ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 795
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_000352.6(ABCC8):c.4119+18A>G rs75967811 0.01067
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000352.6(ABCC8):c.2556+22G>A rs73423036 0.01022
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_000352.6(ABCC8):c.4545+13C>T rs78338172 0.00212
NM_000352.4(ABCC8):c.-215_-214del rs902564696 0.00185
NM_000352.6(ABCC8):c.945C>T (p.Ala315=) rs138521721 0.00173
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_000352.6(ABCC8):c.822+20C>T rs181998151 0.00136
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_000352.6(ABCC8):c.1177-56G>A rs183921963 0.00123
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000352.4(ABCC8):c.-215G>C rs546148657 0.00119
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=) rs145386421 0.00115
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000352.6(ABCC8):c.1630+10C>T rs188075767 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000352.5(ABCC8):c.*118A>G rs142441893 0.00061
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000352.4(ABCC8):c.-544G>A rs184908312 0.00056
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185 0.00038
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00028
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=) rs201662945 0.00026
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=) rs565996783 0.00019
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) rs193922403 0.00019
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_000352.6(ABCC8):c.3399+12C>T rs372561049 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_000352.6(ABCC8):c.823-8C>T rs201000679 0.00014
NM_000352.6(ABCC8):c.1818-6G>A rs368708177 0.00013
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=) rs368419322 0.00013
NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=) rs374880588 0.00013
NM_000352.6(ABCC8):c.45C>T (p.Tyr15=) rs758231286 0.00013
NM_000352.6(ABCC8):c.102G>A (p.Val34=) rs189746511 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347 0.00011
NM_000352.6(ABCC8):c.4119+15C>T rs58368439 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=) rs146584228 0.00010
NM_000352.6(ABCC8):c.723C>T (p.His241=) rs147276708 0.00010
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=) rs144200345 0.00009
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=) rs17846762 0.00009
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=) rs150956385 0.00008
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val) rs562680077 0.00008
NM_000352.6(ABCC8):c.4360C>T (p.Leu1454=) rs544133684 0.00008
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000352.3(ABCC8):c.-113G>A rs886048056 0.00007
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000352.6(ABCC8):c.2094C>T (p.Asn698=) rs757172850 0.00007
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=) rs200693100 0.00007
NM_000352.6(ABCC8):c.393C>T (p.Asn131=) rs372524091 0.00007
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=) rs775001123 0.00006
NM_000352.6(ABCC8):c.1924-13A>G rs369865762 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2222+12A>G rs534103042 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3329+7G>A rs776313489 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.621C>T (p.Pro207=) rs765043940 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569 0.00006
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000352.6(ABCC8):c.1704G>A (p.Glu568=) rs745652559 0.00005
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His) rs775921458 0.00005
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=) rs746146690 0.00005
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=) rs374853931 0.00005
NM_000352.6(ABCC8):c.4546-4G>A rs770984647 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=) rs765090096 0.00004
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) rs763794263 0.00004
NM_000352.6(ABCC8):c.1924-10C>T rs200823913 0.00004
NM_000352.6(ABCC8):c.2117-12C>A rs193922398 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr) rs751209734 0.00004
NM_000352.6(ABCC8):c.3087C>A (p.Ile1029=) rs376413488 0.00004
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000352.6(ABCC8):c.3558-7G>A rs900191703 0.00004
