ClinVar Miner

List of variants in gene ABCC8 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1626
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
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.1686C>T (p.His562=) rs1799857 0.44260
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000352.6(ABCC8):c.1672-74G>A rs2074308 0.11501
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
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.3329+6C>T rs113873225 0.01304
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.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.4545+13C>T rs78338172 0.00212
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.1332+4del rs587783164 0.00128
NM_000352.6(ABCC8):c.1177-56G>A rs183921963 0.00123
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000352.6(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.1924-17C>T rs117189973 0.00105
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_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
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.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.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) rs193922403 0.00019
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly) rs538013271 0.00017
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
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.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.3513C>T (p.Ala1171=) rs778961697 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.4425A>G (p.Thr1475=) rs368134766 0.00009
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=) rs150956385 0.00008
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=) rs368782953 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.765C>T (p.Ile255=) rs753335564 0.00008
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.3516C>T (p.Ile1172=) rs142155036 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.4719C>T (p.Phe1573=) rs772045105 0.00006
NM_000352.6(ABCC8):c.621C>T (p.Pro207=) rs765043940 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.2883G>A (p.Ser961=) rs556416269 0.00005
NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=) rs746146690 0.00005
NM_000352.6(ABCC8):c.4059C>T (p.Tyr1353=) rs374602183 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.1281G>A (p.Gln427=) rs112488640 0.00004
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.1764A>T (p.Thr588=) rs764095167 0.00004
NM_000352.6(ABCC8):c.1860T>G (p.Arg620=) rs745600400 0.00004
NM_000352.6(ABCC8):c.1924-10C>T rs200823913 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.2117-12C>A rs193922398 0.00004
NM_000352.6(ABCC8):c.2117-16C>T rs780203710 0.00004
NM_000352.6(ABCC8):c.2274G>A (p.Ala758=) rs761258571 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 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.3492C>T (p.Leu1164=) rs376769951 0.00004
NM_000352.6(ABCC8):c.3558-7G>A rs900191703 0.00004
NM_000352.6(ABCC8):c.3564G>A (p.Leu1188=) rs751836972 0.00004
NM_000352.6(ABCC8):c.3603A>G (p.Ser1201=) rs145874746 0.00004
NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=) rs775134825 0.00004
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066 0.00004
NM_000352.6(ABCC8):c.3885C>T (p.Asn1295=) rs542157938 0.00004
NM_000352.6(ABCC8):c.3948G>A (p.Gly1316=) rs750535719 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.4122C>T (p.Ile1374=) rs75218493 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000352.6(ABCC8):c.4284C>T (p.Pro1428=) rs986616476 0.00004
NM_000352.6(ABCC8):c.4515C>T (p.Asp1505=) rs751591418 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00004
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln) rs374743072 0.00004
NM_000352.6(ABCC8):c.480C>T (p.His160=) rs769858502 0.00004
NM_000352.6(ABCC8):c.495G>A (p.Ser165=) rs369136858 0.00004
NM_000352.6(ABCC8):c.552C>T (p.Leu184=) rs151211613 0.00004
NM_000352.6(ABCC8):c.627C>T (p.Asp209=) rs80356640 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000352.6(ABCC8):c.735C>T (p.Ile245=) rs535141079 0.00004
NM_000352.6(ABCC8):c.90G>A (p.Ala30=) rs377209579 0.00004
NM_000352.6(ABCC8):c.942C>T (p.Phe314=) rs768582290 0.00004
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.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.2235C>T (p.Ser745=) rs200708414 0.00003
NM_000352.6(ABCC8):c.2526C>A (p.Ala842=) rs760401293 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.3018C>T (p.Ser1006=) rs149279510 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.3465C>G (p.Val1155=) rs368044193 0.00003
NM_000352.6(ABCC8):c.3558-10C>T rs767866373 0.00003
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=) rs372186045 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.4608+10C>T rs754304889 0.00003
NM_000352.6(ABCC8):c.603G>A (p.Pro201=) rs765113879 0.00003
NM_000352.6(ABCC8):c.822+7G>A rs765890511 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.1101A>T (p.Leu367=) rs778750377 0.00002
NM_000352.6(ABCC8):c.1176+7G>A rs1165894128 0.00002
NM_000352.6(ABCC8):c.1257T>C (p.Asn419=) rs773068195 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 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.1722C>T (p.Ser574=) rs1471889041 0.00002
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=) rs550788491 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=) rs371181016 0.00002
NM_000352.6(ABCC8):c.1817+8G>A rs781153278 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.2178A>G (p.Ala726=) rs747902103 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=) rs754554936 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.2921-4G>T rs762652829 0.00002
NM_000352.6(ABCC8):c.3021C>T (p.Ala1007=) rs556199509 0.00002
NM_000352.6(ABCC8):c.303C>A (p.Ser101=) rs767866154 0.00002
NM_000352.6(ABCC8):c.3063C>A (p.Leu1021=) rs372504462 0.00002
NM_000352.6(ABCC8):c.3117C>T (p.Ser1039=) rs199723884 0.00002
NM_000352.6(ABCC8):c.3156C>T (p.Leu1052=) rs145811577 0.00002
NM_000352.6(ABCC8):c.3303A>G (p.Leu1101=) rs760668370 0.00002
NM_000352.6(ABCC8):c.3329+8T>C rs912178241 0.00002
NM_000352.6(ABCC8):c.3486G>T (p.Val1162=) rs151203959 0.00002
NM_000352.6(ABCC8):c.3557+20G>C rs764779784 0.00002
NM_000352.6(ABCC8):c.3855C>T (p.Thr1285=) rs56924677 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.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.414C>T (p.Ala138=) rs372766371 0.00002
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser) rs781090024 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000352.6(ABCC8):c.4359C>T (p.Ala1453=) rs769435360 0.00002
NM_000352.6(ABCC8):c.4412-4T>G rs1476016104 0.00002
NM_000352.6(ABCC8):c.4476C>T (p.Ala1492=) rs776110275 0.00002
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=) rs773042150 0.00002
NM_000352.6(ABCC8):c.4608+9C>G rs757297282 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_000352.6(ABCC8):c.750C>T (p.Ile250=) rs566527939 0.00002
NM_000352.6(ABCC8):c.813C>T (p.Asp271=) rs569222899 0.00002
NM_000352.6(ABCC8):c.87C>T (p.Asp29=) rs1166883099 0.00002
NM_000352.6(ABCC8):c.969C>T (p.Ile323=) rs748659098 0.00002
NM_000352.4(ABCC8):c.-190C>G rs1395224084 0.00001
NM_000352.6(ABCC8):c.1023C>T (p.Leu341=) rs199592045 0.00001
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672 0.00001
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=) rs776713811 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.1176+2T>C rs750586210 0.00001
NM_000352.6(ABCC8):c.1176+8G>C rs368435632 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.1203C>T (p.His401=) rs1591846346 0.00001
NM_000352.6(ABCC8):c.1212C>T (p.Thr404=) rs138386829 0.00001
NM_000352.6(ABCC8):c.1242T>C (p.Ala414=) rs563592305 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.126C>T (p.Ile42=) rs369059273 0.00001
NM_000352.6(ABCC8):c.1332+7G>C rs1380934116 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu) rs267606623 0.00001
NM_000352.6(ABCC8):c.1392A>G (p.Ala464=) rs781312990 0.00001
NM_000352.6(ABCC8):c.1434C>T (p.Ala478=) rs200303681 0.00001
NM_000352.6(ABCC8):c.1467+9C>T rs774224706 0.00001
NM_000352.6(ABCC8):c.148+13A>C rs773823246 0.00001
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp) rs775894336 0.00001
NM_000352.6(ABCC8):c.149-8C>T rs1480852254 0.00001
NM_000352.6(ABCC8):c.1497C>G (p.Thr499=) rs745884500 0.00001
NM_000352.6(ABCC8):c.1500C>T (p.Asn500=) rs779078905 0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815 0.00001
NM_000352.6(ABCC8):c.1527G>A (p.Leu509=) rs765924728 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.1551C>T (p.Ile517=) rs1279186188 0.00001
