NM_001171.6(ABCC6):c.3633+100A>C
|
rs3851721
|
0.97755
|
NM_001171.6(ABCC6):c.2787+62T>C
|
rs11866320
|
0.97736
|
NM_001171.6(ABCC6):c.2788-127A>G
|
rs7201980
|
0.97599
|
NM_001171.6(ABCC6):c.2788-154T>C
|
rs6498608
|
0.97501
|
NM_001171.6(ABCC6):c.3882+85C>T
|
rs3896244
|
0.97343
|
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val)
|
rs6416668
|
0.96848
|
NM_001171.6(ABCC6):c.1432-48G>A
|
rs7193932
|
0.95000
|
NM_001171.6(ABCC6):c.1338+7C>G
|
rs9940089
|
0.75013
|
NM_001171.6(ABCC6):c.1431+73C>G
|
rs6498618
|
0.71456
|
NM_006208.3(ENPP1):c.*1972G>C
|
rs1931006
|
0.57374
|
NM_006208.3(ENPP1):c.*3724C>T
|
rs2327154
|
0.46998
|
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala)
|
rs12931472
|
0.44841
|
NM_001171.6(ABCC6):c.1867+92G>A
|
rs7192265
|
0.44653
|
NM_001171.6(ABCC6):c.1780-86G>T
|
rs4369696
|
0.44514
|
NM_006208.3(ENPP1):c.*1043A>G
|
rs7754561
|
0.44199
|
NM_006208.3(ENPP1):c.*1157C>T
|
rs7754859
|
0.44164
|
NM_001171.6(ABCC6):c.1867+86T>C
|
rs7192961
|
0.43963
|
NM_001171.6(ABCC6):c.1896C>A (p.His632Gln)
|
rs8058694
|
0.43467
|
NM_001171.6(ABCC6):c.1890C>G (p.Thr630=)
|
rs8058696
|
0.42733
|
NM_001171.6(ABCC6):c.4404-31A>G
|
rs212097
|
0.35863
|
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)
|
rs1044498
|
0.32168
|
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=)
|
rs9930886
|
0.31672
|
NM_001171.6(ABCC6):c.1245G>A (p.Val415=)
|
rs9940825
|
0.30255
|
NM_006208.3(ENPP1):c.*1091A>C
|
rs7754586
|
0.28727
|
NM_001171.6(ABCC6):c.1432-41A>G
|
rs2239322
|
0.23891
|
NM_001171.6(ABCC6):c.1635+48C>T
|
rs55707615
|
0.23698
|
NM_001171.6(ABCC6):c.1338+62C>G
|
rs58394656
|
0.23048
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_001171.6(ABCC6):c.3633+55C>T
|
rs3213470
|
0.20050
|
NM_001171.6(ABCC6):c.3633+90G>A
|
rs2376957
|
0.19271
|
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=)
|
rs9924755
|
0.17690
|
NM_006208.3(ENPP1):c.*1539A>G
|
rs9493121
|
0.16942
|
NM_006208.3(ENPP1):c.*3837T>C
|
rs55725924
|
0.16400
|
NM_006208.3(ENPP1):c.*3511T>C
|
rs9483350
|
0.16375
|
NM_006208.3(ENPP1):c.*1350G>A
|
rs9493120
|
0.12565
|
NM_006208.3(ENPP1):c.*563G>A
|
rs1044586
|
0.12391
|
NM_006208.3(ENPP1):c.*1101G>T
|
rs11154647
|
0.12369
|
NM_006208.3(ENPP1):c.*1137T>C
|
rs11154648
|
0.12356
|
NM_006208.3(ENPP1):c.*777C>T
|
rs34836463
|
0.12355
|
NM_006208.3(ENPP1):c.*457T>A
|
rs1044582
|
0.12353
|
NM_006208.3(ENPP1):c.*699T>A
|
rs34142005
|
0.12323
|
NM_006208.3(ENPP1):c.*112G>A
|
rs1044548
|
0.12306
|
NM_006208.3(ENPP1):c.*163C>T
|
rs1044558
|
0.10959
|
NM_006208.3(ENPP1):c.*389G>A
|
rs553
|
0.10942
|
NM_006208.3(ENPP1):c.*698_*699insA
|
rs113083049
|
0.10931
|
NM_006208.3(ENPP1):c.*1240T>C
|
rs758925757
|
0.10712
|
NM_006208.3(ENPP1):c.*3271C>G
|
rs1510
|
0.09857
|
NM_001171.6(ABCC6):c.2835C>T (p.Pro945=)
|
rs2856585
|
0.08929
|
NM_006208.3(ENPP1):c.*4636C>T
|
rs11963615
|
0.08655
|
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=)
|
rs1804025
|
0.07647
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
NM_006208.3(ENPP1):c.313+9G>T
|
rs7773477
|
0.05630
|
NM_001171.6(ABCC6):c.*17G>A
|
rs3902401
|
0.05552
|
NM_006208.3(ENPP1):c.*3838G>A
|
rs59958908
|
0.05378
|
NM_001171.6(ABCC6):c.3507-16T>C
|
rs3213471
|
0.04995
|
NM_006208.3(ENPP1):c.*1670T>C
|
rs9493122
|
0.04663
|
NM_006208.3(ENPP1):c.*735A>G
|
rs12212882
|
0.04659
|
NM_006208.3(ENPP1):c.*1348T>C
|
rs9483349
|
0.04649
|
NM_001171.6(ABCC6):c.645G>A (p.Thr215=)
|
rs72664282
|
0.04543
|
NM_006208.3(ENPP1):c.*2282G>A
|
rs73778612
|
0.04080
|
NM_006208.3(ENPP1):c.*3017C>T
|
rs1931009
|
0.03561
|
NM_006208.3(ENPP1):c.1566-14T>C
|
rs75272847
|
0.03524
|
NM_006208.3(ENPP1):c.*2036A>G
|
rs73778611
|
0.03506
|
NM_006208.3(ENPP1):c.*3706G>A
|
rs12205225
|
0.03390
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr)
|
rs58694313
|
0.02791
|
NM_006208.3(ENPP1):c.*3784T>C
|
rs116417632
|
0.02593
|
NM_001171.6(ABCC6):c.2175A>T (p.Val725=)
|
rs59757815
|
0.02503
|
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val)
|
rs59593133
|
0.02501
|
NM_006208.3(ENPP1):c.-10C>T
|
rs750410843
|
0.02463
|
NM_006208.3(ENPP1):c.-24G>C
|
rs1800948
|
0.02445
|
NM_006208.3(ENPP1):c.*3625G>A
|
rs150482147
|
0.02409
|
NM_001171.6(ABCC6):c.662+12C>T
|
rs1555520951
|
0.01842
|
NM_006208.3(ENPP1):c.*477A>T
|
rs113086095
|
