|
|
|
NM_000532.5(PCCB):c.774C>T (p.His258=)
|
rs141615209
|
|
|
NM_000532.5(PCCB):c.77_183+30delinsCC
|
|
|
|
NM_000532.5(PCCB):c.780T>G (p.Ala260=)
|
|
|
|
NM_000532.5(PCCB):c.786A>G (p.Glu262=)
|
|
|
|
NM_000532.5(PCCB):c.78C>A (p.Arg26=)
|
|
|
|
NM_000532.5(PCCB):c.78C>T (p.Arg26=)
|
|
|
|
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
|
rs1560017781
|
|
|
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
|
|
|
|
NM_000532.5(PCCB):c.797A>T (p.Asp266Val)
|
|
|
|
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
|
|
|
|
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
|
|
|
|
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser)
|
rs1234137372
|
|
|
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
|
|
|
|
NM_000532.5(PCCB):c.813C>A (p.Leu271=)
|
|
|
|
NM_000532.5(PCCB):c.814C>A (p.Arg272=)
|
|
|
|
NM_000532.5(PCCB):c.816G>A (p.Arg272=)
|
|
|
|
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
|
rs762223074
|
|
|
NM_000532.5(PCCB):c.816G>T (p.Arg272=)
|
|
|
|
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
|
|
|
|
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
|
|
|
|
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
|
|
|
|
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
|
|
|
|
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
|
|
|
|
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
|
|
|
|
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
|
|
|
|
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe)
|
rs2108202806
|
|
|
NM_000532.5(PCCB):c.831C>T (p.Tyr277=)
|
|
|
|
NM_000532.5(PCCB):c.834G>A (p.Leu278=)
|
|
|
|
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
|
|
|
|
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
|
rs780837200
|
|
|
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
|
|
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
|
NM_000532.5(PCCB):c.840G>A (p.Leu280=)
|
rs1934015229
|
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
|
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
|
rs1298793935
|
|
|
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
|
|
|
|
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
|
rs779786032
|
|
|
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
|
rs779786032
|
|
|
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
|
rs201984177
|
|
|
NM_000532.5(PCCB):c.864C>A (p.Val288=)
|
rs1934016889
|
|
|
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser)
|
rs771935604
|
|
|
NM_000532.5(PCCB):c.866G>A (p.Arg289His)
|
rs532142254
|
|
|
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
|
|
|
|
NM_000532.5(PCCB):c.875A>G (p.His292Arg)
|
rs2108202909
|
|
|
NM_000532.5(PCCB):c.876C>T (p.His292=)
|
rs776893713
|
|
|
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)
|
rs183013046
|
|
|
NM_000532.5(PCCB):c.884+10A>G
|
rs2108202951
|
|
|
NM_000532.5(PCCB):c.884+11G>A
|
|
|
|
NM_000532.5(PCCB):c.884+14C>A
|
|
|
|
NM_000532.5(PCCB):c.884+16dup
|
|
|
|
NM_000532.5(PCCB):c.884+19C>G
|
|
|
|
NM_000532.5(PCCB):c.884+20A>G
|
|
|
|
NM_000532.5(PCCB):c.884+8G>A
|
rs187345727
|
|
|
NM_000532.5(PCCB):c.884+8G>T
|
rs187345727
|
|
|
NM_000532.5(PCCB):c.885-11dup
|
|
|
|
NM_000532.5(PCCB):c.885-17C>G
|
|
|
|
NM_000532.5(PCCB):c.885-17del
|
|
|
|
NM_000532.5(PCCB):c.885-18C>T
|
rs1482092717
|
|
|
NM_000532.5(PCCB):c.885-3A>C
|
|
|
|
NM_000532.5(PCCB):c.885-6C>G
|
|
|
|
NM_000532.5(PCCB):c.885-6C>T
|
|
|
|
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
|
|
|
|
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu)
|
rs147379583
|
|
|
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
|
|
|
|
NM_000532.5(PCCB):c.894G>A (p.Leu298=)
|
rs746964439
|
|
|
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
|
rs778118663
|
|
|
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
|
|
|
|
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
|
|
|
|
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
|
rs1934256655
|
|
|
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
|
rs776005016
|
|
|
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe)
|
rs2108127897
|
|
|
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser)
|
rs148578333
|
|
|
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
|
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
|
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
|
|
|
|
NM_000532.5(PCCB):c.951G>A (p.Val317=)
|
rs1366112071
|
|
|
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
|
|
|
|
NM_000532.5(PCCB):c.957C>G (p.Ile319Met)
|
rs868483670
|
|
|
NM_000532.5(PCCB):c.957C>T (p.Ile319=)
|
rs868483670
|
|
|
NM_000532.5(PCCB):c.95C>T (p.Ala32Val)
|
rs2108127907
|
|
|
NM_000532.5(PCCB):c.963C>T (p.His321=)
|
rs754807564
|
|
|
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
|
rs1034824113
|
|
|
NM_000532.5(PCCB):c.966+10A>G
|
rs2108208861
|
|
|
NM_000532.5(PCCB):c.966+13T>C
|
|
|
|
NM_000532.5(PCCB):c.966+15T>C
|
|
|
|
NM_000532.5(PCCB):c.966+18T>A
|
|
|
|
NM_000532.5(PCCB):c.966+18T>C
|
rs756231828
|
|
|
NM_000532.5(PCCB):c.966+18_966+21del
|
|
|
|
NM_000532.5(PCCB):c.966+19T>C
|
rs1472403904
|
|
|
NM_000532.5(PCCB):c.966+20G>T
|
|
|
|
NM_000532.5(PCCB):c.966+5G>A
|
rs1255284441
|
|
|
NM_000532.5(PCCB):c.966+8C>T
|
|
|
|
NM_000532.5(PCCB):c.967-10A>T
|
|
|
|
NM_000532.5(PCCB):c.967-18G>A
|
rs2108226497
|
|
|
NM_000532.5(PCCB):c.967-4G>T
|
rs2108226511
|
|
|
NM_000532.5(PCCB):c.967-5T>G
|
rs1934917985
|
|
|
NM_000532.5(PCCB):c.967-7C>G
|
|
|
|
NM_000532.5(PCCB):c.967-7C>T
|
|
|
|
NM_000532.5(PCCB):c.967-8dup
|
|
|
|
NM_000532.5(PCCB):c.96C>A (p.Ala32=)
|
rs2108127912
|
|
|
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
|
rs2108127912
|
|
|
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)
|
rs796052023
|
|
|
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
|
|
|
|
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
|
|
|
|
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
|
|
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
|
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)
|
rs2108226567
|
|
|
NM_000532.5(PCCB):c.99C>G (p.Thr33=)
|
|
|
|
NM_000532.5(PCCB):c.99C>T (p.Thr33=)
|
|
|
|
NM_000532.5(PCCB):c.9G>A (p.Ala3=)
|
rs763025114
|
|
|
NM_000532.5(PCCB):c.9G>C (p.Ala3=)
|
rs763025114
|
|
|
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
|
rs1599947052
|
|
|
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)
|
rs2151453936
|
|
|
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=)
|
rs1389252296
|
|
|
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)
|
rs1131691498
|
|
|
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)
|
rs376153659
|
|
|
NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=)
|
rs376153659
|
|
|
NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=)
|
|
|
|
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)
|
rs899144976
|
|
|
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)
|
rs899144976
|
|
|
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)
|
rs1567702985
|
|
|
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)
|
|
|
|
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
|
rs761084443
|
|
|
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)
|
|
|
|
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)
|
rs387907120
|
|
|
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=)
|
rs374451559
|
|
|
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
|
rs150487794
|
|
|
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)
|
rs749101905
|
|
|
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)
|
rs749101905
|
|
|
NM_001243279.3(ACSF3):c.108A>G (p.Pro36=)
|
|
|
|
NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=)
|
rs1156341271
|
|
|
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)
|
rs775808630
|
|
|
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=)
|
rs775808630
|
|
|
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)
|
rs775808630
|
|
|
NM_001243279.3(ACSF3):c.1104del (p.Thr369fs)
|
rs769183050
|
|
|
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)
|
rs750959933
|
|
|
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)
|
|
|
|
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
|
|
|
|
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)
|
rs2151454690
|
|
|
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)
|
rs2151454775
|
|
|
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)
|
rs144907664
|
|
|
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=)
|
rs2151454814
|
|
|
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)
|
|
|
|
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
|
rs1904713918
|
|
|
NM_001243279.3(ACSF3):c.1126+10C>T
|
rs2151454938
|
|
|
NM_001243279.3(ACSF3):c.1126+18A>C
|
|
|
|
NM_001243279.3(ACSF3):c.1126+1G>A
|
rs916461556
|
|
|
NM_001243279.3(ACSF3):c.1126+5G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1126+5G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1127-12C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1127-12C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1127-14C>A
|
|
|
|
NM_001243279.3(ACSF3):c.1127-14C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1127-18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1127-2A>T
|
|
|
|
NM_001243279.3(ACSF3):c.1127-4G>A
|
rs1327850217
|
|
|
NM_001243279.3(ACSF3):c.1127-7C>A
|
rs761564953
|
|
|
NM_001243279.3(ACSF3):c.1127-9C>T
|
rs536593488
|
|
|
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=)
|
rs138395741
|
|
|
NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=)
|
|
|
|
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=)
|
|
|
|
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=)
|
|
|
|
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)
|
rs2151478873
|
|
|
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=)
|
rs2151405382
|
|
|
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs)
|
rs2151478908
|
|
|
NM_001243279.3(ACSF3):c.1183del (p.Gln395fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=)
|
rs1378994162
|
|
|
NM_001243279.3(ACSF3):c.1189del (p.Glu397fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=)
|
rs371890371
|
|
|
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=)
|
|
|
|
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=)
|
|
|
|
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=)
|
rs1906478952
|
|
|
NM_001243279.3(ACSF3):c.120G>C (p.Ser40=)
|
|
|
|
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=)
|
|
|
|
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
|
rs1047268029
|
|
|
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)
|
rs781247397
|
|
|
NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=)
|
rs2151479090
|
|
|
NM_001243279.3(ACSF3):c.1231_1239+9del
|
|
|
|
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)
|
rs2151479113
|
|
|
NM_001243279.3(ACSF3):c.1239+10T>C
|
rs2151479176
|
|
|
NM_001243279.3(ACSF3):c.1239+11C>A
|
|
|
|
NM_001243279.3(ACSF3):c.1239+11C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1239+13G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1239+14C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1239+19G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1239+20G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1239+7C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1239+8A>T
|
rs746314037
|
|
|
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)
|
rs901883302
|
|
|
NM_001243279.3(ACSF3):c.1240-11A>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-15C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1240-17T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1240-19T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-1G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-20A>G
|
|
|
|
NM_001243279.3(ACSF3):c.1240-6C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1240-7T>G
|
|
|
|
NM_001243279.3(ACSF3):c.1240-8C>T
|
rs1598040505
|
|
|
NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=)
|
|
|
|
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)
|
rs3743984
|
|
|
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)
|
rs760524726
|
|
|
NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=)
|
rs2151520849
|
|
|
NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=)
|
|
|
|
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
|
rs775794698
|
|
|
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
|
|
|
|
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)
|
rs1237151757
|
|
|
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=)
|
|
|
|
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
|
rs764608253
|
|
|
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)
|
rs2151521008
|
|
|
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)
|
rs137995833
|
|
|
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=)
|
rs375414491
|
|
|
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
|
rs1909702747
|
|
|
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=)
|
rs998246075
|
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
|
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)
|
rs1444580425
|
|
|
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=)
|
rs2151521187
|
|
|
NM_001243279.3(ACSF3):c.134del (p.Pro45fs)
|
rs2151405469
|
|
|
NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=)
|
|
|
|
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=)
|
rs775551806
|
|
|
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)
|
rs775551806
|
|
|
NM_001243279.3(ACSF3):c.1366+11G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1366+11_1366+16del
|
|
|
|
NM_001243279.3(ACSF3):c.1366+15C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1366+16A>G
|
|
|
|
NM_001243279.3(ACSF3):c.1366+17T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1366+1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1366+9C>G
|
rs2151521275
|
|
|
NM_001243279.3(ACSF3):c.1366+9C>T
|
rs2151521275
|
|
|
NM_001243279.3(ACSF3):c.1367-11C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1367-13C>A
|
|
|
|
NM_001243279.3(ACSF3):c.1367-13C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1367-15G>T
|
|
|
|
NM_001243279.3(ACSF3):c.1367-18A>G
|
|
|
|
NM_001243279.3(ACSF3):c.1367-2_1367-1del
|
|
|
|
NM_001243279.3(ACSF3):c.1367-36_1367-7del
|
rs2151562216
|
|
|
NM_001243279.3(ACSF3):c.1367-4T>A
|
rs2151562350
|
|
|
NM_001243279.3(ACSF3):c.1367-8T>A
|
|
|
|
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)
|
rs2151562365
|
|
|
NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=)
|
rs2151562365
|
|
|
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)
|
rs751342087
|
|
|
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)
|
rs554032555
|
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
|
NM_001243279.3(ACSF3):c.138G>A (p.Val46=)
|
rs1597887201
|
|
|
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)
|
rs200661983
|
|
|
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)
|
rs1451312853
|
|
|
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
|
rs1912700120
|
|
|
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
|
|
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
|
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=)
|
rs1912703262
|
|
|
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
|
rs1912702795
|
|
|
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=)
|
rs1912704218
|
|
|
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=)
|
rs1912704218
|
|
|
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=)
|
|
|
|
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=)
|
|
|
|
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=)
|
|
|
|
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=)
|
|
|
|
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=)
|
rs2151405540
|
|
|
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=)
|
rs2151562576
|
|
|
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=)
|
|
|
|
NM_001243279.3(ACSF3):c.1437T>C (p.Thr479=)
|
|
|
|
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=)
|
rs2151562625
|
|
|
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=)
|
|
|
|
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)
|
rs1064793662
|
|
|
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)
|
rs2151562665
|
|
|
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)
|
rs377487769
|
|
|
NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=)
|
|
|
|
NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=)
|
|
|
|
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
|
rs377596983
|
|
|
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)
|
rs115776284
|
|
|
NM_001243279.3(ACSF3):c.1469A>T (p.Glu490Val)
|
|
|
|
NM_001243279.3(ACSF3):c.1476C>T (p.His492=)
|
rs1348371629
|
|
|
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)
|
rs2151405575
|
|
|
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=)
|
|
|
|
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=)
|
rs2151562831
|
|
|
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)
|
rs2151562831
|
|
|
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
|
|
|
|
NM_001243279.3(ACSF3):c.1501+12G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1501+18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1501+1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1501+1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.1501+20C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1501+4C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1502-11_1502-9del
|
rs147884845
|
|
|
NM_001243279.3(ACSF3):c.1502-13C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1502-1G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1502-20A>G
|
|
|
|
NM_001243279.3(ACSF3):c.1502-6C>A
|
|
|
|
NM_001243279.3(ACSF3):c.1502-8A>C
|
|
|
|
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=)
|
|
|
|
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)
|
|
|
|
NM_001243279.3(ACSF3):c.1523C>T (p.Pro508Leu)
|
|
|
|
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=)
|
|
|
|
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=)
|
|
|
|
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)
|
rs1012271385
|
|
|
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)
|
rs1450563045
|
|
|
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=)
|
rs746953848
|
|
|
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=)
|
|
|
|
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=)
|
|
|
|
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
|
|
|
|
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
|
rs745684193
|
|
|
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=)
|
|
|
|
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=)
|
|
|
|
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=)
|
|
|
|
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
|
rs767958353
|
|
|
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)
|
rs753356664
|
|
|
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)
|
rs778486871
|
|
|
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)
|
rs778486871
|
|
|
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)
|
rs1912883419
|
|
|
NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=)
|
|
|
|
NM_001243279.3(ACSF3):c.159T>C (p.Phe53=)
|
|
|
|
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
|
|
|
|
NM_001243279.3(ACSF3):c.1602del (p.Glu535fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
|
rs1350227206
|
|
|
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
|
rs779820462
|
|
|
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)
|
rs779820462
|
|
|
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)
|
rs1912887899
|
|
|
NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=)
|
|
|
|
NM_001243279.3(ACSF3):c.1613+16del
|
|
|
|
NM_001243279.3(ACSF3):c.1613+17C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1613+18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1613+20G>T
|
|
|
|
NM_001243279.3(ACSF3):c.1613+2T>C
|
rs2151564932
|
|
|
NM_001243279.3(ACSF3):c.1613+7C>T
|
rs1179755069
|
|
|
NM_001243279.3(ACSF3):c.1613+9G>T
|
rs974191447
|
|
|
NM_001243279.3(ACSF3):c.1614-16G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1614-19G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1614-7T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1614-8C>G
|
rs375091095
|
|
|
NM_001243279.3(ACSF3):c.1614-8C>T
|
rs375091095
|
|
|
NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=)
|
|
|
|
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)
|
rs570670205
|
|
|
NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=)
|
rs146779456
|
|
|
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)
|
rs1914445437
|
|
|
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=)
|
|
|
|
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=)
|
|
|
|
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=)
|
|
|
|
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter)
|
rs139520739
|
|
|
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=)
|
|
|
|
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=)
|
rs1597281839
|
|
|
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=)
|
|
|
|
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=)
|
|
|
|
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=)
|
rs1245847525
|
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
|
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)
|
rs767036317
|
|
|
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)
|
rs2151586215
|
|
|
NM_001243279.3(ACSF3):c.16del (p.Val6fs)
|
rs1338859307
|
|
|
NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)
|
|
|
|
NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=)
|
|
|
|
NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=)
|
|
|
|
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)
|
rs753754672
|
|
|
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)
|
rs1448355025
|
|
|
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.1716C>T (p.His572=)
|
|
|
|
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=)
|
rs1914461577
|
|
|
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1724C>A (p.Pro575His)
|
|
|
|
NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=)
|
|
|
|
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)
|
rs1914464370
|
|
|
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)
|
rs2151586302
|
|
|
NM_001243279.3(ACSF3):c.177G>A (p.Leu59=)
|
|
|
|
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
|
rs1776373606
|
|
|
NM_001243279.3(ACSF3):c.192C>T (p.Gly64=)
|
|
|
|
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
|
|
|
|
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
|
|
|
|
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)
|
rs1405537973
|
|
|
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)
|
rs1975219207
|
|
|
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.220dup (p.Arg74fs)
|
|
|
|
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=)
|
|
|
|
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=)
|
rs2151406106
|
|
|
NM_001243279.3(ACSF3):c.238del (p.Gln80fs)
|
|
|
|
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)
|
|
|
|
NM_001243279.3(ACSF3):c.24C>T (p.Thr8=)
|
|
|
|
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
|
rs373476048
|
|
|
NM_001243279.3(ACSF3):c.252G>A (p.Arg84=)
|
|
|
|
NM_001243279.3(ACSF3):c.255C>G (p.Leu85=)
|
|
|
|
NM_001243279.3(ACSF3):c.255C>T (p.Leu85=)
|
|
|
|
NM_001243279.3(ACSF3):c.261G>C (p.Gly87=)
|
|
|
|
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
|
rs775569136
|
|
|
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.27C>T (p.Phe9=)
|
|
|
|
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)
|
rs530503915
|
|
|
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=)
|
rs2151406487
|
|
|
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
|
rs1975233179
|
|
|
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
|
rs1299639090
|
|
|
NM_001243279.3(ACSF3):c.294C>T (p.Val98=)
|
|
|
|
NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs)
|
|
|
|
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=)
|
rs59213357
|
|
|
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=)
|
|
|
|
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)
|
rs2151406892
|
|
|
NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer)
|
|
|
|
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
|
|
|
|
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)
|
rs781163359
|
|
|
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=)
|
|
|
|
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)
|
rs1267933456
|
|
|
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)
|
|
|
|
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=)
|
|
|
|
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=)
|
rs6500527
|
|
|
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)
|
rs1446396475
|
|
|
NM_001243279.3(ACSF3):c.358G>T (p.Gly120Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.363G>A (p.Val121=)
|
|
|
|
NM_001243279.3(ACSF3):c.369C>G (p.Val123=)
|
rs6500529
|
|
|
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)
|
|
|
|
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)
|
rs1292276846
|
|
|
NM_001243279.3(ACSF3):c.390C>G (p.Pro130=)
|
rs368192538
|
|
|
NM_001243279.3(ACSF3):c.396C>A (p.Ala132=)
|
|
|
|
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)
|
rs370968781
|
|
|
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)
|
rs370968781
|
|
|
NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs)
|
|
|
|
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
|
rs1313088429
|
|
|
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
|
|
|
|
NM_001243279.3(ACSF3):c.423C>G (p.Ser141=)
|
|
|
|
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
|
|
|
|
NM_001243279.3(ACSF3):c.435G>A (p.Val145=)
|
rs759185741
|
|
|
NM_001243279.3(ACSF3):c.438C>T (p.Val146=)
|
rs1381436509
|
|
|
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)
|
rs1373108224
|
|
|
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.453G>A (p.Glu151=)
|
|
|
|
NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=)
|
rs147899198
|
|
|
NM_001243279.3(ACSF3):c.45C>T (p.Ala15=)
|
|
|
|
NM_001243279.3(ACSF3):c.468G>A (p.Leu156=)
|
|
|
|
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
|
|
|
|
NM_001243279.3(ACSF3):c.474G>C (p.Pro158=)
|
|
|
|
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)
|
rs757199694
|
|
|
NM_001243279.3(ACSF3):c.477G>C (p.Val159=)
|
|
|
|
NM_001243279.3(ACSF3):c.481A>C (p.Arg161=)
|
rs758530787
|
|
|
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)
|
rs2151408219
|
|
|
NM_001243279.3(ACSF3):c.495C>T (p.Val165=)
|
|
|
|
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=)
|
|
|
|
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)
|
rs748625786
|
|
|
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
|
|
|
|
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=)
|
|
|
|
NM_001243279.3(ACSF3):c.501G>T (p.Leu167=)
|
|
|
|
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)
|
rs1403364770
|
|
|
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)
|
rs7201122
|
|
|
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)
|
rs7201122
|
|
|
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
|
|
|
|
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)
|
rs866824182
|
|
|
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)
|
rs1567685421
|
|
|
NM_001243279.3(ACSF3):c.549A>G (p.Ala183=)
|
|
|
|
NM_001243279.3(ACSF3):c.54C>T (p.Ser18=)
|
rs2151405049
|
|
|
NM_001243279.3(ACSF3):c.555C>G (p.Val185=)
|
rs1260446910
|
|
|
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)
|
rs376098216
|
|
|
NM_001243279.3(ACSF3):c.558G>C (p.Pro186=)
|
|
|
|
NM_001243279.3(ACSF3):c.573A>G (p.Gly191=)
|
rs1307415970
|
|
|
NM_001243279.3(ACSF3):c.573A>T (p.Gly191=)
|
rs1307415970
|
|
|
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=)
|
rs528237336
|
|
|
NM_001243279.3(ACSF3):c.582C>T (p.Asn194=)
|
|
|
|
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)
|
rs1366314967
|
|
|
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)
|
rs2151409119
|
|
|
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
|
|
|
|
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=)
|
rs1259550164
|
|
|
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=)
|
|
|
|
NM_001243279.3(ACSF3):c.606C>T (p.Thr202=)
|
|
|
|
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=)
|
|
|
|
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)
|
rs1555560476
|
|
|
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=)
|
rs1555560476
|
|
|
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=)
|
|
|
|
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=)
|
rs753012038
|
|
|
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=)
|
rs753012038
|
|
|
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
|
|
|
|
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=)
|
|
|
|
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
|
rs1567685802
|
|
|
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)
|
rs772996642
|
|
|
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=)
|
|
|
|
NM_001243279.3(ACSF3):c.666+10G>A
|
rs752914229
|
|
|
NM_001243279.3(ACSF3):c.666+10G>C
|
|
|
|
NM_001243279.3(ACSF3):c.666+10G>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+12C>A
|
|
|
|
NM_001243279.3(ACSF3):c.666+12C>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+16C>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+17G>A
|
|
|
|
NM_001243279.3(ACSF3):c.666+19C>G
|
|
|
|
NM_001243279.3(ACSF3):c.666+19C>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.667-10T>C
|
|
|
|
NM_001243279.3(ACSF3):c.667-11G>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-14C>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-14C>T
|
|
|
|
NM_001243279.3(ACSF3):c.667-19G>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.667-2A>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-4G>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-6C>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-9C>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-9C>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
|
NM_001243279.3(ACSF3):c.669G>A (p.Val223=)
|
rs772127402
|
|
|
NM_001243279.3(ACSF3):c.669G>T (p.Val223=)
|
rs772127402
|
|
|
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)
|
rs751461445
|
|
|
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
|
|
|
|
NM_001243279.3(ACSF3):c.675del (p.Leu226fs)
|
rs1597898076
|
|
|
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)
|
rs1597898108
|
|
|
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
|
rs1432097143
|
|
|
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
|
rs765454020
|
|
|
NM_001243279.3(ACSF3):c.693A>G (p.Ala231=)
|
|
|
|
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=)
|
|
|
|
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
|
|
|
|
NM_001243279.3(ACSF3):c.714C>T (p.Ile238=)
|
|
|
|
NM_001243279.3(ACSF3):c.723G>A (p.Val241=)
|
rs1597898369
|
|
|
NM_001243279.3(ACSF3):c.723G>T (p.Val241=)
|
|
|
|
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
|
rs768799062
|
|
|
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)
|
rs768799062
|
|
|
NM_001243279.3(ACSF3):c.72G>C (p.Ala24=)
|
rs752720474
|
|
|
NM_001243279.3(ACSF3):c.732G>C (p.Leu244=)
|
|
|
|
NM_001243279.3(ACSF3):c.735C>T (p.His245=)
|
rs1397465454
|
|
|
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.747T>C (p.Gly249=)
|
rs1419853894
|
|
|
NM_001243279.3(ACSF3):c.750G>T (p.Val250=)
|
rs1045898328
|
|
|
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
|
|
|
|
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
|
|
|
|
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
|
|
|
|
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
|
rs1975494455
|
|
|
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
|
|
|
|
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)
|
rs765643653
|
|
|
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)
|
rs931176162
|
|
|
NM_001243279.3(ACSF3):c.762G>A (p.Leu254=)
|
rs2151416739
|
|
|
NM_001243279.3(ACSF3):c.765C>G (p.Leu255=)
|
|
|
|
NM_001243279.3(ACSF3):c.765C>T (p.Leu255=)
|
rs750139721
|
|
|
NM_001243279.3(ACSF3):c.771T>A (p.Pro257=)
|
|
|
|
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
|
rs1277612080
|
|
|
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)
|
rs2151416786
|
|
|
NM_001243279.3(ACSF3):c.789C>G (p.Thr263=)
|
|
|
|
NM_001243279.3(ACSF3):c.792T>C (p.Cys264=)
|
rs2151416808
|
|
|
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
|
|
|
|
NM_001243279.3(ACSF3):c.79A>C (p.Arg27=)
|
|
|
|
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
|
rs767946490
|
|
|
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=)
|
|
|
|
NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs)
|
|
|
|
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
|
rs2151416957
|
|
|
NM_001243279.3(ACSF3):c.822+10G>A
|
|
|
|
NM_001243279.3(ACSF3):c.822+10G>C
|
rs771232327
|
|
|
NM_001243279.3(ACSF3):c.822+12_822+61del
|
|
|
|
NM_001243279.3(ACSF3):c.822+12dup
|
|
|
|
NM_001243279.3(ACSF3):c.822+15G>A
|
|
|
|
NM_001243279.3(ACSF3):c.822+16G>C
|
|
|
|
NM_001243279.3(ACSF3):c.822+17G>A
|
|
|
|
NM_001243279.3(ACSF3):c.822+1G>A
|
rs2151416991
|
|
|
NM_001243279.3(ACSF3):c.822+2T>C
|
rs1975502704
|
|
|
NM_001243279.3(ACSF3):c.822+9G>C
|
|
|
|
NM_001243279.3(ACSF3):c.823-17C>G
|
|
|
|
NM_001243279.3(ACSF3):c.823-18G>T
|
|
|
|
NM_001243279.3(ACSF3):c.823-19T>C
|
|
|
|
NM_001243279.3(ACSF3):c.823-1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.823-4G>A
|
rs558325262
|
|
|
NM_001243279.3(ACSF3):c.823-7T>A
|
|
|
|
NM_001243279.3(ACSF3):c.823-8C>G
|
rs776024101
|
|
|
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)
|
rs570233664
|
|
|
NM_001243279.3(ACSF3):c.831A>G (p.Glu277=)
|
|
|
|
NM_001243279.3(ACSF3):c.837C>T (p.Phe279=)
|
|
|
|
NM_001243279.3(ACSF3):c.838T>C (p.Leu280=)
|
|
|
|
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)
|
rs1597942772
|
|
|
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)
|
|
|
|
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
|
|
|
|
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=)
|
|
|
|
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
|
|
|
|
NM_001243279.3(ACSF3):c.858G>C (p.Arg286=)
|
rs1378884062
|
|
|
NM_001243279.3(ACSF3):c.858G>T (p.Arg286=)
|
|
|
|
NM_001243279.3(ACSF3):c.861C>T (p.Ile287=)
|
|
|
|
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.864T>C (p.Asn288=)
|
|
|
|
NM_001243279.3(ACSF3):c.867C>A (p.Val289=)
|
|
|
|
NM_001243279.3(ACSF3):c.867C>T (p.Val289=)
|
rs1246005897
|
|
|
NM_001243279.3(ACSF3):c.870T>C (p.Phe290=)
|
rs2151444679
|
|
|
NM_001243279.3(ACSF3):c.876A>G (p.Ala292=)
|
|
|
|
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
|
|
|
|
NM_001243279.3(ACSF3):c.885A>G (p.Thr295=)
|
|
|
|
NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs)
|
|
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
|
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)
|
rs2151444809
|
|
|
NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs)
|
|
|
|
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)
|
rs1976764124
|
|
|
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=)
|
|
|
|
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
|
|
|
|
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)
|
rs1975195262
|
|
|
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=)
|
rs770510501
|
|
|
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
|
|
|
|
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.953del (p.Arg318fs)
|
|
|
|
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)
|
rs1165098721
|
|
|
NM_001243279.3(ACSF3):c.973del (p.Ile325fs)
|
|
|
|
NM_001243279.3(ACSF3):c.977+18A>G
|
|
|
|
NM_001243279.3(ACSF3):c.977+1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.977+1G>C
|
rs141056046
|
|
|
NM_001243279.3(ACSF3):c.977+1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.978-11_978-9del
|
|
|
|
NM_001243279.3(ACSF3):c.978-19C>G
|
|
|
|
NM_001243279.3(ACSF3):c.978-19C>T
|
|
|
|
NM_001243279.3(ACSF3):c.978-20C>T
|
|
|
|
NM_001243279.3(ACSF3):c.978-2A>G
|
|
|
|
NM_001243279.3(ACSF3):c.978-6G>T
|
rs377217672
|
|
|
NM_001243279.3(ACSF3):c.978-8C>T
|
|
|
|
NM_001243279.3(ACSF3):c.987C>A (p.Val329=)
|
rs1426240105
|
|
|
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)
|
rs2151453873
|
|
|
NM_001243279.3(ACSF3):c.993C>T (p.Gly331=)
|
|
|
|
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)
|
|
|
|
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=)
|
rs2151453925
|
|
|
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys)
|
rs2135512797
|
|
|
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)
|
|
|
|
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
|
|
|
|
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=)
|
rs1949786030
|
|
|
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
|
|
|
|
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
|
|
|
|
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
|
rs1949785389
|
|
|
NM_001258392.3(CLPB):c.1063A>C (p.Ile355Leu)
|
|
|
|
NM_001258392.3(CLPB):c.1066+1G>A
|
rs1555087619
|
|
|
NM_001258392.3(CLPB):c.1066+9del
|
rs1204558796
|
|
|
NM_001258392.3(CLPB):c.1067-11T>C
|
|
|
|
NM_001258392.3(CLPB):c.1067-20T>A
|
|
|
|
NM_001258392.3(CLPB):c.1067-20T>C
|
|
|
|
NM_001258392.3(CLPB):c.1067-3T>C
|
|
|
|
NM_001258392.3(CLPB):c.1067-9T>C
|
rs372848873
|
|
|
NM_001258392.3(CLPB):c.107A>G (p.Asn36Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
|
|
|
|
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu)
|
rs773901608
|
|
|
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
|
|
|
|
NM_001258392.3(CLPB):c.1103T>C (p.Met368Thr)
|
|
|
|
NM_001258392.3(CLPB):c.1122+11G>A
|
|
|
|
NM_001258392.3(CLPB):c.1122+16T>G
|
|
|
|
NM_001258392.3(CLPB):c.1123-13T>C
|
|
|
|
NM_001258392.3(CLPB):c.1123-18T>C
|
|
|
|
NM_001258392.3(CLPB):c.1123-3C>A
|
|
|
|
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)
|
|
|
|
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=)
|
rs890501416
|
|
|
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=)
|
rs267603176
|
|
|
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
|
rs1949671839
|
|
|
NM_001258392.3(CLPB):c.114T>C (p.Thr38=)
|
rs1590948323
|
|
|
NM_001258392.3(CLPB):c.1160G>A (p.Arg387Gln)
|
|
|
|
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)
|
rs202009794
|
|
|
NM_001258392.3(CLPB):c.1167+10G>A
|
|
|
|
NM_001258392.3(CLPB):c.1167+3G>T
|
|
|
|
NM_001258392.3(CLPB):c.1167+5G>T
|
rs1565424666
|
|
|
NM_001258392.3(CLPB):c.1167+9T>C
|
|
|
|
NM_001258392.3(CLPB):c.1168-15C>T
|
|
|
|
NM_001258392.3(CLPB):c.1168-3C>G
|
|
|
|
NM_001258392.3(CLPB):c.1168-9T>C
|
rs979851122
|
|
|
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
|
|
|
|
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
|
|
|
|
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
|
|
|
|
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala)
|
rs138691107
|
|
|
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
|
|
|
|
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
|
rs1590764241
|
|
|
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
|
|
|
|
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
|
|
|
|
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
|
|
|
|
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
|
|
|
|
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
|
|
|
|
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
|
|
|
|
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
|
|
|
|
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)
|
rs758030499
|
|
|
NM_001258392.3(CLPB):c.1307T>C (p.Ile436Thr)
|
|
|
|
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)
|
|
|
|
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=)
|
rs146721061
|
|
|
NM_001258392.3(CLPB):c.1329+12del
|
|
|
|
NM_001258392.3(CLPB):c.1329+14G>A
|
|
|
|
NM_001258392.3(CLPB):c.1329+1G>A
|
rs2135500473
|
|
|
NM_001258392.3(CLPB):c.1329+9_1329+10inv
|
|
|
|
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
|
|
|
|
NM_001258392.3(CLPB):c.1353G>T (p.Gly451=)
|
|
|
|
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
|
|
|
|
NM_001258392.3(CLPB):c.1378A>G (p.Ile460Val)
|
|
|
|
NM_001258392.3(CLPB):c.138G>A (p.Gln46=)
|
|
|
|
NM_001258392.3(CLPB):c.1398T>C (p.Asn466=)
|
|
|
|
NM_001258392.3(CLPB):c.13C>T (p.Leu5=)
|
|
|
|
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
|
rs1365431764
|
|
|
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp)
|
rs780612425
|
|
|
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
|
rs1949536469
|
|
|
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
|
|
|
|
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
|
rs1856650498
|
|
|
NM_001258392.3(CLPB):c.1431G>A (p.Leu477=)
|
|
|
|
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
|
|
|
|
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
|
rs143522576
|
|
|
NM_001258392.3(CLPB):c.1457T>C (p.Met486Thr)
|
|
|
|
NM_001258392.3(CLPB):c.1467C>T (p.Asn489=)
|
|
|
|
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys)
|
rs1555085159
|
|
|
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
|
rs779812366
|
|
|
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
|
|
|
|
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
|
rs1949534031
|
|
|
NM_001258392.3(CLPB):c.1486+7C>T
|
|
|
|
NM_001258392.3(CLPB):c.1486+8G>A
|
|
|
|
NM_001258392.3(CLPB):c.1487-17_1487-16del
|
|
|
|
NM_001258392.3(CLPB):c.1487-6C>T
|
|
|
|
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
|
|
|
|
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His)
|
rs918777173
|
|
|
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)
|
|
|
|
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile)
|
rs2135486440
|
|
|
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His)
|
rs577566573
|
|
|
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser)
|
rs200812003
|
|
|
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
|
rs200812003
|
|
|
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
|
rs778078736
|
|
|
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)
|
|
|
|
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
|
|
|
|
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
|
rs1949516441
|
|
|
NM_001258392.3(CLPB):c.1557G>A (p.Leu519=)
|
|
|
|
NM_001258392.3(CLPB):c.1560+19C>T
|
|
|
|
NM_001258392.3(CLPB):c.1560+2_1560+5del
|
|
|
|
NM_001258392.3(CLPB):c.1560+7G>A
|
|
|
|
NM_001258392.3(CLPB):c.1561-11_1561-10delinsCT
|
|
|
|
NM_001258392.3(CLPB):c.1561-12C>G
|
|
|
|
NM_001258392.3(CLPB):c.1561-18C>G
|
|
|
|
NM_001258392.3(CLPB):c.1561-18_1561-12del
|
rs1166987571
|
|
|
NM_001258392.3(CLPB):c.1561-20C>T
|
|
|
|
NM_001258392.3(CLPB):c.1561-7C>T
|
|
|
|
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
|
rs1590753263
|
|
|
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)
|
|
|
|
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)
|
|
|
|
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)
|
|
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
|
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
|
rs150857620
|
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
|
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
|
|
|
|
NM_001258392.3(CLPB):c.1623C>G (p.Phe541Leu)
|
|
|
|
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
|
|
|
|
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
|
rs1430716011
|
|
|
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
|
|
|
|
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
|
|
|
|
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
|
rs1949510719
|
|
|
NM_001258392.3(CLPB):c.1647C>T (p.Leu549=)
|
|
|
|
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
|
|
|
|
NM_001258392.3(CLPB):c.164G>A (p.Arg55His)
|
|
|
|
NM_001258392.3(CLPB):c.1666T>C (p.Phe556Leu)
|
|
|
|
NM_001258392.3(CLPB):c.166C>T (p.Pro56Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn)
|
rs2135485638
|
|
|
NM_001258392.3(CLPB):c.1680+18A>G
|
|
|
|
NM_001258392.3(CLPB):c.1680+2dup
|
|
|
|
NM_001258392.3(CLPB):c.1680+6A>C
|
rs1949509457
|
|
|
NM_001258392.3(CLPB):c.1680+9G>A
|
|
|
|
NM_001258392.3(CLPB):c.1681-17T>C
|
|
|
|
NM_001258392.3(CLPB):c.1681-1G>A
|
|
|
|
NM_001258392.3(CLPB):c.1681-3C>T
|
|
|
|
NM_001258392.3(CLPB):c.1687C>A (p.Gln563Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro)
|
rs765245566
|
|
|
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
|
|
|
|
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
|
|
|
|
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
|
|
|
|
NM_001258392.3(CLPB):c.1751A>G (p.Asn584Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln)
|
rs2135484836
|
|
|
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
|
|
|
|
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)
|
rs2135484821
|
|
|
NM_001258392.3(CLPB):c.177G>T (p.Ser59=)
|
|
|
|
NM_001258392.3(CLPB):c.1785+13G>A