NM_000352.6(ABCC8):c.1560G>A (p.Thr520=) rs771102562 0.00001
NM_000352.6(ABCC8):c.1563G>A (p.Arg521=) rs1481558083 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=) rs750360514 0.00001
NM_000352.6(ABCC8):c.1608T>C (p.Phe536=) rs753618932 0.00001
NM_000352.6(ABCC8):c.1620C>T (p.Thr540=) rs199822807 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.165C>T (p.Ser55=) rs1591928903 0.00001
NM_000352.6(ABCC8):c.1677C>T (p.Phe559=) rs772622250 0.00001
NM_000352.6(ABCC8):c.1683C>T (p.Gly561=) rs770543163 0.00001
NM_000352.6(ABCC8):c.1692C>T (p.Ser564=) rs777182988 0.00001
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg) rs762919223 0.00001
NM_000352.6(ABCC8):c.1779G>A (p.Leu593=) rs538435990 0.00001
NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile) rs1955813180 0.00001
NM_000352.6(ABCC8):c.1817+7G>A rs748084178 0.00001
NM_000352.6(ABCC8):c.1818-7C>T rs17846731 0.00001
NM_000352.6(ABCC8):c.1830A>G (p.Leu610=) rs150839950 0.00001
NM_000352.6(ABCC8):c.1833C>T (p.Ser611=) rs763273046 0.00001
NM_000352.6(ABCC8):c.1869G>A (p.Gln623=) rs1487225445 0.00001
NM_000352.6(ABCC8):c.1924-9C>T rs1218098329 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.2061G>A (p.Thr687=) rs1236747090 0.00001
NM_000352.6(ABCC8):c.2116+2T>C rs786204676 0.00001
NM_000352.6(ABCC8):c.2145G>A (p.Val715=) rs1258771829 0.00001
NM_000352.6(ABCC8):c.2169T>C (p.Leu723=) rs1591794603 0.00001
NM_000352.6(ABCC8):c.2175C>T (p.Ala725=) rs140109097 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.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2222+8A>G rs200118912 0.00001
NM_000352.6(ABCC8):c.2223-4G>T rs1040460617 0.00001
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=) rs757507467 0.00001
NM_000352.6(ABCC8):c.222G>T (p.Arg74=) rs745544561 0.00001
NM_000352.6(ABCC8):c.2232C>T (p.Asp744=) rs1421469992 0.00001
NM_000352.6(ABCC8):c.2236G>A (p.Glu746Lys) rs753296261 0.00001
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg) rs757961130 0.00001
NM_000352.6(ABCC8):c.228C>T (p.Ile76=) rs773812588 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.231G>A (p.Leu77=) rs995709683 0.00001
NM_000352.6(ABCC8):c.2487G>A (p.Leu829=) rs550307286 0.00001
NM_000352.6(ABCC8):c.2490T>C (p.Ser830=) rs1348144308 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>T rs749271190 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2619T>G (p.Leu873=) rs756718678 0.00001
NM_000352.6(ABCC8):c.2652C>G (p.Val884=) rs749936649 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.2751G>A (p.Gln917=) rs769982482 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.2820+7A>G rs752517462 0.00001
NM_000352.6(ABCC8):c.282G>C (p.Leu94=) rs757467422 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.288T>C (p.Asp96=) rs754396065 0.00001
NM_000352.6(ABCC8):c.291-8C>T rs370095966 0.00001
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=) rs1954592292 0.00001
NM_000352.6(ABCC8):c.2921-10C>T rs774744232 0.00001
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010 0.00001
NM_000352.6(ABCC8):c.2973G>A (p.Gln991=) rs369865194 0.00001
NM_000352.6(ABCC8):c.297C>T (p.Thr99=) rs906180828 0.00001
NM_000352.6(ABCC8):c.2982G>A (p.Glu994=) rs763160961 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.3027C>T (p.Ile1009=) rs751662850 0.00001
NM_000352.6(ABCC8):c.3033C>A (p.Leu1011=) rs1366552614 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.30C>T (p.Asn10=) rs1284894054 0.00001
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=) rs1387302006 0.00001
NM_000352.6(ABCC8):c.3189T>C (p.Tyr1063=) rs751097386 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.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.333G>A (p.Gly111=) rs1410838503 0.00001
NM_000352.6(ABCC8):c.3375A>G (p.Ser1125=) rs1954474434 0.00001
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=) rs776975807 0.00001
NM_000352.6(ABCC8):c.339G>A (p.Ala113=) rs1161988958 0.00001
NM_000352.6(ABCC8):c.3489C>T (p.Phe1163=) rs1456297535 0.00001
NM_000352.6(ABCC8):c.3537G>A (p.Lys1179=) rs146574155 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 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.3594A>G (p.Pro1198=) rs1242456806 0.00001
NM_000352.6(ABCC8):c.3606C>T (p.His1202=) rs1288677984 0.00001
NM_000352.6(ABCC8):c.360C>T (p.Ser120=) rs1374113973 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.3651-1G>C rs768820409 0.00001
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=) rs769968875 0.00001
NM_000352.6(ABCC8):c.3681C>T (p.Leu1227=) rs370636988 0.00001
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281 0.00001
NM_000352.6(ABCC8):c.3759C>T (p.Tyr1253=) rs1005064056 0.00001
NM_000352.6(ABCC8):c.3762C>T (p.Ile1254=) rs761017115 0.00001
NM_000352.6(ABCC8):c.3783C>T (p.Ile1261=) rs1489516654 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 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.3868-6C>A rs751658705 0.00001
NM_000352.6(ABCC8):c.3909C>T (p.Asp1303=) rs1015622529 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3988+14G>A rs770990642 0.00001
NM_000352.6(ABCC8):c.3988+2T>C rs745349258 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4023A>G (p.Gln1341=) rs1015735730 0.00001
NM_000352.6(ABCC8):c.4032C>T (p.Ile1344=) rs1230698351 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 0.00001
NM_000352.6(ABCC8):c.4092C>T (p.Val1364=) rs150151029 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.412+7G>A rs902557011 0.00001
NM_000352.6(ABCC8):c.413-6C>T rs373759803 0.00001
NM_000352.6(ABCC8):c.4131C>T (p.Cys1377=) rs541612031 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe) rs72559718 0.00001
NM_000352.6(ABCC8):c.4191G>A (p.Thr1397=) rs758767782 0.00001
NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=) rs746249607 0.00001
NM_000352.6(ABCC8):c.4230C>T (p.Ala1410=) rs1471646541 0.00001
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=) rs965734923 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.428G>A (p.Trp143Ter) rs1395990892 0.00001
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=) rs752222583 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4307+10A>G rs994328816 0.00001
NM_000352.6(ABCC8):c.4307+8C>G rs1448472548 0.00001
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=) rs752809991 0.00001
NM_000352.6(ABCC8):c.4344C>T (p.Ser1448=) rs1156980364 0.00001
NM_000352.6(ABCC8):c.4347A>G (p.Thr1449=) rs1953848786 0.00001
NM_000352.6(ABCC8):c.4350G>A (p.Leu1450=) rs763277685 0.00001
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr) rs72559717 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000352.6(ABCC8):c.4389G>A (p.Val1463=) rs1014389339 0.00001
NM_000352.6(ABCC8):c.4411+9T>C rs754903921 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.441C>T (p.Phe147=) rs1847961858 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424 0.00001
NM_000352.6(ABCC8):c.4478G>T (p.Arg1493Leu) rs746480424 0.00001
NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=) rs267602801 0.00001
NM_000352.6(ABCC8):c.4497C>G (p.Thr1499=) rs1388321223 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.4569G>A (p.Val1523=) rs1953753838 0.00001
NM_000352.6(ABCC8):c.459G>A (p.Lys153=) rs1847959301 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.4628T>C (p.Leu1543Pro) rs72559713 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.4722C>T (p.Ala1574=) rs1237790382 0.00001
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser) rs574487898 0.00001
NM_000352.6(ABCC8):c.48G>A (p.Arg16=) rs750383415 0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys) rs756823374 0.00001
NM_000352.6(ABCC8):c.504C>T (p.Arg168=) rs139224499 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.519G>C (p.Gly173=) rs759354601 0.00001
NM_000352.6(ABCC8):c.537T>C (p.Tyr179=) rs761881203 0.00001
NM_000352.6(ABCC8):c.564T>C (p.Asn188=) rs1410002309 0.00001
NM_000352.6(ABCC8):c.573G>A (p.Arg191=) rs1246132765 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.63C>T (p.Val21=) rs1848805383 0.00001
NM_000352.6(ABCC8):c.642G>A (p.Gly214=) rs767485742 0.00001
NM_000352.6(ABCC8):c.660C>T (p.Pro220=) rs773643362 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.690C>T (p.Tyr230=) rs1431845959 0.00001
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter) rs1957198348 0.00001
NM_000352.6(ABCC8):c.705C>T (p.Ala235=) rs927085380 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.885C>T (p.Phe295=) rs778990778 0.00001
NM_000352.6(ABCC8):c.894C>A (p.Arg298=) rs375094504 0.00001
