ClinVar Miner

List of variants in gene ABCC2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 894
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.1031+288A>G rs2804397 0.95413
NM_000392.5(ABCC2):c.2095-105T>C rs3740073 0.66380
NM_000392.5(ABCC2):c.3258+56T>C rs4148396 0.65059
NM_000392.5(ABCC2):c.1967+169C>T rs3740074 0.60742
NM_000392.5(ABCC2):c.867+241A>C rs6584327 0.57674
NM_000392.5(ABCC2):c.3258+271_3258+272insTGTGTGT rs55940580 0.54216
NM_000392.5(ABCC2):c.868-218G>T rs2756109 0.52389
NM_000392.5(ABCC2):c.4508+170A>G rs3740063 0.41646
NM_000392.5(ABCC2):c.334-49C>T rs2804400 0.37590
NM_000392.5(ABCC2):c.3843+124C>G rs3740067 0.30328
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) rs2273697 0.18388
NM_000392.5(ABCC2):c.-24C>T rs717620 0.15338
NM_000392.5(ABCC2):c.4146+154A>G rs3740065 0.14800
NM_000392.5(ABCC2):c.1531-275T>A rs4148391 0.11355
NM_000392.5(ABCC2):c.3742-34T>C rs17216177 0.09145
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) rs8187710 0.08637
NM_000392.5(ABCC2):c.4147-35G>A rs3740064 0.08396
NM_000392.5(ABCC2):c.4146+11G>C rs17216282 0.05624
NM_000392.5(ABCC2):c.3844-73A>G rs34456559 0.05623
NM_000392.5(ABCC2):c.4508+12G>A rs17216212 0.05622
NM_000392.5(ABCC2):c.4147-268T>C rs7920448 0.05621
NM_000392.5(ABCC2):c.4290G>T (p.Val1430=) rs1137968 0.05618
NM_000392.5(ABCC2):c.3741+154T>C rs3758395 0.05600
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) rs17222723 0.05531
NM_000392.5(ABCC2):c.3987+259T>C rs72838129 0.05517
NM_000392.5(ABCC2):c.4488C>T (p.His1496=) rs8187707 0.04774
NM_000392.5(ABCC2):c.2272-230C>T rs75947174 0.04032
NM_000392.5(ABCC2):c.3615-60T>C rs75004679 0.03531
NM_000392.5(ABCC2):c.3615-310T>C rs79176939 0.03524
NM_000392.5(ABCC2):c.4313+213G>A rs111879268 0.03516
NM_000392.5(ABCC2):c.4509-266C>A rs74923203 0.03512
NM_000392.5(ABCC2):c.4410G>A (p.Glu1470=) rs8187706 0.03502
NM_000392.5(ABCC2):c.1900+22T>C rs17222639 0.03270
NM_000392.5(ABCC2):c.4147-175G>C rs114651758 0.03255
NM_000392.5(ABCC2):c.4509-90A>G rs77877830 0.03252
NM_000392.5(ABCC2):c.4110C>T (p.Leu1370=) rs7899457 0.03237
NM_000392.5(ABCC2):c.2095-47G>A rs56874013 0.02407
NM_000392.5(ABCC2):c.1669-220A>C rs60123852 0.02322
NM_000392.5(ABCC2):c.1815+27C>G rs8187674 0.02311
NM_000392.5(ABCC2):c.4147-182C>G rs73333909 0.02181
NM_000392.5(ABCC2):c.1668+223C>A rs57420310 0.01615
NM_000392.5(ABCC2):c.4062C>T (p.Ala1354=) rs17216275 0.01590
NM_000392.5(ABCC2):c.1058G>A (p.Arg353His) rs7080681 0.01505
NM_000392.5(ABCC2):c.2546T>G (p.Leu849Arg) rs17222617 0.01435
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_000392.5(ABCC2):c.3872C>T (p.Pro1291Leu) rs17216317 0.01113
NM_000392.5(ABCC2):c.1219C>T (p.Leu407=) rs17216198 0.00876
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) rs56131651 0.00539
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr) rs17222632 0.00388
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_000392.5(ABCC2):c.3817A>G (p.Thr1273Ala) rs8187699 0.00331
NM_000392.5(ABCC2):c.*201C>T rs150176505 0.00327
NM_000392.5(ABCC2):c.4509-9T>C rs180717330 0.00294
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00269
NM_000392.5(ABCC2):c.1032-3C>T rs139800035 0.00253
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00173
NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser) rs17222540 0.00165
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) rs17222624 0.00155
NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val) rs17222554 0.00140
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr) rs57351269 0.00129
NM_000392.5(ABCC2):c.867+8T>C rs74152764 0.00127
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_000392.5(ABCC2):c.4313+11A>C rs17222681 0.00107
NM_000392.5(ABCC2):c.3614+6G>C rs17222716 0.00103
NM_000392.5(ABCC2):c.258A>G (p.Val86=) rs142443276 0.00091
NM_000392.5(ABCC2):c.2934G>A (p.Ser978=) rs3740070 0.00080
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00078
NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu) rs141413284 0.00075
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His) rs148393425 0.00062
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=) rs17216324 0.00059
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247 0.00057
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000392.5(ABCC2):c.2095-6A>G rs202210861 0.00049
NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln) rs145672804 0.00044
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu) rs142700351 0.00044
NM_000392.5(ABCC2):c.3008G>T (p.Trp1003Leu) rs147566977 0.00040
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486 0.00039
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259 0.00038
NM_000392.5(ABCC2):c.1250T>C (p.Val417Ala) rs199595780 0.00036
NM_000392.5(ABCC2):c.2408T>C (p.Val803Ala) rs148835620 0.00036
NM_000392.5(ABCC2):c.339G>A (p.Leu113=) rs151304543 0.00032
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His) rs144521346 0.00026
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_000392.5(ABCC2):c.469-9T>C rs147614414 0.00024