0.01777
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys)
|
rs58073789
|
0.01638
|
NM_006208.3(ENPP1):c.-13G>A
|
rs535293574
|
0.01629
|
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=)
|
rs113723070
|
0.01601
|
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=)
|
rs58703366
|
0.01571
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)
|
rs115371819
|
0.01496
|
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)
|
rs79079368
|
0.01455
|
NM_006208.3(ENPP1):c.*3163C>T
|
rs55670720
|
0.01449
|
NM_006208.3(ENPP1):c.*2900G>T
|
rs78495668
|
0.01409
|
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=)
|
rs7750837
|
0.01366
|
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=)
|
rs72664283
|
0.01355
|
NM_001171.6(ABCC6):c.474+13G>A
|
rs111339199
|
0.01326
|
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=)
|
rs9483347
|
0.01323
|
NM_006208.3(ENPP1):c.*2301A>G
|
rs115728089
|
0.01267
|
NM_001171.6(ABCC6):c.4208+9G>A
|
rs58760581
|
0.01119
|
NM_006208.3(ENPP1):c.*2076C>T
|
rs117531639
|
0.01090
|
NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn)
|
rs192110266
|
0.00934
|
NM_006208.3(ENPP1):c.*400C>A
|
rs55828988
|
0.00861
|
NM_006208.3(ENPP1):c.*1224A>G
|
rs115623040
|
0.00854
|
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)
|
rs60707953
|
0.00849
|
NM_006208.3(ENPP1):c.*4248G>A
|
rs150587148
|
0.00820
|
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=)
|
rs61266641
|
0.00789
|
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)
|
rs58668703
|
0.00784
|
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)
|
rs60712230
|
0.00774
|
NM_001171.6(ABCC6):c.955A>G (p.Ile319Val)
|
rs72657699
|
0.00744
|
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=)
|
rs61318127
|
0.00732
|
NM_006208.3(ENPP1):c.*1122A>G
|
rs148507889
|
0.00539
|
NM_006208.3(ENPP1):c.*3176T>A
|
rs114333444
|
0.00525
|
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=)
|
rs60975032
|
0.00510
|
NM_006208.3(ENPP1):c.*1038T>A
|
rs79214335
|
0.00496
|
NM_001171.6(ABCC6):c.3883-24G>A
|
rs59513011
|
0.00475
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_006208.3(ENPP1):c.*96C>T
|
rs147396850
|
0.00384
|
NM_001171.6(ABCC6):c.1636-10C>T
|
rs61480102
|
0.00335
|
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)
|
rs8192683
|
0.00299
|
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu)
|
rs140521704
|
0.00260
|
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=)
|
rs143487365
|
0.00247
|
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=)
|
rs57499497
|
0.00245
|
NM_006208.3(ENPP1):c.*3879A>G
|
rs144511581
|
0.00216
|
NM_006208.3(ENPP1):c.*4064T>C
|
rs141760620
|
0.00214
|
NM_001171.6(ABCC6):c.3507-19C>T
|
rs115016469
|
0.00209
|
NM_001171.6(ABCC6):c.*38G>A
|
rs59461468
|
0.00206
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00178
|
NM_006208.3(ENPP1):c.*3920G>A
|
rs111741864
|
0.00167
|
NM_006208.3(ENPP1):c.313+11_313+15del
|
rs771304080
|
0.00163
|
NM_006208.3(ENPP1):c.*3528C>T
|
rs557822175
|
0.00161
|
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=)
|
rs61731973
|
0.00153
|
NM_006208.3(ENPP1):c.*3594C>T
|
rs140569538
|
0.00139
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_006208.3(ENPP1):c.*1307T>G
|
rs189263683
|
0.00117
|
NM_006208.3(ENPP1):c.*4015G>A
|
rs531152298
|
0.00116
|
NM_006208.3(ENPP1):c.2101-10del
|
rs200562612
|
0.00116
|
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=)
|
rs150279426
|
0.00115
|
NM_006208.3(ENPP1):c.313+13G>T
|
rs748468831
|
0.00111
|
NM_001171.6(ABCC6):c.1432-9C>T
|
rs201633047
|
0.00108
|
NM_006208.3(ENPP1):c.*1499C>T
|
rs541116091
|
0.00106
|
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)
|
rs11861980
|
0.00098
|
NM_006208.3(ENPP1):c.*804A>G
|
rs114078048
|
0.00098
|
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys)
|
rs59206042
|
0.00094
|
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=)
|
rs150016641
|
0.00093
|
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys)
|
rs57794451
|
0.00089
|
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=)
|
rs72664287
|
0.00087
|
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=)
|
rs57546826
|
0.00086
|
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe)
|
rs140729669
|
0.00086
|
NM_006208.3(ENPP1):c.522C>T (p.Gly174=)