NM_000352.6(ABCC8):c.927C>T (p.Ala309=) rs543571996 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) rs776498313 0.00001
NM_000352.6(ABCC8):c.970G>A (p.Val324Met) rs1328072266 0.00001
NM_000352.6(ABCC8):c.985A>T (p.Lys329Ter) rs1957147183 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
NC_000011.10:g.(?_17416920)_(17432254_?)del
NC_000011.10:g.17395719del rs2133401493
NC_000011.9:g.(?_17414433)_(17438525_?)del
NC_000011.9:g.(?_17433888)_(17434943_?)del
NC_000011.9:g.(?_17448586)_(17453801_?)del
NC_000011.9:g.(?_17464257)_(17464869_?)del
NC_000011.9:g.(?_17464257)_(17474840_?)del
NC_000011.9:g.(?_17482025)_(17498513_?)del
NM_000352.6(ABCC8):c.-64C>G
NM_000352.6(ABCC8):c.-9_1dup (p.Met1fs)
NM_000352.6(ABCC8):c.1003C>T (p.Gln335Ter) rs2133674070
NM_000352.6(ABCC8):c.1008C>A (p.Pro336=) rs1199327855
NM_000352.6(ABCC8):c.1008C>G (p.Pro336=)
NM_000352.6(ABCC8):c.1011+11C>T
NM_000352.6(ABCC8):c.1011+12C>A
NM_000352.6(ABCC8):c.1011+12C>T
NM_000352.6(ABCC8):c.1011+15G>C
NM_000352.6(ABCC8):c.1011+16G>T
NM_000352.6(ABCC8):c.1011+17del
NM_000352.6(ABCC8):c.1011+20G>A
NM_000352.6(ABCC8):c.1012-16C>T
NM_000352.6(ABCC8):c.1012-17A>T
NM_000352.6(ABCC8):c.1012-19G>A
NM_000352.6(ABCC8):c.1012-19G>T
NM_000352.6(ABCC8):c.1012-20T>C
NM_000352.6(ABCC8):c.1012-6C>T rs764178736
NM_000352.6(ABCC8):c.1015C>A (p.Gln339Lys) rs2133642509
NM_000352.6(ABCC8):c.1017A>G (p.Gln339=)
NM_000352.6(ABCC8):c.1041A>C (p.Ser347=)
NM_000352.6(ABCC8):c.1059C>T (p.Ala353=)
NM_000352.6(ABCC8):c.105G>C (p.Pro35=) rs199925058
NM_000352.6(ABCC8):c.1062T>C (p.Asn354=)
NM_000352.6(ABCC8):c.1065C>T (p.Ala355=) rs2133642194
NM_000352.6(ABCC8):c.1068C>G (p.Tyr356Ter)
NM_000352.6(ABCC8):c.1072T>C (p.Leu358=)
NM_000352.6(ABCC8):c.1074A>G (p.Leu358=)
NM_000352.6(ABCC8):c.1080G>A (p.Val360=) rs2133642076
NM_000352.6(ABCC8):c.1086G>A (p.Leu362=)
NM_000352.6(ABCC8):c.1098C>T (p.Leu366=) rs2133641985
NM_000352.6(ABCC8):c.1099C>T (p.Leu367=)
NM_000352.6(ABCC8):c.1113A>G (p.Thr371=) rs2133641898
NM_000352.6(ABCC8):c.1119G>C (p.Leu373=)
NM_000352.6(ABCC8):c.111C>A (p.Val37=) rs2133737414
NM_000352.6(ABCC8):c.1125A>G (p.Ala375=)
NM_000352.6(ABCC8):c.1140C>T (p.Ala380=)
NM_000352.6(ABCC8):c.1143T>C (p.Ile381=) rs752694285
NM_000352.6(ABCC8):c.1149T>C (p.Thr383=)
NM_000352.6(ABCC8):c.1159T>C (p.Leu387=) rs2133641674
NM_000352.6(ABCC8):c.1176+10T>A rs762053701
NM_000352.6(ABCC8):c.1176+10T>C
NM_000352.6(ABCC8):c.1176+16T>C
NM_000352.6(ABCC8):c.1177-13C>T
NM_000352.6(ABCC8):c.1177-14G>T
NM_000352.6(ABCC8):c.1177-1G>C
NM_000352.6(ABCC8):c.1177-53G>C rs2133617921
NM_000352.6(ABCC8):c.1177-53_1177-42del rs1306338725
NM_000352.6(ABCC8):c.1177-53_1177-51del rs1271038564
NM_000352.6(ABCC8):c.1177-8A>G rs1157706102
NM_000352.6(ABCC8):c.117A>G (p.Leu39=) rs750318681
NM_000352.6(ABCC8):c.1188C>T (p.Tyr396=) rs2133617586
NM_000352.6(ABCC8):c.1204C>T (p.Leu402=)
NM_000352.6(ABCC8):c.120C>A (p.Leu40=)
NM_000352.6(ABCC8):c.120C>G (p.Leu40=)
NM_000352.6(ABCC8):c.1223C>A (p.Ser408Tyr)
NM_000352.6(ABCC8):c.1248G>A (p.Gln416=)
NM_000352.6(ABCC8):c.1258C>T (p.Leu420=)
NM_000352.6(ABCC8):c.1261G>T (p.Val421Phe)
NM_000352.6(ABCC8):c.1266C>T (p.Ala422=)
NM_000352.6(ABCC8):c.1269C>T (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1272C>T (p.Asp424=) rs2133617086
NM_000352.6(ABCC8):c.1275C>T (p.Thr425=) rs2133617056
NM_000352.6(ABCC8):c.1277A>G (p.Asn426Ser)
NM_000352.6(ABCC8):c.1284C>T (p.Leu428=)
NM_000352.6(ABCC8):c.1296C>T (p.Phe432=) rs1591845922
NM_000352.6(ABCC8):c.1302G>A (p.Leu434=)
NM_000352.6(ABCC8):c.1314C>G (p.Leu438=)
NM_000352.6(ABCC8):c.1329A>G (p.Val443=)
NM_000352.6(ABCC8):c.132C>T (p.Phe44=)
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter) rs2133616750
NM_000352.6(ABCC8):c.1332+11G>C
NM_000352.6(ABCC8):c.1332+13C>T
NM_000352.6(ABCC8):c.1332+17G>C rs193922395
NM_000352.6(ABCC8):c.1332+19G>A
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.1333-20A>C
NM_000352.6(ABCC8):c.1333-4T>C
NM_000352.6(ABCC8):c.1344T>C (p.Gly448=) rs2133597932
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1353C>T (p.Leu451=) rs2133597877
NM_000352.6(ABCC8):c.135C>T (p.Pro45=) rs763901452
NM_000352.6(ABCC8):c.1368C>G (p.Leu456=)
NM_000352.6(ABCC8):c.1369G>T (p.Gly457Ter) rs771959876
NM_000352.6(ABCC8):c.1401C>T (p.Ile467=)
NM_000352.6(ABCC8):c.1412C>A (p.Ala471Asp)
NM_000352.6(ABCC8):c.1416T>C (p.Pro472=) rs1391155490
NM_000352.6(ABCC8):c.141C>T (p.Leu47=)
NM_000352.6(ABCC8):c.1428C>T (p.Phe476=) rs867541142
NM_000352.6(ABCC8):c.1431G>A (p.Val477=)
NM_000352.6(ABCC8):c.1437del (p.Lys480fs)
NM_000352.6(ABCC8):c.144C>T (p.Phe48=) rs1591934251
NM_000352.6(ABCC8):c.1452_1461del (p.Gln485fs)
NM_000352.6(ABCC8):c.1453C>T (p.Gln485Ter) rs1956391008
NM_000352.6(ABCC8):c.1455G>A (p.Gln485=) rs2133597391
NM_000352.6(ABCC8):c.1456C>T (p.Arg486Trp)
NM_000352.6(ABCC8):c.1458G>A (p.Arg486=)
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val) rs1554949196
NM_000352.6(ABCC8):c.1465C>T (p.Leu489=) rs374289323
NM_000352.6(ABCC8):c.1467+12A>G
NM_000352.6(ABCC8):c.1467+15G>A
NM_000352.6(ABCC8):c.1467+15G>T
NM_000352.6(ABCC8):c.1467+16T>G
NM_000352.6(ABCC8):c.1467+8C>G rs1218507375
NM_000352.6(ABCC8):c.1468-10A>G rs769767231
NM_000352.6(ABCC8):c.1468-10A>T rs769767231
NM_000352.6(ABCC8):c.1468-15C>G
NM_000352.6(ABCC8):c.1468-15C>T
NM_000352.6(ABCC8):c.1468-16T>A
NM_000352.6(ABCC8):c.1468-4G>A rs2133596225
NM_000352.6(ABCC8):c.1468-7C>T
NM_000352.6(ABCC8):c.1468-8C>T
NM_000352.6(ABCC8):c.1468-9C>A
NM_000352.6(ABCC8):c.1468-9C>G
NM_000352.6(ABCC8):c.1470G>A (p.Glu490=) rs1023614861
NM_000352.6(ABCC8):c.1473T>G (p.Tyr491Ter)
NM_000352.6(ABCC8):c.1476C>T (p.Ser492=) rs1956374784
NM_000352.6(ABCC8):c.148+11G>A
NM_000352.6(ABCC8):c.148+11G>C
NM_000352.6(ABCC8):c.148+11G>T
NM_000352.6(ABCC8):c.148+12C>G
NM_000352.6(ABCC8):c.148+16G>A
NM_000352.6(ABCC8):c.148+16G>T
NM_000352.6(ABCC8):c.148+19C>A
NM_000352.6(ABCC8):c.148+1del rs2133737085
NM_000352.6(ABCC8):c.148+20C>G
NM_000352.6(ABCC8):c.148+2T>C rs1554949176
NM_000352.6(ABCC8):c.148+2T>G rs1554949176
NM_000352.6(ABCC8):c.148+7G>A rs2133737034
NM_000352.6(ABCC8):c.148+8C>A
NM_000352.6(ABCC8):c.148+8C>T
NM_000352.6(ABCC8):c.148+9G>A
NM_000352.6(ABCC8):c.148+9_148+10delinsTA rs2133737010
NM_000352.6(ABCC8):c.1482G>A (p.Glu494=)
NM_000352.6(ABCC8):c.149-14G>A
NM_000352.6(ABCC8):c.149-15T>G rs1469422468
NM_000352.6(ABCC8):c.149-5T>C rs2133729391
NM_000352.6(ABCC8):c.149-7C>A
NM_000352.6(ABCC8):c.149-7C>T
NM_000352.6(ABCC8):c.1497C>T (p.Thr499=)
NM_000352.6(ABCC8):c.1502A>C (p.Glu501Ala)
NM_000352.6(ABCC8):c.1511G>A (p.Arg504His)
NM_000352.6(ABCC8):c.1512C>G (p.Arg504=) rs148811815
NM_000352.6(ABCC8):c.1513G>C (p.Gly505Arg)
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter) rs1591928988
NM_000352.6(ABCC8):c.1530G>A (p.Lys510=) rs762783893
NM_000352.6(ABCC8):c.1536C>A (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1548C>T (p.Asn516=) rs776590557
NM_000352.6(ABCC8):c.1553del (p.Phe518fs) rs2133595741
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)
NM_000352.6(ABCC8):c.1572G>C (p.Thr524=)
NM_000352.6(ABCC8):c.1572G>T (p.Thr524=)
NM_000352.6(ABCC8):c.1575C>T (p.Thr525=)
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu) rs144481621
NM_000352.6(ABCC8):c.1584G>A (p.Lys528=)
NM_000352.6(ABCC8):c.1587G>A (p.Glu529=) rs2133595398
NM_000352.6(ABCC8):c.1593C>A (p.Thr531=) rs2133595358
NM_000352.6(ABCC8):c.1593C>T (p.Thr531=) rs2133595358
NM_000352.6(ABCC8):c.1598T>C (p.Leu533Pro) rs1419269417
NM_000352.6(ABCC8):c.1599C>A (p.Leu533=)
NM_000352.6(ABCC8):c.159T>C (p.Ser53=)
NM_000352.6(ABCC8):c.15C>T (p.Phe5=) rs2133738324
NM_000352.6(ABCC8):c.1602G>A (p.Arg534=) rs1461602097
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter) rs1591832463
NM_000352.6(ABCC8):c.1617T>C (p.Tyr539=) rs1591832463
NM_000352.6(ABCC8):c.1630+10C>A rs188075767
NM_000352.6(ABCC8):c.1630+15C>T
NM_000352.6(ABCC8):c.1630+16A>T
NM_000352.6(ABCC8):c.1630+17C>T rs575209268
NM_000352.6(ABCC8):c.1630+7T>C
NM_000352.6(ABCC8):c.1630+8C>A
NM_000352.6(ABCC8):c.1630+9A>G
NM_000352.6(ABCC8):c.1631-10T>C
NM_000352.6(ABCC8):c.1631-10_1631-9insTAAACGCCTCCCTGTGCTTT
NM_000352.6(ABCC8):c.1631-13G>A
NM_000352.6(ABCC8):c.1631-13G>C
NM_000352.6(ABCC8):c.1631-19C>G
NM_000352.6(ABCC8):c.1631-4G>A rs2133554706
NM_000352.6(ABCC8):c.1632T>A (p.Ile544=)
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1647C>T (p.Ala549=) rs2133554603
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.1665C>T (p.Val555=) rs773212807
NM_000352.6(ABCC8):c.1671+11C>G
NM_000352.6(ABCC8):c.1671+8G>T rs962553311
NM_000352.6(ABCC8):c.1672-12C>T
