|
NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr)
|
rs222581
|
0.99879
|
|
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=)
|
rs319438
|
0.99384
|
|
NM_001374385.1(ATP8B1):c.1430-89C>T
|
rs319459
|
0.99232
|
|
NM_001374385.1(ATP8B1):c.699-52C>T
|
rs319442
|
0.99086
|
|
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=)
|
rs319443
|
0.99084
|
|
NM_000443.4(ABCB4):c.1357-40A>G
|
rs31675
|
0.92657
|
|
NM_000443.4(ABCB4):c.2211+16C>T
|
rs31668
|
0.92183
|
|
NM_000443.4(ABCB4):c.3487-16T>C
|
rs31653
|
0.91450
|
|
NM_004817.4(TJP2):c.239+19T>C
|
rs2498417
|
0.90366
|
|
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)
|
rs2309428
|
0.77489
|
|
NM_003742.4(ABCB11):c.2344-17T>C
|
rs853789
|
0.75457
|
|
NM_000443.4(ABCB4):c.2211+72T>C
|
rs31667
|
0.75307
|
|
NM_003742.4(ABCB11):c.909-15A>G
|
rs2287618
|
0.72659
|
|
NM_003742.4(ABCB11):c.*236A>G
|
rs473351
|
0.61693
|
|
NM_003742.4(ABCB11):c.1434+70C>T
|
rs2287623
|
0.57088
|
|
NM_003742.4(ABCB11):c.1638+32T>C
|
rs2241340
|
0.57009
|
|
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala)
|
rs2287622
|
0.57004
|
|
NM_003742.4(ABCB11):c.1638+80C>T
|
rs2241341
|
0.56946
|
|
NM_003742.4(ABCB11):c.*368G>A
|
rs495714
|
0.47735
|
|
NM_003742.4(ABCB11):c.*420A>G
|
rs496550
|
0.47337
|
|
NM_003742.4(ABCB11):c.2344-157T>G
|
rs860510
|
0.47138
|
|
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=)
|
rs497692
|
0.46166
|
|
NM_003742.4(ABCB11):c.2179-17C>A
|
rs853772
|
0.45482
|
|
NM_001374385.1(ATP8B1):c.698+20C>T
|
rs319439
|
0.42536
|
|
NM_000443.4(ABCB4):c.504C>T (p.Asn168=)
|
rs1202283
|
0.41352
|
|
NM_001374385.1(ATP8B1):c.1932+44C>T
|
rs317838
|
0.39951
|
|
NM_004817.4(TJP2):c.2992-19G>A
|
rs2282335
|
0.39706
|
|
NM_001374385.1(ATP8B1):c.-106C>T
|
rs1848701
|
0.38084
|
|
NM_001374385.1(ATP8B1):c.*1509A>G
|
rs1968274
|
0.25162
|
|
NM_000443.4(ABCB4):c.175C>T (p.Leu59=)
|
rs2302387
|
0.23630
|
|
NM_004817.4(TJP2):c.2715C>T (p.Thr905=)
|
rs2282336
|
0.22650
|
|
NM_004817.4(TJP2):c.2727G>A (p.Ala909=)
|
rs2095876
|
0.22643
|
|
NM_004817.4(TJP2):c.2180-34G>A
|
rs2309421
|
0.22518
|
|
NM_000443.4(ABCB4):c.711A>T (p.Ile237=)
|
rs2109505
|
0.22260
|
|
NM_001374385.1(ATP8B1):c.*1254T>C
|
rs17685852
|
0.20609
|
|
NM_001374385.1(ATP8B1):c.*1937T>A
|
rs1129621
|
0.20604
|
|
NM_001374385.1(ATP8B1):c.3532-15C>T
|
rs12958967
|
0.19806
|
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
|
NM_003742.4(ABCB11):c.99-18T>C
|
rs4148776
|
0.13692
|
|
NM_003742.4(ABCB11):c.908+108A>G
|
rs4148780
|
0.13132
|
|
NM_001374385.1(ATP8B1):c.3531+8G>T
|
rs34027711
|
0.12129
|
|
NM_001374385.1(ATP8B1):c.*1723G>A
|
rs11543269
|
0.09080
|
|
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)
|
rs12968116
|
0.08072
|
|
NM_001374385.1(ATP8B1):c.*283G>A
|
rs11152024
|
0.07759
|
|
NM_003742.4(ABCB11):c.1309-93G>A
|
rs55669065
|
0.07356
|
|
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val)
|
rs11568364
|
0.06201
|
|
NM_003742.4(ABCB11):c.402C>T (p.Ile134=)
|
rs11568377
|
0.05330
|
|
NM_003742.4(ABCB11):c.270T>C (p.Phe90=)
|
rs4148777
|
0.05096
|
|
NM_032830.3(UTP4):c.714C>T (p.Asp238=)
|
rs2288036
|
0.04782
|
|
NM_032830.3(UTP4):c.1906C>T (p.Arg636Cys)
|
rs61185783
|
0.03200
|
|
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=)
|
rs11568359
|
0.02682
|
|
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=)
|
rs11568373
|
0.02633
|
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
|
NM_003742.4(ABCB11):c.389+8G>A
|
rs11568363
|
0.02444
|
|
NM_032830.3(UTP4):c.*68A>G
|
rs74886619
|
0.01911
|
|
NM_001374385.1(ATP8B1):c.3016-9C>A
|
rs34729241
|
0.01910
|
|
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly)
|
rs16951438
|
0.01776
|
|
NM_000443.4(ABCB4):c.147C>T (p.Ser49=)
|
rs8187789
|
0.01759
|
|
NM_000443.4(ABCB4):c.459T>C (p.Phe153=)
|
rs2230027
|
0.01640
|
|
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=)
|
rs57509552
|
0.01590
|
|
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn)
|
rs33963153
|
0.01293
|
|
NM_000443.4(ABCB4):c.-6-4T>C
|
rs8187785
|
0.01231
|
|
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=)
|
rs2287616
|
0.01137
|
|
NM_003742.4(ABCB11):c.108T>C (p.Asp36=)
|
rs3815675
|
0.01118
|
|
NM_003742.4(ABCB11):c.77-17del
|
rs11568375
|
0.01069
|
|
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=)
|
rs8187802
|
0.01001
|
|
NM_001374385.1(ATP8B1):c.*11C>T
|
rs34255016
|
0.00974
|
|
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)
|
rs1521808
|
0.00943
|
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
|
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)
|
rs8187797
|
0.00888
|
|
NM_001966.4(EHHADH):c.910+7C>A
|
rs17283799
|
0.00874
|
|
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu)
|
rs75107667
|
0.00802
|
|
NM_001374385.1(ATP8B1):c.*888C>G
|
rs149436273
|
0.00683
|
|
NM_032830.3(UTP4):c.1257T>C (p.Asn419=)
|
rs149792921
|
0.00658
|
|
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)
|
rs146599962
|
0.00657
|
|
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=)
|
rs113099601
|
0.00643
|
|
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=)
|
rs61737443
|
0.00628
|
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
|
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=)
|
rs35757087
|
0.00529
|
|
NM_032830.3(UTP4):c.1313G>A (p.Arg438His)
|
rs8056684
|
0.00522
|
|
NM_032830.3(UTP4):c.270G>A (p.Ala90=)
|
rs16958656
|
0.00501
|
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
|
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)
|
rs45624933
|
0.00490
|
|
NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=)
|
rs200559863
|
0.00470
|
|
NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln)
|
rs35623014
|
0.00451
|
|
NM_001374385.1(ATP8B1):c.-25-6T>C
|
rs35671095
|
0.00443
|
|
NM_001374385.1(ATP8B1):c.*1940A>G
|
rs117693241
|
0.00436
|
|
NM_001374385.1(ATP8B1):c.-51C>T
|
rs150844949
|
0.00431
|
|
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
|
NM_032830.3(UTP4):c.615C>T (p.Ser205=)
|
rs144266389
|
0.00376
|
|
NM_001374385.1(ATP8B1):c.*827T>A
|
rs182819607
|
0.00356
|
|
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=)
|
rs34623939
|
0.00337
|
|
NM_032830.3(UTP4):c.1164+8A>G
|
rs112053857
|
0.00330
|
|
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn)
|
rs34018300
|
0.00328
|
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
|
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=)
|
rs45574932
|
0.00325
|
|
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)
|
rs145720664
|
0.00273
|
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
|
NM_032830.3(UTP4):c.302G>T (p.Gly101Val)
|
rs144369314
|
0.00227
|
|
NM_003742.4(ABCB11):c.*237T>C
|
rs548624200
|
0.00214
|
|
NM_001374385.1(ATP8B1):c.3016-19A>G
|
rs139202277
|
0.00210
|
|
NM_001374385.1(ATP8B1):c.*734A>T
|
rs528645513
|
0.00206
|
|
NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu)
|
rs139632666
|
0.00202
|
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
|
NM_000443.4(ABCB4):c.-1G>A
|
rs45449704
|
0.00181
|
|
NM_000443.4(ABCB4):c.1893+6T>C
|
rs8187798
|
0.00175
|
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
|
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)
|
rs119465999
|
0.00150
|
|
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)
|
rs137973298
|
0.00146
|
|
NM_003742.4(ABCB11):c.156G>A (p.Arg52=)
|
rs140587295
|
0.00145
|
|
NM_003742.4(ABCB11):c.1791G>T (p.Val597=)
|
rs11568371
|
0.00145
|
|
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
|
rs2230029
|
0.00143
|
|
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=)
|
rs117182648
|
0.00137
|
|
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=)
|
rs2271771
|
0.00137
|
|
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val)
|
rs3745078
|
0.00135
|
|
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln)
|
rs3745079
|
0.00124
|
|
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)
|
rs142794414
|
0.00123
|
|
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr)
|
rs35470719
|
0.00121
|
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
|
NM_003742.4(ABCB11):c.*440G>A