|
rs144882196
|
0.00080
|
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro)
|
rs1805138
|
0.00076
|
NM_001171.6(ABCC6):c.1636-20G>A
|
rs200894424
|
0.00073
|
NM_006208.3(ENPP1):c.*3718C>T
|
rs867805924
|
0.00071
|
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)
|
rs63750759
|
0.00069
|
NM_006208.3(ENPP1):c.*1239T>C
|
rs1251519009
|
0.00063
|
NM_006208.3(ENPP1):c.*2564A>G
|
rs534823686
|
0.00061
|
NM_006208.3(ENPP1):c.313+10T>G
|
rs202225018
|
0.00059
|
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)
|
rs59157279
|
0.00049
|
NM_006208.3(ENPP1):c.*1525T>G
|
rs751093256
|
0.00038
|
NM_006208.3(ENPP1):c.*467A>C
|
rs866470811
|
0.00038
|
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)
|
rs72657689
|
0.00037
|
NM_006208.3(ENPP1):c.*1125G>T
|
rs565731581
|
0.00036
|
NM_006208.3(ENPP1):c.*2342G>T
|
rs570500845
|
0.00036
|
NM_001171.6(ABCC6):c.3507-15C>T
|
rs374776435
|
0.00034
|
NM_006208.3(ENPP1):c.*3602C>T
|
rs540525767
|
0.00034
|
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=)
|
rs376210462
|
0.00033
|
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp)
|
rs72653760
|
0.00030
|
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile)
|
rs63751325
|
0.00029
|
NM_006208.3(ENPP1):c.*1960C>T
|
rs538657283
|
0.00028
|
NM_006208.3(ENPP1):c.*657A>G
|
rs1020041286
|
0.00028
|
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)
|
rs147346173
|
0.00028
|
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser)
|
rs59002125
|
0.00027
|
NM_001171.6(ABCC6):c.3507-17G>A
|
rs58571995
|
0.00026
|
NM_001171.6(ABCC6):c.396A>G (p.Ser132=)
|
rs913912489
|
0.00025
|
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=)
|
rs58494932
|
0.00024
|
NM_006208.3(ENPP1):c.*2698G>A
|
rs146550172
|
0.00023
|
NM_006208.3(ENPP1):c.*128C>T
|
rs371896132
|
0.00021
|
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)
|
rs200239821
|
0.00021
|
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)
|
rs72650699
|
0.00019
|
NM_001171.6(ABCC6):c.2787+1G>T
|
rs72664209
|
0.00017
|
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg)
|
rs79536709
|
0.00017
|
NM_006208.3(ENPP1):c.*1105T>C
|
rs534792138
|
0.00017
|
NM_006208.3(ENPP1):c.*2737C>T
|
rs545095322
|
0.00017
|
NM_006208.3(ENPP1):c.*910C>G
|
rs180843359
|
0.00017
|
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)
|
rs145868241
|
0.00017
|
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met)
|
rs542502733
|
0.00016
|
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)
|
rs151187637
|
0.00016
|
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr)
|
rs151272575
|
0.00016
|
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=)
|
rs534017491
|
0.00016
|
NM_006208.3(ENPP1):c.*637A>C
|
rs552323303
|
0.00016
|
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met)
|
rs372132926
|
0.00015
|
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg)
|
rs978346965
|
0.00015
|
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=)
|
rs145693403
|
0.00014
|
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val)
|
rs145553069
|
0.00012
|
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)
|
rs72653744
|
0.00012
|
NM_006208.3(ENPP1):c.*1221A>G
|
rs537272519
|
0.00012
|
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His)
|
rs199890118
|
0.00012
|
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val)
|
rs370022963
|
0.00011
|
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)
|
rs72653772
|
0.00011
|
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg)
|
rs200513114
|
0.00011
|
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=)
|
rs114175094
|
0.00011
|
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp)
|
rs368379895
|
0.00011
|
NM_006208.3(ENPP1):c.*2966C>G
|
rs1224210803
|
0.00010
|
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)
|
rs374270497
|
0.00010
|
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys)
|
rs369410139
|
0.00009
|
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=)
|
rs748500639
|
0.00009
|
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His)
|
rs201334880
|
0.00009
|
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser)
|
rs142470921
|
0.00009
|
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=)
|
rs372041663
|
0.00009
|