|
|
|
|
NM_001258392.3(CLPB):c.1785+18A>C
|
|
|
|
NM_001258392.3(CLPB):c.1786-14C>T
|
|
|
|
NM_001258392.3(CLPB):c.1786-7C>A
|
|
|
|
NM_001258392.3(CLPB):c.1787T>C (p.Val596Ala)
|
|
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
|
rs369227883
|
|
|
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
|
|
|
|
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)
|
|
|
|
NM_001258392.3(CLPB):c.1812G>A (p.Leu604=)
|
|
|
|
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
|
|
|
|
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
|
|
|
|
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
|
rs767517671
|
|
|
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val)
|
rs767839493
|
|
|
NM_001258392.3(CLPB):c.1833C>T (p.Asp611=)
|
|
|
|
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
|
|
|
|
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
|
|
|
|
NM_001258392.3(CLPB):c.1843G>A (p.Gly615Arg)
|
|
|
|
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala)
|
rs759500860
|
|
|
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
|
|
|
|
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
|
rs137882645
|
|
|
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)
|
rs137882645
|
|
|
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val)
|
rs755357754
|
|
|
NM_001258392.3(CLPB):c.187T>C (p.Phe63Leu)
|
|
|
|
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
|
|
|
|
NM_001258392.3(CLPB):c.1897A>G (p.Ser633Gly)
|
|
|
|
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=)
|
rs776395544
|
|
|
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
|
|
|
|
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
|
rs2135483654
|
|
|
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
|
|
|
|
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
|
|
|
|
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
|
|
|
|
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
|
|
|
|
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
|
|
|
|
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg)
|
rs368496010
|
|
|
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)
|
|
|
|
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
|
rs368496010
|
|
|
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
|
|
|
|
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
|
|
|
|
NM_001258392.3(CLPB):c.1946G>A (p.Arg649His)
|
|
|
|
NM_001258392.3(CLPB):c.1957A>G (p.Ile653Val)
|
|
|
|
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
|
|
|
|
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
|
|
|
|
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
|
|
|
|
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
|
|
|
|
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly)
|
rs2135483452
|
|
|
NM_001258392.3(CLPB):c.2007C>A (p.His669Gln)
|
|
|
|
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
|
|
|
|
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
|
|
|
|
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
|
rs372096809
|
|
|
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs)
|
rs1362604874
|
|
|
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=)
|
rs2135483266
|
|
|
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)
|
|
|
|
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
|
rs1949484806
|
|
|
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
|
|
|
|
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
|
rs746191886
|
|
|
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)
|
|
|
|
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)
|
|
|
|
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)
|
|
|
|
NM_001258392.3(CLPB):c.213G>A (p.Gly71=)
|
rs1856645490
|
|
|
NM_001258392.3(CLPB):c.216G>C (p.Gly72=)
|
|
|
|
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
|
|
|
|
NM_001258392.3(CLPB):c.218G>T (p.Arg73Leu)
|
|
|
|
NM_001258392.3(CLPB):c.223G>A (p.Gly75Arg)
|
|
|
|
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)
|
|
|
|
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)
|
|
|
|
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg)
|
rs1293473561
|
|
|
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del)
|
rs1565108155
|
|
|
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val)
|
rs2135181668
|
|
|
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile)
|
rs1424542665
|
|
|
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
|
|
|
|
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)
|
|
|
|
NM_001258392.3(CLPB):c.274C>T (p.Pro92Ser)
|
|
|
|
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)
|
|
|
|
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)
|
|
|
|
NM_001258392.3(CLPB):c.278dup (p.Pro94fs)
|
|
|
|
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
|
|
|
|
NM_001258392.3(CLPB):c.294C>T (p.Leu98=)
|
|
|
|
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
|
|
|
|
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
|
|
|
|
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
|
rs1856636073
|
|
|
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
|
|
|
|
NM_001258392.3(CLPB):c.340G>A (p.Gly114Ser)
|
|
|
|
NM_001258392.3(CLPB):c.341G>A (p.Gly114Asp)
|
|
|
|
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
|
|
|
|
NM_001258392.3(CLPB):c.343A>G (p.Met115Val)
|
rs755190312
|
|
|
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)
|
|
|
|
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
|
|
|
|
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val)
|
rs563749368
|
|
|
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
|
|
|
|
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
|
|
|
|
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
|
|
|
|
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
|
|
|
|
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
|
|
|
|
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
|
|
|
|
NM_001258392.3(CLPB):c.375T>C (p.His125=)
|
|
|
|
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
|
|
|
|
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
|
|
|
|
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
|
rs745934487
|
|
|
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
|
|
|
|
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
|
rs1856631048
|
|
|
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
|
|
|
|
NM_001258392.3(CLPB):c.403+13T>G
|
|
|
|
NM_001258392.3(CLPB):c.403+14C>T
|
|
|
|
NM_001258392.3(CLPB):c.403+15T>G
|
|
|
|
NM_001258392.3(CLPB):c.403+6T>C
|
rs944669671
|
|
|
NM_001258392.3(CLPB):c.403+7_403+8del
|
rs754849241
|
|
|
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
|
|
|
|
NM_001258392.3(CLPB):c.404-12dup
|
|
|
|
NM_001258392.3(CLPB):c.404-14C>T
|
|
|
|
NM_001258392.3(CLPB):c.404-15C>G
|
|
|
|
NM_001258392.3(CLPB):c.404-17G>A
|
|
|
|
NM_001258392.3(CLPB):c.404-17G>C
|
|
|
|
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
|
|
|
|
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro)
|
rs1384482038
|
|
|
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
|
|
|
|
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu)
|
rs1194145425
|
|
|
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val)
|
rs1219520636
|
|
|
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
|
|
|
|
NM_001258392.3(CLPB):c.427C>T (p.Arg143Cys)
|
|
|
|
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
|
|
|
|
NM_001258392.3(CLPB):c.447A>G (p.Glu149=)
|
rs1856508277
|
|
|
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
|
rs1856508068
|
|
|
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
|
rs2135168122
|
|
|
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
|
|
|
|
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
|
|
|
|
NM_001258392.3(CLPB):c.455+1G>A
|
rs1856507751
|
|
|
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
|
|
|
|
NM_001258392.3(CLPB):c.456-5T>C
|
|
|
|
NM_001258392.3(CLPB):c.456-99GCCATACACTGAAAATATTCCTCTGTCTTGTTTTAGGCTGTTGTCAGAAGGTGCAGATGTCAA[4]
|
|
|
|
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
|
|
|
|
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
|
|
|
|
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg)
|
rs2135083426
|
|
|
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)
|
|
|
|
NM_001258392.3(CLPB):c.513C>G (p.Leu171=)
|
rs1017640223
|
|
|
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
|
|
|
|
NM_001258392.3(CLPB):c.514A>G (p.Met172Val)
|
|
|
|
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
|
|
|
|
NM_001258392.3(CLPB):c.527T>C (p.Ile176Thr)
|
|
|
|
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
|
rs766521266
|
|
|
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
|
|
|
|
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
|
|
|
|
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
|
|
|
|
NM_001258392.3(CLPB):c.542+13C>A
|
|
|
|
NM_001258392.3(CLPB):c.542+15T>C
|
|
|
|
NM_001258392.3(CLPB):c.542+18A>G
|
|
|
|
NM_001258392.3(CLPB):c.543-14G>T
|
|
|
|
NM_001258392.3(CLPB):c.543-1G>A
|
|
|
|
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
|
rs1854871823
|
|
|
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
|
|
|
|
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
|
|
|
|
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
|
rs770534948
|
|
|
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
|
rs1856655686
|
|
|
NM_001258392.3(CLPB):c.573T>C (p.Ala191=)
|
|
|
|
NM_001258392.3(CLPB):c.577C>A (p.Pro193Thr)
|
|
|
|
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu)
|
rs2135677270
|
|
|
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
|
|
|
|
NM_001258392.3(CLPB):c.611A>G (p.Lys204Arg)
|
|
|
|
NM_001258392.3(CLPB):c.646+14G>C
|
|
|
|
NM_001258392.3(CLPB):c.646+3A>G
|
|
|
|
NM_001258392.3(CLPB):c.646+7247C>T
|
|
|
|
NM_001258392.3(CLPB):c.646+7250C>T
|
|
|
|
NM_001258392.3(CLPB):c.646+7257G>A
|
|
|
|
NM_001258392.3(CLPB):c.646+7367del
|
|
|
|
NM_001258392.3(CLPB):c.646+7369C>T
|
|
|
|
NM_001258392.3(CLPB):c.646+7372T>C
|
|
|
|
NM_001258392.3(CLPB):c.646+7375A>G
|
|
|
|
NM_001258392.3(CLPB):c.646+7G>A
|
rs1854866433
|
|
|
NM_001258392.3(CLPB):c.647-10G>A
|
rs2135614152
|
|
|
NM_001258392.3(CLPB):c.647-5C>G
|
|
|
|
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
|
|
|
|
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)
|
rs777202372
|
|
|
NM_001258392.3(CLPB):c.659G>A (p.Arg220Gln)
|
|
|
|
NM_001258392.3(CLPB):c.663G>A (p.Glu221=)
|
rs571326442
|
|
|
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
|
|
|
|
NM_001258392.3(CLPB):c.666T>A (p.Asp222Glu)
|
|
|
|
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
|
|
|
|
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met)
|
rs1284671735
|
|
|
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
|
|
|
|
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
|
|
|
|
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
|
|
|
|
NM_001258392.3(CLPB):c.714G>A (p.Thr238=)
|
|
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
|
|
|
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)
|
|
|
|
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
|
rs146762466
|
|
|
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
|
|
|
|
NM_001258392.3(CLPB):c.749G>T (p.Arg250Leu)
|
|
|
|
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
|
|
|
|
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
|
|
|
|
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro)
|
rs1555098495
|
|
|
NM_001258392.3(CLPB):c.766C>T (p.Leu256Phe)
|
|
|
|
NM_001258392.3(CLPB):c.775+14T>C
|
|
|
|
NM_001258392.3(CLPB):c.775+1G>A
|
|
|
|
NM_001258392.3(CLPB):c.775+8C>T
|
|
|
|
NM_001258392.3(CLPB):c.776-10C>A
|
rs141271919
|
|
|
NM_001258392.3(CLPB):c.776-13C>A
|
|
|
|
NM_001258392.3(CLPB):c.776-17C>T
|
rs2135549983
|
|
|
NM_001258392.3(CLPB):c.776-5G>T
|
rs1253919639
|
|
|
NM_001258392.3(CLPB):c.780C>T (p.Ala260=)
|
|
|
|
NM_001258392.3(CLPB):c.782A>G (p.Asn261Ser)
|
|
|
|
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
|
|
|
|
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
|
|
|
|
NM_001258392.3(CLPB):c.784C>T (p.Pro262Ser)
|
|
|
|
NM_001258392.3(CLPB):c.787del (p.Leu263fs)
|
|
|
|
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
|
|
|
|
NM_001258392.3(CLPB):c.795G>A (p.Arg265=)
|
|
|
|
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)
|
|
|
|
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
|
rs1390365704
|
|
|
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
|
rs757880862
|
|
|
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
|
|
|
|
NM_001258392.3(CLPB):c.830G>A (p.Arg277Gln)
|
|
|
|
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
|
rs2135549683
|
|
|
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
|
|
|
|
NM_001258392.3(CLPB):c.843G>A (p.Val281=)
|
rs2135549653
|
|
|
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
|
|
|
|
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile)
|
rs1318523407
|
|
|
NM_001258392.3(CLPB):c.873+1G>A
|
rs974377052
|
|
|
NM_001258392.3(CLPB):c.873+7C>T
|
|
|
|
NM_001258392.3(CLPB):c.874-10C>G
|
|
|
|
NM_001258392.3(CLPB):c.874-7C>G
|
|
|
|
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys)
|
rs1949961706
|
|
|
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
|
|
|
|
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)
|
|
|
|
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
|
rs547532550
|
|
|
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
|
|
|
|
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
|
|
|
|
NM_001258392.3(CLPB):c.905A>C (p.Glu302Ala)
|
|
|
|
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)
|
rs745539947
|
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
|
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val)
|
rs144712077
|
|
|
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
|
|
|
|
NM_001258392.3(CLPB):c.911G>A (p.Arg304Gln)
|
|
|
|
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
|
|
|
|
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val)
|
rs941057831
|
|
|
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
|
|
|
|
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
|
|
|
|
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
|
rs1590786067
|
|
|
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)
|
|
|
|
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
|
|
|
|
NM_001258392.3(CLPB):c.96T>A (p.Ala32=)
|
|
|
|
NM_001258392.3(CLPB):c.970A>G (p.Ile324Val)
|
|
|
|
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
|
|
|
|
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
|
|
|
|
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
|
|
|
|
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp)
|
rs1565433670
|
|
|
NM_001258392.3(CLPB):c.988+14A>T
|
rs2135527417
|
|
|
NM_001258392.3(CLPB):c.988+16A>G
|
|
|
|
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr)
|
rs2135527446
|
|
|
NM_001258392.3(CLPB):c.989-4G>A
|
|
|
|
NM_001258392.3(CLPB):c.989-5C>T
|
|
|
|
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
|
rs144942416
|
|
|
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr)
|
rs2135512844
|
|
|
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
|
|
|
|
NM_001258392.3(CLPB):c.99C>A (p.Ser33=)
|
rs1277330273
|
|
|
NM_001258392.3(CLPB):c.99C>G (p.Ser33=)
|
|
|
|
NM_001258392.3(CLPB):c.9G>A (p.Gly3=)
|
|
|
|
NM_001330540.2(MMACHC):c.-90del
|
|
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
|
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
|
|
|
|
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
|
|
|
|
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)
|
rs1601803431
|
|
|
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
|
|
|
|
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
|
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
|
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
|
rs2066910824
|
|
|
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
|
|
|
|
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
|
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
|
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
|
rs765699943
|
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
|
NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)
|
|
|
|
NM_001352514.2(HLCS):c.1068G>C (p.Pro356=)
|
|
|
|
NM_001352514.2(HLCS):c.1077C>T (p.Asp359=)
|
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1084C>T (p.Leu362=)
|
rs1459880908
|
|
|
NM_001352514.2(HLCS):c.1089G>A (p.Leu363=)
|
|
|
|
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
|
NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)
|
|
|
|
NM_001352514.2(HLCS):c.1107G>A (p.Arg369=)
|
rs2146525599
|
|
|
NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)
|
|
|
|
NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)
|
|
|
|
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
|
rs768927843
|
|
|
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
|
rs780469041
|
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
|
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
|
rs1450990152
|
|
|
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
|
rs1199413324
|
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
|
NM_001352514.2(HLCS):c.1134G>A (p.Gln378=)
|
|
|
|
NM_001352514.2(HLCS):c.1137G>A (p.Lys379=)
|
|
|
|
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
|
rs2066903072
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
|
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
|
rs2146525207
|
|
|
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
|
|
|
|
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=)
|
rs1057523540
|
|
|
NM_001352514.2(HLCS):c.1182T>C (p.Ser394=)
|
|
|
|
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
|
rs979308593
|
|
|
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
|
rs979308593
|
|
|
NM_001352514.2(HLCS):c.1194C>G (p.Thr398=)
|
|
|
|
NM_001352514.2(HLCS):c.1197T>C (p.Phe399=)
|
|
|
|
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
|
|
|
|
NM_001352514.2(HLCS):c.1218C>T (p.Ser406=)
|
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
|
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
|
|
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
|
NM_001352514.2(HLCS):c.1242C>A (p.Val414=)
|
|
|
|
NM_001352514.2(HLCS):c.1242C>T (p.Val414=)
|
|
|
|
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=)
|
rs535891229
|
|
|
NM_001352514.2(HLCS):c.1257C>T (p.Phe419=)
|
rs757706257
|
|
|
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
|
rs2146524449
|
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
|
rs2146524399
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
|
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
|
|
|
|
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
|
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
|
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
|
rs2146524204
|
|
|
NM_001352514.2(HLCS):c.1308C>T (p.Cys436=)
|
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
|
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
|
rs2066890502
|
|
|
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
|
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
|
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
|
|
|
|
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
|
rs139902499
|
|
|
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
|
rs2146523893
|
|
|
NM_001352514.2(HLCS):c.1332G>T (p.Arg444=)
|
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
|
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
|
rs756934917
|
|
|
NM_001352514.2(HLCS):c.1359C>T (p.His453=)
|
|
|
|
NM_001352514.2(HLCS):c.1374C>T (p.Asp458=)
|
rs771883068
|
|
|
NM_001352514.2(HLCS):c.1392G>C (p.Val464=)
|
|
|
|
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
|
rs533602689
|
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
|
NM_001352514.2(HLCS):c.1418G>A (p.Gly473Glu)
|
|
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
|
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
|
|
|
|
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
|
|
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
|
NM_001352514.2(HLCS):c.1437+10G>A
|
|
|
|
NM_001352514.2(HLCS):c.1437+13G>T
|
|
|
|
NM_001352514.2(HLCS):c.1437+14C>T
|
|
|
|
NM_001352514.2(HLCS):c.1437+15A>G
|
|
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
|
NM_001352514.2(HLCS):c.1437+20T>A
|
|
|
|
NM_001352514.2(HLCS):c.1437+8G>A
|
rs777565665
|
|
|
NM_001352514.2(HLCS):c.1438-17C>T
|
|
|
|
NM_001352514.2(HLCS):c.1438-6C>T
|
|
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
|
NM_001352514.2(HLCS):c.1440_1443dup (p.Leu482fs)
|
|
|
|
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
|
|
|
|
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
|
|
|
|
NM_001352514.2(HLCS):c.1446A>G (p.Leu482=)
|
|
|
|
NM_001352514.2(HLCS):c.1450C>T (p.Leu484=)
|
|
|
|
NM_001352514.2(HLCS):c.1452A>C (p.Leu484=)
|
|
|
|
NM_001352514.2(HLCS):c.1458C>T (p.Pro486=)
|
|
|
|
NM_001352514.2(HLCS):c.1467C>T (p.Asn489=)
|
|
|
|
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
|
|
|
|
NM_001352514.2(HLCS):c.1473G>T (p.Val491=)
|
rs367611748
|
|
|
NM_001352514.2(HLCS):c.1482A>G (p.Pro494=)
|
rs2066584824
|
|
|
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
|
|
|
|
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter)
|
rs1601779091
|
|
|
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1509C>T (p.Ser503=)
|
|
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
|
|
|
|
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer)
|
rs1288789420
|
|
|
NM_001352514.2(HLCS):c.1551C>A (p.Thr517=)
|
rs138442090
|
|
|
NM_001352514.2(HLCS):c.1551C>G (p.Thr517=)
|
|
|
|
NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)
|
|
|
|
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
|
rs1569206815
|
|
|
NM_001352514.2(HLCS):c.1570dup (p.Met524fs)
|
|
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
|
NM_001352514.2(HLCS):c.1581T>G (p.Val527=)
|
|
|
|
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
|
|
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
|
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
|
|
|
|
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
|
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1620+15C>G
|
|
|
|
NM_001352514.2(HLCS):c.1620+17G>A
|
|
|
|
NM_001352514.2(HLCS):c.1620+7T>G
|
|
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
|
NM_001352514.2(HLCS):c.1620+8G>A
|
rs1569206652
|
|
|
NM_001352514.2(HLCS):c.1620+9T>G
|
rs2146492738
|
|
|
NM_001352514.2(HLCS):c.1620+9del
|
|
|
|
NM_001352514.2(HLCS):c.1621-11T>C
|
|
|
|
NM_001352514.2(HLCS):c.1621-13_1621-10del
|
rs377641674
|
|
|
NM_001352514.2(HLCS):c.1621-19T>A
|
|
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
|
NM_001352514.2(HLCS):c.1621-8T>C
|
|
|
|
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
|
rs2146336527
|
|
|
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs)
|
rs2146336516
|
|
|
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
|
rs1344897387
|
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
|
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
|
|
|
|
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
|
rs2146336458
|
|
|
NM_001352514.2(HLCS):c.1634del (p.Pro545fs)
|
rs2146336447
|
|
|
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
|
rs2146336432
|
|
|
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
|
rs1366041798
|
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
|
NM_001352514.2(HLCS):c.1659T>C (p.His553=)
|
|
|
|
NM_001352514.2(HLCS):c.1665C>T (p.Asp555=)
|
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
|
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
|
rs771923409
|
|
|
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
|
rs2146336131
|
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
|
NM_001352514.2(HLCS):c.1686C>T (p.Ser562=)
|
rs141905941
|
|
|
NM_001352514.2(HLCS):c.1689C>A (p.Gly563=)
|
|
|
|
NM_001352514.2(HLCS):c.1695C>G (p.Leu565=)
|
rs138209330
|
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
|
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
|
rs2146335962
|
|
|
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
|
rs2065041493
|
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
|
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
|
|
|
|
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
|
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
|
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
|
|
|
|
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=)
|
rs2146335640
|
|
|
NM_001352514.2(HLCS):c.1767C>T (p.Asn589=)
|
|
|
|
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
|
|
|
|
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
|
rs771694153
|
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
|
NM_001352514.2(HLCS):c.1782A>C (p.Ser594=)
|
|
|
|
NM_001352514.2(HLCS):c.1794C>T (p.Phe598=)
|
rs1601665712
|
|
|
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
|
rs2146335404
|
|
|
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1800A>G (p.Leu600=)
|
|
|
|
NM_001352514.2(HLCS):c.1806C>T (p.Ile602=)
|
rs1240730503
|
|
|
NM_001352514.2(HLCS):c.1812C>T (p.Arg604=)
|
|
|
|
NM_001352514.2(HLCS):c.1819C>T (p.Leu607=)
|
|
|
|
NM_001352514.2(HLCS):c.1827C>T (p.Thr609=)
|
|
|
|
NM_001352514.2(HLCS):c.1830G>A (p.Lys610=)
|
|
|
|
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1833G>A (p.Gln611=)
|
|
|
|
NM_001352514.2(HLCS):c.1834T>C (p.Leu612=)
|
|
|
|
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
|
rs760230537
|
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
|
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
|
rs759178651
|
|
|
NM_001352514.2(HLCS):c.1866C>G (p.Thr622=)
|
rs2146334911
|
|
|
NM_001352514.2(HLCS):c.1869C>G (p.Pro623=)
|
rs769822408
|
|
|
NM_001352514.2(HLCS):c.1869C>T (p.Pro623=)
|
rs769822408
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
|
NM_001352514.2(HLCS):c.1881T>C (p.Arg627=)
|
rs2146334744
|
|
|
NM_001352514.2(HLCS):c.1884C>T (p.Leu628=)
|
|
|
|
NM_001352514.2(HLCS):c.1885C>T (p.Leu629=)
|
|
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
|
NM_001352514.2(HLCS):c.1892+8G>T
|
rs2065029914
|
|
|
NM_001352514.2(HLCS):c.1893-11C>G
|
|
|
|
NM_001352514.2(HLCS):c.1893-14C>T
|
|
|
|
NM_001352514.2(HLCS):c.1893-22_1893-14dup
|
|
|
|
NM_001352514.2(HLCS):c.1893-4G>T
|
|
|
|
NM_001352514.2(HLCS):c.1893-5G>C
|
|
|
|
NM_001352514.2(HLCS):c.1894C>T (p.Leu632=)
|
|
|
|
NM_001352514.2(HLCS):c.1896G>A (p.Leu632=)
|
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
|
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
|
|
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
|
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
|
rs370347318
|
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
|
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
|
rs1031377645
|
|
|
NM_001352514.2(HLCS):c.1950C>A (p.Thr650=)
|
rs201813658
|
|
|
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
|
rs201813658
|
|
|
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=)
|
rs201813658
|
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
|
NM_001352514.2(HLCS):c.1956C>A (p.Gly652=)
|
|
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
|
NM_001352514.2(HLCS):c.1960+7C>T
|
|
|
|
NM_001352514.2(HLCS):c.1960+8A>G
|
rs2145776793
|
|
|
NM_001352514.2(HLCS):c.1960+8A>T
|
|
|
|
NM_001352514.2(HLCS):c.1960+9T>C
|
|
|
|
NM_001352514.2(HLCS):c.1961-12C>A
|
|
|
|
NM_001352514.2(HLCS):c.1961-12C>T
|
|
|
|
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=)
|
rs757169763
|
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
|
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1983G>C (p.Leu661=)
|
|
|
|
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=)
|
rs1601141038
|
|
|
NM_001352514.2(HLCS):c.2029C>T (p.Leu677=)
|
|
|
|
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
|
|
|
|
NM_001352514.2(HLCS):c.2037C>A (p.Ser679=)
|
rs2145768209
|
|
|
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)
|
|
|
|
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
|
rs2145768179
|
|
|
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
|
|
|
|
NM_001352514.2(HLCS):c.2046A>G (p.Gly682=)
|
|
|
|
NM_001352514.2(HLCS):c.2049G>A (p.Gln683=)
|
|
|
|
NM_001352514.2(HLCS):c.2055C>A (p.Ile685=)
|
|
|
|
NM_001352514.2(HLCS):c.2055C>T (p.Ile685=)
|
rs1568975308
|
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
|
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
|
|
|
|
NM_001352514.2(HLCS):c.2064C>T (p.Val688=)
|
|
|
|
NM_001352514.2(HLCS):c.2067G>A (p.Gln689=)
|
rs2089984668
|
|
|
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
|
rs755088995
|
|
|
NM_001352514.2(HLCS):c.2079C>T (p.Ser693=)
|
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
|
NM_001352514.2(HLCS):c.2088C>A (p.Val696=)
|
|
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
|
NM_001352514.2(HLCS):c.2091G>A (p.Val697=)
|
rs773627772
|
|
|
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=)
|
rs762221640
|
|
|
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
|
rs762221640
|
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
|
NM_001352514.2(HLCS):c.2121+10G>A
|
rs2145767655
|
|
|
NM_001352514.2(HLCS):c.2121+14A>G
|
|
|
|
NM_001352514.2(HLCS):c.2121+16T>C
|
|
|
|
NM_001352514.2(HLCS):c.2121+8C>A
|
rs2089982138
|
|
|
NM_001352514.2(HLCS):c.2121+8C>T
|
rs2089982138
|
|
|
NM_001352514.2(HLCS):c.2121+9A>G
|
|
|
|
NM_001352514.2(HLCS):c.2122-13G>A
|
|
|
|
NM_001352514.2(HLCS):c.2122-19T>C
|
|
|
|
NM_001352514.2(HLCS):c.2122-6C>T
|
rs764724435
|
|
|
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
|
|
|
|
NM_001352514.2(HLCS):c.2134C>A (p.Arg712=)
|
|
|
|
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
|
NM_001352514.2(HLCS):c.2169C>T (p.Asp723=)
|
|
|
|
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
|
rs375456567
|
|
|
NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)
|
|
|
|
NM_001352514.2(HLCS):c.2190T>C (p.Val730=)
|
rs2089756578
|
|
|
NM_001352514.2(HLCS):c.2193G>C (p.Leu731=)
|
|
|
|
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
|
rs2145744309
|
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
|
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
|
rs2145744246
|
|
|
NM_001352514.2(HLCS):c.2205A>G (p.Thr735=)
|
|
|
|
NM_001352514.2(HLCS):c.2205A>T (p.Thr735=)
|
|
|
|
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
|
rs764487201
|
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
|
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
|
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
|
NM_001352514.2(HLCS):c.2220A>G (p.Thr740=)
|
rs2145744147
|
|
|
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
|
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2236+13A>T
|
|
|
|
NM_001352514.2(HLCS):c.2236+16C>T
|
|
|
|
NM_001352514.2(HLCS):c.2236+17T>C
|
|
|
|
NM_001352514.2(HLCS):c.2236+20C>A
|
|
|
|
NM_001352514.2(HLCS):c.2237-17T>G
|
rs1320109632
|
|
|
NM_001352514.2(HLCS):c.2237-19A>G
|
|
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
|
NM_001352514.2(HLCS):c.2237-6G>A
|
rs201208730
|
|
|
NM_001352514.2(HLCS):c.2237-7dup
|
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
|
NM_001352514.2(HLCS):c.2247T>C (p.Phe749=)
|
rs2145732165
|
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
|
NM_001352514.2(HLCS):c.2259C>T (p.Asn753=)
|
rs760492059
|
|
|
NM_001352514.2(HLCS):c.2262T>C (p.Ser754=)
|
|
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
|
NM_001352514.2(HLCS):c.2268T>C (p.Pro756=)
|
rs2145731986
|
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
|
NM_001352514.2(HLCS):c.2287C>T (p.Leu763Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)
|
|
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
|
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)
|
|
|
|
NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)
|
|
|
|
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
|
rs1376040224
|
|
|
NM_001352514.2(HLCS):c.2328G>A (p.Lys776=)
|
|
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
|
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
|
rs2123576595
|
|
|
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2334A>G (p.Leu778=)
|
rs2123576546
|
|
|
NM_001352514.2(HLCS):c.2337A>G (p.Arg779=)
|
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
|
NM_001352514.2(HLCS):c.2353G>A (p.Ala785Thr)
|
|
|
|
NM_001352514.2(HLCS):c.2357G>C (p.Arg786Thr)
|
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
|
NM_001352514.2(HLCS):c.2361C>G (p.Val787=)
|
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
|
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
|
|
|
|
NM_001352514.2(HLCS):c.2370G>C (p.Val790=)
|
|
|
|
NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)
|
|
|
|
NM_001352514.2(HLCS):c.2379del (p.Lys793fs)
|
|
|
|
NM_001352514.2(HLCS):c.2385C>T (p.Ile795=)
|
rs747302103
|
|
|
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
|
rs2123575791
|
|
|
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
|
rs2123575709
|
|
|
NM_001352514.2(HLCS):c.2398del (p.Asp800fs)
|
|
|
|
NM_001352514.2(HLCS):c.2403A>G (p.Lys801=)
|
|
|
|
NM_001352514.2(HLCS):c.2406G>A (p.Gly802=)
|
|
|
|
NM_001352514.2(HLCS):c.2409C>G (p.Pro803=)
|
rs763530346
|
|
|
NM_001352514.2(HLCS):c.2409C>T (p.Pro803=)
|
|
|
|
NM_001352514.2(HLCS):c.2412C>T (p.Asn804=)
|
rs2089605319
|
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
|
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
|
rs766430268
|
|
|
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
|
rs762915830
|
|
|
NM_001352514.2(HLCS):c.2424C>T (p.Pro808=)
|
rs762915830
|
|
|
NM_001352514.2(HLCS):c.2429A>G (p.Tyr810Cys)
|
|
|
|
NM_001352514.2(HLCS):c.2433C>T (p.Tyr811=)
|
|
|
|
NM_001352514.2(HLCS):c.2436A>G (p.Arg812=)
|
|
|
|
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
|
NM_001352514.2(HLCS):c.2450+20C>T
|
rs2123574898
|
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
|
NM_001352514.2(HLCS):c.2450+8C>T
|
rs2123575052
|
|
|
NM_001352514.2(HLCS):c.2450+9T>C
|
|
|
|
NM_001352514.2(HLCS):c.2451-13T>C
|
rs2123556883
|
|
|
NM_001352514.2(HLCS):c.2451-15G>C
|
|
|
|
NM_001352514.2(HLCS):c.2451-18G>A
|
|
|
|
NM_001352514.2(HLCS):c.2451-19C>A
|
|
|
|
NM_001352514.2(HLCS):c.2451-19C>G
|
|
|
|
NM_001352514.2(HLCS):c.2451-4del
|
|
|
|
NM_001352514.2(HLCS):c.2451-8C>T
|
rs373177254
|
|
|
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
|
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
|
NM_001352514.2(HLCS):c.2466T>C (p.His822=)
|
|
|
|
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
|
rs2123556668
|
|
|
NM_001352514.2(HLCS):c.2475C>T (p.Ser825=)
|
rs2089478015
|
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
|
NM_001352514.2(HLCS):c.2487A>G (p.Pro829=)
|
rs2123556491
|
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2496C>A (p.Ser832=)
|
|
|
|
NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)
|
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
|
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
|
rs147256659
|
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
|
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
|
rs768097284
|
|
|
NM_001352514.2(HLCS):c.2547C>T (p.Gly849=)
|
|
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
|
NM_001352514.2(HLCS):c.2565C>T (p.His855=)
|
|
|
|
NM_001352514.2(HLCS):c.2567C>G (p.Pro856Arg)
|
|
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
|
NM_001352514.2(HLCS):c.2577C>T (p.Asn859=)
|
|
|
|
NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)
|
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
|
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
|
|
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)
|
|
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
|
NM_001352514.2(HLCS):c.471A>C (p.Gly157=)
|
rs2146535946
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
|
NM_001352514.2(HLCS):c.493+10T>C
|
rs1601811088
|
|
|
NM_001352514.2(HLCS):c.493+12T>C
|
|
|
|
NM_001352514.2(HLCS):c.493+15A>G
|
|
|
|
NM_001352514.2(HLCS):c.493+18A>C
|
|
|
|
NM_001352514.2(HLCS):c.493+20G>A
|
|
|
|
NM_001352514.2(HLCS):c.494-17T>A
|
|
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
|
NM_001352514.2(HLCS):c.494-25TC[3]
|
|
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
|
NM_001352514.2(HLCS):c.494-25TC[6]
|
rs146532042
|
|
|
NM_001352514.2(HLCS):c.494-2A>T
|
|
|
|
NM_001352514.2(HLCS):c.494-5C>T
|
|
|
|
NM_001352514.2(HLCS):c.494-7G>A
|
|
|
|
NM_001352514.2(HLCS):c.494-7G>C
|
rs1437015433
|
|
|
NM_001352514.2(HLCS):c.494-8T>C
|
rs778287214
|
|
|
NM_001352514.2(HLCS):c.494-9A>T
|
|
|
|
NM_001352514.2(HLCS):c.494C>T (p.Ser165Leu)
|
|
|
|
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
|
|
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
|
|
|
|
NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
|
rs2066944309
|
|
|
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
|
|
|
|
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_001352514.2(HLCS):c.507G>A (p.Gln169=)
|
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
|
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
|
rs752570659
|
|
|
NM_001352514.2(HLCS):c.517C>T (p.Leu173=)
|
|
|
|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
|
NM_001352514.2(HLCS):c.529A>T (p.Lys177Ter)
|
|
|
|
NM_001352514.2(HLCS):c.531G>A (p.Lys177=)
|
|
|
|
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
|
rs2066942649
|
|
|
NM_001352514.2(HLCS):c.537G>A (p.Gln179=)
|
rs2146529501
|
|
|
NM_001352514.2(HLCS):c.546C>T (p.Asn182=)
|
|
|
|
NM_001352514.2(HLCS):c.555C>T (p.Ala185=)
|
|
|
|
NM_001352514.2(HLCS):c.567G>A (p.Glu189=)
|
rs61732504
|
|
|
NM_001352514.2(HLCS):c.570G>T (p.Pro190=)
|
|
|
|
NM_001352514.2(HLCS):c.579A>G (p.Glu193=)
|
rs2146529125
|
|
|
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
|
|
NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
|
|
|
|
NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
|
|
|
|
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
|
|
|
|
NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
|
|
|
|
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
|
|
|
|
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
|
rs2066937541
|
|
|
NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
|
|
|
|
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
|
|
|
|
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
|
|
|
|
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
|
|
|
|
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)
|
rs1555957134
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
|
NM_001352514.2(HLCS):c.678T>C (p.Ser226=)
|
rs2146528574
|
|
|
NM_001352514.2(HLCS):c.684T>G (p.Ser228=)
|
rs2146528551
|
|
|
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
|
rs2146528539
|
|
|
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)
|
rs1569218416
|
|
|
NM_001352514.2(HLCS):c.702G>A (p.Gly234=)
|
rs373193883
|
|
|
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
|
rs754558925
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
|
|
NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
|
|
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
|
NM_001352514.2(HLCS):c.741C>T (p.His247=)
|
rs761937078
|
|
|
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
|
rs751148714
|
|
|
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter)
|
rs937407062
|
|
|
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
|
|
|
|
NM_001352514.2(HLCS):c.783C>T (p.Asn261=)
|
rs1601805290
|
|
|
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
|
rs775055913
|
|
|
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
|
rs1228716242
|
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
|
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
|
|
|
|
NM_001352514.2(HLCS):c.816C>G (p.Ala272=)
|
rs376665169
|
|
|
NM_001352514.2(HLCS):c.828A>G (p.Pro276=)
|
rs2066924267
|
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
|
NM_001352514.2(HLCS):c.834T>C (p.Leu278=)
|
rs2146527642
|
|
|
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
|
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
|
NM_001352514.2(HLCS):c.854G>A (p.Ser285Asn)
|
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
|
NM_001352514.2(HLCS):c.873T>C (p.Asp291=)
|
|
|
|
NM_001352514.2(HLCS):c.879C>T (p.Thr293=)
|
|
|
|
NM_001352514.2(HLCS):c.882C>T (p.Ser294=)
|
|
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
|
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
|
rs1000269533
|
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
|
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
|
|
|
|
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
|
|
|
|
NM_001352514.2(HLCS):c.933C>T (p.Ile311=)
|
rs1057523220
|
|
|
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
|
|
|
|
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
|
rs1232499269
|
|
|
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
|
rs2146526787
|
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
|
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
|
rs185480832
|
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
|
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
|
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
|
NM_001352514.2(HLCS):c.963A>G (p.Glu321=)
|
rs767893846
|
|
|
NM_001352514.2(HLCS):c.966C>G (p.Ala322=)
|
|
|
|
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
|
|
|
|
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
|
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
|
NM_001352514.2(HLCS):c.990G>A (p.Arg330=)
|
rs771741236
|
|
|
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
|
|
|
|
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)
|
rs1245601073
|
|
|
NM_001352514.2(HLCS):c.999G>T (p.Leu333=)
|
rs1324605554
|
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
|
NM_001370658.1(BTD):c.-16-19T>C
|
|
|
|
NM_001370658.1(BTD):c.-16-2A>G
|
|
|
|
NM_001370658.1(BTD):c.-16-5T>C
|
|
|
|
NM_001370658.1(BTD):c.-16-7A>C
|
|
|
|
NM_001370658.1(BTD):c.-16-7A>G
|
|
|
|
NM_001370658.1(BTD):c.-16-7A>T
|
|
|
|
NM_001370658.1(BTD):c.-16-7del
|
|
|
|
NM_001370658.1(BTD):c.-17+10G>A
|
|
|
|
NM_001370658.1(BTD):c.-17+12_-17+27dup
|
|
|
|
NM_001370658.1(BTD):c.-17+13C>G
|
|
|
|
NM_001370658.1(BTD):c.-17+16G>A
|
|
|
|
NM_001370658.1(BTD):c.-17+16G>C
|
|
|
|
NM_001370658.1(BTD):c.-17+19_-17+39del
|
rs1559571027
|
|
|
NM_001370658.1(BTD):c.-17+20C>A
|
|
|
|
NM_001370658.1(BTD):c.-17+20_-17+40dup
|
|
|
|
NM_001370658.1(BTD):c.-17+23_-17+27dup
|
rs775790954
|
|
|
NM_001370658.1(BTD):c.-17+7A>G
|
|
|
|
NM_001370658.1(BTD):c.-17+7A>T
|
|
|
|
NM_001370658.1(BTD):c.-17+8G>C
|
|
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
|
NM_001370658.1(BTD):c.-18del
|
rs2064260290
|
|
|
NM_001370658.1(BTD):c.-1T>C
|
|
|
|
NM_001370658.1(BTD):c.-28C>T
|
rs2125312689
|
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
|
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
|
|
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
|
NM_001370658.1(BTD):c.1026A>G (p.Leu342=)
|
rs1367244547
|
|
|
NM_001370658.1(BTD):c.1029A>C (p.Lys343Asn)
|
|
|
|
NM_001370658.1(BTD):c.1035G>A (p.Leu345=)
|
rs768786956
|
|
|
NM_001370658.1(BTD):c.1038A>C (p.Ser346=)
|
|
|
|
NM_001370658.1(BTD):c.1041C>A (p.Gly347=)
|
rs142421934
|
|
|
NM_001370658.1(BTD):c.1047G>T (p.Pro349=)
|
|
|
|
NM_001370658.1(BTD):c.1068G>A (p.Gln356=)
|
rs891263072
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
|
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
|
rs763540316
|
|
|
NM_001370658.1(BTD):c.1077C>T (p.His359=)
|
|
|
|
NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)
|
|
|
|
NM_001370658.1(BTD):c.1086G>A (p.Glu362=)
|
rs1559600186
|
|
|
NM_001370658.1(BTD):c.1092C>A (p.Thr364=)
|
rs753278397
|
|
|
NM_001370658.1(BTD):c.1092dup (p.Lys365fs)
|
|
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
|
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
|
|
|
|
NM_001370658.1(BTD):c.1104G>T (p.Val368=)
|
rs750109648
|
|
|
NM_001370658.1(BTD):c.1110T>C (p.Ala370=)
|
rs1473669802
|
|
|
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
|
rs2065654912
|
|
|
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)
|
rs397514339
|
|
|
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
|
|
|
|
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)
|
|
|
|
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)
|
|
|
|
NM_001370658.1(BTD):c.1143C>T (p.Asp381=)
|
rs2125504297
|
|
|
NM_001370658.1(BTD):c.114T>C (p.Tyr38=)
|
rs2125453888
|
|
|
NM_001370658.1(BTD):c.1158C>A (p.Val386=)
|
rs956882463
|
|
|
NM_001370658.1(BTD):c.1164C>G (p.Val388=)
|
|
|
|
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
|
|
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
|
NM_001370658.1(BTD):c.1170A>C (p.Gly390=)
|
rs975896326
|
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
|
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
|
|
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