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830 0.00004
NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=) rs775134825 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln) rs374743072 0.00004
NM_000352.6(ABCC8):c.495G>A (p.Ser165=) rs369136858 0.00004
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr) rs756552692 0.00004
NM_000352.6(ABCC8):c.552C>T (p.Leu184=) rs151211613 0.00004
NM_000352.6(ABCC8):c.604A>T (p.Arg202Trp) rs751446018 0.00004
NM_000352.6(ABCC8):c.735C>T (p.Ile245=) rs535141079 0.00004
NM_000352.6(ABCC8):c.942C>T (p.Phe314=) rs768582290 0.00004
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383 0.00003
NM_000352.6(ABCC8):c.1332+9T>C rs775059899 0.00003
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=) rs751643248 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.1513G>A (p.Gly505Ser) rs200977997 0.00003
NM_000352.6(ABCC8):c.1923+10C>T rs775087598 0.00003
NM_000352.6(ABCC8):c.2163G>C (p.Ser721=) rs201724038 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=) rs200708414 0.00003
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr) rs148342166 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln) rs765913448 0.00003
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=) rs372257088 0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=) rs372186045 0.00003
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000352.6(ABCC8):c.413-15A>G rs758744263 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=) rs369810811 0.00003
NM_000352.6(ABCC8):c.4608+10C>T rs754304889 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln) rs757018137 0.00003
NM_000352.6(ABCC8):c.822+3C>T rs370697909 0.00003
NM_000352.6(ABCC8):c.1002C>T (p.Phe334=) rs763978514 0.00002
NM_000352.6(ABCC8):c.1071C>G (p.Val357=) rs747552453 0.00002
NM_000352.6(ABCC8):c.123C>T (p.Phe41=) rs778891891 0.00002
NM_000352.6(ABCC8):c.1668C>T (p.Leu556=) rs1287759139 0.00002
NM_000352.6(ABCC8):c.1716G>A (p.Ser572=) rs750619309 0.00002
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=) rs550788491 0.00002
NM_000352.6(ABCC8):c.1886C>T (p.Pro629Leu) rs375862506 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.1998G>C (p.Leu666=) rs1191652273 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=) rs747902103 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00002
NM_000352.6(ABCC8):c.3175G>A (p.Asp1059Asn) rs755718934 0.00002
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000352.6(ABCC8):c.3557+20G>C rs764779784 0.00002
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp) rs368710356 0.00002
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=) rs137868047 0.00002
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) rs774965446 0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.414C>T (p.Ala138=) rs372766371 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000352.6(ABCC8):c.4412-4T>G rs1476016104 0.00002
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=) rs773042150 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000352.6(ABCC8):c.813C>T (p.Asp271=) rs569222899 0.00002
NM_000352.6(ABCC8):c.890G>A (p.Arg297Lys) rs371802112 0.00002
NM_000352.4(ABCC8):c.-190C>G rs1395224084 0.00001
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672 0.00001
NM_000352.6(ABCC8):c.108C>T (p.His36=) rs757935183 0.00001
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=) rs1256418853 0.00001
NM_000352.6(ABCC8):c.1177-1G>A rs1167993548 0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676 0.00001
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu) rs267606623 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1428C>G (p.Phe476Leu) rs867541142 0.00001
NM_000352.6(ABCC8):c.1467+9C>T rs774224706 0.00001
NM_000352.6(ABCC8):c.1468-2A>T rs1057516946 0.00001
NM_000352.6(ABCC8):c.148+3G>A rs996321405 0.00001
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp) rs775894336 0.00001
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168 0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054 0.00001
NM_000352.6(ABCC8):c.165C>T (p.Ser55=) rs1591928903 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 0.00001
NM_000352.6(ABCC8):c.1671+1G>C rs1057516509 0.00001