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)
|
rs63750427
|
0.00009
|
NM_001171.6(ABCC6):c.345+10C>T
|
rs768002646
|
0.00009
|
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln)
|
rs201275608
|
0.00009
|
NM_006208.3(ENPP1):c.*4346T>A
|
rs374532158
|
0.00009
|
NM_006208.3(ENPP1):c.*485C>A
|
rs563326994
|
0.00009
|
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser)
|
rs754866098
|
0.00009
|
NM_006208.3(ENPP1):c.750G>A (p.Pro250=)
|
rs368742582
|
0.00009
|
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met)
|
rs368806440
|
0.00008
|
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr)
|
rs377008733
|
0.00008
|
NM_006208.3(ENPP1):c.*1858C>G
|
rs559926548
|
0.00008
|
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val)
|
rs750660271
|
0.00008
|
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile)
|
rs372059636
|
0.00007
|
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp)
|
rs72653784
|
0.00007
|
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met)
|
rs372121585
|
0.00007
|
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys)
|
rs201519006
|
0.00007
|
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=)
|
rs536023117
|
0.00007
|
NM_006208.3(ENPP1):c.313+11G>T
|
rs781539069
|
0.00007
|
NM_001171.6(ABCC6):c.1338+16A>C
|
rs764198351
|
0.00006
|
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=)
|
rs145764775
|
0.00006
|
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile)
|
rs372235202
|
0.00006
|
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln)
|
rs777566074
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln)
|
rs67561842
|
0.00006
|
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His)
|
rs116898670
|
0.00006
|
NM_001171.6(ABCC6):c.2542del (p.Met848fs)
|
rs67867306
|
0.00006
|
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu)
|
rs749463148
|
0.00006
|
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)
|
rs63750459
|
0.00006
|
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)
|
rs60791294
|
0.00006
|
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)
|
rs553479685
|
0.00006
|
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met)
|
rs141728905
|
0.00006
|
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu)
|
rs77913024
|
0.00006
|
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)
|
rs374086268
|
0.00006
|
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met)
|
rs200485267
|
0.00006
|
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=)
|
rs559653607
|
0.00006
|
NM_001171.6(ABCC6):c.4404-5C>A
|
rs58190361
|
0.00006
|
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu)
|
rs778956327
|
0.00006
|
NM_006208.3(ENPP1):c.*4586G>A
|
rs886061083
|
0.00006
|
NM_006208.3(ENPP1):c.2445-5T>C
|
rs369942606
|
0.00006
|
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)
|
rs187764662
|
0.00006
|
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)
|
rs147798392
|
0.00006
|
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys)
|
rs138049574
|
0.00005
|
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys)
|
rs762758350
|
0.00005
|
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)
|
rs72664233
|
0.00005
|
NM_006208.3(ENPP1):c.*4471C>T
|
rs755679925
|
0.00005
|
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)
|
rs201757026
|
0.00005
|
NM_006208.3(ENPP1):c.2415A>T (p.Gly805=)
|
rs150970657
|
0.00005
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.1780-11G>A
|
rs532189625
|
0.00004
|
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=)
|
rs57866002
|
0.00004
|
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=)
|
rs770859081
|
0.00004
|
NM_001171.6(ABCC6):c.259G>A (p.Val87Met)
|
rs1021031399
|
0.00004
|
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp)
|
rs756768329
|
0.00004
|
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala)
|
rs780276741
|
0.00004
|
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)
|
rs63749794
|
0.00004
|
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)
|
rs28939701
|
0.00004
|
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile)
|
rs147794514
|
0.00004
|
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg)
|
rs760376992
|
0.00004
|
NM_001171.6(ABCC6):c.3870C>T (p.His1290=)
|
rs760304927
|
0.00004
|