|
rs79130028
|
0.00112
|
|
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
|
rs145750280
|
0.00111
|
|
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)
|
rs111482608
|
0.00107
|
|
NM_032830.3(UTP4):c.1183T>C (p.Cys395Arg)
|
rs138998503
|
0.00106
|
|
NM_001374385.1(ATP8B1):c.2931+14G>A
|
rs34451179
|
0.00101
|
|
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)
|
rs192375476
|
0.00101
|
|
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)
|
rs11568360
|
0.00098
|
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
|
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)
|
rs11568362
|
0.00085
|
|
NM_032830.3(UTP4):c.1083A>G (p.Gly361=)
|
rs34747774
|
0.00084
|
|
NM_001374385.1(ATP8B1):c.*503G>T
|
rs187993447
|
0.00079
|
|
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
|
rs150572999
|
0.00079
|
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
|
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)
|
rs8187788
|
0.00074
|
|
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)
|
rs138773456
|
0.00073
|
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
|
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)
|
rs8187791
|
0.00068
|
|
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His)
|
rs147642236
|
0.00063
|
|
NM_032830.3(UTP4):c.1376G>A (p.Gly459Glu)
|
rs141398922
|
0.00056
|
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
|
NM_032830.3(UTP4):c.1788C>T (p.Ile596=)
|
rs75998507
|
0.00051
|
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00050
|
|
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)
|
rs200709879
|
0.00046
|
|
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)
|
rs139042803
|
0.00044
|
|
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)
|
rs141862495
|
0.00040
|
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
|
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)
|
rs148052192
|
0.00039
|
|
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)
|
rs144848376
|
0.00039
|
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
|
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)
|
rs372382608
|
0.00034
|
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
|
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)
|
rs377170187
|
0.00033
|
|
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)
|
rs376663560
|
0.00033
|
|
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)
|
rs45476795
|
0.00032
|
|
NM_001374385.1(ATP8B1):c.*735T>A
|
rs561633356
|
0.00032
|
|
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)
|
rs142231389
|
0.00032
|
|
NM_001374385.1(ATP8B1):c.555-3T>C
|
rs367948617
|
0.00032
|
|
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)
|
rs183390670
|
0.00032
|
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
|
NM_001374385.1(ATP8B1):c.*968T>A
|
rs886054002
|
0.00029
|
|
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)
|
rs118109635
|
0.00029
|
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
|
NM_003742.4(ABCB11):c.1434+14A>G
|
rs201816834
|
0.00028
|
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
|
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val)
|
rs138943609
|
0.00026
|
|
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=)
|
rs140592811
|
0.00025
|
|
NM_001374385.1(ATP8B1):c.*1945C>T
|
rs779489096
|
0.00025
|
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
|
NM_032830.3(UTP4):c.1287+6T>C
|
rs201299923
|
0.00025
|
|
NM_001374385.1(ATP8B1):c.*296C>T
|
rs553050447
|
0.00024
|
|
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)
|
rs200148505
|
0.00024
|
|
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=)
|
rs369538863
|
0.00024
|
|
NM_032830.3(UTP4):c.1287+4A>G
|
rs201384904
|
0.00024
|
|
NM_032830.3(UTP4):c.846G>A (p.Pro282=)
|
rs150182351
|
0.00024
|
|
NM_003612.5(SEMA7A):c.442C>T (p.Arg148Trp)
|
rs200895370
|
0.00023
|
|
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)
|
rs200870815
|
0.00023
|
|
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)
|
rs139276234
|
0.00022
|
|
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser)
|
rs201240844
|
0.00021
|
|
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met)
|
rs373122168
|
0.00019
|
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
|
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu)
|
rs199662246
|
0.00018
|
|
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln)
|
rs144398632
|
0.00018
|
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
|
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)
|
rs199514789
|
0.00017
|
|
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)
|
rs199504845
|
0.00016
|
|
NM_001374385.1(ATP8B1):c.*242T>C
|
rs757204179
|
0.00016
|
|
NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr)
|
rs202100663
|
0.00016
|
|
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys)
|
rs756725213
|
0.00015
|
|
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln)
|
rs200174512
|
0.00015
|
|
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)
|
rs139636763
|
0.00015
|
|
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val)
|
rs8187811
|
0.00014
|
|
NM_001374385.1(ATP8B1):c.*1083T>C
|
rs138676107
|
0.00014
|
|
NM_001374385.1(ATP8B1):c.*340C>T
|
rs533724646
|
0.00014
|
|
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=)
|
rs376258647
|
0.00014
|
|
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)
|
rs201366118
|
0.00014
|
|
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr)
|
rs199514707
|
0.00013
|
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
|
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)
|
rs72549401
|
0.00013
|
|
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)
|
rs200857579
|
0.00013
|
|
NM_001374385.1(ATP8B1):c.*1676G>A
|
rs932274962
|
0.00012
|
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
|
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)
|
rs539087982
|
0.00012
|
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
|
NM_001374385.1(ATP8B1):c.*426G>A
|
rs192231911
|
0.00011
|
|
NM_003742.4(ABCB11):c.1638+6C>G
|
rs886055067
|
0.00011
|
|
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)
|
rs371965391
|
0.00011
|
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
|
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
|
NM_001374385.1(ATP8B1):c.2261C>T (p.Thr754Ile)
|
rs201392345
|
0.00010
|
|
NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln)
|
rs568134011
|
0.00010
|
|
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=)
|
rs374701109
|
0.00010
|
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
|
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=)
|
rs199974713
|
0.00010
|
|
NM_032830.3(UTP4):c.1165-7T>C
|
rs200957784
|
0.00010
|
|
NM_032830.3(UTP4):c.1444+6A>C
|
rs201088638
|
0.00010
|
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
|
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His)
|
rs532332220
|
0.00009
|
|
NM_001374385.1(ATP8B1):c.*1133A>G
|
rs997437548
|
0.00009
|
|
NM_001374385.1(ATP8B1):c.*676G>A
|
rs959189849
|
0.00009
|
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
|
NM_003742.4(ABCB11):c.*316G>A
|
rs560085646
|
0.00009
|
|
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln)
|
rs11568370
|
0.00009
|
|
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)
|
rs372757355
|
0.00009
|
|
NM_032830.3(UTP4):c.1451T>G (p.Val484Gly)
|
rs199824083
|
0.00009
|
|
NM_032830.3(UTP4):c.1536C>T (p.Asn512=)
|
rs144493973
|
0.00009
|
|
NM_032830.3(UTP4):c.1904G>A (p.Arg635Lys)
|
rs761295812
|
0.00009
|
|
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)
|
rs1014304470
|
0.00008
|
|
NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys)
|
rs150295715
|
0.00007
|
|
NM_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val)
|
rs369553314
|
0.00007
|
|
NM_001374385.1(ATP8B1):c.26C>T (p.Thr9Met)
|
rs150268416
|
0.00007
|
|
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val)
|
rs372886308
|
0.00007
|
|
NM_004817.4(TJP2):c.3407+3A>G
|
rs727505291
|
0.00007
|
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