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg) rs762919223 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile) rs1955813180 0.00001
NM_000352.6(ABCC8):c.1818-7C>T rs17846731 0.00001
NM_000352.6(ABCC8):c.1833C>T (p.Ser611=) rs763273046 0.00001
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys) rs565662182 0.00001
NM_000352.6(ABCC8):c.1924-9C>T rs1218098329 0.00001
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys) rs373175144 0.00001
NM_000352.6(ABCC8):c.1969C>T (p.Arg657Trp) rs778117119 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.1980C>T (p.Thr660=) rs766374930 0.00001
NM_000352.6(ABCC8):c.2022T>C (p.Ala674=) rs371724951 0.00001
NM_000352.6(ABCC8):c.2116+2T>C rs786204676 0.00001
NM_000352.6(ABCC8):c.2169T>C (p.Leu723=) rs1591794603 0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035 0.00001
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile) rs376206979 0.00001
NM_000352.6(ABCC8):c.2236G>A (p.Glu746Lys) rs753296261 0.00001
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg) rs757961130 0.00001
NM_000352.6(ABCC8):c.2291+7C>T rs770152618 0.00001
NM_000352.6(ABCC8):c.2291+8G>A rs748169568 0.00001
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658 0.00001
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) rs1484689392 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.2556+1G>T rs749271190 0.00001
NM_000352.6(ABCC8):c.2556+9A>C rs1954870052 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2694+15G>A rs886048051 0.00001
NM_000352.6(ABCC8):c.2695-1G>C rs1057517420 0.00001
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys) rs748585974 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000352.6(ABCC8):c.291-8C>T rs370095966 0.00001
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3076C>G (p.Leu1026Val) rs1354438772 0.00001
NM_000352.6(ABCC8):c.3147C>T (p.Asn1049=) rs1317881086 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3228G>T (p.Val1076=) rs368587840 0.00001
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281 0.00001
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val) rs1354859002 0.00001
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3619G>A (p.Val1207Ile) rs1227230033 0.00001
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=) rs769968875 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp) rs567382793 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000352.6(ABCC8):c.3868-1G>A rs766431403 0.00001
NM_000352.6(ABCC8):c.3868-5C>T rs1591715618 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn) rs1199684247 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 0.00001
NM_000352.6(ABCC8):c.4095T>C (p.Asn1365=) rs1207446214 0.00001
NM_000352.6(ABCC8):c.4119+10C>T rs201955628 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052 0.00001
NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=) rs746249607 0.00001
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val) rs776100468 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4281C>A (p.Asp1427Glu) rs1334003978 0.00001
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=) rs752222583 0.00001
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=) rs752809991 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=) rs267602801 0.00001
NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=) rs553746345 0.00001
NM_000352.6(ABCC8):c.4545+9T>C rs775018351 0.00001
NM_000352.6(ABCC8):c.4588C>T (p.Arg1530Cys) rs148808854 0.00001
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247 0.00001
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815 0.00001
NM_000352.6(ABCC8):c.4653G>A (p.Leu1551=) rs17846721 0.00001
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=) rs747402972 0.00001
NM_000352.6(ABCC8):c.4720G>A (p.Ala1574Thr) rs199736860 0.00001
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser) rs574487898 0.00001
NM_000352.6(ABCC8):c.496C>A (p.Gln166Lys) rs1591896370 0.00001
NM_000352.6(ABCC8):c.507C>T (p.Phe169=) rs755745806 0.00001
NM_000352.6(ABCC8):c.510C>T (p.Cys170=) rs752679178 0.00001
NM_000352.6(ABCC8):c.513C>T (p.Leu171=) rs767395738 0.00001
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930 0.00001