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met)
|
rs371122482
|
0.00004
|
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)
|
rs67791546
|
0.00004
|
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met)
|
rs531418668
|
0.00004
|
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His)
|
rs57288618
|
0.00004
|
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser)
|
rs63751279
|
0.00004
|
NM_006208.3(ENPP1):c.*1559G>T
|
rs551333973
|
0.00004
|
NM_006208.3(ENPP1):c.*1716G>A
|
rs969372935
|
0.00004
|
NM_006208.3(ENPP1):c.*3126C>T
|
rs886061078
|
0.00004
|
NM_006208.3(ENPP1):c.*4571G>C
|
rs574559068
|
0.00004
|
NM_006208.3(ENPP1):c.*4641A>G
|
rs545401301
|
0.00004
|
NM_006208.3(ENPP1):c.21G>T (p.Ala7=)
|
rs886061063
|
0.00004
|
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys)
|
rs137853273
|
0.00004
|
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)
|
rs367759638
|
0.00004
|
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala)
|
rs754251347
|
0.00004
|
NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser)
|
rs2273411
|
0.00004
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys)
|
rs770532500
|
0.00003
|
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln)
|
rs761847996
|
0.00003
|
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser)
|
rs72653774
|
0.00003
|
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=)
|
rs767365625
|
0.00003
|
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del)
|
rs72664230
|
0.00003
|
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala)
|
rs72657693
|
0.00003
|
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)
|
rs63751001
|
0.00003
|
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)
|
rs63750402
|
0.00003
|
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=)
|
rs375741855
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met)
|
rs142505247
|
0.00003
|
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)
|
rs63750622
|
0.00003
|
NM_001171.6(ABCC6):c.4042-15G>A
|
rs371489110
|
0.00003
|
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs)
|
rs72664237
|
0.00003
|
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg)
|
rs1209940471
|
0.00003
|
NM_006208.3(ENPP1):c.*3450T>C
|
rs886061081
|
0.00003
|
NM_006208.3(ENPP1):c.*3919C>T
|
rs866475719
|
0.00003
|
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=)
|
rs140470927
|
0.00003
|
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met)
|
rs762065573
|
0.00003
|
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro)
|
rs944015667
|
0.00002
|
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu)
|
rs749017755
|
0.00002
|
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile)
|
rs190761354
|
0.00002
|
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr)
|
rs769753486
|
0.00002
|
NM_001171.6(ABCC6):c.2248-2_2248-1del
|
rs111113624
|
0.00002
|
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val)
|
rs72653791
|
0.00002
|
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met)
|
rs72653795
|
0.00002
|
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=)
|
rs373335815
|
0.00002
|
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln)
|
rs572351621
|
0.00002
|
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)
|
rs63750457
|
0.00002
|
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp)
|
rs146284800
|
0.00002
|
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)
|
rs63751215
|
0.00002
|
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met)
|
rs141731889
|
0.00002
|
NM_001171.6(ABCC6):c.3882+5G>A
|
rs774245200
|
0.00002
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
NM_006208.3(ENPP1):c.1274-5C>T
|
rs751500820
|
0.00002
|
NM_006208.3(ENPP1):c.157A>G (p.Met53Val)
|
rs1328207700
|
0.00002
|
NM_006208.3(ENPP1):c.2230+13C>T
|
rs537428242
|
0.00002
|
NM_006208.3(ENPP1):c.313+15G>T
|
rs770352358
|
0.00002
|
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp)
|
rs72653761
|
0.00001
|
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe)
|
rs747386965
|
0.00001
|
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met)
|
rs200582171
|
0.00001
|
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val)
|
rs746428588
|
0.00001
|
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val)
|
