ClinVar Miner

List of variants studied for autosomal recessive inherited pseudoxanthoma elasticum

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 557
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3633+100A>C rs3851721 0.97755
NM_001171.6(ABCC6):c.2787+62T>C rs11866320 0.97736
NM_001171.6(ABCC6):c.2788-127A>G rs7201980 0.97599
NM_001171.6(ABCC6):c.2788-154T>C rs6498608 0.97501
NM_001171.6(ABCC6):c.3882+85C>T rs3896244 0.97343
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001171.6(ABCC6):c.1432-48G>A rs7193932 0.95000
NM_001171.6(ABCC6):c.1338+7C>G rs9940089 0.75013
NM_001171.6(ABCC6):c.1431+73C>G rs6498618 0.71456
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala) rs12931472 0.44841
NM_001171.6(ABCC6):c.1867+92G>A rs7192265 0.44653
NM_001171.6(ABCC6):c.1780-86G>T rs4369696 0.44514
NM_001171.6(ABCC6):c.1867+86T>C rs7192961 0.43963
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.4404-31A>G rs212097 0.35863
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.1432-41A>G rs2239322 0.23891
NM_001171.6(ABCC6):c.1635+48C>T rs55707615 0.23698
NM_001171.6(ABCC6):c.1338+62C>G rs58394656 0.23048
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.3633+55C>T rs3213470 0.20050
NM_001171.6(ABCC6):c.3633+90G>A rs2376957 0.19271
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.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.*17G>A rs3902401 0.05552
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.345+26C>T rs56019914 0.03581
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
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.662+12C>T rs1555520951 0.01842
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.474+13G>A rs111339199 0.01326
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
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.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
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.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
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.600+23C>T rs72664290 0.00101
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_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
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.3978C>T (p.Asp1326=) rs57499803 0.00067
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.3507-15C>T rs374776435 0.00034
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) rs376210462 0.00033
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
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.396A>G (p.Ser132=) rs913912489 0.00025
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) rs58494932 0.00024
NM_001171.6(ABCC6):c.2247+22T>G rs72664298 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001171.6(ABCC6):c.1141T>C (p.Leu381=) rs72664284 0.00018
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.2074G>A (p.Ala692Thr) rs151272575 0.00016
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) rs534017491 0.00016
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=) rs145693403 0.00014
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.1120C>G (p.Leu374Val) rs370022963 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.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.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.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=) rs372041663 0.00009
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.345+10C>T rs768002646 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 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.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) rs372059636 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.1338+16A>C rs764198351 0.00006
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) rs145764775 0.00006
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) rs372235202 0.00006
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) rs777566074 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.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) rs749463148 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.3691G>A (p.Val1231Met) rs141728905 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.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.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.841A>G (p.Lys281Glu) rs879274205 0.00005
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.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.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) rs756768329 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.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) rs760304927 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 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.4382G>A (p.Arg1461His) rs57288618 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001171.6(ABCC6):c.600+1G>A rs1187315015 0.00004
NM_001171.6(ABCC6):c.113G>C (p.Trp38Ser) rs72653752 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.1318T>G (p.Cys440Gly) rs72653766 0.00003
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) rs761847996 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=) rs767365625 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 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.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.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.3735G>T (p.Glu1245Asp) rs281865557 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.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.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 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.1735A>G (p.Lys579Glu) rs749017755 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 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.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.268G>A (p.Ala90Thr) rs957828732 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.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.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.386G>A (p.Gly129Glu) rs72653753 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.4241G>A (p.Arg1414His) rs775319351 0.00002
NM_001171.6(ABCC6):c.951C>A (p.Ser317Arg) rs78678589 0.00002
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp) rs72653761 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.1255C>T (p.Arg419Trp) rs775853778 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val) rs940803158 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.1603T>C (p.Ser535Pro) rs72653773 0.00001
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) rs914084997 0.00001
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) rs143092672 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1814T>C (p.Leu605Pro) rs768271196 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.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.2153A>G (p.Asp718Gly) rs1357894483 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.2279G>A (p.Arg760Gln) rs769405586 0.00001
NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro) rs72653797 0.00001
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798 0.00001
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter) rs1412967184 0.00001
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953 0.00001
NM_001171.6(ABCC6):c.2511C>A (p.Tyr837Ter) rs72650702 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.2643G>T (p.Arg881Ser) rs72653800 0.00001
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter) rs1481200467 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.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro) rs1555509499 0.00001
NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter) rs1002088882 0.00001
NM_001171.6(ABCC6):c.3364del (p.Ser1122fs) rs72664232 0.00001
NM_001171.6(ABCC6):c.3370T>C (p.Cys1124Arg) rs1555508972 0.00001
NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr) rs63749998 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3397G>T (p.Gly1133Cys) rs63749807 0.00001
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) rs772396564 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.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter) rs72653746 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.3790C>T (p.Gln1264Ter) rs1311228469 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.3895G>A (p.Gly1299Ser) rs63750446 0.00001
NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly) rs780887287 0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr) rs63750608 0.00001
NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser) rs63751112 0.00001
NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=) rs63751111 0.00001
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352 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.4209C>A (p.Ser1403Arg) rs63750700 0.00001
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) rs1030872147 0.00001
NM_001171.6(ABCC6):c.4403+1G>T rs1006994885 0.00001
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) rs745761393 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.595C>T (p.Gln199Ter) rs1474063386 0.00001
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter) rs72650697 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu) rs754863487 0.00001
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
NC_000016.10:g.(?_15703134)_(16223472_?)del
NC_000016.10:g.(?_15788690)_(16185034_?)del
NG_007558.2:g.(60799_60814)_(77206_77221)del
NM_001171.5(ABCC6):c.144_795-3del
NM_001171.5(ABCC6):c.1868-?_1943+?del
NM_001171.5(ABCC6):c.1944_1965del22
NM_001171.5(ABCC6):c.220_222del rs72664225
NM_001171.5(ABCC6):c.2237_2238ins10 (p.?)
