ClinVar Miner

List of variants in gene SLC12A6 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1154
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.271+289A>G rs2615351 0.98937
NM_001365088.1(SLC12A6):c.1943+51G>A rs4371122 0.96544
NM_001365088.1(SLC12A6):c.544-129G>A rs2705350 0.88660
NM_001365088.1(SLC12A6):c.544-221_544-218dup rs10640651 0.88628
NM_001365088.1(SLC12A6):c.1118+115A>G rs2705344 0.79993
NM_001365088.1(SLC12A6):c.1118+98C>G rs2615358 0.77817
NM_001365088.1(SLC12A6):c.1333+181A>C rs2244040 0.61777
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=) rs4577050 0.60784
NM_001365088.1(SLC12A6):c.1492+45C>T rs10851964 0.60740
NM_001365088.1(SLC12A6):c.271+41G>C rs347836 0.46169
NM_001365088.1(SLC12A6):c.1118+290T>C rs4780236 0.30485
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=) rs7164902 0.22884
NM_001365088.1(SLC12A6):c.-72-214C>T rs73374493 0.16593
NM_001365088.1(SLC12A6):c.3043-75C>T rs17817800 0.16216
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_001365088.1(SLC12A6):c.2436+136G>A rs60604568 0.16149
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=) rs17236798 0.16144
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=) rs2290940 0.16143
NM_001365088.1(SLC12A6):c.1119-267T>A rs60165224 0.16137
NM_001365088.1(SLC12A6):c.2803-25T>C rs17817806 0.16133
NM_001365088.1(SLC12A6):c.1333+97C>A rs2290942 0.16128
NM_001365088.1(SLC12A6):c.-72-143A>T rs73374491 0.15623
NC_000015.10:g.34338196G>A rs6495661 0.15619
NM_001365088.1(SLC12A6):c.2935-261A>G rs16958875 0.15587
NM_001365088.1(SLC12A6):c.2162+323A>G rs10519916 0.10627
NM_001365088.1(SLC12A6):c.3228-198C>T rs111930900 0.10620
NM_001365088.1(SLC12A6):c.2043-301T>C rs16958878 0.10487
NM_001365088.1(SLC12A6):c.3043-188C>A rs73388027 0.10191
NM_001365088.1(SLC12A6):c.1825-13C>T rs74010036 0.10170
NM_001365088.1(SLC12A6):c.1591+102A>G rs61549125 0.09991
NM_001365088.1(SLC12A6):c.1591+93C>G rs56761496 0.09986
NM_001365088.1(SLC12A6):c.316+204A>G rs11638909 0.09708
NM_001365088.1(SLC12A6):c.1592-50A>G rs17236791 0.09549
NM_001365088.1(SLC12A6):c.2042+85G>A rs59209438 0.09524
NM_001365088.1(SLC12A6):c.1118+282T>G rs76027545 0.08574
NM_001365088.1(SLC12A6):c.316+75T>G rs347825 0.07550
NM_001365088.1(SLC12A6):c.2043-90A>C rs74676364 0.05664
NM_001365088.1(SLC12A6):c.1825-138G>T rs76107221 0.05646
NM_001365088.1(SLC12A6):c.2632+227C>T rs76270282 0.05608
NM_001365088.1(SLC12A6):c.411+135A>G rs78521190 0.04629
NM_001365088.1(SLC12A6):c.271+18034A>T rs28543997 0.04189
NM_001365088.1(SLC12A6):c.271+17261A>C rs114474942 0.03934
NM_001365088.1(SLC12A6):c.1944-26C>T rs34807905 0.03484
NM_001365088.1(SLC12A6):c.2042+32C>A rs79436830 0.02352
NM_001365088.1(SLC12A6):c.2934+12G>C rs11854257 0.02091
NM_001365088.1(SLC12A6):c.1649+38T>C rs117589457 0.01953
NM_001365088.1(SLC12A6):c.412-117G>A rs113047532 0.01909
NM_001365088.1(SLC12A6):c.1650-228C>T rs146779495 0.01759
NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=) rs35583475 0.01718
NM_001365088.1(SLC12A6):c.746-45T>A rs17817830 0.01677
NM_001365088.1(SLC12A6):c.411+236A>G rs76407713 0.01626
NM_001365088.1(SLC12A6):c.1944-260G>A rs16958881 0.01438
NM_001365088.1(SLC12A6):c.877-333T>C rs116966240 0.01360
NM_001365088.1(SLC12A6):c.1333+153C>G rs117050982 0.01349
NM_001365088.1(SLC12A6):c.746-252C>G rs148518785 0.01210
NM_001365088.1(SLC12A6):c.411+143A>G rs111302342 0.01207
NM_001365088.1(SLC12A6):c.544-240_544-239dup rs574774649 0.01205
NM_001365088.1(SLC12A6):c.544-97G>A rs56686766 0.01204
NM_001365088.1(SLC12A6):c.-73+135C>A rs147966325 0.01132
NM_001365088.1(SLC12A6):c.271+18050A>G rs80111581 0.01091
NM_001365088.1(SLC12A6):c.2803-39C>T rs74734994 0.01056
NM_001365088.1(SLC12A6):c.-73+250A>G rs141533243 0.00954
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=) rs34098566 0.00816
NM_001365088.1(SLC12A6):c.1333+265C>T rs114678059 0.00740
NM_001365088.1(SLC12A6):c.745+299A>G rs139210833 0.00740
NM_001365088.1(SLC12A6):c.746-227G>A rs77530232 0.00732
NM_001365088.1(SLC12A6):c.1649+104C>T rs76293115 0.00719
NM_001365088.1(SLC12A6):c.2803-210G>A rs80153148 0.00716
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_001365088.1(SLC12A6):c.2268-88C>T rs114137406 0.00639
NM_001365088.1(SLC12A6):c.1269C>T (p.Tyr423=) rs114911287 0.00588
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001365088.1(SLC12A6):c.1943+76A>G rs79287941 0.00572
NM_001365088.1(SLC12A6):c.2803-46T>C rs114895928 0.00572
NM_001365088.1(SLC12A6):c.3228-269G>T rs189038527 0.00562
NM_001365088.1(SLC12A6):c.3228-273del rs554651774 0.00560
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.3043-187G>A rs150396793 0.00471
NM_001365088.1(SLC12A6):c.2935-7A>G rs184053916 0.00465
NM_001365088.1(SLC12A6):c.271+17279A>G rs991681845 0.00402
NM_001365088.1(SLC12A6):c.3362-97A>G rs115102582 0.00347
NM_001365088.1(SLC12A6):c.3042+184T>G rs181185888 0.00346
NM_001365088.1(SLC12A6):c.271+17503C>A rs114815919 0.00333
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.2042+205C>T rs192991041 0.00208
NM_001365088.1(SLC12A6):c.3120C>T (p.Thr1040=) rs571120129 0.00105
NM_001365088.1(SLC12A6):c.1752A>C (p.Gly584=) rs186888172 0.00067
NM_001365088.1(SLC12A6):c.528A>G (p.Lys176=) rs150922818 0.00063
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001365088.1(SLC12A6):c.1649+20G>A rs201054191 0.00028
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365088.1(SLC12A6):c.1649+10G>A rs367828691 0.00021
NM_001365088.1(SLC12A6):c.1943+15T>C rs200544602 0.00020
NM_001365088.1(SLC12A6):c.745+9G>C rs369891876 0.00020
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp) rs370477960 0.00019
NM_001365088.1(SLC12A6):c.1944-19C>T rs199691611 0.00018
NM_001365088.1(SLC12A6):c.3043-18T>C rs181683351 0.00018
NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=) rs141035492 0.00017
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His) rs375887656 0.00016
NM_001365088.1(SLC12A6):c.543+8C>G rs372959539 0.00015
NM_001365088.1(SLC12A6):c.2934+3G>A rs747032924 0.00014
NM_001365088.1(SLC12A6):c.1374C>T (p.Ile458=) rs372710448 0.00012
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn) rs781088641 0.00011
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001365088.1(SLC12A6):c.23C>T (p.Thr8Ile) rs532035592 0.00010
NM_001365088.1(SLC12A6):c.293C>A (p.Thr98Lys) rs143956604 0.00010
NM_001365088.1(SLC12A6):c.3061C>A (p.Arg1021=) rs752558011 0.00010
NM_001365088.1(SLC12A6):c.1047C>T (p.Ala349=) rs369619875 0.00009
NM_001365088.1(SLC12A6):c.1119-16A>G rs746578686 0.00009
NM_001365088.1(SLC12A6):c.543+18C>T rs369228093 0.00009