NM_000352.6(ABCC8):c.1672-13C>A
NM_000352.6(ABCC8):c.1672-13C>G
NM_000352.6(ABCC8):c.1672-15T>G
NM_000352.6(ABCC8):c.1672-16G>A
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.1672-20A>T rs931436550
NM_000352.6(ABCC8):c.1672-5C>T
NM_000352.6(ABCC8):c.1676_1677delinsAA (p.Phe559Ter)
NM_000352.6(ABCC8):c.168C>T (p.Ser56=) rs1848683459
NM_000352.6(ABCC8):c.1707C>G (p.Ala569=)
NM_000352.6(ABCC8):c.1716G>C (p.Ser572=) rs750619309
NM_000352.6(ABCC8):c.1716G>T (p.Ser572=) rs750619309
NM_000352.6(ABCC8):c.1719C>A (p.Pro573=) rs2133549412
NM_000352.6(ABCC8):c.1719C>T (p.Pro573=) rs2133549412
NM_000352.6(ABCC8):c.171G>A (p.Lys57=)
NM_000352.6(ABCC8):c.1723G>A (p.Val575Met)
NM_000352.6(ABCC8):c.1725G>A (p.Val575=)
NM_000352.6(ABCC8):c.1728C>G (p.Ala576=)
NM_000352.6(ABCC8):c.1728C>T (p.Ala576=)
NM_000352.6(ABCC8):c.1740C>T (p.Leu580=)
NM_000352.6(ABCC8):c.174G>A (p.Val58=)
NM_000352.6(ABCC8):c.1755C>A (p.Ile585=) rs753888897
NM_000352.6(ABCC8):c.1758G>A (p.Leu586=)
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.1767G>C (p.Pro589=) rs550788491
NM_000352.6(ABCC8):c.1767G>T (p.Pro589=) rs550788491
NM_000352.6(ABCC8):c.1768C>G (p.Leu590Val)
NM_000352.6(ABCC8):c.1769del (p.Leu590fs)
NM_000352.6(ABCC8):c.1774C>T (p.Leu592=) rs2133549120
NM_000352.6(ABCC8):c.1776G>A (p.Leu592=) rs2133549105
NM_000352.6(ABCC8):c.1777C>T (p.Leu593=)
NM_000352.6(ABCC8):c.1785T>C (p.Ser595=)
NM_000352.6(ABCC8):c.1788G>A (p.Val596=)
NM_000352.6(ABCC8):c.1788G>T (p.Val596=) rs1371996539
NM_000352.6(ABCC8):c.1800C>G (p.Thr600=)
NM_000352.6(ABCC8):c.1803C>T (p.Val601=) rs1955813039
NM_000352.6(ABCC8):c.180C>T (p.Ile60=) rs1213662930
NM_000352.6(ABCC8):c.1810dup (p.Leu604fs) rs2133548955
NM_000352.6(ABCC8):c.1812A>T (p.Leu604=)
NM_000352.6(ABCC8):c.1815G>A (p.Val605=) rs2133548914
NM_000352.6(ABCC8):c.1815G>T (p.Val605=) rs2133548914
NM_000352.6(ABCC8):c.1817+11G>A
NM_000352.6(ABCC8):c.1817+14C>T
NM_000352.6(ABCC8):c.1817+15C>T
NM_000352.6(ABCC8):c.1817+16G>A
NM_000352.6(ABCC8):c.1817+19C>A
NM_000352.6(ABCC8):c.1817+19C>T
NM_000352.6(ABCC8):c.1817+20G>A
NM_000352.6(ABCC8):c.1817+2T>C
NM_000352.6(ABCC8):c.1817+9A>G rs2133548812
NM_000352.6(ABCC8):c.1818-13G>A
NM_000352.6(ABCC8):c.1818-1G>A
NM_000352.6(ABCC8):c.1818-2A>C
NM_000352.6(ABCC8):c.1818-7del rs1955709311
NM_000352.6(ABCC8):c.1818-8C>T
NM_000352.6(ABCC8):c.1821G>A (p.Val607=) rs2133540043
NM_000352.6(ABCC8):c.1824A>G (p.Gln608=) rs2133540040
NM_000352.6(ABCC8):c.1827G>A (p.Lys609=) rs1218705276
NM_000352.6(ABCC8):c.1828C>T (p.Leu610=) rs2133540000
NM_000352.6(ABCC8):c.1840C>T (p.Leu614=) rs2133539879
NM_000352.6(ABCC8):c.1842G>A (p.Leu614=)
NM_000352.6(ABCC8):c.1842G>C (p.Leu614=) rs776060408
NM_000352.6(ABCC8):c.1842G>T (p.Leu614=)
NM_000352.6(ABCC8):c.1845C>T (p.Ser615=) rs763650219
NM_000352.6(ABCC8):c.1848T>C (p.Ser616=) rs2133539790
NM_000352.6(ABCC8):c.1851A>G (p.Ala617=) rs2133539762
NM_000352.6(ABCC8):c.1857C>A (p.Ile619=) rs2133539733
NM_000352.6(ABCC8):c.1860T>A (p.Arg620=)
NM_000352.6(ABCC8):c.1866G>A (p.Glu622=) rs2133539644
NM_000352.6(ABCC8):c.1878C>A (p.Pro626=)
NM_000352.6(ABCC8):c.1878C>G (p.Pro626=)
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1880A>G (p.His627Arg)
NM_000352.6(ABCC8):c.1896G>A (p.Gln632=)
NM_000352.6(ABCC8):c.1911G>A (p.Lys637=) rs2133539197
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
NM_000352.6(ABCC8):c.1923+11G>A
NM_000352.6(ABCC8):c.1923+11_1923+19del
NM_000352.6(ABCC8):c.1923+13C>A
NM_000352.6(ABCC8):c.1923+19C>A
NM_000352.6(ABCC8):c.1923+19C>G
NM_000352.6(ABCC8):c.1923+20T>C
NM_000352.6(ABCC8):c.1923+9C>G
NM_000352.6(ABCC8):c.1923+9C>T rs2133539044
NM_000352.6(ABCC8):c.1924-18C>T
NM_000352.6(ABCC8):c.1924-1G>C
NM_000352.6(ABCC8):c.1924-20C>T
NM_000352.6(ABCC8):c.1924-2A>G
NM_000352.6(ABCC8):c.1924-4C>G rs763688900
NM_000352.6(ABCC8):c.1924-6C>A
NM_000352.6(ABCC8):c.1924-7C>A
NM_000352.6(ABCC8):c.1924-7C>T rs1318035035
NM_000352.6(ABCC8):c.1926C>A (p.Pro642=) rs75376282
NM_000352.6(ABCC8):c.1926C>T (p.Pro642=) rs75376282
NM_000352.6(ABCC8):c.1929C>T (p.Leu643=) rs2133538210
NM_000352.6(ABCC8):c.1933del (p.Val645fs)
NM_000352.6(ABCC8):c.1938G>A (p.Val646=) rs1591797830
NM_000352.6(ABCC8):c.1943G>A (p.Arg648His)
NM_000352.6(ABCC8):c.1950T>G (p.Arg650=) rs772259601
NM_000352.6(ABCC8):c.1955_1958del (p.Ala652fs)
NM_000352.6(ABCC8):c.1960G>T (p.Glu654Ter)
NM_000352.6(ABCC8):c.1969C>A (p.Arg657=)
NM_000352.6(ABCC8):c.1973G>A (p.Gly658Asp)
NM_000352.6(ABCC8):c.1983C>T (p.Gly661=)
NM_000352.6(ABCC8):c.1989G>C (p.Leu663=)
NM_000352.6(ABCC8):c.1995C>T (p.Ser665=)
NM_000352.6(ABCC8):c.1999G>A (p.Val667Ile)
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.19G>T (p.Gly7Cys)
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)
NM_000352.6(ABCC8):c.1_5del (p.Met1fs)
NM_000352.6(ABCC8):c.2001C>T (p.Val667=)
NM_000352.6(ABCC8):c.2004C>A (p.Pro668=)
NM_000352.6(ABCC8):c.2004del (p.Ser669fs)
NM_000352.6(ABCC8):c.2013T>C (p.Asp671=) rs2133537529
NM_000352.6(ABCC8):c.2016C>A (p.Gly672=)
NM_000352.6(ABCC8):c.2016C>T (p.Gly672=)
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
NM_000352.6(ABCC8):c.2019T>C (p.Asp673=)
NM_000352.6(ABCC8):c.201T>C (p.His67=) rs1433641979
NM_000352.6(ABCC8):c.2031C>A (p.Cys677Ter)
NM_000352.6(ABCC8):c.2031C>T (p.Cys677=) rs1955681356
NM_000352.6(ABCC8):c.2040+11C>T
NM_000352.6(ABCC8):c.2040+12T>A
NM_000352.6(ABCC8):c.2040+13G>A
NM_000352.6(ABCC8):c.2040+13del
NM_000352.6(ABCC8):c.2040+14C>A
NM_000352.6(ABCC8):c.2040+15C>T
NM_000352.6(ABCC8):c.2040+17C>T
NM_000352.6(ABCC8):c.2040+7C>A
NM_000352.6(ABCC8):c.2041-11G>A
NM_000352.6(ABCC8):c.2041-12C>A rs201419039
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2041-13_2041-12del rs2133535795
NM_000352.6(ABCC8):c.2041-14C>T
NM_000352.6(ABCC8):c.2041-21G>C
NM_000352.6(ABCC8):c.2041-25G>C
NM_000352.6(ABCC8):c.2041-5T>C
NM_000352.6(ABCC8):c.2043C>T (p.Ile681=) rs2133535667
NM_000352.6(ABCC8):c.204C>T (p.Phe68=) rs2133728998
NM_000352.6(ABCC8):c.2056T>A (p.Phe686Ile)
NM_000352.6(ABCC8):c.2057T>C (p.Phe686Ser) rs1159625966
NM_000352.6(ABCC8):c.2061G>C (p.Thr687=) rs1236747090
NM_000352.6(ABCC8):c.2064G>A (p.Trp688Ter)
NM_000352.6(ABCC8):c.2067C>A (p.Thr689=) rs1427395321
NM_000352.6(ABCC8):c.2068C>G (p.Pro690Ala)
NM_000352.6(ABCC8):c.2070A>G (p.Pro690=) rs1176345615
NM_000352.6(ABCC8):c.2082C>G (p.Pro694=)
NM_000352.6(ABCC8):c.2091C>T (p.Ser697=) rs2133535370
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp)
NM_000352.6(ABCC8):c.2109C>A (p.Ile703=)
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter) rs751848086
NM_000352.6(ABCC8):c.2114del (p.Arg705fs)
NM_000352.6(ABCC8):c.2116+10A>C
NM_000352.6(ABCC8):c.2116+11G>C
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2116+9C>G
NM_000352.6(ABCC8):c.2117-10C>G
NM_000352.6(ABCC8):c.2117-15C>G
NM_000352.6(ABCC8):c.2117-18C>A
NM_000352.6(ABCC8):c.2117-1G>A rs797045207
NM_000352.6(ABCC8):c.2117-2A>T rs1476853180
NM_000352.6(ABCC8):c.2117-3_2117-2inv
NM_000352.6(ABCC8):c.2122C>T (p.Leu708=)
NM_000352.6(ABCC8):c.2124G>A (p.Leu708=)
NM_000352.6(ABCC8):c.2133C>T (p.Ile711=) rs1212155948
NM_000352.6(ABCC8):c.2134G>T (p.Val712Leu)
NM_000352.6(ABCC8):c.2151C>T (p.Cys717=) rs776027296
NM_000352.6(ABCC8):c.2160C>G (p.Ser720=)
NM_000352.6(ABCC8):c.2163G>A (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.2166C>T (p.Leu722=)
NM_000352.6(ABCC8):c.216C>T (p.Asn72=)
NM_000352.6(ABCC8):c.2178A>C (p.Ala726=) rs747902103
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.6(ABCC8):c.2184G>A (p.Gly728=)
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
NM_000352.6(ABCC8):c.2193G>A (p.Gln731=)
NM_000352.6(ABCC8):c.2196G>A (p.Lys732=) rs757327236
NM_000352.6(ABCC8):c.2204G>A (p.Gly735Glu)
NM_000352.6(ABCC8):c.2208T>C (p.Ala736=) rs2133531312
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2222+15C>T
NM_000352.6(ABCC8):c.2222+17C>T
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
NM_000352.6(ABCC8):c.2222+20G>A
NM_000352.6(ABCC8):c.2222+7C>T
NM_000352.6(ABCC8):c.2222+9T>C
NM_000352.6(ABCC8):c.2223-10G>T rs2133488204
NM_000352.6(ABCC8):c.2223-16A>G
NM_000352.6(ABCC8):c.2223-19C>T
NM_000352.6(ABCC8):c.2223-20T>C
NM_000352.6(ABCC8):c.2226T>A (p.Leu742=)
NM_000352.6(ABCC8):c.222G>A (p.Arg74=) rs745544561
NM_000352.6(ABCC8):c.222G>C (p.Arg74=)
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter) rs753296261
NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs) rs2133487890
NM_000352.6(ABCC8):c.2255+11G>C
NM_000352.6(ABCC8):c.2255+12G>A
NM_000352.6(ABCC8):c.2255+13G>A
NM_000352.6(ABCC8):c.2255+20T>A
NM_000352.6(ABCC8):c.2255+20T>C
