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_001374385.1(ATP8B1):c.698+20C>T
|
rs319439
|
0.42536
|
NM_001374385.1(ATP8B1):c.1932+44C>T
|
rs317838
|
0.39951
|
NM_001374385.1(ATP8B1):c.-106C>T
|
rs1848701
|
0.38084
|
NM_001374385.1(ATP8B1):c.*1509A>G
|
rs1968274
|
0.25162
|
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_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_001374385.1(ATP8B1):c.3016-9C>A
|
rs34729241
|
0.01910
|
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn)
|
rs33963153
|
0.01293
|
NM_001374385.1(ATP8B1):c.*11C>T
|
rs34255016
|
0.00974
|
NM_001374385.1(ATP8B1):c.*888C>G
|
rs149436273
|
0.00683
|
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)
|
rs146599962
|
0.00657
|
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=)
|
rs35757087
|
0.00529
|
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_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
NM_001374385.1(ATP8B1):c.*827T>A
|
rs182819607
|
0.00356
|
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=)
|
rs34623939
|
0.00337
|
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn)
|
rs34018300
|
0.00328
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_001374385.1(ATP8B1):c.3016-19A>G
|
rs139202277
|
0.00210
|
NM_001374385.1(ATP8B1):c.*734A>T
|
rs528645513
|
0.00206
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)
|
rs137973298
|
0.00146
|
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_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr)
|
rs35470719
|
0.00121
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_001374385.1(ATP8B1):c.2931+14G>A
|
rs34451179
|
0.00101
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
NM_001374385.1(ATP8B1):c.*503G>T
|
rs187993447
|
0.00079
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His)
|
rs147642236
|
0.00063
|
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_001374385.1(ATP8B1):c.*968T>A
|
rs886054002
|
0.00029
|
NM_001374385.1(ATP8B1):c.*1945C>T
|
rs779489096
|
0.00025
|
NM_001374385.1(ATP8B1):c.*296C>T
|
rs553050447
|
0.00024
|
NM_001374385.1(ATP8B1):c.*242T>C
|
rs757204179
|
0.00016
|
NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr)
|
rs202100663
|
0.00016
|
NM_001374385.1(ATP8B1):c.*1083T>C
|
rs138676107
|
0.00014
|
NM_001374385.1(ATP8B1):c.*340C>T
|
rs533724646
|
0.00014
|
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr)
|
rs199514707
|
0.00013
|
NM_001374385.1(ATP8B1):c.*1676G>A
|
rs932274962
|
0.00012
|
NM_001374385.1(ATP8B1):c.*426G>A
|
rs192231911
|
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_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_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val)
|
rs369553314
|
0.00007
|
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_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_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_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.3481G>A (p.Val1161Ile)
|
rs771155047
|
0.00003
|
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=)
|
rs754912569
|
0.00003
|
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.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_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.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.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
|
NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del
|
|
|
NC_000018.9:g.(?_55313657)_(55321308_55322425)del
|
|
|
NC_000018.9:g.55335906_55346620dup
|
|
|
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.1246_1247del (p.His417fs)
|
|
|
NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met)
|
rs121909104
|
|
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)
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rs775370485
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NM_001374385.1(ATP8B1):c.1932+1G>A
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rs1568188537
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NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
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NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter)
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rs2122711426
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NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
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NM_001374385.1(ATP8B1):c.2098-17_2098-15dup
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rs34422185
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NM_001374385.1(ATP8B1):c.2098-18_2098-15dup
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rs34422185
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NM_001374385.1(ATP8B1):c.2098-19_2098-15dup
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rs34422185
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NM_001374385.1(ATP8B1):c.2098-20_2098-15dup
|
rs34422185
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NM_001374385.1(ATP8B1):c.2098-21_2098-15dup
|
rs34422185
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NM_001374385.1(ATP8B1):c.2098-7_2098delinsTTTTTAGT
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rs1568187066
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NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
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NM_001374385.1(ATP8B1):c.2208G>A (p.Lys736=)
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rs764984556
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NM_001374385.1(ATP8B1):c.222C>A (p.His74Gln)
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rs145214384
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NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter)
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rs1057524081
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NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn)
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rs1599090593
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NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del)
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rs2122653939
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NM_001374385.1(ATP8B1):c.2418+5G>A
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NM_001374385.1(ATP8B1):c.2500_2588del (p.Met834fs)
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NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
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NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)
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NM_001374385.1(ATP8B1):c.2614dup (p.Gln872fs)
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NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)
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rs540027832
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NM_001374385.1(ATP8B1):c.2742_2743delinsT (p.Glu914fs)
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NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
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NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
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NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
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NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
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NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
|
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NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
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NM_001374385.1(ATP8B1):c.3015+1G>T
|
rs1599069873
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NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)
|
rs781213892
|
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NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
|
|
|
NM_001374385.1(ATP8B1):c.3261+1G>C
|
rs1568178734
|
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NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)
|
rs1599066459
|
|
NM_001374385.1(ATP8B1):c.3400+2T>C
|
|
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NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=)
|
rs886054009
|
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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
|
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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)
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|
|
NM_001374385.1(ATP8B1):c.494C>G (p.Ala165Gly)
|
rs886054014
|
|
NM_001374385.1(ATP8B1):c.501T>A (p.His167Gln)
|
rs780703474
|
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NM_001374385.1(ATP8B1):c.555-1G>C
|
|
|
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)
|
rs1912903065
|
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NM_001374385.1(ATP8B1):c.627+5G>T
|
rs745696446
|
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NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met)
|
rs1449849281
|
|
NM_001374385.1(ATP8B1):c.696_697inv (p.Gly233Arg)
|
|
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NM_001374385.1(ATP8B1):c.699-2A>G
|
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NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
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NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
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NM_001374385.1(ATP8B1):c.782-5A>T
|
rs886054013
|
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NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
|
|
|
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
|
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NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)
|
|
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