NM_001365088.1(SLC12A6):c.3043-3C>G rs368682142 0.00008
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.2803-3C>G rs369901701 0.00007
NM_001365088.1(SLC12A6):c.321C>T (p.Asp107=) rs141909782 0.00007
NM_001365088.1(SLC12A6):c.1369A>T (p.Ile457Phe) rs751420584 0.00006
NM_001365088.1(SLC12A6):c.1493-10A>G rs377182155 0.00006
NM_001365088.1(SLC12A6):c.1663G>A (p.Val555Met) rs140635276 0.00006
NM_001365088.1(SLC12A6):c.1778G>A (p.Arg593Lys) rs779664776 0.00006
NM_001365088.1(SLC12A6):c.2802+8A>G rs377455864 0.00006
NM_001365088.1(SLC12A6):c.3075A>C (p.Leu1025=) rs758095344 0.00006
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln) rs371696267 0.00006
NM_001365088.1(SLC12A6):c.381A>G (p.Glu127=) rs567323663 0.00006
NM_001365088.1(SLC12A6):c.918C>T (p.Asp306=) rs201041861 0.00006
NM_001365088.1(SLC12A6):c.176C>G (p.Pro59Arg) rs777459849 0.00005
NM_001365088.1(SLC12A6):c.3375A>C (p.Leu1125=) rs556517856 0.00005
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001365088.1(SLC12A6):c.1484C>G (p.Ser495Cys) rs373077646 0.00004
NM_001365088.1(SLC12A6):c.148A>C (p.Ser50Arg) rs746317063 0.00004
NM_001365088.1(SLC12A6):c.171T>C (p.Ser57=) rs778347736 0.00004
NM_001365088.1(SLC12A6):c.2412C>T (p.Tyr804=) rs773206972 0.00004
NM_001365088.1(SLC12A6):c.2436+12G>A rs1438370775 0.00004
NM_001365088.1(SLC12A6):c.3228-15T>C rs376575991 0.00004
NM_001365088.1(SLC12A6):c.47T>C (p.Met16Thr) rs746665611 0.00004
NM_001365088.1(SLC12A6):c.540C>A (p.Thr180=) rs771922240 0.00004
NM_001365088.1(SLC12A6):c.747T>C (p.Ala249=) rs140318542 0.00004
NM_001365088.1(SLC12A6):c.877-20C>T rs1005140981 0.00004
NM_001365088.1(SLC12A6):c.885C>T (p.Ile295=) rs146726039 0.00004
NM_001365088.1(SLC12A6):c.924C>G (p.Leu308=) rs372465430 0.00004
NM_001365088.1(SLC12A6):c.958G>A (p.Val320Ile) rs752427635 0.00004
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=) rs35855196 0.00003
NM_001365088.1(SLC12A6):c.1083A>C (p.Gly361=) rs754403127 0.00003
NM_001365088.1(SLC12A6):c.1242A>G (p.Gln414=) rs1464322097 0.00003
NM_001365088.1(SLC12A6):c.1375G>A (p.Glu459Lys) rs772725042 0.00003
NM_001365088.1(SLC12A6):c.1659T>C (p.Asp553=) rs750940125 0.00003
NM_001365088.1(SLC12A6):c.2003G>A (p.Arg668Gln) rs779359867 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.2310T>C (p.His770=) rs1221781009 0.00003
NM_001365088.1(SLC12A6):c.2388C>T (p.Ile796=) rs771038983 0.00003
NM_001365088.1(SLC12A6):c.2436+7G>A rs781098444 0.00003
NM_001365088.1(SLC12A6):c.2919A>G (p.Val973=) rs375530627 0.00003
NM_001365088.1(SLC12A6):c.3306G>A (p.Lys1102=) rs776625055 0.00003
NM_001365088.1(SLC12A6):c.455G>A (p.Arg152His) rs200361670 0.00003
NM_001365088.1(SLC12A6):c.1215A>G (p.Leu405=) rs763741256 0.00002
NM_001365088.1(SLC12A6):c.168G>A (p.Arg56=) rs886051056 0.00002
NM_001365088.1(SLC12A6):c.1797C>A (p.Ala599=) rs144810445 0.00002
NM_001365088.1(SLC12A6):c.1825-16T>C rs763005505 0.00002
NM_001365088.1(SLC12A6):c.1998A>G (p.Leu666=) rs761707485 0.00002
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter) rs751184319 0.00002
NM_001365088.1(SLC12A6):c.2268-9T>C rs939060732 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.2633-8C>G rs374091513 0.00002
NM_001365088.1(SLC12A6):c.2859T>C (p.Ser953=) rs776132941 0.00002
NM_001365088.1(SLC12A6):c.2935-11G>C rs770370694 0.00002
NM_001365088.1(SLC12A6):c.294A>G (p.Thr98=) rs1894230939 0.00002
NM_001365088.1(SLC12A6):c.3405C>G (p.Val1135=) rs1438411438 0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=) rs774081365 0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=) rs753466496 0.00002
NM_001365088.1(SLC12A6):c.87A>G (p.Ser29=) rs1473916818 0.00002
NM_001365088.1(SLC12A6):c.955C>T (p.Arg319Cys) rs755778625 0.00002
NM_001365088.1(SLC12A6):c.981C>T (p.Val327=) rs764468374 0.00002
NM_001365088.1(SLC12A6):c.*17G>A rs764086996 0.00001
NM_001365088.1(SLC12A6):c.1013G>A (p.Arg338His) rs769714833 0.00001
NM_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=) rs373193470 0.00001
NM_001365088.1(SLC12A6):c.102C>T (p.Asp34=) rs376341003 0.00001
NM_001365088.1(SLC12A6):c.1035A>G (p.Ser345=) rs1247581789 0.00001
NM_001365088.1(SLC12A6):c.1036C>G (p.Leu346Val) rs1374588070 0.00001
NM_001365088.1(SLC12A6):c.1056T>C (p.Ile352=) rs1209817415 0.00001
NM_001365088.1(SLC12A6):c.1065C>G (p.Ile355Met) rs1229903219 0.00001
NM_001365088.1(SLC12A6):c.1066T>C (p.Leu356=) rs1892604470 0.00001
NM_001365088.1(SLC12A6):c.1098T>G (p.Ser366=) rs144474258 0.00001
NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu) rs774246639 0.00001
NM_001365088.1(SLC12A6):c.1118+15C>G rs375879691 0.00001
NM_001365088.1(SLC12A6):c.1118+4C>T rs773294017 0.00001
NM_001365088.1(SLC12A6):c.1161T>C (p.Ile387=) rs973802436 0.00001
NM_001365088.1(SLC12A6):c.1194C>T (p.Asn398=) rs1015089224 0.00001
NM_001365088.1(SLC12A6):c.123C>T (p.Ser41=) rs769435177 0.00001
NM_001365088.1(SLC12A6):c.1260T>C (p.Cys420=) rs1226622652 0.00001
NM_001365088.1(SLC12A6):c.1334-10C>T rs757623381 0.00001
NM_001365088.1(SLC12A6):c.1334-6C>T rs777766923 0.00001
NM_001365088.1(SLC12A6):c.1347T>C (p.Ser449=) rs1595432063 0.00001
NM_001365088.1(SLC12A6):c.1354C>T (p.Leu452=) rs756029842 0.00001
NM_001365088.1(SLC12A6):c.1410C>T (p.Gly470=) rs772765619 0.00001
NM_001365088.1(SLC12A6):c.1457C>T (p.Thr486Met) rs748315324 0.00001
NM_001365088.1(SLC12A6):c.1493-15C>G rs773292131 0.00001
NM_001365088.1(SLC12A6):c.1536T>G (p.Ala512=) rs746976148 0.00001
NM_001365088.1(SLC12A6):c.1592-7A>G rs759969112 0.00001
NM_001365088.1(SLC12A6):c.1602T>C (p.Asn534=) rs1252788801 0.00001
NM_001365088.1(SLC12A6):c.1614T>G (p.Phe538Leu) rs1057520062 0.00001
NM_001365088.1(SLC12A6):c.1620A>G (p.Ala540=) rs556482302 0.00001
NM_001365088.1(SLC12A6):c.1649+17T>C rs973548373 0.00001
NM_001365088.1(SLC12A6):c.1653C>T (p.Phe551=) rs780775015 0.00001
NM_001365088.1(SLC12A6):c.1671T>A (p.Gly557=) rs757602343 0.00001
NM_001365088.1(SLC12A6):c.1688C>T (p.Thr563Ile) rs970501910 0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.1764C>T (p.Leu588=) rs1190345904 0.00001
NM_001365088.1(SLC12A6):c.1776G>A (p.Pro592=) rs1243429643 0.00001
NM_001365088.1(SLC12A6):c.1821G>A (p.Leu607=) rs779385122 0.00001
NM_001365088.1(SLC12A6):c.1825-6G>T rs372220263 0.00001
NM_001365088.1(SLC12A6):c.1825-8G>A rs1045667799 0.00001
NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala) rs747694318 0.00001
NM_001365088.1(SLC12A6):c.186G>A (p.Glu62=) rs530537247 0.00001
NM_001365088.1(SLC12A6):c.1917G>C (p.Leu639=) rs373010679 0.00001
NM_001365088.1(SLC12A6):c.1933A>G (p.Ile645Val) rs572342330 0.00001