NM_000352.6(ABCC8):c.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2255+7C>T
NM_000352.6(ABCC8):c.2256-16del rs774508952
NM_000352.6(ABCC8):c.2256-18T>C
NM_000352.6(ABCC8):c.2256-1G>T
NM_000352.6(ABCC8):c.2256-20C>T
NM_000352.6(ABCC8):c.2256-9C>T rs886048052
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=) rs1955020359
NM_000352.6(ABCC8):c.2262G>A (p.Glu754=) rs2133482234
NM_000352.6(ABCC8):c.2263C>A (p.Arg755=) rs748413285
NM_000352.6(ABCC8):c.2263C>T (p.Arg755Trp)
NM_000352.6(ABCC8):c.2264G>A (p.Arg755Gln)
NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter) rs751826777
NM_000352.6(ABCC8):c.2267A>G (p.Glu756Gly)
NM_000352.6(ABCC8):c.2274G>C (p.Ala758=)
NM_000352.6(ABCC8):c.2277C>A (p.Thr759=)
NM_000352.6(ABCC8):c.2277C>G (p.Thr759=)
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs) rs1955018104
NM_000352.6(ABCC8):c.227del (p.Ile76fs)
NM_000352.6(ABCC8):c.2280C>A (p.Asp760Glu)
NM_000352.6(ABCC8):c.2281T>C (p.Leu761=) rs760684989
NM_000352.6(ABCC8):c.2291+1G>A rs1160946320
NM_000352.6(ABCC8):c.2291+20T>A
NM_000352.6(ABCC8):c.2291+7C>A rs770152618
NM_000352.6(ABCC8):c.2291+7C>G
NM_000352.6(ABCC8):c.234C>A (p.Thr78=) rs1591928554
NM_000352.6(ABCC8):c.234C>T (p.Thr78=) rs1591928554
NM_000352.6(ABCC8):c.243G>A (p.Leu81=) rs1192584588
NM_000352.6(ABCC8):c.246C>T (p.Leu82=) rs2133728642
NM_000352.6(ABCC8):c.2476-13T>G
NM_000352.6(ABCC8):c.2476-20T>C
NM_000352.6(ABCC8):c.2476-8G>T
NM_000352.6(ABCC8):c.2496T>C (p.Gly832=)
NM_000352.6(ABCC8):c.249C>T (p.Phe83=) rs1463898525
NM_000352.6(ABCC8):c.24C>T (p.Ser8=)
NM_000352.6(ABCC8):c.2505G>A (p.Gln835=) rs2133470447
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.2526C>T (p.Ala842=)
NM_000352.6(ABCC8):c.2527C>G (p.Leu843Val)
NM_000352.6(ABCC8):c.2529C>G (p.Leu843=)
NM_000352.6(ABCC8):c.252C>G (p.Val84=) rs771819362
NM_000352.6(ABCC8):c.2556+13T>G
NM_000352.6(ABCC8):c.2556+17T>C
NM_000352.6(ABCC8):c.2556+17T>G
NM_000352.6(ABCC8):c.2556+18T>G
NM_000352.6(ABCC8):c.2556+7G>A
NM_000352.6(ABCC8):c.2557-11del
NM_000352.6(ABCC8):c.2557-12C>A
NM_000352.6(ABCC8):c.2557-13C>T
NM_000352.6(ABCC8):c.2557-15C>A
NM_000352.6(ABCC8):c.2557-4C>T rs2133461625
NM_000352.6(ABCC8):c.2557-6G>A
NM_000352.6(ABCC8):c.2557-6G>T rs2133461636
NM_000352.6(ABCC8):c.2562C>A (p.Asp854Glu)
NM_000352.6(ABCC8):c.2581_2586dup (p.His862_Leu863insIleHis)
NM_000352.6(ABCC8):c.2583C>G (p.Ile861Met)
NM_000352.6(ABCC8):c.2585_2588del (p.His862fs)
NM_000352.6(ABCC8):c.258G>A (p.Val86=) rs755833610
NM_000352.6(ABCC8):c.2602A>G (p.Met868Val) rs2133461403
NM_000352.6(ABCC8):c.2625G>A (p.Leu875=) rs2133461235
NM_000352.6(ABCC8):c.2629C>A (p.Arg877=)
NM_000352.6(ABCC8):c.2646A>G (p.Thr882=) rs2133461092
NM_000352.6(ABCC8):c.264G>A (p.Glu88=)
NM_000352.6(ABCC8):c.2652C>T (p.Val884=)
NM_000352.6(ABCC8):c.2653T>C (p.Leu885=) rs2133461057
NM_000352.6(ABCC8):c.2655A>G (p.Leu885=) rs1954760215
NM_000352.6(ABCC8):c.2668C>T (p.Leu890=)
NM_000352.6(ABCC8):c.2671C>T (p.Gln891Ter) rs2133460957
NM_000352.6(ABCC8):c.2679G>A (p.Leu893=)
NM_000352.6(ABCC8):c.2679G>T (p.Leu893=) rs1023939014
NM_000352.6(ABCC8):c.2682C>G (p.Pro894=)
NM_000352.6(ABCC8):c.2685T>C (p.His895=) rs2133460865
NM_000352.6(ABCC8):c.2691C>T (p.Asp897=)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2694+11A>G
NM_000352.6(ABCC8):c.2694+12C>T
NM_000352.6(ABCC8):c.2694+17G>A
NM_000352.6(ABCC8):c.2694+17G>C
NM_000352.6(ABCC8):c.2694+18G>A
NM_000352.6(ABCC8):c.2694+19del
NM_000352.6(ABCC8):c.2694+1G>A
NM_000352.6(ABCC8):c.2694+7G>A rs2133460747
NM_000352.6(ABCC8):c.2694+7G>C
NM_000352.6(ABCC8):c.2694+9del rs1564898910
NM_000352.6(ABCC8):c.2695-20G>A
NM_000352.6(ABCC8):c.2695-4C>A
NM_000352.6(ABCC8):c.2695-5T>C
NM_000352.6(ABCC8):c.2700T>G (p.Ile900Met)
NM_000352.6(ABCC8):c.2709G>A (p.Lys903=) rs1591749128
NM_000352.6(ABCC8):c.2727G>A (p.Arg909=)
NM_000352.6(ABCC8):c.2733T>A (p.Gly911=)
NM_000352.6(ABCC8):c.2736C>T (p.Thr912=)
NM_000352.6(ABCC8):c.273G>A (p.Glu91=) rs1363642618
NM_000352.6(ABCC8):c.2747T>C (p.Phe916Ser)
NM_000352.6(ABCC8):c.2754G>A (p.Arg918=)
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter) rs1954644972
NM_000352.6(ABCC8):c.276C>T (p.Gly92=)
NM_000352.6(ABCC8):c.2773G>C (p.Glu925Gln)
NM_000352.6(ABCC8):c.2775G>A (p.Glu925=) rs2133452505
NM_000352.6(ABCC8):c.2787C>G (p.Thr929=)
NM_000352.6(ABCC8):c.27G>A (p.Glu9=) rs2133738203
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
NM_000352.6(ABCC8):c.2802G>A (p.Gln934=)
NM_000352.6(ABCC8):c.280C>T (p.Leu94=) rs2133728329
NM_000352.6(ABCC8):c.2811G>A (p.Glu937=) rs756734449
NM_000352.6(ABCC8):c.2819_2820+17dup
NM_000352.6(ABCC8):c.2820+19G>A
NM_000352.6(ABCC8):c.2821-11C>G
NM_000352.6(ABCC8):c.2823G>A (p.Glu941=)
NM_000352.6(ABCC8):c.282G>A (p.Leu94=) rs757467422
NM_000352.6(ABCC8):c.2832A>G (p.Thr944=)
NM_000352.6(ABCC8):c.2835G>A (p.Glu945=) rs754757951
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.2856C>A (p.Pro952=) rs1284352811
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.285T>A (p.Ser95=)
NM_000352.6(ABCC8):c.2880C>T (p.Ser960=) rs774603418
NM_000352.6(ABCC8):c.2883G>C (p.Ser961=)
NM_000352.6(ABCC8):c.2884A>C (p.Arg962=) rs2133449165
NM_000352.6(ABCC8):c.2887G>C (p.Asp963His)
NM_000352.6(ABCC8):c.2889T>C (p.Asp963=) rs1399055404
NM_000352.6(ABCC8):c.2895_2897del (p.Leu966del) rs751964033
NM_000352.6(ABCC8):c.290+12_290+15del
NM_000352.6(ABCC8):c.290+17G>A
NM_000352.6(ABCC8):c.290+18del
NM_000352.6(ABCC8):c.290+1G>A rs2133728249
NM_000352.6(ABCC8):c.290+8A>T
NM_000352.6(ABCC8):c.291-18T>C
NM_000352.6(ABCC8):c.291-20G>A
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.291-5C>T rs2133711631
NM_000352.6(ABCC8):c.291-6T>A
NM_000352.6(ABCC8):c.291-7A>G
NM_000352.6(ABCC8):c.2910A>G (p.Glu970=)
NM_000352.6(ABCC8):c.2913G>A (p.Glu971=)
NM_000352.6(ABCC8):c.2920+10dup
NM_000352.6(ABCC8):c.2920+11T>C
NM_000352.6(ABCC8):c.2920+13G>T
NM_000352.6(ABCC8):c.2920+17T>C
NM_000352.6(ABCC8):c.2921-19G>A
NM_000352.6(ABCC8):c.2921-1G>A rs772682942
NM_000352.6(ABCC8):c.2921-4G>A
NM_000352.6(ABCC8):c.2925G>A (p.Glu975=) rs1954581539
NM_000352.6(ABCC8):c.2928A>G (p.Ala976=) rs370703902
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr) rs568576108
NM_000352.6(ABCC8):c.2941G>T (p.Glu981Ter)
NM_000352.6(ABCC8):c.2949C>T (p.Asp983=) rs2133448234
NM_000352.6(ABCC8):c.2953C>T (p.Leu985=) rs2133448216
NM_000352.6(ABCC8):c.2953del (p.Leu985fs)
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.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.2979T>A (p.Ala993=) rs2133448070
NM_000352.6(ABCC8):c.297C>A (p.Thr99=) rs906180828
NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)
NM_000352.6(ABCC8):c.298G>T (p.Glu100Ter)
NM_000352.6(ABCC8):c.2T>C (p.Met1Thr)
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter) rs192863214
NM_000352.6(ABCC8):c.3009C>T (p.Tyr1003=)
NM_000352.6(ABCC8):c.300A>G (p.Glu100=)
NM_000352.6(ABCC8):c.3015C>T (p.Ser1005=)
NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=) rs149279510
NM_000352.6(ABCC8):c.3027C>A (p.Ile1009=)
NM_000352.6(ABCC8):c.3038C>A (p.Ser1013Ter)
NM_000352.6(ABCC8):c.3039G>T (p.Ser1013=)
NM_000352.6(ABCC8):c.3040T>C (p.Leu1014=)
NM_000352.6(ABCC8):c.3043C>T (p.Leu1015=) rs72559719
NM_000352.6(ABCC8):c.306C>T (p.His102=) rs759952645
NM_000352.6(ABCC8):c.3075C>A (p.Val1025=)
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=) rs1354438772
NM_000352.6(ABCC8):c.3078G>A (p.Leu1026=)
NM_000352.6(ABCC8):c.3078G>C (p.Leu1026=) rs1954569008
NM_000352.6(ABCC8):c.3081G>A (p.Val1027=) rs745860035
NM_000352.6(ABCC8):c.3081G>T (p.Val1027=) rs745860035
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs) rs1954568421
NM_000352.6(ABCC8):c.3087C>T (p.Ile1029=) rs376413488
NM_000352.6(ABCC8):c.3095G>A (p.Trp1032Ter)
NM_000352.6(ABCC8):c.3097C>T (p.Leu1033=)
NM_000352.6(ABCC8):c.3102C>G (p.Ala1034=) rs749093430
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.3114C>T (p.Asp1038=) rs2133447045
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs) rs786204542
NM_000352.6(ABCC8):c.3129G>A (p.Leu1043=) rs1591744434
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3132C>G (p.Thr1044=)
NM_000352.6(ABCC8):c.3135T>C (p.Pro1045=) rs763608511
NM_000352.6(ABCC8):c.3142A>G (p.Arg1048Gly)
NM_000352.6(ABCC8):c.3153C>T (p.Ser1051=) rs2133446558
NM_000352.6(ABCC8):c.3154C>T (p.Leu1052Phe)
NM_000352.6(ABCC8):c.3159C>T (p.Ser1053=)
NM_000352.6(ABCC8):c.3162+11C>T
NM_000352.6(ABCC8):c.3162+12G>A
NM_000352.6(ABCC8):c.3162+14C>T
NM_000352.6(ABCC8):c.3162+19G>A
NM_000352.6(ABCC8):c.3162+9G>A
NM_000352.6(ABCC8):c.3163-10G>T
NM_000352.6(ABCC8):c.3163-14C>T