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn) rs149593061 0.00022
NM_000392.5(ABCC2):c.1696G>A (p.Val566Ile) rs145520251 0.00022
NM_000392.5(ABCC2):c.33+13A>G rs368321703 0.00022
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) rs56296335 0.00021
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=) rs138673546 0.00019
NM_000392.5(ABCC2):c.2499T>C (p.Val833=) rs75148532 0.00019
NM_000392.5(ABCC2):c.577-11G>T rs200883270 0.00019
NM_000392.5(ABCC2):c.1209+14G>A rs201946946 0.00018
NM_000392.5(ABCC2):c.2366C>T (p.Ser789Phe) rs56220353 0.00017
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg) rs199859869 0.00015
NM_000392.5(ABCC2):c.1585C>T (p.Arg529Trp) rs138799687 0.00012
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) rs201212360 0.00012
NM_000392.5(ABCC2):c.3436C>T (p.Arg1146Cys) rs377550597 0.00011
NM_000392.5(ABCC2):c.3888C>G (p.Ser1296Arg) rs143990242 0.00011
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp) rs147494662 0.00011
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) rs150472537 0.00009
NM_000392.5(ABCC2):c.718A>G (p.Ser240Gly) rs750440697 0.00009
NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe) rs375147383 0.00008
NM_000392.5(ABCC2):c.2461A>G (p.Ser821Gly) rs147649283 0.00007
NM_000392.5(ABCC2):c.3796A>G (p.Ile1266Val) rs148292402 0.00007
NM_000392.5(ABCC2):c.1178G>A (p.Arg393Gln) rs763509429 0.00006
NM_000392.5(ABCC2):c.1179G>A (p.Arg393=) rs200104823 0.00006
NM_000392.5(ABCC2):c.2942T>C (p.Phe981Ser) rs767455559 0.00006
NM_000392.5(ABCC2):c.3082G>A (p.Gly1028Arg) rs148887680 0.00006
NM_000392.5(ABCC2):c.3147C>T (p.Phe1049=) rs777983705 0.00006
NM_000392.5(ABCC2):c.3437G>A (p.Arg1146His) rs148551677 0.00006
NM_000392.5(ABCC2):c.3499G>A (p.Val1167Ile) rs367739304 0.00006
NM_000392.5(ABCC2):c.3547C>A (p.Leu1183Met) rs145008610 0.00006
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217 0.00006
NM_000392.5(ABCC2):c.3615G>A (p.Arg1205=) rs377593832 0.00006
NM_000392.5(ABCC2):c.3987+10G>A rs373365135 0.00006
NM_000392.5(ABCC2):c.3988-5C>T rs376356933 0.00006
NM_000392.5(ABCC2):c.4507_4508+2del rs758461922 0.00006
NM_000392.5(ABCC2):c.655C>T (p.Arg219Cys) rs572309746 0.00006
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter) rs371866713 0.00006
NM_000392.5(ABCC2):c.232C>T (p.Leu78=) rs764390911 0.00005
NM_000392.5(ABCC2):c.4546G>A (p.Gly1516Ser) rs186295082 0.00005
NM_000392.5(ABCC2):c.576+1G>A rs376398719 0.00005
NM_000392.5(ABCC2):c.1031+4A>G rs373384181 0.00004
NM_000392.5(ABCC2):c.1032-14C>A rs754368880 0.00004
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) rs781337846 0.00004
NM_000392.5(ABCC2):c.213C>T (p.Phe71=) rs770824435 0.00004
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter) rs773850184 0.00004
NM_000392.5(ABCC2):c.3011C>T (p.Thr1004Ile) rs775253982 0.00004
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=) rs774159224 0.00004
NM_000392.5(ABCC2):c.3636dup (p.Leu1213fs) rs766573679 0.00004
NM_000392.5(ABCC2):c.4240C>T (p.His1414Tyr) rs544311254 0.00004
NM_000392.5(ABCC2):c.4314C>T (p.Ser1438=) rs376790802 0.00004
NM_000392.5(ABCC2):c.470G>T (p.Gly157Val) rs140550051 0.00004
NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg) rs138663047 0.00004
NM_000392.5(ABCC2):c.577-3C>T rs370534491 0.00004
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.1769G>A (p.Arg590His) rs751940502 0.00003
NM_000392.5(ABCC2):c.1835G>A (p.Arg612Gln) rs376124211 0.00003
NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val) rs772482844 0.00003
NM_000392.5(ABCC2):c.3500dup (p.Ser1168fs) rs1333544687 0.00003
NM_000392.5(ABCC2):c.573A>G (p.Ser191=) rs200466261 0.00003
NM_000392.5(ABCC2):c.682G>A (p.Glu228Lys) rs774163715 0.00003
NM_000392.5(ABCC2):c.732G>A (p.Thr244=) rs754060673 0.00003
NM_000392.5(ABCC2):c.908A>G (p.Lys303Arg) rs200342237 0.00003
NM_000392.5(ABCC2):c.1109C>T (p.Ala370Val) rs144390464 0.00002
NM_000392.5(ABCC2):c.1319T>G (p.Met440Arg) rs996397410 0.00002
NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile) rs191954987 0.00002
NM_000392.5(ABCC2):c.2504G>A (p.Gly835Glu) rs369677401 0.00002
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) rs559908064 0.00002
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs) rs919078015 0.00002
NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter) rs183923599 0.00002
NM_000392.5(ABCC2):c.3690A>C (p.Arg1230Ser) rs753282654 0.00002
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter) rs761406918 0.00002
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401 0.00002
NM_000392.5(ABCC2):c.3973G>A (p.Gly1325Ser) rs759452729 0.00002
NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile) rs779736415 0.00002
NM_000392.5(ABCC2):c.4357C>T (p.Arg1453Trp) rs769022665 0.00002
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=) rs146718433 0.00002
NM_000392.5(ABCC2):c.4443C>T (p.Asn1481=) rs536104796 0.00002
NM_000392.5(ABCC2):c.4568A>C (p.Gln1523Pro) rs533470370 0.00002
NM_000392.5(ABCC2):c.697dup (p.Met233fs) rs1314486961 0.00002
NM_000392.5(ABCC2):c.958A>G (p.Met320Val) rs375385616 0.00002