NM_001171.5(ABCC6):c.2996-1724_4209-478del
NM_001171.5(ABCC6):c.2996-?_4208+?del
NM_001171.5(ABCC6):c.3307-?_3735+?del
NM_001171.5(ABCC6):c.3307-?_3882+?del
NM_001171.6(ABCC6):c.105del (p.Val37fs) rs72664223
NM_001171.6(ABCC6):c.1064T>G (p.Leu355Arg) rs72653758
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1092_1339-1949del
NM_001171.6(ABCC6):c.1133A>C (p.Gln378Pro) rs1555518390
NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)
NM_001171.6(ABCC6):c.1176+6C>T rs72664295
NM_001171.6(ABCC6):c.1176G>C (p.Lys392Asn) rs72653763
NM_001171.6(ABCC6):c.1179_1338+2del rs1555517253
NM_001171.6(ABCC6):c.118C>T (p.Pro40Ser) rs778544828
NM_001171.6(ABCC6):c.1192A>G (p.Ser398Gly) rs72653764
NM_001171.6(ABCC6):c.1194C>G (p.Ser398Arg) rs376518465
NM_001171.6(ABCC6):c.11C>A (p.Pro4His) rs1555523872
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.6(ABCC6):c.1244T>C (p.Val415Ala) rs72653765
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1338+20C>G rs12929920
NM_001171.6(ABCC6):c.1363G>C (p.Ala455Pro) rs67996819
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) rs141309818
NM_001171.6(ABCC6):c.1388T>A (p.Leu463His) rs72653767
NM_001171.6(ABCC6):c.1396A>T (p.Asn466Tyr) rs1555515781
NM_001171.6(ABCC6):c.1413del (p.Arg473fs) rs1596687174
NM_001171.6(ABCC6):c.1432-22C>A rs72664297
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001171.6(ABCC6):c.1498A>C (p.Thr500Pro) rs1555514945
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) rs772952563
NM_001171.6(ABCC6):c.1505A>T (p.Lys502Met) rs72653771
NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter) rs368017088
NM_001171.6(ABCC6):c.1519del (p.Glu507fs) rs1555514927
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
NM_001171.6(ABCC6):c.1563G>C (p.Glu521Asp) rs1555514899
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro) rs1555514895
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.1575dup (p.Arg526fs) rs72664217
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
NM_001171.6(ABCC6):c.1589T>C (p.Leu530Pro) rs774648925
NM_001171.6(ABCC6):c.1609del (p.Val537fs) rs1596678798
NM_001171.6(ABCC6):c.1635+1G>T rs1264741133
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs) rs1555514467
NM_001171.6(ABCC6):c.1734_1742delinsG (p.Asn578fs) rs1555514439
NM_001171.6(ABCC6):c.177_181del (p.Arg60fs) rs1555523438
NM_001171.6(ABCC6):c.1780-2A>G rs1555514089
NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val) rs72653776
NM_001171.6(ABCC6):c.1799G>T (p.Arg600Leu) rs761433545
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del) rs74315110
NM_001171.6(ABCC6):c.179_195del (p.Arg60fs) rs1555523429
NM_001171.6(ABCC6):c.182G>A (p.Gly61Asp) rs72657696
NM_001171.6(ABCC6):c.1857dup (p.Ser620fs) rs72664218
NM_001171.6(ABCC6):c.1867+60A>G rs8056103
NM_001171.6(ABCC6):c.1868-57G>A rs41278182
NM_001171.6(ABCC6):c.1868-85del rs55685226
NM_001171.6(ABCC6):c.1892_1943+26del rs1555513581
NM_001171.6(ABCC6):c.1901C>T (p.Ala634Val) rs1555513604
NM_001171.6(ABCC6):c.1944-1G>C rs1438851867
NM_001171.6(ABCC6):c.1964A>G (p.Gln655Arg) rs72653779
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.6(ABCC6):c.1978del (p.Ala660fs) rs1555513222
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser) rs72653780
NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys) rs72653780
NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp) rs72653781
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2030T>C (p.Leu677Pro) rs72653782
NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)
NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro) rs72653783
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter) rs114303883
NM_001171.6(ABCC6):c.2126A>G (p.Glu709Gly) rs1555513103
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.2170_2173del (p.Arg724fs) rs1555513085
NM_001171.6(ABCC6):c.2177T>C (p.Leu726Pro) rs72653785
NM_001171.6(ABCC6):c.220-1G>C rs72664203
NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro) rs1555513073
NM_001171.6(ABCC6):c.2245C>T (p.Gln749Ter) rs66616070
NM_001171.6(ABCC6):c.2248-12_2248-11del rs111113623