|
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)
|
rs368320941
|
|
|
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)
|
rs2125504798
|
|
|
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
|
|
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
|
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
|
|
|
|
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
|
|
|
|
NM_001370658.1(BTD):c.1203C>T (p.Gly401=)
|
rs2125504914
|
|
|
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)
|
rs2125504955
|
|
|
NM_001370658.1(BTD):c.1207del (p.Cys403fs)
|
|
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
|
NM_001370658.1(BTD):c.1214_1216del (p.Tyr405del)
|
|
|
|
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
|
|
|
|
NM_001370658.1(BTD):c.1220_1224del (p.Leu407fs)
|
|
|
|
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)
|
rs2125505114
|
|
|
NM_001370658.1(BTD):c.1236C>T (p.Thr412=)
|
rs1575030932
|
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
|
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)
|
rs1208591351
|
|
|
NM_001370658.1(BTD):c.1251G>C (p.Leu417=)
|
rs771116095
|
|
|
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
|
|
|
|
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)
|
rs397514415
|
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
|
NM_001370658.1(BTD):c.1254_1298dup (p.Tyr433_Tyr434insAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyr)
|
|
|
|
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)
|
|
|
|
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
|
|
|
|
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
|
|
|
|
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
|
|
|
|
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
|
|
|
|
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
|
rs776369447
|
|
|
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
|
|
|
|
NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr)
|
|
|
|
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)
|
rs2065662435
|
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
|
NM_001370658.1(BTD):c.1275G>T (p.Gly425=)
|
rs2065662696
|
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
|
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)
|
rs2065663213
|
|
|
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)
|
rs559136372
|
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
|
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)
|
rs2125505641
|
|
|
NM_001370658.1(BTD):c.129T>C (p.Tyr43=)
|
rs2125453999
|
|
|
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
|
|
|
|
NM_001370658.1(BTD):c.1309G>A (p.Val437Met)
|
rs146600671
|
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
|
NM_001370658.1(BTD):c.1311G>C (p.Val437=)
|
|
|
|
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
|
|
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
|
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
|
rs397514436
|
|
|
NM_001370658.1(BTD):c.1341C>A (p.Gly447=)
|
|
|
|
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
|
|
|
|
NM_001370658.1(BTD):c.134A>G (p.His45Arg)
|
rs397514341
|
|
|
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
|
|
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
|
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
|
|
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
|
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
|
|
|
|
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
|
|
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
|
NM_001370658.1(BTD):c.1396C>T (p.Leu466=)
|
rs2125506331
|
|
|
NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)
|
rs397514422
|
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
|
NM_001370658.1(BTD):c.1404C>A (p.Gly468=)
|
|
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
|
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)
|
rs796051941
|
|
|
NM_001370658.1(BTD):c.1419C>G (p.Ser473=)
|
rs1269007233
|
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
|
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
|
|
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
|
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
|
|
|
|
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)
|
rs1205964567
|
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
|
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
|
|
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
|
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
|
|
|
|
NM_001370658.1(BTD):c.1485G>A (p.Glu495=)
|
|
|
|
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)
|
rs1553654220
|
|
|
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
|
rs199859507
|
|
|
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
|
|
|
|
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
|
|
|
|
NM_001370658.1(BTD):c.1515G>A (p.Arg505=)
|
rs2125507062
|
|
|
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
|
|
|
|
NM_001370658.1(BTD):c.1527G>A (p.Gly509=)
|
rs1388523400
|
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
|
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
|
|
|
|
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)
|
rs771537277
|
|
|
NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)
|
|
|
|
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)
|
rs397514428
|
|
|
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
|
|
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
|
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)
|
rs397514429
|
|
|
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
|
|
|
|
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
|
rs2065326975
|
|
|
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
|
|
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
|
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
|
|
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
|
NM_001370658.1(BTD):c.204G>A (p.Gln68=)
|
rs781457122
|
|
|
NM_001370658.1(BTD):c.204G>C (p.Gln68His)
|
|
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
|
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
|
|
|
|
NM_001370658.1(BTD):c.225G>A (p.Gln75=)
|
rs1423985186
|
|
|
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
|
|
|
|
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)
|
rs397514350
|
|
|
NM_001370658.1(BTD):c.249+11T>C
|
|
|
|
NM_001370658.1(BTD):c.249+16G>A
|
|
|
|
NM_001370658.1(BTD):c.249+19A>C
|
|
|
|
NM_001370658.1(BTD):c.249+5G>T
|
rs2065329555
|
|
|
NM_001370658.1(BTD):c.250-14G>A
|
|
|
|
NM_001370658.1(BTD):c.250-15T>C
|
|
|
|
NM_001370658.1(BTD):c.250-16A>T
|
|
|
|
NM_001370658.1(BTD):c.250-18T>C
|
|
|
|
NM_001370658.1(BTD):c.250-1G>A
|
|
|
|
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
|
|
|
|
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
|
|
|
|
NM_001370658.1(BTD):c.255A>G (p.Val85=)
|
|
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
|
NM_001370658.1(BTD):c.267G>T (p.Val89=)
|
rs2125485561
|
|
|
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
|
rs1553653070
|
|
|
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)
|
rs397514352
|
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
|
NM_001370658.1(BTD):c.279T>C (p.Asp93=)
|
|
|
|
NM_001370658.1(BTD):c.282del (p.Ile95fs)
|
rs2065521862
|
|
|
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)
|
rs776422082
|
|
|
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
|
|
|
|
NM_001370658.1(BTD):c.311C>T (p.Ser104Phe)
|
|
|
|
NM_001370658.1(BTD):c.325T>C (p.Leu109=)
|
|
|
|
NM_001370658.1(BTD):c.339G>T (p.Pro113=)
|
rs181743799
|
|
|
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
|
|
|
|
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
|
|
|
|
NM_001370658.1(BTD):c.345C>T (p.Pro115=)
|
rs767937184
|
|
|
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)
|
|
|
|
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
|
|
|
|
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
|
|
|
|
NM_001370658.1(BTD):c.357G>A (p.Arg119=)
|
rs2125486415
|
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
|
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
|
|
|
|
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
|
|
|
|
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
|
|
|
|
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
|
|
|
|
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
|
|
|
|
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
|
rs137877018
|
|
|
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
|
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
|
NM_001370658.1(BTD):c.399+10G>A
|
|
|
|
NM_001370658.1(BTD):c.399+19C>T
|
|
|
|
NM_001370658.1(BTD):c.399+2T>G
|
|
|
|
NM_001370658.1(BTD):c.399+6dup
|
|
|
|
NM_001370658.1(BTD):c.399+8C>T
|
|
|
|
NM_001370658.1(BTD):c.399+8del
|
rs2125487004
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
|
NM_001370658.1(BTD):c.400-13T>C
|
|
|
|
NM_001370658.1(BTD):c.400-16C>T
|
|
|
|
NM_001370658.1(BTD):c.400-18C>T
|
|
|
|
NM_001370658.1(BTD):c.400-19A>T
|
|
|
|
NM_001370658.1(BTD):c.400-6C>T
|
rs2125499988
|
|
|
NM_001370658.1(BTD):c.400-7C>T
|
|
|
|
NM_001370658.1(BTD):c.400-8T>C
|
rs758512428
|
|
|
NM_001370658.1(BTD):c.400-8del
|
|
|
|
NM_001370658.1(BTD):c.400-8dup
|
rs397514361
|
|
|
NM_001370658.1(BTD):c.402G>A (p.Val134=)
|
rs1003151133
|
|
|
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
|
|
|
|
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
|
|
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
|
NM_001370658.1(BTD):c.417T>C (p.Ser139=)
|
rs2125500181
|
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
|
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
|
|
|
|
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)
|
rs745343884
|
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
|
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
|
|
|
|
NM_001370658.1(BTD):c.429C>T (p.Ile143=)
|
rs2065628963
|
|
|
NM_001370658.1(BTD):c.430del (p.Arg144fs)
|
|
|
|
NM_001370658.1(BTD):c.435A>T (p.Gly145=)
|
rs2125500346
|
|
|
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)
|
rs184742694
|
|
|
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
|
|
|
|
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
|
|
|
|
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
|
|
|
|
NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer)
|
rs2125500515
|
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
|
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)
|
|
|
|
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
|
|
|
|
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
|
|
|
|
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
|
rs955385869
|
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
|
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
|
rs139829181
|
|
|
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)
|
rs766476582
|
|
|
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
|
|
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
|
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)
|
rs397514371
|
|
|
NM_001370658.1(BTD):c.525C>T (p.Asn175=)
|
rs2125500784
|
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
|
NM_001370658.1(BTD):c.534C>G (p.Val178=)
|
rs757159632
|
|
|
NM_001370658.1(BTD):c.534_536del (p.Val179del)
|
rs397514373
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
|
NM_001370658.1(BTD):c.553A>G (p.Thr185Ala)
|
|
|
|
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
|
|
|
|
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
|
|
|
|
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
|
|
|
|
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)
|
rs2125453296
|
|
|
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)
|
rs2065635815
|
|
|
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
|
|
|
|
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
|
|
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
|
NM_001370658.1(BTD):c.604G>C (p.Asp202His)
|
rs200337373
|
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
|
NM_001370658.1(BTD):c.624T>C (p.Asp208=)
|
|
|
|
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
|
|
|
|
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
|
|
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
|
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
|
|
|
|
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
|
|
|
|
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)
|
|
|
|
NM_001370658.1(BTD):c.672A>G (p.Thr224=)
|
rs777224767
|
|
|
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
|
rs398123140
|
|
|
NM_001370658.1(BTD):c.686del (p.Leu229fs)
|
|
|
|
NM_001370658.1(BTD):c.687G>A (p.Leu229=)
|
rs2125501752
|
|
|
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)
|
rs397514438
|
|
|
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
|
|
|
|
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)
|
rs1190721481
|
|
|
NM_001370658.1(BTD):c.711C>T (p.Val237=)
|
|
|
|
NM_001370658.1(BTD):c.714C>T (p.Leu238=)
|
rs2125501926
|
|
|
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
|
|
|
|
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
|
|
|
|
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
|
|
|
|
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)
|
rs2125502078
|
|
|
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
|
|
|
|
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
|
|
|
|
NM_001370658.1(BTD):c.762C>T (p.Asn254=)
|
rs2065642615
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
|
NM_001370658.1(BTD):c.768C>A (p.Leu256=)
|
rs775730599
|
|
|
NM_001370658.1(BTD):c.768C>G (p.Leu256=)
|
|
|
|
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)
|
rs397514336
|
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
|
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)
|
rs549204682
|
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
|
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
|
|
|
|
NM_001370658.1(BTD):c.79G>C (p.Glu27Gln)
|
|
|
|
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)
|
rs397514334
|
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
|
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
|
|
|
|
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)
|
rs762757117
|
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
|
NM_001370658.1(BTD):c.81G>A (p.Glu27=)
|
rs530566306
|
|
|
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
|
|
|
|
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
|
|
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
|
NM_001370658.1(BTD):c.836C>T (p.Ala279Val)
|
rs397514392
|
|
|
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)
|
rs398123142
|
|
|
NM_001370658.1(BTD):c.845A>G (p.His282Arg)
|
|
|
|
NM_001370658.1(BTD):c.846C>G (p.His282Gln)
|
rs2125502649
|
|
|
NM_001370658.1(BTD):c.846C>T (p.His282=)
|
|
|
|
NM_001370658.1(BTD):c.84C>T (p.Ser28=)
|
|
|
|
NM_001370658.1(BTD):c.855T>G (p.Val285=)
|
rs2125502708
|
|
|
NM_001370658.1(BTD):c.858G>T (p.Leu286=)
|
|
|
|
NM_001370658.1(BTD):c.867A>G (p.Thr289=)
|
|
|
|
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)
|
rs397514393
|
|
|
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
|
|
|
|
NM_001370658.1(BTD):c.872G>A (p.Ser291Asn)
|
rs397514394
|
|
|
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
|
|
|
|
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
|
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
|
NM_001370658.1(BTD):c.894G>A (p.Glu298=)
|
rs2125502955
|
|
|
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
|
|
|
|
NM_001370658.1(BTD):c.901dup (p.Trp301fs)
|
|
|
|
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
|
|
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
|
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)
|
rs397514433
|
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
|
|
|
NM_001370658.1(BTD):c.950del (p.Val317fs)
|
rs2125503248
|
|
|
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
|
|
|
|
NM_001370658.1(BTD):c.963A>T (p.Pro321=)
|
rs1313683563
|
|
|
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
|
|
|
|
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
|
|
|
|
NM_001370658.1(BTD):c.96T>C (p.His32=)
|
|
|
|
NM_001370658.1(BTD):c.975T>C (p.Ile325=)
|
|
|
|
NM_001370658.1(BTD):c.978T>G (p.Gly326=)
|
rs2125503475
|
|
|
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
|
|
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
|
NM_001370658.1(BTD):c.99C>T (p.His33=)
|
rs397514337
|
|
|
NM_001386678.1(ACAT1):c.120+2267_120+2268del
|
|
|
|
NM_001609.4(ACADSB):c.1008G>A (p.Val336=)
|
rs1240421187
|
|
|
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
|
rs57339164
|
|
|
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
|
|
|
|
NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)
|
|
|
|
NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)
|
|
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
|
NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)
|
|
|
|
NM_001609.4(ACADSB):c.1128+11_1128+26del
|
|
|
|
NM_001609.4(ACADSB):c.1128+1_1128+3del
|
rs1228768873
|
|
|
NM_001609.4(ACADSB):c.1128+25_1128+26del
|
|
|
|
NM_001609.4(ACADSB):c.1128+2_1128+3insTA
|
rs1554874107
|
|
|
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
|
|
|
|
NM_001609.4(ACADSB):c.1170G>A (p.Gly390=)
|
|
|
|
NM_001609.4(ACADSB):c.1170G>T (p.Gly390=)
|
rs886046781
|
|
|
NM_001609.4(ACADSB):c.1172del (p.Gly391fs)
|
|
|
|
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
|
|
|
|
NM_001609.4(ACADSB):c.1228+12T>G
|
|
|
|
NM_001609.4(ACADSB):c.1228+1G>A
|
rs943046481
|
|
|
NM_001609.4(ACADSB):c.1228+20_1228+21del
|
rs11307362
|
|
|
NM_001609.4(ACADSB):c.1228+21del
|
rs11307362
|
|
|
NM_001609.4(ACADSB):c.1228+7A>G
|
|
|
|
NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)
|
|
|
|
NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)
|
|
|
|
NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr)
|
rs1430062937
|
|
|
NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)
|
rs2133445397
|
|
|
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)
|
rs1370145865
|
|
|
NM_001609.4(ACADSB):c.202+1G>C
|
|
|
|
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
|
rs1179957829
|
|
|
NM_001609.4(ACADSB):c.261G>A (p.Ser87=)
|
|
|
|
NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)
|
|
|
|
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg)
|
rs1564751382
|
|
|
NM_001609.4(ACADSB):c.336A>G (p.Gly112=)
|
|
|
|
NM_001609.4(ACADSB):c.356del (p.Leu119fs)
|
|
|
|
NM_001609.4(ACADSB):c.369C>T (p.Leu123=)
|
|
|
|
NM_001609.4(ACADSB):c.370G>A (p.Val124Met)
|
|
|
|
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)
|
rs375217368
|
|
|
NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)
|
rs753508431
|
|
|
NM_001609.4(ACADSB):c.42G>A (p.Leu14=)
|
rs745863047
|
|
|
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
|
|
|
|
NM_001609.4(ACADSB):c.45A>C (p.Leu15=)
|
rs564497027
|
|
|
NM_001609.4(ACADSB):c.511-14del
|
|
|
|
NM_001609.4(ACADSB):c.511-8A>G
|
|
|
|
NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)
|
|
|
|
NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)
|
|
|
|
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys)
|
rs886046778
|
|
|
NM_001609.4(ACADSB):c.548G>A (p.Ser183Asn)
|
|
|
|
NM_001609.4(ACADSB):c.596A>G (p.Tyr199Cys)
|
|
|
|
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
|
|
|
|
NM_001609.4(ACADSB):c.647T>C (p.Leu216Pro)
|
|
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
|
|
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
|
|
|
|
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
|
|
|
|
NM_001609.4(ACADSB):c.734A>G (p.His245Arg)
|
|
|
|
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
|
|
|
|
NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)
|
|
|
|
NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)
|
|
|
|
NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)
|
|
|
|
NM_001609.4(ACADSB):c.803T>C (p.Val268Ala)
|
rs2133483475
|
|
|
NM_001609.4(ACADSB):c.808-18G>A
|
|
|
|
NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer)
|
|
|
|
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
|
|
|
|
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
|
|
|
|
NM_001609.4(ACADSB):c.900+7C>G
|
rs2133484739
|
|
|
NM_001609.4(ACADSB):c.900G>C (p.Gln300His)
|
|
|
|
NM_001609.4(ACADSB):c.901-11T>G
|
|
|
|
NM_001609.4(ACADSB):c.901-2A>G
|
|
|
|
NM_001609.4(ACADSB):c.939T>C (p.Ile313=)
|
|
|
|
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu)
|
rs1554873785
|
|
|
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
|
|
|
|
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
|
|
|
|
NM_001698.3(AUH):c.12G>A (p.Ala4=)
|
|
|
|
NM_001698.3(AUH):c.12G>C (p.Ala4=)
|
|
|
|
NM_001698.3(AUH):c.153C>T (p.Ala51=)
|
|
|
|
NM_001698.3(AUH):c.156G>C (p.Gln52His)
|
|
|
|
NM_001698.3(AUH):c.163G>C (p.Val55Leu)
|
|
|
|
NM_001698.3(AUH):c.174C>T (p.Ala58=)
|
|
|
|
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
|
|
|
|
NM_001698.3(AUH):c.197G>T (p.Gly66Val)
|
rs1323577454
|
|
|
NM_001698.3(AUH):c.197del (p.Gly66fs)
|
rs1219516037
|
|
|
NM_001698.3(AUH):c.197dup (p.Tyr67fs)
|
|
|
|
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
|
|
|
|
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
|
|
|
|
NM_001698.3(AUH):c.211A>C (p.Met71Leu)
|
rs756127206
|
|
|
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
|
|
|
|
NM_001698.3(AUH):c.221A>C (p.Glu74Ala)
|
|
|
|
NM_001698.3(AUH):c.231G>C (p.Leu77=)
|
|
|
|
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
|
|
|
|
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
|
|
|
|
NM_001698.3(AUH):c.243C>G (p.His81Gln)
|
rs372245304
|
|
|
NM_001698.3(AUH):c.261A>T (p.Arg87=)
|
rs2132125368
|
|
|
NM_001698.3(AUH):c.262+10G>A
|
|
|
|
NM_001698.3(AUH):c.262+8G>A
|
|
|
|
NM_001698.3(AUH):c.263-10C>T
|
|
|
|
NM_001698.3(AUH):c.263-15T>C
|
rs1341392485
|
|
|
NM_001698.3(AUH):c.263-5_263-2del
|
rs752149463
|
|
|
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del)
|
rs2132084310
|
|
|
NM_001698.3(AUH):c.304T>A (p.Ser102Thr)
|
rs1554721818
|
|
|
NM_001698.3(AUH):c.31G>A (p.Ala11Thr)
|
|
|
|
NM_001698.3(AUH):c.331-12A>G
|
|
|
|
NM_001698.3(AUH):c.331-14C>T
|
|
|
|
NM_001698.3(AUH):c.331-20T>A
|
|
|
|
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
|
|
|
|
NM_001698.3(AUH):c.342T>C (p.Ala114=)
|
|
|
|
NM_001698.3(AUH):c.350C>T (p.Ala117Val)
|
rs1832379274
|
|
|
NM_001698.3(AUH):c.373C>T (p.Arg125Trp)
|
rs200030276
|
|
|
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
|
|
|
|
NM_001698.3(AUH):c.385A>G (p.Ile129Val)
|
rs1423043030
|
|
|
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
|
rs1423043030
|
|
|
NM_001698.3(AUH):c.39dup (p.Ser14fs)
|
|
|
|
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
|
|
|
|
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
|
rs1482564472
|
|
|
NM_001698.3(AUH):c.418+5G>A
|
|
|
|
NM_001698.3(AUH):c.419-2A>G
|
|
|
|
NM_001698.3(AUH):c.419-5T>G
|
|
|
|
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
|
|
|
|
NM_001698.3(AUH):c.430A>G (p.Lys144Glu)
|
rs2131861010
|
|
|
NM_001698.3(AUH):c.434A>C (p.Glu145Ala)
|
rs2131860995
|
|
|
NM_001698.3(AUH):c.445A>G (p.Met149Val)
|
|
|
|
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
|
|
|
|
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
|
|
|
|
NM_001698.3(AUH):c.471del (p.Phe157fs)
|
|
|
|
NM_001698.3(AUH):c.474C>T (p.Val158=)
|
|
|
|
NM_001698.3(AUH):c.47A>G (p.His16Arg)
|
|
|
|
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
|
|
|
|
NM_001698.3(AUH):c.498C>T (p.Asn166=)
|
|
|
|
NM_001698.3(AUH):c.499G>A (p.Asp167Asn)
|
rs776409546
|
|
|
NM_001698.3(AUH):c.505+18C>G
|
|
|
|
NM_001698.3(AUH):c.505+5G>A
|
|
|
|
NM_001698.3(AUH):c.505+7A>G
|
|
|
|
NM_001698.3(AUH):c.506-6T>C
|
|
|
|
NM_001698.3(AUH):c.506-8C>T
|
|
|
|
NM_001698.3(AUH):c.516dup (p.Val173fs)
|
|
|
|
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
|
|
|
|
NM_001698.3(AUH):c.546C>T (p.Leu182=)
|
|
|
|
NM_001698.3(AUH):c.573T>A (p.Ala191=)
|
|
|
|
NM_001698.3(AUH):c.578C>T (p.Ala193Val)
|
rs2131662764
|
|
|
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)
|
rs1827482942
|
|
|
NM_001698.3(AUH):c.598+11A>T
|
rs1406913489
|
|
|
NM_001698.3(AUH):c.598+9_598+12del
|
rs749186187
|
|
|
NM_001698.3(AUH):c.599-2A>G
|
rs1587799880
|
|
|
NM_001698.3(AUH):c.599-7G>A
|
|
|
|
NM_001698.3(AUH):c.599-8C>T
|
|
|
|
NM_001698.3(AUH):c.623T>C (p.Val208Ala)
|
rs1050057219
|
|
|
NM_001698.3(AUH):c.655+11T>A
|
|
|
|
NM_001698.3(AUH):c.655+3A>T
|
|
|
|
NM_001698.3(AUH):c.656-17T>G
|
|
|
|
NM_001698.3(AUH):c.656G>C (p.Gly219Ala)
|
rs1827104191
|
|
|
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
|
|
|
|
NM_001698.3(AUH):c.66G>C (p.Leu22=)
|
|
|
|
NM_001698.3(AUH):c.677G>A (p.Arg226His)
|
|
|
|
NM_001698.3(AUH):c.690G>A (p.Met230Ile)
|
rs1403383788
|
|
|
NM_001698.3(AUH):c.713T>C (p.Phe238Ser)
|
rs1587621572
|
|
|
NM_001698.3(AUH):c.714C>T (p.Phe238=)
|
rs1173204062
|
|
|
NM_001698.3(AUH):c.736A>G (p.Lys246Glu)
|
rs2131215718
|
|
|
NM_001698.3(AUH):c.738A>G (p.Lys246=)
|
|
|
|
NM_001698.3(AUH):c.738A>T (p.Lys246Asn)
|
|
|
|
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
|
|
|
|
NM_001698.3(AUH):c.742G>A (p.Ala248Thr)
|
rs755299132
|
|
|
NM_001698.3(AUH):c.768C>T (p.His256=)
|
|
|
|
NM_001698.3(AUH):c.780G>C (p.Gln260His)
|
|
|
|
NM_001698.3(AUH):c.804C>T (p.Tyr268=)
|
rs775342115
|
|
|
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
|
|
|
|
NM_001698.3(AUH):c.825G>A (p.Ala275=)
|
|
|
|
NM_001698.3(AUH):c.833T>C (p.Phe278Ser)
|
rs1398261487
|
|
|
NM_001698.3(AUH):c.856A>G (p.Met286Val)
|
rs776767438
|
|
|
NM_001698.3(AUH):c.894+14dup
|
rs2131194109
|
|
|
NM_001698.3(AUH):c.894+19G>C
|
rs377735590
|
|
|
NM_001698.3(AUH):c.895-9del
|
rs1194639501
|
|
|
NM_001698.3(AUH):c.897C>T (p.Val299=)
|
|
|
|
NM_001698.3(AUH):c.909A>C (p.Thr303=)
|
rs779607746
|
|
|
NM_001698.3(AUH):c.942+4dup
|
rs1554688047
|
|
|
NM_001698.3(AUH):c.943-16A>G
|
|
|
|
NM_001698.3(AUH):c.943-6del
|
rs1826708001
|
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
|
NM_001698.3(AUH):c.95del (p.Pro32fs)
|
|
|
|
NM_001698.3(AUH):c.96G>A (p.Pro32=)
|
|
|
|
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
|
|
|
|
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
|
|
|
|
NM_001698.3(AUH):c.996G>A (p.Arg332=)
|
|
|
|
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)
|
|
|
|
NM_002225.5(IVD):c.-4A>G
|
rs2141288785
|
|
|
NM_002225.5(IVD):c.1005G>C (p.Ala335=)
|
rs570369496
|
|
|
NM_002225.5(IVD):c.1023C>T (p.Tyr341=)
|
rs2141360315
|
|
|
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
|
|
|
|
NM_002225.5(IVD):c.1029C>T (p.Val343=)
|
rs896815486
|
|
|
NM_002225.5(IVD):c.102C>G (p.Pro34=)
|
rs2141289869
|
|
|
NM_002225.5(IVD):c.102C>T (p.Pro34=)
|
|
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
|
NM_002225.5(IVD):c.1044T>C (p.Asp348=)
|
rs2141360469
|
|
|
NM_002225.5(IVD):c.1059T>C (p.Thr353=)
|
rs2141360637
|
|
|
NM_002225.5(IVD):c.1065+11G>C
|
|
|
|
NM_002225.5(IVD):c.1065+13C>T
|
|
|
|
NM_002225.5(IVD):c.1065+16A>C
|
|
|
|
NM_002225.5(IVD):c.1065+19C>T
|
|
|
|
NM_002225.5(IVD):c.1065+20G>A
|
|
|
|
NM_002225.5(IVD):c.1065+7G>A
|
rs1238566157
|
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
|
NM_002225.5(IVD):c.1066-18C>G
|
|
|
|
NM_002225.5(IVD):c.1066-18C>T
|
|
|
|
NM_002225.5(IVD):c.1066-19C>T
|
|
|
|
NM_002225.5(IVD):c.1066-20A>G
|
|
|
|
NM_002225.5(IVD):c.1066-4G>T
|
|
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
|
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
|
|
|
|
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs)
|
rs1891674455
|
|
|
NM_002225.5(IVD):c.107A>G (p.Asp36Gly)
|
rs2141289941
|
|
|
NM_002225.5(IVD):c.1080G>T (p.Val360=)
|
|
|
|
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
|
|
|
|
NM_002225.5(IVD):c.1092A>G (p.Ser364=)
|
rs2141361852
|
|
|
NM_002225.5(IVD):c.1092A>T (p.Ser364=)
|
|
|
|
NM_002225.5(IVD):c.1095T>C (p.Ala365=)
|
rs1595790601
|
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
|
NM_002225.5(IVD):c.1104C>T (p.Ala368=)
|
rs1050218
|
|
|
NM_002225.5(IVD):c.1107A>C (p.Thr369=)
|
|
|
|
NM_002225.5(IVD):c.1107A>G (p.Thr369=)
|
rs1286789645
|
|
|
NM_002225.5(IVD):c.1110G>A (p.Gln370=)
|
|
|
|
NM_002225.5(IVD):c.1119G>A (p.Leu373=)
|
rs1891680267
|
|
|
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
|
rs1566941619
|
|
|
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
|
rs1469021843
|
|
|
NM_002225.5(IVD):c.1138+10C>A
|
|
|
|
NM_002225.5(IVD):c.1138+13C>A
|
|
|
|
NM_002225.5(IVD):c.1138+14A>C
|
|
|
|
NM_002225.5(IVD):c.1138+19C>G
|
|
|
|
NM_002225.5(IVD):c.1138+20C>T
|
|
|
|
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
|
rs1891683650
|
|
|
NM_002225.5(IVD):c.1139-10C>G
|
|
|
|
NM_002225.5(IVD):c.1139-11C>A
|
|
|
|
NM_002225.5(IVD):c.1139-11C>G
|
|
|
|
NM_002225.5(IVD):c.1139-12C>T
|
|
|
|
NM_002225.5(IVD):c.1139-16C>T
|
|
|
|
NM_002225.5(IVD):c.1139-18C>T
|
|
|
|
NM_002225.5(IVD):c.1139-19G>T
|
|
|
|
NM_002225.5(IVD):c.1139-20T>C
|
|
|
|
NM_002225.5(IVD):c.1139-4G>A
|
|
|
|
NM_002225.5(IVD):c.1139-5T>G
|
|
|
|
NM_002225.5(IVD):c.1139-7G>A
|
rs2141373271
|
|
|
NM_002225.5(IVD):c.114A>G (p.Ala38=)
|
|
|
|
NM_002225.5(IVD):c.1155C>A (p.Ile385=)
|
|
|
|
NM_002225.5(IVD):c.1155C>T (p.Ile385=)
|
|
|
|
NM_002225.5(IVD):c.1167C>T (p.Pro389=)
|
rs2141373519
|
|
|
NM_002225.5(IVD):c.1179T>C (p.Phe393=)
|
|
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
|
NM_002225.5(IVD):c.1188T>C (p.Asp396=)
|
|
|
|
NM_002225.5(IVD):c.1197G>A (p.Leu399=)
|
|
|
|
NM_002225.5(IVD):c.1201G>T (p.Glu401Ter)
|
|
|
|
NM_002225.5(IVD):c.1204_1210del (p.Ile402fs)
|
|
|
|
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
|
|
|
|
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)
|
|
|
|
NM_002225.5(IVD):c.120T>C (p.Asn40=)
|
|
|
|
NM_002225.5(IVD):c.1212T>G (p.Ala404=)
|
|
|
|
NM_002225.5(IVD):c.1221C>T (p.Ser407=)
|
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
|
NM_002225.5(IVD):c.123G>A (p.Gly41=)
|
|
|
|
NM_002225.5(IVD):c.1242C>A (p.Ile414=)
|
|
|
|
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
|
|
|
|
NM_002225.5(IVD):c.1242C>T (p.Ile414=)
|
rs756694379
|
|
|
NM_002225.5(IVD):c.124C>T (p.Leu42=)
|
|
|
|
NM_002225.5(IVD):c.1256A>G (p.Asn419Ser)
|
|
|
|
NM_002225.5(IVD):c.125T>A (p.Leu42Gln)
|
rs121434284
|
|
|
NM_002225.5(IVD):c.125T>G (p.Leu42Arg)
|
rs121434284
|
|
|
NM_002225.5(IVD):c.126A>C (p.Leu42=)
|
|
|
|
NM_002225.5(IVD):c.126A>G (p.Leu42=)
|
|
|
|
NM_002225.5(IVD):c.129C>A (p.Ser43Arg)
|
rs918899977
|
|
|
NM_002225.5(IVD):c.12G>C (p.Ala4=)
|
|
|
|
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
|
rs1890355188
|
|
|
NM_002225.5(IVD):c.142C>G (p.Gln48Glu)
|
rs771280106
|
|
|
NM_002225.5(IVD):c.144+10C>G
|
rs2141290384
|
|
|
NM_002225.5(IVD):c.144+15C>T
|
|
|
|
NM_002225.5(IVD):c.144+17C>T
|
|
|
|
NM_002225.5(IVD):c.144+18C>T
|
|
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
|
NM_002225.5(IVD):c.144+1G>C
|
|
|
|
NM_002225.5(IVD):c.144+20del
|
|
|
|
NM_002225.5(IVD):c.144+4A>G
|
|
|
|
NM_002225.5(IVD):c.144+7A>C
|
rs1595750832
|
|
|
NM_002225.5(IVD):c.144+8G>A
|
rs1248918125
|
|
|
NM_002225.5(IVD):c.145-10C>T
|
rs1451681639
|
|
|
NM_002225.5(IVD):c.145-14C>T
|
|
|
|
NM_002225.5(IVD):c.145-19T>C
|
|
|
|
NM_002225.5(IVD):c.145-2A>T
|
|
|
|
NM_002225.5(IVD):c.145-5A>T
|
|
|
|
NM_002225.5(IVD):c.145-7C>T
|
rs2141301246
|
|
|
NM_002225.5(IVD):c.145-8C>G
|
|
|
|
NM_002225.5(IVD):c.145-8C>T
|
rs1890586123
|
|
|
NM_002225.5(IVD):c.145-9T>C
|
|
|
|
NM_002225.5(IVD):c.147T>C (p.Leu49=)
|
rs2141301309
|
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
|
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
|
|
|
|
NM_002225.5(IVD):c.150del (p.Gln51fs)
|
rs2141301396
|
|
|
NM_002225.5(IVD):c.156C>G (p.Thr52=)
|
rs2141301442
|
|
|
NM_002225.5(IVD):c.15T>C (p.Thr5=)
|
rs2141289023
|
|
|
NM_002225.5(IVD):c.162T>C (p.Ala54=)
|
|
|
|
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)
|
|
|
|
NM_002225.5(IVD):c.174G>A (p.Gln58=)
|
rs2141301579
|
|
|
NM_002225.5(IVD):c.177G>A (p.Glu59=)
|
|
|
|
NM_002225.5(IVD):c.179A>C (p.His60Pro)
|
|
|
|
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
|
rs748160492
|
|
|
NM_002225.5(IVD):c.181C>T (p.Leu61=)
|
|
|
|
NM_002225.5(IVD):c.192G>A (p.Lys64=)
|
|
|
|
NM_002225.5(IVD):c.195C>T (p.Ala65=)
|
rs764288165
|
|
|
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
|
rs199865931
|
|
|
NM_002225.5(IVD):c.204C>A (p.Ile68=)
|
|
|
|
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
|
|
|
|
NM_002225.5(IVD):c.225G>A (p.Lys75=)
|
rs1018215813
|
|
|
NM_002225.5(IVD):c.225del (p.Asn76fs)
|
rs2141302044
|
|
|
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
|
|
|
|
NM_002225.5(IVD):c.232C>A (p.Arg78=)
|
|
|
|
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
|
rs771929559
|
|
|
NM_002225.5(IVD):c.234+10G>A
|
|
|
|
NM_002225.5(IVD):c.234+10del
|
rs745874056
|
|
|
NM_002225.5(IVD):c.234+16C>G
|
|
|
|
NM_002225.5(IVD):c.234+17G>A
|
rs568900608
|
|
|
NM_002225.5(IVD):c.234+17G>C
|
|
|
|
NM_002225.5(IVD):c.234+25_234+34dup
|
|
|
|
NM_002225.5(IVD):c.235-13A>G
|
|
|
|
NM_002225.5(IVD):c.235-15C>T
|
|
|
|
NM_002225.5(IVD):c.235-16T>C
|
|
|
|
NM_002225.5(IVD):c.235-1G>A
|
|
|
|
NM_002225.5(IVD):c.235-20C>T
|
|
|
|
NM_002225.5(IVD):c.235-5G>C
|
|
|
|
NM_002225.5(IVD):c.242G>A (p.Trp81Ter)
|
rs767782379
|
|
|
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
|
rs540375168
|
|
|
NM_002225.5(IVD):c.255G>A (p.Gly85=)
|
rs778593528
|
|
|
NM_002225.5(IVD):c.259del (p.Leu87fs)
|
|
|
|
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
|
|
|
|
NM_002225.5(IVD):c.264C>A (p.Gly88=)
|
rs377199313
|
|
|
NM_002225.5(IVD):c.264C>G (p.Gly88=)
|
|
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
|
|
|
NM_002225.5(IVD):c.267A>G (p.Val89=)
|
|
|
|
NM_002225.5(IVD):c.268T>C (p.Leu90=)
|
|
|
|
NM_002225.5(IVD):c.270G>A (p.Leu90=)
|
|
|
|
NM_002225.5(IVD):c.275_285del (p.Ile92fs)
|
|
|
|
NM_002225.5(IVD):c.285del (p.Val96fs)
|
|
|
|
NM_002225.5(IVD):c.286+14C>G
|
|
|
|
NM_002225.5(IVD):c.286+15T>C
|
|
|
|
NM_002225.5(IVD):c.286+16_286+17del
|
rs775497134
|
|
|
NM_002225.5(IVD):c.286+18C>G
|
|
|
|
NM_002225.5(IVD):c.286+18C>T
|
|
|
|
NM_002225.5(IVD):c.286+3_286+6dup
|
|
|
|
NM_002225.5(IVD):c.287-10C>T
|
|
|
|
NM_002225.5(IVD):c.287-11A>G
|
|
|
|
NM_002225.5(IVD):c.287-12C>T
|
|
|
|
NM_002225.5(IVD):c.287-14C>G
|
|
|
|
NM_002225.5(IVD):c.287-18G>T
|
|
|
|
NM_002225.5(IVD):c.287-19T>G
|
|
|
|
NM_002225.5(IVD):c.287-2A>C
|
rs781340220
|
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
|
NM_002225.5(IVD):c.294T>C (p.Tyr98=)
|
rs2141322944
|
|
|
NM_002225.5(IVD):c.297C>A (p.Gly99=)
|
rs377129112
|
|
|
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
|
|
|
|
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
|
|
|
|
NM_002225.5(IVD):c.300C>A (p.Gly100=)
|
|
|
|
NM_002225.5(IVD):c.300C>T (p.Gly100=)
|
|
|
|
NM_002225.5(IVD):c.306C>A (p.Gly102=)
|
rs1890967563
|
|
|
NM_002225.5(IVD):c.307C>T (p.Leu103=)
|
|
|
|
NM_002225.5(IVD):c.315C>T (p.Tyr105=)
|
|
|
|
NM_002225.5(IVD):c.320A>G (p.Glu107Gly)
|
rs2141323321
|
|
|
NM_002225.5(IVD):c.321G>A (p.Glu107=)
|
rs1448958748
|
|
|
NM_002225.5(IVD):c.324T>C (p.His108=)
|
|
|
|
NM_002225.5(IVD):c.327G>A (p.Val109=)
|
|
|
|
NM_002225.5(IVD):c.339G>A (p.Glu113=)
|
|
|
|
NM_002225.5(IVD):c.33T>C (p.Arg11=)
|
rs2141289261
|
|
|
NM_002225.5(IVD):c.34G>A (p.Val12Met)
|
|
|
|
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
|
|
|
|
NM_002225.5(IVD):c.360A>G (p.Gly120=)
|
rs2141323670
|
|
|
NM_002225.5(IVD):c.363A>T (p.Ala121=)
|
|
|
|
NM_002225.5(IVD):c.369G>T (p.Gly123=)
|
|
|
|
NM_002225.5(IVD):c.36G>A (p.Val12=)
|
rs2141289293
|
|
|
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
|
|
|
|
NM_002225.5(IVD):c.378C>T (p.Tyr126=)
|
rs1360239245
|
|
|
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
|
|
|
|
NM_002225.5(IVD):c.381T>C (p.Gly127=)
|
rs2141323846
|
|
|
NM_002225.5(IVD):c.384C>A (p.Ala128=)
|
rs2141323906
|
|
|
NM_002225.5(IVD):c.387C>T (p.His129=)
|
|
|
|
NM_002225.5(IVD):c.402C>T (p.Ile134=)
|
|
|
|
NM_002225.5(IVD):c.415C>T (p.Arg139Cys)
|
rs376324882
|
|
|
NM_002225.5(IVD):c.417C>T (p.Arg139=)
|
|
|
|
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
|
|
|
|
NM_002225.5(IVD):c.420T>C (p.Asn140=)
|
rs1890984701
|
|
|
NM_002225.5(IVD):c.426T>C (p.Asn142=)
|
rs1025400393
|
|
|
NM_002225.5(IVD):c.432C>G (p.Ala144=)
|
rs1213604093
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
|
NM_002225.5(IVD):c.444G>A (p.Lys148=)
|
rs768172531
|
|
|
NM_002225.5(IVD):c.447T>C (p.Tyr149=)
|
|
|
|
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
|
|
|
|
NM_002225.5(IVD):c.456+11G>A
|
|
|
|
NM_002225.5(IVD):c.456+11G>C
|
|
|
|
NM_002225.5(IVD):c.456+12G>A
|
|
|
|
NM_002225.5(IVD):c.456+12G>T
|
|
|
|
NM_002225.5(IVD):c.456+15A>G
|
|
|
|
NM_002225.5(IVD):c.456+1G>A
|
|
|
|
NM_002225.5(IVD):c.456+22_510delinsGTTG
|
rs1555403942
|
|
|
NM_002225.5(IVD):c.457-12T>C
|
|
|
|
NM_002225.5(IVD):c.457-16G>A
|
|
|
|
NM_002225.5(IVD):c.457-19T>C
|
|
|
|
NM_002225.5(IVD):c.457-1G>A
|
|
|
|
NM_002225.5(IVD):c.457-20G>A
|
|
|
|
NM_002225.5(IVD):c.457-20G>T
|
|
|
|
NM_002225.5(IVD):c.457-2A>T
|
rs771914739
|
|
|
NM_002225.5(IVD):c.457-3C>T
|
|
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
|
NM_002225.5(IVD):c.457-4G>A
|
rs2141328194
|
|
|
NM_002225.5(IVD):c.457-7C>T
|
rs2141328172
|
|
|
NM_002225.5(IVD):c.457C>G (p.Leu153Val)
|
rs763665120
|
|
|
NM_002225.5(IVD):c.459G>C (p.Leu153=)
|
rs372974651
|
|
|
NM_002225.5(IVD):c.462C>A (p.Ile154=)
|
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
|
NM_002225.5(IVD):c.468T>A (p.Gly156=)
|
|
|
|
NM_002225.5(IVD):c.489C>T (p.Ala163=)
|
|
|
|
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
|
|
|
|
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
|
|
|
|
NM_002225.5(IVD):c.495T>C (p.Ser165=)
|
|
|
|
NM_002225.5(IVD):c.498G>A (p.Glu166=)
|
rs1891054324
|
|
|
NM_002225.5(IVD):c.49C>T (p.Leu17=)
|
|
|
|
NM_002225.5(IVD):c.504T>C (p.Asn168=)
|
rs1472673106
|
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
|
NM_002225.5(IVD):c.507A>G (p.Ala169=)
|
|
|
|
NM_002225.5(IVD):c.507A>T (p.Ala169=)
|
|
|
|
NM_002225.5(IVD):c.513T>C (p.Ser171=)
|
rs2141328958
|
|
|
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
rs1891058364
|
|
|
NM_002225.5(IVD):c.522C>G (p.Val174=)
|
|
|
|
NM_002225.5(IVD):c.525T>C (p.Ser175=)
|
|
|
|
NM_002225.5(IVD):c.531G>A (p.Lys177=)
|
rs1891059665
|
|
|
NM_002225.5(IVD):c.541G>T (p.Glu181Ter)
|
rs2141329244
|
|
|
NM_002225.5(IVD):c.550+10C>G
|
rs762786940
|
|
|
NM_002225.5(IVD):c.550+10C>T
|
rs762786940
|
|
|
NM_002225.5(IVD):c.550+17C>T
|
|
|
|
NM_002225.5(IVD):c.550+18T>A
|
|
|
|
NM_002225.5(IVD):c.550+18T>G
|
|
|
|
NM_002225.5(IVD):c.550+19T>G
|
|
|
|
NM_002225.5(IVD):c.550+6G>A
|
rs1891063818
|
|
|
NM_002225.5(IVD):c.551-17C>T
|
|
|
|
NM_002225.5(IVD):c.551-5C>T
|
rs762840448
|
|
|
NM_002225.5(IVD):c.561C>T (p.Tyr187=)
|
|
|
|
NM_002225.5(IVD):c.564C>T (p.Ile188=)
|
rs1171530725
|
|
|
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)
|
|
|
|
NM_002225.5(IVD):c.588C>T (p.Ile196=)
|
rs2141331170
|
|
|
NM_002225.5(IVD):c.591T>C (p.Thr197=)
|
|
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
|
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
|
|
|
|
NM_002225.5(IVD):c.612C>T (p.Val204=)
|
|
|
|
NM_002225.5(IVD):c.613C>T (p.Leu205=)
|
rs1891095620
|
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
|
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
|
rs1890343709
|
|
|
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
|
|
|
|
NM_002225.5(IVD):c.624T>C (p.Tyr208=)
|
rs1267359192
|
|
|
NM_002225.5(IVD):c.630G>A (p.Lys210=)
|
rs1337743160
|
|
|
NM_002225.5(IVD):c.633A>C (p.Thr211=)
|
|
|
|
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
|
|
|
|
NM_002225.5(IVD):c.634G>C (p.Asp212His)
|
|
|
|
NM_002225.5(IVD):c.639G>C (p.Leu213=)
|
rs2141331622
|
|
|
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
|
|
|
|
NM_002225.5(IVD):c.642T>G (p.Ala214=)
|
rs2141331657
|
|
|
NM_002225.5(IVD):c.646G>A (p.Val216Met)
|
|
|
|
NM_002225.5(IVD):c.648G>C (p.Val216=)
|
|
|
|
NM_002225.5(IVD):c.650del (p.Pro217fs)
|
rs1364046355
|
|
|
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
|
|
|
|
NM_002225.5(IVD):c.667dup (p.Thr223fs)
|
|
|
|
NM_002225.5(IVD):c.669dup (p.Ala224fs)
|
|
|
|
NM_002225.5(IVD):c.66C>G (p.Ala22=)
|
rs2141289538
|
|
|
NM_002225.5(IVD):c.66C>T (p.Ala22=)
|
|
|
|
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
|
|
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
rs1891104586
|
|
|
NM_002225.5(IVD):c.681G>A (p.Val227=)
|
|
|
|
NM_002225.5(IVD):c.685_687+15del
|
rs2141332016
|
|
|
NM_002225.5(IVD):c.687+15G>A
|
|
|
|
NM_002225.5(IVD):c.687+1G>C
|
rs2141332035
|
|
|
NM_002225.5(IVD):c.687+2T>C
|
rs2141332040
|
|
|
NM_002225.5(IVD):c.687+7_687+16del
|
rs975307399
|
|
|
NM_002225.5(IVD):c.687+8T>C
|
rs1426896228
|
|
|
NM_002225.5(IVD):c.687+8T>G
|
rs1426896228
|
|
|
NM_002225.5(IVD):c.688-13G>A
|
rs2141339742
|
|
|
NM_002225.5(IVD):c.688-14del
|
rs561133272
|
|
|
NM_002225.5(IVD):c.688-19C>T
|
|
|
|
NM_002225.5(IVD):c.688-6G>A
|
rs770402490
|
|
|
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
|
|
|
|
NM_002225.5(IVD):c.69C>T (p.Gly23=)
|
|
|
|
NM_002225.5(IVD):c.6G>T (p.Ala2=)
|
|
|
|
NM_002225.5(IVD):c.708C>G (p.Thr236=)
|
|
|
|
NM_002225.5(IVD):c.717G>A (p.Lys239=)
|
|
|
|
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
|
|
|
|
NM_002225.5(IVD):c.720G>A (p.Leu240=)
|
rs2141340085
|
|
|
NM_002225.5(IVD):c.721G>A (p.Asp241Asn)
|
rs2141340100
|
|
|
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)
|
|
|
|
NM_002225.5(IVD):c.727C>T (p.Leu243=)
|
|
|
|
NM_002225.5(IVD):c.72C>T (p.Phe24=)
|
rs1403443551
|
|
|
NM_002225.5(IVD):c.732G>A (p.Gly244=)
|
|
|
|
NM_002225.5(IVD):c.738G>A (p.Arg246=)
|
|
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
|
NM_002225.5(IVD):c.750C>T (p.Thr250=)
|
rs2141340373
|
|
|
NM_002225.5(IVD):c.762C>A (p.Ile254=)
|
|
|
|
NM_002225.5(IVD):c.772T>G (p.Cys258Gly)
|
rs2141340538
|
|
|
NM_002225.5(IVD):c.774C>T (p.Cys258=)
|
|
|
|
NM_002225.5(IVD):c.784+11C>T
|
|
|
|
NM_002225.5(IVD):c.784+15G>C
|
|
|
|
NM_002225.5(IVD):c.784+18del
|
|
|
|
NM_002225.5(IVD):c.784+19C>T
|
|
|
|
NM_002225.5(IVD):c.784+7A>T
|
|
|
|
NM_002225.5(IVD):c.785-19C>T
|
|
|
|
NM_002225.5(IVD):c.785-2A>T
|
|
|
|
NM_002225.5(IVD):c.785-7C>T
|
rs2141351235
|
|
|
NM_002225.5(IVD):c.789C>T (p.Ala263=)
|
|
|
|
NM_002225.5(IVD):c.78C>G (p.Ser26=)
|
|
|
|
NM_002225.5(IVD):c.792C>T (p.Asn264=)
|
|
|
|
NM_002225.5(IVD):c.795C>T (p.Ile265=)
|
|
|
|
NM_002225.5(IVD):c.798G>A (p.Leu266=)
|
|
|
|
NM_002225.5(IVD):c.804T>C (p.His268=)
|
|
|
|
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
|
|
|
|
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
|
|
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
|
NM_002225.5(IVD):c.835G>A (p.Gly279Arg)
|
|
|
|
NM_002225.5(IVD):c.837G>A (p.Gly279=)
|
rs754853734
|
|
|
NM_002225.5(IVD):c.838_841del (p.Leu280fs)
|
rs2141351682
|
|
|
NM_002225.5(IVD):c.840G>A (p.Leu280=)
|
rs2141351717
|
|
|
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
|
|
|
|
NM_002225.5(IVD):c.844C>T (p.Leu282=)
|
|
|
|
NM_002225.5(IVD):c.846G>A (p.Leu282=)
|
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
|
NM_002225.5(IVD):c.84G>C (p.Arg28=)
|
|
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
|
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
|
|
|
|
NM_002225.5(IVD):c.864C>G (p.Ala288=)
|
|
|
|
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
|
rs568885234
|
|
|
NM_002225.5(IVD):c.870G>A (p.Gly290=)
|
rs1285915480
|
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
|
NM_002225.5(IVD):c.870del (p.Pro291fs)
|
rs759159766
|
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
|
NM_002225.5(IVD):c.871C>G (p.Pro291Ala)
|
|
|
|
NM_002225.5(IVD):c.878+15C>G
|
|
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
|
NM_002225.5(IVD):c.878+7G>A
|
|
|
|
NM_002225.5(IVD):c.879-12C>T
|
|
|
|
NM_002225.5(IVD):c.879-19C>T
|
|
|
|
NM_002225.5(IVD):c.879-5G>C
|
rs750569823
|
|
|
NM_002225.5(IVD):c.879-7C>T
|
rs2141355100
|
|
|
NM_002225.5(IVD):c.87C>A (p.Ala29=)
|
|
|
|
NM_002225.5(IVD):c.87C>G (p.Ala29=)
|
rs751297903
|
|
|
NM_002225.5(IVD):c.87C>T (p.Ala29=)
|
rs751297903
|
|
|
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
|
|
|
|
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933
|
|
|
NM_002225.5(IVD):c.882C>G (p.Leu294=)
|
|
|
|
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862
|
|
|
NM_002225.5(IVD):c.888A>G (p.Gln296=)
|
|
|
|
NM_002225.5(IVD):c.891G>T (p.Ala297=)
|
rs138427412
|
|
|
NM_002225.5(IVD):c.894C>T (p.Val298=)
|
rs1566940284
|
|
|
NM_002225.5(IVD):c.906C>A (p.Thr302=)
|
rs1891560320
|
|
|
NM_002225.5(IVD):c.912C>T (p.Pro304=)
|
rs1324916195
|
|
|
NM_002225.5(IVD):c.919C>T (p.His307Tyr)
|
rs2141355545
|
|
|
NM_002225.5(IVD):c.921C>T (p.His307=)
|
rs1304408183
|
|
|
NM_002225.5(IVD):c.930A>G (p.Glu310=)
|
rs1209121749
|
|
|
NM_002225.5(IVD):c.954C>T (p.His318=)
|
rs1595787254
|
|
|