NM_000392.5(ABCC2):c.1008G>A (p.Thr336=) rs761197359 0.00001
NM_000392.5(ABCC2):c.1051A>G (p.Ser351Gly) rs1288501345 0.00001
NM_000392.5(ABCC2):c.1183G>A (p.Ala395Thr) rs886042227 0.00001
NM_000392.5(ABCC2):c.1209+15G>A rs886046618 0.00001
NM_000392.5(ABCC2):c.1291del (p.Leu431fs) rs1208873596 0.00001
NM_000392.5(ABCC2):c.1344T>G (p.Ile448Met) rs370095941 0.00001
NM_000392.5(ABCC2):c.1429A>C (p.Asn477His) rs1564677235 0.00001
NM_000392.5(ABCC2):c.1792A>G (p.Met598Val) rs1472006497 0.00001
NM_000392.5(ABCC2):c.1815+4G>A rs574319283 0.00001
NM_000392.5(ABCC2):c.1876G>T (p.Ala626Ser) rs765154081 0.00001
NM_000392.5(ABCC2):c.1893C>A (p.Cys631Ter) rs1257076487 0.00001
NM_000392.5(ABCC2):c.1964G>A (p.Arg655Gln) rs200976632 0.00001
NM_000392.5(ABCC2):c.1967+2T>C rs387906396 0.00001
NM_000392.5(ABCC2):c.2056G>A (p.Gly686Arg) rs1359163275 0.00001
NM_000392.5(ABCC2):c.2076C>T (p.His692=) rs552538259 0.00001
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg) rs765570396 0.00001
NM_000392.5(ABCC2):c.208G>A (p.Val70Ile) rs199700510 0.00001
NM_000392.5(ABCC2):c.2095-7C>T rs774902843 0.00001
NM_000392.5(ABCC2):c.2201T>C (p.Leu734Pro) rs745982246 0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000392.5(ABCC2):c.2303G>A (p.Arg768Gln) rs536840524 0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000392.5(ABCC2):c.2426del (p.Leu809fs) rs765580991 0.00001
NM_000392.5(ABCC2):c.2439+2T>C rs200606989 0.00001
NM_000392.5(ABCC2):c.2439+6A>C rs1564688760 0.00001
NM_000392.5(ABCC2):c.2588T>C (p.Leu863Pro) rs201820826 0.00001
NM_000392.5(ABCC2):c.2963T>A (p.Met988Lys) rs748479566 0.00001
NM_000392.5(ABCC2):c.3021T>C (p.Ser1007=) rs892786074 0.00001
NM_000392.5(ABCC2):c.3104-1G>A rs1054194575 0.00001
NM_000392.5(ABCC2):c.330A>G (p.Thr110=) rs750755532 0.00001
NM_000392.5(ABCC2):c.3493G>A (p.Glu1165Lys) rs199938496 0.00001
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) rs72558201 0.00001
NM_000392.5(ABCC2):c.3524C>T (p.Ala1175Val) rs1272618565 0.00001
NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter) rs559137047 0.00001
NM_000392.5(ABCC2):c.3583A>G (p.Lys1195Glu) rs1235065840 0.00001
NM_000392.5(ABCC2):c.3742-12G>C rs1232223149 0.00001
NM_000392.5(ABCC2):c.3752C>T (p.Thr1251Ile) rs750342363 0.00001
NM_000392.5(ABCC2):c.3772A>G (p.Met1258Val) rs768755574 0.00001
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=) rs765304225 0.00001
NM_000392.5(ABCC2):c.3988-10A>G rs770712734 0.00001
NM_000392.5(ABCC2):c.3988-15G>C rs746609972 0.00001
NM_000392.5(ABCC2):c.4039C>T (p.Leu1347Phe) rs767694433 0.00001
NM_000392.5(ABCC2):c.4220G>C (p.Trp1407Ser) rs1197522109 0.00001
NM_000392.5(ABCC2):c.4382A>G (p.Asp1461Gly) rs201658889 0.00001
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=) rs780515921 0.00001
NM_000392.5(ABCC2):c.4508+6T>C rs766426423 0.00001
NM_000392.5(ABCC2):c.4528G>A (p.Gly1510Arg) rs751985179 0.00001
NM_000392.5(ABCC2):c.606T>C (p.Ser202=) rs769209663 0.00001
NM_000392.5(ABCC2):c.650A>C (p.Tyr217Ser) rs202129492 0.00001
NM_000392.5(ABCC2):c.821_822del (p.Pro274fs) rs1158274146 0.00001
NM_000392.5(ABCC2):c.855T>C (p.Asp285=) rs769700101 0.00001
NC_000010.10:g.(?_101542602)_(101544558_?)del
NC_000010.10:g.(?_101542602)_(101611388_?)del
NC_000010.10:g.(?_101551971)_(101554245_?)del
NC_000010.10:g.(?_101551971)_(101560340_?)del
NC_000010.10:g.(?_101556834)_(101560340_?)del
NC_000010.10:g.(?_101563756)_(101568006_?)del
NC_000010.10:g.(?_101567121)_(101577261_?)del
NC_000010.10:g.(?_101571273)_(101572921_?)del
NC_000010.10:g.(?_101577045)_(101579046_?)dup
NC_000010.10:g.(?_101590044)_(101596067_?)dup
NC_000010.10:g.(?_101593768)_(101596044_?)del
NC_000010.10:g.(?_101594117)_(101606904_?)del
NC_000010.10:g.(?_101594137)_(101596047_?)dup
NC_000010.10:g.(?_101601704)_(101601870_?)dup
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs) rs1554851699
NM_000392.5(ABCC2):c.1007C>G (p.Thr336Arg) rs149854486
NM_000392.5(ABCC2):c.1014G>T (p.Val338=)
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339fs) rs1564674618
NM_000392.5(ABCC2):c.1031+10C>T
NM_000392.5(ABCC2):c.1031+14C>A
NM_000392.5(ABCC2):c.1031+8T>C
NM_000392.5(ABCC2):c.1031+9C>G
NM_000392.5(ABCC2):c.1032-12T>C
NM_000392.5(ABCC2):c.1032-2A>G
NM_000392.5(ABCC2):c.1032-7C>G
NM_000392.5(ABCC2):c.1034T>G (p.Leu345Trp)
NM_000392.5(ABCC2):c.1038G>A (p.Leu346=)
NM_000392.5(ABCC2):c.1038G>C (p.Leu346=)
NM_000392.5(ABCC2):c.1050A>G (p.Ala350=)
NM_000392.5(ABCC2):c.1052del (p.Ser351fs)
NM_000392.5(ABCC2):c.1053T>C (p.Ser351=)
NM_000392.5(ABCC2):c.1074G>A (p.Trp358Ter)
NM_000392.5(ABCC2):c.1080dup (p.Tyr361fs)
NM_000392.5(ABCC2):c.1088G>A (p.Cys363Tyr) rs1564675319
NM_000392.5(ABCC2):c.1089_1090del (p.Ala364fs)
NM_000392.5(ABCC2):c.1107T>C (p.Thr369=)
NM_000392.5(ABCC2):c.1110G>A (p.Ala370=)
NM_000392.5(ABCC2):c.1110G>T (p.Ala370=)
NM_000392.5(ABCC2):c.1137G>A (p.Gln379=)
NM_000392.5(ABCC2):c.1203_1205del (p.Tyr401_Lys402delinsTer)
NM_000392.5(ABCC2):c.1206G>A (p.Lys402=)
NM_000392.5(ABCC2):c.1209+13C>T
NM_000392.5(ABCC2):c.1209+17A>C
NM_000392.5(ABCC2):c.1209+7A>G
NM_000392.5(ABCC2):c.1210-14A>C