NM_001365088.1(SLC12A6):c.1986C>T (p.Ala662=) rs185395429 0.00001
NM_001365088.1(SLC12A6):c.2042+12T>G rs1297919591 0.00001
NM_001365088.1(SLC12A6):c.2042G>C (p.Trp681Ser) rs1891819836 0.00001
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.206C>G (p.Ser69Trp) rs1018860694 0.00001
NM_001365088.1(SLC12A6):c.2082G>A (p.Leu694=) rs773869392 0.00001
NM_001365088.1(SLC12A6):c.208C>T (p.Leu70=) rs1890204303 0.00001
NM_001365088.1(SLC12A6):c.2109C>T (p.Ala703=) rs928370333 0.00001
NM_001365088.1(SLC12A6):c.210G>C (p.Leu70=) rs752989967 0.00001
NM_001365088.1(SLC12A6):c.2163-8T>C rs777568676 0.00001
NM_001365088.1(SLC12A6):c.2202C>G (p.Ser734=) rs1026169749 0.00001
NM_001365088.1(SLC12A6):c.2316G>A (p.Lys772=) rs145060136 0.00001
NM_001365088.1(SLC12A6):c.2323C>T (p.Arg775Cys) rs753271582 0.00001
NM_001365088.1(SLC12A6):c.2382T>C (p.Ser794=) rs188796935 0.00001
NM_001365088.1(SLC12A6):c.240C>T (p.Asp80=) rs201684992 0.00001
NM_001365088.1(SLC12A6):c.2667A>G (p.Ala889=) rs774250539 0.00001
NM_001365088.1(SLC12A6):c.271+15A>T rs200723560 0.00001
NM_001365088.1(SLC12A6):c.2732T>C (p.Ile911Thr) rs772527464 0.00001
NM_001365088.1(SLC12A6):c.2736T>C (p.Asp912=) rs761418960 0.00001
NM_001365088.1(SLC12A6):c.2748T>C (p.Ile916=) rs1174264653 0.00001
NM_001365088.1(SLC12A6):c.2763G>A (p.Gly921=) rs140435105 0.00001
NM_001365088.1(SLC12A6):c.2787A>G (p.Leu929=) rs778025984 0.00001
NM_001365088.1(SLC12A6):c.2790G>A (p.Leu930=) rs756341232 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.2829C>T (p.Ile943=) rs750191666 0.00001
NM_001365088.1(SLC12A6):c.2844A>G (p.Gln948=) rs761469559 0.00001
NM_001365088.1(SLC12A6):c.2913G>A (p.Ala971=) rs749794771 0.00001
NM_001365088.1(SLC12A6):c.2961T>G (p.Thr987=) rs747237563 0.00001
NM_001365088.1(SLC12A6):c.3018A>G (p.Leu1006=) rs1169854385 0.00001
NM_001365088.1(SLC12A6):c.3030G>A (p.Glu1010=) rs1358613486 0.00001
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) rs121908427 0.00001
NM_001365088.1(SLC12A6):c.3048A>G (p.Gln1016=) rs755892310 0.00001
NM_001365088.1(SLC12A6):c.3105C>T (p.Asp1035=) rs754381718 0.00001
NM_001365088.1(SLC12A6):c.3108A>G (p.Glu1036=) rs761088724 0.00001
NM_001365088.1(SLC12A6):c.3109G>A (p.Glu1037Lys) rs775973016 0.00001
NM_001365088.1(SLC12A6):c.317-5T>C rs1387731892 0.00001
NM_001365088.1(SLC12A6):c.3186G>A (p.Ala1062=) rs1300448363 0.00001
NM_001365088.1(SLC12A6):c.3240T>C (p.Asn1080=) rs751913210 0.00001
NM_001365088.1(SLC12A6):c.326A>G (p.His109Arg) rs764672829 0.00001
NM_001365088.1(SLC12A6):c.3273C>T (p.Asn1091=) rs773205027 0.00001
NM_001365088.1(SLC12A6):c.3354T>C (p.Asp1118=) rs771810437 0.00001
NM_001365088.1(SLC12A6):c.3387C>G (p.Thr1129=) rs777174639 0.00001
NM_001365088.1(SLC12A6):c.3387C>T (p.Thr1129=) rs777174639 0.00001
NM_001365088.1(SLC12A6):c.3399G>A (p.Glu1133=) rs747524478 0.00001
NM_001365088.1(SLC12A6):c.3402A>G (p.Arg1134=) rs750825269 0.00001
NM_001365088.1(SLC12A6):c.3406C>T (p.Leu1136=) rs1007139874 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile) rs759559343 0.00001
NM_001365088.1(SLC12A6):c.432G>A (p.Pro144=) rs778236319 0.00001
NM_001365088.1(SLC12A6):c.483A>T (p.Gln161His) rs1316809325 0.00001
NM_001365088.1(SLC12A6):c.501A>G (p.Glu167=) rs149158862 0.00001
NM_001365088.1(SLC12A6):c.543+10C>T rs1398917794 0.00001
NM_001365088.1(SLC12A6):c.546C>T (p.Thr182=) rs775527538 0.00001
NM_001365088.1(SLC12A6):c.57G>A (p.Pro19=) rs779094623 0.00001
NM_001365088.1(SLC12A6):c.720C>G (p.Ala240=) rs1486298393 0.00001
NM_001365088.1(SLC12A6):c.727A>T (p.Thr243Ser) rs1410645913 0.00001
NM_001365088.1(SLC12A6):c.72C>T (p.Asp24=) rs754046437 0.00001
NM_001365088.1(SLC12A6):c.73A>G (p.Ile25Val) rs1370247909 0.00001
NM_001365088.1(SLC12A6):c.746-20C>T rs770035421 0.00001
NM_001365088.1(SLC12A6):c.753C>T (p.Gly251=) rs779949209 0.00001
NM_001365088.1(SLC12A6):c.78A>G (p.Pro26=) rs756460966 0.00001
NM_001365088.1(SLC12A6):c.852C>T (p.Ile284=) rs1467033571 0.00001
NM_001365088.1(SLC12A6):c.877G>T (p.Val293Phe) rs1466259736 0.00001
NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter) rs897661402 0.00001
NM_001365088.1(SLC12A6):c.897T>C (p.Ala299=) rs933923298 0.00001
NM_001365088.1(SLC12A6):c.940A>T (p.Met314Leu) rs34491959 0.00001
NM_001365088.1(SLC12A6):c.945A>C (p.Leu315=) rs1204457802 0.00001
NM_001365088.1(SLC12A6):c.953T>C (p.Met318Thr) rs777759928 0.00001
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser) rs75235010 0.00001
NM_001365088.1(SLC12A6):c.97C>G (p.Pro33Ala) rs767685808 0.00001
NM_001365088.1(SLC12A6):c.990A>G (p.Val330=) rs772084561 0.00001
NM_001365088.1(SLC12A6):c.99G>A (p.Pro33=) rs1313511406 0.00001
NC_000015.9:g.(?_34526072)_(34631468_?)del
NC_000015.9:g.(?_34526082)_(34527535_?)dup
NC_000015.9:g.(?_34626043)_(34628739_?)del
NC_000015.9:g.(?_34628591)_(34628881_?)del
NM_001365088.1(SLC12A6):c.1002T>C (p.Phe334=)
NM_001365088.1(SLC12A6):c.1002dup (p.Ile335fs)
NM_001365088.1(SLC12A6):c.1006G>A (p.Gly336Ser) rs200994998
NM_001365088.1(SLC12A6):c.1007del (p.Gly336fs)
NM_001365088.1(SLC12A6):c.1009G>A (p.Val337Ile)
NM_001365088.1(SLC12A6):c.1011A>G (p.Val337=)
NM_001365088.1(SLC12A6):c.1020G>A (p.Val340=)
NM_001365088.1(SLC12A6):c.1023C>T (p.Asn341=) rs2140718782
NM_001365088.1(SLC12A6):c.1024A>G (p.Lys342Glu)
NM_001365088.1(SLC12A6):c.1025A>G (p.Lys342Arg)
NM_001365088.1(SLC12A6):c.1026G>A (p.Lys342=)
NM_001365088.1(SLC12A6):c.1032C>G (p.Ala344=)
NM_001365088.1(SLC12A6):c.1035A>C (p.Ser345=)
NM_001365088.1(SLC12A6):c.103C>T (p.Leu35Phe) rs1454226326
NM_001365088.1(SLC12A6):c.1043T>C (p.Leu348Pro)
NM_001365088.1(SLC12A6):c.1050T>C (p.Cys350=)
NM_001365088.1(SLC12A6):c.105C>T (p.Leu35=) rs766024839
NM_001365088.1(SLC12A6):c.1062C>T (p.Ser354=) rs1263198509
NM_001365088.1(SLC12A6):c.1068G>A (p.Leu356=)
NM_001365088.1(SLC12A6):c.1069G>A (p.Ala357Thr)
NM_001365088.1(SLC12A6):c.1071C>T (p.Ala357=) rs2140718177
NM_001365088.1(SLC12A6):c.1076A>G (p.Tyr359Cys)
NM_001365088.1(SLC12A6):c.107G>A (p.Ser36Asn) rs2141212975
NM_001365088.1(SLC12A6):c.1080T>C (p.Ala360=)
NM_001365088.1(SLC12A6):c.1086C>T (p.Ala362=)
NM_001365088.1(SLC12A6):c.1091A>C (p.Lys364Thr) rs200485502
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1095T>G (p.Ser365=)
NM_001365088.1(SLC12A6):c.1100T>C (p.Phe367Ser) rs2140717533
NM_001365088.1(SLC12A6):c.1101T>G (p.Phe367Leu)
NM_001365088.1(SLC12A6):c.1107T>G (p.Pro369=) rs2140717438
NM_001365088.1(SLC12A6):c.1109C>A (p.Pro370Gln)
NM_001365088.1(SLC12A6):c.1113C>T (p.His371=) rs1595438667
NM_001365088.1(SLC12A6):c.1116C>A (p.Phe372Leu)
NM_001365088.1(SLC12A6):c.1118+13C>G
