ClinVar Miner

List of variants in gene ABCC6 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1056
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.2400A>G (p.Gly800=) rs7500834 0.96880
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001171.6(ABCC6):c.1338+7C>G rs9940089 0.75013
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala) rs12931472 0.44841
NM_001171.6(ABCC6):c.1896C>A (p.His632Gln) rs8058694 0.43467
NM_001171.6(ABCC6):c.1890C>G (p.Thr630=) rs8058696 0.42733
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_001171.6(ABCC6):c.2835C>T (p.Pro945=) rs2856585 0.08929
NM_001171.6(ABCC6):c.3507-16T>C rs3213471 0.04995
NM_001171.6(ABCC6):c.645G>A (p.Thr215=) rs72664282 0.04543
NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313 0.02791
NM_001171.6(ABCC6):c.2175A>T (p.Val725=) rs59757815 0.02503
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=) rs72664283 0.01355
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001171.6(ABCC6):c.993G>T (p.Leu331=) rs146523238 0.01092
NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn) rs192110266 0.00934
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) rs61266641 0.00789
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
NM_001171.6(ABCC6):c.955A>G (p.Ile319Val) rs72657699 0.00744
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) rs61318127 0.00732
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.3980G>A (p.Gly1327Glu) rs57695665 0.00432
NM_001171.6(ABCC6):c.3459C>T (p.Arg1153=) rs59030767 0.00369
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_001171.6(ABCC6):c.3852C>T (p.Gly1284=) rs56982924 0.00251
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857 0.00186
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_001171.6(ABCC6):c.4425G>A (p.Gly1475=) rs114099077 0.00149
NM_001171.6(ABCC6):c.2696G>A (p.Arg899His) rs116355959 0.00125
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001171.6(ABCC6):c.1432-9C>T rs201633047 0.00108
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00086
NM_001171.6(ABCC6):c.1783C>T (p.Arg595Trp) rs150866831 0.00086
NM_001171.6(ABCC6):c.1636-20G>A rs200894424 0.00073
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001171.6(ABCC6):c.4208+8C>T rs56688069 0.00068
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001171.6(ABCC6):c.2628C>A (p.Gly876=) rs115379860 0.00057
NM_001171.6(ABCC6):c.3883-7C>T rs61097521 0.00052
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg) rs114349489 0.00035
NM_001171.6(ABCC6):c.3507-15C>T rs374776435 0.00034
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) rs376210462 0.00033
NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr) rs56877937 0.00032
NM_001171.6(ABCC6):c.2248-19G>C rs191392093 0.00032
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile) rs63751325 0.00029
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001171.6(ABCC6):c.3507-17G>A rs58571995 0.00026
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) rs58494932 0.00024
NM_001171.6(ABCC6):c.4105G>A (p.Glu1369Lys) rs60285147 0.00021
NM_001171.6(ABCC6):c.4193G>A (p.Arg1398Gln) rs202080984 0.00019
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met) rs542502733 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.1944-8G>A rs373223582 0.00016
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr) rs151272575 0.00016
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) rs534017491 0.00016
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001171.6(ABCC6):c.4473C>T (p.Gly1491=) rs141860096 0.00015
NM_001171.6(ABCC6):c.2034G>A (p.Gly678=) rs761805973 0.00014
NM_001171.6(ABCC6):c.2788-13_2788-12del rs760411795 0.00014
NM_001171.6(ABCC6):c.2995+6C>T rs373896559 0.00014
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=) rs145693403 0.00014
NM_001171.6(ABCC6):c.1195G>A (p.Gly399Ser) rs368723482 0.00012
NM_001171.6(ABCC6):c.1586G>A (p.Gly529Asp) rs199643353 0.00012
NM_001171.6(ABCC6):c.2916G>A (p.Ala972=) rs759516647 0.00012
NM_001171.6(ABCC6):c.3306+5G>A rs369806278 0.00012
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001171.6(ABCC6):c.1323C>T (p.Phe441=) rs200519199 0.00011
NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp) rs754360599 0.00011
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala) rs376062004 0.00011
NM_001171.6(ABCC6):c.3778C>G (p.Pro1260Ala) rs149151337 0.00011
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001171.6(ABCC6):c.3495G>A (p.Leu1165=) rs1020931324 0.00010
NM_001171.6(ABCC6):c.4002G>C (p.Gly1334=) rs139128550 0.00010
NM_001171.6(ABCC6):c.1193G>T (p.Ser398Ile) rs769882654 0.00009
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys) rs369410139 0.00009
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=) rs748500639 0.00009
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His) rs201334880 0.00009
NM_001171.6(ABCC6):c.2757A>G (p.Pro919=) rs140467297 0.00009
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.2973C>T (p.Phe991=) rs375767696 0.00009
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=) rs372041663 0.00009
NM_001171.6(ABCC6):c.3168C>T (p.Asp1056=) rs72657694 0.00009
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.3375C>T (p.Ser1125=) rs115364698 0.00009
NM_001171.6(ABCC6):c.345+10C>T rs768002646 0.00009
NM_001171.6(ABCC6):c.3735+9C>T rs199786977 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001171.6(ABCC6):c.4209-8G>A rs536603858 0.00009
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) rs377008733 0.00008
NM_001171.6(ABCC6):c.2982C>T (p.Leu994=) rs113270297 0.00008
NM_001171.6(ABCC6):c.3735+18G>A rs562368920 0.00008
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001171.6(ABCC6):c.4104C>T (p.Asp1368=) rs199668617 0.00008
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) rs372059636 0.00007
NM_001171.6(ABCC6):c.1432-8G>A rs372692483 0.00007
NM_001171.6(ABCC6):c.1986C>T (p.Val662=) rs760798025 0.00007
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp) rs72653784 0.00007
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) rs372121585 0.00007
NM_001171.6(ABCC6):c.3307-17C>G rs368254373 0.00007
NM_001171.6(ABCC6):c.1338+16A>C rs764198351 0.00006
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) rs145764775 0.00006
NM_001171.6(ABCC6):c.1585G>A (p.Gly529Ser) rs140045277 0.00006