NM_000392.5(ABCC2):c.1210-14A>G
NM_000392.5(ABCC2):c.1210-9T>G
NM_000392.5(ABCC2):c.1218C>G (p.Thr406=)
NM_000392.5(ABCC2):c.1221A>G (p.Leu407=)
NM_000392.5(ABCC2):c.1248C>A (p.Thr416=)
NM_000392.5(ABCC2):c.1248C>T (p.Thr416=)
NM_000392.5(ABCC2):c.1249_1250inv (p.Val417Thr)
NM_000392.5(ABCC2):c.1261G>A (p.Val421Met) rs1564676980
NM_000392.5(ABCC2):c.1267C>T (p.Leu423=)
NM_000392.5(ABCC2):c.1290G>A (p.Lys430=)
NM_000392.5(ABCC2):c.1293C>T (p.Leu431=)
NM_000392.5(ABCC2):c.1321C>A (p.Leu441Met) rs374787164
NM_000392.5(ABCC2):c.1321C>T (p.Leu441=)
NM_000392.5(ABCC2):c.1323G>A (p.Leu441=)
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter) rs776087856
NM_000392.5(ABCC2):c.1326G>A (p.Trp442Ter)
NM_000392.5(ABCC2):c.1338A>G (p.Leu446=)
NM_000392.5(ABCC2):c.1341G>A (p.Gln447=)
NM_000392.5(ABCC2):c.1350A>G (p.Leu450=)
NM_000392.5(ABCC2):c.1353T>G (p.Ser451=)
NM_000392.5(ABCC2):c.1363C>T (p.Leu455=)
NM_000392.5(ABCC2):c.1372G>T (p.Glu458Ter)
NM_000392.5(ABCC2):c.1375T>C (p.Leu459=)
NM_000392.5(ABCC2):c.1390T>C (p.Leu464=)
NM_000392.5(ABCC2):c.1408delinsTTGG (p.Met470delinsLeuVal) rs1564677201
NM_000392.5(ABCC2):c.1416T>C (p.Leu472=)
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=) rs4267009
NM_000392.5(ABCC2):c.1434G>T (p.Ala478=)
NM_000392.5(ABCC2):c.1435A>G (p.Ile479Val)
NM_000392.5(ABCC2):c.1439T>C (p.Leu480Pro)
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=) rs113646094
NM_000392.5(ABCC2):c.1464+11del
NM_000392.5(ABCC2):c.1464+12G>C
NM_000392.5(ABCC2):c.1464+17C>G
NM_000392.5(ABCC2):c.1464+17C>T
NM_000392.5(ABCC2):c.1464+18C>T
NM_000392.5(ABCC2):c.1464+4A>C rs753102845
NM_000392.5(ABCC2):c.1465-10T>C
NM_000392.5(ABCC2):c.1465-15C>T
NM_000392.5(ABCC2):c.1465-16G>T
NM_000392.5(ABCC2):c.1465-4G>T
NM_000392.5(ABCC2):c.1465-7C>G
NM_000392.5(ABCC2):c.1475T>C (p.Met492Thr)
NM_000392.5(ABCC2):c.1518T>C (p.Leu506=) rs746963565
NM_000392.5(ABCC2):c.1527C>A (p.Ile509=)
NM_000392.5(ABCC2):c.1530+12A>G
NM_000392.5(ABCC2):c.1530+14C>T
NM_000392.5(ABCC2):c.1530+15G>A
NM_000392.5(ABCC2):c.1530+16T>C
NM_000392.5(ABCC2):c.1530+18G>C
NM_000392.5(ABCC2):c.1531-12del
NM_000392.5(ABCC2):c.1531-12dup
NM_000392.5(ABCC2):c.1531-2A>G
NM_000392.5(ABCC2):c.1531-4T>C
NM_000392.5(ABCC2):c.1531-5A>T
NM_000392.5(ABCC2):c.1548C>G (p.Ala516=)
NM_000392.5(ABCC2):c.1575A>G (p.Val525=)
NM_000392.5(ABCC2):c.1608G>A (p.Leu536=)
NM_000392.5(ABCC2):c.1609C>A (p.Leu537Met)
NM_000392.5(ABCC2):c.1610T>C (p.Leu537Pro) rs1564679059
NM_000392.5(ABCC2):c.1617del (p.Phe539fs)
NM_000392.5(ABCC2):c.1621C>T (p.Gln541Ter) rs903690171
NM_000392.5(ABCC2):c.1624C>T (p.Leu542=)
NM_000392.5(ABCC2):c.1644C>A (p.Phe548Leu)
NM_000392.5(ABCC2):c.1644C>T (p.Phe548=)
NM_000392.5(ABCC2):c.1647C>A (p.Val549=)
NM_000392.5(ABCC2):c.1648T>G (p.Phe550Val)
NM_000392.5(ABCC2):c.1651C>T (p.Gln551Ter) rs1554849397
NM_000392.5(ABCC2):c.1655dup (p.Leu552fs)
NM_000392.5(ABCC2):c.1659T>C (p.Thr553=)
NM_000392.5(ABCC2):c.1668+148A>G rs2073337
NM_000392.5(ABCC2):c.1668+15G>A
NM_000392.5(ABCC2):c.1668+7A>T
NM_000392.5(ABCC2):c.1669-168G>A rs60190212
NM_000392.5(ABCC2):c.1669-18T>C
NM_000392.5(ABCC2):c.1669-18dup
NM_000392.5(ABCC2):c.1669-19A>G
NM_000392.5(ABCC2):c.1669-19A>T
NM_000392.5(ABCC2):c.1669-20C>T
NM_000392.5(ABCC2):c.1669-7T>C
NM_000392.5(ABCC2):c.1669-8C>G
NM_000392.5(ABCC2):c.1683A>G (p.Thr561=)
NM_000392.5(ABCC2):c.1692T>G (p.Val564=)
NM_000392.5(ABCC2):c.1695T>G (p.Tyr565Ter)
NM_000392.5(ABCC2):c.1720T>C (p.Leu574=)
NM_000392.5(ABCC2):c.1733dup (p.Ala579fs)
NM_000392.5(ABCC2):c.1746C>T (p.Ser582=)
NM_000392.5(ABCC2):c.1751C>A (p.Thr584Asn) rs1564679568
NM_000392.5(ABCC2):c.1752C>G (p.Thr584=)
NM_000392.5(ABCC2):c.1758C>T (p.Phe586=)
NM_000392.5(ABCC2):c.1770C>G (p.Arg590=)
NM_000392.5(ABCC2):c.1776C>G (p.Pro592=)
NM_000392.5(ABCC2):c.1788T>C (p.Leu596=)
NM_000392.5(ABCC2):c.1812C>T (p.Leu604=)
NM_000392.5(ABCC2):c.1815+14C>T
NM_000392.5(ABCC2):c.1815+19T>A
NM_000392.5(ABCC2):c.1815+7C>T
NM_000392.5(ABCC2):c.1815+8G>A
NM_000392.5(ABCC2):c.1815+9G>T
NM_000392.5(ABCC2):c.1816-12G>T
NM_000392.5(ABCC2):c.1816-15T>C
NM_000392.5(ABCC2):c.1816-15del
NM_000392.5(ABCC2):c.1816-18C>G
NM_000392.5(ABCC2):c.1816-18C>T
NM_000392.5(ABCC2):c.1816-19C>G
NM_000392.5(ABCC2):c.1818C>T (p.Ala606=)
NM_000392.5(ABCC2):c.1842G>A (p.Glu614=)
NM_000392.5(ABCC2):c.1845G>A (p.Lys615=)
NM_000392.5(ABCC2):c.1858del (p.Asp620fs)
NM_000392.5(ABCC2):c.1866G>A (p.Leu622=)
NM_000392.5(ABCC2):c.1875T>C (p.Ser625=)
NM_000392.5(ABCC2):c.1882C>T (p.Arg628Ter) rs775410341
NM_000392.5(ABCC2):c.1900+20G>T
NM_000392.5(ABCC2):c.1900+20_1900+31del
NM_000392.5(ABCC2):c.1900+3A>C
NM_000392.5(ABCC2):c.1901-10_1901-9dup
NM_000392.5(ABCC2):c.1901-14C>T
NM_000392.5(ABCC2):c.1901-15G>A
NM_000392.5(ABCC2):c.1901-194del rs59066738
NM_000392.5(ABCC2):c.1901-1_1903del
NM_000392.5(ABCC2):c.1901-300C>A rs7076773
NM_000392.5(ABCC2):c.1901-5A>C
NM_000392.5(ABCC2):c.1939G>C (p.Glu647Gln)
NM_000392.5(ABCC2):c.1939G>T (p.Glu647Ter)
NM_000392.5(ABCC2):c.1950G>C (p.Ser650=)
NM_000392.5(ABCC2):c.1962C>T (p.Val654=)
NM_000392.5(ABCC2):c.1963C>T (p.Arg655Ter)