NM_000352.6(ABCC8):c.579+9G>A rs776165640 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.793C>T (p.Arg265Trp) rs1057524701 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly) rs149347593 0.00001
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) rs776498313 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000352.6(ABCC8):c.987G>A (p.Lys329=) rs1216809389 0.00001
NM_000352.6(ABCC8):c.993C>T (p.Asn331=) rs752188418 0.00001
GRCh37/hg19 11p15.1(chr11:17448546-17453841)x3
NC_000011.10:g.17476889C>A rs886048056
NC_000011.10:g.17477161C>A rs1052653345
NM_000352.3(ABCC8):c.-111delG rs1409923989
NM_000352.3(ABCC8):c.-71A>T rs2133739075
NM_000352.4(ABCC8):c.-385G>A rs1052653345
NM_000352.4(ABCC8):c.-516C>G rs1361833406
NM_000352.4(ABCC8):c.-545A>G rs2133740783
NM_000352.6(ABCC8):c.*7A>C rs760439027
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.-64C>G
NM_000352.6(ABCC8):c.1012-2A>G rs1554938866
NM_000352.6(ABCC8):c.1012-6C>T rs764178736
NM_000352.6(ABCC8):c.1012-7C>G
NM_000352.6(ABCC8):c.1015C>A (p.Gln339Lys) rs2133642509
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp) rs763028380
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe) rs1956875186
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg) rs756808492
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe) rs777461294
NM_000352.6(ABCC8):c.1138_1139delinsAA (p.Ala380Asn)
NM_000352.6(ABCC8):c.1142T>C (p.Ile381Thr)
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.6(ABCC8):c.1168G>A (p.Ala390Thr)
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile) rs377104807
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=) rs1956635063
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln) rs1564955834
NM_000352.6(ABCC8):c.1223C>A (p.Ser408Tyr)
NM_000352.6(ABCC8):c.122T>C (p.Phe41Ser)
NM_000352.6(ABCC8):c.1235T>A (p.Met412Lys) rs2133617327
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000352.6(ABCC8):c.1261G>A (p.Val421Ile) rs1591846104
NM_000352.6(ABCC8):c.1261G>T (p.Val421Phe)
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1269C>T (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.6(ABCC8):c.1277A>G (p.Asn426Ser)
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val) rs1956631543
NM_000352.6(ABCC8):c.1291T>C (p.Phe431Leu) rs1956630610
NM_000352.6(ABCC8):c.1296C>T (p.Phe432=) rs1591845922
NM_000352.6(ABCC8):c.1332+17G>C rs193922395
NM_000352.6(ABCC8):c.1332+3A>G
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1363A>G (p.Ile455Val)
NM_000352.6(ABCC8):c.1366C>T (p.Leu456Phe)
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
NM_000352.6(ABCC8):c.1412C>A (p.Ala471Asp)
NM_000352.6(ABCC8):c.1416T>C (p.Pro472=) rs1391155490
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg) rs1591834223
NM_000352.6(ABCC8):c.1432G>T (p.Ala478Ser)
NM_000352.6(ABCC8):c.1433C>G (p.Ala478Gly) rs1956392066
NM_000352.6(ABCC8):c.1453C>A (p.Gln485Lys) rs1956391008
NM_000352.6(ABCC8):c.1456C>T (p.Arg486Trp)
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val) rs1554949196
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.6(ABCC8):c.1467+1G>T rs1554933415
NM_000352.6(ABCC8):c.1467+2T>C rs1057517128
NM_000352.6(ABCC8):c.1468-48G>A
NM_000352.6(ABCC8):c.1468-52G>A
NM_000352.6(ABCC8):c.148+2T>C rs1554949176
NM_000352.6(ABCC8):c.148+4A>T rs763159607
NM_000352.6(ABCC8):c.149-1G>A rs1554948445
NM_000352.6(ABCC8):c.1507C>T (p.Leu503Phe)
NM_000352.6(ABCC8):c.1513G>C (p.Gly505Arg)
NM_000352.6(ABCC8):c.1525C>A (p.Leu509Met)
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter) rs1591928988
NM_000352.6(ABCC8):c.1548C>T (p.Asn516=) rs776590557
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)
NM_000352.6(ABCC8):c.1571_1588del (p.Thr524_Glu529del)
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu) rs144481621
NM_000352.6(ABCC8):c.157A>G (p.Ser53Gly)
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.6(ABCC8):c.1596C>G (p.Ser532Arg) rs761871453
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter) rs1591832463
NM_000352.6(ABCC8):c.1630+5G>A rs1956364777
NM_000352.6(ABCC8):c.1630+5G>T rs1956364777
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.1672-20A>T rs931436550
NM_000352.6(ABCC8):c.1672-473T>G
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621
NM_000352.6(ABCC8):c.1723G>A (p.Val575Met)