NM_001365088.1(SLC12A6):c.1118+13CT[2]
NM_001365088.1(SLC12A6):c.1118+19G>A
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1118+4C>A
NM_001365088.1(SLC12A6):c.1118C>G (p.Pro373Arg)
NM_001365088.1(SLC12A6):c.1118C>T (p.Pro373Leu)
NM_001365088.1(SLC12A6):c.1119-13T>C
NM_001365088.1(SLC12A6):c.1119-5C>T rs1892453446
NM_001365088.1(SLC12A6):c.1120G>T (p.Val374Phe)
NM_001365088.1(SLC12A6):c.1128G>T (p.Met376Ile) rs2140737459
NM_001365088.1(SLC12A6):c.112C>T (p.Arg38Ter)
NM_001365088.1(SLC12A6):c.1138C>T (p.Arg380Cys)
NM_001365088.1(SLC12A6):c.113G>A (p.Arg38Gln)
NM_001365088.1(SLC12A6):c.1143C>T (p.Thr381=) rs2140737332
NM_001365088.1(SLC12A6):c.1147TCA[1] (p.Ser384del) rs1892450807
NM_001365088.1(SLC12A6):c.1149A>C (p.Ser383=)
NM_001365088.1(SLC12A6):c.114A>G (p.Arg38=)
NM_001365088.1(SLC12A6):c.114A>T (p.Arg38=)
NM_001365088.1(SLC12A6):c.1159A>G (p.Ile387Val) rs781345440
NM_001365088.1(SLC12A6):c.1165G>A (p.Val389Ile)
NM_001365088.1(SLC12A6):c.1172C>G (p.Ser391Cys)
NM_001365088.1(SLC12A6):c.1179C>G (p.Thr393=) rs2140737059
NM_001365088.1(SLC12A6):c.1182G>A (p.Lys394=) rs2140737041
NM_001365088.1(SLC12A6):c.1191C>T (p.Asn397=) rs1892447878
NM_001365088.1(SLC12A6):c.1217_1218delinsTC (p.Trp406Phe)
NM_001365088.1(SLC12A6):c.1219G>A (p.Gly407Arg) rs745569165
NM_001365088.1(SLC12A6):c.1220G>T (p.Gly407Val)
NM_001365088.1(SLC12A6):c.1227C>A (p.Phe409Leu)
NM_001365088.1(SLC12A6):c.1231A>T (p.Asn411Tyr)
NM_001365088.1(SLC12A6):c.1235C>T (p.Ser412Leu)
NM_001365088.1(SLC12A6):c.1236G>C (p.Ser412=) rs2290940
NM_001365088.1(SLC12A6):c.1238G>A (p.Ser413Asn)
NM_001365088.1(SLC12A6):c.124C>G (p.Arg42Gly)
NM_001365088.1(SLC12A6):c.1254C>T (p.Ala418=) rs1322214086
NM_001365088.1(SLC12A6):c.1257C>A (p.Thr419=)
NM_001365088.1(SLC12A6):c.1257C>T (p.Thr419=) rs531050206
NM_001365088.1(SLC12A6):c.1263T>C (p.Asp421=)
NM_001365088.1(SLC12A6):c.1266A>G (p.Glu422=)
NM_001365088.1(SLC12A6):c.1272T>C (p.Phe424=) rs551833920
NM_001365088.1(SLC12A6):c.1274T>A (p.Val425Asp)
NM_001365088.1(SLC12A6):c.1292C>T (p.Ser431Leu)
NM_001365088.1(SLC12A6):c.129A>G (p.Val43=)
NM_001365088.1(SLC12A6):c.12A>G (p.Pro4=) rs2141213727
NM_001365088.1(SLC12A6):c.1301G>C (p.Gly434Ala) rs2140735892
NM_001365088.1(SLC12A6):c.1302C>G (p.Gly434=)
NM_001365088.1(SLC12A6):c.1318A>G (p.Ser440Gly) rs1892438412
NM_001365088.1(SLC12A6):c.1319G>C (p.Ser440Thr) rs1448474208
NM_001365088.1(SLC12A6):c.1322G>A (p.Gly441Asp) rs1192661841
NM_001365088.1(SLC12A6):c.1322G>T (p.Gly441Val) rs1192661841
NM_001365088.1(SLC12A6):c.1324A>G (p.Ile442Val)
NM_001365088.1(SLC12A6):c.1333+10G>T
NM_001365088.1(SLC12A6):c.1333+13G>A
NM_001365088.1(SLC12A6):c.1333+19G>A
NM_001365088.1(SLC12A6):c.1333+19G>C
NM_001365088.1(SLC12A6):c.1334-16A>G
NM_001365088.1(SLC12A6):c.1334-17C>T rs1252667355
NM_001365088.1(SLC12A6):c.1334-1G>C
NM_001365088.1(SLC12A6):c.1334-41dup rs11382535
NM_001365088.1(SLC12A6):c.1334-4G>T rs2140729257
NM_001365088.1(SLC12A6):c.1334-5T>C
NM_001365088.1(SLC12A6):c.1334-5T>G
NM_001365088.1(SLC12A6):c.1334-7A>G
NM_001365088.1(SLC12A6):c.1334-9C>T
NM_001365088.1(SLC12A6):c.1341T>C (p.Leu447=)
NM_001365088.1(SLC12A6):c.1371C>A (p.Ile457=) rs1892351831
NM_001365088.1(SLC12A6):c.1373T>C (p.Ile458Thr)
NM_001365088.1(SLC12A6):c.1377A>G (p.Glu459=)
NM_001365088.1(SLC12A6):c.137G>A (p.Ser46Asn)
NM_001365088.1(SLC12A6):c.1381C>G (p.Pro461Ala) rs1892350716
NM_001365088.1(SLC12A6):c.1389C>T (p.Ala463=) rs769215658
NM_001365088.1(SLC12A6):c.1408G>C (p.Gly470Arg) rs2140728706
NM_001365088.1(SLC12A6):c.1411A>C (p.Ser471Arg)
NM_001365088.1(SLC12A6):c.1423G>A (p.Glu475Lys)
NM_001365088.1(SLC12A6):c.142C>A (p.Arg48=) rs1306630198
NM_001365088.1(SLC12A6):c.1440C>T (p.Asp480=)
NM_001365088.1(SLC12A6):c.1446C>T (p.Thr482=) rs2140728339
NM_001365088.1(SLC12A6):c.1449C>T (p.Thr483=)
NM_001365088.1(SLC12A6):c.1458G>A (p.Thr486=) rs781102586
NM_001365088.1(SLC12A6):c.1459C>A (p.Leu487Ile)
NM_001365088.1(SLC12A6):c.1461T>G (p.Leu487=) rs2140728168
NM_001365088.1(SLC12A6):c.1465G>A (p.Val489Met)
NM_001365088.1(SLC12A6):c.1467G>T (p.Val489=) rs914084301
NM_001365088.1(SLC12A6):c.1492+10T>C
NM_001365088.1(SLC12A6):c.1492+13G>A
NM_001365088.1(SLC12A6):c.1492+13del
NM_001365088.1(SLC12A6):c.1492+19G>A
NM_001365088.1(SLC12A6):c.1492+1G>T
NM_001365088.1(SLC12A6):c.1492+7A>G
NM_001365088.1(SLC12A6):c.1492+8C>T rs1892341722
NM_001365088.1(SLC12A6):c.1492+8del rs2140728011
NM_001365088.1(SLC12A6):c.1492+9A>C rs1566811997
NM_001365088.1(SLC12A6):c.1493-13del rs748657003
NM_001365088.1(SLC12A6):c.1493-13dup
NM_001365088.1(SLC12A6):c.1493-14C>G
NM_001365088.1(SLC12A6):c.1493-14C>T
NM_001365088.1(SLC12A6):c.1493-15C>T
NM_001365088.1(SLC12A6):c.1493-18T>C
NM_001365088.1(SLC12A6):c.1493-18del
NM_001365088.1(SLC12A6):c.1493-18dup rs532293212
NM_001365088.1(SLC12A6):c.1493-1G>A
NM_001365088.1(SLC12A6):c.1493-4A>G rs2140726903
NM_001365088.1(SLC12A6):c.1493-6C>G
NM_001365088.1(SLC12A6):c.1493-6C>T
NM_001365088.1(SLC12A6):c.1493-72A>G rs141939614
NM_001365088.1(SLC12A6):c.1494T>C (p.Gly498=)
NM_001365088.1(SLC12A6):c.1497C>T (p.Ile499=) rs1595431189
NM_001365088.1(SLC12A6):c.14A>G (p.Glu5Gly) rs770783522
NM_001365088.1(SLC12A6):c.1503T>C (p.Ala501=)
NM_001365088.1(SLC12A6):c.1506A>T (p.Gly502=) rs2140726804
NM_001365088.1(SLC12A6):c.150C>T (p.Ser50=)
NM_001365088.1(SLC12A6):c.1512C>T (p.Asn504=)
NM_001365088.1(SLC12A6):c.1517C>G (p.Ser506Cys) rs2140726785
NM_001365088.1(SLC12A6):c.1518T>G (p.Ser506=) rs2140726765
NM_001365088.1(SLC12A6):c.1525C>A (p.Leu509Met)
NM_001365088.1(SLC12A6):c.1527G>C (p.Leu509=)
NM_001365088.1(SLC12A6):c.1540A>T (p.Lys514Ter)
NM_001365088.1(SLC12A6):c.1549C>A (p.Pro517Thr)
NM_001365088.1(SLC12A6):c.1550C>T (p.Pro517Leu)
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.1551G>T (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.1557T>C (p.Gly519=)
NM_001365088.1(SLC12A6):c.1566T>C (p.Leu522=) rs373257974
NM_001365088.1(SLC12A6):c.1569C>T (p.Ala523=) rs2140726397
NM_001365088.1(SLC12A6):c.1572C>T (p.Ile524=) rs2140726382
NM_001365088.1(SLC12A6):c.1573C>T (p.Leu525=)
NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup) rs1342378279
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala) rs1555379629
NM_001365088.1(SLC12A6):c.1577C>T (p.Thr526Ile)
NM_001365088.1(SLC12A6):c.157G>C (p.Glu53Gln) rs2141212637
NM_001365088.1(SLC12A6):c.1581C>T (p.Thr527=)
NM_001365088.1(SLC12A6):c.1591+12A>G
NM_001365088.1(SLC12A6):c.1591+15G>C rs2140726195
NM_001365088.1(SLC12A6):c.1591+20A>G
NM_001365088.1(SLC12A6):c.1591+2T>A
NM_001365088.1(SLC12A6):c.1592-11C>A