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp) rs776513864
NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp) rs72653789
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter) rs66492417
NM_001171.6(ABCC6):c.2323del (p.Leu775fs) rs72664229
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn) rs72653790
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe) rs72653792
NM_001171.6(ABCC6):c.2379C>G (p.Asn793Lys) rs1555512420
NM_001171.6(ABCC6):c.2383del (p.Val795fs) rs1555512419
NM_001171.6(ABCC6):c.2416-1_2416del rs111113625
NM_001171.6(ABCC6):c.2419C>G (p.Arg807Gly) rs72653793
NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg) rs72653796
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.6(ABCC6):c.2488G>C (p.Ala830Pro) rs1555512158
NM_001171.6(ABCC6):c.2524C>T (p.Gln842Ter) rs72653703
NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro) rs72653799
NM_001171.6(ABCC6):c.2631C>A (p.Thr877=) rs72664285
NM_001171.6(ABCC6):c.2666+134del rs11295432
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) rs775243858
NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu) rs1555523855
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)
NM_001171.6(ABCC6):c.2784C>T (p.Gly928=) rs749125777
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer) rs765405352
NM_001171.6(ABCC6):c.280del (p.Ile94fs) rs1555522997
NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter) rs72653704
NM_001171.6(ABCC6):c.2820_2821insC (p.Ala941fs) rs72664219
NM_001171.6(ABCC6):c.2831C>T (p.Thr944Ile) rs72653801
NM_001171.6(ABCC6):c.2836_2851del (p.Leu946fs) rs74315152
NM_001171.6(ABCC6):c.2843T>C (p.Leu948Pro) rs1555510407
NM_001171.6(ABCC6):c.2855T>G (p.Phe952Cys) rs72657690
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter) rs2046997344
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys) rs2152235595
NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg) rs1555510357
NM_001171.6(ABCC6):c.2943G>T (p.Gln981His) rs368465318
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.2996-7_2996-4del
NM_001171.6(ABCC6):c.3032T>C (p.Leu1011Pro) rs1555509515
NM_001171.6(ABCC6):c.3119C>T (p.Pro1040Leu) rs1555509485
NM_001171.6(ABCC6):c.3124G>A (p.Gly1042Ser) rs1555509477
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.3168C>A (p.Asp1056Glu) rs72657694
NM_001171.6(ABCC6):c.3188T>C (p.Leu1063Pro) rs72657695
NM_001171.6(ABCC6):c.3207C>A (p.Tyr1069Ter) rs60975032
NM_001171.6(ABCC6):c.3208G>C (p.Ala1070Pro) rs369518454
NM_001171.6(ABCC6):c.3306+1del rs797045078
NM_001171.6(ABCC6):c.3306+5G>C rs369806278
NM_001171.6(ABCC6):c.3307-1006_3883-1050del
NM_001171.6(ABCC6):c.3307-38_3307-3delinsAGA rs1555508993
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.333dup (p.Leu112fs) rs1555522983
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.6(ABCC6):c.3343_3345del (p.Leu1115del) rs72664231
NM_001171.6(ABCC6):c.3362C>G (p.Ser1121Trp) rs63750987
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu) rs63750987
NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro) rs60791294
NM_001171.6(ABCC6):c.3427C>T (p.Gln1143Ter) rs72653743
NM_001171.6(ABCC6):c.345+12T>C rs759993107
NM_001171.6(ABCC6):c.3475A>G (p.Arg1159Gly) rs772050759
NM_001171.6(ABCC6):c.3506+2_3506+5del rs72664211
NM_001171.6(ABCC6):c.3506+83A>C rs3213473
NM_001171.6(ABCC6):c.3544dup (p.Leu1182fs) rs1555508630
NM_001171.6(ABCC6):c.36+1G>T rs1555523841
NM_001171.6(ABCC6):c.3608G>A (p.Gly1203Asp) rs63750607
NM_001171.6(ABCC6):c.3633+1G>A rs1555508604
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter) rs72653745
NM_001171.6(ABCC6):c.3676C>A (p.Leu1226Ile) rs63750125
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.3692_3693insTT (p.Ser1232fs) rs779018991
NM_001171.6(ABCC6):c.37-21_37-12del rs1555523540
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.6(ABCC6):c.3715T>C (p.Tyr1239His) rs63749992
NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter) rs72653747
NM_001171.6(ABCC6):c.3735+55del rs56822940
NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=) rs281865557
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.6(ABCC6):c.373G>T (p.Glu125Ter) rs879956688