NM_000352.6(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.1768C>G (p.Leu590Val)
NM_000352.6(ABCC8):c.1817+1G>T rs1554926476
NM_000352.6(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.6(ABCC8):c.1818-7del rs1955709311
NM_000352.6(ABCC8):c.1833C>A (p.Ser611Arg) rs763273046
NM_000352.6(ABCC8):c.1849G>A (p.Ala617Thr) rs1955706366
NM_000352.6(ABCC8):c.1880A>G (p.His627Arg)
NM_000352.6(ABCC8):c.1881T>G (p.His627Gln)
NM_000352.6(ABCC8):c.188G>T (p.Ser63Ile)
NM_000352.6(ABCC8):c.1912T>C (p.Tyr638His)
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
NM_000352.6(ABCC8):c.1938G>A (p.Val646=) rs1591797830
NM_000352.6(ABCC8):c.1943G>A (p.Arg648His)
NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp)
NM_000352.6(ABCC8):c.1973G>A (p.Gly658Asp)
NM_000352.6(ABCC8):c.1999G>A (p.Val667Ile)
NM_000352.6(ABCC8):c.2012A>G (p.Asp671Gly)
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr)
NM_000352.6(ABCC8):c.2040+100G>T rs948658520
NM_000352.6(ABCC8):c.2041-12C>A rs201419039
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2041-1G>A rs1554924630
NM_000352.6(ABCC8):c.2041-25G>A rs1554924660
NM_000352.6(ABCC8):c.2057T>A (p.Phe686Tyr) rs1159625966
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly) rs1955658642
NM_000352.6(ABCC8):c.2068C>G (p.Pro690Ala)
NM_000352.6(ABCC8):c.2075G>A (p.Gly692Glu) rs2133535445
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2095A>G (p.Ile699Val)
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)
NM_000352.6(ABCC8):c.2116+1G>A rs1554924540
NM_000352.6(ABCC8):c.2117-10C>A rs886048053
NM_000352.6(ABCC8):c.2117-10C>T rs886048053
NM_000352.6(ABCC8):c.2120A>C (p.Gln707Pro)
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_000352.6(ABCC8):c.2134G>T (p.Val712Leu)
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser) rs1591794677
NM_000352.6(ABCC8):c.214A>G (p.Asn72Asp) rs2133728894
NM_000352.6(ABCC8):c.2153G>T (p.Gly718Val) rs2133531880
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
NM_000352.6(ABCC8):c.2235C>A (p.Ser745Arg) rs200708414
NM_000352.6(ABCC8):c.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2256-16del rs774508952
NM_000352.6(ABCC8):c.2256-9C>T rs886048052
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=) rs1955020359
NM_000352.6(ABCC8):c.2263C>T (p.Arg755Trp)
NM_000352.6(ABCC8):c.2264G>A (p.Arg755Gln)
NM_000352.6(ABCC8):c.2267A>G (p.Glu756Gly)
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs) rs1955018104
NM_000352.6(ABCC8):c.2280C>A (p.Asp760Glu)
NM_000352.6(ABCC8):c.2285A>C (p.Asp762Ala) rs771942551
NM_000352.6(ABCC8):c.2285A>G (p.Asp762Gly) rs771942551
NM_000352.6(ABCC8):c.234C>A (p.Thr78=) rs1591928554
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2477G>A (p.Gly826Asp) rs1954875708
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2527C>G (p.Leu843Val)
NM_000352.6(ABCC8):c.2538C>A (p.His846Gln) rs73423037
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr) rs561593131
NM_000352.6(ABCC8):c.2539G>C (p.Ala847Pro) rs561593131
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn) rs1954765607
NM_000352.6(ABCC8):c.2562C>A (p.Asp854Glu)
NM_000352.6(ABCC8):c.2566T>C (p.Phe856Leu) rs2133461549
NM_000352.6(ABCC8):c.2574T>C (p.Ala858=) rs1954764675
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.6(ABCC8):c.2581_2586dup (p.His862_Leu863insIleHis)
NM_000352.6(ABCC8):c.2583C>G (p.Ile861Met)
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs) rs2133728495
NM_000352.6(ABCC8):c.2602A>G (p.Met868Val) rs2133461403
NM_000352.6(ABCC8):c.2603T>C (p.Met868Thr)
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
NM_000352.6(ABCC8):c.2648T>G (p.Val883Gly) rs1954760501
NM_000352.6(ABCC8):c.267T>G (p.Ile89Met)
NM_000352.6(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
NM_000352.6(ABCC8):c.2694+1G>C rs774574576
NM_000352.6(ABCC8):c.2694+3G>A rs1554914779
NM_000352.6(ABCC8):c.2694+4A>T rs1554914771
NM_000352.6(ABCC8):c.2694+9del rs1564898910
NM_000352.6(ABCC8):c.2695-2A>T rs863225278
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
NM_000352.6(ABCC8):c.2700T>G (p.Ile900Met)
NM_000352.6(ABCC8):c.2709G>A (p.Lys903=) rs1591749128
NM_000352.6(ABCC8):c.2725A>T (p.Arg909Trp)
NM_000352.6(ABCC8):c.2747T>C (p.Phe916Ser)
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter) rs1954644972