rs940803158
|
0.00001
|
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala)
|
rs914084997
|
0.00001
|
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr)
|
rs143092672
|
0.00001
|
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys)
|
rs527236047
|
0.00001
|
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=)
|
rs747341864
|
0.00001
|
NM_001171.6(ABCC6):c.2079G>A (p.Val693=)
|
rs189252048
|
0.00001
|
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=)
|
rs199913903
|
0.00001
|
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met)
|
rs143731811
|
0.00001
|
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly)
|
rs1252723064
|
0.00001
|
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys)
|
rs866196138
|
0.00001
|
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=)
|
rs60990156
|
0.00001
|
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln)
|
rs201884545
|
0.00001
|
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe)
|
rs987609654
|
0.00001
|
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro)
|
rs72657691
|
0.00001
|
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg)
|
rs529676674
|
0.00001
|
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile)
|
rs63750758
|
0.00001
|
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=)
|
rs772396564
|
0.00001
|
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=)
|
rs746045818
|
0.00001
|
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu)
|
rs142128765
|
0.00001
|
NM_001171.6(ABCC6):c.3507-14G>A
|
rs1006071217
|
0.00001
|
NM_001171.6(ABCC6):c.3507-1G>A
|
rs72664210
|
0.00001
|
NM_001171.6(ABCC6):c.3735+10G>A
|
rs372710375
|
0.00001
|
NM_001171.6(ABCC6):c.3736-1G>A
|
rs63750273
|
0.00001
|
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His)
|
rs576328904
|
0.00001
|
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)
|
rs72653749
|
0.00001
|
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=)
|
rs61294695
|
0.00001
|
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly)
|
rs929166866
|
0.00001
|
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys)
|
rs72547524
|
0.00001
|
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys)
|
rs1030872147
|
0.00001
|
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=)
|
rs745761393
|
0.00001
|
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val)
|
rs561266462
|
0.00001
|
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp)
|
rs199645691
|
0.00001
|
NM_006208.3(ENPP1):c.*120C>T
|
rs1435986196
|
0.00001
|
NM_006208.3(ENPP1):c.*1257del
|
rs886061072
|
0.00001
|
NM_006208.3(ENPP1):c.*1795A>T
|
rs886061074
|
0.00001
|
NM_006208.3(ENPP1):c.*1940T>G
|
rs1752128155
|
0.00001
|
NM_006208.3(ENPP1):c.*2130C>T
|
rs886061076
|
0.00001
|
NM_006208.3(ENPP1):c.*3885C>T
|
rs1223923900
|
0.00001
|
NM_006208.3(ENPP1):c.*4047C>T
|
rs1013601584
|
0.00001
|
NM_006208.3(ENPP1):c.*4332C>T
|
rs1446084490
|
0.00001
|
NM_006208.3(ENPP1):c.*4369C>T
|
rs1300407002
|
0.00001
|
NM_006208.3(ENPP1):c.*459G>T
|
rs886061068
|
0.00001
|
NM_006208.3(ENPP1):c.*536T>C
|
rs184796209
|
0.00001
|
NM_006208.3(ENPP1):c.*671T>C
|
rs1022965766
|
0.00001
|
NM_006208.3(ENPP1):c.*888C>T
|
rs886061069
|
0.00001
|
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn)
|
rs886061066
|
0.00001
|
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)
|
rs373044722
|
0.00001
|
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys)
|
rs753071702
|
0.00001
|
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=)
|
rs1452598874
|
0.00001
|
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe)
|
rs121918024
|
0.00001
|
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)
|
rs777367269
|
0.00001
|
NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn)
|
rs748798632
|
0.00001
|
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=)
|
rs548504035
|
0.00001
|
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser)
|
rs1475050245
|
0.00001
|
NM_006208.3(ENPP1):c.2311+8A>G
|
rs760047831
|
0.00001
|
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)
|
rs1782357136
|
0.00001
|
NM_006208.3(ENPP1):c.2608-1G>A
|
rs149828062
|
0.00001
|
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser)
|
rs1481378734
|
0.00001
|
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)