NM_001171.6(ABCC6):c.1842C>T (p.Val614=) rs375557810 0.00006
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) rs372235202 0.00006
NM_001171.6(ABCC6):c.1955C>T (p.Thr652Met) rs146936233 0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His) rs116898670 0.00006
NM_001171.6(ABCC6):c.2437G>A (p.Ala813Thr) rs756766310 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.2745G>A (p.Arg915=) rs559575288 0.00006
NM_001171.6(ABCC6):c.2787+8C>T rs557287313 0.00006
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) rs749463148 0.00006
NM_001171.6(ABCC6):c.2995+4C>T rs376872423 0.00006
NM_001171.6(ABCC6):c.3307-6T>C rs375271795 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00006
NM_001171.6(ABCC6):c.3489G>A (p.Pro1163=) rs202000035 0.00006
NM_001171.6(ABCC6):c.3557C>A (p.Ala1186Asp) rs149460452 0.00006
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) rs141728905 0.00006
NM_001171.6(ABCC6):c.3725C>T (p.Thr1242Met) rs141449320 0.00006
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) rs77913024 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) rs200485267 0.00006
NM_001171.6(ABCC6):c.4226T>A (p.Leu1409His) rs776557438 0.00006
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.4404-5C>A rs58190361 0.00006
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) rs778956327 0.00006
NM_001171.6(ABCC6):c.1943+17G>A rs746268859 0.00005
NM_001171.6(ABCC6):c.2139C>T (p.Phe713=) rs115546382 0.00005
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys) rs138049574 0.00005
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys) rs762758350 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001171.6(ABCC6):c.109G>T (p.Val37Phe) rs557779326 0.00004
NM_001171.6(ABCC6):c.1155C>T (p.Ile385=) rs774597736 0.00004
NM_001171.6(ABCC6):c.1177-8C>A rs752742639 0.00004
NM_001171.6(ABCC6):c.1194C>T (p.Ser398=) rs376518465 0.00004
NM_001171.6(ABCC6):c.1249G>A (p.Val417Met) rs768869262 0.00004
NM_001171.6(ABCC6):c.1354G>A (p.Ala452Thr) rs761364455 0.00004
NM_001171.6(ABCC6):c.1473C>T (p.Thr491=) rs764676656 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.1780-11G>A rs532189625 0.00004
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys) rs72653777 0.00004
NM_001171.6(ABCC6):c.2049G>A (p.Val683=) rs372511255 0.00004
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=) rs57866002 0.00004
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys) rs114303883 0.00004
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) rs770859081 0.00004
NM_001171.6(ABCC6):c.2478G>C (p.Leu826=) rs138026855 0.00004
NM_001171.6(ABCC6):c.2661C>T (p.Arg887=) rs376958386 0.00004
NM_001171.6(ABCC6):c.2730G>C (p.Leu910=) rs1006292323 0.00004
NM_001171.6(ABCC6):c.2763A>C (p.Gly921=) rs764693216 0.00004
NM_001171.6(ABCC6):c.2847C>T (p.Tyr949=) rs553008971 0.00004
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) rs756768329 0.00004
NM_001171.6(ABCC6):c.3113G>A (p.Arg1038Gln) rs371211631 0.00004
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala) rs780276741 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) rs147794514 0.00004
NM_001171.6(ABCC6):c.3600C>T (p.Gly1200=) rs200132882 0.00004
NM_001171.6(ABCC6):c.3634-4C>T rs546587473 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser) rs148326870 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.3822C>T (p.Tyr1274=) rs769820268 0.00004
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) rs760304927 0.00004
NM_001171.6(ABCC6):c.4042-5G>A rs578175155 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4086G>A (p.Leu1362=) rs139978668 0.00004
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) rs371122482 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) rs531418668 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001171.6(ABCC6):c.1177-5G>A rs367827731 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys) rs770532500 0.00003
NM_001171.6(ABCC6):c.1302C>T (p.Leu434=) rs760935787 0.00003
NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly) rs72653766 0.00003
NM_001171.6(ABCC6):c.1412A>G (p.Lys471Arg) rs780432555 0.00003
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) rs761847996 0.00003
NM_001171.6(ABCC6):c.1636-8C>A rs766400634 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.1675G>A (p.Glu559Lys) rs114149656 0.00003
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=) rs767365625 0.00003
NM_001171.6(ABCC6):c.2259C>G (p.Leu753=) rs774043587 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2291C>T (p.Ala764Val) rs748000420 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001171.6(ABCC6):c.2820T>G (p.Arg940=) rs72664286 0.00003
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His) rs72657700 0.00003
NM_001171.6(ABCC6):c.2863C>A (p.Leu955Ile) rs142377854 0.00003
NM_001171.6(ABCC6):c.2935G>C (p.Gly979Arg) rs569941928 0.00003
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del) rs72664230 0.00003
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala) rs72657693 0.00003
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146 0.00003
NM_001171.6(ABCC6):c.3548T>G (p.Val1183Gly) rs773579765 0.00003
NM_001171.6(ABCC6):c.3634-3C>A rs72664212 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001171.6(ABCC6):c.3760G>A (p.Ala1254Thr) rs375647381 0.00003
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) rs375741855 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) rs142505247 0.00003
NM_001171.6(ABCC6):c.4008C>T (p.His1336=) rs146265944 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4042-15G>A rs371489110 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001171.6(ABCC6):c.890G>A (p.Arg297His) rs199729978 0.00003
NM_001171.6(ABCC6):c.1275C>G (p.Leu425=) rs201682224 0.00002
NM_001171.6(ABCC6):c.1438C>G (p.Gln480Glu) rs746211393 0.00002
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768 0.00002
NM_001171.6(ABCC6):c.1491C>A (p.Asn497Lys) rs72653770 0.00002
NM_001171.6(ABCC6):c.1635+6G>A rs370532188 0.00002
NM_001171.6(ABCC6):c.1657G>A (p.Val553Ile) rs558508305 0.00002
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu) rs749017755 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.1779+9G>T rs1212865583 0.00002
NM_001171.6(ABCC6):c.1780-17G>A rs547175985 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2238T>C (p.Ile746=) rs748098140 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.2387T>C (p.Ile796Thr) rs776463091 0.00002