NM_000352.6(ABCC8):c.2773G>C (p.Glu925Gln)
NM_000352.6(ABCC8):c.2797C>G (p.Arg933Gly) rs570388861
NM_000352.6(ABCC8):c.279C>T (p.Ile93=) rs550990673
NM_000352.6(ABCC8):c.2803G>A (p.Asp935Asn) rs778384865
NM_000352.6(ABCC8):c.2825C>G (p.Thr942Ser) rs1224638633
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2858A>G (p.Gln953Arg) rs761960758
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly) rs761160857
NM_000352.6(ABCC8):c.2880C>T (p.Ser960=) rs774603418
NM_000352.6(ABCC8):c.2887G>C (p.Asp963His)
NM_000352.6(ABCC8):c.2888A>T (p.Asp963Val)
NM_000352.6(ABCC8):c.2895_2897del (p.Leu966del) rs751964033
NM_000352.6(ABCC8):c.289G>A (p.Gly97Arg)
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.2912A>T (p.Glu971Val) rs1431503235
NM_000352.6(ABCC8):c.2921-1G>A rs772682942
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr) rs568576108
NM_000352.6(ABCC8):c.2941G>A (p.Glu981Lys)
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
NM_000352.6(ABCC8):c.2969A>G (p.His990Arg) rs2133448138
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter) rs1954577994
NM_000352.6(ABCC8):c.2973G>C (p.Gln991His)
NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys) rs1954577653
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.297C>A (p.Thr99=) rs906180828
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3013T>A (p.Ser1005Thr)
NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=) rs149279510
NM_000352.6(ABCC8):c.3047T>C (p.Val1016Ala)
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=) rs1354438772
NM_000352.6(ABCC8):c.3081G>A (p.Val1027=) rs745860035
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs) rs1954568421
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.6(ABCC8):c.3098T>C (p.Leu1033Pro)
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) rs755259997
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter) rs1057516585
NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)
NM_000352.6(ABCC8):c.3129G>A (p.Leu1043=) rs1591744434
NM_000352.6(ABCC8):c.3142A>G (p.Arg1048Gly)
NM_000352.6(ABCC8):c.3147C>A (p.Asn1049Lys) rs1317881086
NM_000352.6(ABCC8):c.3151_3162+15del rs1554912381
NM_000352.6(ABCC8):c.3154C>T (p.Leu1052Phe)
NM_000352.6(ABCC8):c.3172C>T (p.Leu1058Phe) rs1954549447
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=) rs778240883
NM_000352.6(ABCC8):c.3193A>T (p.Met1065Leu)
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.6(ABCC8):c.3289C>T (p.His1097Tyr)
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.3290A>G (p.His1097Arg) rs1352191146
NM_000352.6(ABCC8):c.3318A>C (p.Leu1106=) rs750430789
NM_000352.6(ABCC8):c.3326T>G (p.Met1109Arg)
NM_000352.6(ABCC8):c.3330-13G>A
NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=) rs757191246
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs) rs1954474111
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
NM_000352.6(ABCC8):c.3399+1G>A rs1554911369
NM_000352.6(ABCC8):c.3399+6G>A rs1954472209
NM_000352.6(ABCC8):c.3408A>G (p.Pro1136=)
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr) rs1954422814
NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.6(ABCC8):c.3461C>T (p.Ala1154Val)
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.6(ABCC8):c.3490C>T (p.Leu1164Phe)
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=) rs565968675
NM_000352.6(ABCC8):c.3505C>T (p.Pro1169Ser)
NM_000352.6(ABCC8):c.3511G>A (p.Ala1171Thr)
NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=) rs778961697
NM_000352.6(ABCC8):c.3516C>A (p.Ile1172=) rs142155036
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter) rs1057516439
NM_000352.6(ABCC8):c.3535A>G (p.Lys1179Glu)
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) rs193922399
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs) rs1554910621
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.6(ABCC8):c.3557+1G>T rs1554910610
NM_000352.6(ABCC8):c.3557+1del rs1554910616
NM_000352.6(ABCC8):c.3558-6C>G rs886048050
NM_000352.6(ABCC8):c.3558-7G>T rs900191703
NM_000352.6(ABCC8):c.3573G>A (p.Leu1191=) rs1038735802
NM_000352.6(ABCC8):c.35C>T (p.Ser12Leu) rs1283621955
NM_000352.6(ABCC8):c.3622G>A (p.Glu1208Lys)
NM_000352.6(ABCC8):c.362T>C (p.Val121Ala) rs2133711122