|
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=)
|
rs545534537
|
0.00006
|
|
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=)
|
rs376825608
|
0.00006
|
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00006
|
|
NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)
|
rs199791850
|
0.00006
|
|
NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=)
|
rs776385207
|
0.00006
|
|
NM_001374385.1(ATP8B1):c.310G>A (p.Ala104Thr)
|
rs756439394
|
0.00006
|
|
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)
|
rs111033609
|
0.00006
|
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
0.00006
|
|
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met)
|
rs145056464
|
0.00005
|
|
NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=)
|
rs747139348
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.*1524T>C
|
rs886054000
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr)
|
rs372806297
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.2286-2A>G
|
rs377132123
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr)
|
rs146405857
|
0.00005
|
|
NM_003742.4(ABCB11):c.282C>T (p.Asp94=)
|
rs775605577
|
0.00005
|
|
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
|
NM_001080467.3(MYO5B):c.1201C>T (p.Arg401Cys)
|
rs761492029
|
0.00004
|
|
NM_001080467.3(MYO5B):c.2995C>T (p.Arg999Cys)
|
rs755870645
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.*1553T>G
|
rs559805305
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.*776G>A
|
rs886054003
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.*799G>A
|
rs376678355
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=)
|
rs35969033
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)
|
rs755385749
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.14G>A (p.Arg5Lys)
|
rs960179853
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.164G>A (p.Arg55Gln)
|
rs768114205
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)
|
rs35238397
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=)
|
rs201150730
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)
|
rs148715351
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)
|
rs374340059
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.3401-13A>G
|
rs747437391
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met)
|
rs369011228
|
0.00004
|
|
NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp)
|
rs951486880
|
0.00004
|
|
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp)
|
rs553076953
|
0.00004
|
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
|
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)
|
rs369671177
|
0.00004
|
|
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)
|
rs746223152
|
0.00004
|
|
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)
|
rs142684074
|
0.00004
|
|
NM_032830.3(UTP4):c.*67A>C
|
rs1015958388
|
0.00004
|
|
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met)
|
rs571555115
|
0.00003
|
|
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser)
|
rs1037196284
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.*1095A>T
|
rs886054001
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.*132C>G
|
rs745786597
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.*531C>T
|
rs758654293
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.-65C>T
|
rs886054016
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.1156T>G (p.Phe386Val)
|
rs767126171
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=)
|
rs370484798
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)
|
rs121909098
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile)
|
rs200648620
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.2939A>G (p.Tyr980Cys)
|
rs886054010
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=)
|
rs754912569
|
0.00003
|
|
NM_003742.4(ABCB11):c.*252T>A
|
rs886055060
|
0.00003
|
|
NM_003742.4(ABCB11):c.-64A>G
|
rs1036640978
|
0.00003
|
|
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)
|
rs369132677
|
0.00003
|
|
NM_003742.4(ABCB11):c.1198-7A>C
|
rs752532486
|
0.00003
|
|
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln)
|
rs371656014
|
0.00003
|
|
NM_003742.4(ABCB11):c.1639-4C>T
|
rs780324076
|
0.00003
|
|
NM_003742.4(ABCB11):c.1639-6A>G
|
rs751634104
|
0.00003
|
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
|
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)
|
rs776223452
|
0.00003
|
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
|
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser)
|
rs758339239
|
0.00003
|
|
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)
|
rs201144827
|
0.00003
|
|
NM_004817.4(TJP2):c.428T>C (p.Met143Thr)
|
rs1011824757
|
0.00003
|
|
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)
|
rs121918440
|
0.00002
|
|
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=)
|
rs886062459
|
0.00002
|
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
|
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile)
|
rs774347020
|
0.00002
|
|
NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val)
|
rs1215965232
|
0.00002
|
|
NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His)
|
rs530758620
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.*1403G>A
|
rs1277260486
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.*1629T>C
|
rs367994135
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.*1851G>C
|
rs1425339940
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.1029+5T>C
|
rs200663890
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)
|
rs144656719
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=)
|
rs375842507
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.854G>T (p.Ser285Ile)
|
rs754073606
|
0.00002
|
|
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln)
|
rs746948055
|
0.00002
|
|
NM_003742.4(ABCB11):c.-78C>T
|
rs746730049
|
0.00002
|
|
NM_003742.4(ABCB11):c.1435-11A>G
|
rs762147612
|
0.00002
|
|
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)
|
rs763526610
|
0.00002
|
|
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile)
|
rs886055066
|
0.00002
|
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
|
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)
|
rs199649780
|
0.00002
|
|
NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys)
|
rs772241929
|
0.00002
|
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
|
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)
|
rs866839234
|
0.00002
|
|
NM_003742.4(ABCB11):c.76+1G>A
|
rs1413569310
|
0.00002
|
|
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)
|
rs139314808
|
0.00002
|
|
NM_032830.3(UTP4):c.1610A>G (p.Asn537Ser)
|
rs138922775
|
0.00002
|
|
NM_032830.3(UTP4):c.531C>T (p.Ser177=)
|
rs370682701
|
0.00002
|
|
NM_032830.3(UTP4):c.57C>A (p.Ile19=)
|
rs141243868
|
0.00002
|
|
NM_032830.3(UTP4):c.635T>C (p.Val212Ala)
|
rs538321215
|
0.00002
|
|
NM_032830.3(UTP4):c.871C>T (p.Arg291Cys)
|
rs773025409
|
0.00002
|
|
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)
|
rs1554407511
|
0.00001
|
|
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=)
|
rs761918535
|
0.00001
|
|
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)
|
rs1458423947
|
0.00001
|
|
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)
|
rs1444056772
|
0.00001
|
|
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)
|
rs760153272
|
0.00001
|
|
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)
|
rs553616378
|
0.00001
|
|
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val)
|
rs367709575
|
0.00001
|
|
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=)
|
rs747255117
|
0.00001
|
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
|
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=)
|
rs763404399
|
0.00001
|
|
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=)
|
rs8187807
|
0.00001
|
|
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met)
|
rs754565782
|
0.00001
|
|
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp)
|
rs747453583
|
0.00001
|
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
|