NM_000352.6(ABCC8):c.3163-18C>T
NM_000352.6(ABCC8):c.3163-20A>C
NM_000352.6(ABCC8):c.3163-5T>A
NM_000352.6(ABCC8):c.3163-6G>A
NM_000352.6(ABCC8):c.3163-8C>G
NM_000352.6(ABCC8):c.3163-8C>T rs1489967666
NM_000352.6(ABCC8):c.3163-9C>A
NM_000352.6(ABCC8):c.3168C>T (p.Cys1056=) rs1799860
NM_000352.6(ABCC8):c.3171C>A (p.Thr1057=) rs1251688793
NM_000352.6(ABCC8):c.3171C>T (p.Thr1057=)
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=) rs778240883
NM_000352.6(ABCC8):c.318G>A (p.Leu106=) rs762615496
NM_000352.6(ABCC8):c.318G>C (p.Leu106=)
NM_000352.6(ABCC8):c.3192C>T (p.Ala1064=) rs1361537195
NM_000352.6(ABCC8):c.3193A>T (p.Met1065Leu)
NM_000352.6(ABCC8):c.3198G>A (p.Val1066=)
NM_000352.6(ABCC8):c.3204G>C (p.Thr1068=) rs760793070
NM_000352.6(ABCC8):c.3204G>T (p.Thr1068=)
NM_000352.6(ABCC8):c.3231G>A (p.Leu1077=) rs2133445595
NM_000352.6(ABCC8):c.3237C>G (p.Leu1079=)
NM_000352.6(ABCC8):c.3237C>T (p.Leu1079=) rs888495082
NM_000352.6(ABCC8):c.3243G>T (p.Thr1081=) rs771538281
NM_000352.6(ABCC8):c.3249C>T (p.Val1083=)
NM_000352.6(ABCC8):c.3264A>G (p.Thr1088=)
NM_000352.6(ABCC8):c.3270G>A (p.Leu1090=) rs1054629799
NM_000352.6(ABCC8):c.3283A>T (p.Arg1095Ter)
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.3292C>T (p.Arg1098Cys) rs150368331
NM_000352.6(ABCC8):c.3307C>A (p.Arg1103=)
NM_000352.6(ABCC8):c.3309G>A (p.Arg1103=) rs1321810156
NM_000352.6(ABCC8):c.3309G>T (p.Arg1103=) rs1321810156
NM_000352.6(ABCC8):c.3312C>T (p.Ile1104=)
NM_000352.6(ABCC8):c.3318A>G (p.Leu1106=) rs750430789
NM_000352.6(ABCC8):c.3324C>T (p.Pro1108=) rs2133445127
NM_000352.6(ABCC8):c.3329+11C>A
NM_000352.6(ABCC8):c.3329+11C>T
NM_000352.6(ABCC8):c.3329+13C>A
NM_000352.6(ABCC8):c.3329+17G>A
NM_000352.6(ABCC8):c.3329+19C>G
NM_000352.6(ABCC8):c.3329+9C>T
NM_000352.6(ABCC8):c.332G>A (p.Gly111Glu) rs2133711374
NM_000352.6(ABCC8):c.3330-19T>C
NM_000352.6(ABCC8):c.3330-8C>T rs765173606
NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=) rs757191246
NM_000352.6(ABCC8):c.333del (p.Met112fs) rs2133711362
NM_000352.6(ABCC8):c.3342C>T (p.Thr1114=)
NM_000352.6(ABCC8):c.3345G>T (p.Thr1115=) rs186634115
NM_000352.6(ABCC8):c.3351T>A (p.Leu1117=)
NM_000352.6(ABCC8):c.3361C>T (p.Leu1121=) rs2133441964
NM_000352.6(ABCC8):c.3366C>T (p.Asn1122=) rs2133441940
NM_000352.6(ABCC8):c.3372T>C (p.Phe1124=)
NM_000352.6(ABCC8):c.3378T>C (p.Ser1126=)
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs) rs1954474111
NM_000352.6(ABCC8):c.3396C>T (p.Asp1132=) rs2133441796
NM_000352.6(ABCC8):c.3399+12C>G
NM_000352.6(ABCC8):c.3399+13G>C rs182340196
NM_000352.6(ABCC8):c.3399+13dup
NM_000352.6(ABCC8):c.3399+2T>C
NM_000352.6(ABCC8):c.3399+8G>A
NM_000352.6(ABCC8):c.3399+8G>T rs1954472055
NM_000352.6(ABCC8):c.3400-11G>A
NM_000352.6(ABCC8):c.3400-12C>T
NM_000352.6(ABCC8):c.3400-14C>A
NM_000352.6(ABCC8):c.3400-14C>G
NM_000352.6(ABCC8):c.3400-14C>T rs745575417
NM_000352.6(ABCC8):c.3400-16C>T
NM_000352.6(ABCC8):c.3400-18C>T
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.3400-20C>T
NM_000352.6(ABCC8):c.3400-21_3400-18del
NM_000352.6(ABCC8):c.3400-6C>T
NM_000352.6(ABCC8):c.3400-7C>G
NM_000352.6(ABCC8):c.3400-8T>C
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=) rs762412267
NM_000352.6(ABCC8):c.342C>T (p.Phe114=) rs2133711281
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3439del (p.Leu1147fs) rs2133439017
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3444C>T (p.Leu1148=)
NM_000352.6(ABCC8):c.3456C>A (p.Ala1152=) rs1044800524
NM_000352.6(ABCC8):c.3456C>G (p.Ala1152=) rs1044800524
NM_000352.6(ABCC8):c.3456C>T (p.Ala1152=)
NM_000352.6(ABCC8):c.3459G>A (p.Leu1153=)
NM_000352.6(ABCC8):c.3465C>T (p.Val1155=) rs368044193
NM_000352.6(ABCC8):c.3474T>C (p.Tyr1158=)
NM_000352.6(ABCC8):c.3480A>G (p.Thr1160=) rs1954419460
NM_000352.6(ABCC8):c.3486G>A (p.Val1162=) rs151203959
NM_000352.6(ABCC8):c.3495G>A (p.Val1165=)
NM_000352.6(ABCC8):c.3495G>T (p.Val1165=) rs1431596946
NM_000352.6(ABCC8):c.3498C>T (p.Ala1166=)
NM_000352.6(ABCC8):c.3501C>G (p.Leu1167=) rs781026423
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=) rs565968675
NM_000352.6(ABCC8):c.3504G>A (p.Leu1168=)
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.3510G>A (p.Leu1170=)
NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=) rs778961697
NM_000352.6(ABCC8):c.351T>C (p.Ala117=) rs779259385
NM_000352.6(ABCC8):c.3531C>T (p.Ile1177=)
NM_000352.6(ABCC8):c.3540C>T (p.Tyr1180=)
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3545G>T (p.Arg1182Leu)
NM_000352.6(ABCC8):c.3546G>A (p.Arg1182=) rs2133438266
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000352.6(ABCC8):c.3557+11C>T
NM_000352.6(ABCC8):c.3557+12del
NM_000352.6(ABCC8):c.3557+14G>T
NM_000352.6(ABCC8):c.3557+16G>A
NM_000352.6(ABCC8):c.3557+16G>T
NM_000352.6(ABCC8):c.3557+17T>A
NM_000352.6(ABCC8):c.3557+1G>A rs1554910610
NM_000352.6(ABCC8):c.3557+1G>T rs1554910610
NM_000352.6(ABCC8):c.3557+7G>A rs2133438141
NM_000352.6(ABCC8):c.3557+8C>A rs1954411444
NM_000352.6(ABCC8):c.3557+9C>T
NM_000352.6(ABCC8):c.3558-12dup
NM_000352.6(ABCC8):c.3558-14G>A
NM_000352.6(ABCC8):c.3558-17T>A
NM_000352.6(ABCC8):c.3568C>T (p.Gln1190Ter)
NM_000352.6(ABCC8):c.3573G>A (p.Leu1191=) rs1038735802
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.3579C>T (p.Asp1193=) rs2133430587
NM_000352.6(ABCC8):c.3582C>T (p.Thr1194=) rs2133430540
NM_000352.6(ABCC8):c.3585C>T (p.Thr1195=)
NM_000352.6(ABCC8):c.3591T>G (p.Leu1197=)
NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter) rs1283621955
NM_000352.6(ABCC8):c.3600C>T (p.Leu1200=)
NM_000352.6(ABCC8):c.3603A>T (p.Ser1201=) rs145874746
NM_000352.6(ABCC8):c.3609T>C (p.Phe1203=)
NM_000352.6(ABCC8):c.3612C>G (p.Ala1204=) rs149861153
NM_000352.6(ABCC8):c.3627A>T (p.Gly1209=) rs2133430260
NM_000352.6(ABCC8):c.363G>T (p.Val121=)
NM_000352.6(ABCC8):c.3642G>A (p.Arg1214=) rs2133430175
NM_000352.6(ABCC8):c.3645C>A (p.Ala1215=)
NM_000352.6(ABCC8):c.3645C>T (p.Ala1215=)
NM_000352.6(ABCC8):c.3650+14T>C
NM_000352.6(ABCC8):c.3650+1G>T
NM_000352.6(ABCC8):c.3650+5G>A
NM_000352.6(ABCC8):c.3650+6_3650+7dup rs1451699241
NM_000352.6(ABCC8):c.3650+7G>C
NM_000352.6(ABCC8):c.3650+9C>A rs1591730796
NM_000352.6(ABCC8):c.3650+9C>G
NM_000352.6(ABCC8):c.3651-17T>C
NM_000352.6(ABCC8):c.3651-19C>T
NM_000352.6(ABCC8):c.3651-4C>G rs1954058406
NM_000352.6(ABCC8):c.3651-4C>T rs1954058406
NM_000352.6(ABCC8):c.3660C>T (p.Ala1220=) rs1954057293
NM_000352.6(ABCC8):c.3663G>A (p.Arg1221=)
NM_000352.6(ABCC8):c.3669G>A (p.Gln1223=) rs2133413976
NM_000352.6(ABCC8):c.3674del (p.Lys1225fs)
NM_000352.6(ABCC8):c.3678T>G (p.Leu1226=)
NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=) rs370636988
NM_000352.6(ABCC8):c.3682del (p.Glu1228fs)
NM_000352.6(ABCC8):c.3687C>T (p.Tyr1229=) rs2133413841
NM_000352.6(ABCC8):c.3696C>T (p.Ser1232=) rs953395303
NM_000352.6(ABCC8):c.36G>A (p.Ser12=)
NM_000352.6(ABCC8):c.36G>T (p.Ser12=)
NM_000352.6(ABCC8):c.3714C>G (p.Leu1238=)
NM_000352.6(ABCC8):c.3714C>T (p.Leu1238=) rs779489003
NM_000352.6(ABCC8):c.3717C>T (p.Phe1239=) rs1210628924
NM_000352.6(ABCC8):c.3723A>T (p.Thr1241=) rs2133413704
NM_000352.6(ABCC8):c.3729C>T (p.Ala1243=) rs753473058
NM_000352.6(ABCC8):c.3732C>T (p.Asn1244=) rs763659404
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3737G>A (p.Trp1246Ter)
NM_000352.6(ABCC8):c.3737G>T (p.Trp1246Leu) rs2133413622
NM_000352.6(ABCC8):c.3738G>A (p.Trp1246Ter)
NM_000352.6(ABCC8):c.3753+10A>G rs1591718533
NM_000352.6(ABCC8):c.3753+11T>C
NM_000352.6(ABCC8):c.3753+11T>G
NM_000352.6(ABCC8):c.3753+2C>T rs760196276
NM_000352.6(ABCC8):c.3753+6T>C
NM_000352.6(ABCC8):c.3754-12C>G
NM_000352.6(ABCC8):c.3754-12C>T
NM_000352.6(ABCC8):c.3754-14C>T
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3754-6C>T rs1591717230
NM_000352.6(ABCC8):c.3754-8C>T rs2133411706
NM_000352.6(ABCC8):c.3756G>A (p.Glu1252=)
NM_000352.6(ABCC8):c.375_376del (p.His125fs)
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=) rs775699878
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs) rs2133411551
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
NM_000352.6(ABCC8):c.3777G>A (p.Val1259=) rs150679949
NM_000352.6(ABCC8):c.3784G>C (p.Ala1262Pro)
NM_000352.6(ABCC8):c.378C>T (p.Asn126=) rs2133711004
NM_000352.6(ABCC8):c.3795C>T (p.Thr1265=) rs572134560
NM_000352.6(ABCC8):c.3800T>C (p.Ile1267Thr)
NM_000352.6(ABCC8):c.381C>T (p.Ile127=) rs753235776
NM_000352.6(ABCC8):c.3822G>A (p.Glu1274=) rs2133411157
NM_000352.6(ABCC8):c.3825C>A (p.Leu1275=)
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
NM_000352.6(ABCC8):c.3839T>C (p.Val1280Ala)