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly) rs770028071
NM_000352.6(ABCC8):c.3650+2T>A rs1057517274
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000352.6(ABCC8):c.3650+5G>A
NM_000352.6(ABCC8):c.3650+9C>A rs1591730796
NM_000352.6(ABCC8):c.3651-4C>G rs1954058406
NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=) rs370636988
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.371A>G (p.Tyr124Cys)
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3753+10A>G rs1591718533
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.3753+2C>T rs760196276
NM_000352.6(ABCC8):c.3753+6T>C
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3754-2A>G rs1554906450
NM_000352.6(ABCC8):c.3754-6C>T rs1591717230
NM_000352.6(ABCC8):c.3755A>G (p.Glu1252Gly) rs797045210
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
NM_000352.6(ABCC8):c.3785C>T (p.Ala1262Val)
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3800T>C (p.Ile1267Thr)
NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp) rs1554906389
NM_000352.6(ABCC8):c.3839T>C (p.Val1280Ala)
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs) rs1953988179
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.6(ABCC8):c.3926G>A (p.Gly1309Glu)
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.3995C>T (p.Ser1332Leu)
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.4012T>C (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.4016C>A (p.Pro1339Gln)
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs) rs1554905787
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4043A>G (p.Asn1348Ser) rs1554905775
NM_000352.6(ABCC8):c.4057T>C (p.Tyr1353His)
NM_000352.6(ABCC8):c.405G>C (p.Leu135=) rs1591916038
NM_000352.6(ABCC8):c.4062C>T (p.Asp1354=) rs1591714060
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
NM_000352.6(ABCC8):c.4078G>A (p.Val1360Met) rs1953962707
NM_000352.6(ABCC8):c.4089C>T (p.His1363=) rs1211875269
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.6(ABCC8):c.4099C>T (p.Leu1367Phe)
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del) rs1554905655
NM_000352.6(ABCC8):c.4119+1del rs1057517050
NM_000352.6(ABCC8):c.4120-1G>T rs1057517406
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
NM_000352.6(ABCC8):c.4124G>C (p.Gly1375Ala) rs1953901271
NM_000352.6(ABCC8):c.413-2A>G rs1057517015
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs) rs1953899672
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=) rs574684578
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs) rs1554905145
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) rs387906408
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val) rs1953897394
NM_000352.6(ABCC8):c.4180A>G (p.Met1394Val) rs562677120
NM_000352.6(ABCC8):c.4199-2A>G rs1953885548
NM_000352.6(ABCC8):c.4199-6A>G rs1591710040
NM_000352.6(ABCC8):c.4199-8C>T rs886048048
NM_000352.6(ABCC8):c.4203C>T (p.His1401=) rs1953885229
NM_000352.6(ABCC8):c.4208T>C (p.Ile1403Thr) rs2133401418
NM_000352.6(ABCC8):c.4210_4212del (p.Ile1404del)
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=) rs373478721
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu) rs1446306735
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser) rs1564874456
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro) rs1953879871
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4280A>T (p.Asp1427Val) rs1591709652
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=) rs1334003978
NM_000352.6(ABCC8):c.4307+13A>C rs886048047
NM_000352.6(ABCC8):c.4307+13A>G rs886048047
NM_000352.6(ABCC8):c.4307+9del rs1564874257
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs) rs1554904554
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4361T>G (p.Leu1454Arg) rs2133398519
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val) rs1953847411
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4400C>T (p.Pro1467Leu)
NM_000352.6(ABCC8):c.4406G>A (p.Gly1469Asp)
NM_000352.6(ABCC8):c.4412-2A>G rs1554904136
NM_000352.6(ABCC8):c.4438A>C (p.Asn1480His) rs1591705863
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000352.6(ABCC8):c.4438A>T (p.Asn1480Tyr) rs1591705863
NM_000352.6(ABCC8):c.4439A>C (p.Asn1480Thr) rs2133395261
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