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=)
|
rs370310867
|
0.00001
|
|
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg)
|
rs754770911
|
0.00001
|
|
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)
|
rs72552780
|
0.00001
|
|
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)
|
rs863225299
|
0.00001
|
|
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys)
|
rs757693457
|
0.00001
|
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
|
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu)
|
rs756070393
|
0.00001
|
|
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)
|
rs1348610360
|
0.00001
|
|
NM_001077268.2(ZFYVE19):c.314C>G (p.Ser105Ter)
|
rs769683740
|
0.00001
|
|
NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter)
|
rs753989803
|
0.00001
|
|
NM_001077268.2(ZFYVE19):c.547C>T (p.Arg183Ter)
|
rs771251472
|
0.00001
|
|
NM_001077268.2(ZFYVE19):c.667C>T (p.Arg223Ter)
|
rs375497733
|
0.00001
|
|
NM_001080467.3(MYO5B):c.1021C>T (p.Gln341Ter)
|
rs776708126
|
0.00001
|
|
NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser)
|
rs1315323909
|
0.00001
|
|
NM_001080467.3(MYO5B):c.1463T>C (p.Ile488Thr)
|
rs780547885
|
0.00001
|
|
NM_001080467.3(MYO5B):c.2395C>T (p.Arg799Trp)
|
rs575729461
|
0.00001
|
|
NM_001080467.3(MYO5B):c.274C>T (p.Arg92Cys)
|
rs372682296
|
0.00001
|
|
NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)
|
rs751511532
|
0.00001
|
|
NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)
|
rs1452792080
|
0.00001
|
|
NM_001371395.1(USP53):c.1687del (p.Ser563fs)
|
rs1263067327
|
0.00001
|
|
NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)
|
rs376368459
|
0.00001
|
|
NM_001371395.1(USP53):c.205C>T (p.Gln69Ter)
|
rs1748101805
|
0.00001
|
|
NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)
|
rs762702807
|
0.00001
|
|
NM_001371395.1(USP53):c.331C>T (p.Arg111Ter)
|
rs767460503
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.*1546A>C
|
rs1383423114
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.*506G>A
|
rs1054288138
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.*899C>T
|
rs887562438
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.-35C>A
|
rs886054015
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1029G>A (p.Thr343=)
|
rs765716200
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=)
|
rs1179570288
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1278C>T (p.Tyr426=)
|
rs780518569
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1429+14G>A
|
rs886054012
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)
|
rs1202682161
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)
|
rs121909105
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1819+10C>T
|
rs767885426
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1933-12T>A
|
rs758782679
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val)
|
rs1555689790
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)
|
rs515726137
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2097+2T>C
|
rs387906381
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.213dup (p.Lys72fs)
|
rs1913405478
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2322T>A (p.Asn774Lys)
|
rs757090822
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His)
|
rs745546266
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=)
|
rs199716374
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=)
|
rs758180192
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=)
|
rs761575295
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer)
|
rs752757689
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)
|
rs765889649
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2932-3C>A
|
rs1057523495
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2968G>A (p.Val990Met)
|
rs747325752
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=)
|
rs140005450
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.340G>C (p.Glu114Gln)
|
rs753142591
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.3481G>A (p.Val1161Ile)
|
rs771155047
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=)
|
rs778786114
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.3673C>A (p.Arg1225Ser)
|
rs774849132
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.394-7C>T
|
rs370252509
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.625C>A (p.Pro209Thr)
|
rs515726138
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.863T>C (p.Leu288Ser)
|
rs121909099
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.910G>A (p.Asp304Asn)
|
rs372749108
|
0.00001
|
|
NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter)
|
rs781206726
|
0.00001
|
|
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter)
|
rs1391374865
|
0.00001
|
|
NM_003742.4(ABCB11):c.*533C>A
|
rs886055058
|
0.00001
|
|
NM_003742.4(ABCB11):c.*640G>C
|
rs1351596156
|
0.00001
|
|
NM_003742.4(ABCB11):c.*670G>C
|
rs1469256614
|
0.00001
|
|
NM_003742.4(ABCB11):c.-97T>C
|
rs568098536
|
0.00001
|
|
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser)
|
rs750904445
|
0.00001
|
|
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)
|
rs764125510
|
0.00001
|
|
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr)
|
rs371091982
|
0.00001
|
|
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter)
|
rs774824767
|
0.00001
|
|
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)
|
rs369860506
|
0.00001
|
|
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)
|
rs72549402
|
0.00001
|
|
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=)
|
rs747864916
|
0.00001
|
|
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)
|
rs752043324
|
0.00001
|
|
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=)
|
rs765678675
|
0.00001
|
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
|
NM_003742.4(ABCB11):c.1553A>G (p.Tyr518Cys)
|
rs770750597
|
0.00001
|
|
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=)
|
rs1244153418
|
0.00001
|
|
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)
|
rs917981474
|
0.00001
|
|
NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly)
|
rs886044710
|
0.00001
|
|
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=)
|
rs750100537
|
0.00001
|
|
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=)
|
rs886055065
|
0.00001
|
|
NM_003742.4(ABCB11):c.2075+7T>A
|
rs768511849
|
0.00001
|
|
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=)
|
rs762791891
|
0.00001
|
|
NM_003742.4(ABCB11):c.2178+1G>A
|
rs1459273753
|
0.00001
|
|
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)
|
rs369865521
|
0.00001
|
|
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr)
|
rs372228971
|
0.00001
|
|
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)
|
rs1060499579
|
0.00001
|
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
|
NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp)
|
rs762571776
|
0.00001
|
|
NM_003742.4(ABCB11):c.2617G>A (p.Gly873Ser)
|
rs559849564
|
0.00001
|
|
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)
|
rs745557569
|
0.00001
|
|
NM_003742.4(ABCB11):c.2713T>C (p.Leu905=)
|
rs763006206
|
0.00001
|
|
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=)
|
rs947068240
|
0.00001
|
|
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)
|
rs756529333
|
0.00001
|
|
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)
|
rs752919965
|
0.00001
|
|
NM_003742.4(ABCB11):c.3057-12G>A
|
rs748204442
|
0.00001
|
|
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys)
|
rs72549398
|
0.00001
|
|
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)
|
rs72549397
|
0.00001
|
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
|
rs756220860
|
0.00001
|
|
NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe)
|
rs773929580
|
0.00001
|
|
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
|
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=)
|
rs1454008881
|
0.00001
|
|
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=)
|
rs772714766
|
0.00001
|
|
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala)
|
rs769192036
|
0.00001
|
|
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met)