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3775_3776insC (p.Trp1259fs) rs1555507927
NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter) rs1555507925
NM_001171.6(ABCC6):c.3798del (p.Glu1266fs) rs72664234
NM_001171.6(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer) rs1555507903
NM_001171.6(ABCC6):c.3818G>A (p.Arg1273Lys) rs63750209
NM_001171.6(ABCC6):c.3823_3870del (p.Arg1275_His1290del) rs74315128
NM_001171.6(ABCC6):c.3866_3869dup (p.Ala1291fs) rs1555507893
NM_001171.6(ABCC6):c.3876_3882+1del rs1297171898
NM_001171.6(ABCC6):c.3877G>A (p.Glu1293Lys) rs63750625
NM_001171.6(ABCC6):c.3880_3882del (p.Lys1294del) rs72664235
NM_001171.6(ABCC6):c.3883-10C>G rs965791272
NM_001171.6(ABCC6):c.3883-5G>A rs72664213
NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe) rs63751325
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.3912del (p.Lys1305fs) rs72664236
NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro) rs63751318
NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu) rs63750992
NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr) rs766105758
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) rs63750235
NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln) rs63750414
NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro) rs63750414
NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu) rs63750622
NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His) rs63751111
NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu) rs72664288
NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg) rs63750018
NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=) rs63750798
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) rs1021172050
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser) rs947230593
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.6(ABCC6):c.4220_4221insGAAA (p.Gln1408fs) rs72664222
NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs) rs387906352
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr) rs63750295
NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=) rs72664289
NM_001171.6(ABCC6):c.4306_4312del (p.Thr1436fs) rs74315109
NM_001171.6(ABCC6):c.4318del (p.Met1440fs) rs72664238
NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr) rs1462269230
NM_001171.6(ABCC6):c.4335del (p.Ser1446fs) rs72664239
NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter) rs1333662666
NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=) rs63750763
NM_001171.6(ABCC6):c.4403+11C>G rs72664215
NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter) rs72653751
NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu) rs1596578599
NM_001171.6(ABCC6):c.4434del (p.Glu1479fs) rs72664280
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.4501G>A (p.Gly1501Ser) rs63750874
NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter) rs1555523535
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) rs2606921
NM_001171.6(ABCC6):c.549G>A (p.Leu183=) rs72664281
NM_001171.6(ABCC6):c.601-2A>G rs1555520991
NM_001171.6(ABCC6):c.619G>A (p.Gly207Arg) rs72657697
NM_001171.6(ABCC6):c.61C>T (p.Pro21Ser) rs1235912910
NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys) rs72653754
NM_001171.6(ABCC6):c.676G>A (p.Gly226Arg) rs72653755
NM_001171.6(ABCC6):c.681C>G (p.Tyr227Ter) rs1315925055
NM_001171.6(ABCC6):c.708_709dup (p.Trp237fs) rs1343632105
NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter) rs763591743
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.6(ABCC6):c.766T>C (p.Trp256Arg) rs1555520136
NM_001171.6(ABCC6):c.795-131_795-3del rs1555518941
NM_001171.6(ABCC6):c.855C>T (p.Thr285=) rs4780605
NM_001171.6(ABCC6):c.865_889del (p.Leu289fs) rs74315139
NM_001171.6(ABCC6):c.938dup (p.Thr315fs) rs72664216
NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg) rs78678589
NM_001171.6(ABCC6):c.960del (p.Ser321fs) rs72664226
NM_001171.6(ABCC6):c.962del (p.Ser321fs) rs1555518824
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204
NM_001171.6(ABCC6):c.998+2del rs72664205

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