NM_002225.5(IVD):c.957C>T (p.Phe319=)
|
rs1197885966
|
|
|
NM_002225.5(IVD):c.960+7C>A
|
|
|
|
NM_002225.5(IVD):c.961-13C>A
|
|
|
|
NM_002225.5(IVD):c.961-16A>G
|
|
|
|
NM_002225.5(IVD):c.961-1G>A
|
|
|
|
NM_002225.5(IVD):c.961-20T>C
|
|
|
|
NM_002225.5(IVD):c.961-20T>G
|
|
|
|
NM_002225.5(IVD):c.961-2A>T
|
rs1057517056
|
|
|
NM_002225.5(IVD):c.961-5C>T
|
|
|
|
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
|
rs1891639284
|
|
|
NM_002225.5(IVD):c.977T>C (p.Met326Thr)
|
rs1891640609
|
|
|
NM_002225.5(IVD):c.985_986del (p.Met329fs)
|
|
|
|
NM_002225.5(IVD):c.990C>T (p.Tyr330=)
|
|
|
|
NM_002225.5(IVD):c.995G>A (p.Arg332His)
|
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|
|
NM_002225.5(IVD):c.99G>A (p.Leu33=)
|
|
|
|
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
|
|
|
|
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
|
|
|
|
NM_005050.4(ABCD4):c.1028+16A>C
|
|
|
|
NM_005050.4(ABCD4):c.1028+19C>G
|
|
|
|
NM_005050.4(ABCD4):c.1028+20C>A
|
rs2139899171
|
|
|
NM_005050.4(ABCD4):c.1028+8C>T
|
|
|
|
NM_005050.4(ABCD4):c.1028+9G>T
|
|
|
|
NM_005050.4(ABCD4):c.1029-14C>G
|
|
|
|
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
|
|
|
|
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
|
|
|
|
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln)
|
rs147100216
|
|
|
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu)
|
rs147100216
|
|
|
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg)
|
rs35073715
|
|
|
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
|
rs35073715
|
|
|
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
|
|
|
|
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
|
|
|
|
NM_005050.4(ABCD4):c.1118+11G>C
|
|
|
|
NM_005050.4(ABCD4):c.1118+2T>A
|
|
|
|
NM_005050.4(ABCD4):c.1119-20C>T
|
|
|
|
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
|
|
|
|
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)
|
rs1440898011
|
|
|
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
|
|
|
|
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
|
|
|
|
NM_005050.4(ABCD4):c.1188C>T (p.Ala396=)
|
|
|
|
NM_005050.4(ABCD4):c.1190C>A (p.Pro397His)
|
|
|
|
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
|
|
|
|
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
|
|
|
|
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
|
|
|
|
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
|
rs2081160348
|
|
|
NM_005050.4(ABCD4):c.1257C>T (p.Ile419=)
|
|
|
|
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
|
|
|
|
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)
|
rs945270666
|
|
|
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
|
rs1435760575
|
|
|
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
|
rs2081143591
|
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
|
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
|
|
|
|
NM_005050.4(ABCD4):c.1326G>A (p.Arg442=)
|
|
|
|
NM_005050.4(ABCD4):c.1327+9C>A
|
|
|
|
NM_005050.4(ABCD4):c.1328-10G>A
|
|
|
|
NM_005050.4(ABCD4):c.1328-18T>C
|
|
|
|
NM_005050.4(ABCD4):c.1328-19G>A
|
rs376137295
|
|
|
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
|
|
|
|
NM_005050.4(ABCD4):c.1338G>A (p.Gln446=)
|
|
|
|
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
|
|
|
|
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
|
rs1594861158
|
|
|
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
|
|
|
|
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
|
|
|
|
NM_005050.4(ABCD4):c.1419+15G>A
|
|
|
|
NM_005050.4(ABCD4):c.1420-11dup
|
|
|
|
NM_005050.4(ABCD4):c.1420-3del
|
|
|
|
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
|
rs1045211254
|
|
|
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
|
|
|
|
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
|
|
|
|
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
|
|
|
|
NM_005050.4(ABCD4):c.1456+13T>C
|
|
|
|
NM_005050.4(ABCD4):c.1456+14C>T
|
|
|
|
NM_005050.4(ABCD4):c.1456+9G>T
|
|
|
|
NM_005050.4(ABCD4):c.1457-18G>A
|
|
|
|
NM_005050.4(ABCD4):c.1457-1G>C
|
|
|
|
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
|
|
|
|
NM_005050.4(ABCD4):c.1507-11G>C
|
rs375805220
|
|
|
NM_005050.4(ABCD4):c.1507-3_1507-2dup
|
rs746298456
|
|
|
NM_005050.4(ABCD4):c.1507-4A>G
|
|
|
|
NM_005050.4(ABCD4):c.1519G>A (p.Ala507Thr)
|
|
|
|
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
|
|
|
|
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
|
|
|
|
NM_005050.4(ABCD4):c.1559+13C>T
|
|
|
|
NM_005050.4(ABCD4):c.1559+16G>A
|
|
|
|
NM_005050.4(ABCD4):c.1559+7_1559+11del
|
rs1381694360
|
|
|
NM_005050.4(ABCD4):c.157+15C>T
|
|
|
|
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)
|
rs2140107509
|
|
|
NM_005050.4(ABCD4):c.158-14C>T
|
|
|
|
NM_005050.4(ABCD4):c.158-7C>T
|
|
|
|
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
|
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
|
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
|
|
|
|
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
|
|
|
|
NM_005050.4(ABCD4):c.1626G>A (p.Pro542=)
|
|
|
|
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
|
|
|
|
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
|
rs754370477
|
|
|
NM_005050.4(ABCD4):c.1637-15G>T
|
rs2079892790
|
|
|
NM_005050.4(ABCD4):c.1637-6C>G
|
|
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
|
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)
|
rs2139698542
|
|
|
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
|
rs138753274
|
|
|
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
|
rs1204078851
|
|
|
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
|
|
|
|
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
|
|
|
|
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
|
|
|
|
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
|
|
|
|
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)
|
rs2139689489
|
|
|
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
|
|
|
|
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)
|
rs2140174798
|
|
|
NM_005050.4(ABCD4):c.219C>T (p.Asn73=)
|
|
|
|
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)
|
rs2140093719
|
|
|
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
|
|
|
|
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
|
|
|
|
NM_005050.4(ABCD4):c.285+18C>G
|
|
|
|
NM_005050.4(ABCD4):c.286-10C>G
|
|
|
|
NM_005050.4(ABCD4):c.286-3C>T
|
|
|
|
NM_005050.4(ABCD4):c.286-7T>A
|
|
|
|
NM_005050.4(ABCD4):c.321G>A (p.Leu107=)
|
|
|
|
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
|
|
|
|
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
|
|
|
|
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
|
|
|
|
NM_005050.4(ABCD4):c.38+16G>A
|
|
|
|
NM_005050.4(ABCD4):c.38+18G>A
|
|
|
|
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
|
|
|
|
NM_005050.4(ABCD4):c.39-19C>T
|
|
|
|
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
|
|
|
|
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
|
|
|
|
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
|
|
|
|
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
|
rs972140495
|
|
|
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
|
|
|
|
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
|
|
|
|
NM_005050.4(ABCD4):c.426-11A>G
|
rs2140018313
|
|
|
NM_005050.4(ABCD4):c.426-4C>G
|
rs765378243
|
|
|
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
|
|
|
|
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)
|
rs150967109
|
|
|
NM_005050.4(ABCD4):c.442C>T (p.Gln148Ter)
|
|
|
|
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)
|
rs574925291
|
|
|
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
|
|
|
|
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
|
|
|
|
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
|
|
|
|
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
|
|
|
|
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)
|
rs778245157
|
|
|
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
|
|
|
|
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
|
|
|
|
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
|
|
|
|
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
|
|
|
|
NM_005050.4(ABCD4):c.542+20C>G
|
rs2140013486
|
|
|
NM_005050.4(ABCD4):c.543-11C>G
|
|
|
|
NM_005050.4(ABCD4):c.543-17CT[3]
|
|
|
|
NM_005050.4(ABCD4):c.543-17CT[4]
|
|
|
|
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
|
|
|
|
NM_005050.4(ABCD4):c.57A>G (p.Gln19=)
|
rs574817590
|
|
|
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
|
|
|
|
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
|
|
|
|
NM_005050.4(ABCD4):c.657G>A (p.Glu219=)
|
|
|
|
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
|
|
|
|
NM_005050.4(ABCD4):c.669-6G>A
|
|
|
|
NM_005050.4(ABCD4):c.669-6G>T
|
rs115029507
|
|
|
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
|
|
|
|
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
|
|
|
|
NM_005050.4(ABCD4):c.689G>A (p.Arg230Gln)
|
|
|
|
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
|
|
|
|
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
|
|
|
|
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
|
|
|
|
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
|
|
|
|
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
|
|
|
|
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
|
rs1566959741
|
|
|
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
|
|
|
|
NM_005050.4(ABCD4):c.814+13G>A
|
|
|
|
NM_005050.4(ABCD4):c.814+6C>T
|
rs1012967402
|
|
|
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
|
|
|
|
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
|
rs2081908223
|
|
|
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
|
|
|
|
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
|
|
|
|
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
|
rs2084043062
|
|
|
NM_005050.4(ABCD4):c.912A>C (p.Ala304=)
|
|
|
|
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
|
|
|
|
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
|
|
|
|
NM_005050.4(ABCD4):c.936+20A>C
|
|
|
|
NM_005050.4(ABCD4):c.936+20A>G
|
|
|
|
NM_005050.4(ABCD4):c.937-17C>T
|
|
|
|
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
|
|
|
|
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
|
|
|
|
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
|
|
|
|
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
|
|
|
|
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
|
|
|
|
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
|
|
|
|
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
|
|
|
|
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
|
|
|
|
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
|
rs2148589412
|
|
|
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
|
|
|
|
NM_005334.3(HCFC1):c.1059C>T (p.Cys353=)
|
|
|
|
NM_005334.3(HCFC1):c.1084+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.1084+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1084+18G>T
|
rs782811477
|
|
|
NM_005334.3(HCFC1):c.1084+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.1084+7C>A
|
|
|
|
NM_005334.3(HCFC1):c.1084+9G>A
|
rs1557116426
|
|
|
NM_005334.3(HCFC1):c.1085-12G>C
|
|
|
|
NM_005334.3(HCFC1):c.1085-12G>T
|
|
|
|
NM_005334.3(HCFC1):c.1085-13C>T
|
|
|
|
NM_005334.3(HCFC1):c.1085-17A>G
|
|
|
|
NM_005334.3(HCFC1):c.1085-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.1085-6C>T
|
|
|
|
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
|
|
|
|
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
|
|
|
|
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
|
|
|
|
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
|
|
|
|
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
|
|
|
|
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
|
|
|
|
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
|
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
|
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
|
|
|
|
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
|
|
|
|
NM_005334.3(HCFC1):c.120C>T (p.Ala40=)
|
|
|
|
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
|
|
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
|
|
|
|
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
|
|
|
|
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
|
|
|
|
NM_005334.3(HCFC1):c.1251C>T (p.Val417=)
|
rs1557116313
|
|
|
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
|
|
|
|
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
|
|
|
|
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
|
|
|
|
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
|
|
|
|
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
|
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
|
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
|
|
|
|
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
|
|
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
|
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
|
|
|
|
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
|
|
|
|
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
|
|
|
|
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
|
|
|
|
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
|
|
|
|
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
|
|
|
|
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
|
|
|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
|
NM_005334.3(HCFC1):c.1444+10G>A
|
|
|
|
NM_005334.3(HCFC1):c.1444+14C>T
|
|
|
|
NM_005334.3(HCFC1):c.1444+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1445-11T>C
|
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|
|
NM_005334.3(HCFC1):c.1445-17G>T
|
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|
|
NM_005334.3(HCFC1):c.1445-20C>G
|
|
|
|
NM_005334.3(HCFC1):c.1445-7T>C
|
|
|
|
NM_005334.3(HCFC1):c.1445-8C>G
|
|
|
|
NM_005334.3(HCFC1):c.1445-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.1447G>A (p.Val483Ile)
|
|
|
|
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
|
|
|
|
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
|
|
|
|
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
|
|
|
|
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
|
|
|
|
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
|
|
|
|
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
|
|
|
|
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
|
|
|
|
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
|
|
|
|
NM_005334.3(HCFC1):c.1548G>A (p.Val516=)
|
|
|
|
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
|
|
|
|
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
|
|
|
|
NM_005334.3(HCFC1):c.1569G>A (p.Val523=)
|
|
|
|
NM_005334.3(HCFC1):c.156C>T (p.Asn52=)
|
|
|
|
NM_005334.3(HCFC1):c.1605+11G>A
|
rs2148586621
|
|
|
NM_005334.3(HCFC1):c.1605+11G>T
|
|
|
|
NM_005334.3(HCFC1):c.1605+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1606-11G>T
|
|
|
|
NM_005334.3(HCFC1):c.1606-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.1606-15C>T
|
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|
|
NM_005334.3(HCFC1):c.1606-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.1606-17G>A
|
|
|
|
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
|
|
|
|
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
|
|
|
|
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
|
|
|
|
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
|
|
|
|
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
|
|
|
|
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
|
|
|
|
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
|
|
|
|
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
|
|
|
|
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
|
|
|
|
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=)
|
rs2148584844
|
|
|
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
|
|
|
|
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
|
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
|
|
|
|
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
|
|
|
|
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
|
|
|
|
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
|
|
|
|
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=)
|
rs2148584612
|
|
|
NM_005334.3(HCFC1):c.1803+13del
|
|
|
|
NM_005334.3(HCFC1):c.1803+15G>A
|
|
|
|
NM_005334.3(HCFC1):c.1804-14T>C
|
|
|
|
NM_005334.3(HCFC1):c.1804-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.1804-9C>G
|
|
|
|
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
|
|
|
|
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
|
|
|
|
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
|
|
|
|
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
|
|
|
|
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
|
|
|
|
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
|
|
|
|
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
|
|
|
|
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
|
|
|
|
NM_005334.3(HCFC1):c.193+12G>A
|
|
|
|
NM_005334.3(HCFC1):c.193+15C>T
|
|
|
|
NM_005334.3(HCFC1):c.193+15dup
|
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
|
NM_005334.3(HCFC1):c.193+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
|
|
|
|
NM_005334.3(HCFC1):c.194-19G>C
|
|
|
|
NM_005334.3(HCFC1):c.194-19G>T
|
|
|
|
NM_005334.3(HCFC1):c.194-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
|
|
|
|
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
|
|
|
|
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
|
|
|
|
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
|
|
|
|
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
|
|
|
|
NM_005334.3(HCFC1):c.2028+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.2028+18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
|
NM_005334.3(HCFC1):c.2029-12C>T
|
|
|
|
NM_005334.3(HCFC1):c.2029-12del
|
|
|
|
NM_005334.3(HCFC1):c.2029-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2029-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
|
|
|
|
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
|
|
|
|
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
|
|
|
|
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
|
|
|
|
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
|
|
|
|
NM_005334.3(HCFC1):c.2133+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.2133+11dup
|
|
|
|
NM_005334.3(HCFC1):c.2133+20A>C
|
|
|
|
NM_005334.3(HCFC1):c.2133+7T>C
|
|
|
|
NM_005334.3(HCFC1):c.2134-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.2145C>T (p.Pro715=)
|
|
|
|
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
|
|
|
|
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
|
|
|
|
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
|
|
|
|
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
|
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
|
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
|
|
|
|
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
|
|
|
|
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
|
|
|
|
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
|
|
|
|
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
|
|
|
|
NM_005334.3(HCFC1):c.225G>A (p.Arg75=)
|
|
|
|
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
|
|
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
|
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
|
|
|
|
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
|
|
|
|
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
|
|
|
|
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
|
|
|
|
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
|
|
|
|
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
|
|
|
|
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
|
|
|
|
NM_005334.3(HCFC1):c.2353+15C>T
|
|
|
|
NM_005334.3(HCFC1):c.2353+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.2353+19A>G
|
|
|
|
NM_005334.3(HCFC1):c.2353+20T>C
|
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
|
NM_005334.3(HCFC1):c.2354-10_2354-9del
|
|
|
|
NM_005334.3(HCFC1):c.2354-14A>G
|
|
|
|
NM_005334.3(HCFC1):c.2354-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.2354-16C>G
|
|
|
|
NM_005334.3(HCFC1):c.2354-20G>A
|
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
|
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
|
rs782481466
|
|
|
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
|
|
|
|
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
|
|
|
|
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
|
|
|
|
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
|
|
|
|
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
|
|
|
|
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
|
|
|
|
NM_005334.3(HCFC1):c.2496+12C>T
|
|
|
|
NM_005334.3(HCFC1):c.2496+14A>G
|
|
|
|
NM_005334.3(HCFC1):c.2496+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.2496+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.2496+20C>G
|
|
|
|
NM_005334.3(HCFC1):c.2496+7C>T
|
|
|
|
NM_005334.3(HCFC1):c.2497-16T>C
|
|
|
|
NM_005334.3(HCFC1):c.2497-17_2497-16del
|
|
|
|
NM_005334.3(HCFC1):c.2497-9G>T
|
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
|
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
|
|
|
|
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
|
|
|
|
NM_005334.3(HCFC1):c.2535C>T (p.Ile845=)
|
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
|
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
|
|
|
|
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
|
|
|
|
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
|
|
|
|
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
|
|
|
|
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
|
|
|
|
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
|
|
|
|
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
|
|
|
|
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
|
|
|
|
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
|
|
|
|
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
|
|
|
|
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=)
|
rs782757775
|
|
|
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
|
|
|
|
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
|
|
|
|
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
|
|
|
|
NM_005334.3(HCFC1):c.2635+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.2635+12T>A
|
|
|
|
NM_005334.3(HCFC1):c.2635+15G>A
|
|
|
|
NM_005334.3(HCFC1):c.2635+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.2636-10T>A
|
|
|
|
NM_005334.3(HCFC1):c.2636-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2636-15C>A
|
|
|
|
NM_005334.3(HCFC1):c.2636-16G>C
|
|
|
|
NM_005334.3(HCFC1):c.2636-18T>A
|
|
|
|
NM_005334.3(HCFC1):c.2636-6C>T
|
|
|
|
NM_005334.3(HCFC1):c.2636-7C>G
|
|
|
|
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
|
|
|
|
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
|
|
|
|
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
|
|
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
|
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
|
|
|
|
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
|
|
|
|
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
|
|
|
|
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
|
|
|
|
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
|
|
|
|
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
|
|
|
|
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
|
|
|
|
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
|
|
|
|
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
|
|
|
|
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
|
|
|
|
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
|
|
|
|
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
|
|
|
|
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
|
|
|
|
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
|
|
|
|
NM_005334.3(HCFC1):c.2766G>A (p.Gln922=)
|
|
|
|
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
|
|
|
|
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
|
|
|
|
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
|
|
|
|
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
|
|
|
|
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
|
|
|
|
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
|
|
|
|
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=)
|
rs782349400
|
|
|
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
|
|
|
|
NM_005334.3(HCFC1):c.2856+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.2856+7C>T
|
|
|
|
NM_005334.3(HCFC1):c.2856+8A>G
|
|
|
|
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
|
|
|
|
NM_005334.3(HCFC1):c.2857-14G>C
|
|
|
|
NM_005334.3(HCFC1):c.2857-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2857-20C>T
|
rs2148575650
|
|
|
NM_005334.3(HCFC1):c.2857-23CTC[2]
|
rs886044899
|
|
|
NM_005334.3(HCFC1):c.2857-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
|
|
|
|
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
|
|
|
|
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
|
|
|
|
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
|
|
|
|
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
|
|
|
|
NM_005334.3(HCFC1):c.2903G>A (p.Gly968Glu)
|
|
|
|
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
|
|
|
|
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
|
|
|
|
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
|
|
|
|
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
|
|
|
|
NM_005334.3(HCFC1):c.2962G>C (p.Glu988Gln)
|
|
|
|
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
|
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
|
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
|
|
|
|
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
|
|
|
|
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
|
|
|
|
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
|
|
|
|
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=)
|
rs782300483
|
|
|
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
|
|
|
|
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
|
|
|
|
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
|
|
|
|
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
|
|
|
|
NM_005334.3(HCFC1):c.3090C>T (p.Thr1030=)
|
|
|
|
NM_005334.3(HCFC1):c.3120C>T (p.His1040=)
|
|
|
|
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
|
|
|
|
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
|
|
|
|
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3175C>T (p.Leu1059Phe)
|
|
|
|
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)
|
rs944235194
|
|
|
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
|
|
|
|
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
|
|
|
|
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
|
|
|
|
NM_005334.3(HCFC1):c.3210C>T (p.Ser1070=)
|
|
|
|
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
|
|
|
|
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
|
|
|
|
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
|
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
|
|
|
|
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
|
|
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
|
|
|
|
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
|
|
|
|
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
|
|
|
|
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
|
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
|
|
|
|
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
|
|
|
|
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
|
|
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
|
|
|
|
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
|
|
|
|
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
|
|
|
|
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
|
|
|
|
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
|
|
|
|
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
|
|
|
|
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
|
NM_005334.3(HCFC1):c.342+11C>T
|
|
|
|
NM_005334.3(HCFC1):c.342+9G>A
|
|
|
|
NM_005334.3(HCFC1):c.343-10G>A
|
|
|
|
NM_005334.3(HCFC1):c.343-7T>G
|
|
|
|
NM_005334.3(HCFC1):c.343-8T>C
|
|
|
|
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
|
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
|
NM_005334.3(HCFC1):c.3453G>A (p.Val1151=)
|
|
|
|
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
|
|
|
|
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)
|
rs1053320929
|
|
|
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
|
|
|
|
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
|
|
|
|
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
|
|
|
|
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
|
|
|
|
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
|
|
|
|
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
|
|
|
|
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
|
|
|
|
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
|
|
|
|
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
|
|
|
|
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
|
|
|
|
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
|
|
|
|
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
|
|
|
|
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
|
|
|
|
NM_005334.3(HCFC1):c.3571C>T (p.Pro1191Ser)
|
|
|
|
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
|
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
|
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=)
|
rs782167598
|
|
|
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
|
|
|
|
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=)
|
rs1557114069
|
|
|
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
|
|
|
|
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
|
|
|
|
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
|
|
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
|
NM_005334.3(HCFC1):c.3699C>T (p.His1233=)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
|
|
|
|
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
|
|
|
|
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
|
|
|
|
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
|
|
|
|
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
|
|
|
|
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
|
|
|
|
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
|
|
|
|
NM_005334.3(HCFC1):c.3733T>C (p.Ser1245Pro)
|
|
|
|
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
|
|
|
|
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
|
|
|
|
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
|
|
|
|
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
|
|
|
|
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
|
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
|
|
|
|
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
|
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
|
|
|
|
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
|
|
|
|
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
|
|
|
|
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
|
|
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
|
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
|
|
|
|
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
|
|
|
|
NM_005334.3(HCFC1):c.3837G>A (p.Leu1279=)
|
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
|
|
|
|
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
|
|
|
|
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
|
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
|
NM_005334.3(HCFC1):c.3888C>G (p.Thr1296=)
|
|
|
|
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
|
|
|
|
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
|
|
|
|
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
|
|
|
|
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
|
|
|
|
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
|
|
|
|
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
|
|
|
|
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
|
|
|
|
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
|
|
|
|
NM_005334.3(HCFC1):c.3945G>A (p.Arg1315=)
|
|
|
|
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
|
|
|
|
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
|
|
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
|
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
|
|
|
|
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
|
|
|
|
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
|
|
|
|
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
|
|
|
|
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
|
|
|
|
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
|
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
|
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
|
|
|
|
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
|
|
|
|
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
|
|
|
|
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
|
|
|
|
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
|
|
|
|
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
|
|
|
|
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
|
|
|
|
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
|
|
|
|
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
|
|
|
|
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
|
|
|
|
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
|
|
|
|
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
|
|
|
|
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
|
|
|
|
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
|
|
|
|
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
|
|
|
|
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
|
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
|
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
|
|
|
|
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
|
|
|
|
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=)
|
rs782136932
|
|
|
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
|
|
|
|
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
|
|
|
|
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
|
|
|
|
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
|
|
|
|
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
|
|
|
|
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
|
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
|
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
|
|
|
|
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
|
|
|
|
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
|
|
|
|
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
|
|
|
|
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
|
|
|
|
NM_005334.3(HCFC1):c.4226C>G (p.Ala1409Gly)
|
|
|
|
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
|
|
|
|
NM_005334.3(HCFC1):c.4233C>T (p.Phe1411=)
|
|
|
|
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
|
|
|
|
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
|
|
|
|
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)
|
rs782771916
|
|
|
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
|
|
|
|
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
|
|
|
|
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
|
|
|
|
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
|
|
|
|
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
|
|
|
|
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
|
|
|
|
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
|
|
|
|
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
|
|
|
|
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
|
rs2148568710
|
|
|
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
|
|
|
|
NM_005334.3(HCFC1):c.4333+16C>T
|
|
|
|
NM_005334.3(HCFC1):c.4333+9A>G
|
|
|
|
NM_005334.3(HCFC1):c.4334-10G>A
|
|
|
|
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
|
|
|
|
NM_005334.3(HCFC1):c.4334-11C>G
|
|
|
|
NM_005334.3(HCFC1):c.4334-13G>A
|
|
|
|
NM_005334.3(HCFC1):c.4334-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.4334-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.4334-18_4334-8dup
|
|
|
|
NM_005334.3(HCFC1):c.4334-20C>A
|
|
|
|
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
|
|
|
|
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
|
|
|
|
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
|
|
|
|
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
|
|
|
|
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
|
|
|
|
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
|
|
|
|
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
|
|
|
|
NM_005334.3(HCFC1):c.4387A>G (p.Ser1463Gly)
|
|
|
|
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
|
|
|
|
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
|
|
|
|
NM_005334.3(HCFC1):c.4394A>G (p.Asn1465Ser)
|
|
|
|
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
|
|
|
|
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
|
|
|
|
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
|
|
|
|
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
|
|
|
|
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
|
|
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
|
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
|
|
|
|
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
|
|
|
|
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
|
|
|
|
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
|
|
|
|
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
|
|
|
|
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
|
|
|
|
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
|
|
|
|
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
|
|
|
|
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
|
|
|
|
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
|
|
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
|
|
|
|
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
|
|
|
|
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
|
|
|
|
NM_005334.3(HCFC1):c.4497+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.4497+16G>T
|
|
|
|
NM_005334.3(HCFC1):c.4497+18C>T
|
|
|
|
NM_005334.3(HCFC1):c.4497+19G>A
|
|
|
|
NM_005334.3(HCFC1):c.4497+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-12G>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-6C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
|
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
|
|
|
|
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
|
|
|
|
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
|
|
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
|
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
|
|
|
|
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
|
|
|
|
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
|
|
|
|
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
|
|
|
|
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
|
|
|
|
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
|
rs2065328379
|
|
|
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
|
|
|
|
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
|
|
|
|
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
|
|
|
|
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
|
|
|
|
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
|
|
|
|
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
|
|
|
|
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
|
|
|
|
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
|
|
|
|
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
|
|
|
|
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
|
|
|
|
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
|
|
|
|
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
|
|
|
|
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
|
|
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
|
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
|
|
|
|
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
|
|
|
|
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
|
|
|
|
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
|
|
|
|
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
|
|
|
|
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
|
|
|
|
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
|
|
|
|
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
|
|
|
|
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
|
|
|
|
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
|
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
|
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
|
|
|
|
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
|
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
|
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
|
|
|
|
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
|
|
|
|
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
|
|
|
|
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
|
|
|
|
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
|
|
|
|
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
|
|
|
|
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
|
|
|
|
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
|
|
|
|
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
|
|
|
|
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
|
|
|
|
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
|
|
|
|
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
|
|
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
|
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=)
|
rs1557112897
|
|
|
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
|
|
|
|
NM_005334.3(HCFC1):c.4942+17C>A
|
|
|
|
NM_005334.3(HCFC1):c.4942+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.4942+20T>C
|
|
|
|
NM_005334.3(HCFC1):c.4942+20T>G
|
|
|
|
NM_005334.3(HCFC1):c.4942+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-11C>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-18C>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
|
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
|
|
|
|
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
|
|
|
|
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
|
|
|
|
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
|
|
|
|
NM_005334.3(HCFC1):c.4968C>T (p.Ser1656=)
|
|
|
|
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
|
|
|
|
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
|
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
|
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
|
|
|
|
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
|
|
|
|
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
|
|
|
|
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
|
|
|
|
NM_005334.3(HCFC1):c.503+10G>A
|
|
|
|
NM_005334.3(HCFC1):c.503+18T>C
|
|
|
|
NM_005334.3(HCFC1):c.503+8T>G
|
|
|
|
NM_005334.3(HCFC1):c.5035G>T (p.Ala1679Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
|
|
|
|
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
|
|
|
|
NM_005334.3(HCFC1):c.504-13C>A
|
|
|
|
NM_005334.3(HCFC1):c.504-16G>C
|
|
|
|
NM_005334.3(HCFC1):c.504-3C>T
|
|
|
|
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
|
|
|
|
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
|
|
|
|
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
|
rs2148561246
|
|
|
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
|
|
|
|
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
|
|
|
|
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
|
|
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
|
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
|
|
|
|
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
|
|
|
|
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
|
|
|
|
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
|
|
|
|
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
|
|
|
|
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
|
|
|
|
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
|
|
|
|
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
|
|
|
|
NM_005334.3(HCFC1):c.5175C>T (p.Asp1725=)
|
|
|
|
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
|
|
|
|
NM_005334.3(HCFC1):c.5190C>T (p.Ser1730=)
|
|
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
|
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
|
|
|
|
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
|
|
|
|
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
|
|
|
|
NM_005334.3(HCFC1):c.5211C>T (p.Ala1737=)
|
|
|
|
NM_005334.3(HCFC1):c.5212G>A (p.Gly1738Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
|
|
|
|
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
|
|
|
|
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
|
|
|
|
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
|
|
|
|
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
|
|
|
|
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
|
|
|
|
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
|
|
|
|
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
|
|