|
rs780956310
|
0.00001
|
|
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)
|
rs758069019
|
0.00001
|
|
NM_003742.4(ABCB11):c.3766-10C>T
|
rs369104228
|
0.00001
|
|
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)
|
rs769983873
|
0.00001
|
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
|
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)
|
rs752992432
|
0.00001
|
|
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)
|
rs139641883
|
0.00001
|
|
NM_003742.4(ABCB11):c.611+1G>A
|
rs769134865
|
0.00001
|
|
NM_003742.4(ABCB11):c.681C>A (p.Thr227=)
|
rs1401834885
|
0.00001
|
|
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met)
|
rs886055069
|
0.00001
|
|
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg)
|
rs1694321895
|
0.00001
|
|
NM_004817.4(TJP2):c.1056+2T>C
|
rs1278244243
|
0.00001
|
|
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)
|
rs1060499649
|
0.00001
|
|
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg)
|
rs748191387
|
0.00001
|
|
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)
|
rs928915940
|
0.00001
|
|
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter)
|
rs748671901
|
0.00001
|
|
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro)
|
rs1563950539
|
0.00001
|
|
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter)
|
rs749009273
|
0.00001
|
|
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs)
|
rs1209349503
|
0.00001
|
|
NM_032830.3(UTP4):c.1002+15C>T
|
rs370811526
|
0.00001
|
|
NM_032830.3(UTP4):c.1249C>T (p.Arg417Trp)
|
rs772154514
|
0.00001
|
|
NM_032830.3(UTP4):c.1621C>T (p.Leu541Phe)
|
rs1031659078
|
0.00001
|
|
NM_032830.3(UTP4):c.1677G>T (p.Gln559His)
|
rs1963675848
|
0.00001
|
|
NM_032830.3(UTP4):c.739-6C>G
|
rs373200948
|
0.00001
|
|
NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter)
|
rs1388285232
|
0.00001
|
|
GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966)
|
|
|
|
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
|
|
|
|
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
|
|
|
|
NC_000018.10:g.(57688508_57691806)_(57803316_?)del
|
|
|
|
NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del
|
|
|
|
NC_000018.9:g.(?_55313657)_(55321308_55322425)del
|
|
|
|
NC_000018.9:g.55335906_55346620dup
|
|
|
|
NG_029843.1:g.23704_55438del
|
|
|
|
NM_000443.4(ABCB4):c.-18G>T
|
rs886062461
|
|
|
NM_000443.4(ABCB4):c.1005+3A>G
|
rs1811389784
|
|
|
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)
|
rs753104429
|
|
|
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu)
|
rs1813502867
|
|
|
NM_000443.4(ABCB4):c.1119+1G>T
|
rs1584750660
|
|
|
NM_000443.4(ABCB4):c.1119+5G>A
|
rs1584750653
|
|
|
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=)
|
rs1811153797
|
|
|
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
|
|
|
|
NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala)
|
|
|
|
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)
|
rs121918443
|
|
|
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)
|
rs863225298
|
|
|
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser)
|
rs863225298
|
|
|
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val)
|
rs1811115234
|
|
|
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)
|
rs1584747270
|
|
|
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)
|
rs387906528
|
|
|
NM_000443.4(ABCB4):c.135+26A>G
|
|
|
|
NM_000443.4(ABCB4):c.1357-2A>C
|
rs1584742063
|
|
|
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe)
|
rs1562976422
|
|
|
NM_000443.4(ABCB4):c.1429C>T (p.Gln477Ter)
|
|
|
|
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
|
|
|
|
NM_000443.4(ABCB4):c.1449CAC[1] (p.Thr485del)
|
|
|
|
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr)
|
rs1562976223
|
|
|
NM_000443.4(ABCB4):c.147C>A (p.Ser49=)
|
rs8187789
|
|
|
NM_000443.4(ABCB4):c.1528A>G (p.Asn510Asp)
|
|
|
|
NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)
|
|
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
|
NM_000443.4(ABCB4):c.1571C>A (p.Thr524Asn)
|
|
|
|
NM_000443.4(ABCB4):c.1634G>A (p.Arg545His)
|
|
|
|
NM_000443.4(ABCB4):c.1635del (p.Ala546fs)
|
|
|
|
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)
|
rs121918441
|
|
|
NM_000443.4(ABCB4):c.1678A>G (p.Thr560Ala)
|
|
|
|
NM_000443.4(ABCB4):c.1712del (p.Val571fs)
|
rs387906527
|
|
|
NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)
|
|
|
|
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)
|
rs148792791
|
|
|
NM_000443.4(ABCB4):c.1846G>C (p.Glu616Gln)
|
|
|
|
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu)
|
rs886062460
|
|
|
NM_000443.4(ABCB4):c.1906C>T (p.Gln636Ter)
|
|
|
|
NM_000443.4(ABCB4):c.2044del (p.Asp682fs)
|
rs1562965036
|
|
|
NM_000443.4(ABCB4):c.2064+5G>A
|
|
|
|
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His)
|
rs1809631786
|
|
|
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs)
|
rs387906529
|
|
|
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
|
|
|
|
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu)
|
rs1265968550
|
|
|
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu)
|
rs1809490932
|
|
|
NM_000443.4(ABCB4):c.2287A>T (p.Ile763Phe)
|
|
|
|
NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)
|
|
|
|
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val)
|
rs1554401811
|
|
|
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=)
|
rs148865252
|
|
|
NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)
|
|
|
|
NM_000443.4(ABCB4):c.2478+7A>T
|
rs778002144
|
|
|
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter)
|
rs533310204
|
|
|
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe)
|
rs764913373
|
|
|
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)
|
rs1809055658
|
|
|
NM_000443.4(ABCB4):c.2683-883_2783+345del
|
|
|
|
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)
|
rs1808782267
|
|
|
NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly)
|
rs2116424316
|
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
|
|
|
NM_000443.4(ABCB4):c.2861G>A (p.Gly954Asp)
|
|
|
|
NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)
|
|
|
|
NM_000443.4(ABCB4):c.2876G>C (p.Gly959Ala)
|
|
|
|
NM_000443.4(ABCB4):c.2882_2883del (p.Tyr961fs)
|
rs1584684209
|
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
|
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs)
|
rs1584678508
|
|
|
NM_000443.4(ABCB4):c.3081+1G>T
|
|
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
|
NM_000443.4(ABCB4):c.3193C>G (p.Leu1065Val)
|
|
|
|
NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)
|
|
|
|
NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met)
|
rs1187517509
|
|
|
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg)
|
rs1808202820
|
|
|
NM_000443.4(ABCB4):c.334G>T (p.Glu112Ter)
|
|
|
|
NM_000443.4(ABCB4):c.3412del (p.Val1138fs)
|
|
|
|
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs)
|
rs1584671714
|
|
|
NM_000443.4(ABCB4):c.344+4A>G
|
rs1584768888
|
|
|
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)
|
rs1807938184
|
|
|
NM_000443.4(ABCB4):c.3506G>A (p.Gly1169Glu)
|
|
|
|
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter)
|
rs1584665400
|
|
|
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His)
|
rs1160711086
|
|
|
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)
|
rs1562945221
|
|
|
NM_000443.4(ABCB4):c.3737A>C (p.Gln1246Pro)
|
|
|
|
NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)
|
|
|
|
NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)
|
|
|
|
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs)
|
rs387906526
|
|
|
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala)
|
rs542995265
|
|
|
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer)
|
rs1584763429
|
|
|
NM_000443.4(ABCB4):c.742G>C (p.Ala248Pro)
|
|
|
|
NM_000443.4(ABCB4):c.762del (p.Val255fs)
|
|
|
|
NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)
|
|
|
|
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro)
|
rs1554409388
|
|
|
NM_000443.4(ABCB4):c.784del (p.Ala262fs)
|
|
|
|
NM_000443.4(ABCB4):c.793A>T (p.Thr265Ser)
|
|
|
|