NM_001171.6(ABCC6):c.2410G>A (p.Gly804Arg) rs888620785 0.00002
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.258C>T (p.Ser86=) rs1216946994 0.00002
NM_001171.6(ABCC6):c.2591-15C>T rs749858819 0.00002
NM_001171.6(ABCC6):c.2609G>T (p.Ser870Ile) rs754624352 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.2675A>G (p.Lys892Arg) rs1277193521 0.00002
NM_001171.6(ABCC6):c.2934T>C (p.Gly978=) rs748551497 0.00002
NM_001171.6(ABCC6):c.2946G>A (p.Thr982=) rs138410013 0.00002
NM_001171.6(ABCC6):c.3054G>A (p.Arg1018=) rs370805624 0.00002
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00002
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg) rs72657695 0.00002
NM_001171.6(ABCC6):c.3191G>A (p.Arg1064Gln) rs774796759 0.00002
NM_001171.6(ABCC6):c.3390G>A (p.Thr1130=) rs149775493 0.00002
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln) rs572351621 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3506+15G>A rs72664302 0.00002
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) rs146284800 0.00002
NM_001171.6(ABCC6):c.3606G>A (p.Val1202=) rs766504801 0.00002
NM_001171.6(ABCC6):c.3616G>A (p.Val1206Ile) rs375983928 0.00002
NM_001171.6(ABCC6):c.3644C>T (p.Thr1215Ile) rs764318423 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys) rs72657701 0.00002
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met) rs141731889 0.00002
NM_001171.6(ABCC6):c.3882+5G>A rs774245200 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile) rs63750494 0.00002
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro) rs63750410 0.00002
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter) rs66913554 0.00002
NM_001171.6(ABCC6):c.4209-11A>G rs755951076 0.00002
NM_001171.6(ABCC6):c.4209-18T>C rs781542001 0.00002
NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His) rs775319351 0.00002
NM_001171.6(ABCC6):c.1177-17T>C rs928327177 0.00001
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met) rs200582171 0.00001
NM_001171.6(ABCC6):c.1247A>G (p.Asp416Gly) rs761923987 0.00001
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp) rs775853778 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.1261A>G (p.Thr421Ala) rs932396289 0.00001
NM_001171.6(ABCC6):c.1361C>T (p.Thr454Ile) rs554886514 0.00001
NM_001171.6(ABCC6):c.1417A>C (p.Arg473=) rs939836975 0.00001
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) rs72653769 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1575G>T (p.Leu525Phe) rs1348337015 0.00001
NM_001171.6(ABCC6):c.1593C>T (p.Leu531=) rs1431851402 0.00001
NM_001171.6(ABCC6):c.1604C>T (p.Ser535Leu) rs749568041 0.00001
NM_001171.6(ABCC6):c.1635+5C>T rs545106514 0.00001
NM_001171.6(ABCC6):c.1638C>T (p.Val546=) rs1011923791 0.00001
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) rs914084997 0.00001
NM_001171.6(ABCC6):c.1662C>T (p.His554=) rs777753626 0.00001
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) rs143092672 0.00001
NM_001171.6(ABCC6):c.1707G>A (p.Val569=) rs760958976 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1780-18C>T rs754667289 0.00001
NM_001171.6(ABCC6):c.1784G>A (p.Arg595Gln) rs762499171 0.00001
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) rs761433545 0.00001
NM_001171.6(ABCC6):c.1812C>A (p.Phe604Leu) rs776483503 0.00001
NM_001171.6(ABCC6):c.1837G>A (p.Gly613Ser) rs369816256 0.00001
NM_001171.6(ABCC6):c.1866C>T (p.Ser622=) rs561150422 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=) rs747341864 0.00001
NM_001171.6(ABCC6):c.1909G>A (p.Ala637Thr) rs759329140 0.00001
NM_001171.6(ABCC6):c.1943+4C>T rs556818235 0.00001
NM_001171.6(ABCC6):c.1956G>A (p.Thr652=) rs141399693 0.00001
NM_001171.6(ABCC6):c.1981G>T (p.Val661Phe) rs1250519612 0.00001
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842 0.00001
NM_001171.6(ABCC6):c.2070+5G>A rs72664208 0.00001
NM_001171.6(ABCC6):c.2079G>A (p.Val693=) rs189252048 0.00001
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) rs199913903 0.00001
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met) rs143731811 0.00001
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly) rs1252723064 0.00001
NM_001171.6(ABCC6):c.2121G>C (p.Val707=) rs778711523 0.00001
NM_001171.6(ABCC6):c.2248G>A (p.Gly750Ser) rs1192373126 0.00001
NM_001171.6(ABCC6):c.2258T>C (p.Leu753Pro) rs1555512484 0.00001
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys) rs866196138 0.00001
NM_001171.6(ABCC6):c.2266G>A (p.Gly756Ser) rs1022850449 0.00001
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln) rs769405586 0.00001
NM_001171.6(ABCC6):c.2299G>A (p.Val767Ile) rs538408828 0.00001
NM_001171.6(ABCC6):c.2317G>T (p.Val773Leu) rs114185856 0.00001
NM_001171.6(ABCC6):c.2343G>A (p.Ala781=) rs768106519 0.00001
NM_001171.6(ABCC6):c.2385C>T (p.Val795=) rs761484572 0.00001
NM_001171.6(ABCC6):c.2396G>T (p.Gly799Val) rs775412517 0.00001
NM_001171.6(ABCC6):c.2416-6G>A rs773390728 0.00001
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798 0.00001
NM_001171.6(ABCC6):c.2492T>A (p.Ile831Asn) rs370039769 0.00001
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953 0.00001
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=) rs60990156 0.00001
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) rs201884545 0.00001
NM_001171.6(ABCC6):c.2590+9T>C rs775583181 0.00001
NM_001171.6(ABCC6):c.2591-1G>T rs1131691865 0.00001
NM_001171.6(ABCC6):c.2599C>T (p.Pro867Ser) rs376512808 0.00001
NM_001171.6(ABCC6):c.2622C>T (p.Pro874=) rs750332089 0.00001
NM_001171.6(ABCC6):c.2666+10C>T rs1289193660 0.00001
NM_001171.6(ABCC6):c.2666+15G>A rs554746448 0.00001
NM_001171.6(ABCC6):c.2666G>A (p.Arg889Lys) rs776065362 0.00001
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter) rs1481200467 0.00001
NM_001171.6(ABCC6):c.2688G>A (p.Glu896=) rs771892138 0.00001
NM_001171.6(ABCC6):c.2717C>G (p.Thr906Arg) rs375890241 0.00001
NM_001171.6(ABCC6):c.2740G>C (p.Asp914His) rs1470139960 0.00001
NM_001171.6(ABCC6):c.2769C>G (p.Asp923Glu) rs760231794 0.00001
NM_001171.6(ABCC6):c.2799A>G (p.Thr933=) rs759128201 0.00001
NM_001171.6(ABCC6):c.2810C>A (p.Ala937Asp) rs1287329186 0.00001
NM_001171.6(ABCC6):c.2824G>A (p.Val942Met) rs375592383 0.00001
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe) rs987609654 0.00001