|
|
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
|
|
|
|
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
|
|
|
|
NM_005334.3(HCFC1):c.5260+16C>T
|
|
|
|
NM_005334.3(HCFC1):c.5260+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.5260+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.5261-12C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-12_5261-10del
|
|
|
|
NM_005334.3(HCFC1):c.5261-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-4C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-5C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-8C>G
|
|
|
|
NM_005334.3(HCFC1):c.5261-9_5261-6del
|
|
|
|
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
|
|
|
|
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
|
|
|
|
NM_005334.3(HCFC1):c.5271A>G (p.Pro1757=)
|
|
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
|
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
|
|
|
|
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
|
|
|
|
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
|
rs2148560027
|
|
|
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
|
|
|
|
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
|
|
|
|
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
|
|
|
|
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=)
|
rs1057521778
|
|
|
NM_005334.3(HCFC1):c.5340C>T (p.Thr1780=)
|
|
|
|
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
|
|
|
|
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
|
|
|
|
NM_005334.3(HCFC1):c.5364C>T (p.Ile1788=)
|
|
|
|
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=)
|
rs1220039024
|
|
|
NM_005334.3(HCFC1):c.5379+10del
|
|
|
|
NM_005334.3(HCFC1):c.5379+15T>C
|
|
|
|
NM_005334.3(HCFC1):c.5379+7C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-13T>C
|
|
|
|
NM_005334.3(HCFC1):c.5380-15G>A
|
|
|
|
NM_005334.3(HCFC1):c.5380-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-19C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-20G>A
|
|
|
|
NM_005334.3(HCFC1):c.5380-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-8T>A
|
|
|
|
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
|
|
|
|
NM_005334.3(HCFC1):c.5389C>T (p.Leu1797=)
|
|
|
|
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del)
|
rs782769309
|
|
|
NM_005334.3(HCFC1):c.5394G>A (p.Pro1798=)
|
|
|
|
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
|
|
|
|
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
|
|
|
|
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
|
|
|
|
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
|
|
|
|
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
|
|
|
|
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
|
|
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
|
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
|
|
|
|
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
|
|
|
|
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
|
|
|
|
NM_005334.3(HCFC1):c.5517+10C>G
|
|
|
|
NM_005334.3(HCFC1):c.5517+20G>C
|
|
|
|
NM_005334.3(HCFC1):c.5518-10C>T
|
|
|
|
NM_005334.3(HCFC1):c.5518-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
|
|
|
|
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
|
|
|
|
NM_005334.3(HCFC1):c.5533G>A (p.Val1845Ile)
|
|
|
|
NM_005334.3(HCFC1):c.5535C>A (p.Val1845=)
|
|
|
|
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
|
|
|
|
NM_005334.3(HCFC1):c.5542T>C (p.Tyr1848His)
|
|
|
|
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
|
|
|
|
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
|
|
|
|
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
|
|
|
|
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
|
|
|
|
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
|
|
|
|
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
|
|
|
|
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
|
|
|
|
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
|
|
|
|
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
|
|
|
|
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
|
|
|
|
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
|
|
|
|
NM_005334.3(HCFC1):c.5685T>C (p.Cys1895=)
|
|
|
|
NM_005334.3(HCFC1):c.5703+11C>T
|
|
|
|
NM_005334.3(HCFC1):c.5703+14T>G
|
|
|
|
NM_005334.3(HCFC1):c.5703+18del
|
|
|
|
NM_005334.3(HCFC1):c.5703+19T>C
|
|
|
|
NM_005334.3(HCFC1):c.5704-10T>C
|
|
|
|
NM_005334.3(HCFC1):c.5704-11C>G
|
|
|
|
NM_005334.3(HCFC1):c.5704-11C>T
|
|
|
|
NM_005334.3(HCFC1):c.5704-13C>T
|
|
|
|
NM_005334.3(HCFC1):c.5704-14C>A
|
|
|
|
NM_005334.3(HCFC1):c.5704-15C>A
|
|
|
|
NM_005334.3(HCFC1):c.5704-20_5704-18del
|
|
|
|
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
|
|
|
|
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
|
|
|
|
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
|
|
|
|
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
|
|
|
|
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
|
|
|
|
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
|
|
|
|
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=)
|
rs782090098
|
|
|
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
|
|
|
|
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
|
|
|
|
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
|
|
|
|
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
|
|
|
|
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
|
rs1000069168
|
|
|
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
|
|
|
|
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
|
|
|
|
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
|
|
|
|
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
|
|
|
|
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
|
|
|
|
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
|
|
|
|
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
|
|
|
|
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
|
|
|
|
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
|
|
|
|
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
|
|
|
|
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
|
|
|
|
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
|
|
|
|
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
|
|
|
|
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
|
|
|
|
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
|
|
|
|
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
|
|
|
|
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
|
|
|
|
NM_005334.3(HCFC1):c.6004+10C>G
|
|
|
|
NM_005334.3(HCFC1):c.6004+13C>T
|
|
|
|
NM_005334.3(HCFC1):c.6004+14G>T
|
|
|
|
NM_005334.3(HCFC1):c.6004+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-11G>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-12C>G
|
rs181583112
|
|
|
NM_005334.3(HCFC1):c.6005-12C>T
|
rs181583112
|
|
|
NM_005334.3(HCFC1):c.6005-13C>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-13C>T
|
|
|
|
NM_005334.3(HCFC1):c.6005-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.6005-5T>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-6T>C
|
|
|
|
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
|
rs1715955651
|
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
|
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
|
|
|
|
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
|
|
|
|
NM_005334.3(HCFC1):c.6068+11A>G
|
|
|
|
NM_005334.3(HCFC1):c.6068+13C>G
|
rs2148553916
|
|
|
NM_005334.3(HCFC1):c.6068+14C>T
|
|
|
|
NM_005334.3(HCFC1):c.6068+15C>G
|
|
|
|
NM_005334.3(HCFC1):c.6068+19T>C
|
|
|
|
NM_005334.3(HCFC1):c.6068+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.6069-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.6069-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
|
|
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
|
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
|
|
|
|
NM_005334.3(HCFC1):c.609T>C (p.His203=)
|
|
|
|
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
|
|
|
|
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
|
|
|
|
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
|
|
|
|
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
|
|
|
|
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
|
|
|
|
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
|
|
|
|
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
|
|
|
|
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
|
|
|
|
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
|
|
|
|
NM_005334.3(HCFC1):c.712+11T>A
|
|
|
|
NM_005334.3(HCFC1):c.712+13G>T
|
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
|
NM_005334.3(HCFC1):c.712+9GGT[3]
|
|
|
|
NM_005334.3(HCFC1):c.713-10C>G
|
|
|
|
NM_005334.3(HCFC1):c.713-10CT[2]
|
|
|
|
NM_005334.3(HCFC1):c.713-12G>A
|
|
|
|
NM_005334.3(HCFC1):c.713-17C>T
|
|
|
|
NM_005334.3(HCFC1):c.713-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
|
|
|
|
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
|
|
|
|
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
|
|
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
|
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
|
|
|
|
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
|
|
|
|
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
|
|
|
|
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
|
|
|
|
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
|
|
|
|
NM_005334.3(HCFC1):c.797+13T>A
|
|
|
|
NM_005334.3(HCFC1):c.797+15A>C
|
|
|
|
NM_005334.3(HCFC1):c.797+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.797+9C>G
|
|
|
|
NM_005334.3(HCFC1):c.797+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-11C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-11_798-9del
|
|
|
|
NM_005334.3(HCFC1):c.798-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-5C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.805G>A (p.Val269Met)
|
|
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
|
NM_005334.3(HCFC1):c.840C>T (p.Asp280=)
|
|
|
|
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
|
|
|
|
NM_005334.3(HCFC1):c.858C>T (p.His286=)
|
|
|
|
NM_005334.3(HCFC1):c.867G>A (p.Glu289=)
|
|
|
|
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
|
|
|
|
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
|
|
|
|
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
|
|
|
|
NM_005334.3(HCFC1):c.904+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.904+13C>T
|
|
|
|
NM_005334.3(HCFC1):c.904+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.904+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.905-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
|
|
|
|
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
|
|
|
|
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
|
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
|
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
|
|
|
|
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
|
|
|
|
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
|
|
|
|
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
|
|
|
|
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
|
|
|
|
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
|
|
|
|
NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)
|
|
|
|
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
|
|
|
|
NM_014362.4(HIBCH):c.1010_1011+3del
|
|
|
|
NM_014362.4(HIBCH):c.1011+10dup
|
|
|
|
NM_014362.4(HIBCH):c.1011+20del
|
rs144660628
|
|
|
NM_014362.4(HIBCH):c.1012-10T>G
|
rs1246020574
|
|
|
NM_014362.4(HIBCH):c.1012-16C>G
|
|
|
|
NM_014362.4(HIBCH):c.1012-19A>T
|
|
|
|
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)
|
rs1364971527
|
|
|
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
|
|
|
|
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
|
|
|
|
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)
|
rs1260531370
|
|
|
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
|
|
|
|
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
|
|
|
|
NM_014362.4(HIBCH):c.1046-15A>G
|
|
|
|
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=)
|
rs1575690645
|
|
|
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)
|
rs1575690635
|
|
|
NM_014362.4(HIBCH):c.1070C>A (p.Pro357Gln)
|
|
|
|
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
|
|
|
|
NM_014362.4(HIBCH):c.1090C>T (p.Leu364=)
|
|
|
|
NM_014362.4(HIBCH):c.1128del (p.Phe376fs)
|
rs863225062
|
|
|
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
|
|
|
|
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
|
|
|
|
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)
|
rs749741622
|
|
|
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
|
|
|
|
NM_014362.4(HIBCH):c.138G>A (p.Thr46=)
|
|
|
|
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
|
|
|
|
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
|
|
|
|
NM_014362.4(HIBCH):c.219+16A>G
|
rs2105992508
|
|
|
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
|
|
|
|
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
|
|
|
|
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
|
|
|
|
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)
|
rs2105990079
|
|
|
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
|
|
|
|
NM_014362.4(HIBCH):c.304+9T>G
|
|
|
|
NM_014362.4(HIBCH):c.305-5C>T
|
|
|
|
NM_014362.4(HIBCH):c.312G>C (p.Ser104=)
|
|
|
|
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
|
|
|
|
NM_014362.4(HIBCH):c.35+8AG[2]
|
rs754126815
|
|
|
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
|
|
|
|
NM_014362.4(HIBCH):c.385+11del
|
rs374891270
|
|
|
NM_014362.4(HIBCH):c.385+2T>A
|
rs2105985080
|
|
|
NM_014362.4(HIBCH):c.405T>C (p.Tyr135=)
|
|
|
|
NM_014362.4(HIBCH):c.420T>A (p.His140Gln)
|
|
|
|
NM_014362.4(HIBCH):c.438+4A>G
|
|
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
|
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
|
|
|
|
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)
|
rs74832989
|
|
|
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)
|
rs1341440380
|
|
|
NM_014362.4(HIBCH):c.517+12G>T
|
|
|
|
NM_014362.4(HIBCH):c.517+16T>C
|
|
|
|
NM_014362.4(HIBCH):c.518-12A>G
|
|
|
|
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
|
|
|
|
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
|
|
|
|
NM_014362.4(HIBCH):c.609del (p.Gly204fs)
|
rs776592661
|
|
|
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
|
|
|
|
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
|
|
|
|
NM_014362.4(HIBCH):c.663+13A>G
|
|
|
|
NM_014362.4(HIBCH):c.663+14T>G
|
|
|
|
NM_014362.4(HIBCH):c.664-16del
|
|
|
|
NM_014362.4(HIBCH):c.664-18T>C
|
|
|
|
NM_014362.4(HIBCH):c.664-2A>G
|
|
|
|
NM_014362.4(HIBCH):c.664-7C>T
|
|
|
|
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
|
|
|
|
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
|
|
|
|
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
|
|
|
|
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
|
|
|
|
NM_014362.4(HIBCH):c.751-4A>G
|
|
|
|
NM_014362.4(HIBCH):c.751-5_751-2del
|
|
|
|
NM_014362.4(HIBCH):c.78+17G>A
|
|
|
|
NM_014362.4(HIBCH):c.783T>G (p.Leu261=)
|
rs2105934861
|
|
|
NM_014362.4(HIBCH):c.79-4A>T
|
|
|
|
NM_014362.4(HIBCH):c.79-9T>C
|
|
|
|
NM_014362.4(HIBCH):c.798C>T (p.Asp266=)
|
rs2105934821
|
|
|
NM_014362.4(HIBCH):c.809+12G>C
|
|
|
|
NM_014362.4(HIBCH):c.809+19C>T
|
rs1249772787
|
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
|
NM_014362.4(HIBCH):c.810-4A>G
|
|
|
|
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
|
|
|
|
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
|
|
|
|
NM_014362.4(HIBCH):c.850T>C (p.Leu284=)
|
|
|
|
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
|
|
|
|
NM_014362.4(HIBCH):c.891+16T>C
|
|
|
|
NM_014362.4(HIBCH):c.891+18T>C
|
rs959638999
|
|
|
NM_014362.4(HIBCH):c.891+9G>A
|
|
|
|
NM_014362.4(HIBCH):c.921A>G (p.Leu307=)
|
|
|
|
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
|
|
|
|
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
|
|
|
|
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
|
|
|
|
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
|
|
|
|
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)
|
|
|
|
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)
|
rs751484433
|
|
|
NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)
|
|
|
|
NM_014384.3(ACAD8):c.1057A>G (p.Met353Val)
|
rs2136083488
|
|
|
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)
|
rs995149464
|
|
|
NM_014384.3(ACAD8):c.109+19G>T
|
|
|
|
NM_014384.3(ACAD8):c.1092+1G>A
|
rs572619478
|
|
|
NM_014384.3(ACAD8):c.1092+1G>C
|
rs572619478
|
|
|
NM_014384.3(ACAD8):c.1092+3_1092+6del
|
rs780925587
|
|
|
NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)
|
|
|
|
NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)
|
|
|
|
NM_014384.3(ACAD8):c.110-6C>T
|
rs559628768
|
|
|
NM_014384.3(ACAD8):c.1119C>T (p.His373=)
|
|
|
|
NM_014384.3(ACAD8):c.1146C>T (p.Tyr382=)
|
|
|
|
NM_014384.3(ACAD8):c.1161C>T (p.Tyr387=)
|
|
|
|
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)
|
rs1218106884
|
|
|
NM_014384.3(ACAD8):c.1195+10G>A
|
|
|
|
NM_014384.3(ACAD8):c.1195+1G>A
|
rs1555067461
|
|
|
NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA
|
rs2136084544
|
|
|
NM_014384.3(ACAD8):c.1196-4_1196-2del
|
rs1940101302
|
|
|
NM_014384.3(ACAD8):c.1196-9C>G
|
|
|
|
NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile)
|
rs2136075017
|
|
|
NM_014384.3(ACAD8):c.1223T>C (p.Ile408Thr)
|
|
|
|
NM_014384.3(ACAD8):c.12C>T (p.Ser4=)
|
|
|
|
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
|
|
|
|
NM_014384.3(ACAD8):c.133C>T (p.Gln45Ter)
|
rs1591505809
|
|
|
NM_014384.3(ACAD8):c.198G>A (p.Glu66=)
|
|
|
|
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
|
|
|
|
NM_014384.3(ACAD8):c.210+7G>A
|
|
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
|
NM_014384.3(ACAD8):c.243A>C (p.Ala81=)
|
rs1591506881
|
|
|
NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)
|
|
|
|
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg)
|
rs886048022
|
|
|
NM_014384.3(ACAD8):c.27C>T (p.Phe9=)
|
rs2136068044
|
|
|
NM_014384.3(ACAD8):c.285G>A (p.Val95=)
|
|
|
|
NM_014384.3(ACAD8):c.293C>T (p.Ser98Phe)
|
rs948304437
|
|
|
NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro)
|
rs2136076309
|
|
|
NM_014384.3(ACAD8):c.32C>T (p.Ala11Val)
|
rs773403936
|
|
|
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
|
rs935057058
|
|
|
NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)
|
|
|
|
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter)
|
rs768701760
|
|
|
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys)
|
rs1353919966
|
|
|
NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)
|
|
|
|
NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)
|
|
|
|
NM_014384.3(ACAD8):c.380+7G>T
|
rs1335335796
|
|
|
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
|
|
|
|
NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg)
|
rs2136078898
|
|
|
NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg)
|
rs1301535598
|
|
|
NM_014384.3(ACAD8):c.441A>G (p.Pro147=)
|
|
|
|
NM_014384.3(ACAD8):c.444G>A (p.Pro148=)
|
|
|
|
NM_014384.3(ACAD8):c.459G>A (p.Glu153=)
|
|
|
|
NM_014384.3(ACAD8):c.473A>C (p.Tyr158Ser)
|
|
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
|
NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)
|
|
|
|
NM_014384.3(ACAD8):c.567+2del
|
|
|
|
NM_014384.3(ACAD8):c.567G>C (p.Lys189Asn)
|
|
|
|
NM_014384.3(ACAD8):c.568-2A>T
|
|
|
|
NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp)
|
rs774591276
|
|
|
NM_014384.3(ACAD8):c.589G>T (p.Glu197Ter)
|
|
|
|
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
|
|
|
|
NM_014384.3(ACAD8):c.621A>G (p.Thr207=)
|
rs1315587870
|
|
|
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)
|
rs1274417206
|
|
|
NM_014384.3(ACAD8):c.705+12T>C
|
|
|
|
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
|
|
|
|
NM_014384.3(ACAD8):c.758T>G (p.Val253Gly)
|
|
|
|
NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn)
|
rs2136082301
|
|
|
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala)
|
rs1246888184
|
|
|
NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)
|
|
|
|
NM_014384.3(ACAD8):c.804T>C (p.Ile268=)
|
rs757519037
|
|
|
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)
|
rs371156848
|
|
|
NM_014384.3(ACAD8):c.822C>T (p.Asn274=)
|
|
|
|
NM_014384.3(ACAD8):c.841+14G>T
|
|
|
|
NM_014384.3(ACAD8):c.842-19C>T
|
|
|
|
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp)
|
rs1939865617
|
|
|
NM_014384.3(ACAD8):c.856G>A (p.Gly286Arg)
|
|
|
|
NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)
|
|
|
|
NM_014384.3(ACAD8):c.867C>G (p.His289Gln)
|
rs121908421
|
|
|
NM_014384.3(ACAD8):c.867C>T (p.His289=)
|
|
|
|
NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)
|
|
|
|
NM_014384.3(ACAD8):c.886C>T (p.Arg296Ter)
|
|
|
|
NM_014384.3(ACAD8):c.895C>T (p.Leu299Phe)
|
|
|
|
NM_014384.3(ACAD8):c.905G>C (p.Arg302Pro)
|
rs121908422
|
|
|
NM_014384.3(ACAD8):c.909G>A (p.Lys303=)
|
rs2136082667
|
|
|
NM_014384.3(ACAD8):c.939+1G>T
|
|
|
|
NM_014384.3(ACAD8):c.940-13C>G
|
|
|
|
NM_014384.3(ACAD8):c.940-20C>T
|
|
|
|
NM_014384.3(ACAD8):c.951C>T (p.Phe317=)
|
|
|
|
NM_014384.3(ACAD8):c.965T>G (p.Met322Arg)
|
rs577976129
|
|
|
NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)
|
|
|
|
NM_015506.3(MMACHC):c.120C>T (p.His40=)
|
|
|
|
NM_015506.3(MMACHC):c.122dup (p.Pro42fs)
|
|
|
|
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
|
rs2149323203
|
|
|
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
|
|
|
|
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
|
|
|
|
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
|
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
|
|
|
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
|
rs936938761
|
|
|
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
|
|
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
|
|
NM_015506.3(MMACHC):c.147C>T (p.Ala49=)
|
rs1570829648
|
|
|
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
|
|
|
|
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
|
|
|
|
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
|
|
|
|
NM_015506.3(MMACHC):c.15C>T (p.Val5=)
|
rs902026116
|
|
|
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
|
|
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
|
|
|
|
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
|
|
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
|
|
|
|
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)
|
rs1570829757
|
|
|
NM_015506.3(MMACHC):c.181C>A (p.Arg61=)
|
|
|
|
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.189C>T (p.Leu63=)
|
|
|
|
NM_015506.3(MMACHC):c.195C>G (p.Pro65=)
|
|
|
|
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
|
|
|
|
NM_015506.3(MMACHC):c.210C>T (p.Cys70=)
|
rs2149323253
|
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
|
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
|
rs2149323265
|
|
|
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
|
|
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
|
|
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
|
|
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
|
rs2149323280
|
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
|
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
|
|
|
|
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
|
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
|
rs2149323292
|
|
|
NM_015506.3(MMACHC):c.271_272insC (p.Arg91fs)
|
|
|
|
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
|
|
|
|
NM_015506.3(MMACHC):c.276+13C>G
|
rs543041810
|
|
|
NM_015506.3(MMACHC):c.276+13C>T
|
|
|
|
NM_015506.3(MMACHC):c.276+13_276+14del
|
|
|
|
NM_015506.3(MMACHC):c.276+17T>C
|
|
|
|
NM_015506.3(MMACHC):c.276+20C>T
|
|
|
|
NM_015506.3(MMACHC):c.276+2T>C
|
|
|
|
NM_015506.3(MMACHC):c.276+2del
|
|
|
|
NM_015506.3(MMACHC):c.276+5G>A
|
|
|
|
NM_015506.3(MMACHC):c.276+8A>G
|
|
|
|
NM_015506.3(MMACHC):c.276+9G>A
|
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
|
NM_015506.3(MMACHC):c.277-10A>C
|
|
|
|
NM_015506.3(MMACHC):c.277-13T>C
|
|
|
|
NM_015506.3(MMACHC):c.277-14G>A
|
|
|
|
NM_015506.3(MMACHC):c.277-15T>G
|
|
|
|
NM_015506.3(MMACHC):c.277-17_277-16insA
|
|
|
|
NM_015506.3(MMACHC):c.277-1G>A
|
|
|
|
NM_015506.3(MMACHC):c.277-20T>C
|
|
|
|
NM_015506.3(MMACHC):c.277-2A>G
|
rs202000595
|
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
|
NM_015506.3(MMACHC):c.277-4C>T
|
|
|
|
NM_015506.3(MMACHC):c.277-6T>C
|
|
|
|
NM_015506.3(MMACHC):c.277-7G>A
|
rs1258697986
|
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
|
NM_015506.3(MMACHC):c.277-9C>T
|
|
|
|
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
|
|
|
|
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
|
|
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
|
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
|
NM_015506.3(MMACHC):c.288G>A (p.Glu96=)
|
rs1643664191
|
|
|
NM_015506.3(MMACHC):c.291G>A (p.Leu97=)
|
rs566356386
|
|
|
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
|
|
|
|
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.30G>A (p.Gln10=)
|
|
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
|
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
|
|
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
|
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter)
|
rs528744719
|
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
|
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
|
|
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
|
NM_015506.3(MMACHC):c.339C>G (p.Pro113=)
|
rs2149323560
|
|
|
NM_015506.3(MMACHC):c.33G>A (p.Lys11=)
|
rs770446383
|
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
|
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)
|
rs2149323564
|
|
|
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)
|
rs2149323564
|
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
|
|
NM_015506.3(MMACHC):c.354_365dup (p.Ala121_His122insGlnThrAlaAla)
|
|
|
|
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
|
|
|
|
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)
|
rs1643666556
|
|
|
NM_015506.3(MMACHC):c.366T>C (p.His122=)
|
rs1643666556
|
|
|
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)
|
rs1643666556
|
|
|
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
|
rs1643666589
|
|
|
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
|
|
|
|
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
|
|
|
|
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
|
|
|
|
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
|
|
|
|
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
|
|
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
|
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
|
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
|
|
|
|
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter)
|
rs2149323618
|
|
|
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
|
|
|
|
NM_015506.3(MMACHC):c.429+12A>C
|
|
|
|
NM_015506.3(MMACHC):c.429+13del
|
|
|
|
NM_015506.3(MMACHC):c.429+14T>A
|
|
|
|
NM_015506.3(MMACHC):c.429+14T>C
|
|
|
|
NM_015506.3(MMACHC):c.429+18_429+21del
|
|
|
|
NM_015506.3(MMACHC):c.429+1G>C
|
rs1643668441
|
|
|
NM_015506.3(MMACHC):c.429+20T>C
|
|
|
|
NM_015506.3(MMACHC):c.429+20T>G
|
|
|
|
NM_015506.3(MMACHC):c.429+7G>A
|
rs1227206156
|
|
|
NM_015506.3(MMACHC):c.429+7_429+31del
|
rs2149323628
|
|
|
NM_015506.3(MMACHC):c.429+9G>A
|
|
|
|
NM_015506.3(MMACHC):c.429+9G>C
|
|
|
|
NM_015506.3(MMACHC):c.430-10C>A
|
|
|
|
NM_015506.3(MMACHC):c.430-10C>T
|
rs550692873
|
|
|
NM_015506.3(MMACHC):c.430-11C>T
|
|
|
|
NM_015506.3(MMACHC):c.430-12C>T
|
|
|
|
NM_015506.3(MMACHC):c.430-13A>T
|
|
|
|
NM_015506.3(MMACHC):c.430-16T>C
|
|
|
|
NM_015506.3(MMACHC):c.430-8C>T
|
rs1217401490
|
|
|
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
|
|
|
|
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.433del (p.Ile145fs)
|
|
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
|
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
|
|
|
|
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
|
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
|
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
|
|
|
|
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
|
|
|
|
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
|
|
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
|
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)
|
rs756413692
|
|
|
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
|
|
|
|
NM_015506.3(MMACHC):c.45G>A (p.Thr15=)
|
rs750623781
|
|
|
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
|
|
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
|
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
|
|
|
|
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)
|
rs768353633
|
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
|
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
|
|
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
|
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
|
|
|
|
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)
|
rs2149323826
|
|
|
NM_015506.3(MMACHC):c.481C>A (p.Arg161=)
|
rs370596113
|
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
|
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
|
|
|
|
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
|
|
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
|
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
|
rs765960386
|
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
|
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
|
rs761111018
|
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
|
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
|
|
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
|
NM_015506.3(MMACHC):c.501A>C (p.Pro167=)
|
rs1366306237
|
|
|
NM_015506.3(MMACHC):c.501A>G (p.Pro167=)
|
rs1366306237
|
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
|
|
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
|
NM_015506.3(MMACHC):c.534del (p.Lys178fs)
|
rs2149323872
|
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
|
NM_015506.3(MMACHC):c.546T>C (p.Cys182=)
|
rs2149323890
|
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
|
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
|
|
|
|
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
|
|
|
|
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
|
|
|
|
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
|
rs1553162934
|
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
|
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
|
rs1397062260
|
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
|
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
|
|
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
|
NM_015506.3(MMACHC):c.573C>T (p.Ala191=)
|
rs750572915
|
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
|
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
|
rs766342926
|
|
|
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
|
|
|
|
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
|
|
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
|
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
|
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
|
|
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
|
rs1399932916
|
|
|
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)
|
rs796051997
|
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
|
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)
|
rs1643682280
|
|
|
NM_015506.3(MMACHC):c.609dup (p.Thr204fs)
|
|
|
|
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
|
|
|
|
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.618G>A (p.Arg206=)
|
|
|
|
NM_015506.3(MMACHC):c.619del (p.Asp207fs)
|
rs765913293
|
|
|
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.627G>A (p.Val209=)
|
|
|
|
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
|
rs1327886469
|
|
|
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
|
|
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
|
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)
|
rs192924272
|
|
|
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
|
|
|
|
NM_015506.3(MMACHC):c.63C>T (p.Phe21=)
|
rs2149320920
|
|
|
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
|
|
|
|
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
|
|
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
|
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer)
|
rs2149323994
|
|
|
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
|
|
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
|
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)
|
rs1363738186
|
|
|
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.661_664dup (p.Tyr222fs)
|
|
|
|
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
|
|
|
|
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
|
|
|
|
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala)
|
rs781527733
|
|
|
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
|
|
|
|
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
|
rs2149324023
|
|
|
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
|
|
|
|
NM_015506.3(MMACHC):c.696C>G (p.Ala232=)
|
rs767496391
|
|
|
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
|
|
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
|
|
|
|
NM_015506.3(MMACHC):c.711T>C (p.Ala237=)
|
|
|
|
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
|
NM_015506.3(MMACHC):c.720A>G (p.Ser240=)
|
rs764969563
|
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
|
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
|
rs891106099
|
|
|
NM_015506.3(MMACHC):c.732T>C (p.Ser244=)
|
rs1173232857
|
|
|
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
|
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
|
|
NM_015506.3(MMACHC):c.753C>A (p.Pro251=)
|
rs1643688309
|
|
|
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
|
rs1643688309
|
|
|
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
|
|
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
|
|
|
|
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
|
|
|
|
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
|
rs771203889
|
|
|
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.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
|
NM_015506.3(MMACHC):c.771C>A (p.Pro257=)
|
|
|
|
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
|
|
|
|
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
|
|
|
|
NM_015506.3(MMACHC):c.78C>T (p.Phe26=)
|
rs770431439
|
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
|
NM_015506.3(MMACHC):c.81+10T>G
|
rs2149320953
|
|
|
NM_015506.3(MMACHC):c.81+11C>A
|
|
|
|
NM_015506.3(MMACHC):c.81+13C>G
|
|
|
|
NM_015506.3(MMACHC):c.81+13C>T
|
|
|
|
NM_015506.3(MMACHC):c.81+15C>T
|
|
|
|
NM_015506.3(MMACHC):c.81+17T>C
|
|
|
|
NM_015506.3(MMACHC):c.81+1G>A
|
rs745366624
|
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
|
NM_015506.3(MMACHC):c.81+1G>T
|
|
|
|
NM_015506.3(MMACHC):c.81+2T>C
|
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
|
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
|
|
|
|
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
|
rs1311947307
|
|
|
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
|
rs754568180
|
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
|
NM_015506.3(MMACHC):c.82-16G>C
|
|
|
|
NM_015506.3(MMACHC):c.82-17T>C
|
|
|
|
NM_015506.3(MMACHC):c.82-18C>T
|
|
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
|
NM_015506.3(MMACHC):c.82-2A>G
|
|
|
|
NM_015506.3(MMACHC):c.82-7G>A
|
|
|
|
NM_015506.3(MMACHC):c.82-8T>C
|
|
|
|
NM_015506.3(MMACHC):c.822C>A (p.Val274=)
|
rs746114287
|
|
|
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
|
rs746114287
|
|
|
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
|
rs1288893138
|
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
|
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
|
|
|
|
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
|
|
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
|
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
|
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer)
|
rs1289618918
|
|
|
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
|
|
|
|
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
|
|
|
|
NM_015702.3(MMADHC):c.10-11G>C
|
|
|
|
NM_015702.3(MMADHC):c.10-13G>A
|
|
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
|
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
|
|
|
|
NM_015702.3(MMADHC):c.105A>T (p.Gly35=)
|
rs761480889
|
|
|
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
|
|
|
|
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
|
|
|
|
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
|
|
|
|
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
|
|
|
|
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
|
|
|
|
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
|
rs1190732521
|
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
|
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
|
|
|
|
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
|
|
|
|
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)
|
rs2105049895
|
|
|
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
|
|
|
|
NM_015702.3(MMADHC):c.154+17A>C
|
|
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
|
NM_015702.3(MMADHC):c.154+20G>C
|
|
|
|
NM_015702.3(MMADHC):c.154+9A>T
|
rs2105049874
|
|
|
NM_015702.3(MMADHC):c.155-10T>C
|
|
|
|
NM_015702.3(MMADHC):c.155-11dup
|
rs1573878813
|
|
|
NM_015702.3(MMADHC):c.155-12_155-10del
|
|
|
|
NM_015702.3(MMADHC):c.155-16T>G
|
|
|
|
NM_015702.3(MMADHC):c.155-16del
|
|
|
|
NM_015702.3(MMADHC):c.155-17T>C
|
|
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
|
NM_015702.3(MMADHC):c.155-6C>T
|
|
|
|
NM_015702.3(MMADHC):c.155-7T>C
|
rs1305728146
|
|
|
NM_015702.3(MMADHC):c.155-8C>G
|
rs1349035917
|
|
|
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
|
|
|
|
NM_015702.3(MMADHC):c.165A>G (p.Thr55=)
|
|
|
|
NM_015702.3(MMADHC):c.168G>A (p.Val56=)
|
rs2105048289
|
|
|
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
|
|
|
|
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
|
|
|
|
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
|
|
|
|
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)
|
rs2105048270
|
|
|
NM_015702.3(MMADHC):c.192C>G (p.Pro64=)
|
|
|
|
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
|
|
|
|
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)
|
rs1334273037
|
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
|
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
|
rs1327529103
|
|
|
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
|
|
|
|
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
|
|
|
|
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
|
|
|
|
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
|
|
|
|
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
|
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
|
|
|
|
NM_015702.3(MMADHC):c.249C>T (p.His83=)
|
|
|
|
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
|
|
|
|
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
|
|
|
|
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
|
rs1573878695
|
|
|
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
|
|
|
|
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
|
|
|
|
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
|
|
|
|
NM_015702.3(MMADHC):c.309A>T (p.Leu103=)
|
rs1053884096
|
|
|
NM_015702.3(MMADHC):c.30A>G (p.Arg10=)
|
rs749344711
|
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
|
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
|
|
|
|
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
|
|
|
|
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
|
|
|
|
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter)
|
rs2105048127
|
|
|
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
|
|
|
|
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
|
|
|
|
NM_015702.3(MMADHC):c.372+17A>G
|
|
|
|
NM_015702.3(MMADHC):c.372+19_372+20del
|
|
|
|
NM_015702.3(MMADHC):c.372+8G>A
|
rs2105048110
|
|
|
NM_015702.3(MMADHC):c.372+8G>C
|
rs2105048110
|
|
|
NM_015702.3(MMADHC):c.372+8G>T
|
|
|
|
NM_015702.3(MMADHC):c.373-10dup
|
rs1682721920
|
|
|
NM_015702.3(MMADHC):c.373-13T>C
|
|
|
|
NM_015702.3(MMADHC):c.373-13T>G
|
|
|
|
NM_015702.3(MMADHC):c.373-14C>G
|
|
|
|
NM_015702.3(MMADHC):c.373-18T>C
|
|
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
|
NM_015702.3(MMADHC):c.373-4T>G
|
|
|
|
NM_015702.3(MMADHC):c.373-5C>A
|
|
|
|
NM_015702.3(MMADHC):c.373-5C>T
|
|
|
|
NM_015702.3(MMADHC):c.373-8C>G
|
|
|
|
NM_015702.3(MMADHC):c.373-8C>T
|
|
|
|
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
|
|
|
|
NM_015702.3(MMADHC):c.393A>G (p.Glu131=)
|
rs1682721203
|
|
|
NM_015702.3(MMADHC):c.39C>T (p.Ser13=)
|
rs543128117
|
|
|
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
|
|
|
|
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
|
|
|
|
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)
|
rs768142805
|
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
|
NM_015702.3(MMADHC):c.456A>G (p.Thr152=)
|
rs374470946
|
|
|
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)
|
rs1323984126
|
|
|
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)
|
rs1226772166
|
|
|
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
|
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
|
NM_015702.3(MMADHC):c.478+10G>A
|
|
|
|
NM_015702.3(MMADHC):c.478+12T>C
|
|
|
|
NM_015702.3(MMADHC):c.478+15A>T
|
|
|
|
NM_015702.3(MMADHC):c.478+19T>G
|
|
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
|
NM_015702.3(MMADHC):c.478+7C>A
|
|
|
|
NM_015702.3(MMADHC):c.478+7C>T
|
rs2105046042
|
|
|
NM_015702.3(MMADHC):c.478+8A>T
|
|
|
|
NM_015702.3(MMADHC):c.478+9T>C
|
rs1573877066
|
|
|
NM_015702.3(MMADHC):c.479-11_479-9del
|
rs777304368
|
|
|
NM_015702.3(MMADHC):c.479-13T>C
|
|
|
|
NM_015702.3(MMADHC):c.479-15T>A
|
|
|
|
NM_015702.3(MMADHC):c.479-18G>C
|
|
|
|
NM_015702.3(MMADHC):c.479-20A>G
|
|
|
|
NM_015702.3(MMADHC):c.479-4G>A
|
rs2105045611
|
|
|
NM_015702.3(MMADHC):c.479-6T>C
|
rs1682708794
|
|
|
NM_015702.3(MMADHC):c.479-7T>A
|
rs1246748373
|
|
|
NM_015702.3(MMADHC):c.479-7T>C
|
rs1246748373
|
|
|
NM_015702.3(MMADHC):c.479-8A>T
|
|
|
|
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
|
|
|
|
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
|
|
|
|
NM_015702.3(MMADHC):c.48A>C (p.Pro16=)
|
rs2105050018
|
|
|
NM_015702.3(MMADHC):c.507T>C (p.Ala169=)
|
rs1347714473
|
|
|
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
|
|
|
|
NM_015702.3(MMADHC):c.525T>A (p.Ile175=)
|
|
|
|
NM_015702.3(MMADHC):c.531T>C (p.Thr177=)
|
rs369822209
|
|
|
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
|
|
|
|
NM_015702.3(MMADHC):c.534A>G (p.Val178=)
|
rs1268371654
|
|
|
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
|
|
|
|
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
|
|
|
|
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
|
rs1308639482
|
|
|
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
|
|
|
|
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
|
|
|
|
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
|
|
|
|
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
|
rs1682706954
|
|
|
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
|
|
|
|
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
|
|
|
|
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
|
|
|
|
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
|
|
|
|
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs)
|
rs2105045491
|
|
|
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
|
|
|
|
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
|
|
|
|
NM_015702.3(MMADHC):c.601T>C (p.Leu201=)
|
rs2105045479
|
|
|
NM_015702.3(MMADHC):c.609+11C>G
|
|
|
|
NM_015702.3(MMADHC):c.609+13A>G
|
|
|
|
NM_015702.3(MMADHC):c.609+14T>C
|
|
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
|
NM_015702.3(MMADHC):c.609+8T>G
|
|
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
|
NM_015702.3(MMADHC):c.610-12C>T
|
|
|
|
NM_015702.3(MMADHC):c.610-13A>G
|
|
|
|
NM_015702.3(MMADHC):c.610-1G>A
|
|
|
|
NM_015702.3(MMADHC):c.610-4G>A
|
rs776311269
|
|
|
NM_015702.3(MMADHC):c.610-8C>T
|
|
|
|
NM_015702.3(MMADHC):c.610-8del
|
|
|
|
NM_015702.3(MMADHC):c.610-9C>A
|
|
|
|
NM_015702.3(MMADHC):c.610-9C>G
|
|
|
|
NM_015702.3(MMADHC):c.612C>T (p.Phe204=)
|
rs1573874420
|
|
|
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
|
|
|
|
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
|
|
|
|
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
|
|
|
|
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs)
|
rs2105042265
|
|
|
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
|
|
|
|
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
|
rs141093638
|
|
|
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
|
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
