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_016356.5(DCDC2):c.426-13C>T
|
rs807703
|
0.98337
|
NM_024408.4(NOTCH2):c.1108+30A>G
|
rs2493409
|
0.97622
|
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_021101.5(CLDN1):c.369T>C (p.Gly123=)
|
rs9869263
|
0.83180
|
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_016356.5(DCDC2):c.*3C>G
|
rs9358755
|
0.72045
|
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)
|
rs1051419
|
0.71278
|
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_016356.5(DCDC2):c.661A>G (p.Ser221Gly)
|
rs2274305
|
0.51051
|
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_000214.3(JAG1):c.440-173C>T
|
rs2273061
|
0.45420
|
NM_000214.3(JAG1):c.440-15T>C
|
rs2273060
|
0.42936
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
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_000214.3(JAG1):c.3528C>T (p.Tyr1176=)
|
rs1051421
|
0.22213
|
NM_024408.4(NOTCH2):c.2753-44C>T
|
rs2493420
|
0.22074
|
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_016356.5(DCDC2):c.1368A>T (p.Lys456Asn)
|
rs9460973
|
0.15425
|
NM_003742.4(ABCB11):c.99-18T>C
|
rs4148776
|
0.13692
|
NM_016356.5(DCDC2):c.1017C>T (p.Val339=)
|
rs9467075
|
0.13584
|
NM_003742.4(ABCB11):c.908+108A>G
|
rs4148780
|
0.13132
|
NM_001374385.1(ATP8B1):c.3531+8G>T
|
rs34027711
|
0.12129
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
NM_001374385.1(ATP8B1):c.*1723G>A
|
rs11543269
|
0.09080
|
NM_000214.3(JAG1):c.2214A>C (p.Thr738=)
|
rs1801140
|
0.08364
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)
|
rs12968116
|
0.08072
|
NM_000214.3(JAG1):c.2382C>T (p.Ser794=)
|
rs56225585
|
0.07991
|
NM_001374385.1(ATP8B1):c.*283G>A
|
rs11152024
|
0.07759
|
NM_003742.4(ABCB11):c.1309-93G>A
|
rs55669065
|
0.07356
|
NM_000214.3(JAG1):c.744A>G (p.Pro248=)
|
rs10485741
|
0.06947
|
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_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
NM_032830.3(UTP4):c.714C>T (p.Asp238=)
|
rs2288036
|
0.04782
|
NM_016356.5(DCDC2):c.183C>T (p.Ala61=)
|
rs33943110
|
0.04583
|
NM_016356.5(DCDC2):c.454C>G (p.Pro152Ala)
|
rs33914824
|
0.03882
|
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_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_003742.4(ABCB11):c.389+8G>A
|
rs11568363
|
0.02444
|
NM_000214.3(JAG1):c.924C>T (p.Asn308=)
|
rs45575136
|
0.02367
|
NM_032830.3(UTP4):c.*68A>G
|
rs74886619
|
0.01911
|
NM_001374385.1(ATP8B1):c.3016-9C>A
|
rs34729241
|
0.01910
|
NM_000214.3(JAG1):c.2766C>T (p.Asp922=)
|
rs2229895
|
0.01701
|
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_000214.3(JAG1):c.436G>A (p.Val146Ile)
|
rs6040067
|
0.01238
|
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_000214.3(JAG1):c.2227+17C>T
|
rs115449289
|
0.00903
|
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)
|
rs8187797
|
0.00888
|
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_003742.4(ABCB11):c.3330G>A (p.Ala1110=)
|
rs113099601
|
0.00643
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000214.3(JAG1):c.2459-17A>C
|
rs35891274
|
0.00618
|
NM_000214.3(JAG1):c.2573-16C>T
|
rs112196689
|
0.00608
|
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_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_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn)
|
rs34018300
|
0.00328
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)
|
rs143313706
|
0.00286
|
NM_016356.5(DCDC2):c.425+14C>A
|
rs77544788
|
0.00279
|
NM_016356.5(DCDC2):c.855A>G (p.Ser285=)
|
rs141519329
|
0.00249
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_000214.3(JAG1):c.886+19A>T
|
rs200311847
|
0.00226
|
NM_001374385.1(ATP8B1):c.3016-19A>G
|
rs139202277
|
0.00210
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_000214.3(JAG1):c.1007-16A>G
|
rs201709907
|
0.00198
|
NM_000443.4(ABCB4):c.-1G>A
|
rs45449704
|
0.00181
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_000214.3(JAG1):c.2301G>A (p.Thr767=)
|
rs147634857
|
0.00165
|
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)
|
rs119465999
|
0.00150
|
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_000214.3(JAG1):c.909T>C (p.His303=)
|
rs139574260
|
0.00121
|
NM_000214.3(JAG1):c.1120+10A>G
|
rs201711717
|
0.00118
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)
|
rs111482608
|
0.00107
|
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=)
|
rs145850037
|
0.00102
|
NM_001374385.1(ATP8B1):c.2931+14G>A
|
rs34451179
|
0.00101
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
NM_000214.3(JAG1):c.439+10G>A
|
rs201371037
|
0.00081
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000214.3(JAG1):c.1349-11T>G
|
rs80338240
|
0.00076
|
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)
|
rs183974372
|
0.00054
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_032830.3(UTP4):c.1788C>T (p.Ile596=)
|
rs75998507
|
0.00051
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00044
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)
|
rs144848376
|
0.00039
|
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
NM_016356.5(DCDC2):c.478A>C (p.Arg160=)
|
rs201204772
|
0.00030
|
NM_000214.3(JAG1):c.2344+15C>G
|
rs200139177
|
0.00029
|
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)
|
rs118109635
|
0.00029
|