NM_000392.5(ABCC2):c.1965A>G (p.Arg655=)
NM_000392.5(ABCC2):c.1967+10C>G
NM_000392.5(ABCC2):c.1967+10del
NM_000392.5(ABCC2):c.1967+15T>C
NM_000392.5(ABCC2):c.1967+18C>G
NM_000392.5(ABCC2):c.1967+9C>T
NM_000392.5(ABCC2):c.1968-11C>T
NM_000392.5(ABCC2):c.1968-16C>T
NM_000392.5(ABCC2):c.1968-1G>A
NM_000392.5(ABCC2):c.1968-1G>C rs756707816
NM_000392.5(ABCC2):c.1968-2A>C
NM_000392.5(ABCC2):c.1981A>G (p.Ile661Val) rs1564682199
NM_000392.5(ABCC2):c.1995A>G (p.Gln665=)
NM_000392.5(ABCC2):c.1998dup (p.Val667fs)
NM_000392.5(ABCC2):c.2007G>A (p.Val669=)
NM_000392.5(ABCC2):c.2013C>T (p.Gly671=) rs1590162455
NM_000392.5(ABCC2):c.2016T>C (p.Pro672=)
NM_000392.5(ABCC2):c.2019C>T (p.Val673=)
NM_000392.5(ABCC2):c.2026G>C (p.Gly676Arg)
NM_000392.5(ABCC2):c.2028G>A (p.Gly676=)
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) rs1554850241
NM_000392.5(ABCC2):c.2043A>T (p.Ile681=)
NM_000392.5(ABCC2):c.2057G>A (p.Gly686Glu)
NM_000392.5(ABCC2):c.2077G>C (p.Gly693Arg)
NM_000392.5(ABCC2):c.2078G>A (p.Gly693Glu)
NM_000392.5(ABCC2):c.208-11T>C
NM_000392.5(ABCC2):c.208-19G>A
NM_000392.5(ABCC2):c.208-20T>C
NM_000392.5(ABCC2):c.208-89C>T rs2756108
NM_000392.5(ABCC2):c.2082C>T (p.His694=)
NM_000392.5(ABCC2):c.2094+12T>C
NM_000392.5(ABCC2):c.2094+17A>G
NM_000392.5(ABCC2):c.2094+18T>C
NM_000392.5(ABCC2):c.2094+7G>A
NM_000392.5(ABCC2):c.2095-13C>A
NM_000392.5(ABCC2):c.2095-19C>A
NM_000392.5(ABCC2):c.2095-1G>A
NM_000392.5(ABCC2):c.2112C>T (p.Val704=)
NM_000392.5(ABCC2):c.2121G>A (p.Gln707=)
NM_000392.5(ABCC2):c.2124C>T (p.Ser708=)
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg) rs764958537
NM_000392.5(ABCC2):c.2139C>T (p.Gly713=) rs1564687797
NM_000392.5(ABCC2):c.2149_2151del (p.Asp717del) rs1198723210
NM_000392.5(ABCC2):c.2151C>A (p.Asp717Glu) rs1554851498
NM_000392.5(ABCC2):c.2153del (p.Asn718fs)
NM_000392.5(ABCC2):c.2202G>A (p.Leu734=)
NM_000392.5(ABCC2):c.2205G>A (p.Glu735=)
NM_000392.5(ABCC2):c.2217C>T (p.Leu739=)
NM_000392.5(ABCC2):c.2223A>G (p.Pro741=)
NM_000392.5(ABCC2):c.223CTT[1] (p.Leu76del)
NM_000392.5(ABCC2):c.2246G>T (p.Gly749Val)
NM_000392.5(ABCC2):c.2250T>C (p.Asp750=)
NM_000392.5(ABCC2):c.2252T>G (p.Leu751Trp) rs1590170184
NM_000392.5(ABCC2):c.225T>C (p.Leu75=)
NM_000392.5(ABCC2):c.2271+16A>G
NM_000392.5(ABCC2):c.2271+17_2271+18insTT
NM_000392.5(ABCC2):c.2271+19G>T
NM_000392.5(ABCC2):c.2271+2T>C
NM_000392.5(ABCC2):c.2271+7G>A
NM_000392.5(ABCC2):c.2271+9G>A
NM_000392.5(ABCC2):c.2271+9G>C
NM_000392.5(ABCC2):c.2272-15T>C
NM_000392.5(ABCC2):c.2272-16T>C
NM_000392.5(ABCC2):c.2272-17A>G
NM_000392.5(ABCC2):c.2272-18A>T
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2274T>C (p.Gly758=)
NM_000392.5(ABCC2):c.2289G>A (p.Gly763=)
NM_000392.5(ABCC2):c.2293C>T (p.Gln765Ter)
NM_000392.5(ABCC2):c.2303G>C (p.Arg768Pro) rs536840524
NM_000392.5(ABCC2):c.2306T>C (p.Ile769Thr) rs762655590
NM_000392.5(ABCC2):c.2307C>T (p.Ile769=)
NM_000392.5(ABCC2):c.2319A>G (p.Arg773=)
NM_000392.5(ABCC2):c.2325C>G (p.Thr775=)
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs) rs1564688595
NM_000392.5(ABCC2):c.2326_2329del (p.Tyr776fs)
NM_000392.5(ABCC2):c.2328C>T (p.Tyr776=)
NM_000392.5(ABCC2):c.2333del (p.Asn778fs)
NM_000392.5(ABCC2):c.2335T>C (p.Leu779=)
NM_000392.5(ABCC2):c.2337A>G (p.Leu779=)
NM_000392.5(ABCC2):c.2337_2338insCC (p.Asp780fs)
NM_000392.5(ABCC2):c.2343C>G (p.Ile781Met) rs1564688620
NM_000392.5(ABCC2):c.234A>G (p.Leu78=)
NM_000392.5(ABCC2):c.2352A>G (p.Leu784=) rs483352691
NM_000392.5(ABCC2):c.2360_2366del (p.Pro787fs)
NM_000392.5(ABCC2):c.2361C>T (p.Pro787=)
NM_000392.5(ABCC2):c.2364G>A (p.Leu788=)
NM_000392.5(ABCC2):c.2367T>G (p.Ser789=) rs1564688688
NM_000392.5(ABCC2):c.2379T>C (p.Ala793=)
NM_000392.5(ABCC2):c.2382T>C (p.His794=)
NM_000392.5(ABCC2):c.2395_2396del (p.Ile799fs)
NM_000392.5(ABCC2):c.2427G>A (p.Leu809=)
NM_000392.5(ABCC2):c.2439+10C>T
NM_000392.5(ABCC2):c.2439+12T>C rs766320733
NM_000392.5(ABCC2):c.2439+17C>T
NM_000392.5(ABCC2):c.2440-11T>C
NM_000392.5(ABCC2):c.2440-2A>G
NM_000392.5(ABCC2):c.2440-4A>G
NM_000392.5(ABCC2):c.2440-5dup
NM_000392.5(ABCC2):c.2449T>C (p.Leu817=)
NM_000392.5(ABCC2):c.2455A>G (p.Thr819Ala)
NM_000392.5(ABCC2):c.2458del (p.His820fs)
NM_000392.5(ABCC2):c.2472T>C (p.Phe824=) rs867615681
NM_000392.5(ABCC2):c.2520A>G (p.Val840=)
NM_000392.5(ABCC2):c.2550C>G (p.Ala850=)
NM_000392.5(ABCC2):c.2556del (p.Gly853fs)
NM_000392.5(ABCC2):c.2556dup (p.Gly853fs) rs1393497113
NM_000392.5(ABCC2):c.255T>A (p.Leu85=)
NM_000392.5(ABCC2):c.2568T>A (p.Ala856=)
NM_000392.5(ABCC2):c.2578A>T (p.Lys860Ter)
NM_000392.5(ABCC2):c.2580G>A (p.Lys860=)
NM_000392.5(ABCC2):c.2589A>G (p.Leu863=)
NM_000392.5(ABCC2):c.2603del (p.Pro868fs)
NM_000392.5(ABCC2):c.2610G>A (p.Glu870=)
NM_000392.5(ABCC2):c.2620+10_2620+12del rs764566414
NM_000392.5(ABCC2):c.2620+12G>C
NM_000392.5(ABCC2):c.2620+13G>T
NM_000392.5(ABCC2):c.2620+16T>A
NM_000392.5(ABCC2):c.2620+18G>A
NM_000392.5(ABCC2):c.2620+19G>A
NM_000392.5(ABCC2):c.2620+2T>C
NM_000392.5(ABCC2):c.2620+3A>G
NM_000392.5(ABCC2):c.263C>A (p.Thr88Lys) rs1564669915
NM_000392.5(ABCC2):c.27T>A (p.Thr9=)