|
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)
|
rs2105042235
|
|
|
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)
|
rs2105042231
|
|
|
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
|
|
|
|
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)
|
rs766184567
|
|
|
NM_015702.3(MMADHC):c.684A>G (p.Ser228=)
|
|
|
|
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
|
|
|
|
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)
|
rs2105042210
|
|
|
NM_015702.3(MMADHC):c.696+16T>C
|
|
|
|
NM_015702.3(MMADHC):c.696+17T>A
|
|
|
|
NM_015702.3(MMADHC):c.697-10A>G
|
|
|
|
NM_015702.3(MMADHC):c.697-16G>A
|
|
|
|
NM_015702.3(MMADHC):c.697-17C>T
|
|
|
|
NM_015702.3(MMADHC):c.697-18del
|
|
|
|
NM_015702.3(MMADHC):c.697-21_697-7dup
|
|
|
|
NM_015702.3(MMADHC):c.697-4T>C
|
|
|
|
NM_015702.3(MMADHC):c.697-5C>T
|
|
|
|
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)
|
rs550333538
|
|
|
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
|
|
|
|
NM_015702.3(MMADHC):c.714A>C (p.Thr238=)
|
rs2105041533
|
|
|
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
|
|
|
|
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
|
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
|
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)
|
rs549522925
|
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
|
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
|
rs773493767
|
|
|
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)
|
rs2105041468
|
|
|
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
|
|
|
|
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
|
|
|
|
NM_015702.3(MMADHC):c.795T>C (p.Ile265=)
|
rs1682615780
|
|
|
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)
|
rs2105041421
|
|
|
NM_015702.3(MMADHC):c.819T>C (p.His273=)
|
rs752425275
|
|
|
NM_015702.3(MMADHC):c.822A>G (p.Val274=)
|
rs1474967244
|
|
|
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
|
|
|
|
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
|
|
|
|
NM_015702.3(MMADHC):c.840C>T (p.Phe280=)
|
rs2105041390
|
|
|
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
|
rs559044965
|
|
|
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
|
|
|
|
NM_015702.3(MMADHC):c.864T>C (p.His288=)
|
|
|
|
NM_015702.3(MMADHC):c.876A>G (p.Lys292=)
|
rs1558844562
|
|
|
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
|
|
|
|
NM_015702.3(MMADHC):c.885A>C (p.Gly295=)
|
rs746282965
|
|
|
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)
|
rs746282965
|
|
|
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
|
|
|
|
NM_015702.3(MMADHC):c.9+12A>T
|
|
|
|
NM_015702.3(MMADHC):c.9+16C>T
|
|
|
|
NM_015702.3(MMADHC):c.9+17T>A
|
rs372601477
|
|
|
NM_015702.3(MMADHC):c.9+17T>G
|
|
|
|
NM_015702.3(MMADHC):c.9+18T>G
|
rs2105053453
|
|
|
NM_015702.3(MMADHC):c.9+19A>C
|
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
|
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)
|
rs2105049979
|
|
|
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
|
|
|
|
NM_015702.3(MMADHC):c.96G>T (p.Ser32=)
|
rs1366609158
|
|
|
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)
|
rs368111926
|
|
|
NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
|
|
|
|
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr)
|
rs2149844901
|
|
|
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser)
|
rs1766127830
|
|
|
NM_018368.4(LMBRD1):c.1075C>T (p.Leu359=)
|
|
|
|
NM_018368.4(LMBRD1):c.1083+11_1083+14del
|
|
|
|
NM_018368.4(LMBRD1):c.1083+12A>T
|
|
|
|
NM_018368.4(LMBRD1):c.1083+15A>C
|
|
|
|
NM_018368.4(LMBRD1):c.1083+16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1084-12dup
|
rs757172535
|
|
|
NM_018368.4(LMBRD1):c.1084-16C>A
|
|
|
|
NM_018368.4(LMBRD1):c.1084-16C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1084-1G>A
|
|
|
|
NM_018368.4(LMBRD1):c.1084-20A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1084-3dup
|
|
|
|
NM_018368.4(LMBRD1):c.1084-4del
|
rs757172535
|
|
|
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
|
|
|
|
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
|
|
|
|
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
|
|
|
|
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
|
|
|
|
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr)
|
rs2149844500
|
|
|
NM_018368.4(LMBRD1):c.1140T>G (p.Thr380=)
|
|
|
|
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
|
|
|
|
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
|
|
|
|
NM_018368.4(LMBRD1):c.1185T>A (p.Ile395=)
|
|
|
|
NM_018368.4(LMBRD1):c.1187_1188+2del
|
|
|
|
NM_018368.4(LMBRD1):c.1188+10T>A
|
|
|
|
NM_018368.4(LMBRD1):c.1188+16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1189-12T>G
|
|
|
|
NM_018368.4(LMBRD1):c.1189-13C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1189-17C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1189-19G>C
|
rs767672251
|
|
|
NM_018368.4(LMBRD1):c.1189-1G>A
|
rs2149843526
|
|
|
NM_018368.4(LMBRD1):c.1189-4C>G
|
|
|
|
NM_018368.4(LMBRD1):c.1189-4C>T
|
rs199650812
|
|
|
NM_018368.4(LMBRD1):c.1189-8C>A
|
|
|
|
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
|
|
|
|
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
|
|
|
|
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
|
|
|
|
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
|
|
|
|
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
|
|
|
|
NM_018368.4(LMBRD1):c.1230C>G (p.Leu410=)
|
|
|
|
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
|
|
|
|
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
|
|
|
|
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
|
|
|
|
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
|
|
|
|
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
|
|
|
|
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
|
|
|
|
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
|
|
|
|
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
|
|
|
|
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
|
NM_018368.4(LMBRD1):c.1338+1G>C
|
|
|
|
NM_018368.4(LMBRD1):c.1339-12T>G
|
|
|
|
NM_018368.4(LMBRD1):c.1339-18T>A
|
|
|
|
NM_018368.4(LMBRD1):c.1339-8T>C
|
|
|
|
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
|
|
|
|
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
|
|
|
|
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
|
|
|
|
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
|
|
|
|
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
|
|
|
|
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
|
|
|
|
NM_018368.4(LMBRD1):c.1417+12T>C
|
|
|
|
NM_018368.4(LMBRD1):c.1418-14A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
|
|
|
|
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
|
|
|
|
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
|
|
|
|
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
|
|
|
|
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
|
|
|
|
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
|
|
|
|
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
|
|
|
|
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
|
|
|
|
NM_018368.4(LMBRD1):c.1509+12T>C
|
rs2149832420
|
|
|
NM_018368.4(LMBRD1):c.1509+13A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1509+15C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1509+18A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1509+20G>A
|
rs116095397
|
|
|
NM_018368.4(LMBRD1):c.1509+7G>A
|
|
|
|
NM_018368.4(LMBRD1):c.1510-11T>C
|
|
|
|
NM_018368.4(LMBRD1):c.1510-16T>G
|
|
|
|
NM_018368.4(LMBRD1):c.1510-4A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1510-9A>C
|
|
|
|
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
|
|
|
|
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe)
|
rs758878362
|
|
|
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
|
|
|
|
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
|
|
|
|
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
|
|
|
|
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
|
|
|
|
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
|
|
|
|
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)
|
rs761378514
|
|
|
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
|
|
|
|
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
|
|
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
|
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
|
|
|
|
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val)
|
rs750928457
|
|
|
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
|
|
|
|
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
|
|
|
|
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
|
|
|
|
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
|
|
|
|
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
|
|
|
|
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
|
|
|
|
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
|
|
|
|
NM_018368.4(LMBRD1):c.246+10A>G
|
|
|
|
NM_018368.4(LMBRD1):c.246+16C>T
|
|
|
|
NM_018368.4(LMBRD1):c.247-11T>G
|
|
|
|
NM_018368.4(LMBRD1):c.247-13C>A
|
|
|
|
NM_018368.4(LMBRD1):c.247-14T>A
|
|
|
|
NM_018368.4(LMBRD1):c.247-17G>A
|
|
|
|
NM_018368.4(LMBRD1):c.247-20A>G
|
|
|
|
NM_018368.4(LMBRD1):c.247-6T>C
|
|
|
|
NM_018368.4(LMBRD1):c.247-8T>A
|
rs769329039
|
|
|
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
|
|
|
|
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=)
|
rs769952932
|
|
|
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val)
|
rs756284919
|
|
|
NM_018368.4(LMBRD1):c.307+13C>T
|
|
|
|
NM_018368.4(LMBRD1):c.307+15G>A
|
|
|
|
NM_018368.4(LMBRD1):c.307+2del
|
|
|
|
NM_018368.4(LMBRD1):c.308-14_308-12del
|
|
|
|
NM_018368.4(LMBRD1):c.308-17A>G
|
|
|
|
NM_018368.4(LMBRD1):c.308-1G>A
|
|
|
|
NM_018368.4(LMBRD1):c.308-5C>T
|
|
|
|
NM_018368.4(LMBRD1):c.308-6C>T
|
|
|
|
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
|
|
|
|
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
|
|
|
|
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
|
|
|
|
NM_018368.4(LMBRD1):c.357C>T (p.Val119=)
|
rs2149877968
|
|
|
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
|
|
|
|
NM_018368.4(LMBRD1):c.363C>T (p.Phe121=)
|
|
|
|
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
|
rs1765174962
|
|
|
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
|
|
|
|
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
|
|
|
|
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
|
|
|
|
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
|
|
|
|
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
|
|
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
|
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
|
rs1582124917
|
|
|
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
|
|
|
|
NM_018368.4(LMBRD1):c.405+17T>A
|
|
|
|
NM_018368.4(LMBRD1):c.405+18A>G
|
|
|
|
NM_018368.4(LMBRD1):c.405+19G>C
|
|
|
|
NM_018368.4(LMBRD1):c.405+2T>C
|
|
|
|
NM_018368.4(LMBRD1):c.405+9C>A
|
|
|
|
NM_018368.4(LMBRD1):c.406-16del
|
|
|
|
NM_018368.4(LMBRD1):c.406-18T>C
|
|
|
|
NM_018368.4(LMBRD1):c.406-8G>A
|
|
|
|
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
|
|
|
|
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
|
|
|
|
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
|
|
|
|
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
|
|
|
|
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
|
|
|
|
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
|
|
|
|
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
|
|
|
|
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
|
|
|
|
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
|
|
|
|
NM_018368.4(LMBRD1):c.473+10G>A
|
|
|
|
NM_018368.4(LMBRD1):c.473+10G>C
|
|
|
|
NM_018368.4(LMBRD1):c.473+11A>T
|
|
|
|
NM_018368.4(LMBRD1):c.474-16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.474-4G>A
|
|
|
|
NM_018368.4(LMBRD1):c.474-6T>C
|
|
|
|
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
|
|
|
|
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
|
|
|
|
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
|
|
|
|
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
|
|
|
|
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
|
|
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
|
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
|
|
|
|
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
|
|
|
|
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
|
|
|
|
NM_018368.4(LMBRD1):c.54C>T (p.Phe18=)
|
|
|
|
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.562+10G>T
|
|
|
|
NM_018368.4(LMBRD1):c.562+13T>C
|
|
|
|
NM_018368.4(LMBRD1):c.562+14T>G
|
|
|
|
NM_018368.4(LMBRD1):c.562+15T>C
|
|
|
|
NM_018368.4(LMBRD1):c.562+18del
|
|
|
|
NM_018368.4(LMBRD1):c.562+18dup
|
|
|
|
NM_018368.4(LMBRD1):c.562+1G>C
|
|
|
|
NM_018368.4(LMBRD1):c.562+1G>T
|
|
|
|
NM_018368.4(LMBRD1):c.562+7A>G
|
|
|
|
NM_018368.4(LMBRD1):c.563-10T>G
|
|
|
|
NM_018368.4(LMBRD1):c.563-11T>C
|
rs1767012664
|
|
|
NM_018368.4(LMBRD1):c.563-13del
|
|
|
|
NM_018368.4(LMBRD1):c.563-15T>A
|
|
|
|
NM_018368.4(LMBRD1):c.563-18G>A
|
|
|
|
NM_018368.4(LMBRD1):c.563-19A>C
|
|
|
|
NM_018368.4(LMBRD1):c.563-19A>G
|
|
|
|
NM_018368.4(LMBRD1):c.563-20_563-19del
|
|
|
|
NM_018368.4(LMBRD1):c.563-6del
|
|
|
|
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
|
|
|
|
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
|
|
|
|
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
|
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
|
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
|
|
|
|
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=)
|
rs2149901083
|
|
|
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
|
|
|
|
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
|
|
|
|
NM_018368.4(LMBRD1):c.636+13G>A
|
|
|
|
NM_018368.4(LMBRD1):c.636+18A>G
|
|
|
|
NM_018368.4(LMBRD1):c.636+19A>C
|
|
|
|
NM_018368.4(LMBRD1):c.636+7G>T
|
|
|
|
NM_018368.4(LMBRD1):c.637-15T>A
|
|
|
|
NM_018368.4(LMBRD1):c.637-15T>C
|
|
|
|
NM_018368.4(LMBRD1):c.637-18C>A
|
|
|
|
NM_018368.4(LMBRD1):c.637-8T>C
|
|
|
|
NM_018368.4(LMBRD1):c.637-8_637-3del
|
|
|
|
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
|
|
|
|
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
|
|
|
|
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
|
|
|
|
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser)
|
rs2149856480
|
|
|
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
|
|
|
|
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys)
|
rs2149856461
|
|
|
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
|
|
|
|
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
|
|
|
|
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
|
|
|
|
NM_018368.4(LMBRD1):c.69+10G>T
|
|
|
|
NM_018368.4(LMBRD1):c.69+11C>G
|
|
|
|
NM_018368.4(LMBRD1):c.69+11C>T
|
|
|
|
NM_018368.4(LMBRD1):c.69+12G>A
|
|
|
|
NM_018368.4(LMBRD1):c.69+15T>C
|
|
|
|
NM_018368.4(LMBRD1):c.69+17G>C
|
|
|
|
NM_018368.4(LMBRD1):c.69+1G>A
|
|
|
|
NM_018368.4(LMBRD1):c.69+20T>C
|
|
|
|
NM_018368.4(LMBRD1):c.69+2T>G
|
|
|
|
NM_018368.4(LMBRD1):c.69+8dup
|
|
|
|
NM_018368.4(LMBRD1):c.69+9G>A
|
|
|
|
NM_018368.4(LMBRD1):c.690del (p.Ala231fs)
|
|
|
|
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)
|
rs753043203
|
|
|
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
|
|
|
|
NM_018368.4(LMBRD1):c.70-12G>T
|
|
|
|
NM_018368.4(LMBRD1):c.70-20C>G
|
|
|
|
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
|
|
|
|
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln)
|
rs1766553572
|
|
|
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
|
|
|
|
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
|
|
|
|
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
|
|
|
|
NM_018368.4(LMBRD1):c.762+11G>A
|
|
|
|
NM_018368.4(LMBRD1):c.762+12T>C
|
|
|
|
NM_018368.4(LMBRD1):c.762+15T>C
|
|
|
|
NM_018368.4(LMBRD1):c.762+1G>A
|
|
|
|
NM_018368.4(LMBRD1):c.762+7T>G
|
|
|
|
NM_018368.4(LMBRD1):c.763-10T>C
|
|
|
|
NM_018368.4(LMBRD1):c.763-11G>C
|
|
|
|
NM_018368.4(LMBRD1):c.763-13C>A
|
|
|
|
NM_018368.4(LMBRD1):c.763-19T>G
|
|
|
|
NM_018368.4(LMBRD1):c.763-2A>C
|
|
|
|
NM_018368.4(LMBRD1):c.763-2A>G
|
|
|
|
NM_018368.4(LMBRD1):c.763-6_771del
|
|
|
|
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
|
|
|
|
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
|
|
|
|
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
|
|
|
|
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
|
|
|
|
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
|
|
|
|
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
|
|
|
|
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
|
|
|
|
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
|
|
|
|
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
|
|
|
|
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
|
|
|
|
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
|
|
|
|
NM_018368.4(LMBRD1):c.915+16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.915+16A>T
|
|
|
|
NM_018368.4(LMBRD1):c.915+18A>T
|
|
|
|
NM_018368.4(LMBRD1):c.915+19A>G
|
|
|
|
NM_018368.4(LMBRD1):c.916-13T>C
|
|
|
|
NM_018368.4(LMBRD1):c.916-16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.916-7C>T
|
|
|
|
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
|
|
|
|
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val)
|
rs1409901040
|
|
|
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val)
|
rs2149845543
|
|
|
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
|
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
|
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
|
|
|
|
NM_018368.4(LMBRD1):c.980+10G>A
|
|
|
|
NM_018368.4(LMBRD1):c.980+13G>A
|
|
|
|
NM_018368.4(LMBRD1):c.980+14A>G
|
|
|
|
NM_018368.4(LMBRD1):c.980+15C>T
|
|
|
|
NM_018368.4(LMBRD1):c.980+3A>G
|
|
|
|
NM_018368.4(LMBRD1):c.981-10T>A
|
|
|
|
NM_018368.4(LMBRD1):c.981-10T>C
|
|
|
|
NM_018368.4(LMBRD1):c.981-10dup
|
rs202207965
|
|
|
NM_018368.4(LMBRD1):c.981-17T>C
|
|
|
|
NM_018368.4(LMBRD1):c.981-3del
|
|
|
|
NM_018368.4(LMBRD1):c.981-4T>G
|
|
|
|
NM_018368.4(LMBRD1):c.981-4_981-3dup
|
|
|
|
NM_018368.4(LMBRD1):c.981-8T>A
|
|
|
|
NM_018368.4(LMBRD1):c.981-9T>A
|
rs2149844964
|
|
|
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr)
|
rs766881860
|
|
|
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
|
|
|
|
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
|
|
|
|
NM_018368.4(LMBRD1):c.9T>G (p.Thr3=)
|
|
|
|
NM_020166.5(MCCC1):c.1000A>G (p.Met334Val)
|
|
|
|
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)
|
|
|
|
NM_020166.5(MCCC1):c.1012A>G (p.Thr338Ala)
|
|
|
|
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
|
|
|
|
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
|
|
|
|
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn)
|
rs1714478055
|
|
|
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
|
|
|
|
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala)
|
rs1714474829
|
|
|
NM_020166.5(MCCC1):c.1068G>A (p.Val356=)
|
rs1175377728
|
|
|
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=)
|
rs773029355
|
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
|
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=)
|
rs2108486547
|
|
|
NM_020166.5(MCCC1):c.1083+15dup
|
rs377092260
|
|
|
NM_020166.5(MCCC1):c.1083+16C>G
|
|
|
|
NM_020166.5(MCCC1):c.1083+9A>T
|
rs376902416
|
|
|
NM_020166.5(MCCC1):c.1084-13A>G
|
|
|
|
NM_020166.5(MCCC1):c.1084-1G>C
|
rs2108479565
|
|
|
NM_020166.5(MCCC1):c.1084-1G>T
|
|
|
|
NM_020166.5(MCCC1):c.1084-2A>C
|
|
|
|
NM_020166.5(MCCC1):c.1084-6T>C
|
|
|
|
NM_020166.5(MCCC1):c.1084-8A>G
|
|
|
|
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=)
|
|
|
|
NM_020166.5(MCCC1):c.108A>G (p.Gln36=)
|
rs1577367769
|
|
|
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=)
|
rs777891780
|
|
|
NM_020166.5(MCCC1):c.1110G>A (p.Leu370=)
|
|
|
|
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
|
rs755328329
|
|
|
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=)
|
rs752061963
|
|
|
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val)
|
rs2108479414
|
|
|
NM_020166.5(MCCC1):c.1126del (p.Thr376fs)
|
|
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
|
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter)
|
rs2108479383
|
|
|
NM_020166.5(MCCC1):c.1133dup (p.His380fs)
|
|
|
|
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup)
|
rs2108479359
|
|
|
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
|
|
|
|
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
|
rs1714100545
|
|
|
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
|
|
|
|
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
|
|
|
|
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly)
|
rs1553854969
|
|
|
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
|
|
|
|
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=)
|
rs1285687401
|
|
|
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)
|
rs796051985
|
|
|
NM_020166.5(MCCC1):c.1197A>G (p.Ala399=)
|
|
|
|
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)
|
rs2108479136
|
|
|
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1209G>C (p.Val403=)
|
rs1016870729
|
|
|
NM_020166.5(MCCC1):c.1210dup (p.His404fs)
|
rs1577276144
|
|
|
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
|
|
|
|
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
|
|
|
|
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
|
rs1714092180
|
|
|
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
|
rs1577276072
|
|
|
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly)
|
rs1484347924
|
|
|
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=)
|
rs1714087455
|
|
|
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)
|
rs2108569910
|
|
|
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
|
|
|
|
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
|
|
|
|
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs)
|
rs1560224024
|
|
|
NM_020166.5(MCCC1):c.1260A>G (p.Val420=)
|
rs2108478875
|
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
|
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter)
|
rs2108478837
|
|
|
NM_020166.5(MCCC1):c.1267+15A>G
|
|
|
|
NM_020166.5(MCCC1):c.1267+9A>G
|
rs2108478831
|
|
|
NM_020166.5(MCCC1):c.1268-18C>T
|
|
|
|
NM_020166.5(MCCC1):c.1268-18del
|
|
|
|
NM_020166.5(MCCC1):c.1268-19C>A
|
|
|
|
NM_020166.5(MCCC1):c.1268-19C>T
|
|
|
|
NM_020166.5(MCCC1):c.1268-20A>C
|
|
|
|
NM_020166.5(MCCC1):c.1268-2A>G
|
rs2108474093
|
|
|
NM_020166.5(MCCC1):c.1268-6T>C
|
|
|
|
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
|
rs1713861760
|
|
|
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
|
|
|
|
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp)
|
rs2108474014
|
|
|
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
|
|
|
|
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
|
rs1232970567
|
|
|
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=)
|
rs759359909
|
|
|
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)
|
rs1553868919
|
|
|
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)
|
rs119103215
|
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
|
NM_020166.5(MCCC1):c.1317G>A (p.Val439=)
|
rs1713855580
|
|
|
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
|
|
|
|
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
|
|
|
|
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter)
|
rs1453886049
|
|
|
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)
|
rs546480708
|
|
|
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser)
|
rs546480708
|
|
|
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=)
|
rs1345111200
|
|
|
NM_020166.5(MCCC1):c.136+18T>A
|
|
|
|
NM_020166.5(MCCC1):c.136+18T>G
|
|
|
|
NM_020166.5(MCCC1):c.136+8C>G
|
|
|
|
NM_020166.5(MCCC1):c.136+9A>G
|
|
|
|
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
|
|
|
|
NM_020166.5(MCCC1):c.137-10T>G
|
rs1560281403
|
|
|
NM_020166.5(MCCC1):c.137-15T>C
|
|
|
|
NM_020166.5(MCCC1):c.137-18dup
|
|
|
|
NM_020166.5(MCCC1):c.137-7T>A
|
|
|
|
NM_020166.5(MCCC1):c.1371G>A (p.Gln457=)
|
|
|
|
NM_020166.5(MCCC1):c.1377+16C>A
|
|
|
|
NM_020166.5(MCCC1):c.1377+2T>C
|
|
|
|
NM_020166.5(MCCC1):c.1377+6T>G
|
rs1369902442
|
|
|
NM_020166.5(MCCC1):c.1378-17G>A
|
|
|
|
NM_020166.5(MCCC1):c.1378-17G>C
|
|
|
|
NM_020166.5(MCCC1):c.1378-17del
|
|
|
|
NM_020166.5(MCCC1):c.1378-1G>T
|
rs2108470990
|
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
|
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val)
|
rs2108470950
|
|
|
NM_020166.5(MCCC1):c.138A>C (p.Gly46=)
|
rs2108566202
|
|
|
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
|
|
|
|
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
|
|
|
|
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
|
|
|
|
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=)
|
|
|
|
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)
|
|
|
|
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=)
|
rs2108470855
|
|
|
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=)
|
rs1560219940
|
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
|
|
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=)
|
rs565662458
|
|
|
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
|
|
|
|
NM_020166.5(MCCC1):c.1420T>C (p.Ser474Pro)
|
|
|
|
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn)
|
rs1560219885
|
|
|
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
|
|
|
|
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
|
rs1290771044
|
|
|
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=)
|
rs200216718
|
|
|
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
|
|
|
|
NM_020166.5(MCCC1):c.1452G>T (p.Val484=)
|
|
|
|
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=)
|
rs1351299439
|
|
|
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=)
|
|
|
|
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)
|
|
|
|
NM_020166.5(MCCC1):c.147T>C (p.Ile49=)
|
|
|
|
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
|
|
|
|
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=)
|
|
|
|
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
|
|
|
|
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
|
|
|
|
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
|
|
|
|
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
|
|
|
|
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
|
|
|
|
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=)
|
rs2108470530
|
|
|
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
|
|
|
|
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
|
|
|
|
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs)
|
rs1713693597
|
|
|
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=)
|
rs1713694212
|
|
|
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
|
|
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
|
NM_020166.5(MCCC1):c.156C>T (p.Val52=)
|
rs398124353
|
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
|
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
|
|
|
|
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)
|
|
|
|
NM_020166.5(MCCC1):c.1592A>G (p.His531Arg)
|
|
|
|
NM_020166.5(MCCC1):c.1594+10G>T
|
|
|
|
NM_020166.5(MCCC1):c.1594+12T>A
|
|
|
|
NM_020166.5(MCCC1):c.1594+12T>C
|
|
|
|
NM_020166.5(MCCC1):c.1594+1G>A
|
rs966900131
|
|
|
NM_020166.5(MCCC1):c.1594+3A>G
|
|
|
|
NM_020166.5(MCCC1):c.1594+9G>A
|
|
|
|
NM_020166.5(MCCC1):c.1595-1G>C
|
rs1337201010
|
|
|
NM_020166.5(MCCC1):c.1595-2A>G
|
rs1235781420
|
|
|
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=)
|
rs34749281
|
|
|
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
|
|
|
|
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
|
|
|
|
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
|
|
|
|
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
|
|
|
|
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter)
|
rs2108461735
|
|
|
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
|
|
|
|
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys)
|
rs774055789
|
|
|
NM_020166.5(MCCC1):c.165A>C (p.Ala55=)
|
|
|
|
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs)
|
|
|
|
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter)
|
|
|
|
NM_020166.5(MCCC1):c.1679del (p.Asn560fs)
|
|
|
|
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)
|
rs1394547323
|
|
|
NM_020166.5(MCCC1):c.1681+10G>A
|
|
|
|
NM_020166.5(MCCC1):c.1681+13T>C
|
|
|
|
NM_020166.5(MCCC1):c.1681+2dup
|
|
|
|
NM_020166.5(MCCC1):c.1681+7A>G
|
|
|
|
NM_020166.5(MCCC1):c.1681+9T>C
|
rs2108461619
|
|
|
NM_020166.5(MCCC1):c.1682-12T>C
|
|
|
|
NM_020166.5(MCCC1):c.1682-16C>T
|
|
|
|
NM_020166.5(MCCC1):c.1682-17dup
|
|
|
|
NM_020166.5(MCCC1):c.1682-6A>C
|
|
|
|
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=)
|
rs1577245424
|
|
|
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
|
|
|
|
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
|
|
|
|
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)
|
rs1311374961
|
|
|
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
|
|
|
|
NM_020166.5(MCCC1):c.1721dup (p.Tyr574Ter)
|
|
|
|
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter)
|
rs747015041
|
|
|
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
|
|
|
|
NM_020166.5(MCCC1):c.1730A>T (p.Gln577Leu)
|
|
|
|
NM_020166.5(MCCC1):c.1731+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.1731+1del
|
|
|
|
NM_020166.5(MCCC1):c.1731+7C>T
|
|
|
|
NM_020166.5(MCCC1):c.1732-13del
|
rs770181345
|
|
|
NM_020166.5(MCCC1):c.1732-18A>G
|
|
|
|
NM_020166.5(MCCC1):c.1732-1G>T
|
rs763877330
|
|
|
NM_020166.5(MCCC1):c.1732-4dup
|
|
|
|
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
|
|
|
|
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=)
|
rs2108441668
|
|
|
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=)
|
rs2108441635
|
|
|
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)
|
|
|
|
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
|
|
|
|
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
|
|
|
|
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
|
|
|
|
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)
|
rs2108441513
|
|
|
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
|
|
|
|
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=)
|
rs2108441478
|
|
|
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe)
|
rs1352360605
|
|
|
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs)
|
rs1553850609
|
|
|
NM_020166.5(MCCC1):c.1820G>A (p.Ser607Asn)
|
|
|
|
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=)
|
rs747354023
|
|
|
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)
|
|
|
|
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=)
|
rs2108441402
|
|
|
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln)
|
rs2108441391
|
|
|
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)
|
|
|
|
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs)
|
rs2108441358
|
|
|
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)
|
rs1712230544
|
|
|
NM_020166.5(MCCC1):c.1869+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.1869+7T>A
|
rs2108441301
|
|
|
NM_020166.5(MCCC1):c.1869+9T>C
|
|
|
|
NM_020166.5(MCCC1):c.1870-18T>C
|
|
|
|
NM_020166.5(MCCC1):c.1870-18_1870-16dup
|
|
|
|
NM_020166.5(MCCC1):c.1870-2A>G
|
|
|
|
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)
|
|
|
|
NM_020166.5(MCCC1):c.1881T>C (p.Ile627=)
|
|
|
|
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys)
|
rs2108565998
|
|
|
NM_020166.5(MCCC1):c.1899C>T (p.Val633=)
|
|
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
|
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)
|
rs1311139055
|
|
|
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
|
|
|
|
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
|
|
|
|
NM_020166.5(MCCC1):c.1937del (p.Gln646fs)
|
rs1712031289
|
|
|
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
|
|
|
|
NM_020166.5(MCCC1):c.1973_1977+28del
|
rs776641008
|
|
|
NM_020166.5(MCCC1):c.1977+13C>T
|
|
|
|
NM_020166.5(MCCC1):c.1977+4dup
|
rs1488259395
|
|
|
NM_020166.5(MCCC1):c.1977+7A>G
|
rs2108437702
|
|
|
NM_020166.5(MCCC1):c.1977+9A>G
|
rs1712027129
|
|
|
NM_020166.5(MCCC1):c.1977+9A>T
|
|
|
|
NM_020166.5(MCCC1):c.1978-8del
|
rs747001867
|
|
|
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
|
|
|
|
NM_020166.5(MCCC1):c.1986C>T (p.Val662=)
|
|
|
|
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
|
|
|
|
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
|
|
|
|
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile)
|
rs2108565928
|
|
|
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
|
|
|
|
NM_020166.5(MCCC1):c.2014del (p.Asp672fs)
|
|
|
|
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
|
rs1354787415
|
|
|
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg)
|
rs1553849443
|
|
|
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
|
|
|
|
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
|
|
|
|
NM_020166.5(MCCC1):c.2047G>A (p.Glu683Lys)
|
|
|
|
NM_020166.5(MCCC1):c.2049+15A>C
|
|
|
|
NM_020166.5(MCCC1):c.2049+9A>G
|
rs1711715793
|
|
|
NM_020166.5(MCCC1):c.2050-15C>T
|
|
|
|
NM_020166.5(MCCC1):c.2050-19C>T
|
|
|
|
NM_020166.5(MCCC1):c.2050-20C>T
|
|
|
|
NM_020166.5(MCCC1):c.2050-2A>G
|
rs2108428908
|
|
|
NM_020166.5(MCCC1):c.2050-6_2050-5del
|
rs780558586
|
|
|
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg)
|
rs1553848994
|
|
|
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)
|
rs751755306
|
|
|
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=)
|
rs1203426656
|
|
|
NM_020166.5(MCCC1):c.207A>G (p.Lys69=)
|
rs1718434052
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
|
NM_020166.5(MCCC1):c.2091G>A (p.Val697=)
|
|
|
|
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
|
|
|
|
NM_020166.5(MCCC1):c.2115del (p.Asn706fs)
|
rs2108428693
|
|
|
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
|
rs1404350628
|
|
|
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala)
|
rs761521333
|
|
|
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)
|
|
|
|
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)
|
|
|
|
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=)
|
rs781286566
|
|
|
NM_020166.5(MCCC1):c.219A>C (p.Val73=)
|
rs1280526570
|
|
|
NM_020166.5(MCCC1):c.219A>G (p.Val73=)
|
|
|
|
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)
|
|
|
|
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs)
|
rs2108565864
|
|
|
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)
|
rs1718431677
|
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
|
NM_020166.5(MCCC1):c.231G>T (p.Ala77=)
|
rs144230304
|
|
|
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
|
rs1577363370
|
|
|
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
|
rs1485157465
|
|
|
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
|
|
|
|
NM_020166.5(MCCC1):c.251_252del (p.Arg84fs)
|
|
|
|
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro)
|
rs2108565751
|
|
|
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
|
|
|
|
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
|
|
|
|
NM_020166.5(MCCC1):c.264T>C (p.His88=)
|
|
|
|
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr)
|
rs1333663197
|
|
|
NM_020166.5(MCCC1):c.272del (p.Met91fs)
|
|
|
|
NM_020166.5(MCCC1):c.273+15T>C
|
|
|
|
NM_020166.5(MCCC1):c.273+1G>C
|
|
|
|
NM_020166.5(MCCC1):c.273+4T>C
|
rs949646980
|
|
|
NM_020166.5(MCCC1):c.273+5G>A
|
|
|
|
NM_020166.5(MCCC1):c.274-18G>A
|
|
|
|
NM_020166.5(MCCC1):c.274-20A>G
|
|
|
|
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
|
rs1717925328
|
|
|
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
|
|
|
|
NM_020166.5(MCCC1):c.286T>C (p.Tyr96His)
|
|
|
|
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
|
|
|
|
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg)
|
rs375244642
|
|
|
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
|
|
|
|
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)
|
rs776254500
|
|
|
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
|
|
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
|
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
|
|
|
|
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)
|
rs1177891822
|
|
|
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
|
rs144872258
|
|
|
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
|
rs1717919066
|
|
|
NM_020166.5(MCCC1):c.336A>G (p.Lys112=)
|
rs1204945524
|
|
|
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
|
|
|
|
NM_020166.5(MCCC1):c.342T>C (p.Ile114=)
|
rs2108553502
|
|
|
NM_020166.5(MCCC1):c.342T>G (p.Ile114Met)
|
|
|
|
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
|
rs754963220
|
|
|
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)
|
rs1307589698
|
|
|
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
|
|
|
|
NM_020166.5(MCCC1):c.369+12G>A
|
|
|
|
NM_020166.5(MCCC1):c.369+14A>G
|
|
|
|
NM_020166.5(MCCC1):c.369+2T>C
|
|
|
|
NM_020166.5(MCCC1):c.370-4C>A
|
|
|
|
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
|
|
|
|
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter)
|
rs761110034
|
|
|
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val)
|
rs2108528600
|
|
|
NM_020166.5(MCCC1):c.393del (p.Leu132fs)
|
|
|
|
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly)
|
rs2108528559
|
|
|
NM_020166.5(MCCC1):c.411A>G (p.Glu137=)
|
rs2108528534
|
|
|
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr)
|
rs1436217339
|
|
|
NM_020166.5(MCCC1):c.423T>G (p.Leu141=)
|
rs2108528517
|
|
|
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs)
|
rs1716766263
|
|
|
NM_020166.5(MCCC1):c.435del (p.Gly146fs)
|
rs1486240538
|
|
|
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
|
|
|
|
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
|
|
|
|
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer)
|
|
|
|
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp)
|
rs2108528467
|
|
|
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser)
|
rs1022408190
|
|
|
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
|
rs1182086058
|
|
|
NM_020166.5(MCCC1):c.462A>G (p.Pro154=)
|
rs1010978187
|
|
|
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
|
|
|
|
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln)
|
rs747747680
|
|
|
NM_020166.5(MCCC1):c.48del (p.Asn17fs)
|
|
|
|
NM_020166.5(MCCC1):c.491+10T>C
|
|
|
|
NM_020166.5(MCCC1):c.491+13A>G
|
|
|
|
NM_020166.5(MCCC1):c.491+14T>G
|
|
|
|
NM_020166.5(MCCC1):c.491+8T>C
|
|
|
|
NM_020166.5(MCCC1):c.492-11C>G
|
|
|
|
NM_020166.5(MCCC1):c.492-16C>A
|
|
|
|
NM_020166.5(MCCC1):c.492-3A>G
|
|
|
|
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
|
|
|
|
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe)
|
rs2108526692
|
|
|
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
|
|
|
|
NM_020166.5(MCCC1):c.519T>C (p.Ala173=)
|
rs2108526654
|
|
|
NM_020166.5(MCCC1):c.51C>T (p.Asn17=)
|
rs557695078
|
|
|
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
|
rs1716671130
|
|
|
NM_020166.5(MCCC1):c.532del (p.Val178fs)
|
|
|
|
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)
|
rs2108526606
|
|
|
NM_020166.5(MCCC1):c.556del (p.Gln186fs)
|
rs2108526541
|
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
|
NM_020166.5(MCCC1):c.561A>G (p.Ser187=)
|
|
|
|
NM_020166.5(MCCC1):c.582C>T (p.His194=)
|
|
|
|
NM_020166.5(MCCC1):c.588G>A (p.Arg196=)
|
rs1716663064
|
|
|
NM_020166.5(MCCC1):c.59A>G (p.His20Arg)
|
rs751663186
|
|
|
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)
|
|
|
|
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
|
|
|
|
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
|
rs1406515651
|
|
|
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs)
|
|
|
|
NM_020166.5(MCCC1):c.622C>A (p.Arg208=)
|
rs759345755
|
|
|
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
|
|
|
|
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
|
|
|
|
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
|
rs186209189
|
|
|
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
|
|
|
|
NM_020166.5(MCCC1):c.635del (p.Gly212fs)
|
rs2108526355
|
|
|
NM_020166.5(MCCC1):c.639+11G>T
|
rs1716653818
|
|
|
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA
|
rs1716653595
|
|
|
NM_020166.5(MCCC1):c.639+16C>G
|
|
|
|
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT
|
|
|
|
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_020166.5(MCCC1):c.639+6A>T
|
|
|
|
NM_020166.5(MCCC1):c.639+7T>G
|
|
|
|
NM_020166.5(MCCC1):c.639+8T>G
|
|
|
|
NM_020166.5(MCCC1):c.639+9G>A
|
|
|
|
NM_020166.5(MCCC1):c.640-10T>C
|
rs1011275855
|
|
|
NM_020166.5(MCCC1):c.640-16A>G
|
|
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
|
NM_020166.5(MCCC1):c.640-5C>A
|
rs892786406
|
|
|
NM_020166.5(MCCC1):c.640-7C>G
|
rs1414857427
|
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
|
NM_020166.5(MCCC1):c.648G>A (p.Arg216=)
|
rs2108526043
|
|
|
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
|
|
|
|
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs)
|
|
|
|
NM_020166.5(MCCC1):c.660A>C (p.Ser220=)
|
rs2108526023
|
|
|
NM_020166.5(MCCC1):c.66C>G (p.Leu22=)
|
rs750778690
|
|
|
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
|
rs779412317
|
|
|
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)
|
rs1553862845
|
|
|
NM_020166.5(MCCC1):c.678A>G (p.Glu226=)
|
rs1577328315
|
|
|
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs)
|
rs1716637067
|
|
|
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
|
|
|
|
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
|
|
|
|
NM_020166.5(MCCC1):c.693A>G (p.Ala231=)
|
|
|
|
NM_020166.5(MCCC1):c.696G>A (p.Arg232=)
|
|
|
|
NM_020166.5(MCCC1):c.699A>G (p.Arg233=)
|
|
|
|
NM_020166.5(MCCC1):c.69G>A (p.Pro23=)
|
rs567116244
|
|
|
NM_020166.5(MCCC1):c.69G>C (p.Pro23=)
|
rs567116244
|
|
|
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys)
|
rs2108525897
|
|
|
NM_020166.5(MCCC1):c.704del (p.Ala235fs)
|
rs1577328234
|
|
|
NM_020166.5(MCCC1):c.729T>C (p.Ala243=)
|
rs886058208
|
|
|
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
|
rs369227006
|
|
|
NM_020166.5(MCCC1):c.738C>A (p.Ile246=)
|
rs766095348
|
|
|
NM_020166.5(MCCC1):c.738C>T (p.Ile246=)
|
rs766095348
|
|
|
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer)
|
rs1560256569
|
|
|
NM_020166.5(MCCC1):c.75G>A (p.Leu25=)
|
|
|
|
NM_020166.5(MCCC1):c.761+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.761+2T>C
|
|
|
|
NM_020166.5(MCCC1):c.761+9G>T
|
|
|
|
NM_020166.5(MCCC1):c.762-13del
|
|
|
|
NM_020166.5(MCCC1):c.762-2A>G
|
|
|
|
NM_020166.5(MCCC1):c.762-2_762-1del
|
rs2108505736
|
|
|
NM_020166.5(MCCC1):c.762-9T>C
|
rs2108505742
|
|
|
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
|
rs149389595
|
|
|
NM_020166.5(MCCC1):c.763C>A (p.His255Asn)
|
rs952365421
|
|
|
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
|
|
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
|
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
|
|
|
|
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
|
|
|
|
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
|
|
|
|
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
|
|
|
|
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala)
|
rs1315920706
|
|
|
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
|
|
|
|
NM_020166.5(MCCC1):c.81G>A (p.Leu27=)
|
rs1439662567
|
|
|
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
|
|
|
|
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
|
|
|
|
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer)
|
|
|
|
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly)
|
rs1715498129
|
|
|
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn)
|
rs2108505562
|
|
|
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
|
rs1715495987
|
|
|
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
|
|
|
|
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
|
rs1267237320
|
|
|
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
|
|
|
|
NM_020166.5(MCCC1):c.867C>A (p.Ala289=)
|
rs2108505485
|
|
|
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
|
|
|
|
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu)
|
rs201041864
|
|
|
NM_020166.5(MCCC1):c.873+16A>G
|
|
|
|
NM_020166.5(MCCC1):c.873+17G>C
|
|
|
|
NM_020166.5(MCCC1):c.873+17G>T
|
|
|
|
NM_020166.5(MCCC1):c.873+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.873_873+3dup
|
rs2108505458
|
|
|
NM_020166.5(MCCC1):c.874-13A>T
|
|
|
|
NM_020166.5(MCCC1):c.874-15A>G
|
|
|
|
NM_020166.5(MCCC1):c.874-15A>T
|
|
|
|
NM_020166.5(MCCC1):c.874-18T>A
|
|
|
|
NM_020166.5(MCCC1):c.874-1G>T
|
|
|
|
NM_020166.5(MCCC1):c.874-4A>G
|
|
|
|
NM_020166.5(MCCC1):c.874-6del
|
rs755494348
|
|
|
NM_020166.5(MCCC1):c.874-6dup
|
rs755494348
|
|
|
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
|
|
|
|
NM_020166.5(MCCC1):c.87G>A (p.Pro29=)
|
rs1383349919
|
|
|
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
|
|
|
|
NM_020166.5(MCCC1):c.881_891del (p.Ile294fs)
|
|
|
|
NM_020166.5(MCCC1):c.89+12G>A
|
|
|
|
NM_020166.5(MCCC1):c.89+16A>G
|
|
|
|