NM_000352.6(ABCC8):c.4444A>C (p.Ser1482Arg) rs2133395244
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) rs1554904102
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs) rs863225279
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
NM_000352.6(ABCC8):c.4469G>A (p.Cys1490Tyr) rs1180424930
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs) rs1057516655
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs) rs1953791177
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
NM_000352.6(ABCC8):c.4527T>G (p.Ala1509=) rs1953787387
NM_000352.6(ABCC8):c.4533T>G (p.Ile1511Met)
NM_000352.6(ABCC8):c.4545+2T>G rs1554904006
NM_000352.6(ABCC8):c.4545+4G>A rs760433463
NM_000352.6(ABCC8):c.4545+4G>C rs760433463
NM_000352.6(ABCC8):c.4546-6T>A rs2133393272
NM_000352.6(ABCC8):c.4546-8C>T rs1273503048
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) rs193922406
NM_000352.6(ABCC8):c.4555C>T (p.Leu1519Phe) rs2133393193
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.4577C>G (p.Ala1526Gly)
NM_000352.6(ABCC8):c.4589G>A (p.Arg1530His)
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.6(ABCC8):c.4591A>G (p.Thr1531Ala) rs796891223
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.4606G>A (p.Ala1536Thr)
NM_000352.6(ABCC8):c.4606G>C (p.Ala1536Pro)
NM_000352.6(ABCC8):c.460T>G (p.Phe154Val) rs2133687586
NM_000352.6(ABCC8):c.4612C>G (p.Arg1538Gly) rs1411638309
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
NM_000352.6(ABCC8):c.4674G>C (p.Glu1558Asp)
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.6(ABCC8):c.46C>T (p.Arg16Trp) rs1591935006
NM_000352.6(ABCC8):c.4729G>A (p.Val1577Ile)
NM_000352.6(ABCC8):c.4733G>C (p.Arg1578Pro)
NM_000352.6(ABCC8):c.4C>T (p.Pro2Ser) rs756552692
NM_000352.6(ABCC8):c.508T>G (p.Cys170Gly) rs1847954058
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.526dup (p.Val176fs) rs1847952281
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.546G>A (p.Leu182=) rs1591896019
NM_000352.6(ABCC8):c.553G>A (p.Val185Met)
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn) rs1957204723
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del) rs772409200
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
NM_000352.6(ABCC8):c.602C>A (p.Pro201Gln)
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
NM_000352.6(ABCC8):c.639G>A (p.Leu213=) rs1483834388
NM_000352.6(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.6(ABCC8):c.647G>C (p.Arg216Pro)
NM_000352.6(ABCC8):c.653T>C (p.Leu218Pro) rs2133680172
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000352.6(ABCC8):c.725del (p.Lys242fs) rs1957196622
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr) rs1433841842
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val) rs763302648
NM_000352.6(ABCC8):c.765C>G (p.Ile255Met) rs753335564
NM_000352.6(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000352.6(ABCC8):c.797T>C (p.Leu266Pro)
NM_000352.6(ABCC8):c.79T>G (p.Phe27Val) rs1202763483
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val) rs372930264
NM_000352.6(ABCC8):c.822+9G>A rs1007498516
NM_000352.6(ABCC8):c.823-1G>A rs1247430874
NM_000352.6(ABCC8):c.823-7T>A rs1554942148
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
NM_000352.6(ABCC8):c.84G>A (p.Val28=)
NM_000352.6(ABCC8):c.851C>T (p.Ala284Val)
NM_000352.6(ABCC8):c.854G>A (p.Arg285Gln)
NM_000352.6(ABCC8):c.86A>G (p.Asp29Gly)
NM_000352.6(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000352.6(ABCC8):c.878A>G (p.His293Arg) rs587783175
NM_000352.6(ABCC8):c.881C>A (p.Ala294Asp) rs1957153674
NM_000352.6(ABCC8):c.88G>A (p.Ala30Thr)
NM_000352.6(ABCC8):c.890G>T (p.Arg297Met) rs371802112
NM_000352.6(ABCC8):c.899T>C (p.Val300Ala) rs2133674861
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser) rs751228166
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000352.6(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
NM_000352.6(ABCC8):c.947G>A (p.Gly316Glu) rs797045214
NM_000352.6(ABCC8):c.949C>A (p.Pro317Thr)
NM_000352.6(ABCC8):c.951A>G (p.Pro317=) rs1591885314
NM_000352.6(ABCC8):c.954G>C (p.Leu318=) rs771014822
NM_000352.6(ABCC8):c.97G>A (p.Val33Met) rs768372267
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)

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