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro) rs72657691 0.00001
NM_001171.6(ABCC6):c.2909T>A (p.Leu970Gln) rs776512349 0.00001
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.2976G>C (p.Gly992=) rs1240073394 0.00001
NM_001171.6(ABCC6):c.2995+17C>T rs1175419062 0.00001
NM_001171.6(ABCC6):c.2995+5G>A rs1158056430 0.00001
NM_001171.6(ABCC6):c.2996-16T>A rs763053937 0.00001
NM_001171.6(ABCC6):c.3039G>C (p.Gly1013=) rs1330004346 0.00001
NM_001171.6(ABCC6):c.3072C>T (p.Leu1024=) rs767464604 0.00001
NM_001171.6(ABCC6):c.3075G>A (p.Leu1025=) rs376087244 0.00001
NM_001171.6(ABCC6):c.3085G>A (p.Val1029Met) rs1458521345 0.00001
NM_001171.6(ABCC6):c.3121A>G (p.Ile1041Val) rs772632852 0.00001
NM_001171.6(ABCC6):c.3275T>C (p.Leu1092Pro) rs2046849427 0.00001
NM_001171.6(ABCC6):c.3294C>T (p.Tyr1098=) rs371889155 0.00001
NM_001171.6(ABCC6):c.3307-16C>G rs745709089 0.00001
NM_001171.6(ABCC6):c.3345G>A (p.Leu1115=) rs763644344 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3405A>G (p.Thr1135=) rs780107077 0.00001
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) rs772396564 0.00001
NM_001171.6(ABCC6):c.3414G>C (p.Arg1138=) rs1218312833 0.00001
NM_001171.6(ABCC6):c.3420C>A (p.Phe1140Leu) rs1184430665 0.00001
NM_001171.6(ABCC6):c.3461T>C (p.Val1154Ala) rs775707011 0.00001
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=) rs746045818 0.00001
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) rs142128765 0.00001
NM_001171.6(ABCC6):c.3507-14G>A rs1006071217 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.3515C>T (p.Ala1172Val) rs753771636 0.00001
NM_001171.6(ABCC6):c.3604G>A (p.Val1202Met) rs752683023 0.00001
NM_001171.6(ABCC6):c.3612C>G (p.Phe1204Leu) rs1464733728 0.00001
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter) rs72653748 0.00001
NM_001171.6(ABCC6):c.3735+10G>A rs372710375 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) rs576328904 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=) rs61294695 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.3975C>T (p.Ile1325=) rs751220009 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.3994C>G (p.His1332Asp) rs767636709 0.00001
NM_001171.6(ABCC6):c.4017C>T (p.Arg1339=) rs1329687909 0.00001
NM_001171.6(ABCC6):c.4023G>A (p.Arg1341=) rs2046492851 0.00001
NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr) rs63750608 0.00001
NM_001171.6(ABCC6):c.4042-6C>T rs777894623 0.00001
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352 0.00001
NM_001171.6(ABCC6):c.4125G>C (p.Leu1375=) rs1224251243 0.00001
NM_001171.6(ABCC6):c.4140C>T (p.Leu1380=) rs368258006 0.00001
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) rs749035807 0.00001
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys) rs63751241 0.00001
NM_001171.6(ABCC6):c.4218G>C (p.Gln1406His) rs149510465 0.00001
NM_001171.6(ABCC6):c.4240C>T (p.Arg1414Cys) rs760611511 0.00001
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262 0.00001
NM_001171.6(ABCC6):c.4404-2A>C rs1368211583 0.00001
NM_001171.6(ABCC6):c.4449G>A (p.Pro1483=) rs776255682 0.00001
NM_001171.6(ABCC6):c.4458G>C (p.Leu1486=) rs768365514 0.00001
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) rs745761393 0.00001
NM_001171.6(ABCC6):c.856G>A (p.Glu286Lys) rs752725393 0.00001
NC_000016.9:g.(?_16243990)_(16244649_?)dup
NC_000016.9:g.(?_16243990)_(16276807_?)dup
NC_000016.9:g.(?_16243990)_(16292059_?)del
NC_000016.9:g.(?_16243990)_(16292059_?)dup
NC_000016.9:g.(?_16248465)_(16259810_?)del
NC_000016.9:g.(?_16253319)_(16292059_?)dup
NC_000016.9:g.(?_16259460)_(16292059_?)del
NC_000016.9:g.(?_16263483)_(16292059_?)del
NC_000016.9:g.(?_16271289)_(16286799_?)dup
NC_000016.9:g.(?_16284001)_(16292059_?)dup
NC_000016.9:g.(?_16291858)_(16292059_?)del
NM_001171.5(ABCC6):c.1944_1965del22
NM_001171.6(ABCC6):c.1177-12C>T
NM_001171.6(ABCC6):c.1177-13G>T rs2152278569
NM_001171.6(ABCC6):c.1177-8C>T
NM_001171.6(ABCC6):c.1183G>A (p.Ala395Thr)
NM_001171.6(ABCC6):c.1186C>T (p.Leu396=)
NM_001171.6(ABCC6):c.1200C>T (p.Ser400=)
NM_001171.6(ABCC6):c.1202G>A (p.Arg401Lys)
NM_001171.6(ABCC6):c.1208C>A (p.Ala403Asp) rs2048117162
NM_001171.6(ABCC6):c.1209C>A (p.Ala403=) rs1596704087
NM_001171.6(ABCC6):c.1215G>A (p.Ala405=)
NM_001171.6(ABCC6):c.1224T>C (p.Asp408=) rs1596703976
NM_001171.6(ABCC6):c.1232A>G (p.Asn411Ser)
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1233_1234delinsCG (p.Leu412Val)
NM_001171.6(ABCC6):c.1234C>T (p.Leu412=) rs755918422
NM_001171.6(ABCC6):c.1242C>T (p.Ser414=)
NM_001171.6(ABCC6):c.1246G>A (p.Asp416Asn) rs2152278398
NM_001171.6(ABCC6):c.1262C>T (p.Thr421Ile)
NM_001171.6(ABCC6):c.1266G>T (p.Glu422Asp)
NM_001171.6(ABCC6):c.1269C>T (p.Ser423=)
NM_001171.6(ABCC6):c.1277A>G (p.Tyr426Cys)
NM_001171.6(ABCC6):c.1277dup (p.Tyr426Ter)
NM_001171.6(ABCC6):c.1278C>T (p.Tyr426=)
NM_001171.6(ABCC6):c.1283A>G (p.Asn428Ser)
NM_001171.6(ABCC6):c.1284C>G (p.Asn428Lys)
NM_001171.6(ABCC6):c.1287G>T (p.Gly429=)
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
NM_001171.6(ABCC6):c.1290G>A (p.Leu430=) rs1567523122
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1300C>G (p.Leu434Val)
NM_001171.6(ABCC6):c.1302C>G (p.Leu434=)
NM_001171.6(ABCC6):c.1303G>A (p.Val435Ile)
NM_001171.6(ABCC6):c.1308G>A (p.Trp436Ter)
NM_001171.6(ABCC6):c.1311C>A (p.Ile437=) rs150075392
NM_001171.6(ABCC6):c.1311C>T (p.Ile437=)
NM_001171.6(ABCC6):c.1314G>A (p.Val438=) rs771349496
NM_001171.6(ABCC6):c.1315G>A (p.Val439Ile)
NM_001171.6(ABCC6):c.1317C>T (p.Val439=) rs2152278245
NM_001171.6(ABCC6):c.1328A>G (p.Tyr443Cys)
NM_001171.6(ABCC6):c.1334G>A (p.Trp445Ter)
NM_001171.6(ABCC6):c.1338+11G>A
NM_001171.6(ABCC6):c.1338+13A>T rs888400819
NM_001171.6(ABCC6):c.1338+1G>T
NM_001171.6(ABCC6):c.1338+20C>G rs12929920
NM_001171.6(ABCC6):c.1338+20C>T
NM_001171.6(ABCC6):c.1338+6_1338+7delinsTG rs2152278176
NM_001171.6(ABCC6):c.1338+7C>A rs9940089
NM_001171.6(ABCC6):c.1339-13C>T
NM_001171.6(ABCC6):c.1339-19C>G
NM_001171.6(ABCC6):c.1339-4C>T rs2152272935
NM_001171.6(ABCC6):c.1339-5C>A rs2152272938
NM_001171.6(ABCC6):c.1339-8A>G rs1353567492
NM_001171.6(ABCC6):c.1347G>T (p.Gly449=) rs1403825556
NM_001171.6(ABCC6):c.1355C>A (p.Ala452Asp)
NM_001171.6(ABCC6):c.1357C>T (p.Leu453Phe)
NM_001171.6(ABCC6):c.1361C>A (p.Thr454Asn) rs554886514
NM_001171.6(ABCC6):c.1368C>G (p.Ile456Met) rs141309818