NM_000392.5(ABCC2):c.282C>T (p.Ala94=)
NM_000392.5(ABCC2):c.2884-12G>C
NM_000392.5(ABCC2):c.2884-14T>C
NM_000392.5(ABCC2):c.2884-16G>A
NM_000392.5(ABCC2):c.2884-18G>A
NM_000392.5(ABCC2):c.2884-19T>C
NM_000392.5(ABCC2):c.2884-2A>G
NM_000392.5(ABCC2):c.2886G>A (p.Val962=)
NM_000392.5(ABCC2):c.2910C>G (p.Tyr970Ter)
NM_000392.5(ABCC2):c.2914C>T (p.Gln972Ter)
NM_000392.5(ABCC2):c.2922A>G (p.Ile974Met) rs184055071
NM_000392.5(ABCC2):c.2931_2995del (p.Phe977fs)
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.298C>T (p.Arg100Ter)
NM_000392.5(ABCC2):c.2992del (p.Leu998fs)
NM_000392.5(ABCC2):c.2994C>G (p.Leu998=)
NM_000392.5(ABCC2):c.3000C>T (p.Leu1000=)
NM_000392.5(ABCC2):c.3003T>C (p.Ser1001=)
NM_000392.5(ABCC2):c.3009G>A (p.Trp1003Ter)
NM_000392.5(ABCC2):c.3009G>C (p.Trp1003Cys) rs1564695476
NM_000392.5(ABCC2):c.3015T>C (p.Ser1005=)
NM_000392.5(ABCC2):c.3021T>G (p.Ser1007=)
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=) rs144521346
NM_000392.5(ABCC2):c.3060G>A (p.Arg1020=)
NM_000392.5(ABCC2):c.3063C>T (p.Asp1021=)
NM_000392.5(ABCC2):c.3081C>G (p.Tyr1027Ter)
NM_000392.5(ABCC2):c.3099C>T (p.Ala1033=)
NM_000392.5(ABCC2):c.3100del (p.Gln1034fs)
NM_000392.5(ABCC2):c.3103+10A>G
NM_000392.5(ABCC2):c.3103+11T>C
NM_000392.5(ABCC2):c.3103+17T>C
NM_000392.5(ABCC2):c.3103+19_3103+21del
NM_000392.5(ABCC2):c.3103+20C>A
NM_000392.5(ABCC2):c.3103+20C>T
NM_000392.5(ABCC2):c.3103+7C>T
NM_000392.5(ABCC2):c.3104-16C>T
NM_000392.5(ABCC2):c.3104-6C>T
NM_000392.5(ABCC2):c.3104-7T>C
NM_000392.5(ABCC2):c.3104-8A>G
NM_000392.5(ABCC2):c.3104-9C>T
NM_000392.5(ABCC2):c.3126T>C (p.His1042=)
NM_000392.5(ABCC2):c.3148G>A (p.Val1050Ile)
NM_000392.5(ABCC2):c.3149T>C (p.Val1050Ala)
NM_000392.5(ABCC2):c.3150C>T (p.Val1050=)
NM_000392.5(ABCC2):c.3156A>T (p.Ala1052=)
NM_000392.5(ABCC2):c.3158C>G (p.Ser1053Ter)
NM_000392.5(ABCC2):c.3166T>C (p.Leu1056=)
NM_000392.5(ABCC2):c.3180G>A (p.Leu1060=)
NM_000392.5(ABCC2):c.3195T>A (p.Leu1065=)
NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter) rs771652807
NM_000392.5(ABCC2):c.321C>T (p.Tyr107=)
NM_000392.5(ABCC2):c.3220_3226del (p.Thr1074fs) rs777325157
NM_000392.5(ABCC2):c.3231A>G (p.Thr1077=)
NM_000392.5(ABCC2):c.3246C>T (p.Asn1082=)
NM_000392.5(ABCC2):c.3255C>T (p.Ala1085=)
NM_000392.5(ABCC2):c.3258+14G>A
NM_000392.5(ABCC2):c.3258+14G>T
NM_000392.5(ABCC2):c.3258+18T>C
NM_000392.5(ABCC2):c.3258+19G>C
NM_000392.5(ABCC2):c.3258+1del
NM_000392.5(ABCC2):c.3258+271_3258+272del rs386746985
NM_000392.5(ABCC2):c.3258+2T>A
NM_000392.5(ABCC2):c.3258+2T>G
NM_000392.5(ABCC2):c.3258+2dup
NM_000392.5(ABCC2):c.3258+8T>C
NM_000392.5(ABCC2):c.33+18T>C
NM_000392.5(ABCC2):c.33+2T>C
NM_000392.5(ABCC2):c.33+7A>T
NM_000392.5(ABCC2):c.33+9T>C
NM_000392.5(ABCC2):c.333+10A>G
NM_000392.5(ABCC2):c.333+14C>A
NM_000392.5(ABCC2):c.333+16C>T
NM_000392.5(ABCC2):c.333+1G>A
NM_000392.5(ABCC2):c.333+9T>C
NM_000392.5(ABCC2):c.334-13A>C
NM_000392.5(ABCC2):c.334-20T>A
NM_000392.5(ABCC2):c.334-2A>G
NM_000392.5(ABCC2):c.334-3C>T
NM_000392.5(ABCC2):c.339G>C (p.Leu113=)
NM_000392.5(ABCC2):c.3415-10T>C
NM_000392.5(ABCC2):c.3415-16dup
NM_000392.5(ABCC2):c.3415-17T>G
NM_000392.5(ABCC2):c.3415-19_3415-17del
NM_000392.5(ABCC2):c.3415-1G>A
NM_000392.5(ABCC2):c.3415-6G>A
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141fs) rs774778158
NM_000392.5(ABCC2):c.3423T>C (p.Tyr1141=)
NM_000392.5(ABCC2):c.3424G>C (p.Val1142Leu) rs375280444
NM_000392.5(ABCC2):c.3432C>A (p.Thr1144=)
NM_000392.5(ABCC2):c.3442C>G (p.Leu1148Val) rs757405951
NM_000392.5(ABCC2):c.3451C>T (p.Leu1151=)
NM_000392.5(ABCC2):c.3465C>A (p.Thr1155=)
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158fs) rs762291612
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429
NM_000392.5(ABCC2):c.3516T>C (p.Val1172=)
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=) rs1554853606
NM_000392.5(ABCC2):c.3533del (p.His1178fs)
NM_000392.5(ABCC2):c.3535C>G (p.Gln1179Glu)
NM_000392.5(ABCC2):c.3537G>A (p.Gln1179=)
NM_000392.5(ABCC2):c.3540G>A (p.Gln1180=)
NM_000392.5(ABCC2):c.3541C>T (p.Arg1181Ter)
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu) rs8187692
NM_000392.5(ABCC2):c.3555C>T (p.His1185=)
NM_000392.5(ABCC2):c.3558T>C (p.Asn1186=)
NM_000392.5(ABCC2):c.3563_3564delinsAA (p.Val1188Glu)
NM_000392.5(ABCC2):c.3589_3590del (p.Val1197fs)
NM_000392.5(ABCC2):c.3599G>A (p.Trp1200Ter) rs577353173
NM_000392.5(ABCC2):c.3614+13C>A
NM_000392.5(ABCC2):c.3614+15G>A
NM_000392.5(ABCC2):c.3614+16G>C
NM_000392.5(ABCC2):c.3614+19A>T
NM_000392.5(ABCC2):c.3614+1G>A
NM_000392.5(ABCC2):c.3614+7C>A
NM_000392.5(ABCC2):c.3615-10_3615-6del
NM_000392.5(ABCC2):c.3615-13T>C
NM_000392.5(ABCC2):c.3615-14C>G
NM_000392.5(ABCC2):c.3615-17G>A
NM_000392.5(ABCC2):c.3615-20C>T
NM_000392.5(ABCC2):c.3615-4A>G
NM_000392.5(ABCC2):c.3648C>T (p.Asn1216=)
NM_000392.5(ABCC2):c.3666A>G (p.Ser1222=)
NM_000392.5(ABCC2):c.3669C>T (p.Ala1223=)
NM_000392.5(ABCC2):c.3684T>C (p.Ile1228=)
NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer)
NM_000392.5(ABCC2):c.3732T>C (p.Asn1244=)
NM_000392.5(ABCC2):c.3741+13G>C
NM_000392.5(ABCC2):c.3741+16G>T