NM_001365088.1(SLC12A6):c.1592-12_1592-11del rs773962735
NM_001365088.1(SLC12A6):c.1592-13C>T
NM_001365088.1(SLC12A6):c.1592-14T>A
NM_001365088.1(SLC12A6):c.1592-14T>C
NM_001365088.1(SLC12A6):c.1592-17G>T
NM_001365088.1(SLC12A6):c.1592-20C>T
NM_001365088.1(SLC12A6):c.1592-5G>C rs1892302691
NM_001365088.1(SLC12A6):c.1592-6T>C
NM_001365088.1(SLC12A6):c.1592-7A>T
NM_001365088.1(SLC12A6):c.1592-8T>C
NM_001365088.1(SLC12A6):c.1596A>G (p.Leu532=)
NM_001365088.1(SLC12A6):c.1598G>A (p.Ser533Asn)
NM_001365088.1(SLC12A6):c.1614del (p.Phe538fs) rs1481540503
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp) rs1595430425
NM_001365088.1(SLC12A6):c.161C>G (p.Thr54Arg)
NM_001365088.1(SLC12A6):c.1620_1621del (p.Cys541fs) rs2140724680
NM_001365088.1(SLC12A6):c.1625T>C (p.Ile542Thr) rs958786620
NM_001365088.1(SLC12A6):c.1626T>C (p.Ile542=)
NM_001365088.1(SLC12A6):c.162A>G (p.Thr54=)
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.1639del (p.Leu547fs) rs2140724562
NM_001365088.1(SLC12A6):c.1642A>C (p.Arg548=)
NM_001365088.1(SLC12A6):c.1648A>G (p.Lys550Glu)
NM_001365088.1(SLC12A6):c.1649+10G>T
NM_001365088.1(SLC12A6):c.1649+12A>G
NM_001365088.1(SLC12A6):c.1649+16C>A
NM_001365088.1(SLC12A6):c.1649+20G>C
NM_001365088.1(SLC12A6):c.1649+2T>A
NM_001365088.1(SLC12A6):c.1650-15C>T
NM_001365088.1(SLC12A6):c.1650-1G>T
NM_001365088.1(SLC12A6):c.1650-20C>G
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001365088.1(SLC12A6):c.1650-83dup rs200823199
NM_001365088.1(SLC12A6):c.1650-9C>T rs1486840290
NM_001365088.1(SLC12A6):c.1655G>A (p.Gly552Asp) rs2140693876
NM_001365088.1(SLC12A6):c.1665G>C (p.Val555=) rs2140693755
NM_001365088.1(SLC12A6):c.1669G>C (p.Gly557Arg) rs2140693680
NM_001365088.1(SLC12A6):c.166C>G (p.Arg56Gly)
NM_001365088.1(SLC12A6):c.1680G>A (p.Val560=)
NM_001365088.1(SLC12A6):c.1682T>C (p.Val561Ala)
NM_001365088.1(SLC12A6):c.1689C>T (p.Thr563=) rs1595419734
NM_001365088.1(SLC12A6):c.1690T>C (p.Leu564=)
NM_001365088.1(SLC12A6):c.1721T>C (p.Ile574Thr)
NM_001365088.1(SLC12A6):c.1726T>G (p.Ser576Ala)
NM_001365088.1(SLC12A6):c.1727C>T (p.Ser576Phe) rs1244030823
NM_001365088.1(SLC12A6):c.1728CTT[1] (p.Phe578del)
NM_001365088.1(SLC12A6):c.1740A>G (p.Thr580=) rs1566807647
NM_001365088.1(SLC12A6):c.1743T>C (p.Cys581=)
NM_001365088.1(SLC12A6):c.1746G>A (p.Gly582=) rs2140693160
NM_001365088.1(SLC12A6):c.1746G>C (p.Gly582=) rs2140693160
NM_001365088.1(SLC12A6):c.1747G>T (p.Ala583Ser)
NM_001365088.1(SLC12A6):c.1760G>A (p.Ser587Asn)
NM_001365088.1(SLC12A6):c.1761C>T (p.Ser587=) rs2140693027
NM_001365088.1(SLC12A6):c.1786C>T (p.Gln596Ter)
NM_001365088.1(SLC12A6):c.17CCA[2] (p.Thr8del) rs768255547
NM_001365088.1(SLC12A6):c.1814C>T (p.Pro605Leu)
NM_001365088.1(SLC12A6):c.1824+10C>T
NM_001365088.1(SLC12A6):c.1824+14T>C rs948592710
NM_001365088.1(SLC12A6):c.1824+15A>G
NM_001365088.1(SLC12A6):c.1824+18A>T
NM_001365088.1(SLC12A6):c.1824+18_1824+19dup
NM_001365088.1(SLC12A6):c.1824+7G>T
NM_001365088.1(SLC12A6):c.1824+8A>G
NM_001365088.1(SLC12A6):c.1825-4A>T rs4633682
NM_001365088.1(SLC12A6):c.1825-6G>A rs372220263
NM_001365088.1(SLC12A6):c.1825-7T>C
NM_001365088.1(SLC12A6):c.1837A>T (p.Ser613Cys)
NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser) rs201468351
NM_001365088.1(SLC12A6):c.1848T>C (p.Asn616=) rs2140689987
NM_001365088.1(SLC12A6):c.1856C>A (p.Pro619His)
NM_001365088.1(SLC12A6):c.1860C>G (p.Thr620=) rs2140689886
NM_001365088.1(SLC12A6):c.1866T>G (p.Ala622=) rs1351787379
NM_001365088.1(SLC12A6):c.1875A>T (p.Leu625=) rs2140689778
NM_001365088.1(SLC12A6):c.1884C>A (p.Ala628=) rs2140689734
NM_001365088.1(SLC12A6):c.1893G>A (p.Glu631=) rs192253331
NM_001365088.1(SLC12A6):c.1905C>A (p.Leu635=)
NM_001365088.1(SLC12A6):c.1909G>T (p.Ala637Ser) rs2140689487
NM_001365088.1(SLC12A6):c.1910C>T (p.Ala637Val) rs2140689472
NM_001365088.1(SLC12A6):c.1914C>T (p.Ser638=)
NM_001365088.1(SLC12A6):c.1920T>C (p.Asp640=) rs2140689402
NM_001365088.1(SLC12A6):c.1922T>C (p.Leu641Pro)
NM_001365088.1(SLC12A6):c.1923T>C (p.Leu641=)
NM_001365088.1(SLC12A6):c.1926G>A (p.Val642=) rs2140689385
NM_001365088.1(SLC12A6):c.192T>A (p.Ser64=) rs1257946953
NM_001365088.1(SLC12A6):c.192T>C (p.Ser64=)
NM_001365088.1(SLC12A6):c.192T>G (p.Ser64=)
NM_001365088.1(SLC12A6):c.1939T>C (p.Ser647Pro) rs879253966
NM_001365088.1(SLC12A6):c.1943+14A>G
NM_001365088.1(SLC12A6):c.1943+17C>A
NM_001365088.1(SLC12A6):c.1943+18T>C
NM_001365088.1(SLC12A6):c.1943+6_1943+7del
NM_001365088.1(SLC12A6):c.1943+7G>T
NM_001365088.1(SLC12A6):c.1944-10del rs769896374
NM_001365088.1(SLC12A6):c.1944-11_1944-10del
NM_001365088.1(SLC12A6):c.1944-14T>C
NM_001365088.1(SLC12A6):c.1944-6C>A
NM_001365088.1(SLC12A6):c.1944-8T>C
NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)
NM_001365088.1(SLC12A6):c.1953C>A (p.Leu651=)
NM_001365088.1(SLC12A6):c.1953C>T (p.Leu651=)
NM_001365088.1(SLC12A6):c.195G>A (p.Gly65=)
NM_001365088.1(SLC12A6):c.1960T>A (p.Tyr654Asn)
NM_001365088.1(SLC12A6):c.1962C>A (p.Tyr654Ter) rs780221317
NM_001365088.1(SLC12A6):c.1962C>T (p.Tyr654=)
NM_001365088.1(SLC12A6):c.1965C>G (p.Leu655=)
NM_001365088.1(SLC12A6):c.1977G>A (p.Leu659=)
NM_001365088.1(SLC12A6):c.197C>T (p.Ala66Val)
NM_001365088.1(SLC12A6):c.1989G>A (p.Leu663=)
NM_001365088.1(SLC12A6):c.198C>T (p.Ala66=)
NM_001365088.1(SLC12A6):c.199A>G (p.Thr67Ala)
NM_001365088.1(SLC12A6):c.1A>G (p.Met1Val) rs1295560007
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)
NM_001365088.1(SLC12A6):c.2002_2003insTGGA (p.Arg668fs) rs2140682397
NM_001365088.1(SLC12A6):c.2004A>G (p.Arg668=)
NM_001365088.1(SLC12A6):c.2010C>T (p.Pro670=) rs2140682336
NM_001365088.1(SLC12A6):c.2012A>G (p.Asn671Ser)
NM_001365088.1(SLC12A6):c.2015G>A (p.Trp672Ter) rs2140682314
NM_001365088.1(SLC12A6):c.201C>G (p.Thr67=) rs1351579228
NM_001365088.1(SLC12A6):c.2022C>A (p.Pro674=)
NM_001365088.1(SLC12A6):c.2022C>T (p.Pro674=)
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2025A>T (p.Arg675=)
NM_001365088.1(SLC12A6):c.2029C>G (p.Arg677Gly)
NM_001365088.1(SLC12A6):c.2030G>A (p.Arg677His)
NM_001365088.1(SLC12A6):c.2033A>G (p.Tyr678Cys) rs1566806106
NM_001365088.1(SLC12A6):c.2034C>T (p.Tyr678=)
NM_001365088.1(SLC12A6):c.2036A>G (p.Tyr679Cys) rs2140682156
NM_001365088.1(SLC12A6):c.2040T>C (p.His680=) rs1014806593
NM_001365088.1(SLC12A6):c.2042+11T>C
NM_001365088.1(SLC12A6):c.2042+14T>G
NM_001365088.1(SLC12A6):c.2042+4A>G
NM_001365088.1(SLC12A6):c.2043-11T>C
NM_001365088.1(SLC12A6):c.2043-16G>A
NM_001365088.1(SLC12A6):c.2043-17T>C
NM_001365088.1(SLC12A6):c.2043-17del rs746113605
NM_001365088.1(SLC12A6):c.2043-17dup
NM_001365088.1(SLC12A6):c.2043-20T>C