NM_020166.5(MCCC1):c.89+17T>C
|
|
|
|
NM_020166.5(MCCC1):c.89+1G>A
|
rs771730236
|
|
|
NM_020166.5(MCCC1):c.89+8G>A
|
|
|
|
NM_020166.5(MCCC1):c.897A>G (p.Arg299=)
|
|
|
|
NM_020166.5(MCCC1):c.90-12T>C
|
|
|
|
NM_020166.5(MCCC1):c.90-19T>G
|
|
|
|
NM_020166.5(MCCC1):c.90-1G>A
|
|
|
|
NM_020166.5(MCCC1):c.90-1G>C
|
rs1718608300
|
|
|
NM_020166.5(MCCC1):c.90-5T>C
|
|
|
|
NM_020166.5(MCCC1):c.90-7G>A
|
rs1490296486
|
|
|
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser)
|
rs1191290699
|
|
|
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr)
|
rs1715029507
|
|
|
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
|
|
|
|
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
|
|
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
|
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
|
|
|
|
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
|
rs1577295874
|
|
|
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val)
|
rs1577295874
|
|
|
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs)
|
rs2108496973
|
|
|
NM_020166.5(MCCC1):c.955+10G>T
|
rs1004658113
|
|
|
NM_020166.5(MCCC1):c.955+16C>T
|
|
|
|
NM_020166.5(MCCC1):c.955+1G>A
|
rs1340827377
|
|
|
NM_020166.5(MCCC1):c.955+1G>T
|
|
|
|
NM_020166.5(MCCC1):c.955+6T>C
|
|
|
|
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
|
|
|
|
NM_020166.5(MCCC1):c.956-10dup
|
rs747546545
|
|
|
NM_020166.5(MCCC1):c.956-15T>C
|
|
|
|
NM_020166.5(MCCC1):c.956-19A>G
|
|
|
|
NM_020166.5(MCCC1):c.956-7C>G
|
|
|
|
NM_020166.5(MCCC1):c.956-8C>T
|
rs1577284365
|
|
|
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu)
|
rs2108486818
|
|
|
NM_020166.5(MCCC1):c.960del (p.Val321fs)
|
|
|
|
NM_020166.5(MCCC1):c.969T>C (p.Phe323=)
|
rs2108486797
|
|
|
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
|
|
|
|
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
|
|
|
|
NM_020166.5(MCCC1):c.987_988del (p.His329fs)
|
rs1553856095
|
|
|
NM_020166.5(MCCC1):c.99G>A (p.Val33=)
|
rs1718607448
|
|
|
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
|
|
|
|
NM_022132.5(MCCC2):c.1000-17G>A
|
|
|
|
NM_022132.5(MCCC2):c.1000-2A>G
|
rs2112453728
|
|
|
NM_022132.5(MCCC2):c.1008T>C (p.Ala336=)
|
|
|
|
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
|
rs980603424
|
|
|
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=)
|
rs760703487
|
|
|
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
|
|
|
|
NM_022132.5(MCCC2):c.1072+12A>T
|
|
|
|
NM_022132.5(MCCC2):c.1072+14G>A
|
|
|
|
NM_022132.5(MCCC2):c.1072+17T>C
|
|
|
|
NM_022132.5(MCCC2):c.1072+1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1072+9G>A
|
rs779091338
|
|
|
NM_022132.5(MCCC2):c.1073-9T>C
|
|
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
|
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln)
|
rs991211481
|
|
|
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1103del (p.Gly368fs)
|
rs756218448
|
|
|
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=)
|
|
|
|
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
|
|
|
|
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)
|
|
|
|
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=)
|
rs758139797
|
|
|
NM_022132.5(MCCC2):c.1128_1129del (p.Phe377_Ser378insTer)
|
|
|
|
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=)
|
|
|
|
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
|
|
|
|
NM_022132.5(MCCC2):c.1149+1G>A
|
rs2112460011
|
|
|
NM_022132.5(MCCC2):c.1149+1G>T
|
rs2112460011
|
|
|
NM_022132.5(MCCC2):c.114C>T (p.Gly38=)
|
rs750638270
|
|
|
NM_022132.5(MCCC2):c.1150-17A>G
|
|
|
|
NM_022132.5(MCCC2):c.1150-17_1150-16del
|
rs904388490
|
|
|
NM_022132.5(MCCC2):c.1150-1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1150-1G>C
|
|
|
|
NM_022132.5(MCCC2):c.1150-4A>G
|
|
|
|
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
|
|
|
|
NM_022132.5(MCCC2):c.1165C>A (p.Gln389Lys)
|
|
|
|
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
|
rs781478040
|
|
|
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=)
|
rs2112463698
|
|
|
NM_022132.5(MCCC2):c.117T>C (p.Ser39=)
|
|
|
|
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile)
|
rs531994517
|
|
|
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala)
|
rs2112463755
|
|
|
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
|
|
|
|
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=)
|
rs2112463773
|
|
|
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=)
|
|
|
|
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=)
|
|
|
|
NM_022132.5(MCCC2):c.1203T>G (p.Leu401=)
|
|
|
|
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1216+12G>T
|
|
|
|
NM_022132.5(MCCC2):c.1216+19del
|
|
|
|
NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
|
NM_022132.5(MCCC2):c.1217-10T>G
|
rs2112467673
|
|
|
NM_022132.5(MCCC2):c.1217-16C>G
|
|
|
|
NM_022132.5(MCCC2):c.1217-16C>T
|
|
|
|
NM_022132.5(MCCC2):c.1217-19T>C
|
|
|
|
NM_022132.5(MCCC2):c.1217-6_1217-3del
|
|
|
|
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1234del (p.Glu412fs)
|
|
|
|
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
|
rs371587906
|
|
|
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
|
rs371587906
|
|
|
NM_022132.5(MCCC2):c.123C>T (p.Leu41=)
|
|
|
|
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
|
rs1580262373
|
|
|
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp)
|
|
|
|
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=)
|
rs1747359129
|
|
|
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val)
|
rs766591766
|
|
|
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile)
|
rs1747359594
|
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
|
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=)
|
rs752877391
|
|
|
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu)
|
rs2112467816
|
|
|
NM_022132.5(MCCC2):c.129+10G>A
|
|
|
|
NM_022132.5(MCCC2):c.129+16C>T
|
|
|
|
NM_022132.5(MCCC2):c.129+17G>C
|
|
|
|
NM_022132.5(MCCC2):c.129+1G>T
|
rs1744812773
|
|
|
NM_022132.5(MCCC2):c.129+7T>C
|
|
|
|
NM_022132.5(MCCC2):c.129+8G>C
|
|
|
|
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
|
rs1580262388
|
|
|
NM_022132.5(MCCC2):c.130-16T>C
|
|
|
|
NM_022132.5(MCCC2):c.130-20C>A
|
|
|
|
NM_022132.5(MCCC2):c.130-2A>G
|
|
|
|
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs)
|
rs2112467862
|
|
|
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
|
|
|
|
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=)
|
|
|
|
NM_022132.5(MCCC2):c.1337G>A (p.Gly446Glu)
|
|
|
|
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=)
|
|
|
|
NM_022132.5(MCCC2):c.1350T>A (p.Tyr450Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro)
|
|
|
|
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=)
|
rs10064079
|
|
|
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1373+16T>G
|
|
|
|
NM_022132.5(MCCC2):c.1373+2T>G
|
rs2112468012
|
|
|
NM_022132.5(MCCC2):c.1374-15C>T
|
|
|
|
NM_022132.5(MCCC2):c.1437C>G (p.Ala479=)
|
|
|
|
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
|
rs201060452
|
|
|
NM_022132.5(MCCC2):c.1441G>T (p.Val481Leu)
|
|
|
|
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro)
|
rs1554138549
|
|
|
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=)
|
|
|
|
NM_022132.5(MCCC2):c.145A>G (p.Met49Val)
|
|
|
|
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=)
|
rs758144158
|
|
|
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1486C>T (p.Gln496Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1488+11T>C
|
|
|
|
NM_022132.5(MCCC2):c.1488+15C>T
|
|
|
|
NM_022132.5(MCCC2):c.1488+18T>G
|
|
|
|
NM_022132.5(MCCC2):c.1488+1G>A
|
rs2112469361
|
|
|
NM_022132.5(MCCC2):c.1488+2T>A
|
|
|
|
NM_022132.5(MCCC2):c.1488+8T>A
|
|
|
|
NM_022132.5(MCCC2):c.1488+9C>G
|
rs1561848361
|
|
|
NM_022132.5(MCCC2):c.1489-10T>C
|
|
|
|
NM_022132.5(MCCC2):c.1489-16G>A
|
rs1747467303
|
|
|
NM_022132.5(MCCC2):c.1489-3T>A
|
|
|
|
NM_022132.5(MCCC2):c.1489-4T>C
|
rs1747467560
|
|
|
NM_022132.5(MCCC2):c.1489-5T>C
|
|
|
|
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
|
|
|
|
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=)
|
rs1580334193
|
|
|
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
|
|
|
|
NM_022132.5(MCCC2):c.1537T>C (p.Phe513Leu)
|
|
|
|
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=)
|
rs140220101
|
|
|
NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG (p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu)
|
|
|
|
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=)
|
rs1315911728
|
|
|
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)
|
rs1747471598
|
|
|
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)
|
rs150327768
|
|
|
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
|
rs1747472048
|
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
|
NM_022132.5(MCCC2):c.156A>G (p.Leu52=)
|
|
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro)
|
rs774241918
|
|
|
NM_022132.5(MCCC2):c.1571C>T (p.Ala524Val)
|
|
|
|
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=)
|
rs886060738
|
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
|
NM_022132.5(MCCC2):c.1574+15A>G
|
|
|
|
NM_022132.5(MCCC2):c.1574+1G>T
|
rs730880265
|
|
|
NM_022132.5(MCCC2):c.1574+3G>T
|
|
|
|
NM_022132.5(MCCC2):c.1574+5G>T
|
rs781483923
|
|
|
NM_022132.5(MCCC2):c.1574+7dup
|
|
|
|
NM_022132.5(MCCC2):c.1575-10C>A
|
|
|
|
NM_022132.5(MCCC2):c.1575-10C>T
|
rs1303395410
|
|
|
NM_022132.5(MCCC2):c.1575-15T>C
|
|
|
|
NM_022132.5(MCCC2):c.1575-15_1575-14del
|
|
|
|
NM_022132.5(MCCC2):c.1575-5G>T
|
rs924068629
|
|
|
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe)
|
rs2112478243
|
|
|
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=)
|
rs2112478257
|
|
|
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=)
|
|
|
|
NM_022132.5(MCCC2):c.1629C>G (p.Leu543=)
|
|
|
|
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=)
|
rs764970690
|
|
|
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
|
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
|
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=)
|
|
|
|
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)
|
rs758806872
|
|
|
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=)
|
rs781648337
|
|
|
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs)
|
|
|
|
NM_022132.5(MCCC2):c.1667C>A (p.Thr556Asn)
|
|
|
|
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile)
|
rs1049171546
|
|
|
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=)
|
rs1200111967
|
|
|
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu)
|
rs2112478390
|
|
|
NM_022132.5(MCCC2):c.1674del (p.Phe558fs)
|
rs1747594910
|
|
|
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp)
|
|
|
|
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
|
|
|
|
NM_022132.5(MCCC2):c.175C>A (p.Arg59=)
|
|
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
|
|
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)
|
rs752593298
|
|
|
NM_022132.5(MCCC2):c.183G>A (p.Glu61=)
|
|
|
|
NM_022132.5(MCCC2):c.185A>G (p.His62Arg)
|
rs1745040815
|
|
|
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)
|
rs796051989
|
|
|
NM_022132.5(MCCC2):c.196+11C>G
|
|
|
|
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA
|
|
|
|
NM_022132.5(MCCC2):c.196+19C>A
|
|
|
|
NM_022132.5(MCCC2):c.196+3A>G
|
rs751519858
|
|
|
NM_022132.5(MCCC2):c.197-7A>G
|
|
|
|
NM_022132.5(MCCC2):c.197-9C>G
|
rs2112293394
|
|
|
NM_022132.5(MCCC2):c.1A>G (p.Met1Val)
|
|
|
|
NM_022132.5(MCCC2):c.210A>G (p.Lys70=)
|
rs2112293469
|
|
|
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)
|
rs147903984
|
|
|
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
|
rs140027063
|
|
|
NM_022132.5(MCCC2):c.231_232del (p.Gly79fs)
|
|
|
|
NM_022132.5(MCCC2):c.237A>G (p.Gly79=)
|
rs2112293709
|
|
|
NM_022132.5(MCCC2):c.242dup (p.Leu82fs)
|
|
|
|
NM_022132.5(MCCC2):c.244T>C (p.Leu82=)
|
rs2112293727
|
|
|
NM_022132.5(MCCC2):c.246G>A (p.Leu82=)
|
rs1427801007
|
|
|
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg)
|
rs1414470105
|
|
|
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
|
rs1745187009
|
|
|
NM_022132.5(MCCC2):c.252A>G (p.Arg84=)
|
rs1295786119
|
|
|
NM_022132.5(MCCC2):c.264C>T (p.Asp88=)
|
|
|
|
NM_022132.5(MCCC2):c.270C>G (p.Leu90=)
|
|
|
|
NM_022132.5(MCCC2):c.279A>T (p.Pro93=)
|
rs1554133471
|
|
|
NM_022132.5(MCCC2):c.281+10T>G
|
|
|
|
NM_022132.5(MCCC2):c.281+14C>T
|
|
|
|
NM_022132.5(MCCC2):c.281+1G>T
|
rs1580273474
|
|
|
NM_022132.5(MCCC2):c.282-15C>T
|
|
|
|
NM_022132.5(MCCC2):c.282-1G>C
|
|
|
|
NM_022132.5(MCCC2):c.282-9T>C
|
rs1464131809
|
|
|
NM_022132.5(MCCC2):c.282-9_285del
|
rs2112308599
|
|
|
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
|
rs770208071
|
|
|
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys)
|
rs119103219
|
|
|
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter)
|
rs2112308910
|
|
|
NM_022132.5(MCCC2):c.321G>A (p.Gln107=)
|
rs2112308941
|
|
|
NM_022132.5(MCCC2):c.324A>G (p.Leu108=)
|
rs2112308948
|
|
|
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
|
|
|
|
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
|
|
|
|
NM_022132.5(MCCC2):c.342G>A (p.Val114=)
|
|
|
|
NM_022132.5(MCCC2):c.342del (p.Pro115fs)
|
rs2112309156
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
|
NM_022132.5(MCCC2):c.354C>G (p.Gly118=)
|
|
|
|
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
|
|
|
|
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter)
|
rs398124372
|
|
|
NM_022132.5(MCCC2):c.384-10T>C
|
|
|
|
NM_022132.5(MCCC2):c.384-19T>A
|
|
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
|
NM_022132.5(MCCC2):c.384-8C>G
|
rs2112319784
|
|
|
NM_022132.5(MCCC2):c.384-9G>A
|
rs2112319771
|
|
|
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
|
|
|
|
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
|
|
|
|
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
|
|
|
|
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
|
|
|
|
NM_022132.5(MCCC2):c.423A>G (p.Lys141=)
|
|
|
|
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
|
rs1468231692
|
|
|
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp)
|
rs1745481314
|
|
|
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=)
|
|
|
|
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys)
|
rs2112320371
|
|
|
NM_022132.5(MCCC2):c.449_450del (p.Val150fs)
|
rs1554134061
|
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
|
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
|
|
|
|
NM_022132.5(MCCC2):c.45C>T (p.Ala15=)
|
|
|
|
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val)
|
|
|
|
NM_022132.5(MCCC2):c.468C>T (p.Ala156=)
|
|
|
|
NM_022132.5(MCCC2):c.477T>C (p.Ile159=)
|
|
|
|
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly)
|
rs2112320728
|
|
|
NM_022132.5(MCCC2):c.489C>T (p.Asn163=)
|
rs774803841
|
|
|
NM_022132.5(MCCC2):c.504C>A (p.Ile168=)
|
|
|
|
NM_022132.5(MCCC2):c.511+10del
|
|
|
|
NM_022132.5(MCCC2):c.511+11A>C
|
|
|
|
NM_022132.5(MCCC2):c.511+13A>T
|
|
|
|
NM_022132.5(MCCC2):c.511+14G>T
|
|
|
|
NM_022132.5(MCCC2):c.511+1G>A
|
rs1165990855
|
|
|
NM_022132.5(MCCC2):c.511+1G>T
|
|
|
|
NM_022132.5(MCCC2):c.511+20A>G
|
|
|
|
NM_022132.5(MCCC2):c.512-14T>A
|
rs765487963
|
|
|
NM_022132.5(MCCC2):c.512-19T>G
|
|
|
|
NM_022132.5(MCCC2):c.512-1G>A
|
rs1282502867
|
|
|
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)
|
rs587776533
|
|
|
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp)
|
rs752866557
|
|
|
NM_022132.5(MCCC2):c.519G>A (p.Ser173=)
|
|
|
|
NM_022132.5(MCCC2):c.528A>T (p.Ala176=)
|
rs753733837
|
|
|
NM_022132.5(MCCC2):c.529del (p.Tyr177fs)
|
|
|
|
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)
|
|
|
|
NM_022132.5(MCCC2):c.533T>G (p.Leu178Ter)
|
rs2112328709
|
|
|
NM_022132.5(MCCC2):c.537T>A (p.Pro179=)
|
rs1275219211
|
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
|
NM_022132.5(MCCC2):c.540A>G (p.Arg180=)
|
rs2112328806
|
|
|
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
|
|
|
|
NM_022132.5(MCCC2):c.54C>G (p.Ala18=)
|
rs747327321
|
|
|
NM_022132.5(MCCC2):c.54C>T (p.Ala18=)
|
|
|
|
NM_022132.5(MCCC2):c.552G>A (p.Val184=)
|
|
|
|
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
|
|
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
|
NM_022132.5(MCCC2):c.557del (p.Pro186fs)
|
rs1745582317
|
|
|
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
|
|
|
|
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu)
|
rs575600077
|
|
|
NM_022132.5(MCCC2):c.567C>T (p.Asp189=)
|
|
|
|
NM_022132.5(MCCC2):c.57G>C (p.Gly19=)
|
|
|
|
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
|
rs1190325113
|
|
|
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
|
|
|
|
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His)
|
rs2112329234
|
|
|
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val)
|
rs2112329325
|
|
|
NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)
|
|
|
|
NM_022132.5(MCCC2):c.60G>C (p.Pro20=)
|
|
|
|
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr)
|
rs1745586663
|
|
|
NM_022132.5(MCCC2):c.618T>C (p.Ile206=)
|
rs2112329401
|
|
|
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser)
|
rs2112329415
|
|
|
NM_022132.5(MCCC2):c.624+10C>A
|
rs2112329449
|
|
|
NM_022132.5(MCCC2):c.624+15A>C
|
|
|
|
NM_022132.5(MCCC2):c.624+15A>G
|
|
|
|
NM_022132.5(MCCC2):c.625-15G>A
|
|
|
|
NM_022132.5(MCCC2):c.625-18C>T
|
|
|
|
NM_022132.5(MCCC2):c.625-19T>C
|
|
|
|
NM_022132.5(MCCC2):c.628G>A (p.Ala210Thr)
|
|
|
|
NM_022132.5(MCCC2):c.630A>C (p.Ala210=)
|
|
|
|
NM_022132.5(MCCC2):c.630A>G (p.Ala210=)
|
rs760020328
|
|
|
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
|
|
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
|
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser)
|
|
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
|
NM_022132.5(MCCC2):c.663C>A (p.Ala221=)
|
|
|
|
NM_022132.5(MCCC2):c.663C>T (p.Ala221=)
|
rs978623277
|
|
|
NM_022132.5(MCCC2):c.663del (p.Tyr222fs)
|
|
|
|
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
|
|
|
|
NM_022132.5(MCCC2):c.671C>G (p.Pro224Arg)
|
|
|
|
NM_022132.5(MCCC2):c.672T>C (p.Pro224=)
|
rs1337800475
|
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
|
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)
|
|
|
|
NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)
|
|
|
|
NM_022132.5(MCCC2):c.690C>T (p.Asn230=)
|
|
|
|
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met)
|
rs991996366
|
|
|
NM_022132.5(MCCC2):c.699A>G (p.Val233=)
|
rs2112412515
|
|
|
NM_022132.5(MCCC2):c.69del (p.His24fs)
|
|
|
|
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
|
|
|
|
NM_022132.5(MCCC2):c.708G>A (p.Gln236=)
|
rs2112412564
|
|
|
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg)
|
rs781559418
|
|
|
NM_022132.5(MCCC2):c.70C>G (p.His24Asp)
|
|
|
|
NM_022132.5(MCCC2):c.711T>C (p.Gly237=)
|
|
|
|
NM_022132.5(MCCC2):c.714C>T (p.Thr238=)
|
rs200849501
|
|
|
NM_022132.5(MCCC2):c.720C>T (p.Phe240=)
|
|
|
|
NM_022132.5(MCCC2):c.726A>G (p.Ala242=)
|
rs2112412678
|
|
|
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala)
|
rs770351523
|
|
|
NM_022132.5(MCCC2):c.729A>C (p.Gly243=)
|
rs535377555
|
|
|
NM_022132.5(MCCC2):c.735del (p.Leu246fs)
|
|
|
|
NM_022132.5(MCCC2):c.735dup (p.Val247fs)
|
rs770769655
|
|
|
NM_022132.5(MCCC2):c.738+11A>G
|
|
|
|
NM_022132.5(MCCC2):c.738+17G>A
|
|
|
|
NM_022132.5(MCCC2):c.738+2T>G
|
|
|
|
NM_022132.5(MCCC2):c.738+2dup
|
rs2112412775
|
|
|
NM_022132.5(MCCC2):c.738+6A>G
|
|
|
|
NM_022132.5(MCCC2):c.738+8C>A
|
rs1746541390
|
|
|
NM_022132.5(MCCC2):c.739-11C>G
|
|
|
|
NM_022132.5(MCCC2):c.739-11C>T
|
|
|
|
NM_022132.5(MCCC2):c.739-2A>G
|
rs2112427637
|
|
|
NM_022132.5(MCCC2):c.739-4G>T
|
|
|
|
NM_022132.5(MCCC2):c.739-7G>C
|
rs765082065
|
|
|
NM_022132.5(MCCC2):c.739-8T>C
|
|
|
|
NM_022132.5(MCCC2):c.739-9T>C
|
|
|
|
NM_022132.5(MCCC2):c.739del
|
rs1463802125
|
|
|
NM_022132.5(MCCC2):c.747G>A (p.Ala249=)
|
|
|
|
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
|
|
|
|
NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs)
|
|
|
|
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
|
|
|
|
NM_022132.5(MCCC2):c.765A>G (p.Val255=)
|
rs1405840387
|
|
|
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs)
|
rs2112251301
|
|
|
NM_022132.5(MCCC2):c.786T>G (p.Gly262=)
|
rs1041557611
|
|
|
NM_022132.5(MCCC2):c.789del (p.Asp264fs)
|
|
|
|
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
|
|
|
|
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro)
|
rs1746740255
|
|
|
NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
|
|
|
|
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly)
|
rs756477001
|
|
|
NM_022132.5(MCCC2):c.803+12A>C
|
|
|
|
NM_022132.5(MCCC2):c.803+13T>C
|
|
|
|
NM_022132.5(MCCC2):c.803+14G>T
|
|
|
|
NM_022132.5(MCCC2):c.803+6A>G
|
|
|
|
NM_022132.5(MCCC2):c.803+7C>T
|
rs1561840847
|
|
|
NM_022132.5(MCCC2):c.803+9_803+10del
|
rs1561840849
|
|
|
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr)
|
rs119103223
|
|
|
NM_022132.5(MCCC2):c.804-4G>A
|
|
|
|
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg)
|
rs2112437351
|
|
|
NM_022132.5(MCCC2):c.822C>T (p.Asp274=)
|
rs2112437391
|
|
|
NM_022132.5(MCCC2):c.823del (p.His275fs)
|
rs2112437401
|
|
|
NM_022132.5(MCCC2):c.861T>A (p.Thr287=)
|
|
|
|
NM_022132.5(MCCC2):c.861T>C (p.Thr287=)
|
rs1171847854
|
|
|
NM_022132.5(MCCC2):c.861T>G (p.Thr287=)
|
|
|
|
NM_022132.5(MCCC2):c.876G>A (p.Arg292=)
|
|
|
|
NM_022132.5(MCCC2):c.879T>C (p.Asn293=)
|
rs753100774
|
|
|
NM_022132.5(MCCC2):c.882A>G (p.Leu294=)
|
|
|
|
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=)
|
|
|
|
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
|
rs1580319814
|
|
|
NM_022132.5(MCCC2):c.898T>C (p.Leu300=)
|
rs1746869158
|
|
|
NM_022132.5(MCCC2):c.903+13T>C
|
|
|
|
NM_022132.5(MCCC2):c.903+19T>C
|
|
|
|
NM_022132.5(MCCC2):c.903+1G>T
|
rs2112437820
|
|
|
NM_022132.5(MCCC2):c.903+20A>T
|
|
|
|
NM_022132.5(MCCC2):c.903+2T>G
|
|
|
|
NM_022132.5(MCCC2):c.903+4A>T
|
|
|
|
NM_022132.5(MCCC2):c.904-10A>G
|
rs1746872931
|
|
|
NM_022132.5(MCCC2):c.904-15T>C
|
|
|
|
NM_022132.5(MCCC2):c.904-16A>G
|
|
|
|
NM_022132.5(MCCC2):c.904-19A>G
|
|
|
|
NM_022132.5(MCCC2):c.904-2A>T
|
|
|
|
NM_022132.5(MCCC2):c.90G>A (p.Ser30=)
|
rs559384926
|
|
|
NM_022132.5(MCCC2):c.90G>C (p.Ser30=)
|
rs559384926
|
|
|
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
|
rs119103221
|
|
|
NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
|
|
|
|
NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
|
|
|
|
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
|
NM_022132.5(MCCC2):c.960A>C (p.Ile320=)
|
rs1746875605
|
|
|
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
|
|
|
|
NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
|
|
|
|
NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
|
|
|
|
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs)
|
rs2112438432
|
|
|
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe)
|
rs2112438464
|
|
|
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser)
|
rs2112438533
|
|
|
NM_022132.5(MCCC2):c.987T>C (p.Phe329=)
|
rs2112438541
|
|
|
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter)
|
rs1554137532
|
|
|
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile)
|
rs2112251506
|
|
|
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp)
|
rs1487531101
|
|
|
NM_022132.5(MCCC2):c.9C>A (p.Ala3=)
|
|
|
|
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
|
|
|
|
NM_025136.4(OPA3):c.109T>C (p.Phe37Leu)
|
|
|
|
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
|
|
|
|
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
|
|
|
|
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
|
|
|
|
NM_025136.4(OPA3):c.119A>G (p.Tyr40Cys)
|
|
|
|
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
|
|
|
|
NM_025136.4(OPA3):c.122T>G (p.Ile41Ser)
|
|
|
|
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
|
|
|
|
NM_025136.4(OPA3):c.127C>G (p.Leu43Val)
|
rs2122529195
|
|
|
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
|
|
|
|
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu)
|
rs2122529178
|
|
|
NM_025136.4(OPA3):c.132G>C (p.Pro44=)
|
|
|
|
NM_025136.4(OPA3):c.135G>A (p.Pro45=)
|
rs553414785
|
|
|
NM_025136.4(OPA3):c.135G>C (p.Pro45=)
|
|
|
|
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_025136.4(OPA3):c.140A>G (p.Gln47Arg)
|
|
|
|
NM_025136.4(OPA3):c.142+10A>C
|
rs539476253
|
|
|
NM_025136.4(OPA3):c.142+11C>T
|
|
|
|
NM_025136.4(OPA3):c.142+12C>A
|
|
|
|
NM_025136.4(OPA3):c.142+13C>A
|
|
|
|
NM_025136.4(OPA3):c.142+13C>G
|
|
|
|
NM_025136.4(OPA3):c.142+13C>T
|
|
|
|
NM_025136.4(OPA3):c.142+17T>A
|
|
|
|
NM_025136.4(OPA3):c.142+18T>C
|
rs1969904773
|
|
|
NM_025136.4(OPA3):c.142+20C>T
|
|
|
|
NM_025136.4(OPA3):c.142+2_142+3dup
|
rs1555736791
|
|
|
NM_025136.4(OPA3):c.142+3_142+6del
|
|
|
|
NM_025136.4(OPA3):c.142+4A>T
|
rs765495449
|
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
|
NM_025136.4(OPA3):c.142+9G>A
|
|
|
|
NM_025136.4(OPA3):c.142+9G>C
|
|
|
|
NM_025136.4(OPA3):c.143-12C>G
|
|
|
|
NM_025136.4(OPA3):c.143-12C>T
|
|
|
|
NM_025136.4(OPA3):c.143-13T>G
|
rs1278896715
|
|
|
NM_025136.4(OPA3):c.143-16C>A
|
|
|
|
NM_025136.4(OPA3):c.143-16C>G
|
|
|
|
NM_025136.4(OPA3):c.143-16CT[2]
|
|
|
|
NM_025136.4(OPA3):c.143-17C>T
|
|
|
|
NM_025136.4(OPA3):c.143-18C>T
|
|
|
|
NM_025136.4(OPA3):c.143-1G>A
|
|
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
|
NM_025136.4(OPA3):c.143-2_143-1delinsCC
|
rs1969382362
|
|
|
NM_025136.4(OPA3):c.143-3C>A
|
|
|
|
NM_025136.4(OPA3):c.143-4G>T
|
|
|
|
NM_025136.4(OPA3):c.143-5C>T
|
rs770452409
|
|
|
NM_025136.4(OPA3):c.143-5dup
|
|
|
|
NM_025136.4(OPA3):c.143-8C>T
|
rs1315898626
|
|
|
NM_025136.4(OPA3):c.143-9C>A
|
|
|
|
NM_025136.4(OPA3):c.144G>A (p.Leu48=)
|
rs2122440942
|
|
|
NM_025136.4(OPA3):c.145T>C (p.Tyr49His)
|
rs1384629048
|
|
|
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
|
|
|
|
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
|
|
|
|
NM_025136.4(OPA3):c.164G>A (p.Arg55Gln)
|
|
|
|
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
|
|
|
|
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
|
|
|
|
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
|
|
|
|
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)
|
rs2122529643
|
|
|
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
|
rs1052079541
|
|
|
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
|
|
|
|
NM_025136.4(OPA3):c.191G>A (p.Arg64Gln)
|
|
|
|
NM_025136.4(OPA3):c.194G>T (p.Gly65Val)
|
|
|
|
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
|
|
|
|
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
|
|
|
|
NM_025136.4(OPA3):c.1A>G (p.Met1Val)
|
rs1230629432
|
|
|
NM_025136.4(OPA3):c.201C>T (p.Val67=)
|
rs539986269
|
|
|
NM_025136.4(OPA3):c.201del (p.Ile68fs)
|
|
|
|
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
|
|
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
|
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
|
rs2122440115
|
|
|
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
|
|
|
|
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
|
|
|
|
NM_025136.4(OPA3):c.213G>A (p.Leu71=)
|
rs1258779986
|
|
|
NM_025136.4(OPA3):c.216C>T (p.Asn72=)
|
rs772750356
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
|
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
|
|
|
|
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
|
|
|
|
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
|
|
|
|
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
|
|
|
|
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
|
|
|
|
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
|
|
|
|
NM_025136.4(OPA3):c.235C>T (p.Leu79=)
|
rs886037828
|
|
|
NM_025136.4(OPA3):c.237G>A (p.Leu79=)
|
rs943536843
|
|
|
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
|
|
|
|
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
|
|
|
|
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)
|
rs2122440257
|
|
|
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
|
|
|
|
NM_025136.4(OPA3):c.23T>G (p.Met8Arg)
|
|
|
|
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
|
|
|
|
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
|
|
|
|
NM_025136.4(OPA3):c.246G>A (p.Glu82=)
|
rs1599964759
|
|
|
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
|
|
|
|
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
|
|
|
|
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
|
|
|
|
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
|
|
|
|
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
|
|
|
|
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)
|
rs1599964721
|
|
|
NM_025136.4(OPA3):c.255C>G (p.Gly85=)
|
rs951025429
|
|
|
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
|
|
|
|
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_025136.4(OPA3):c.263C>T (p.Thr88Ile)
|
|
|
|
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
|
|
|
|
NM_025136.4(OPA3):c.273C>G (p.Ile91Met)
|
|
|
|
NM_025136.4(OPA3):c.273C>T (p.Ile91=)
|
rs369545089
|
|
|
NM_025136.4(OPA3):c.274G>A (p.Val92Met)
|
rs752893027
|
|
|
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
|
|
|
|
NM_025136.4(OPA3):c.279C>T (p.Gly93=)
|
rs1165747962
|
|
|
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
|
|
|
|
NM_025136.4(OPA3):c.280G>A (p.Gly94Ser)
|
|
|
|
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
|
|
|
|
NM_025136.4(OPA3):c.282C>T (p.Gly94=)
|
rs1478895044
|
|
|
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
|
|
|
|
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
|
|
|
|
NM_025136.4(OPA3):c.289C>T (p.Leu97=)
|
rs755295420
|
|
|
NM_025136.4(OPA3):c.291A>G (p.Leu97=)
|
rs755689286
|
|
|
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)
|
rs967310075
|
|
|
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)
|
rs1555732924
|
|
|
NM_025136.4(OPA3):c.29A>G (p.Lys10Arg)
|
|
|
|
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
|
|
|
|
NM_025136.4(OPA3):c.30G>A (p.Lys10=)
|
rs1131692018
|
|
|
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
|
|
|
|
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)
|
rs80356525
|
|
|
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)
|
rs80356525
|
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
|
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
|
|
|
|
NM_025136.4(OPA3):c.317C>T (p.Ala106Val)
|
rs764633370
|
|
|
NM_025136.4(OPA3):c.318G>T (p.Ala106=)
|
rs867188673
|
|
|
NM_025136.4(OPA3):c.31C>T (p.Leu11=)
|
|
|
|
NM_025136.4(OPA3):c.323A>G (p.Gln108Arg)
|
|
|
|
NM_025136.4(OPA3):c.327C>G (p.Arg109=)
|
rs2122439641
|
|
|
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
|
|
|
|
NM_025136.4(OPA3):c.33G>A (p.Leu11=)
|
rs148805518
|
|
|
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
|
|
|
|
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
|
|
|
|
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
|
|
|
|
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
|
|
|
|
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
|
|
|
|
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
|
|
|
|
NM_025136.4(OPA3):c.363G>A (p.Ala121=)
|
rs1371810069
|
|
|
NM_025136.4(OPA3):c.363G>C (p.Ala121=)
|
rs1371810069
|
|
|
NM_025136.4(OPA3):c.363G>T (p.Ala121=)
|
rs1371810069
|
|
|
NM_025136.4(OPA3):c.364C>T (p.Leu122=)
|
|
|
|
NM_025136.4(OPA3):c.367C>A (p.Arg123=)
|
rs1022155897
|
|
|
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
|
|
|
|
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
|
|
|
|
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
|
|
|
|
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
|
|
|
|
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
|
|
|
|
NM_025136.4(OPA3):c.386T>A (p.Leu129Gln)
|
|
|
|
NM_025136.4(OPA3):c.389CGCTGG[1] (p.130AL[1])
|
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NM_025136.4(OPA3):c.389CGCTGG[3] (p.Leu133_Glu134insAlaLeu)
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NM_025136.4(OPA3):c.390G>A (p.Ala130=)
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rs2122439205
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NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
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NM_025136.4(OPA3):c.393G>A (p.Leu131=)
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NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)
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rs758982194
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NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
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NM_025136.4(OPA3):c.397C>T (p.Leu133=)
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rs2122439146
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NM_025136.4(OPA3):c.39C>G (p.Tyr13Ter)
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NM_025136.4(OPA3):c.405G>A (p.Ala135=)
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rs750848548
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NM_025136.4(OPA3):c.40T>C (p.Leu14=)
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rs2122529532
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NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
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NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
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rs372161100
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NM_025136.4(OPA3):c.414G>A (p.Ala138=)
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rs1969373306
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NM_025136.4(OPA3):c.414G>T (p.Ala138=)
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NM_025136.4(OPA3):c.417G>A (p.Gln139=)
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rs2122438987
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NM_025136.4(OPA3):c.417G>C (p.Gln139His)
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NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
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NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)
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rs535683352
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NM_025136.4(OPA3):c.425C>T (p.Ala142Val)
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rs2122438899
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NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
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NM_025136.4(OPA3):c.429G>A (p.Ala143=)
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rs745373208
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NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
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NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
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rs775398472
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NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
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NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
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NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
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NM_025136.4(OPA3):c.435A>G (p.Pro145=)
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NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
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NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
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NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
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NM_025136.4(OPA3):c.442G>C (p.Ala148Pro)
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NM_025136.4(OPA3):c.442G>T (p.Ala148Ser)
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NM_025136.4(OPA3):c.443C>T (p.Ala148Val)
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NM_025136.4(OPA3):c.444C>G (p.Ala148=)
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rs759536853
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NM_025136.4(OPA3):c.445C>T (p.Leu149=)
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rs1057523113
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NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
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NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
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NM_025136.4(OPA3):c.456G>A (p.Leu152=)
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NM_025136.4(OPA3):c.456G>T (p.Leu152=)
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NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
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NM_025136.4(OPA3):c.45C>T (p.Gly15=)
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NM_025136.4(OPA3):c.462A>C (p.Thr154=)
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rs2122438569
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NM_025136.4(OPA3):c.462A>G (p.Thr154=)
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NM_025136.4(OPA3):c.468G>C (p.Leu156=)
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rs2122438534
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NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
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NM_025136.4(OPA3):c.471A>G (p.Gln157=)
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NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
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NM_025136.4(OPA3):c.474G>A (p.Glu158=)
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rs1969371102
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NM_025136.4(OPA3):c.477G>C (p.Val159=)
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NM_025136.4(OPA3):c.477G>T (p.Val159=)
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NM_025136.4(OPA3):c.483C>G (p.Ala161=)
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rs2122438328
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NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
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NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
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NM_025136.4(OPA3):c.489C>T (p.Leu163=)
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NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
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NM_025136.4(OPA3):c.501C>T (p.Gly167=)
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NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)
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rs750946088
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NM_025136.4(OPA3):c.504G>A (p.Arg168=)
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NM_025136.4(OPA3):c.504G>T (p.Arg168=)
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NM_025136.4(OPA3):c.507C>G (p.Ser169=)
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rs757829968
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NM_025136.4(OPA3):c.513C>T (p.Ser171=)
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NM_025136.4(OPA3):c.514C>T (p.His172Tyr)
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rs1293731096
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NM_025136.4(OPA3):c.516C>T (p.His172=)
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rs1427115632
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NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
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NM_025136.4(OPA3):c.522G>A (p.Val174=)
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rs1969369481
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NM_025136.4(OPA3):c.531C>T (p.Ser177=)
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rs2122437966
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NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)
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rs767372876
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NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
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rs1343690502
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NM_025136.4(OPA3):c.57C>T (p.Val19=)
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rs1600010212
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NM_025136.4(OPA3):c.66G>T (p.Pro22=)
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rs1969906893
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NM_025136.4(OPA3):c.6G>A (p.Val2=)
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rs2122529689
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NM_025136.4(OPA3):c.6G>C (p.Val2=)
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rs2122529689
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NM_025136.4(OPA3):c.72C>T (p.Ala24=)
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rs1305459152
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NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
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NM_025136.4(OPA3):c.75C>T (p.Asn25=)
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rs2122529407
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NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
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rs1302916174
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NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
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NM_025136.4(OPA3):c.81del (p.Lys28fs)
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NM_025136.4(OPA3):c.84G>A (p.Lys28=)
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NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)
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rs1194417590
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NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
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NM_025136.4(OPA3):c.90C>A (p.Ala30=)
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rs1600010139
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NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
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NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
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NM_025136.4(OPA3):c.99A>C (p.Arg33=)
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NM_025136.4(OPA3):c.99A>G (p.Arg33=)
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NM_030813.6(CLPB):c.651G>C (p.Gly217=)
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NM_030813.6(CLPB):c.652G>A (p.Gly218Arg)
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NM_030813.6(CLPB):c.654dup (p.Gln219fs)
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rs1951072912
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NM_030813.6(CLPB):c.666A>C (p.Ala222=)
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NM_030813.6(CLPB):c.675C>A (p.His225Gln)
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rs2135658006
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NM_030813.6(CLPB):c.675C>T (p.His225=)
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NM_030813.6(CLPB):c.679A>G (p.Thr227Ala)
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NM_030813.6(CLPB):c.687G>C (p.Gln229His)
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NM_030813.6(CLPB):c.693A>C (p.Thr231=)
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NM_030813.6(CLPB):c.705G>A (p.Glu235=)
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rs2135657829
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NM_030813.6(CLPB):c.729C>T (p.Pro243=)
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NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
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NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
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NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
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NM_032861.4(SERAC1):c.1016-20A>G
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NM_032861.4(SERAC1):c.1016-31_1016-17del
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rs374730949
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NM_032861.4(SERAC1):c.1053C>T (p.Pro351=)
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NM_032861.4(SERAC1):c.1056C>T (p.His352=)
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NM_032861.4(SERAC1):c.1074C>T (p.His358=)
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NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
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NM_032861.4(SERAC1):c.1161A>G (p.Arg387=)
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NM_032861.4(SERAC1):c.1166+15G>A
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NM_032861.4(SERAC1):c.1166+8del
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rs766776726