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)
|
rs551234479
|
|
|
NM_000443.4(ABCB4):c.834-1G>A
|
rs752563752
|
|
|
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
|
|
|
|
NM_000443.4(ABCB4):c.893del (p.Asn298fs)
|
rs1584754766
|
|
|
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp)
|
rs1584754706
|
|
|
NM_000443.4(ABCB4):c.944C>A (p.Ala315Asp)
|
|
|
|
NM_001077268.2(ZFYVE19):c.374G>A (p.Cys125Tyr)
|
|
|
|
NM_001077268.2(ZFYVE19):c.379C>T (p.Gln127Ter)
|
rs1890395046
|
|
|
NM_001077268.2(ZFYVE19):c.446A>C (p.Tyr149Ser)
|
|
|
|
NM_001080467.3(MYO5B):c.1860dup (p.Met621fs)
|
rs1258766593
|
|
|
NM_001080467.3(MYO5B):c.2414+5G>T
|
rs2144150424
|
|
|
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys)
|
rs777038090
|
|
|
NM_001080467.3(MYO5B):c.3538-1G>A
|
rs2144094082
|
|
|
NM_001080467.3(MYO5B):c.356A>G (p.Tyr119Cys)
|
rs2144383876
|
|
|
NM_001080467.3(MYO5B):c.999G>T (p.Leu333Phe)
|
|
|
|
NM_001080467.3(MYO5B):c.[1135C>T;2470C>T]
|
|
|
|
NM_001206979.2(NR1H4):c.1034del (p.Pro345fs)
|
rs1593114820
|
|
|
NM_001206979.2(NR1H4):c.1280del (p.Gln427fs)
|
|
|
|
NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr)
|
|
|
|
NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys)
|
rs879255644
|
|
|
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)
|
rs113090017
|
|
|
NM_001206979.2(NR1H4):c.831+1G>T
|
rs1555335782
|
|
|
NM_001206979.2(NR1H4):c.883G>T (p.Ala295Ser)
|
|
|
|
NM_001206979.2(NR1H4):c.887C>T (p.Thr296Ile)
|
rs1251445242
|
|
|
NM_001206979.2(NR1H4):c.976G>C (p.Gly326Arg)
|
|
|
|
NM_001371395.1(USP53):c.1295_1299del (p.Leu432fs)
|
|
|
|
NM_001371395.1(USP53):c.145-10_168del
|
|
|
|
NM_001371395.1(USP53):c.146T>A (p.Val49Asp)
|
|
|
|
NM_001371395.1(USP53):c.153G>A (p.Trp51Ter)
|
|
|
|
NM_001371395.1(USP53):c.158T>A (p.Leu53Ter)
|
rs2149341072
|
|
|
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
|
|
|
|
NM_001371395.1(USP53):c.1744C>T (p.Arg582Ter)
|
|
|
|
NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)
|
|
|
|
NM_001371395.1(USP53):c.237+1G>A
|
|
|
|
NM_001371395.1(USP53):c.372+3_372+6del
|
rs773537048
|
|
|
NM_001371395.1(USP53):c.395A>G (p.His132Arg)
|
rs1578490102
|
|
|
NM_001371395.1(USP53):c.510del (p.Ser171fs)
|
rs2149374086
|
|
|
NM_001371395.1(USP53):c.569+2T>C
|
rs1578491039
|
|
|
NM_001371395.1(USP53):c.570-1G>A
|
|
|
|
NM_001371395.1(USP53):c.583del (p.Arg195fs)
|
rs1578499691
|
|
|
NM_001371395.1(USP53):c.725C>T (p.Pro242Leu)
|
rs1561279060
|
|
|
NM_001371395.1(USP53):c.78_79dup (p.Ala27fs)
|
|
|
|
NM_001371395.1(USP53):c.822+1del
|
|
|
|
NM_001371395.1(USP53):c.829del (p.Tyr277fs)
|
|
|
|
NM_001371395.1(USP53):c.834_835dup (p.Val279fs)
|
rs1578504946
|
|
|
NM_001371395.1(USP53):c.878G>T (p.Gly293Val)
|
rs1317656688
|
|
|
NM_001371395.1(USP53):c.951del (p.Phe317fs)
|
rs2149389813
|
|
|
NM_001371395.1(USP53):c.972+3_972+6del
|
|
|
|
NM_001371395.1(USP53):c.973-1G>A
|
|
|
|
NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)
|
|
|
|
NM_001374385.1(ATP8B1):c.*102G>T
|
rs886054008
|
|
|
NM_001374385.1(ATP8B1):c.*1243T>C
|
rs571338678
|
|
|
NM_001374385.1(ATP8B1):c.*1333T>G
|
rs1909226700
|
|
|
NM_001374385.1(ATP8B1):c.*1796G>A
|
rs747148347
|
|
|
NM_001374385.1(ATP8B1):c.*1833G>A
|
rs574070627
|
|
|
NM_001374385.1(ATP8B1):c.*2015del
|
rs35833803
|
|
|
NM_001374385.1(ATP8B1):c.*212T>C
|
rs886054007
|
|
|
NM_001374385.1(ATP8B1):c.*261G>C
|
rs1909307752
|
|
|
NM_001374385.1(ATP8B1):c.*292C>A
|
rs1599059993
|
|
|
NM_001374385.1(ATP8B1):c.*440C>T
|
rs867751351
|
|
|
NM_001374385.1(ATP8B1):c.*467G>A
|
rs1909290314
|
|
|
NM_001374385.1(ATP8B1):c.*587G>A
|
rs317822
|
|
|
NM_001374385.1(ATP8B1):c.*646G>C
|
rs886054006
|
|
|
NM_001374385.1(ATP8B1):c.*649C>A
|
rs1288737685
|
|
|
NM_001374385.1(ATP8B1):c.*651T>C
|
rs886054005
|
|
|
NM_001374385.1(ATP8B1):c.*694T>C
|
rs886054004
|
|
|
NM_001374385.1(ATP8B1):c.*727A>C
|
rs776278990
|
|
|
NM_001374385.1(ATP8B1):c.*735T>G
|
rs561633356
|
|
|
NM_001374385.1(ATP8B1):c.*741A>G
|
rs970265600
|
|
|
NM_001374385.1(ATP8B1):c.*900G>A
|
rs4940950
|
|
|
NM_001374385.1(ATP8B1):c.*900G>T
|
rs4940950
|
|
|
NM_001374385.1(ATP8B1):c.-25-4014_181+2209del
|
|
|
|
NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.1193C>T (p.Thr398Ile)
|
rs1484507624
|
|
|
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)
|
rs1912544280
|
|
|
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.1234C>T (p.Arg412Cys)
|
rs760934663
|
|
|
NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met)
|
rs121909104
|
|
|
NM_001374385.1(ATP8B1):c.136C>T (p.Arg46Ter)
|
|
|
|
NM_001374385.1(ATP8B1):c.1426T>A (p.Tyr476Asn)
|
|
|
|
NM_001374385.1(ATP8B1):c.1429+1G>T
|
|
|
|
NM_001374385.1(ATP8B1):c.1430-126_1430-124del
|
rs10594129
|
|
|
NM_001374385.1(ATP8B1):c.1473+2T>C
|
rs1568195257
|
|
|
NM_001374385.1(ATP8B1):c.1553C>G (p.Ser518Ter)
|
|
|
|
NM_001374385.1(ATP8B1):c.1556G>A (p.Gly519Glu)
|
rs886054011
|
|
|
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)
|
rs770257115
|
|
|
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del)
|
rs756395915
|
|
|
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)
|
rs121909101
|
|
|
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs)
|
rs1599166106
|
|
|
NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
|
|
|
|
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
|
|
|
|
NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)
|
rs775370485
|
|
|
NM_001374385.1(ATP8B1):c.1932+1G>A
|
rs1568188537
|
|
|
NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter)
|
rs2122711426
|
|
|
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
|
|
|
|
NM_001374385.1(ATP8B1):c.2098-17_2098-15dup
|
rs34422185
|
|
|
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup
|
rs34422185
|
|
|
NM_001374385.1(ATP8B1):c.2098-19_2098-15dup
|
rs34422185
|
|
|
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup
|
rs34422185
|
|
|
NM_001374385.1(ATP8B1):c.2098-21_2098-15dup
|
rs34422185
|
|
|
NM_001374385.1(ATP8B1):c.2098-7_2098delinsTTTTTAGT
|
rs1568187066
|
|
|
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
|
|
|
|
NM_001374385.1(ATP8B1):c.2208G>A (p.Lys736=)
|
rs764984556
|
|
|
NM_001374385.1(ATP8B1):c.222C>A (p.His74Gln)
|
rs145214384
|
|
|
NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)
|
rs1057524081
|
|
|
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn)
|
rs1599090593
|
|
|
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del)
|
rs2122653939
|
|
|
NM_001374385.1(ATP8B1):c.2418+5G>A
|
|
|
|
NM_001374385.1(ATP8B1):c.2500_2588del (p.Met834fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
|
|
|
|
NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys)
|
rs121909103
|
|
|
NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)
|
|
|
|
NM_001374385.1(ATP8B1):c.2614dup (p.Gln872fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)
|
rs540027832
|
|
|
NM_001374385.1(ATP8B1):c.2742_2743delinsT (p.Glu914fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
|
|
|
|
NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
|
|
|
|
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
|
|
|
|
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
|
|
|
|
NM_001374385.1(ATP8B1):c.3015+1G>T
|
rs1599069873
|
|
|
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)
|
rs781213892
|
|
|
NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
|
|
|
|
NM_001374385.1(ATP8B1):c.3261+1G>C
|
rs1568178734
|
|
|
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)
|
rs1599066459
|
|
|
NM_001374385.1(ATP8B1):c.3400+2T>C
|
|
|
|
NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=)
|
rs886054009
|
|
|
NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro)
|
rs1909527634
|
|
|
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
|
|
|
|
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr)
|
rs946672182
|
|
|
NM_001374385.1(ATP8B1):c.3531+1G>A
|
|
|
|
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=)
|
rs35953143
|
|
|
NM_001374385.1(ATP8B1):c.3722del (p.Gly1241fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
|
|
|
|
NM_001374385.1(ATP8B1):c.494C>G (p.Ala165Gly)
|
rs886054014