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) rs141309818
NM_001171.6(ABCC6):c.1369G>A (p.Ala457Thr)
NM_001171.6(ABCC6):c.1370C>G (p.Ala457Gly)
NM_001171.6(ABCC6):c.1371T>A (p.Ala457=) rs572266339
NM_001171.6(ABCC6):c.1374C>T (p.Val458=)
NM_001171.6(ABCC6):c.1386C>T (p.Leu462=)
NM_001171.6(ABCC6):c.1388T>A (p.Leu463His) rs72653767
NM_001171.6(ABCC6):c.1388T>C (p.Leu463Pro)
NM_001171.6(ABCC6):c.1394T>G (p.Leu465Arg) rs2152272827
NM_001171.6(ABCC6):c.1401C>A (p.Phe467Leu)
NM_001171.6(ABCC6):c.1407C>G (p.Ile469Met)
NM_001171.6(ABCC6):c.1413del (p.Arg473fs) rs1596687174
NM_001171.6(ABCC6):c.1419G>A (p.Arg473=)
NM_001171.6(ABCC6):c.1431+11del
NM_001171.6(ABCC6):c.1432-13C>G rs1208460101
NM_001171.6(ABCC6):c.1432-13C>T
NM_001171.6(ABCC6):c.1432-22_1432-19del rs745345434
NM_001171.6(ABCC6):c.1432-24CT[2]
NM_001171.6(ABCC6):c.1432-4C>T
NM_001171.6(ABCC6):c.1432-5C>T rs2152270212
NM_001171.6(ABCC6):c.1444A>C (p.Arg482=)
NM_001171.6(ABCC6):c.1452G>A (p.Lys484=)
NM_001171.6(ABCC6):c.1459C>G (p.Arg487Gly) rs374244303
NM_001171.6(ABCC6):c.1461G>A (p.Arg487=)
NM_001171.6(ABCC6):c.1462G>A (p.Ala488Thr)
NM_001171.6(ABCC6):c.1472C>T (p.Thr491Ile)
NM_001171.6(ABCC6):c.1487G>A (p.Arg496Lys)
NM_001171.6(ABCC6):c.1491C>T (p.Asn497=) rs72653770
NM_001171.6(ABCC6):c.1493C>T (p.Ser498Leu)
NM_001171.6(ABCC6):c.1494G>A (p.Ser498=)
NM_001171.6(ABCC6):c.1501A>G (p.Ile501Val) rs772952563
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) rs772952563
NM_001171.6(ABCC6):c.1514G>A (p.Gly505Asp)
NM_001171.6(ABCC6):c.1545G>C (p.Leu515=)
NM_001171.6(ABCC6):c.1551C>T (p.Ile517=)
NM_001171.6(ABCC6):c.1552C>A (p.Arg518=)
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
NM_001171.6(ABCC6):c.1569C>T (p.Gly523=) rs145764775
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr) rs143588929
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser) rs143588929
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
NM_001171.6(ABCC6):c.1579A>G (p.Thr527Ala) rs1291272925
NM_001171.6(ABCC6):c.1584C>T (p.Ser528=)
NM_001171.6(ABCC6):c.1595T>C (p.Phe532Ser) rs2152269947
NM_001171.6(ABCC6):c.1597T>A (p.Ser533Thr) rs2152269943
NM_001171.6(ABCC6):c.1600G>T (p.Val534Leu)
NM_001171.6(ABCC6):c.1605G>A (p.Ser535=)
NM_001171.6(ABCC6):c.1606C>T (p.Leu536=) rs770172306
NM_001171.6(ABCC6):c.1609del (p.Val537fs) rs1596678798
NM_001171.6(ABCC6):c.1611G>A (p.Val537=) rs1486197417
NM_001171.6(ABCC6):c.1617C>A (p.Phe539Leu) rs2152269915
NM_001171.6(ABCC6):c.1626T>C (p.Ser542=) rs2152269911
NM_001171.6(ABCC6):c.1635+7T>A rs533353511
NM_001171.6(ABCC6):c.1636-10C>G
NM_001171.6(ABCC6):c.1636-10del rs749673884
NM_001171.6(ABCC6):c.1636-10dup
NM_001171.6(ABCC6):c.1636-16C>T rs529292262
NM_001171.6(ABCC6):c.1636-18G>A rs760744820
NM_001171.6(ABCC6):c.1636-3C>T rs2047748862
NM_001171.6(ABCC6):c.1636-5C>G rs771552185
NM_001171.6(ABCC6):c.1636-7C>A
NM_001171.6(ABCC6):c.1636-7C>G rs763037164
NM_001171.6(ABCC6):c.1636-8C>T
NM_001171.6(ABCC6):c.1639G>T (p.Ala547Ser)
NM_001171.6(ABCC6):c.1644G>A (p.Leu548=)
NM_001171.6(ABCC6):c.1647G>C (p.Val549=)
NM_001171.6(ABCC6):c.1660C>A (p.His554Asn) rs2152268648
NM_001171.6(ABCC6):c.1674C>T (p.Ala558=)
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1684A>G (p.Met562Val)
NM_001171.6(ABCC6):c.1711C>G (p.Leu571Val) rs1428489942
NM_001171.6(ABCC6):c.1727T>C (p.Ile576Thr) rs770677975
NM_001171.6(ABCC6):c.1731C>T (p.Leu577=)
NM_001171.6(ABCC6):c.1742A>G (p.Gln581Arg) rs1266600508
NM_001171.6(ABCC6):c.1749C>T (p.Phe583=)
NM_001171.6(ABCC6):c.1755del (p.Phe586fs)
NM_001171.6(ABCC6):c.1764C>G (p.Ile588Met)
NM_001171.6(ABCC6):c.1766A>G (p.His589Arg)
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe)
NM_001171.6(ABCC6):c.1771C>G (p.Leu591Val)
NM_001171.6(ABCC6):c.1774G>T (p.Val592Phe) rs190761354
NM_001171.6(ABCC6):c.1779+16G>A
NM_001171.6(ABCC6):c.1779+18G>A
NM_001171.6(ABCC6):c.1779+20T>C rs2152268418
NM_001171.6(ABCC6):c.1780-10G>T
NM_001171.6(ABCC6):c.1780-3T>C
NM_001171.6(ABCC6):c.1782C>A (p.Ala594=)
NM_001171.6(ABCC6):c.1786del (p.Val596fs)
NM_001171.6(ABCC6):c.1791del (p.Phe598fs)
NM_001171.6(ABCC6):c.1810T>G (p.Phe604Val) rs2152266400
NM_001171.6(ABCC6):c.1815C>G (p.Leu605=)
NM_001171.6(ABCC6):c.1835C>T (p.Pro612Leu)
NM_001171.6(ABCC6):c.1841_1842delinsCT (p.Val614Ala)
NM_001171.6(ABCC6):c.1846G>T (p.Asp616Tyr)
NM_001171.6(ABCC6):c.1855T>G (p.Ser619Ala)
NM_001171.6(ABCC6):c.1867+13T>C
NM_001171.6(ABCC6):c.1867G>A (p.Ala623Thr)
NM_001171.6(ABCC6):c.1868-16C>G
NM_001171.6(ABCC6):c.1868-16C>T rs781220256
NM_001171.6(ABCC6):c.1868-4G>T rs2152263658
NM_001171.6(ABCC6):c.1868-9G>A
NM_001171.6(ABCC6):c.1873G>A (p.Gly625Arg)
NM_001171.6(ABCC6):c.1878G>A (p.Lys626=)
NM_001171.6(ABCC6):c.1879G>A (p.Asp627Asn) rs1466190573
NM_001171.6(ABCC6):c.1881T>C (p.Asp627=)
NM_001171.6(ABCC6):c.1885A>G (p.Ile629Val) rs1208037787
NM_001171.6(ABCC6):c.1886T>C (p.Ile629Thr)
NM_001171.6(ABCC6):c.1889_1890delinsTG (p.Thr630Met) rs2152263591
NM_001171.6(ABCC6):c.1892T>C (p.Ile631Thr)
NM_001171.6(ABCC6):c.1938C>T (p.Leu646=) rs578241312
NM_001171.6(ABCC6):c.1943+10G>A
NM_001171.6(ABCC6):c.1943+10G>C rs116092959
NM_001171.6(ABCC6):c.1943+15C>A rs1596664130
NM_001171.6(ABCC6):c.1943+16del
NM_001171.6(ABCC6):c.1944-16C>T
NM_001171.6(ABCC6):c.1944-5T>C
NM_001171.6(ABCC6):c.1944-9C>T rs59385722
NM_001171.6(ABCC6):c.1953C>G (p.Leu651=)
NM_001171.6(ABCC6):c.1956G>C (p.Thr652=)
NM_001171.6(ABCC6):c.1960C>T (p.Pro654Ser)
NM_001171.6(ABCC6):c.1966G>A (p.Gly656Ser)
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser) rs72653780
NM_001171.6(ABCC6):c.1987G>C (p.Gly663Arg)
NM_001171.6(ABCC6):c.1990C>A (p.Pro664Thr) rs59002125
NM_001171.6(ABCC6):c.1999G>T (p.Ala667Ser)
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2004G>C (p.Gly668=)
NM_001171.6(ABCC6):c.2006A>G (p.Lys669Arg) rs2152259690
NM_001171.6(ABCC6):c.2016G>A (p.Leu672=) rs1322533791
NM_001171.6(ABCC6):c.2017C>T (p.Leu673=) rs749625887
NM_001171.6(ABCC6):c.2022C>T (p.Ser674=)
NM_001171.6(ABCC6):c.2023G>A (p.Ala675Thr)
NM_001171.6(ABCC6):c.2025C>A (p.Ala675=) rs1596657871
NM_001171.6(ABCC6):c.2027T>C (p.Leu676Pro) rs1172625798
NM_001171.6(ABCC6):c.2029_2031del (p.Leu677del)
NM_001171.6(ABCC6):c.2043A>G (p.Ser681=)
NM_001171.6(ABCC6):c.2044_2045del (p.Lys682fs)
NM_001171.6(ABCC6):c.2045A>T (p.Lys682Met)
NM_001171.6(ABCC6):c.2061G>A (p.Val687=)
NM_001171.6(ABCC6):c.2063G>A (p.Ser688Asn)