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=)
|
rs371805640
|
0.00026
|
NM_000214.3(JAG1):c.414G>A (p.Ala138=)
|
rs371682149
|
0.00026
|
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
|
rs138452567
|
0.00022
|
NM_000214.3(JAG1):c.2459-13C>T
|
rs543005578
|
0.00017
|
NM_000214.3(JAG1):c.2596A>G (p.Met866Val)
|
rs746108409
|
0.00016
|
NM_000214.3(JAG1):c.1806C>T (p.His602=)
|
rs764290237
|
0.00015
|
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)
|
rs563232654
|
0.00011
|
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)
|
rs377723772
|
0.00011
|
NM_000214.3(JAG1):c.1570-20G>A
|
rs140937305
|
0.00010
|
NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln)
|
rs568134011
|
0.00010
|
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)
|
rs760470297
|
0.00009
|
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=)
|
rs372984801
|
0.00008
|
NM_000214.3(JAG1):c.1062C>T (p.Thr354=)
|
rs201234509
|
0.00007
|
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)
|
rs767826365
|
0.00007
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)
|
rs909905245
|
0.00006
|
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp)
|
rs397515876
|
0.00006
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
NM_000214.3(JAG1):c.2928G>A (p.Thr976=)
|
rs764341568
|
0.00005
|
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)
|
rs376089631
|
0.00005
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000214.3(JAG1):c.2139G>A (p.Thr713=)
|
rs374177670
|
0.00004
|
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)
|
rs760332763
|
0.00004
|
NM_000214.3(JAG1):c.1797T>C (p.Cys599=)
|
rs746760284
|
0.00003
|
NM_000214.3(JAG1):c.2114-18T>C
|
rs766999933
|
0.00003
|
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=)
|
rs202075581
|
0.00003
|
NM_000214.3(JAG1):c.1443C>T (p.Gly481=)
|
rs879921003
|
0.00002
|
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)
|
rs750570683
|
0.00002
|
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)
|
rs769685858
|
0.00002
|
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)
|
rs758788135
|
0.00002
|
NM_000214.3(JAG1):c.388-4G>C
|
rs567027490
|
0.00002
|
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
|
rs534533867
|
0.00001
|
NM_000214.3(JAG1):c.2559C>T (p.Ala853=)
|
rs201234393
|
0.00001
|
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)
|
rs111706668
|
0.00001
|
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)
|
rs770415804
|
0.00001
|
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)
|
rs1051571820
|
0.00001
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)
|
rs553616378
|
0.00001
|
NM_003742.4(ABCB11):c.-97T>C
|
rs568098536
|
0.00001
|
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)
|
rs144204614
|
|
NM_000214.3(JAG1):c.1230G>A (p.Gln410=)
|
|
|
NM_000214.3(JAG1):c.1263T>C (p.Cys421=)
|
|
|
NM_000214.3(JAG1):c.1349-8dup
|
rs767319365
|
|
NM_000214.3(JAG1):c.1368C>T (p.Gly456=)
|
|
|
NM_000214.3(JAG1):c.1396-27TC[6]
|
rs544547916
|
|
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)
|
|
|
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
|
|
|
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala)
|
rs200473477
|
|
NM_000214.3(JAG1):c.2188A>G (p.Met730Val)
|
|
|
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
|
|
|
NM_000214.3(JAG1):c.2344+17del
|
rs774508190
|
|
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly)
|
|
|
NM_000214.3(JAG1):c.2616T>C (p.Asp872=)
|
|
|
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr)
|
|
|
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn)
|
rs750102792
|
|
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln)
|
|
|
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)
|
|
|
NM_000214.3(JAG1):c.2916+27del
|
rs3215563
|
|
NM_000214.3(JAG1):c.294C>T (p.Ser98=)
|
rs79338570
|
|
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
|
|
|
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)
|
|
|
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
|
|
|
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)
|
|
|
NM_000214.3(JAG1):c.33G>T (p.Gly11=)
|
|
|
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr)
|
|
|
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
|
|
|
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly)
|
rs368162343
|
|
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
|
|
|
NM_000214.3(JAG1):c.694+4TG[8]
|
rs112693360
|
|
NM_000214.3(JAG1):c.695-10dup
|
rs762788344
|
|
NM_000214.3(JAG1):c.695-5del
|
rs762788344
|
|
NM_001374385.1(ATP8B1):c.*2015del
|
rs35833803
|
|
NM_001374385.1(ATP8B1):c.*587G>A
|
rs317822
|
|
NM_001374385.1(ATP8B1):c.*900G>T
|
rs4940950
|
|
NM_001374385.1(ATP8B1):c.1430-126_1430-124del
|
rs10594129
|
|
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup
|
rs34422185
|
|
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup
|
rs34422185
|
|
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=)
|
rs35953143
|
|
NM_003742.4(ABCB11):c.3766-34A>G
|
rs579275
|
|
NM_003742.4(ABCB11):c.957A>G (p.Gly319=)
|
rs7563233
|
|
NM_004817.4(TJP2):c.1672-27del
|
rs202100183
|
|
NM_016356.5(DCDC2):c.294-21GTTT[2]
|
rs374485384
|
|
NM_016356.5(DCDC2):c.349-16dup
|
rs746353912
|
|
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=)
|
rs4021006
|
|