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NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
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NM_032861.4(SERAC1):c.1167-15T>C
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NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
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NM_032861.4(SERAC1):c.1182A>G (p.Ala394=)
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rs2128412053
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NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
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NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
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NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
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NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
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NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
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NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
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NM_032861.4(SERAC1):c.128+7C>T
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NM_032861.4(SERAC1):c.129-9C>A
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NM_032861.4(SERAC1):c.1290T>C (p.Tyr430=)
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NM_032861.4(SERAC1):c.1308+6G>A
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NM_032861.4(SERAC1):c.1309-18A>G
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NM_032861.4(SERAC1):c.1309-18_1309-17del
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rs780332152
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NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
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NM_032861.4(SERAC1):c.1332T>A (p.Pro444=)
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NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp)
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rs553879407
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NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
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NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs)
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rs780275814
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NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
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NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
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NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser)
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rs767870142
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NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
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NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
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NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
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rs189064007
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NM_032861.4(SERAC1):c.138A>G (p.Leu46=)
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rs777425675
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NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
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NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)
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rs115459512
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NM_032861.4(SERAC1):c.1403+15T>C
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NM_032861.4(SERAC1):c.1403+1G>A
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rs1131690799
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NM_032861.4(SERAC1):c.1404-13TTGTT[3]
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NM_032861.4(SERAC1):c.1491T>A (p.His497Gln)
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rs1064796860
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NM_032861.4(SERAC1):c.1501+16A>C
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rs369225459
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NM_032861.4(SERAC1):c.1501+16A>G
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rs369225459
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NM_032861.4(SERAC1):c.1501+3_1501+6dup
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NM_032861.4(SERAC1):c.1501+4A>C
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rs755406082
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NM_032861.4(SERAC1):c.1501+4A>G
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rs755406082
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NM_032861.4(SERAC1):c.1501+5G>A
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NM_032861.4(SERAC1):c.1502-15C>T
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NM_032861.4(SERAC1):c.1502-16C>T
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NM_032861.4(SERAC1):c.1502-20T>A
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rs867006888
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NM_032861.4(SERAC1):c.1502-24dup
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rs780420200
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NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg)
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rs2128410682
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NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
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NM_032861.4(SERAC1):c.1525T>C (p.Leu509=)
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NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
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NM_032861.4(SERAC1):c.1533C>G (p.Ala511=)
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NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
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NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
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NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
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NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
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NM_032861.4(SERAC1):c.1645C>T (p.Leu549Phe)
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NM_032861.4(SERAC1):c.1684+10T>C
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NM_032861.4(SERAC1):c.1684+1G>T
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rs2128410576
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NM_032861.4(SERAC1):c.1684+20A>G
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NM_032861.4(SERAC1):c.1684+2T>C
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NM_032861.4(SERAC1):c.1684+7C>T
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rs765831183
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NM_032861.4(SERAC1):c.1685-19G>A
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NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
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NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
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NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
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NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
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NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
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NM_032861.4(SERAC1):c.1821A>G (p.Glu607=)
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rs367951518
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NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
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NM_032861.4(SERAC1):c.1829-6C>G
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NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
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NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
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NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
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NM_032861.4(SERAC1):c.1916G>A (p.Arg639His)
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rs768913919
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NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro)
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rs768913919
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NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
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NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
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NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
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NM_032861.4(SERAC1):c.195G>A (p.Val65=)
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rs2128422348
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NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys)
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rs1784140439
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NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
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NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
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NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)
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rs1384614641
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NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly)
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rs2128422343
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NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
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rs139301835
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NM_032861.4(SERAC1):c.21C>T (p.Cys7=)
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rs139301835
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NM_032861.4(SERAC1):c.227_228dup (p.Val77fs)
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rs886041750
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NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
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NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu)
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rs376468988
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NM_032861.4(SERAC1):c.265+11T>C
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NM_032861.4(SERAC1):c.265+11del
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NM_032861.4(SERAC1):c.289G>T (p.Glu97Ter)
|
|
|
|
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
|
|
|
|
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
|
|
|
|
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
|
|
|
|
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
|
|
|
|
NM_032861.4(SERAC1):c.356-16T>C
|
rs1785075456
|
|
|
NM_032861.4(SERAC1):c.356-20G>C
|
|
|
|
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly)
|
rs191208250
|
|
|
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
|
|
|
|
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
|
|
|
|
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
|
|
|
|
NM_032861.4(SERAC1):c.447C>T (p.Leu149=)
|
|
|
|
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu)
|
rs1785406112
|
|
|
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
|
|
|
|
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
|
|
|
|
NM_032861.4(SERAC1):c.488-3T>G
|
rs2128420377
|
|
|
NM_032861.4(SERAC1):c.507T>C (p.Ile169=)
|
|
|
|
NM_032861.4(SERAC1):c.531T>C (p.Thr177=)
|
|
|
|
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
|
|
|
|
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
|
|
|
|
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
|
|
|
|
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)
|
rs576602246
|
|
|
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
|
rs564717592
|
|
|
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
|
|
|
|
NM_032861.4(SERAC1):c.597A>G (p.Pro199=)
|
|
|
|
NM_032861.4(SERAC1):c.610-17C>G
|
|
|
|
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter)
|
rs1383515185
|
|
|
NM_032861.4(SERAC1):c.642G>T (p.Leu214Phe)
|
|
|
|
NM_032861.4(SERAC1):c.686A>G (p.Tyr229Cys)
|
|
|
|
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
|
|
|
|
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
|
|
|
|
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
|
|
|
|
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
|
|
|
|
NM_032861.4(SERAC1):c.738+15T>A
|
|
|
|
NM_032861.4(SERAC1):c.738+5G>C
|
|
|
|
NM_032861.4(SERAC1):c.738+8C>T
|
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|
|
NM_032861.4(SERAC1):c.739-13A>G
|
|
|
|
NM_032861.4(SERAC1):c.739-15T>A
|
rs1055428813
|
|
|
NM_032861.4(SERAC1):c.771T>C (p.Leu257=)
|
|
|
|
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser)
|
rs571113650
|
|
|
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)
|
|
|
|
NM_032861.4(SERAC1):c.780T>C (p.Ala260=)
|
rs2128415873
|
|
|
NM_032861.4(SERAC1):c.804A>G (p.Ser268=)
|
|
|
|
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
|
|
|
|
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
|
|
|
|
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
|
|
|
|
NM_032861.4(SERAC1):c.822C>T (p.Phe274=)
|
|
|
|
NM_032861.4(SERAC1):c.840A>T (p.Val280=)
|
rs2128415848
|
|
|
NM_032861.4(SERAC1):c.852+16A>T
|
|
|
|
NM_032861.4(SERAC1):c.852+7T>C
|
rs1452026354
|
|
|
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
|
|
|
|
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly)
|
rs779737059
|
|
|
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
|
|
|
|
NM_032861.4(SERAC1):c.876C>A (p.Ile292=)
|
|
|
|
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
|
|
|
|
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
|
|
|
|
NM_032861.4(SERAC1):c.91+13T>A
|
|
|
|
NM_032861.4(SERAC1):c.91+14A>G
|
|
|
|
NM_032861.4(SERAC1):c.91+9A>G
|
|
|
|
NM_032861.4(SERAC1):c.92-10del
|
|
|
|
NM_032861.4(SERAC1):c.92-17C>T
|
rs1785305261
|
|
|
NM_032861.4(SERAC1):c.92-20del
|
|
|
|
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)
|
rs2128415147
|
|
|
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
|
|
|
|
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)
|
|
|
|
NM_032861.4(SERAC1):c.959G>A (p.Arg320His)
|
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
|
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
|
|
|
|
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
|
rs1884735595
|
|
|
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
|
|
|
|
NM_052845.4(MMAB):c.108C>T (p.Gly36=)
|
rs2136213363
|
|
|
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
|
|
|
|
NM_052845.4(MMAB):c.116del (p.Gly39fs)
|
|
|
|
NM_052845.4(MMAB):c.126C>T (p.Asp42=)
|
rs2136213327
|
|
|
NM_052845.4(MMAB):c.132C>T (p.Asp44=)
|
rs747649185
|
|
|
NM_052845.4(MMAB):c.134+10T>G
|
|
|
|
NM_052845.4(MMAB):c.134+14G>A
|
|
|
|
NM_052845.4(MMAB):c.134+16G>A
|
|
|
|
NM_052845.4(MMAB):c.134+16del
|
|
|
|
NM_052845.4(MMAB):c.134+1G>T
|
|
|
|
NM_052845.4(MMAB):c.134+20G>A
|
|
|
|
NM_052845.4(MMAB):c.134+2T>A
|
|
|
|
NM_052845.4(MMAB):c.134+7G>A
|
|
|
|
NM_052845.4(MMAB):c.135-12A>T
|
|
|
|
NM_052845.4(MMAB):c.135-19G>A
|
|
|
|
NM_052845.4(MMAB):c.135-8C>T
|
rs2136210870
|
|
|
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)
|
|
|
|
NM_052845.4(MMAB):c.144T>G (p.Pro48=)
|
rs2136210832
|
|
|
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
|
|
|
|
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
|
rs2136210801
|
|
|
NM_052845.4(MMAB):c.165C>T (p.Ile55=)
|
rs2136210798
|
|
|
NM_052845.4(MMAB):c.16C>G (p.Leu6Val)
|
|
|
|
NM_052845.4(MMAB):c.16C>T (p.Leu6=)
|
rs1190176115
|
|
|
NM_052845.4(MMAB):c.177C>T (p.Tyr59=)
|
rs2136210789
|
|
|
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
|
|
|
|
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
|
|
|
|
NM_052845.4(MMAB):c.189A>G (p.Gly63=)
|
rs2136210776
|
|
|
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
|
|
|
|
NM_052845.4(MMAB):c.196+13C>G
|
|
|
|
NM_052845.4(MMAB):c.196+17T>G
|
|
|
|
NM_052845.4(MMAB):c.196+9G>A
|
|
|
|
NM_052845.4(MMAB):c.197-12T>C
|
|
|
|
NM_052845.4(MMAB):c.197-14A>G
|
|
|
|
NM_052845.4(MMAB):c.197-15C>A
|
|
|
|
NM_052845.4(MMAB):c.197-1G>A
|
rs763935916
|
|
|
NM_052845.4(MMAB):c.197-7T>C
|
|
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
|
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
|
rs1884749143
|
|
|
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
|
rs147297426
|
|
|
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
|
|
|
|
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
|
rs2136208377
|
|
|
NM_052845.4(MMAB):c.222A>G (p.Glu74=)
|
rs1389815526
|
|
|
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)
|
rs1389815526
|
|
|
NM_052845.4(MMAB):c.225G>A (p.Arg75=)
|
rs267603297
|
|
|
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
|
|
|
|
NM_052845.4(MMAB):c.243A>G (p.Gln81=)
|
rs1473011297
|
|
|
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
|
rs1185132313
|
|
|
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)
|
rs2136208348
|
|
|
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
|
|
|
|
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
|
|
|
|
NM_052845.4(MMAB):c.258G>A (p.Val86=)
|
rs2136208331
|
|
|
NM_052845.4(MMAB):c.266del (p.Thr89fs)
|
|
|
|
NM_052845.4(MMAB):c.27T>C (p.Arg9=)
|
rs1311011214
|
|
|
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
|
|
|
|
NM_052845.4(MMAB):c.282A>G (p.Ser94=)
|
|
|
|
NM_052845.4(MMAB):c.290+12A>G
|
|
|
|
NM_052845.4(MMAB):c.290+19G>T
|
|
|
|
NM_052845.4(MMAB):c.290+1G>A
|
rs1351673148
|
|
|
NM_052845.4(MMAB):c.290+7G>C
|
|
|
|
NM_052845.4(MMAB):c.290+8G>T
|
|
|
|
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)
|
rs864309511
|
|
|
NM_052845.4(MMAB):c.291-15C>G
|
|
|
|
NM_052845.4(MMAB):c.291-16del
|
|
|
|
NM_052845.4(MMAB):c.291-18T>C
|
|
|
|
NM_052845.4(MMAB):c.291-3dup
|
rs2136203965
|
|
|
NM_052845.4(MMAB):c.291-5C>G
|
|
|
|
NM_052845.4(MMAB):c.291-7T>G
|
|
|
|
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
|
|
|
|
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
|
rs2136203950
|
|
|
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
|
|
|
|
NM_052845.4(MMAB):c.2T>C (p.Met1Thr)
|
rs869320655
|
|
|
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
|
rs869320655
|
|
|
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
|
rs757088429
|
|
|
NM_052845.4(MMAB):c.312A>C (p.Thr104=)
|
|
|
|
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
|
|
|
|
NM_052845.4(MMAB):c.327A>C (p.Thr109=)
|
|
|
|
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
|
|
|
|
NM_052845.4(MMAB):c.330del (p.Phe110fs)
|
rs2136203888
|
|
|
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)
|
|
|
|
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
|
rs2136203868
|
|
|
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
|
|
|
|
NM_052845.4(MMAB):c.342T>A (p.Leu114=)
|
rs2136203863
|
|
|
NM_052845.4(MMAB):c.348+11C>T
|
|
|
|
NM_052845.4(MMAB):c.348+20C>G
|
|
|
|
NM_052845.4(MMAB):c.349-14C>G
|
|
|
|
NM_052845.4(MMAB):c.349-20C>T
|
|
|
|
NM_052845.4(MMAB):c.349-4C>G
|
rs2136199982
|
|
|
NM_052845.4(MMAB):c.349-5C>G
|
|
|
|
NM_052845.4(MMAB):c.349-5C>T
|
rs1228758269
|
|
|
NM_052845.4(MMAB):c.349-6C>T
|
|
|
|
NM_052845.4(MMAB):c.349-8C>A
|
|
|
|
NM_052845.4(MMAB):c.349-8C>G
|
rs1468191738
|
|
|
NM_052845.4(MMAB):c.349-8C>T
|
rs1468191738
|
|
|
NM_052845.4(MMAB):c.349-8dup
|
rs759049347
|
|
|
NM_052845.4(MMAB):c.349-9G>C
|
|
|
|
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
|
|
|
|
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
|
|
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
|
NM_052845.4(MMAB):c.381C>T (p.Ala127=)
|
rs1204546700
|
|
|
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
|
|
|
|
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
|
|
|
|
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
|
rs763783083
|
|
|
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
|
rs760995089
|
|
|
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
|
|
|
|
NM_052845.4(MMAB):c.414T>G (p.Ala138=)
|
rs2136199754
|
|
|
NM_052845.4(MMAB):c.417C>T (p.His139=)
|
rs2136199746
|
|
|
NM_052845.4(MMAB):c.418T>C (p.Leu140=)
|
rs768054177
|
|
|
NM_052845.4(MMAB):c.421+14T>A
|
rs760915792
|
|
|
NM_052845.4(MMAB):c.421+18G>C
|
|
|
|
NM_052845.4(MMAB):c.421+1G>A
|
rs2136199734
|
|
|
NM_052845.4(MMAB):c.421+7C>A
|
|
|
|
NM_052845.4(MMAB):c.422-19del
|
|
|
|
NM_052845.4(MMAB):c.422-1G>A
|
|
|
|
NM_052845.4(MMAB):c.422-1G>C
|
rs2136199436
|
|
|
NM_052845.4(MMAB):c.422-5_422-3del
|
rs2136199438
|
|
|
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
|
|
|
|
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
|
|
|
|
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
|
|
|
|
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
|
|
|
|
NM_052845.4(MMAB):c.432G>A (p.Thr144=)
|
rs200127370
|
|
|
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
|
|
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
|
NM_052845.4(MMAB):c.441G>A (p.Ala147=)
|
rs1038979872
|
|
|
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
|
rs1038979872
|
|
|
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
|
|
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
|
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter)
|
rs2136199292
|
|
|
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)
|
|
|
|
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter)
|
rs2136199270
|
|
|
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
|
rs1884201610
|
|
|
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
|
|
|
|
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)
|
rs1393437649
|
|
|
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
|
|
|
|
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
|
|
|
|
NM_052845.4(MMAB):c.513C>T (p.Ile171=)
|
rs2136199131
|
|
|
NM_052845.4(MMAB):c.519+10G>A
|
rs771725706
|
|
|
NM_052845.4(MMAB):c.519+13C>T
|
|
|
|
NM_052845.4(MMAB):c.519+16G>A
|
|
|
|
NM_052845.4(MMAB):c.519+17C>T
|
rs1884195985
|
|
|
NM_052845.4(MMAB):c.519+19T>A
|
|
|
|
NM_052845.4(MMAB):c.519+1G>A
|
rs1592998207
|
|
|
NM_052845.4(MMAB):c.520-15C>T
|
|
|
|
NM_052845.4(MMAB):c.520-18G>A
|
|
|
|
NM_052845.4(MMAB):c.520-19T>C
|
|
|
|
NM_052845.4(MMAB):c.520-20A>G
|
|
|
|
NM_052845.4(MMAB):c.520-4T>C
|
|
|
|
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
|
rs374802787
|
|
|
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)
|
rs1439180009
|
|
|
NM_052845.4(MMAB):c.545_570del (p.Leu182fs)
|
|
|
|
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)
|
|
|
|
NM_052845.4(MMAB):c.54G>A (p.Leu18=)
|
rs1884741296
|
|
|
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
|
rs767774574
|
|
|
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
|
|
|
|
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
|
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
|
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
|
|
|
|
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
|
|
|
|
NM_052845.4(MMAB):c.561C>G (p.Ala187=)
|
rs370773720
|
|
|
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
|
rs1555274496
|
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
|
NM_052845.4(MMAB):c.564G>A (p.Val188=)
|
|
|
|
NM_052845.4(MMAB):c.565_577del (p.Cys189fs)
|
|
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
|
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
|
|
|
|
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)
|
rs36013132
|
|
|
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
|
|
|
|
NM_052845.4(MMAB):c.573G>C (p.Arg191=)
|
rs2136198226
|
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
|
NM_052845.4(MMAB):c.574dup (p.Ala192fs)
|
|
|
|
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
|
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
|
NM_052845.4(MMAB):c.579G>A (p.Glu193=)
|
rs2136198146
|
|
|
NM_052845.4(MMAB):c.57C>G (p.Arg19=)
|
rs10774774
|
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
|
NM_052845.4(MMAB):c.581_582del (p.Arg194fs)
|
rs1592997663
|
|
|
NM_052845.4(MMAB):c.584+12G>A
|
|
|
|
NM_052845.4(MMAB):c.584+14_584+33del
|
rs1555274482
|
|
|
NM_052845.4(MMAB):c.584+2T>C
|
|
|
|
NM_052845.4(MMAB):c.584+8G>C
|
|
|
|
NM_052845.4(MMAB):c.584+9G>C
|
|
|
|
NM_052845.4(MMAB):c.585-10C>T
|
rs375474421
|
|
|
NM_052845.4(MMAB):c.585-12C>T
|
|
|
|
NM_052845.4(MMAB):c.585-16T>A
|
|
|
|
NM_052845.4(MMAB):c.585-16T>C
|
|
|
|
NM_052845.4(MMAB):c.585-17G>A
|
|
|
|
NM_052845.4(MMAB):c.585-18T>C
|
|
|
|
NM_052845.4(MMAB):c.585-2A>C
|
rs1555274254
|
|
|
NM_052845.4(MMAB):c.585-4C>G
|
rs2136195288
|
|
|
NM_052845.4(MMAB):c.585-9C>T
|
|
|
|
NM_052845.4(MMAB):c.591G>A (p.Val197=)
|
rs2136195257
|
|
|
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
|
|
|
|
NM_052845.4(MMAB):c.604A>G (p.Met202Val)
|
rs1884098738
|
|
|
NM_052845.4(MMAB):c.60G>A (p.Gly20=)
|
rs766597566
|
|
|
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
|
rs766597566
|
|
|
NM_052845.4(MMAB):c.615C>G (p.Thr205=)
|
rs760629956
|
|
|
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
|
|
|
|
NM_052845.4(MMAB):c.61dup (p.Cys21fs)
|
rs2136213505
|
|
|
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
|
|
|
|
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
|
|
|
|
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
|
|
|
|
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter)
|
rs2136195113
|
|
|
NM_052845.4(MMAB):c.644+14A>C
|
|
|
|
NM_052845.4(MMAB):c.644+17T>C
|
|
|
|
NM_052845.4(MMAB):c.644+1G>A
|
rs1592996077
|
|
|
NM_052845.4(MMAB):c.644+7dup
|
|
|
|
NM_052845.4(MMAB):c.645-16C>A
|
|
|
|
NM_052845.4(MMAB):c.645-20CT[6]
|
|
|
|
NM_052845.4(MMAB):c.645-7C>T
|
|
|
|
NM_052845.4(MMAB):c.645-8C>T
|
|
|
|
NM_052845.4(MMAB):c.649dup (p.Ser217fs)
|
|
|
|
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
|
|
|
|
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)
|
rs2136192590
|
|
|
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
|
|
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
|
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
|
rs369296142
|
|
|
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
|
|
|
|
NM_052845.4(MMAB):c.66C>T (p.Phe22=)
|
rs765869812
|
|
|
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
|
|
|
|
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
|
|
|
|
NM_052845.4(MMAB):c.691G>T (p.Glu231Ter)
|
|
|
|
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
|
|
|
|
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
|
|
|
|
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
|
|
|
|
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
|
|
|
|
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
|
|
|
|
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
|
|
|
|
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
|
rs186864802
|
|
|
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
|
rs377015836
|
|
|
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
|
rs377015836
|
|
|
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
|
|
|
|
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
|
rs747142605
|
|
|
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
|
|
|
|
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
|
|
|
|
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)
|
|
|
|
NM_145261.4(DNAJC19):c.122del (p.Pro41fs)
|
|
|
|
NM_145261.4(DNAJC19):c.129+7C>T
|
rs2108509597
|
|
|
NM_145261.4(DNAJC19):c.130-4T>C
|
|
|
|
NM_145261.4(DNAJC19):c.132C>G (p.Ala44=)
|
|
|
|
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)
|
|
|
|
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
|
|
|
|
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
|
|
|
|
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
|
|
|
|
NM_145261.4(DNAJC19):c.168dup (p.Lys57fs)
|
|
|
|
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)
|
|
|
|
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)
|
|
|
|
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val)
|
rs2108508819
|
|
|
NM_145261.4(DNAJC19):c.209+11C>T
|
rs374496383
|
|
|
NM_145261.4(DNAJC19):c.209+19T>C
|
|
|
|
NM_145261.4(DNAJC19):c.210-12T>A
|
|
|
|
NM_145261.4(DNAJC19):c.210-14_210-11del
|
|
|
|
NM_145261.4(DNAJC19):c.210-14_210-13del
|
rs757422860
|
|
|
NM_145261.4(DNAJC19):c.210-18A>G
|
|
|
|
NM_145261.4(DNAJC19):c.210-2A>G
|
|
|
|
NM_145261.4(DNAJC19):c.210-4T>C
|
|
|
|
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.219C>T (p.Ala73=)
|
|
|
|
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser)
|
rs1218208437
|
|
|
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)
|
|
|
|
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)
|
|
|
|
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
|
|
|
|
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)
|
|
|
|
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)
|
rs1714880831
|
|
|
NM_145261.4(DNAJC19):c.263del (p.Leu87_Leu88insTer)
|
|
|
|
NM_145261.4(DNAJC19):c.280+15A>C
|
|
|
|
NM_145261.4(DNAJC19):c.280+19C>A
|
rs1203314065
|
|
|
NM_145261.4(DNAJC19):c.280+1_280+5del
|
rs753055824
|
|
|
NM_145261.4(DNAJC19):c.280+4_280+7del
|
|
|
|
NM_145261.4(DNAJC19):c.281-15T>G
|
|
|
|
NM_145261.4(DNAJC19):c.281-15dup
|
rs764813798
|
|
|
NM_145261.4(DNAJC19):c.281-16_281-15del
|
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-19del
|
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-20del
|
|
|
|
NM_145261.4(DNAJC19):c.281-4A>G
|
|
|
|
NM_145261.4(DNAJC19):c.281-5T>A
|
rs766954639
|
|
|
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=)
|
rs2108506993
|
|
|
NM_145261.4(DNAJC19):c.28C>T (p.Leu10=)
|
|
|
|
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
|
|
|
|
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)
|
|
|
|
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.3+11C>A
|
|
|
|
NM_145261.4(DNAJC19):c.3+13T>C
|
rs2108511019
|
|
|
NM_145261.4(DNAJC19):c.3+7G>T
|
|
|
|
NM_145261.4(DNAJC19):c.30G>C (p.Leu10=)
|
|
|
|
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val)
|
rs2108506959
|
|
|
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile)
|
rs1715007911
|
|
|
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)
|
|
|
|
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)
|
|
|
|
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
|
|
|
|
NM_145261.4(DNAJC19):c.348del (p.Lys116fs)
|
rs1714802157
|
|
|
NM_145261.4(DNAJC19):c.4-1G>A
|
rs878852999
|
|
|
NM_145261.4(DNAJC19):c.4-24_15del
|
|
|
|
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)
|
|
|
|
NM_145261.4(DNAJC19):c.45A>G (p.Ala15=)
|
|
|
|
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)
|
rs1715007577
|
|
|
NM_145261.4(DNAJC19):c.55+10T>C
|
|
|
|
NM_145261.4(DNAJC19):c.55+1G>A
|
rs2108509746
|
|
|
NM_145261.4(DNAJC19):c.55+20A>T
|
rs1577025780
|
|
|
NM_145261.4(DNAJC19):c.55+5G>C
|
rs1454974888
|
|
|
NM_145261.4(DNAJC19):c.56-17G>C
|
|
|
|
NM_145261.4(DNAJC19):c.56-7G>T
|
|
|
|
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)
|
|
|
|
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
|
rs145786060
|
|
|
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=)
|
rs145786060
|
|
|
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)
|
rs2108509666
|
|
|
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
|
|
|
|
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr)
|
rs2108509645
|
|
|
NM_145261.4(DNAJC19):c.84T>C (p.His28=)
|
|
|
|
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)
|
rs1018880684
|
|
|
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
|
|
|
|
NM_172250.3(MMAA):c.1005C>A (p.Ile335=)
|
rs2126629821
|
|
|
NM_172250.3(MMAA):c.1020T>C (p.Asp340=)
|
|
|
|
NM_172250.3(MMAA):c.1023A>G (p.Lys341=)
|
rs2126629831
|
|
|
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
|
|
|
|
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
|
|
|
|
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)
|
rs866580843
|
|
|
NM_172250.3(MMAA):c.1056T>C (p.Ser352=)
|
rs1302017266
|
|
|
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
|
|
|
|
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
|
|
|
|
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
|
|
|
|
NM_172250.3(MMAA):c.1095T>C (p.Val365=)
|
rs2126629917
|
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
|
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
|
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
|
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
|
|
|
|
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
|
|
|
|
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
|
|
|
|
NM_172250.3(MMAA):c.1124del (p.Val375fs)
|
|
|
|
NM_172250.3(MMAA):c.1131G>A (p.Glu377=)
|
rs2126629961
|
|
|
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
|
rs1728200540
|
|
|
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)
|
rs1057520160
|
|
|
NM_172250.3(MMAA):c.1145del (p.His382fs)
|
|
|
|
NM_172250.3(MMAA):c.1146C>T (p.His382=)
|
rs1186287486
|
|
|
NM_172250.3(MMAA):c.1149C>A (p.Pro383=)
|
rs2126629982
|
|
|
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
|
|
|
|
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
|
|
|
|
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
|
|
|
|
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
|
|
|
|
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
|
|
|
|
NM_172250.3(MMAA):c.1170A>G (p.Pro390=)
|
rs2126630021
|
|
|
NM_172250.3(MMAA):c.1179A>G (p.Glu393=)
|
rs1578888894
|
|
|
NM_172250.3(MMAA):c.117A>G (p.Pro39=)
|
rs2126617113
|
|
|
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
|
|
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
|
NM_172250.3(MMAA):c.1203G>A (p.Leu401=)
|
rs2126630061
|
|
|
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)
|
rs1374931888
|
|
|
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
|
|
|
|
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
|
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
|
|
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
|
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)
|
rs2126617138
|
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
|
NM_172250.3(MMAA):c.139_140del (p.Leu47fs)
|
rs1560795828
|
|
|
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
|
|
|
|
NM_172250.3(MMAA):c.150T>C (p.His50=)
|
rs2126617181
|
|
|
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
|
|
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
|
NM_172250.3(MMAA):c.166C>T (p.Leu56=)
|
rs2126617212
|
|
|
NM_172250.3(MMAA):c.168G>A (p.Leu56=)
|
rs1396471571
|
|
|
NM_172250.3(MMAA):c.168G>T (p.Leu56=)
|
rs1396471571
|
|
|
NM_172250.3(MMAA):c.170del (p.Leu57fs)
|
|
|
|
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
|
|
|
|
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
|
|
|
|
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
|
|
|
|
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
|
|
|
|
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
|
|
|
|
NM_172250.3(MMAA):c.201A>G (p.Val67=)
|
|
|
|
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)
|
rs754894257
|
|
|
NM_172250.3(MMAA):c.204A>G (p.Gln68=)
|
rs1727714117
|
|
|
NM_172250.3(MMAA):c.210C>T (p.Thr70=)
|
|
|
|
NM_172250.3(MMAA):c.21T>C (p.His7=)
|
|
|
|
NM_172250.3(MMAA):c.222C>T (p.His74=)
|
rs1578877626
|
|
|
NM_172250.3(MMAA):c.240T>C (p.Asp80=)
|
rs2126617322
|
|
|
NM_172250.3(MMAA):c.246G>A (p.Glu82=)
|
rs750230122
|
|
|
NM_172250.3(MMAA):c.255T>C (p.Phe85=)
|
rs2126617358
|
|
|
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
|
|
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
|
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
|
|
|
|
NM_172250.3(MMAA):c.288G>A (p.Gly96=)
|
rs559279147
|
|
|
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
|
|
|
|
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
|
|
|
|
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
|
rs1727720677
|
|
|
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
|
|
|
|
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
|
|
|
|
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
|
|
|
|
NM_172250.3(MMAA):c.335A>G (p.His112Arg)
|
rs2126617469
|
|
|
NM_172250.3(MMAA):c.342G>A (p.Arg114=)
|
rs774790573
|
|
|
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
|
|
|
|
NM_172250.3(MMAA):c.349G>T (p.Glu117Ter)
|
|
|
|
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
|
|
|
|
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
|
|
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
|
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
|
|
|
|
NM_172250.3(MMAA):c.363G>C (p.Val121=)
|
rs2126617517
|
|
|
NM_172250.3(MMAA):c.369T>G (p.Leu123=)
|
rs1418638749
|
|
|
NM_172250.3(MMAA):c.36C>T (p.Phe12=)
|
rs1661385949
|
|
|
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
|
|
|
|
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
|
|
|
|
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
|
|
|
|
NM_172250.3(MMAA):c.388del (p.His130fs)
|
|
|
|
NM_172250.3(MMAA):c.390C>T (p.His130=)
|
|
|
|
NM_172250.3(MMAA):c.39A>C (p.Leu13=)
|
rs1727705456
|
|
|
NM_172250.3(MMAA):c.402A>G (p.Glu134=)
|
rs2126617588
|
|
|
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
|
|
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
|
NM_172250.3(MMAA):c.414A>G (p.Lys138=)
|
rs1237655127
|
|
|
NM_172250.3(MMAA):c.439+12T>G
|
|
|
|
NM_172250.3(MMAA):c.439+14G>T
|
|
|
|
NM_172250.3(MMAA):c.439+14del
|
|
|
|
NM_172250.3(MMAA):c.439+16G>C
|
|
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
|
NM_172250.3(MMAA):c.439+9T>C
|
|
|
|
NM_172250.3(MMAA):c.440-10dup
|
|
|
|
NM_172250.3(MMAA):c.440-19A>C
|
|
|
|
NM_172250.3(MMAA):c.440-2A>G
|
|
|
|
NM_172250.3(MMAA):c.440-7A>C
|
rs1337205137
|
|
|
NM_172250.3(MMAA):c.440-9C>A
|
|
|
|
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
|
|
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
|
NM_172250.3(MMAA):c.453C>G (p.Pro151=)
|
rs879110861
|
|
|
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
|
|
|
|
NM_172250.3(MMAA):c.468dup (p.Ser157fs)
|
rs2126619930
|
|
|
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
|
|
|
|
NM_172250.3(MMAA):c.503del (p.Thr168fs)
|
rs864309728
|
|
|
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
|
|
|
|
NM_172250.3(MMAA):c.513G>A (p.Gly171=)
|
rs2126620000
|
|
|
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
|
|
|
|
NM_172250.3(MMAA):c.51A>G (p.Leu17=)
|
|
|
|
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
|
|
|
|
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
|
|
|
|
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
|
|
|
|
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
|
|
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
|
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
|
|
|
|
NM_172250.3(MMAA):c.562+17C>A
|
|
|
|
NM_172250.3(MMAA):c.562+18T>G
|
|
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
|
NM_172250.3(MMAA):c.562+2T>C
|
|
|
|
NM_172250.3(MMAA):c.562+4A>C
|
rs1336573288
|
|
|
NM_172250.3(MMAA):c.562+7A>T
|
rs2126620073
|
|
|
NM_172250.3(MMAA):c.562+8T>C
|
|
|
|
NM_172250.3(MMAA):c.562+9G>A
|
rs2126620076
|
|
|
NM_172250.3(MMAA):c.563-17G>A
|
|
|
|
NM_172250.3(MMAA):c.563-4T>A
|
|
|
|
NM_172250.3(MMAA):c.564A>T (p.Gly188=)
|
rs1727918663
|
|
|
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
|
|
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
|
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
|
|
|
|
NM_172250.3(MMAA):c.600A>G (p.Leu200=)
|
rs2126622751
|
|
|
NM_172250.3(MMAA):c.603A>G (p.Ser201=)
|
rs2126622760
|
|
|
NM_172250.3(MMAA):c.618A>G (p.Ala206=)
|
rs1727920444
|
|
|
NM_172250.3(MMAA):c.639del (p.Arg214fs)
|
rs2126622813
|
|
|
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
|
|
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
|
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
|
|
|
|
NM_172250.3(MMAA):c.657C>A (p.Gly219=)
|
rs1291307841
|
|
|
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
|
|
|
|
NM_172250.3(MMAA):c.659T>C (p.Val220Ala)
|
rs941689476
|
|
|
NM_172250.3(MMAA):c.660G>A (p.Val220=)
|
|
|
|
NM_172250.3(MMAA):c.663A>G (p.Thr221=)
|
rs2126622855
|
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
|
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
|
|
|
|
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)
|
rs2126622891
|
|
|
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
|
rs1727922828
|
|
|
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
|
|
|
|
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
|
|
|
|
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
|
|
|
|
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
|
|
|
|
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
|
|
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
|
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
|
|
|
|
NM_172250.3(MMAA):c.730G>T (p.Val244Phe)
|
rs771044996
|
|
|
NM_172250.3(MMAA):c.733+12A>G
|
|
|
|
NM_172250.3(MMAA):c.733+16T>G
|
|
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
|
NM_172250.3(MMAA):c.733+9G>A
|
|
|
|
NM_172250.3(MMAA):c.734-13T>C
|
|
|
|
NM_172250.3(MMAA):c.734-15G>A
|
|
|
|
NM_172250.3(MMAA):c.734-20G>A
|
|
|
|
NM_172250.3(MMAA):c.734-9C>A
|
rs756275016
|
|
|
NM_172250.3(MMAA):c.734-9C>T
|
rs756275016
|
|
|
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
|
|
|
|
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
|
|
|
|
NM_172250.3(MMAA):c.762T>C (p.Ala254=)
|
rs1033389087
|
|
|
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)
|
rs1728076151
|
|
|
NM_172250.3(MMAA):c.771T>C (p.Val257=)
|
rs2126627142
|
|
|
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
|
|
|
|
NM_172250.3(MMAA):c.776T>C (p.Met259Thr)
|
rs1328403056
|
|
|
NM_172250.3(MMAA):c.783T>A (p.Val261=)
|
rs2126627167
|
|
|
NM_172250.3(MMAA):c.783T>G (p.Val261=)
|
|
|
|
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
|
|
|
|
NM_172250.3(MMAA):c.78C>T (p.Phe26=)
|
rs2126617065
|
|
|
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs)
|
rs2126627182
|
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|
|
NM_172250.3(MMAA):c.803G>T (p.Gly268Val)
|
|
|
|
NM_172250.3(MMAA):c.816G>A (p.Leu272=)
|
rs1728078075
|
|
|
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
|
|
|
|
NM_172250.3(MMAA):c.819+11T>G
|
|
|
|
NM_172250.3(MMAA):c.819+13del
|
|
|
|
NM_172250.3(MMAA):c.819+19dup
|
|
|
|
NM_172250.3(MMAA):c.819+24del
|
|
|
|
NM_172250.3(MMAA):c.819+8T>C
|
|
|
|
NM_172250.3(MMAA):c.81C>T (p.Ile27=)
|
rs2126617076
|
|
|
NM_172250.3(MMAA):c.820-10A>C
|
rs2126629035
|
|
|
NM_172250.3(MMAA):c.820-13C>G
|
|
|
|
NM_172250.3(MMAA):c.820-15T>G
|
|
|
|
NM_172250.3(MMAA):c.820-18T>C
|
|
|
|
NM_172250.3(MMAA):c.820-1G>C
|
rs1553959017
|
|
|
NM_172250.3(MMAA):c.820-2A>G
|
|
|
|
NM_172250.3(MMAA):c.820-7T>C
|
|
|
|
NM_172250.3(MMAA):c.820-8C>G
|
rs1728162232
|
|
|
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
|
|
|
|
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
|
|
|
|
NM_172250.3(MMAA):c.851del (p.Asp284fs)
|
|
|
|
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
|
|
|
|
NM_172250.3(MMAA):c.858A>G (p.Val286=)
|
rs142063642
|
|
|
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
|
|
|
|
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
|
|
|
|
NM_172250.3(MMAA):c.885G>A (p.Leu295=)
|
rs2126629113
|
|
|
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
|
|
|
|
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)
|
rs1340736923
|
|
|
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
|
|
|
|
NM_172250.3(MMAA):c.924T>C (p.Ser308=)
|
rs2126629166
|
|
|
NM_172250.3(MMAA):c.933A>G (p.Lys311=)
|
rs2126629176
|
|
|
NM_172250.3(MMAA):c.940del (p.Arg314fs)
|
|
|
|
NM_172250.3(MMAA):c.942C>A (p.Arg314=)
|
rs773218154
|
|
|
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
|
|
|
|
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
|
|
|
|
NM_172250.3(MMAA):c.957C>T (p.Val319=)
|
|
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|
|
NM_172250.3(MMAA):c.969+10C>T
|
rs1728168081
|
|
|
NM_172250.3(MMAA):c.969+15A>C
|
|
|
|
NM_172250.3(MMAA):c.969+15A>G
|
|
|
|
NM_172250.3(MMAA):c.969+18C>T
|
|
|
|
NM_172250.3(MMAA):c.969+20G>T
|
|
|
|
NM_172250.3(MMAA):c.969+9G>A
|
rs1007611523
|
|
|
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
|
|
|
|
NM_172250.3(MMAA):c.970-19G>T
|
|
|
|
NM_172250.3(MMAA):c.970-3dup
|
|
|
|
NM_172250.3(MMAA):c.970-4A>T
|
rs1728189053
|
|
|
NM_172250.3(MMAA):c.970-5G>T
|
|
|
|
NM_172250.3(MMAA):c.972A>G (p.Val324=)
|
rs2126629778
|
|
|
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
|
|
|
|
NM_172250.3(MMAA):c.99T>C (p.His33=)
|
rs2126617089
|
|