|
rs766617922
|
0.00001
|
NM_006208.3(ENPP1):c.795+12A>G
|
rs1781980876
|
0.00001
|
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His)
|
rs17847050
|
0.00001
|
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
|
|
|
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
|
|
|
NC_000006.12:g.131688637_132215008del
|
|
|
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter)
|
rs72650698
|
|
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)
|
rs72653759
|
|
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val)
|
rs115663615
|
|
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser)
|
rs2152278438
|
|
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg)
|
rs2048112873
|
|
NM_001171.6(ABCC6):c.1338+20C>G
|
rs12929920
|
|
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=)
|
rs141309818
|
|
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser)
|
rs2047802820
|
|
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro)
|
rs1555514895
|
|
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr)
|
rs143588929
|
|
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser)
|
rs143588929
|
|
NM_001171.6(ABCC6):c.1674del (p.Glu559fs)
|
rs1313008538
|
|
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr)
|
rs72653775
|
|
NM_001171.6(ABCC6):c.1867+60A>G
|
rs8056103
|
|
NM_001171.6(ABCC6):c.1868-57G>A
|
rs41278182
|
|
NM_001171.6(ABCC6):c.1868-85del
|
rs55685226
|
|
NM_001171.6(ABCC6):c.1999del (p.Ala667fs)
|
rs72664227
|
|
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu)
|
rs893859633
|
|
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met)
|
rs200800189
|
|
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu)
|
rs200800189
|
|
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg)
|
rs140013237
|
|
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter)
|
rs72650701
|
|
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr)
|
rs2856597
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001171.6(ABCC6):c.2666+134del
|
rs11295432
|
|
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys)
|
rs775243858
|
|
NM_001171.6(ABCC6):c.2836del (p.Leu946fs)
|
rs2047000316
|
|
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu)
|
rs758648156
|
|
NM_001171.6(ABCC6):c.345+12T>C
|
rs759993107
|
|
NM_001171.6(ABCC6):c.3506+83A>C
|
rs3213473
|
|
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn)
|
rs940876455
|
|
NM_001171.6(ABCC6):c.3735+55del
|
rs56822940
|
|
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys)
|
rs879956688
|
|
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile)
|
rs143212758
|
|
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs)
|
rs72664220
|
|
NM_001171.6(ABCC6):c.3883-5G>A
|
rs72664213
|
|
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=)
|
rs201812902
|
|
NM_001171.6(ABCC6):c.3952G>A (p.Ala1318Thr)
|
rs2046496590
|
|
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs)
|
rs1567465730
|
|
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)
|
rs387906859
|
|
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln)
|
rs63750135
|
|
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu)
|
rs63750135
|
|
NM_001171.6(ABCC6):c.450dup (p.Ala151fs)
|
rs387906860
|
|
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val)
|
rs2606921
|
|
NM_001171.6(ABCC6):c.998+2_998+3del
|
rs72664204
|
|
NM_006208.3(ENPP1):c.*103A>G
|
rs934807026
|
|
NM_006208.3(ENPP1):c.*121G>C
|
rs11964389
|
|
NM_006208.3(ENPP1):c.*1236G>T
|
rs11154649
|
|
NM_006208.3(ENPP1):c.*1236_*1238del
|
rs138970138
|
|
NM_006208.3(ENPP1):c.*1256dup
|
rs34545497
|
|
NM_006208.3(ENPP1):c.*1290T>A
|
rs886061073
|
|
NM_006208.3(ENPP1):c.*1299C>T
|
rs11965061
|
|
NM_006208.3(ENPP1):c.*150G>A
|
rs571779819
|
|
NM_006208.3(ENPP1):c.*1618A>G
|
rs1782479055
|
|
NM_006208.3(ENPP1):c.*1864T>C
|
rs1782482761
|
|
NM_006208.3(ENPP1):c.*2073C>G
|
rs541153028
|
|
NM_006208.3(ENPP1):c.*2129T>C
|
rs886061075
|
|
NM_006208.3(ENPP1):c.*2543T>G
|
rs1782491483
|
|
NM_006208.3(ENPP1):c.*2835_*2837del
|
rs143885750
|
|
NM_006208.3(ENPP1):c.*3242TTCTT[4]
|
rs3035998
|
|
NM_006208.3(ENPP1):c.*3468del
|
rs564304453
|
|
NM_006208.3(ENPP1):c.*3600G>T
|
rs573224206
|
|
NM_006208.3(ENPP1):c.*3615dup
|
rs112718541
|
|
NM_006208.3(ENPP1):c.*38G>A
|
rs191654371
|
|