NM_001171.6(ABCC6):c.2068G>A (p.Glu690Lys)
NM_001171.6(ABCC6):c.2068G>T (p.Glu690Ter)
NM_001171.6(ABCC6):c.2070+10C>T
NM_001171.6(ABCC6):c.2070+12C>T
NM_001171.6(ABCC6):c.2070+20G>C
NM_001171.6(ABCC6):c.2071-12G>A
NM_001171.6(ABCC6):c.2071-18A>C
NM_001171.6(ABCC6):c.2071-1G>A rs2047513887
NM_001171.6(ABCC6):c.2071-2A>T
NM_001171.6(ABCC6):c.2078T>A (p.Val693Glu)
NM_001171.6(ABCC6):c.2079G>T (p.Val693=)
NM_001171.6(ABCC6):c.2095G>A (p.Glu699Lys)
NM_001171.6(ABCC6):c.2095G>C (p.Glu699Gln)
NM_001171.6(ABCC6):c.2101T>C (p.Trp701Arg) rs2152258991
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2112C>T (p.Asn704=) rs2152258946
NM_001171.6(ABCC6):c.2124A>G (p.Val708=)
NM_001171.6(ABCC6):c.2125G>C (p.Glu709Gln)
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter) rs114303883
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met) rs200800189
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu) rs200800189
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.2166G>A (p.Leu722=)
NM_001171.6(ABCC6):c.2169G>A (p.Glu723=)
NM_001171.6(ABCC6):c.2178A>G (p.Leu726=)
NM_001171.6(ABCC6):c.2229C>T (p.His743=)
NM_001171.6(ABCC6):c.2236A>T (p.Ile746Phe)
NM_001171.6(ABCC6):c.2248-19G>A
NM_001171.6(ABCC6):c.2248-7G>A
NM_001171.6(ABCC6):c.2262C>T (p.Ser754=)
NM_001171.6(ABCC6):c.2286C>T (p.Ser762=)
NM_001171.6(ABCC6):c.2290G>T (p.Ala764Ser) rs2152252668
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp) rs776513864
NM_001171.6(ABCC6):c.2294G>C (p.Arg765Pro)
NM_001171.6(ABCC6):c.2294G>T (p.Arg765Leu) rs67561842
NM_001171.6(ABCC6):c.2297C>T (p.Ala766Val)
NM_001171.6(ABCC6):c.2302T>C (p.Tyr768His) rs1223796455
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter) rs66492417
NM_001171.6(ABCC6):c.2306G>C (p.Arg769Thr)
NM_001171.6(ABCC6):c.2316T>C (p.Ala772=)
NM_001171.6(ABCC6):c.2328G>A (p.Leu776=)
NM_001171.6(ABCC6):c.2334C>T (p.Asp778=) rs2152252560
NM_001171.6(ABCC6):c.2335C>A (p.Pro779Thr)
NM_001171.6(ABCC6):c.2335C>G (p.Pro779Ala) rs1419792820
NM_001171.6(ABCC6):c.2338C>T (p.Leu780=)
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2360T>A (p.Val787Asp)
NM_001171.6(ABCC6):c.2365C>T (p.Gln789Ter)
NM_001171.6(ABCC6):c.2368C>T (p.His790Tyr)
NM_001171.6(ABCC6):c.2397T>C (p.Gly799=) rs770859081
NM_001171.6(ABCC6):c.2400= (p.Gly800=)
NM_001171.6(ABCC6):c.2403A>G (p.Leu801=)
NM_001171.6(ABCC6):c.2406C>T (p.Leu802=)
NM_001171.6(ABCC6):c.2407del (p.Gln803fs) rs2152252393
NM_001171.6(ABCC6):c.2408A>G (p.Gln803Arg) rs933105824
NM_001171.6(ABCC6):c.2415+11G>A
NM_001171.6(ABCC6):c.2416-10C>A
NM_001171.6(ABCC6):c.2416-5C>T
NM_001171.6(ABCC6):c.2427C>T (p.Leu809=)
NM_001171.6(ABCC6):c.2431A>G (p.Thr811Ala) rs2152250247
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.6(ABCC6):c.2433G>A (p.Thr811=)
NM_001171.6(ABCC6):c.2436C>T (p.His812=)
NM_001171.6(ABCC6):c.2443C>T (p.His815Tyr)
NM_001171.6(ABCC6):c.2445C>T (p.His815=)
NM_001171.6(ABCC6):c.2446A>T (p.Ile816Phe) rs2152250183
NM_001171.6(ABCC6):c.2448C>T (p.Ile816=)
NM_001171.6(ABCC6):c.2452C>T (p.Pro818Ser) rs2047321115
NM_001171.6(ABCC6):c.2464_2465del (p.Trp822fs)
NM_001171.6(ABCC6):c.2478G>A (p.Leu826=) rs138026855
NM_001171.6(ABCC6):c.2488G>A (p.Ala830Thr)
NM_001171.6(ABCC6):c.2493C>G (p.Ile831Met) rs910811997
NM_001171.6(ABCC6):c.2494G>A (p.Ala832Thr)
NM_001171.6(ABCC6):c.2511C>T (p.Tyr837=)
NM_001171.6(ABCC6):c.2535G>A (p.Gly845=)
NM_001171.6(ABCC6):c.2536G>C (p.Ala846Pro)
NM_001171.6(ABCC6):c.2536dup (p.Ala846fs) rs2152249910
NM_001171.6(ABCC6):c.2542= (p.Met848=)
NM_001171.6(ABCC6):c.2544G>A (p.Met848Ile)
NM_001171.6(ABCC6):c.2551C>T (p.Leu851=)
NM_001171.6(ABCC6):c.2579G>A (p.Arg860Lys)
NM_001171.6(ABCC6):c.2579GAG[1] (p.Gly861del)
NM_001171.6(ABCC6):c.2589A>G (p.Gly863=)
NM_001171.6(ABCC6):c.2590+13C>T
NM_001171.6(ABCC6):c.2590+4C>T
NM_001171.6(ABCC6):c.2591-13C>G
NM_001171.6(ABCC6):c.2599C>A (p.Pro867Thr)
NM_001171.6(ABCC6):c.2604G>A (p.Gly868=)
NM_001171.6(ABCC6):c.2626G>C (p.Gly876Arg)
NM_001171.6(ABCC6):c.2631C>T (p.Thr877=)
NM_001171.6(ABCC6):c.2644A>C (p.Arg882=)
NM_001171.6(ABCC6):c.2662G>A (p.Glu888Lys)
NM_001171.6(ABCC6):c.2666+18C>T
NM_001171.6(ABCC6):c.2666+8C>G rs376554789
NM_001171.6(ABCC6):c.2667-9A>G
NM_001171.6(ABCC6):c.2670C>T (p.Ser890=)
NM_001171.6(ABCC6):c.2678C>T (p.Ser893Leu)
NM_001171.6(ABCC6):c.2685T>G (p.Pro895=) rs760288790
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) rs775243858
NM_001171.6(ABCC6):c.2692G>A (p.Asp898Asn)
NM_001171.6(ABCC6):c.2692G>T (p.Asp898Tyr)
NM_001171.6(ABCC6):c.2698dup (p.Thr900fs) rs2152243320
NM_001171.6(ABCC6):c.2727T>C (p.Pro909=) rs2047173093
NM_001171.6(ABCC6):c.2736C>T (p.Asp912=)
NM_001171.6(ABCC6):c.2737C>A (p.Pro913Thr)
NM_001171.6(ABCC6):c.2738C>T (p.Pro913Leu) rs765456179
NM_001171.6(ABCC6):c.2747C>T (p.Ala916Val)
NM_001171.6(ABCC6):c.2752T>G (p.Trp918Gly)
NM_001171.6(ABCC6):c.2758G>C (p.Ala920Pro)
NM_001171.6(ABCC6):c.2777A>G (p.Gln926Arg)
NM_001171.6(ABCC6):c.2781C>A (p.Tyr927Ter) rs61731973
NM_001171.6(ABCC6):c.2781C>G (p.Tyr927Ter)
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer) rs765405352
NM_001171.6(ABCC6):c.2787+13_2787+16dup
NM_001171.6(ABCC6):c.2787+17C>A
NM_001171.6(ABCC6):c.2787+20A>G
NM_001171.6(ABCC6):c.2788-12T>C
NM_001171.6(ABCC6):c.2788-7G>A rs2152235920
NM_001171.6(ABCC6):c.2792A>G (p.Lys931Arg)
NM_001171.6(ABCC6):c.2796C>A (p.Ala932=)
NM_001171.6(ABCC6):c.2796C>T (p.Ala932=)
NM_001171.6(ABCC6):c.2814C>A (p.Tyr938Ter) rs72653704
NM_001171.6(ABCC6):c.2818C>A (p.Arg940Ser)
NM_001171.6(ABCC6):c.2818C>T (p.Arg940Cys)
NM_001171.6(ABCC6):c.2849C>T (p.Ala950Val)
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.2875G>C (p.Val959Leu)
NM_001171.6(ABCC6):c.2884T>C (p.Phe962Leu)
NM_001171.6(ABCC6):c.2889C>A (p.Cys963Ter) rs2152235635
NM_001171.6(ABCC6):c.2891G>A (p.Arg964Gln)
NM_001171.6(ABCC6):c.2897A>G (p.Tyr966Cys) rs2046997465
NM_001171.6(ABCC6):c.2899T>C (p.Trp967Arg) rs2152235602
NM_001171.6(ABCC6):c.2908C>T (p.Leu970=)
NM_001171.6(ABCC6):c.2915C>T (p.Ala972Val)
NM_001171.6(ABCC6):c.2917G>A (p.Asp973Asn)
NM_001171.6(ABCC6):c.2919C>T (p.Asp973=)
NM_001171.6(ABCC6):c.2921A>G (p.Asp974Gly)
NM_001171.6(ABCC6):c.2921A>T (p.Asp974Val) rs147391297
NM_001171.6(ABCC6):c.2926G>A (p.Ala976Thr) rs1310683915
NM_001171.6(ABCC6):c.2928A>C (p.Ala976=)
NM_001171.6(ABCC6):c.2934T>G (p.Gly978=)
NM_001171.6(ABCC6):c.2943G>A (p.Gln981=) rs368465318