NM_000392.5(ABCC2):c.3741+18G>A
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.3742-12G>T
NM_000392.5(ABCC2):c.3742-9T>G
NM_000392.5(ABCC2):c.3753C>A (p.Thr1251=)
NM_000392.5(ABCC2):c.3759C>T (p.Asn1253=)
NM_000392.5(ABCC2):c.3771G>A (p.Arg1257=)
NM_000392.5(ABCC2):c.3795C>T (p.Asn1265=)
NM_000392.5(ABCC2):c.3798T>C (p.Ile1266=)
NM_000392.5(ABCC2):c.3825C>G (p.Tyr1275Ter)
NM_000392.5(ABCC2):c.3840T>C (p.Asn1280=)
NM_000392.5(ABCC2):c.3843+18A>C
NM_000392.5(ABCC2):c.3846A>G (p.Ala1282=)
NM_000392.5(ABCC2):c.3857_3860del (p.Thr1286fs)
NM_000392.5(ABCC2):c.3867G>A (p.Arg1289=)
NM_000392.5(ABCC2):c.387C>T (p.Ser129=)
NM_000392.5(ABCC2):c.3885C>A (p.Pro1295=)
NM_000392.5(ABCC2):c.3903G>A (p.Gln1301=)
NM_000392.5(ABCC2):c.3907A>C (p.Asn1303His)
NM_000392.5(ABCC2):c.3928C>T (p.Arg1310Ter)
NM_000392.5(ABCC2):c.3930A>G (p.Arg1310=)
NM_000392.5(ABCC2):c.3944T>G (p.Leu1315Arg) rs1554854276
NM_000392.5(ABCC2):c.3957G>C (p.Gly1319=)
NM_000392.5(ABCC2):c.3958del (p.Ile1320fs)
NM_000392.5(ABCC2):c.3966T>A (p.Cys1322Ter)
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
NM_000392.5(ABCC2):c.3975T>C (p.Gly1325=)
NM_000392.5(ABCC2):c.3987+16G>A
NM_000392.5(ABCC2):c.3987+19G>A
NM_000392.5(ABCC2):c.3987+1G>C
NM_000392.5(ABCC2):c.3988-15del
NM_000392.5(ABCC2):c.3988-4G>A
NM_000392.5(ABCC2):c.3988-4G>T
NM_000392.5(ABCC2):c.3988-9T>C
NM_000392.5(ABCC2):c.3996G>A (p.Val1332=)
NM_000392.5(ABCC2):c.4002C>T (p.Gly1334=)
NM_000392.5(ABCC2):c.400C>T (p.Leu134=) rs1564670755
NM_000392.5(ABCC2):c.4027C>T (p.Leu1343Phe)
NM_000392.5(ABCC2):c.402A>G (p.Leu134=)
NM_000392.5(ABCC2):c.4044C>T (p.Phe1348=)
NM_000392.5(ABCC2):c.4046G>C (p.Arg1349Thr) rs756482190
NM_000392.5(ABCC2):c.4047A>G (p.Arg1349=) rs1590192944
NM_000392.5(ABCC2):c.4059T>C (p.Ala1353=)
NM_000392.5(ABCC2):c.4079T>C (p.Ile1360Thr) rs780758213
NM_000392.5(ABCC2):c.407G>A (p.Trp136Ter)
NM_000392.5(ABCC2):c.4086A>T (p.Gly1362=)
NM_000392.5(ABCC2):c.4088T>C (p.Val1363Ala)
NM_000392.5(ABCC2):c.4103T>C (p.Ile1368Thr)
NM_000392.5(ABCC2):c.4104T>C (p.Ile1368=)
NM_000392.5(ABCC2):c.4108C>T (p.Leu1370Phe)
NM_000392.5(ABCC2):c.4120C>T (p.Arg1374Ter)
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)
NM_000392.5(ABCC2):c.4146+15T>A
NM_000392.5(ABCC2):c.4146+16T>C
NM_000392.5(ABCC2):c.4146+20C>A
NM_000392.5(ABCC2):c.4146+8C>T
NM_000392.5(ABCC2):c.4147-11T>A
NM_000392.5(ABCC2):c.4147-15T>C
NM_000392.5(ABCC2):c.4147-20C>G
NM_000392.5(ABCC2):c.4147-20C>T
NM_000392.5(ABCC2):c.4147-2A>G
NM_000392.5(ABCC2):c.4147-7C>T
NM_000392.5(ABCC2):c.4147-9C>A
NM_000392.5(ABCC2):c.4147-9C>T
NM_000392.5(ABCC2):c.4156C>T (p.Leu1386=)
NM_000392.5(ABCC2):c.4159T>C (p.Phe1387Leu) rs1564702291
NM_000392.5(ABCC2):c.4160T>C (p.Phe1387Ser) rs1554854589
NM_000392.5(ABCC2):c.4170C>T (p.Ser1390=)
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del) rs749662916
NM_000392.5(ABCC2):c.4176G>A (p.Arg1392=)
NM_000392.5(ABCC2):c.417G>A (p.Ser139=)
NM_000392.5(ABCC2):c.417G>T (p.Ser139=) rs145350474
NM_000392.5(ABCC2):c.4185C>T (p.Leu1395=)
NM_000392.5(ABCC2):c.4188C>T (p.Asp1396=)
NM_000392.5(ABCC2):c.4203C>A (p.Tyr1401Ter)
NM_000392.5(ABCC2):c.4203C>T (p.Tyr1401=)
NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs) rs762346634
NM_000392.5(ABCC2):c.4239_4240insTC (p.His1414fs) rs1554854612
NM_000392.5(ABCC2):c.4242C>T (p.His1414=)
NM_000392.5(ABCC2):c.4246A>T (p.Lys1416Ter) rs1564702358
NM_000392.5(ABCC2):c.4264C>T (p.Leu1422=)
NM_000392.5(ABCC2):c.4284C>T (p.His1428=)
NM_000392.5(ABCC2):c.4285G>T (p.Glu1429Ter)
NM_000392.5(ABCC2):c.4296G>A (p.Glu1432=)
NM_000392.5(ABCC2):c.4299T>C (p.Ala1433=)
NM_000392.5(ABCC2):c.4311G>A (p.Leu1437=)
NM_000392.5(ABCC2):c.4313+10C>A
NM_000392.5(ABCC2):c.4313+147C>G rs79183306
NM_000392.5(ABCC2):c.4313+16del
NM_000392.5(ABCC2):c.4313+20_4313+28del
NM_000392.5(ABCC2):c.4314-11A>G
NM_000392.5(ABCC2):c.4314-20G>T
NM_000392.5(ABCC2):c.4314-4G>C
NM_000392.5(ABCC2):c.4314-6C>T
NM_000392.5(ABCC2):c.4317A>G (p.Ile1439Met) rs924936790
NM_000392.5(ABCC2):c.4327C>T (p.Gln1443Ter)
NM_000392.5(ABCC2):c.4332G>T (p.Leu1444=)
NM_000392.5(ABCC2):c.4333del (p.Leu1445fs)
NM_000392.5(ABCC2):c.4335G>C (p.Leu1445=)
NM_000392.5(ABCC2):c.4350T>C (p.Ala1450=) rs1564703757
NM_000392.5(ABCC2):c.4365C>T (p.Ser1455=)
NM_000392.5(ABCC2):c.4372C>T (p.Leu1458=)
NM_000392.5(ABCC2):c.4384del (p.Glu1462fs)
NM_000392.5(ABCC2):c.438A>G (p.Gln146=)
NM_000392.5(ABCC2):c.4398G>C (p.Ala1466=)
NM_000392.5(ABCC2):c.4407A>G (p.Leu1469=)
NM_000392.5(ABCC2):c.4413A>C (p.Thr1471=)
NM_000392.5(ABCC2):c.4413del (p.Asp1472fs)
NM_000392.5(ABCC2):c.4438C>T (p.Gln1480Ter)
NM_000392.5(ABCC2):c.4439A>G (p.Gln1480Arg) rs1564703854
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=) rs756299268
NM_000392.5(ABCC2):c.4465_4473delinsGGCCCACAG (p.Ile1489_Ile1491delinsGlyProGln)
NM_000392.5(ABCC2):c.4466T>C (p.Ile1489Thr)
NM_000392.5(ABCC2):c.4467C>A (p.Ile1489=)
NM_000392.5(ABCC2):c.4473C>T (p.Ile1491=)
NM_000392.5(ABCC2):c.4476C>T (p.Ala1492=)
NM_000392.5(ABCC2):c.4482G>A (p.Arg1494=)
NM_000392.5(ABCC2):c.4485G>A (p.Leu1495=)
NM_000392.5(ABCC2):c.4494C>G (p.Ile1498Met) rs539252097