NM_006208.3(ENPP1):c.*392G>A
|
rs1782461266
|
|
NM_006208.3(ENPP1):c.*4014C>A
|
rs774267525
|
|
NM_006208.3(ENPP1):c.*4287G>A
|
rs1782525012
|
|
NM_006208.3(ENPP1):c.*4507A>G
|
rs1017283996
|
|
NM_006208.3(ENPP1):c.*4620G>T
|
rs1782530336
|
|
NM_006208.3(ENPP1):c.*516T>C
|
rs1782462977
|
|
NM_006208.3(ENPP1):c.*577G>A
|
rs891388334
|
|
NM_006208.3(ENPP1):c.*772A>G
|
rs34608785
|
|
NM_006208.3(ENPP1):c.*772A>T
|
rs34608785
|
|
NM_006208.3(ENPP1):c.*848T>C
|
rs1782467588
|
|
NM_006208.3(ENPP1):c.*902G>A
|
rs572823916
|
|
NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala)
|
rs1562523328
|
|
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)
|
rs121918025
|
|
NM_006208.3(ENPP1):c.1026-59_1026-10del
|
rs2114706449
|
|
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg)
|
rs751147622
|
|
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs)
|
rs1554203715
|
|
NM_006208.3(ENPP1):c.1094del (p.Pro365fs)
|
rs2114706946
|
|
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn)
|
rs941474086
|
|
NM_006208.3(ENPP1):c.1106C>T (p.Thr369Ile)
|
rs1446027518
|
|
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe)
|
rs121918026
|
|
NM_006208.3(ENPP1):c.1273+2T>C
|
rs2114710332
|
|
NM_006208.3(ENPP1):c.1437+3_1437+6del
|
rs747843796
|
|
NM_006208.3(ENPP1):c.1437+9_1437+12del
|
rs376640801
|
|
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His)
|
rs387906673
|
|
NM_006208.3(ENPP1):c.165G>A (p.Val55=)
|
rs768034745
|
|
NM_006208.3(ENPP1):c.1724-5T>G
|
rs369585711
|
|
NM_006208.3(ENPP1):c.1946-14T>C
|
rs886061067
|
|
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs)
|
rs2114643507
|
|
NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter)
|
rs1167413684
|
|
NM_006208.3(ENPP1):c.2101-11del
|
rs397832689
|
|
NM_006208.3(ENPP1):c.2101-2A>T
|
rs1585841844
|
|
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr)
|
rs748292010
|
|
NM_006208.3(ENPP1):c.2192del (p.Asn731fs)
|
rs2114726975
|
|
NM_006208.3(ENPP1):c.2230+1G>A
|
|
|
NM_006208.3(ENPP1):c.2230+5G>A
|
|
|
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter)
|
rs2114727013
|
|
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)
|
rs144099489
|
|
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu)
|
rs1195604374
|
|
NM_006208.3(ENPP1):c.2300del (p.Gln767fs)
|
rs2114728448
|
|
NM_006208.3(ENPP1):c.2444+10T>C
|
rs947631280
|
|
NM_006208.3(ENPP1):c.2664del (p.Ile889fs)
|
rs2114737043
|
|
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter)
|
rs121918023
|
|
NM_006208.3(ENPP1):c.26dup (p.Gly10fs)
|
rs1470739291
|
|
NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter)
|
rs751725130
|
|
NM_006208.3(ENPP1):c.2746del (p.Thr916fs)
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9dup
|
rs377330284
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTT
|
rs879243445
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT
|
rs879243445
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT
|
rs879243445
|
|
NM_006208.3(ENPP1):c.313+9GT[16]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[17]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[18]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[22]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9_313+10insGGTG
|
rs536901634
|
|
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe)
|
rs763922486
|
|
NM_006208.3(ENPP1):c.332G>A (p.Arg111His)
|
rs749866787
|
|
NM_006208.3(ENPP1):c.484A>G (p.Ser162Gly)
|
rs1781876170
|
|
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter)
|
rs1805101
|
|
NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg)
|
rs1781877793
|
|
NM_006208.3(ENPP1):c.570G>T (p.Trp190Cys)
|
rs2114693547
|
|
NM_006208.3(ENPP1):c.574del (p.Glu192fs)
|
rs1234826768
|
|
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser)
|
rs752171315
|
|
NM_006208.3(ENPP1):c.665C>A (p.Ala222Glu)
|
rs2114696253
|
|
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)
|
rs267606784
|
|
NM_006208.3(ENPP1):c.795+1G>A
|
rs753851892
|
|
NM_006208.3(ENPP1):c.796G>A (p.Gly266Arg)
|
rs2114702042
|
|
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)
|
rs121908248
|
|
NM_006208.3(ENPP1):c.878_879del (p.Lys293fs)
|
rs1401810953
|
|
NM_006208.3(ENPP1):c.915+1G>A
|
rs2114702198
|
|
NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del
|
|
|