NM_001171.6(ABCC6):c.2943G>T (p.Gln981His) rs368465318
NM_001171.6(ABCC6):c.2945C>T (p.Thr982Met)
NM_001171.6(ABCC6):c.2954C>T (p.Ala985Val)
NM_001171.6(ABCC6):c.2955C>A (p.Ala985=)
NM_001171.6(ABCC6):c.2960G>A (p.Arg987His)
NM_001171.6(ABCC6):c.2964C>A (p.Gly988=)
NM_001171.6(ABCC6):c.2967G>C (p.Gly989=)
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.2977C>T (p.Leu993Phe)
NM_001171.6(ABCC6):c.2987G>C (p.Cys996Ser)
NM_001171.6(ABCC6):c.2995+12C>T
NM_001171.6(ABCC6):c.2995+14G>A
NM_001171.6(ABCC6):c.2995+20_2995+22del
NM_001171.6(ABCC6):c.2995+4C>G
NM_001171.6(ABCC6):c.2995+9C>T
NM_001171.6(ABCC6):c.2996-5C>T
NM_001171.6(ABCC6):c.2996-9C>T
NM_001171.6(ABCC6):c.3003G>A (p.Gly1001=) rs971331274
NM_001171.6(ABCC6):c.3018G>A (p.Met1006Ile)
NM_001171.6(ABCC6):c.3023C>T (p.Ala1008Val)
NM_001171.6(ABCC6):c.3035G>A (p.Gly1012Asp)
NM_001171.6(ABCC6):c.3042C>T (p.Ala1014=)
NM_001171.6(ABCC6):c.3044G>A (p.Arg1015Gln)
NM_001171.6(ABCC6):c.3045G>A (p.Arg1015=)
NM_001171.6(ABCC6):c.3046G>T (p.Ala1016Ser)
NM_001171.6(ABCC6):c.3053G>A (p.Arg1018Lys) rs908776022
NM_001171.6(ABCC6):c.3063C>A (p.Phe1021Leu)
NM_001171.6(ABCC6):c.3077G>A (p.Trp1026Ter)
NM_001171.6(ABCC6):c.3086T>C (p.Val1029Ala) rs2152228519
NM_001171.6(ABCC6):c.3089G>C (p.Arg1030Pro)
NM_001171.6(ABCC6):c.3092C>G (p.Ser1031Cys) rs998685024
NM_001171.6(ABCC6):c.3114G>T (p.Arg1038=) rs1475667555
NM_001171.6(ABCC6):c.3139C>T (p.Arg1047Cys)
NM_001171.6(ABCC6):c.3149_3160del (p.Lys1050_Asp1053del) rs1235573595
NM_001171.6(ABCC6):c.3150G>A (p.Lys1050=)
NM_001171.6(ABCC6):c.3159C>A (p.Asp1053Glu)
NM_001171.6(ABCC6):c.3159C>G (p.Asp1053Glu) rs780915265
NM_001171.6(ABCC6):c.3162G>A (p.Thr1054=)
NM_001171.6(ABCC6):c.3162G>T (p.Thr1054=) rs374140753
NM_001171.6(ABCC6):c.3170T>A (p.Val1057Glu) rs759678455
NM_001171.6(ABCC6):c.3184A>G (p.Lys1062Glu)
NM_001171.6(ABCC6):c.3195C>T (p.Ser1065=)
NM_001171.6(ABCC6):c.3208G>A (p.Ala1070Thr)
NM_001171.6(ABCC6):c.3226G>T (p.Val1076Phe)
NM_001171.6(ABCC6):c.3244G>C (p.Val1082Leu)
NM_001171.6(ABCC6):c.3256_3257dup (p.Ala1087fs)
NM_001171.6(ABCC6):c.3264T>G (p.Thr1088=)
NM_001171.6(ABCC6):c.3279A>T (p.Pro1093=) rs1403370874
NM_001171.6(ABCC6):c.3282G>A (p.Leu1094=)
NM_001171.6(ABCC6):c.3291C>T (p.Leu1097=) rs1477555618
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter) rs371889155
NM_001171.6(ABCC6):c.3295G>A (p.Ala1099Thr) rs773773146
NM_001171.6(ABCC6):c.3299G>A (p.Gly1100Glu)
NM_001171.6(ABCC6):c.3301T>C (p.Phe1101Leu)
NM_001171.6(ABCC6):c.3304C>T (p.Gln1102Ter)
NM_001171.6(ABCC6):c.3306+14A>G
NM_001171.6(ABCC6):c.3306+4C>T
NM_001171.6(ABCC6):c.3306+7A>C
NM_001171.6(ABCC6):c.3306+8G>A
NM_001171.6(ABCC6):c.3307-10T>C
NM_001171.6(ABCC6):c.3307-5C>T rs781312345
NM_001171.6(ABCC6):c.3308G>A (p.Ser1103Asn)
NM_001171.6(ABCC6):c.3312G>C (p.Leu1104=)
NM_001171.6(ABCC6):c.3315T>C (p.Tyr1105=) rs1268592638
NM_001171.6(ABCC6):c.3315T>G (p.Tyr1105Ter) rs1268592638
NM_001171.6(ABCC6):c.3318G>T (p.Val1106=)
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.3335dup (p.Arg1113fs)
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.6(ABCC6):c.3342C>A (p.Arg1114=)
NM_001171.6(ABCC6):c.3348G>C (p.Glu1116Asp)
NM_001171.6(ABCC6):c.3349T>C (p.Ser1117Pro)
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu) rs63750987
NM_001171.6(ABCC6):c.3377A>C (p.His1126Pro)
NM_001171.6(ABCC6):c.3385G>A (p.Glu1129Lys)
NM_001171.6(ABCC6):c.3404C>T (p.Thr1135Ile)
NM_001171.6(ABCC6):c.3416C>T (p.Ala1139Val)
NM_001171.6(ABCC6):c.3427del (p.Gln1143fs)
NM_001171.6(ABCC6):c.3435C>G (p.Pro1145=)
NM_001171.6(ABCC6):c.3446A>C (p.Gln1149Pro)
NM_001171.6(ABCC6):c.3453T>C (p.Asn1151=)
NM_001171.6(ABCC6):c.3455C>T (p.Ala1152Val)
NM_001171.6(ABCC6):c.3482G>A (p.Ser1161Asn) rs2046769373
NM_001171.6(ABCC6):c.3483T>C (p.Ser1161=)
NM_001171.6(ABCC6):c.3497del (p.Val1166fs) rs2152224246
NM_001171.6(ABCC6):c.3506+12C>T
NM_001171.6(ABCC6):c.3506+1G>A
NM_001171.6(ABCC6):c.3506+20A>C rs1471090780
NM_001171.6(ABCC6):c.3506+2T>C rs2152224232
NM_001171.6(ABCC6):c.3507-17_3507-16inv
NM_001171.6(ABCC6):c.3507-2A>G
NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter)
NM_001171.6(ABCC6):c.3515C>A (p.Ala1172Glu)
NM_001171.6(ABCC6):c.3522T>C (p.Asn1174=)
NM_001171.6(ABCC6):c.3525G>A (p.Val1175=)
NM_001171.6(ABCC6):c.3549G>A (p.Val1183=)
NM_001171.6(ABCC6):c.3560C>T (p.Ala1187Val) rs1293676720
NM_001171.6(ABCC6):c.3566G>A (p.Cys1189Tyr)
NM_001171.6(ABCC6):c.3567T>C (p.Cys1189=)
NM_001171.6(ABCC6):c.3571G>A (p.Val1191Met)
NM_001171.6(ABCC6):c.3578G>A (p.Ser1193Asn) rs2152221984
NM_001171.6(ABCC6):c.3579C>T (p.Ser1193=)
NM_001171.6(ABCC6):c.3593G>A (p.Ser1198Asn)
NM_001171.6(ABCC6):c.3595G>A (p.Ala1199Thr) rs1236608026
NM_001171.6(ABCC6):c.3603C>T (p.Leu1201=)
NM_001171.6(ABCC6):c.3614_3615del (p.Ser1205fs) rs745900279
NM_001171.6(ABCC6):c.3617T>C (p.Val1206Ala) rs1331420687
NM_001171.6(ABCC6):c.3618C>T (p.Val1206=)
NM_001171.6(ABCC6):c.3621T>C (p.Ser1207=)
NM_001171.6(ABCC6):c.3625G>A (p.Ala1209Thr) rs750630523
NM_001171.6(ABCC6):c.3628C>G (p.Leu1210Val)
NM_001171.6(ABCC6):c.3630C>T (p.Leu1210=)
NM_001171.6(ABCC6):c.3633+14C>G rs2152221821
NM_001171.6(ABCC6):c.3633+19A>G
NM_001171.6(ABCC6):c.3633+5T>C
NM_001171.6(ABCC6):c.3634-13T>C
NM_001171.6(ABCC6):c.3634-15G>A rs755947755
NM_001171.6(ABCC6):c.3634-15G>C
NM_001171.6(ABCC6):c.3634-15G>T
NM_001171.6(ABCC6):c.3634-17A>G
NM_001171.6(ABCC6):c.3634-20G>A
NM_001171.6(ABCC6):c.3639C>T (p.Thr1213=)
NM_001171.6(ABCC6):c.3652T>C (p.Trp1218Arg)
NM_001171.6(ABCC6):c.3654G>T (p.Trp1218Cys)
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter) rs72653745
NM_001171.6(ABCC6):c.3670A>G (p.Thr1224Ala)
NM_001171.6(ABCC6):c.3671C>T (p.Thr1224Ile)
NM_001171.6(ABCC6):c.3675C>T (p.Asp1225=)
NM_001171.6(ABCC6):c.3684C>T (p.Asn1228=) rs2046647298
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.3690C>A (p.Ile1230=)
NM_001171.6(ABCC6):c.3690C>T (p.Ile1230=) rs368931767
NM_001171.6(ABCC6):c.3691G>T (p.Val1231Leu)
NM_001171.6(ABCC6):c.3699G>A (p.Val1233=)
NM_001171.6(ABCC6):c.3713A>T (p.Asp1238Val)
NM_001171.6(ABCC6):c.3726G>A (p.Thr1242=)
NM_001171.6(ABCC6):c.3731A>G (p.Lys1244Arg)
NM_001171.6(ABCC6):c.3732G>A (p.Lys1244=) rs773961518
NM_001171.6(ABCC6):c.3735+12G>C
NM_001171.6(ABCC6):c.3735+14G>A
NM_001171.6(ABCC6):c.3735+3G>A
NM_001171.6(ABCC6):c.3735+3G>C
NM_001171.6(ABCC6):c.3735+9C>A
NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=) rs281865557
NM_001171.6(ABCC6):c.3736-12C>G
NM_001171.6(ABCC6):c.3736-20A>G rs2046600338
NM_001171.6(ABCC6):c.3736-6C>T
NM_001171.6(ABCC6):c.3736-7_3736-6delinsAA
NM_001171.6(ABCC6):c.3739C>A (p.Pro1247Thr) rs199694536
NM_001171.6(ABCC6):c.3739C>T (p.Pro1247Ser) rs199694536
NM_001171.6(ABCC6):c.3740C>G (p.Pro1247Arg)
NM_001171.6(ABCC6):c.3740C>T (p.Pro1247Leu)
NM_001171.6(ABCC6):c.3754A>C (p.Thr1252Pro)
NM_001171.6(ABCC6):c.3755C>G (p.Thr1252Arg)
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3769C>A (p.Pro1257Thr)
NM_001171.6(ABCC6):c.3773C>G (p.Pro1258Arg)
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3779C>A (p.Pro1260His) rs2046597413
NM_001171.6(ABCC6):c.3783G>A (p.Gln1261=)
NM_001171.6(ABCC6):c.3786C>T (p.Gly1262=)
NM_001171.6(ABCC6):c.3795C>A (p.Ile1265=)
NM_001171.6(ABCC6):c.3798G>A (p.Glu1266=) rs2152216113
NM_001171.6(ABCC6):c.3804G>A (p.Arg1268=)
NM_001171.6(ABCC6):c.3810T>C (p.Phe1270=)
NM_001171.6(ABCC6):c.3817A>C (p.Arg1273=)
NM_001171.6(ABCC6):c.3824G>A (p.Arg1275Gln)
NM_001171.6(ABCC6):c.3835_3838del (p.Pro1279fs)
NM_001171.6(ABCC6):c.3846G>T (p.Val1282=)
NM_001171.6(ABCC6):c.3877G>C (p.Glu1293Gln) rs63750625
NM_001171.6(ABCC6):c.3882+8G>A
NM_001171.6(ABCC6):c.3882+9T>C rs2152215884
NM_001171.6(ABCC6):c.3883-10C>A rs965791272
NM_001171.6(ABCC6):c.3883G>C (p.Val1295Leu) rs767119931
NM_001171.6(ABCC6):c.3885G>A (p.Val1295=)
NM_001171.6(ABCC6):c.3885G>C (p.Val1295=)
NM_001171.6(ABCC6):c.3890T>A (p.Ile1297Asn)
NM_001171.6(ABCC6):c.3895G>C (p.Gly1299Arg) rs63750446
NM_001171.6(ABCC6):c.3900G>A (p.Arg1300=)
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.3911G>A (p.Gly1304Glu)
NM_001171.6(ABCC6):c.3913_3931dup (p.Gly1311fs)
NM_001171.6(ABCC6):c.3927C>T (p.Ala1309=)
NM_001171.6(ABCC6):c.3934C>T (p.Leu1312=)
NM_001171.6(ABCC6):c.3939G>A (p.Leu1313=) rs371122759
NM_001171.6(ABCC6):c.3939G>T (p.Leu1313=)
NM_001171.6(ABCC6):c.3941G>T (p.Arg1314Leu)
NM_001171.6(ABCC6):c.3945C>A (p.Leu1315=) rs2152212364
NM_001171.6(ABCC6):c.3976G>A (p.Asp1326Asn)
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.3989T>C (p.Ile1330Thr)
NM_001171.6(ABCC6):c.3992C>T (p.Ala1331Val)
NM_001171.6(ABCC6):c.3996C>G (p.His1332Gln) rs60320257
NM_001171.6(ABCC6):c.3996C>T (p.His1332=) rs60320257
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) rs63750235
NM_001171.6(ABCC6):c.4002G>T (p.Gly1334=)
NM_001171.6(ABCC6):c.4005G>A (p.Leu1335=)
NM_001171.6(ABCC6):c.4010C>T (p.Thr1337Ile) rs780504422
NM_001171.6(ABCC6):c.4011A>G (p.Thr1337=)
NM_001171.6(ABCC6):c.4015C>A (p.Arg1339Ser)
NM_001171.6(ABCC6):c.4020C>T (p.Ser1340=) rs2152212224
NM_001171.6(ABCC6):c.4031T>G (p.Ile1344Ser) rs2152212214
NM_001171.6(ABCC6):c.4033A>T (p.Ile1345Phe)
NM_001171.6(ABCC6):c.4041+16G>C
NM_001171.6(ABCC6):c.4041+16G>T
NM_001171.6(ABCC6):c.4041+17G>A
NM_001171.6(ABCC6):c.4041+18G>A rs2152212168
NM_001171.6(ABCC6):c.4041+19G>A
NM_001171.6(ABCC6):c.4042-14C>A
NM_001171.6(ABCC6):c.4042-16C>T
NM_001171.6(ABCC6):c.4042-17C>A
NM_001171.6(ABCC6):c.4042-20C>A
NM_001171.6(ABCC6):c.4042-7C>T
NM_001171.6(ABCC6):c.4042-8C>G rs1248913205
NM_001171.6(ABCC6):c.4047C>T (p.Pro1349=) rs2046488119
NM_001171.6(ABCC6):c.4050C>T (p.Ile1350=)
NM_001171.6(ABCC6):c.4056C>T (p.Phe1352=)
NM_001171.6(ABCC6):c.4060G>A (p.Gly1354Ser)
NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del) rs2152211980
NM_001171.6(ABCC6):c.4069C>A (p.Arg1357=)
NM_001171.6(ABCC6):c.4070G>C (p.Arg1357Pro)
NM_001171.6(ABCC6):c.4070G>T (p.Arg1357Leu)
NM_001171.6(ABCC6):c.4080C>T (p.Leu1360=)
NM_001171.6(ABCC6):c.4093del (p.Glu1365fs)
NM_001171.6(ABCC6):c.4095G>A (p.Glu1365=)
NM_001171.6(ABCC6):c.4101G>A (p.Ser1367=)
NM_001171.6(ABCC6):c.4108G>A (p.Ala1370Thr)
NM_001171.6(ABCC6):c.4113C>T (p.Ile1371=)
NM_001171.6(ABCC6):c.4127A>G (p.Glu1376Gly) rs2152211922
NM_001171.6(ABCC6):c.4131G>A (p.Thr1377=)
NM_001171.6(ABCC6):c.4131G>C (p.Thr1377=)
NM_001171.6(ABCC6):c.4149G>A (p.Leu1383=)
NM_001171.6(ABCC6):c.4153G>A (p.Ala1385Thr) rs1338245684
NM_001171.6(ABCC6):c.4154C>T (p.Ala1385Val)
NM_001171.6(ABCC6):c.4164C>G (p.Pro1388=) rs373736094
NM_001171.6(ABCC6):c.4165G>A (p.Gly1389Ser)
NM_001171.6(ABCC6):c.4179C>T (p.Tyr1393=)
NM_001171.6(ABCC6):c.4191C>T (p.Asp1397=)
NM_001171.6(ABCC6):c.4197C>T (p.Gly1399=)
NM_001171.6(ABCC6):c.4208+11C>T
NM_001171.6(ABCC6):c.4208+6G>A rs2152211817
NM_001171.6(ABCC6):c.4208+8C>G
NM_001171.6(ABCC6):c.4209-20A>T rs1419756995
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4209-3C>T
NM_001171.6(ABCC6):c.4209-6T>C
NM_001171.6(ABCC6):c.4209C>G (p.Ser1403Arg)
NM_001171.6(ABCC6):c.4209C>T (p.Ser1403=) rs63750700
NM_001171.6(ABCC6):c.4227C>T (p.Leu1409=) rs1012389416
NM_001171.6(ABCC6):c.4234C>T (p.Leu1412=)
NM_001171.6(ABCC6):c.4236G>A (p.Leu1412=)
NM_001171.6(ABCC6):c.4248T>C (p.Leu1416=)
NM_001171.6(ABCC6):c.4251C>G (p.Leu1417=)
NM_001171.6(ABCC6):c.4252C>A (p.Arg1418=)
NM_001171.6(ABCC6):c.4252C>T (p.Arg1418Trp)
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.6(ABCC6):c.4258A>C (p.Thr1420Pro)
NM_001171.6(ABCC6):c.4269C>T (p.Leu1423=)
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)
NM_001171.6(ABCC6):c.4293C>T (p.Ala1431=)
NM_001171.6(ABCC6):c.4297del (p.Asp1433fs)
NM_001171.6(ABCC6):c.4302T>C (p.Pro1434=)
NM_001171.6(ABCC6):c.4308G>A (p.Thr1436=)
NM_001171.6(ABCC6):c.4404-17C>G
NM_001171.6(ABCC6):c.4404-17C>T rs751418161
NM_001171.6(ABCC6):c.4404-20T>C rs754748834
NM_001171.6(ABCC6):c.4404-20T>G rs754748834
NM_001171.6(ABCC6):c.4404-23_4404-20del
NM_001171.6(ABCC6):c.4404-5C>T
NM_001171.6(ABCC6):c.4404-7C>A rs1286395823
NM_001171.6(ABCC6):c.4417G>A (p.Asp1473Asn) rs1434006743
NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu) rs1596578599
NM_001171.6(ABCC6):c.4434A>G (p.Ala1478=)
NM_001171.6(ABCC6):c.4440C>T (p.Ser1480=)
NM_001171.6(ABCC6):c.4445G>C (p.Ser1482Thr)
NM_001171.6(ABCC6):c.4446C>A (p.Ser1482Arg)
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) rs63750135
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.4459_4470del (p.Leu1487_Lys1490del) rs1219230462
NM_001171.6(ABCC6):c.4482C>T (p.Tyr1494=)
NM_001171.6(ABCC6):c.4484G>C (p.Arg1495Thr)
NM_001171.6(ABCC6):c.4489G>A (p.Ala1497Thr)
NM_001171.6(ABCC6):c.4490C>T (p.Ala1497Val)
NM_001171.6(ABCC6):c.4512_*5del (p.Ter1504Xaa)

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