NM_000392.5(ABCC2):c.4508+11G>T
NM_000392.5(ABCC2):c.4509-10C>G
NM_000392.5(ABCC2):c.4509-12T>C
NM_000392.5(ABCC2):c.4509-14C>T
NM_000392.5(ABCC2):c.4509-9T>G
NM_000392.5(ABCC2):c.4512A>G (p.Val1504=)
NM_000392.5(ABCC2):c.4524C>T (p.Asp1508=)
NM_000392.5(ABCC2):c.4530G>A (p.Gly1510=)
NM_000392.5(ABCC2):c.4532dup (p.Ile1512fs)
NM_000392.5(ABCC2):c.4538T>C (p.Ile1513Thr) rs1564704176
NM_000392.5(ABCC2):c.4545C>T (p.Cys1515=)
NM_000392.5(ABCC2):c.4555G>A (p.Glu1519Lys) rs1564704207
NM_000392.5(ABCC2):c.4561del (p.Leu1521fs) rs1554854998
NM_000392.5(ABCC2):c.4566A>C (p.Leu1522=) rs773138110
NM_000392.5(ABCC2):c.4566A>G (p.Leu1522=)
NM_000392.5(ABCC2):c.4580C>T (p.Pro1527Leu) rs776473749
NM_000392.5(ABCC2):c.4581C>T (p.Pro1527=) rs1564704231
NM_000392.5(ABCC2):c.4587C>T (p.Tyr1529=)
NM_000392.5(ABCC2):c.4599G>A (p.Lys1533=)
NM_000392.5(ABCC2):c.459A>G (p.Thr153=)
NM_000392.5(ABCC2):c.4605T>C (p.Ala1535=)
NM_000392.5(ABCC2):c.4623C>T (p.Asn1541=)
NM_000392.5(ABCC2):c.4629A>G (p.Thr1543=)
NM_000392.5(ABCC2):c.462C>A (p.Leu154=)
NM_000392.5(ABCC2):c.466C>T (p.Gln156Ter)
NM_000392.5(ABCC2):c.468+12A>G
NM_000392.5(ABCC2):c.468+13del
NM_000392.5(ABCC2):c.468+19G>T
NM_000392.5(ABCC2):c.468+9A>G
NM_000392.5(ABCC2):c.469-13T>C
NM_000392.5(ABCC2):c.469-14T>C
NM_000392.5(ABCC2):c.469-16G>C
NM_000392.5(ABCC2):c.469-16G>T
NM_000392.5(ABCC2):c.469-18T>C
NM_000392.5(ABCC2):c.469-1G>A
NM_000392.5(ABCC2):c.469-1G>T
NM_000392.5(ABCC2):c.469-20C>G
NM_000392.5(ABCC2):c.469-2A>G
NM_000392.5(ABCC2):c.469-4A>G
NM_000392.5(ABCC2):c.469-5C>T
NM_000392.5(ABCC2):c.469-9del
NM_000392.5(ABCC2):c.476del (p.Asn159fs) rs769798659
NM_000392.5(ABCC2):c.480T>A (p.Ser160=)
NM_000392.5(ABCC2):c.484C>T (p.Leu162=)
NM_000392.5(ABCC2):c.486A>G (p.Leu162=)
NM_000392.5(ABCC2):c.489C>G (p.Ala163=)
NM_000392.5(ABCC2):c.492C>T (p.Tyr164=)
NM_000392.5(ABCC2):c.4C>T (p.Leu2=)
NM_000392.5(ABCC2):c.513del (p.Tyr172fs)
NM_000392.5(ABCC2):c.516C>T (p.Tyr172=)
NM_000392.5(ABCC2):c.519A>G (p.Gly173=)
NM_000392.5(ABCC2):c.524A>C (p.Gln175Pro)
NM_000392.5(ABCC2):c.537G>C (p.Leu179=)
NM_000392.5(ABCC2):c.546A>C (p.Ser182=)
NM_000392.5(ABCC2):c.546A>T (p.Ser182=)
NM_000392.5(ABCC2):c.569C>A (p.Ser190Ter)
NM_000392.5(ABCC2):c.576+155_576+157dup rs55868545
NM_000392.5(ABCC2):c.576+20C>T
NM_000392.5(ABCC2):c.576+8T>G
NM_000392.5(ABCC2):c.577-11G>C
NM_000392.5(ABCC2):c.577-12dup
NM_000392.5(ABCC2):c.577-20G>A
NM_000392.5(ABCC2):c.577-4T>G
NM_000392.5(ABCC2):c.577-8T>C
NM_000392.5(ABCC2):c.577-9G>A
NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer) rs2132976682
NM_000392.5(ABCC2):c.594T>C (p.Ala198=)
NM_000392.5(ABCC2):c.601C>T (p.Leu201=) rs749655460
NM_000392.5(ABCC2):c.615C>G (p.Thr205=)
NM_000392.5(ABCC2):c.618C>A (p.Tyr206Ter)
NM_000392.5(ABCC2):c.627T>A (p.Tyr209Ter)
NM_000392.5(ABCC2):c.627dup (p.Asp210Ter)
NM_000392.5(ABCC2):c.632+10C>T
NM_000392.5(ABCC2):c.632+2_632+5del
NM_000392.5(ABCC2):c.633-10C>G
NM_000392.5(ABCC2):c.633-13G>A
NM_000392.5(ABCC2):c.633-14C>T
NM_000392.5(ABCC2):c.633-18G>A
NM_000392.5(ABCC2):c.633-4C>G
NM_000392.5(ABCC2):c.633-8T>C
NM_000392.5(ABCC2):c.636C>A (p.Ile212=) rs1564673185
NM_000392.5(ABCC2):c.648C>G (p.Gly216=)
NM_000392.5(ABCC2):c.655C>G (p.Arg219Gly)
NM_000392.5(ABCC2):c.666A>G (p.Thr222=)
NM_000392.5(ABCC2):c.669C>T (p.Leu223=)
NM_000392.5(ABCC2):c.670G>A (p.Glu224Lys)
NM_000392.5(ABCC2):c.672G>A (p.Glu224=)
NM_000392.5(ABCC2):c.6G>A (p.Leu2=)
NM_000392.5(ABCC2):c.705C>T (p.Thr235=)
NM_000392.5(ABCC2):c.723G>A (p.Lys241=)
NM_000392.5(ABCC2):c.734A>G (p.His245Arg)
NM_000392.5(ABCC2):c.736A>T (p.Met246Leu) rs17222744
NM_000392.5(ABCC2):c.765G>A (p.Arg255=)
NM_000392.5(ABCC2):c.777A>G (p.Arg259=)
NM_000392.5(ABCC2):c.780G>A (p.Arg260=)
NM_000392.5(ABCC2):c.786G>A (p.Glu262=)
NM_000392.5(ABCC2):c.787A>T (p.Lys263Ter)
NM_000392.5(ABCC2):c.801G>A (p.Gln267=)
NM_000392.5(ABCC2):c.807T>A (p.Ser269=)
NM_000392.5(ABCC2):c.807_808delinsCT (p.Gly270Ter)
NM_000392.5(ABCC2):c.817C>T (p.Leu273=)
NM_000392.5(ABCC2):c.828G>A (p.Leu276=)
NM_000392.5(ABCC2):c.849C>T (p.Ser283=)
NM_000392.5(ABCC2):c.867+11C>T
NM_000392.5(ABCC2):c.867+17T>C
NM_000392.5(ABCC2):c.867+9C>A
NM_000392.5(ABCC2):c.868-15T>C
NM_000392.5(ABCC2):c.868-16T>C
NM_000392.5(ABCC2):c.868-19T>G
NM_000392.5(ABCC2):c.868-9dup
NM_000392.5(ABCC2):c.890del (p.Lys297fs)
NM_000392.5(ABCC2):c.890dup (p.Lys298fs)
NM_000392.5(ABCC2):c.900G>T (p.Gly300=)
NM_000392.5(ABCC2):c.903C>A (p.Thr301=)
NM_000392.5(ABCC2):c.909_921del (p.Lys303fs)
NM_000392.5(ABCC2):c.912T>C (p.Asp304=)
NM_000392.5(ABCC2):c.918A>C (p.Pro306=)
NM_000392.5(ABCC2):c.921dup (p.Ser308fs)
NM_000392.5(ABCC2):c.924C>G (p.Ser308=)
NM_000392.5(ABCC2):c.934A>T (p.Lys312Ter)
NM_000392.5(ABCC2):c.942G>C (p.Leu314=)
NM_000392.5(ABCC2):c.942G>T (p.Leu314=)
NM_000392.5(ABCC2):c.957C>T (p.Tyr319=)
NM_000392.5(ABCC2):c.966C>T (p.Leu322=)
NM_000392.5(ABCC2):c.969G>A (p.Leu323=)
NM_000392.5(ABCC2):c.969G>C (p.Leu323=)
NM_000392.5(ABCC2):c.984G>A (p.Leu328=)
NM_000392.5(ABCC2):c.999C>T (p.Asp333=)

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