NM_001365088.1(SLC12A6):c.2043-7T>A
NM_001365088.1(SLC12A6):c.2043-9A>T rs1462865141
NM_001365088.1(SLC12A6):c.204T>C (p.Thr68=) rs2141212180
NM_001365088.1(SLC12A6):c.2055C>T (p.Phe685=) rs2140670573
NM_001365088.1(SLC12A6):c.2068_2071del (p.Ile690fs)
NM_001365088.1(SLC12A6):c.207G>A (p.Ser69=) rs757882297
NM_001365088.1(SLC12A6):c.2080C>T (p.Leu694=)
NM_001365088.1(SLC12A6):c.2122G>C (p.Val708Leu)
NM_001365088.1(SLC12A6):c.2124A>G (p.Val708=) rs574823646
NM_001365088.1(SLC12A6):c.2134A>G (p.Met712Val)
NM_001365088.1(SLC12A6):c.213A>G (p.Ala71=) rs1440038626
NM_001365088.1(SLC12A6):c.2142C>G (p.Tyr714Ter) rs2140670185
NM_001365088.1(SLC12A6):c.2142C>T (p.Tyr714=) rs2140670185
NM_001365088.1(SLC12A6):c.2148C>T (p.Tyr716=) rs2140670108
NM_001365088.1(SLC12A6):c.214A>G (p.Thr72Ala)
NM_001365088.1(SLC12A6):c.2157C>G (p.Tyr719Ter) rs2140670011
NM_001365088.1(SLC12A6):c.2160A>G (p.Gln720=)
NM_001365088.1(SLC12A6):c.2162+10G>A
NM_001365088.1(SLC12A6):c.2162+10G>T rs1595411499
NM_001365088.1(SLC12A6):c.2162+12T>G
NM_001365088.1(SLC12A6):c.2162+2T>A rs2140669923
NM_001365088.1(SLC12A6):c.2162+9G>C
NM_001365088.1(SLC12A6):c.2163-11T>A
NM_001365088.1(SLC12A6):c.2163-13_2163-10del
NM_001365088.1(SLC12A6):c.2163-13_2163-9del rs2140665613
NM_001365088.1(SLC12A6):c.2163-14del rs771321354
NM_001365088.1(SLC12A6):c.2163-19T>C
NM_001365088.1(SLC12A6):c.2163-5C>A
NM_001365088.1(SLC12A6):c.2163-7C>T rs2140665584
NM_001365088.1(SLC12A6):c.2163A>C (p.Gly721=)
NM_001365088.1(SLC12A6):c.2169G>A (p.Glu723=) rs2705357
NM_001365088.1(SLC12A6):c.2180del (p.Gly727fs)
NM_001365088.1(SLC12A6):c.2196G>A (p.Gly732=)
NM_001365088.1(SLC12A6):c.2197C>T (p.Leu733=)
NM_001365088.1(SLC12A6):c.2199G>A (p.Leu733=) rs767329049
NM_001365088.1(SLC12A6):c.219T>A (p.Val73=)
NM_001365088.1(SLC12A6):c.2202C>T (p.Ser734=) rs1026169749
NM_001365088.1(SLC12A6):c.2207G>C (p.Ser736Thr)
NM_001365088.1(SLC12A6):c.220G>C (p.Ala74Pro)
NM_001365088.1(SLC12A6):c.2214C>G (p.Ala738=)
NM_001365088.1(SLC12A6):c.2215C>T (p.Arg739Trp)
NM_001365088.1(SLC12A6):c.222A>C (p.Ala74=)
NM_001365088.1(SLC12A6):c.222A>T (p.Ala74=)
NM_001365088.1(SLC12A6):c.2233T>C (p.Leu745=) rs762365476
NM_001365088.1(SLC12A6):c.223C>T (p.Leu75=) rs1595597314
NM_001365088.1(SLC12A6):c.2241A>G (p.Glu747=)
NM_001365088.1(SLC12A6):c.2259A>G (p.Lys753=)
NM_001365088.1(SLC12A6):c.225G>A (p.Leu75=)
NM_001365088.1(SLC12A6):c.2267+11C>T rs1278059694
NM_001365088.1(SLC12A6):c.2267+16C>T
NM_001365088.1(SLC12A6):c.2267+6G>T rs1205721914
NM_001365088.1(SLC12A6):c.2267+9A>G rs2140665219
NM_001365088.1(SLC12A6):c.2268-12A>C
NM_001365088.1(SLC12A6):c.2268-16A>G
NM_001365088.1(SLC12A6):c.2268-19C>T
NM_001365088.1(SLC12A6):c.2268-8C>T
NM_001365088.1(SLC12A6):c.2268-9T>G
NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)
NM_001365088.1(SLC12A6):c.2280T>C (p.Leu760=)
NM_001365088.1(SLC12A6):c.2283A>G (p.Val761=)
NM_001365088.1(SLC12A6):c.2287C>T (p.Leu763=) rs1403453011
NM_001365088.1(SLC12A6):c.2293C>G (p.Leu765Val) rs779541247
NM_001365088.1(SLC12A6):c.2293C>T (p.Leu765=)
NM_001365088.1(SLC12A6):c.2299G>C (p.Glu767Gln)
NM_001365088.1(SLC12A6):c.2304C>T (p.Asp768=)
NM_001365088.1(SLC12A6):c.2305T>G (p.Leu769Val) rs1044724997
NM_001365088.1(SLC12A6):c.231A>G (p.Pro77=)
NM_001365088.1(SLC12A6):c.231A>T (p.Pro77=)
NM_001365088.1(SLC12A6):c.2338G>C (p.Ala780Pro)
NM_001365088.1(SLC12A6):c.2340C>T (p.Ala780=) rs753623321
NM_001365088.1(SLC12A6):c.234C>T (p.Pro78=)
NM_001365088.1(SLC12A6):c.2370dup (p.Ile791fs)
NM_001365088.1(SLC12A6):c.2377G>T (p.Gly793Cys)
NM_001365088.1(SLC12A6):c.2379C>T (p.Gly793=)
NM_001365088.1(SLC12A6):c.2380T>G (p.Ser794Ala)
NM_001365088.1(SLC12A6):c.2387T>C (p.Ile796Thr)
NM_001365088.1(SLC12A6):c.2389G>A (p.Val797Met)
NM_001365088.1(SLC12A6):c.2389G>T (p.Val797Leu) rs1302200388
NM_001365088.1(SLC12A6):c.2401C>T (p.Leu801=) rs1356085653
NM_001365088.1(SLC12A6):c.2409C>T (p.Asn803=) rs763262122
NM_001365088.1(SLC12A6):c.2413G>A (p.Gly805Ser)
NM_001365088.1(SLC12A6):c.2418A>G (p.Glu806=)
NM_001365088.1(SLC12A6):c.2419G>A (p.Ala807Thr)
NM_001365088.1(SLC12A6):c.241C>T (p.Arg81Trp)
NM_001365088.1(SLC12A6):c.2421T>G (p.Ala807=) rs1595408694
NM_001365088.1(SLC12A6):c.2424A>G (p.Leu808=) rs1233826704
NM_001365088.1(SLC12A6):c.2425G>A (p.Ala809Thr) rs544675253
NM_001365088.1(SLC12A6):c.2433G>A (p.Glu811=)
NM_001365088.1(SLC12A6):c.2436+10del rs2140662539
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2436+2T>C rs1891579114
NM_001365088.1(SLC12A6):c.2436+4A>G
NM_001365088.1(SLC12A6):c.2436+7G>T rs781098444
NM_001365088.1(SLC12A6):c.2436+9_2436+10dup
NM_001365088.1(SLC12A6):c.243G>A (p.Arg81=)
NM_001365088.1(SLC12A6):c.24C>T (p.Thr8=)
NM_001365088.1(SLC12A6):c.255C>G (p.Pro85=)
NM_001365088.1(SLC12A6):c.256C>T (p.Gln86Ter)
NM_001365088.1(SLC12A6):c.259G>A (p.Asp87Asn)
NM_001365088.1(SLC12A6):c.25A>G (p.Lys9Glu) rs2141213584
NM_001365088.1(SLC12A6):c.262_263del (p.Val88fs)
NM_001365088.1(SLC12A6):c.2633-15C>G
NM_001365088.1(SLC12A6):c.2633-16T>G
NM_001365088.1(SLC12A6):c.2633-17T>C
NM_001365088.1(SLC12A6):c.2633-4C>T rs1459974478
NM_001365088.1(SLC12A6):c.2633-7T>C
NM_001365088.1(SLC12A6):c.2633-8C>A
NM_001365088.1(SLC12A6):c.2633-9T>C
NM_001365088.1(SLC12A6):c.2634C>T (p.Gly878=)
NM_001365088.1(SLC12A6):c.2640T>C (p.Val880=) rs1891418187
NM_001365088.1(SLC12A6):c.2641C>A (p.Arg881=) rs1891418018
NM_001365088.1(SLC12A6):c.2643A>G (p.Arg881=) rs2140650104
NM_001365088.1(SLC12A6):c.2644G>C (p.Val882Leu)
NM_001365088.1(SLC12A6):c.2650dup (p.Thr884fs)
NM_001365088.1(SLC12A6):c.2655T>G (p.Ala885=) rs2140650065
NM_001365088.1(SLC12A6):c.2660A>G (p.His887Arg) rs1566801268
NM_001365088.1(SLC12A6):c.2666C>G (p.Ala889Gly)
NM_001365088.1(SLC12A6):c.2670G>A (p.Leu890=) rs1237557154
NM_001365088.1(SLC12A6):c.2670G>T (p.Leu890=)
NM_001365088.1(SLC12A6):c.2673G>A (p.Leu891=)
NM_001365088.1(SLC12A6):c.2685del (p.Asn895fs)
NM_001365088.1(SLC12A6):c.2688C>T (p.Ile896=)
NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del) rs1555377235
NM_001365088.1(SLC12A6):c.2700C>T (p.Pro900=) rs2140649867
NM_001365088.1(SLC12A6):c.2706T>C (p.Asn902=)
NM_001365088.1(SLC12A6):c.271+12C>T
NM_001365088.1(SLC12A6):c.271+15_271+18del
NM_001365088.1(SLC12A6):c.271+17261dup rs926815901
NM_001365088.1(SLC12A6):c.271+17279del rs926815901
NM_001365088.1(SLC12A6):c.271+17385C>G rs113986260
NM_001365088.1(SLC12A6):c.271+17647C>G rs347867
NM_001365088.1(SLC12A6):c.271+17781C>T
NM_001365088.1(SLC12A6):c.271+18C>T
NM_001365088.1(SLC12A6):c.271+19C>T rs180871525
NM_001365088.1(SLC12A6):c.271+1G>A
NM_001365088.1(SLC12A6):c.271+20G>A