|
|
|
NM_001374385.1(ATP8B1):c.501T>A (p.His167Gln)
|
rs780703474
|
|
|
NM_001374385.1(ATP8B1):c.555-1G>C
|
|
|
|
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)
|
rs1912903065
|
|
|
NM_001374385.1(ATP8B1):c.627+5G>T
|
rs745696446
|
|
|
NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met)
|
rs1449849281
|
|
|
NM_001374385.1(ATP8B1):c.68C>T (p.Pro23Leu)
|
|
|
|
NM_001374385.1(ATP8B1):c.696_697inv (p.Gly233Arg)
|
|
|
|
NM_001374385.1(ATP8B1):c.698+1G>T
|
|
|
|
NM_001374385.1(ATP8B1):c.698+564_941-154dup
|
|
|
|
NM_001374385.1(ATP8B1):c.699-2A>G
|
|
|
|
NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
|
|
|
|
NM_001374385.1(ATP8B1):c.782-5A>T
|
rs886054013
|
|
|
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
|
|
|
|
NM_001374385.1(ATP8B1):c.886C>A (p.Arg296Ser)
|
|
|
|
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
|
|
|
|
NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)
|
|
|
|
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)
|
rs564811653
|
|
|
NM_001388308.1(KIF12):c.1723C>T (p.Arg575Ter)
|
|
|
|
NM_001388308.1(KIF12):c.375+1G>T
|
|
|
|
NM_001388308.1(KIF12):c.430del (p.Ala144fs)
|
|
|
|
NM_001388308.1(KIF12):c.704A>G (p.His235Arg)
|
|
|
|
NM_003049.4(SLC10A1):c.[601_611del;745C>T]
|
|
|
|
NM_003742.4(ABCB11):c.*193G>C
|
rs886055061
|
|
|
NM_003742.4(ABCB11):c.*26A>G
|
rs762157709
|
|
|
NM_003742.4(ABCB11):c.*281T>G
|
rs3732038
|
|
|
NM_003742.4(ABCB11):c.*406A>G
|
rs1213193045
|
|
|
NM_003742.4(ABCB11):c.*509C>T
|
rs886055059
|
|
|
NM_003742.4(ABCB11):c.-57C>T
|
rs1695860361
|
|
|
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
|
|
|
|
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
|
|
|
|
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=)
|
rs1694080804
|
|
|
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter)
|
rs1574462504
|
|
|
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser)
|
rs572222881
|
|
|
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs)
|
rs2105984736
|
|
|
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)
|
rs1553468235
|
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
|
NM_003742.4(ABCB11):c.1197+13C>T
|
rs781492309
|
|
|
NM_003742.4(ABCB11):c.1197+2T>C
|
rs886055068
|
|
|
NM_003742.4(ABCB11):c.1198-1G>C
|
|
|
|
NM_003742.4(ABCB11):c.1198-2A>C
|
|
|
|
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)
|
rs913644236
|
|
|
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr)
|
rs121908935
|
|
|
NM_003742.4(ABCB11):c.132_133del (p.Arg44fs)
|
|
|
|
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly)
|
rs1558898919
|
|
|
NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)
|
|
|
|
NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter)
|
rs2105967973
|
|
|
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)
|
rs1463057954
|
|
|
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)
|
rs1558898789
|
|
|
NM_003742.4(ABCB11):c.1434+5G>A
|
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
|
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro)
|
rs188824058
|
|
|
NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)
|
|
|
|
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
|
|
|
|
NM_003742.4(ABCB11):c.150+3A>C
|
rs387906354
|
|
|
NM_003742.4(ABCB11):c.151-9T>G
|
|
|
|
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
|
|
|
|
NM_003742.4(ABCB11):c.1542_1560del (p.Asn515fs)
|
|
|
|
NM_003742.4(ABCB11):c.1604C>A (p.Ala535Asp)
|
|
|
|
NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)
|
rs979738325
|
|
|
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)
|
rs753994013
|
|
|
NM_003742.4(ABCB11):c.1623C>G (p.Ile541Met)
|
rs764296800
|
|
|
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
|
|
|
|
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)
|
|
|
|
NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)
|
|
|
|
NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)
|
|
|
|
NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)
|
|
|
|
NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)
|
|
|
|
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
|
|
|
|
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)
|
|
|
|
NM_003742.4(ABCB11):c.180_181dup (p.Leu61fs)
|
|
|
|
NM_003742.4(ABCB11):c.1814A>C (p.Gln605Pro)
|
|
|
|
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)
|
rs199671371
|
|
|
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=)
|
rs1693471170
|
|
|
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)
|
|
|
|
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)
|
rs1064797270
|
|
|
NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter)
|
|
|
|
NM_003742.4(ABCB11):c.1996G>T (p.Glu666Ter)
|
|
|
|
NM_003742.4(ABCB11):c.2011+1G>T
|
|
|
|
NM_003742.4(ABCB11):c.2075+2T>C
|
rs1574445178
|
|
|
NM_003742.4(ABCB11):c.2075+3A>G
|
|
|
|
NM_003742.4(ABCB11):c.2076-1G>A
|
rs2105947080
|
|
|
NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)
|
|
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
|
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu)
|
rs1695254190
|
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
|
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
|
|
|
|
NM_003742.4(ABCB11):c.2178+1G>T
|
|
|
|
NM_003742.4(ABCB11):c.2178+2T>C
|
rs1693198121
|
|
|
NM_003742.4(ABCB11):c.2179-1G>A
|
rs2105935255
|
|
|
NM_003742.4(ABCB11):c.2272G>C (p.Gly758Arg)
|
|
|
|
NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)
|
|
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
|
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
|
|
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
|
NM_003742.4(ABCB11):c.2343+1G>C
|
|
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
|
|
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val)
|
rs1692231118
|
|
|
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
|
|
|
|
NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
|
|
|
|
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=)
|
rs2105912786
|
|
|
NM_003742.4(ABCB11):c.2451del (p.Tyr818fs)
|
rs2105912644
|
|
|
NM_003742.4(ABCB11):c.2458T>C (p.Phe820Leu)
|
|
|
|
NM_003742.4(ABCB11):c.2488del (p.Arg830fs)
|
rs756323541
|
|
|
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)
|
rs376255350
|
|
|
NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)
|
|
|
|
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
|
|
|
|
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)
|
rs1258387740
|
|
|
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr)
|
rs886055064
|
|
|
NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg)
|
|
|
|
NM_003742.4(ABCB11):c.2633_2636delinsAGAG (p.Met878_Ile879delinsLysArg)
|
|
|
|
NM_003742.4(ABCB11):c.2688del (p.Phe896fs)
|
|
|
|
NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)
|
|
|
|
NM_003742.4(ABCB11):c.2703C>A (p.Ser901Arg)
|
|
|
|
NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys)
|
rs755362375
|
|
|
NM_003742.4(ABCB11):c.2815-2A>G
|
|
|
|
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)
|
rs1559183717
|
|
|
NM_003742.4(ABCB11):c.2843G>A (p.Arg948His)
|
|
|
|
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu)
|
rs886055063
|
|
|
NM_003742.4(ABCB11):c.2913del (p.Phe971fs)
|
|
|
|
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)
|
rs72549399
|
|
|
NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)
|
|
|
|
NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)
|
|
|
|
NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)
|
|
|
|
NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)
|
|
|
|
NM_003742.4(ABCB11):c.3129_3130delinsT (p.Lys1043fs)
|
|
|
|
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro)
|
rs747153406
|
|
|
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)
|
rs2105891349
|
|
|
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His)
|
rs886055062
|
|
|
NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)
|
|
|
|
NM_003742.4(ABCB11):c.3233T>A (p.Ile1078Asn)
|
|
|
|
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro)
|
rs1553545883
|
|
|
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr)