NM_000352.6(ABCC8):c.3843C>A (p.Gly1281=)
NM_000352.6(ABCC8):c.3862C>T (p.Leu1288=) rs1045246716
NM_000352.6(ABCC8):c.3867+12T>C
NM_000352.6(ABCC8):c.3867+15G>A
NM_000352.6(ABCC8):c.3867+16C>A
NM_000352.6(ABCC8):c.3867+16C>T
NM_000352.6(ABCC8):c.3867+1G>A
NM_000352.6(ABCC8):c.3867+7G>C rs372198547
NM_000352.6(ABCC8):c.3868-10C>A
NM_000352.6(ABCC8):c.3868-10C>T rs2133409266
NM_000352.6(ABCC8):c.3868-11G>A
NM_000352.6(ABCC8):c.3868-4A>C
NM_000352.6(ABCC8):c.3868-4A>G rs1953988886
NM_000352.6(ABCC8):c.3870C>T (p.Val1290=) rs2133409188
NM_000352.6(ABCC8):c.3903G>T (p.Leu1301=) rs2133408961
NM_000352.6(ABCC8):c.3921G>A (p.Gln1307=)
NM_000352.6(ABCC8):c.3926G>A (p.Gly1309Glu)
NM_000352.6(ABCC8):c.3927G>A (p.Gly1309=) rs1409484250
NM_000352.6(ABCC8):c.3933G>A (p.Val1311=) rs2133408756
NM_000352.6(ABCC8):c.3936G>A (p.Lys1312=) rs1237687512
NM_000352.6(ABCC8):c.3942C>T (p.Ile1314=) rs755241300
NM_000352.6(ABCC8):c.3945T>C (p.His1315=) rs762899017
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.3952del (p.Leu1317_Leu1318insTer) rs2133408572
NM_000352.6(ABCC8):c.3960C>G (p.Thr1320=)
NM_000352.6(ABCC8):c.3963G>A (p.Glu1321=) rs2133408497
NM_000352.6(ABCC8):c.3966_3972del (p.Glu1323fs) rs2133408466
NM_000352.6(ABCC8):c.3967G>A (p.Glu1323Lys)
NM_000352.6(ABCC8):c.3978G>A (p.Glu1326=)
NM_000352.6(ABCC8):c.3984C>G (p.Leu1328=)
NM_000352.6(ABCC8):c.3985C>T (p.Leu1329=)
NM_000352.6(ABCC8):c.3988+11C>G rs1953979149
NM_000352.6(ABCC8):c.3988+14G>C
NM_000352.6(ABCC8):c.3988+18del
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.3988+20G>T
NM_000352.6(ABCC8):c.3989-12C>A
NM_000352.6(ABCC8):c.3989-4C>T rs2133407554
NM_000352.6(ABCC8):c.3989-8G>A
NM_000352.6(ABCC8):c.398C>G (p.Pro133Arg)
NM_000352.6(ABCC8):c.39C>T (p.Ala13=)
NM_000352.6(ABCC8):c.4001_4019dup (p.Gln1341fs) rs2133407387
NM_000352.6(ABCC8):c.4011C>T (p.Asn1337=)
NM_000352.6(ABCC8):c.4012T>C (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4026G>A (p.Gly1342=)
NM_000352.6(ABCC8):c.4029G>A (p.Lys1343=) rs1953966288
NM_000352.6(ABCC8):c.4038C>A (p.Ile1346=) rs1363346196
NM_000352.6(ABCC8):c.4047G>A (p.Leu1349=)
NM_000352.6(ABCC8):c.4050C>T (p.Ser1350=)
NM_000352.6(ABCC8):c.4053G>A (p.Val1351=) rs2133407169
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4057T>C (p.Tyr1353His)
NM_000352.6(ABCC8):c.4059C>A (p.Tyr1353Ter) rs374602183
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.406C>T (p.Leu136=) rs2133710797
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
NM_000352.6(ABCC8):c.4089C>T (p.His1363=) rs1211875269
NM_000352.6(ABCC8):c.408A>G (p.Leu136=)
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4097C>T (p.Ala1366Val)
NM_000352.6(ABCC8):c.4098C>T (p.Ala1366=)
NM_000352.6(ABCC8):c.4101C>T (p.Leu1367=) rs1213265524
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)
NM_000352.6(ABCC8):c.4107C>T (p.Ala1369=)
NM_000352.6(ABCC8):c.4119+11G>A
NM_000352.6(ABCC8):c.4119+11G>C
NM_000352.6(ABCC8):c.4119+13G>A
NM_000352.6(ABCC8):c.4119+19C>T
NM_000352.6(ABCC8):c.4119+1del rs1057517050
NM_000352.6(ABCC8):c.4119+7G>A rs753193265
NM_000352.6(ABCC8):c.412+8A>G rs2133710710
NM_000352.6(ABCC8):c.4120-8C>G rs2133402775
NM_000352.6(ABCC8):c.4125G>C (p.Gly1375=)
NM_000352.6(ABCC8):c.413-15A>C
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.413-5G>C rs186946111
NM_000352.6(ABCC8):c.413-5G>T rs186946111
NM_000352.6(ABCC8):c.413-8C>T rs756765109
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser) rs925231098
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4137C>A (p.Arg1379=) rs2133402635
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs) rs1953899672
NM_000352.6(ABCC8):c.4140C>G (p.Thr1380=) rs574684578
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=) rs574684578
NM_000352.6(ABCC8):c.4143C>A (p.Gly1381=)
NM_000352.6(ABCC8):c.4146T>C (p.Ser1382=)
NM_000352.6(ABCC8):c.4147G>C (p.Gly1383Arg)
NM_000352.6(ABCC8):c.4148G>A (p.Gly1383Glu)
NM_000352.6(ABCC8):c.4149G>A (p.Gly1383=) rs2133402516
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=) rs1250433233
NM_000352.6(ABCC8):c.4155C>A (p.Ser1385=) rs1007114942
NM_000352.6(ABCC8):c.4155C>G (p.Ser1385=)
NM_000352.6(ABCC8):c.4155C>T (p.Ser1385=) rs1007114942
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4161C>T (p.Phe1387=) rs2133402417
NM_000352.6(ABCC8):c.4164T>C (p.Ser1388=)
NM_000352.6(ABCC8):c.4177C>G (p.Arg1393Gly)
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
NM_000352.6(ABCC8):c.4178G>T (p.Arg1393Leu)
NM_000352.6(ABCC8):c.417G>A (p.Leu139=) rs2133687795
NM_000352.6(ABCC8):c.4180A>G (p.Met1394Val) rs562677120
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
NM_000352.6(ABCC8):c.4185G>A (p.Val1395=)
NM_000352.6(ABCC8):c.4198+12G>A
NM_000352.6(ABCC8):c.4198+14C>G
NM_000352.6(ABCC8):c.4198+14C>T
NM_000352.6(ABCC8):c.4198+15G>A
NM_000352.6(ABCC8):c.4198+16G>T
NM_000352.6(ABCC8):c.4198+20C>A
NM_000352.6(ABCC8):c.4198+9T>C rs2133402113
NM_000352.6(ABCC8):c.4199-10A>C
NM_000352.6(ABCC8):c.4199-14T>C
NM_000352.6(ABCC8):c.4199-15C>T
NM_000352.6(ABCC8):c.4199-19del
NM_000352.6(ABCC8):c.4199-20C>T
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.4199-9C>T rs1234950562
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)
NM_000352.6(ABCC8):c.420G>T (p.Leu140=) rs1399568824
NM_000352.6(ABCC8):c.4210_4212del (p.Ile1404del)
NM_000352.6(ABCC8):c.4215T>C (p.Asp1405=) rs2133401360
NM_000352.6(ABCC8):c.4224C>T (p.Asp1408=) rs2133401318
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=) rs373478721
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4257A>T (p.Ser1419=) rs2133401058
NM_000352.6(ABCC8):c.4258C>A (p.Arg1420Ser) rs28938469
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4269C>A (p.Ile1423=)
NM_000352.6(ABCC8):c.426T>C (p.Tyr142=) rs2133687754
NM_000352.6(ABCC8):c.4273del (p.Leu1425fs)
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.4284C>G (p.Pro1428=) rs986616476
NM_000352.6(ABCC8):c.4284del (p.Val1429fs)
NM_000352.6(ABCC8):c.4298G>A (p.Gly1433Asp)
NM_000352.6(ABCC8):c.429G>A (p.Trp143Ter)
NM_000352.6(ABCC8):c.4302C>A (p.Thr1434=)
NM_000352.6(ABCC8):c.4307+13A>G rs886048047
NM_000352.6(ABCC8):c.4307+16C>G
NM_000352.6(ABCC8):c.4307+17C>T
NM_000352.6(ABCC8):c.4307+19C>T
NM_000352.6(ABCC8):c.4307+20del
NM_000352.6(ABCC8):c.4307+9del rs1564874257
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4308-10C>T rs2133398967
NM_000352.6(ABCC8):c.4308-19C>T
NM_000352.6(ABCC8):c.4317G>A (p.Leu1439=)
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4326G>A (p.Glu1442=) rs1237313905
NM_000352.6(ABCC8):c.4329G>A (p.Arg1443=)
NM_000352.6(ABCC8):c.433C>T (p.Leu145=)
NM_000352.6(ABCC8):c.4348C>T (p.Leu1450=)
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4372C>G (p.Gln1458Glu) rs2133398414
NM_000352.6(ABCC8):c.4374G>A (p.Gln1458=) rs2133398398
NM_000352.6(ABCC8):c.4376T>C (p.Leu1459Pro)
NM_000352.6(ABCC8):c.4380G>A (p.Lys1460=) rs1953845952
NM_000352.6(ABCC8):c.4389G>T (p.Val1463=) rs1014389339
NM_000352.6(ABCC8):c.438C>T (p.Ala146=)
NM_000352.6(ABCC8):c.4392G>A (p.Lys1464=) rs2133398226
NM_000352.6(ABCC8):c.4396C>T (p.Leu1466=) rs774418147
NM_000352.6(ABCC8):c.4400C>T (p.Pro1467Leu)
NM_000352.6(ABCC8):c.4400del (p.Pro1467fs)
NM_000352.6(ABCC8):c.4407C>A (p.Gly1469=) rs2133398118
NM_000352.6(ABCC8):c.4411+14G>C
NM_000352.6(ABCC8):c.4411+18T>C
NM_000352.6(ABCC8):c.4411+2T>C rs1953843456
NM_000352.6(ABCC8):c.4411+8C>T rs2133398070
NM_000352.6(ABCC8):c.4411G>C (p.Asp1471His) rs72559716
NM_000352.6(ABCC8):c.4412-10C>T
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4412-14del
NM_000352.6(ABCC8):c.4412-15C>T
NM_000352.6(ABCC8):c.4412-18T>C
NM_000352.6(ABCC8):c.4412-7T>A
NM_000352.6(ABCC8):c.4413T>C (p.Asp1471=) rs2133395419
NM_000352.6(ABCC8):c.4419C>T (p.Ile1473=) rs2133395390
NM_000352.6(ABCC8):c.4429G>C (p.Gly1477Arg)
NM_000352.6(ABCC8):c.4431C>A (p.Gly1477=) rs145673861
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.4434G>C (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.4437G>A (p.Glu1479=)
NM_000352.6(ABCC8):c.4443C>T (p.Phe1481=) rs2133395252
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4464G>C (p.Leu1488=)
NM_000352.6(ABCC8):c.4467C>T (p.Phe1489=) rs1453693995
NM_000352.6(ABCC8):c.4470C>T (p.Cys1490=)
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs) rs1953791177
NM_000352.6(ABCC8):c.4478G>C (p.Arg1493Pro) rs746480424
NM_000352.6(ABCC8):c.447C>T (p.Thr149=) rs1847960688
NM_000352.6(ABCC8):c.4488G>A (p.Val1496=) rs2133394964
NM_000352.6(ABCC8):c.4491G>A (p.Arg1497=)
NM_000352.6(ABCC8):c.4494G>A (p.Lys1498=)
NM_000352.6(ABCC8):c.4518G>A (p.Glu1506=)