NM_001365088.1(SLC12A6):c.271+2T>C
NM_001365088.1(SLC12A6):c.271+2T>G rs1890198564
NM_001365088.1(SLC12A6):c.271+7A>G rs2141211353
NM_001365088.1(SLC12A6):c.2710G>T (p.Glu904Ter) rs767245568
NM_001365088.1(SLC12A6):c.272-15T>C
NM_001365088.1(SLC12A6):c.272-2A>G
NM_001365088.1(SLC12A6):c.272-5T>C
NM_001365088.1(SLC12A6):c.272-9_272-6del rs1446038806
NM_001365088.1(SLC12A6):c.2721T>G (p.Ser907=)
NM_001365088.1(SLC12A6):c.2724G>A (p.Glu908=)
NM_001365088.1(SLC12A6):c.2730C>T (p.Asn910=) rs1891413086
NM_001365088.1(SLC12A6):c.2731A>G (p.Ile911Val)
NM_001365088.1(SLC12A6):c.2736dup (p.Val913fs)
NM_001365088.1(SLC12A6):c.2739G>C (p.Val913=)
NM_001365088.1(SLC12A6):c.2744G>A (p.Trp915Ter)
NM_001365088.1(SLC12A6):c.2745G>T (p.Trp915Cys)
NM_001365088.1(SLC12A6):c.2751G>T (p.Val917=) rs2140649614
NM_001365088.1(SLC12A6):c.2757T>C (p.Asp919=)
NM_001365088.1(SLC12A6):c.2760G>A (p.Gly920=) rs1037913626
NM_001365088.1(SLC12A6):c.2760G>C (p.Gly920=)
NM_001365088.1(SLC12A6):c.276G>A (p.Leu92=)
NM_001365088.1(SLC12A6):c.2775A>G (p.Leu925=)
NM_001365088.1(SLC12A6):c.2778A>G (p.Leu926=) rs2140649401
NM_001365088.1(SLC12A6):c.2781A>G (p.Pro927=) rs2140649393
NM_001365088.1(SLC12A6):c.2789T>A (p.Leu930Gln) rs2140649364
NM_001365088.1(SLC12A6):c.2796G>A (p.Gln932=)
NM_001365088.1(SLC12A6):c.2799C>T (p.His933=) rs1462554701
NM_001365088.1(SLC12A6):c.27G>A (p.Lys9=)
NM_001365088.1(SLC12A6):c.2802+10A>G
NM_001365088.1(SLC12A6):c.2802+14C>T
NM_001365088.1(SLC12A6):c.2802+14_2802+15insA
NM_001365088.1(SLC12A6):c.2802+15T>C
NM_001365088.1(SLC12A6):c.2802+19T>G
NM_001365088.1(SLC12A6):c.2802+20T>C
NM_001365088.1(SLC12A6):c.2802+20T>G
NM_001365088.1(SLC12A6):c.2802+7T>C
NM_001365088.1(SLC12A6):c.2802+9T>C
NM_001365088.1(SLC12A6):c.2803-18T>C
NM_001365088.1(SLC12A6):c.2803-19G>A
NM_001365088.1(SLC12A6):c.2803-20T>C
NM_001365088.1(SLC12A6):c.2803-21_2803-20del
NM_001365088.1(SLC12A6):c.2803-2A>C
NM_001365088.1(SLC12A6):c.2803-5C>G
NM_001365088.1(SLC12A6):c.2803-7C>G rs1338213058
NM_001365088.1(SLC12A6):c.2805G>A (p.Val935=)
NM_001365088.1(SLC12A6):c.2808G>A (p.Trp936Ter)
NM_001365088.1(SLC12A6):c.2810G>A (p.Arg937Gln)
NM_001365088.1(SLC12A6):c.2811A>C (p.Arg937=) rs1426374277
NM_001365088.1(SLC12A6):c.2811A>G (p.Arg937=) rs1426374277
NM_001365088.1(SLC12A6):c.2815T>C (p.Cys939Arg)
NM_001365088.1(SLC12A6):c.2835A>G (p.Thr945=) rs764945583
NM_001365088.1(SLC12A6):c.2855A>G (p.Asn952Ser) rs879254048
NM_001365088.1(SLC12A6):c.2856C>T (p.Asn952=)
NM_001365088.1(SLC12A6):c.2862C>A (p.Ile954=) rs2140645207
NM_001365088.1(SLC12A6):c.2870A>C (p.Lys957Thr)
NM_001365088.1(SLC12A6):c.2871G>A (p.Lys957=) rs2140645196
NM_001365088.1(SLC12A6):c.288C>A (p.Ser96=)
NM_001365088.1(SLC12A6):c.288C>T (p.Ser96=)
NM_001365088.1(SLC12A6):c.2892A>G (p.Leu964=) rs760148830
NM_001365088.1(SLC12A6):c.2893dup (p.Tyr965fs) rs1275422176
NM_001365088.1(SLC12A6):c.289A>G (p.Ile97Val)
NM_001365088.1(SLC12A6):c.289A>T (p.Ile97Phe)
NM_001365088.1(SLC12A6):c.28dup (p.Met10fs)
NM_001365088.1(SLC12A6):c.2904C>G (p.Arg968=) rs2140645011
NM_001365088.1(SLC12A6):c.2910G>A (p.Glu970=)
NM_001365088.1(SLC12A6):c.2916G>A (p.Glu972=)
NM_001365088.1(SLC12A6):c.2928G>A (p.Val976=)
NM_001365088.1(SLC12A6):c.2934+122dup rs35994446
NM_001365088.1(SLC12A6):c.2934+12G>A
NM_001365088.1(SLC12A6):c.2934+14G>C
NM_001365088.1(SLC12A6):c.2934+16T>C
NM_001365088.1(SLC12A6):c.2934+8A>C
NM_001365088.1(SLC12A6):c.2935-16G>A
NM_001365088.1(SLC12A6):c.2935-18_2935-17insAAA
NM_001365088.1(SLC12A6):c.2935-19T>C
NM_001365088.1(SLC12A6):c.2935-20T>A
NM_001365088.1(SLC12A6):c.2935-5dup rs771183227
NM_001365088.1(SLC12A6):c.294_295del (p.Glu100fs) rs1292460656
NM_001365088.1(SLC12A6):c.2955A>G (p.Ala985=) rs1566799702
NM_001365088.1(SLC12A6):c.2962_2963dup (p.Glu989fs) rs2140641550
NM_001365088.1(SLC12A6):c.2964C>T (p.Tyr988=) rs1255615487
NM_001365088.1(SLC12A6):c.2968C>T (p.Arg990Cys)
NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)
NM_001365088.1(SLC12A6):c.297G>C (p.Gly99=)
NM_001365088.1(SLC12A6):c.2983G>T (p.Glu995Ter) rs1891297825
NM_001365088.1(SLC12A6):c.2988A>G (p.Gln996=) rs1455950770
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter) rs573444140
NM_001365088.1(SLC12A6):c.2994C>T (p.Ser998=)
NM_001365088.1(SLC12A6):c.2995C>T (p.Gln999Ter)
NM_001365088.1(SLC12A6):c.3007C>T (p.His1003Tyr)
NM_001365088.1(SLC12A6):c.300A>G (p.Glu100=)
NM_001365088.1(SLC12A6):c.3013C>A (p.Arg1005=)
NM_001365088.1(SLC12A6):c.3013C>T (p.Arg1005Trp)
NM_001365088.1(SLC12A6):c.3014G>A (p.Arg1005Gln)
NM_001365088.1(SLC12A6):c.3015G>A (p.Arg1005=) rs2140641330
NM_001365088.1(SLC12A6):c.3042+16A>G
NM_001365088.1(SLC12A6):c.3043-10T>C rs2140638619
NM_001365088.1(SLC12A6):c.3043-13C>T
NM_001365088.1(SLC12A6):c.3043-17T>C
NM_001365088.1(SLC12A6):c.3043-5C>T
NM_001365088.1(SLC12A6):c.3043-8T>C rs1418308119
NM_001365088.1(SLC12A6):c.3043-8_3043-7insTGA rs1064795364
NM_001365088.1(SLC12A6):c.3045A>G (p.Ala1015=) rs1595398190
NM_001365088.1(SLC12A6):c.3049T>C (p.Leu1017=) rs1018624994
NM_001365088.1(SLC12A6):c.3054G>A (p.Val1018=)
NM_001365088.1(SLC12A6):c.3058G>C (p.Asp1020His)
NM_001365088.1(SLC12A6):c.3060C>T (p.Asp1020=)
NM_001365088.1(SLC12A6):c.3061C>T (p.Arg1021Ter)
NM_001365088.1(SLC12A6):c.3070A>G (p.Met1024Val)
NM_001365088.1(SLC12A6):c.3072G>A (p.Met1024Ile)
NM_001365088.1(SLC12A6):c.3084C>T (p.Thr1028=)
NM_001365088.1(SLC12A6):c.3089T>C (p.Ile1030Thr)
NM_001365088.1(SLC12A6):c.3099T>C (p.Asp1033=) rs1335215353
NM_001365088.1(SLC12A6):c.309A>G (p.Gln103=) rs772276744
NM_001365088.1(SLC12A6):c.3106G>A (p.Glu1036Lys)
NM_001365088.1(SLC12A6):c.3113_3114del (p.Thr1038fs)
NM_001365088.1(SLC12A6):c.3116A>T (p.Glu1039Val)
NM_001365088.1(SLC12A6):c.3120C>G (p.Thr1040=) rs571120129
NM_001365088.1(SLC12A6):c.3126G>C (p.Gln1042His)
NM_001365088.1(SLC12A6):c.3129G>C (p.Glu1043Asp)
NM_001365088.1(SLC12A6):c.3138C>T (p.His1046=)
NM_001365088.1(SLC12A6):c.313T>C (p.Leu105=) rs138484282
NM_001365088.1(SLC12A6):c.3146G>A (p.Trp1049Ter)
NM_001365088.1(SLC12A6):c.3159G>A (p.Lys1053=)
NM_001365088.1(SLC12A6):c.315A>G (p.Leu105=)
NM_001365088.1(SLC12A6):c.316+12C>G
NM_001365088.1(SLC12A6):c.316+12C>T
NM_001365088.1(SLC12A6):c.316+13T>C
NM_001365088.1(SLC12A6):c.316+16G>A
NM_001365088.1(SLC12A6):c.316+19G>T
NM_001365088.1(SLC12A6):c.316+1G>A rs1462170681
NM_001365088.1(SLC12A6):c.316+3A>G
NM_001365088.1(SLC12A6):c.316+5A>C
NM_001365088.1(SLC12A6):c.316+6G>C rs1894227805
NM_001365088.1(SLC12A6):c.316+8A>G rs1057523886
NM_001365088.1(SLC12A6):c.316+8A>T rs1057523886
NM_001365088.1(SLC12A6):c.3163A>G (p.Met1055Val)