|
rs754048936
|
|
|
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser)
|
rs1574398620
|
|
|
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)
|
rs764581483
|
|
|
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)
|
rs764581483
|
|
|
NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter)
|
rs2105888359
|
|
|
NM_003742.4(ABCB11):c.3491del (p.Val1164fs)
|
rs755647308
|
|
|
NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser)
|
rs1691360150
|
|
|
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val)
|
rs1163343377
|
|
|
NM_003742.4(ABCB11):c.3510_3511insT (p.Met1171fs)
|
|
|
|
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp)
|
rs887349193
|
|
|
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val)
|
rs1691356249
|
|
|
NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)
|
|
|
|
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu)
|
rs2105881962
|
|
|
NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)
|
|
|
|
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)
|
rs1691232631
|
|
|
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
|
|
|
|
NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu)
|
rs778992761
|
|
|
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)
|
rs761200259
|
|
|
NM_003742.4(ABCB11):c.3766-34A>G
|
rs579275
|
|
|
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs)
|
rs387907317
|
|
|
NM_003742.4(ABCB11):c.379del (p.Thr127fs)
|
rs1558927163
|
|
|
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
|
|
|
|
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs)
|
rs1231877314
|
|
|
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)
|
|
|
|
NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)
|
|
|
|
NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu)
|
rs1553543921
|
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
|
NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)
|
|
|
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NM_003742.4(ABCB11):c.3945del (p.Thr1316fs)
|
rs886043366
|
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NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala)
|
rs1691168576
|
|
|
NM_003742.4(ABCB11):c.394C>T (p.Leu132=)
|
rs1212884328
|
|
|
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter)
|
rs1026511416
|
|
|
NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)
|
|
|
|
NM_003742.4(ABCB11):c.435T>G (p.Tyr145Ter)
|
|
|
|
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr)
|
rs776561679
|
|
|
NM_003742.4(ABCB11):c.477+8G>T
|
rs745477056
|
|
|
NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)
|
|
|
|
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
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|
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NM_003742.4(ABCB11):c.583G>T (p.Val195Leu)
|
rs762475940
|
|
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NM_003742.4(ABCB11):c.585G>A (p.Val195=)
|
rs11568365
|
|
|
NM_003742.4(ABCB11):c.611+2dup
|
|
|
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NM_003742.4(ABCB11):c.611+5G>A
|
|
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NM_003742.4(ABCB11):c.617_619del (p.Ile206del)
|
|
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NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
|
|
|
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NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
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NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp)
|
rs72551306
|
|
|
NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)
|
|
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|
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)
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|
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NM_003742.4(ABCB11):c.76+4A>G
|
|
|
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NM_003742.4(ABCB11):c.77-16dup
|
rs746419453
|
|
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NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
|
|
|
|
NM_003742.4(ABCB11):c.798del (p.Phe266fs)
|
|
|
|
NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)
|
|
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NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
|
|
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
|
NM_003742.4(ABCB11):c.908+1G>C
|
rs147649016
|
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|
NM_003742.4(ABCB11):c.908+1del
|
rs1553469602
|
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
|
|
NM_003742.4(ABCB11):c.957A>G (p.Gly319=)
|
rs7563233
|
|
|
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)
|
rs1418620415
|
|
|
NM_003742.4(ABCB11):c.98+2T>C
|
|
|
|
NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)
|
|
|
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NM_003742.4(ABCB11):c.99-2A>G
|
|
|
|
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn)
|
rs1558909465
|
|
|
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
|
|
|
|
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)
|
rs1182781290
|
|
|
NM_004817.4(TJP2):c.115-1G>A
|
rs1588080680
|
|
|
NM_004817.4(TJP2):c.115-2A>C
|
rs1588080674
|
|
|
NM_004817.4(TJP2):c.1157del (p.Gln386fs)
|
rs2133314949
|
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
|
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter)
|
rs777460754
|
|
|
NM_004817.4(TJP2):c.1243del (p.Ser415fs)
|
rs1057518679
|
|
|
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter)
|
rs1251192873
|
|
|
NM_004817.4(TJP2):c.1361del (p.Ala454fs)
|
rs587777520
|
|
|
NM_004817.4(TJP2):c.1517_1520+8del
|
|
|
|
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)
|
rs1588117076
|
|
|
NM_004817.4(TJP2):c.1672-1G>A
|
rs1588127136
|
|
|
NM_004817.4(TJP2):c.1672-27del
|
rs202100183
|
|
|
NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter)
|
|
|
|
NM_004817.4(TJP2):c.1855A>G (p.Thr619Ala)
|
|
|
|
NM_004817.4(TJP2):c.1992-2A>G
|
rs587777521
|
|
|
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser)
|
rs199605381
|
|
|
NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter)
|
|
|
|
NM_004817.4(TJP2):c.2180-5T>G
|
rs1588135086
|
|
|
NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter)
|
|
|
|
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)
|
rs1830379007
|
|
|
NM_004817.4(TJP2):c.2363A>T (p.His788Leu)
|
|
|
|
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)
|
rs1588081022
|
|
|
NM_004817.4(TJP2):c.239+1G>A
|
rs749237210
|
|
|
NM_004817.4(TJP2):c.2438dup (p.Asn814fs)
|
rs776869985
|
|
|
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter)
|
rs1830481830
|
|
|
NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs)
|
rs2133456150
|
|
|
NM_004817.4(TJP2):c.2667+3A>G
|
|
|
|
NM_004817.4(TJP2):c.2668-1G>T
|
rs864321695
|
|
|
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)
|
rs1225374015
|
|
|
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del)
|
rs746080083
|
|
|
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)
|
rs886041948
|
|
|
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
|
|
|
|
NM_004817.4(TJP2):c.766_769del (p.Ala256fs)
|
rs587777518
|
|
|
NM_004817.4(TJP2):c.782del (p.Tyr261fs)
|
rs771690686
|
|
|
NM_004817.4(TJP2):c.813_814del (p.Ala273fs)
|
rs1554660803
|
|
|
NM_004817.4(TJP2):c.817del (p.Ala273fs)
|
rs864321697
|
|
|
NM_004817.4(TJP2):c.885del (p.Ser296fs)
|
rs587777519
|
|
|
NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg)
|
rs1596348299
|
|
|
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
|
|
|
|
NM_024426.6(WT1):c.1321G>C (p.Asp441His)
|
rs2132920232
|
|
|
NM_032830.3(UTP4):c.-2-3T>C
|
rs1962709947
|
|
|
NM_032830.3(UTP4):c.1308C>T (p.Phe436=)
|
rs140221825
|
|
|
NM_032830.3(UTP4):c.418A>G (p.Asn140Asp)
|
rs1962851495
|
|
|
NM_032830.3(UTP4):c.632G>A (p.Ser211Asn)
|
rs1963017242
|
|
|
NM_032830.3(UTP4):c.754G>T (p.Val252Leu)
|
rs375128162
|
|
|
NM_032830.3(UTP4):c.872G>A (p.Arg291His)
|
rs760350216
|
|
|
NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)
|
|
|
|
NM_178859.4(SLC51B):c.84del (p.Arg29fs)
|
rs1595900104
|
|