NM_000352.6(ABCC8):c.4521C>T (p.Ala1507=) rs1391041542
NM_000352.6(ABCC8):c.4532T>A (p.Ile1511Asn) rs2133394768
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
NM_000352.6(ABCC8):c.4533T>A (p.Ile1511=)
NM_000352.6(ABCC8):c.4536C>T (p.Asp1512=)
NM_000352.6(ABCC8):c.453C>T (p.Thr151=)
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met) rs769989185
NM_000352.6(ABCC8):c.4545+11G>A
NM_000352.6(ABCC8):c.4545+13C>A
NM_000352.6(ABCC8):c.4545+14C>G
NM_000352.6(ABCC8):c.4545+16C>T
NM_000352.6(ABCC8):c.4545+19C>G
NM_000352.6(ABCC8):c.4545+1G>C
NM_000352.6(ABCC8):c.4545+1del rs2133394678
NM_000352.6(ABCC8):c.4546-10C>A
NM_000352.6(ABCC8):c.4546-12C>T
NM_000352.6(ABCC8):c.4546-13C>A
NM_000352.6(ABCC8):c.4546-14C>T
NM_000352.6(ABCC8):c.4546-18G>A
NM_000352.6(ABCC8):c.4546-1G>A
NM_000352.6(ABCC8):c.4546-8C>T rs1273503048
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly) rs2133393241
NM_000352.6(ABCC8):c.4588del (p.Arg1530fs) rs2133393098
NM_000352.6(ABCC8):c.4593T>A (p.Thr1531=) rs1591703934
NM_000352.6(ABCC8):c.4593T>C (p.Thr1531=) rs1591703934
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
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.4608+11C>T
NM_000352.6(ABCC8):c.4608+13T>C
NM_000352.6(ABCC8):c.4608+18G>A
NM_000352.6(ABCC8):c.4608+20G>A
NM_000352.6(ABCC8):c.4608+7G>A
NM_000352.6(ABCC8):c.4608+8del
NM_000352.6(ABCC8):c.4608+9C>A rs757297282
NM_000352.6(ABCC8):c.4608+9C>T
NM_000352.6(ABCC8):c.4609-10C>T rs2133390334
NM_000352.6(ABCC8):c.4609-16C>T
NM_000352.6(ABCC8):c.4609-16del
NM_000352.6(ABCC8):c.4609-17C>T
NM_000352.6(ABCC8):c.4609-20C>A
NM_000352.6(ABCC8):c.4609-7_4609-3del
NM_000352.6(ABCC8):c.460T>G (p.Phe154Val) rs2133687586
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.6(ABCC8):c.4614A>T (p.Arg1538=)
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4620C>T (p.His1540=)
NM_000352.6(ABCC8):c.4623C>T (p.Thr1541=)
NM_000352.6(ABCC8):c.4650C>T (p.Val1550=)
NM_000352.6(ABCC8):c.4651C>T (p.Leu1551=)
NM_000352.6(ABCC8):c.4653G>T (p.Leu1551=)
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
NM_000352.6(ABCC8):c.4659G>C (p.Arg1553=) rs2133390140
NM_000352.6(ABCC8):c.4661G>A (p.Gly1554Asp)
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)
NM_000352.6(ABCC8):c.4662T>C (p.Gly1554=)
NM_000352.6(ABCC8):c.4671T>C (p.Leu1557=)
NM_000352.6(ABCC8):c.4674G>A (p.Glu1558=) rs2133390078
NM_000352.6(ABCC8):c.4683G>A (p.Lys1561=)
NM_000352.6(ABCC8):c.4686A>G (p.Pro1562=)
NM_000352.6(ABCC8):c.4698C>T (p.Leu1566=)
NM_000352.6(ABCC8):c.4702C>A (p.Arg1568=)
NM_000352.6(ABCC8):c.4704G>A (p.Arg1568=)
NM_000352.6(ABCC8):c.4704G>C (p.Arg1568=)
NM_000352.6(ABCC8):c.4707G>A (p.Lys1569=) rs192371917
NM_000352.6(ABCC8):c.4710C>T (p.Asp1570=)
NM_000352.6(ABCC8):c.4722C>G (p.Ala1574=)
NM_000352.6(ABCC8):c.4729G>A (p.Val1577Ile)
NM_000352.6(ABCC8):c.4733G>C (p.Arg1578Pro)
NM_000352.6(ABCC8):c.483C>T (p.Ala161=)
NM_000352.6(ABCC8):c.486C>A (p.Ile162=)
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter) rs758754046
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter) rs1591896370
NM_000352.6(ABCC8):c.498G>A (p.Gln166=)
NM_000352.6(ABCC8):c.501A>G (p.Leu167=) rs1426055182
NM_000352.6(ABCC8):c.501A>T (p.Leu167=) rs1426055182
NM_000352.6(ABCC8):c.503G>C (p.Arg168Pro) rs1002070797
NM_000352.6(ABCC8):c.522G>T (p.Leu174=)
NM_000352.6(ABCC8):c.525G>C (p.Leu175=) rs1847952465
NM_000352.6(ABCC8):c.528G>T (p.Val176=)
NM_000352.6(ABCC8):c.534C>T (p.Leu178=) rs2133687056
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.544del (p.Leu182fs) rs2133686985
NM_000352.6(ABCC8):c.546G>A (p.Leu182=) rs1591896019
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.56del (p.Gln19fs) rs2133738006
NM_000352.6(ABCC8):c.576G>A (p.Val192=) rs2133686785
NM_000352.6(ABCC8):c.579+11C>T
NM_000352.6(ABCC8):c.579+15T>A
NM_000352.6(ABCC8):c.579+15T>C
NM_000352.6(ABCC8):c.579+19C>T
NM_000352.6(ABCC8):c.579+1G>A
NM_000352.6(ABCC8):c.579+2T>C rs1449198328
NM_000352.6(ABCC8):c.580-15C>G
NM_000352.6(ABCC8):c.580-16_580-14del
NM_000352.6(ABCC8):c.580-17G>A
NM_000352.6(ABCC8):c.580-20A>G
NM_000352.6(ABCC8):c.580-5C>T
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000352.6(ABCC8):c.580-7C>T rs771196330
NM_000352.6(ABCC8):c.582A>G (p.Arg194=)
NM_000352.6(ABCC8):c.588C>A (p.Ile196=) rs2133680708
NM_000352.6(ABCC8):c.594C>T (p.Phe198=)
NM_000352.6(ABCC8):c.609G>A (p.Glu203=) rs267602802
NM_000352.6(ABCC8):c.60G>A (p.Gly20=) rs775688352
NM_000352.6(ABCC8):c.61G>T (p.Val21Phe)
NM_000352.6(ABCC8):c.621C>A (p.Pro207=) rs765043940
NM_000352.6(ABCC8):c.628C>T (p.Leu210=)
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys) rs193929366
NM_000352.6(ABCC8):c.639G>A (p.Leu213=) rs1483834388
NM_000352.6(ABCC8):c.639G>C (p.Leu213=) rs1483834388
NM_000352.6(ABCC8):c.63C>A (p.Val21=)
NM_000352.6(ABCC8):c.643del (p.Val215fs) rs1957201685
NM_000352.6(ABCC8):c.645A>G (p.Val215=) rs759728510
NM_000352.6(ABCC8):c.652C>T (p.Leu218=)
NM_000352.6(ABCC8):c.653T>C (p.Leu218Pro) rs2133680172
NM_000352.6(ABCC8):c.654G>A (p.Leu218=)
NM_000352.6(ABCC8):c.655C>T (p.Gln219Ter) rs2133680142
NM_000352.6(ABCC8):c.657G>A (p.Gln219=)
NM_000352.6(ABCC8):c.663C>T (p.Phe221=) rs770293918
NM_000352.6(ABCC8):c.678C>T (p.Ser226=) rs2133679955
NM_000352.6(ABCC8):c.67A>C (p.Asn23His)
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.685A>G (p.Thr229Ala)
NM_000352.6(ABCC8):c.687C>T (p.Thr229=)
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter) rs2133679771
NM_000352.6(ABCC8):c.6C>T (p.Pro2=)
NM_000352.6(ABCC8):c.725del (p.Lys242fs) rs1957196622
NM_000352.6(ABCC8):c.72C>T (p.Asn24=) rs771075821
NM_000352.6(ABCC8):c.741G>A (p.Leu247=) rs2133679465
NM_000352.6(ABCC8):c.750C>A (p.Ile250=) rs566527939
NM_000352.6(ABCC8):c.757C>T (p.Leu253=) rs1191286588
NM_000352.6(ABCC8):c.759G>A (p.Leu253=)
NM_000352.6(ABCC8):c.762C>T (p.Pro254=) rs2133679286
NM_000352.6(ABCC8):c.768C>T (p.Ala256=) rs1048093
NM_000352.6(ABCC8):c.76del (p.Cys26fs) rs2133737797
NM_000352.6(ABCC8):c.790C>T (p.Gln264Ter) rs2133679133
NM_000352.6(ABCC8):c.795G>A (p.Arg265=) rs1386314454
NM_000352.6(ABCC8):c.795G>T (p.Arg265=) rs1386314454
NM_000352.6(ABCC8):c.797T>C (p.Leu266Pro)
NM_000352.6(ABCC8):c.79T>G (p.Phe27Val) rs1202763483
NM_000352.6(ABCC8):c.801C>T (p.Cys267=)
NM_000352.6(ABCC8):c.804G>A (p.Glu268=)
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000352.6(ABCC8):c.80T>C (p.Phe27Ser)
NM_000352.6(ABCC8):c.817del (p.Gln273fs) rs2133678848
NM_000352.6(ABCC8):c.81dup (p.Val28fs) rs2133737748
NM_000352.6(ABCC8):c.822+11G>A
NM_000352.6(ABCC8):c.822+14C>A
NM_000352.6(ABCC8):c.822+15A>G
NM_000352.6(ABCC8):c.822+16G>A
NM_000352.6(ABCC8):c.822+18C>G
NM_000352.6(ABCC8):c.822+2T>C
NM_000352.6(ABCC8):c.822+8G>A
NM_000352.6(ABCC8):c.822+9G>A rs1007498516
NM_000352.6(ABCC8):c.823-10C>T rs1276799856
NM_000352.6(ABCC8):c.823-14G>T
NM_000352.6(ABCC8):c.823-17A>G
NM_000352.6(ABCC8):c.823-19C>T
NM_000352.6(ABCC8):c.823-4G>A
NM_000352.6(ABCC8):c.825G>C (p.Arg275=)
NM_000352.6(ABCC8):c.828G>A (p.Lys276=)
NM_000352.6(ABCC8):c.843T>C (p.Thr281=)
NM_000352.6(ABCC8):c.849T>C (p.Gly283=)
NM_000352.6(ABCC8):c.84G>A (p.Val28=)
NM_000352.6(ABCC8):c.854G>A (p.Arg285Gln)
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter) rs2133675152
NM_000352.6(ABCC8):c.867G>A (p.Gln289=)
NM_000352.6(ABCC8):c.873C>G (p.Leu291=) rs2133675101
NM_000352.6(ABCC8):c.876C>T (p.Ser292=)
NM_000352.6(ABCC8):c.895C>T (p.Leu299=) rs2133674906
NM_000352.6(ABCC8):c.897G>A (p.Leu299=) rs2133674894
NM_000352.6(ABCC8):c.8del (p.Leu3fs) rs940471335
NM_000352.6(ABCC8):c.90G>T (p.Ala30=)
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.921C>A (p.Ile307=)
NM_000352.6(ABCC8):c.921C>T (p.Ile307=)
NM_000352.6(ABCC8):c.922T>C (p.Leu308=)
NM_000352.6(ABCC8):c.927C>G (p.Ala309=)
NM_000352.6(ABCC8):c.933G>T (p.Leu311=)
NM_000352.6(ABCC8):c.939C>T (p.Gly313=) rs2133674606
NM_000352.6(ABCC8):c.951A>G (p.Pro317=) rs1591885314
NM_000352.6(ABCC8):c.952C>T (p.Leu318=) rs2133674471
NM_000352.6(ABCC8):c.954G>A (p.Leu318=) rs771014822
NM_000352.6(ABCC8):c.954G>C (p.Leu318=) rs771014822
NM_000352.6(ABCC8):c.957C>T (p.Cys319=)
NM_000352.6(ABCC8):c.95A>G (p.Asn32Ser)
NM_000352.6(ABCC8):c.960C>T (p.Ile320=) rs941342929
NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)
NM_000352.6(ABCC8):c.975C>T (p.Asp325=) rs1752153530
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)
NM_000352.6(ABCC8):c.990G>A (p.Glu330=) rs45522932
NM_000352.6(ABCC8):c.996C>T (p.Asp332=) rs538923562
NM_000352.6(ABCC8):c.99G>C (p.Val33=)

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