NM_001365088.1(SLC12A6):c.317-10T>G rs2140778686
NM_001365088.1(SLC12A6):c.317-11T>A
NM_001365088.1(SLC12A6):c.317-14T>C
NM_001365088.1(SLC12A6):c.317-14dup rs747243268
NM_001365088.1(SLC12A6):c.317-15C>T
NM_001365088.1(SLC12A6):c.317-16A>C rs770986271
NM_001365088.1(SLC12A6):c.317-17T>A
NM_001365088.1(SLC12A6):c.317-1G>A
NM_001365088.1(SLC12A6):c.317-3dup
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365088.1(SLC12A6):c.317-6_317-5del rs747243268
NM_001365088.1(SLC12A6):c.3171C>G (p.Ser1057=)
NM_001365088.1(SLC12A6):c.3171C>T (p.Ser1057=) rs747885824
NM_001365088.1(SLC12A6):c.3172C>T (p.Arg1058Trp)
NM_001365088.1(SLC12A6):c.3173G>A (p.Arg1058Gln)
NM_001365088.1(SLC12A6):c.3174G>T (p.Arg1058=) rs1333110524
NM_001365088.1(SLC12A6):c.3178C>T (p.Gln1060Ter)
NM_001365088.1(SLC12A6):c.3185C>T (p.Ala1062Val)
NM_001365088.1(SLC12A6):c.3192A>G (p.Ser1064=)
NM_001365088.1(SLC12A6):c.3193A>C (p.Met1065Leu)
NM_001365088.1(SLC12A6):c.3196del (p.Glu1066fs)
NM_001365088.1(SLC12A6):c.3205C>T (p.Gln1069Ter)
NM_001365088.1(SLC12A6):c.3211C>T (p.Leu1071=)
NM_001365088.1(SLC12A6):c.3227+11C>G
NM_001365088.1(SLC12A6):c.3227+12C>G
NM_001365088.1(SLC12A6):c.3227+18C>T
NM_001365088.1(SLC12A6):c.3227+19A>G
NM_001365088.1(SLC12A6):c.3227+1G>A rs1057516969
NM_001365088.1(SLC12A6):c.3227+20A>C
NM_001365088.1(SLC12A6):c.3227+9T>A
NM_001365088.1(SLC12A6):c.3227C>T (p.Pro1076Leu)
NM_001365088.1(SLC12A6):c.3228-11T>C rs2140633652
NM_001365088.1(SLC12A6):c.3228-12T>A
NM_001365088.1(SLC12A6):c.3228-18dup
NM_001365088.1(SLC12A6):c.3228-1G>A rs2140633558
NM_001365088.1(SLC12A6):c.3228-277A>G rs111631907
NM_001365088.1(SLC12A6):c.3228-277A>T rs111631907
NM_001365088.1(SLC12A6):c.3228-281G>T rs182432979
NM_001365088.1(SLC12A6):c.3228-2_3228-1del rs1444227608
NM_001365088.1(SLC12A6):c.3228-5C>T rs938212238
NM_001365088.1(SLC12A6):c.3228-5del
NM_001365088.1(SLC12A6):c.3228-6A>C
NM_001365088.1(SLC12A6):c.3228-6A>G rs2140633596
NM_001365088.1(SLC12A6):c.3228-7C>T rs1440060174
NM_001365088.1(SLC12A6):c.3228-8C>A
NM_001365088.1(SLC12A6):c.322G>A (p.Gly108Arg)
NM_001365088.1(SLC12A6):c.324A>G (p.Gly108=)
NM_001365088.1(SLC12A6):c.3262G>C (p.Val1088Leu)
NM_001365088.1(SLC12A6):c.3279T>C (p.Val1093=)
NM_001365088.1(SLC12A6):c.327T>C (p.His109=)
NM_001365088.1(SLC12A6):c.3294C>G (p.Ser1098=)
NM_001365088.1(SLC12A6):c.32C>T (p.Ala11Val)
NM_001365088.1(SLC12A6):c.3307C>T (p.Leu1103=)
NM_001365088.1(SLC12A6):c.3309G>A (p.Leu1103=) rs1394941168
NM_001365088.1(SLC12A6):c.3311T>C (p.Val1104Ala)
NM_001365088.1(SLC12A6):c.3316T>C (p.Leu1106=) rs2140633303
NM_001365088.1(SLC12A6):c.3318G>A (p.Leu1106=) rs1891172658
NM_001365088.1(SLC12A6):c.3320A>G (p.Asn1107Ser)
NM_001365088.1(SLC12A6):c.3360C>T (p.Asn1120=)
NM_001365088.1(SLC12A6):c.3361+15A>G
NM_001365088.1(SLC12A6):c.3361+15A>T
NM_001365088.1(SLC12A6):c.3361+16G>A
NM_001365088.1(SLC12A6):c.3361+17T>C
NM_001365088.1(SLC12A6):c.3361+19G>T
NM_001365088.1(SLC12A6):c.3361+20G>T
NM_001365088.1(SLC12A6):c.3361+297G>T rs73388020
NM_001365088.1(SLC12A6):c.3362-16T>C
NM_001365088.1(SLC12A6):c.3362-20C>G
NM_001365088.1(SLC12A6):c.3362-5del
NM_001365088.1(SLC12A6):c.3363C>T (p.Tyr1121=) rs1477586472
NM_001365088.1(SLC12A6):c.336T>C (p.Ala112=)
NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter) rs1054429141
NM_001365088.1(SLC12A6):c.3381G>A (p.Val1127=) rs2140626924
NM_001365088.1(SLC12A6):c.3387C>A (p.Thr1129=) rs777174639
NM_001365088.1(SLC12A6):c.3393A>G (p.Gly1131=) rs1891084218
NM_001365088.1(SLC12A6):c.3398A>G (p.Glu1133Gly)
NM_001365088.1(SLC12A6):c.33T>G (p.Ala11=)
NM_001365088.1(SLC12A6):c.3401G>A (p.Arg1134Gln)
NM_001365088.1(SLC12A6):c.3402A>T (p.Arg1134=) rs750825269
NM_001365088.1(SLC12A6):c.3408A>G (p.Leu1136=)
NM_001365088.1(SLC12A6):c.3411T>C (p.Leu1137=) rs2140626681
NM_001365088.1(SLC12A6):c.3414C>G (p.Val1138=)
NM_001365088.1(SLC12A6):c.3415C>T (p.Arg1139Trp)
NM_001365088.1(SLC12A6):c.343G>A (p.Ala115Thr)
NM_001365088.1(SLC12A6):c.349C>G (p.Leu117Val)
NM_001365088.1(SLC12A6):c.366T>G (p.Tyr122Ter) rs2140778033
NM_001365088.1(SLC12A6):c.36A>G (p.Ser12=) rs2141213476
NM_001365088.1(SLC12A6):c.372A>G (p.Glu124=) rs753224246
NM_001365088.1(SLC12A6):c.373G>A (p.Gly125Arg)
NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val) rs759907642
NM_001365088.1(SLC12A6):c.374_375delinsAG (p.Gly125Glu) rs2140777796
NM_001365088.1(SLC12A6):c.376G>A (p.Asp126Asn) rs2140777746
NM_001365088.1(SLC12A6):c.390dup (p.Lys131Ter) rs2140777637
NM_001365088.1(SLC12A6):c.39T>A (p.Val13=)
NM_001365088.1(SLC12A6):c.411+10del rs377536268
NM_001365088.1(SLC12A6):c.411+116_411+120del rs139124111
NM_001365088.1(SLC12A6):c.411+11G>A
NM_001365088.1(SLC12A6):c.411+14del
NM_001365088.1(SLC12A6):c.411+16A>G
NM_001365088.1(SLC12A6):c.411+17A>C
NM_001365088.1(SLC12A6):c.411+17A>G
NM_001365088.1(SLC12A6):c.411+18A>C
NM_001365088.1(SLC12A6):c.411+19del
NM_001365088.1(SLC12A6):c.412-13A>C
NM_001365088.1(SLC12A6):c.412-13A>T
NM_001365088.1(SLC12A6):c.412-16G>T
NM_001365088.1(SLC12A6):c.412-18A>G
NM_001365088.1(SLC12A6):c.412-18A>T
NM_001365088.1(SLC12A6):c.412-20C>A
NM_001365088.1(SLC12A6):c.412-4A>G rs2140758036
NM_001365088.1(SLC12A6):c.412-7T>C rs2140758059
NM_001365088.1(SLC12A6):c.412-8C>T rs2140758085
NM_001365088.1(SLC12A6):c.417A>G (p.Glu139=)
NM_001365088.1(SLC12A6):c.419T>G (p.Met140Arg)
NM_001365088.1(SLC12A6):c.41G>A (p.Arg14Gln)
NM_001365088.1(SLC12A6):c.426C>T (p.Thr142=) rs771590806
NM_001365088.1(SLC12A6):c.432G>C (p.Pro144=)
NM_001365088.1(SLC12A6):c.435G>A (p.Lys145=) rs2140757627
NM_001365088.1(SLC12A6):c.441T>C (p.Ser147=) rs1595448065
NM_001365088.1(SLC12A6):c.441T>G (p.Ser147=) rs1595448065
NM_001365088.1(SLC12A6):c.443C>G (p.Ser148Cys)
NM_001365088.1(SLC12A6):c.444C>G (p.Ser148=)
NM_001365088.1(SLC12A6):c.444C>T (p.Ser148=)
NM_001365088.1(SLC12A6):c.450C>A (p.Leu150=) rs781656392
NM_001365088.1(SLC12A6):c.450C>T (p.Leu150=)
NM_001365088.1(SLC12A6):c.453C>T (p.Asn151=)
NM_001365088.1(SLC12A6):c.465T>C (p.Asn155=)
NM_001365088.1(SLC12A6):c.474_475delinsCT (p.Asn158_Leu159=) rs2140757261
NM_001365088.1(SLC12A6):c.477G>A (p.Leu159=)
NM_001365088.1(SLC12A6):c.47del (p.Met16fs)
NM_001365088.1(SLC12A6):c.484G>A (p.Gly162Arg)
NM_001365088.1(SLC12A6):c.498T>C (p.His166=)
NM_001365088.1(SLC12A6):c.507A>G (p.Ala169=)
NM_001365088.1(SLC12A6):c.516C>T (p.Ile172=) rs761993928
NM_001365088.1(SLC12A6):c.51G>C (p.Val17=)
NM_001365088.1(SLC12A6):c.525G>A (p.Gly175=) rs1455326861
NM_001365088.1(SLC12A6):c.543+11A>G
NM_001365088.1(SLC12A6):c.543+139C>G rs112716447
NM_001365088.1(SLC12A6):c.543+16A>T
NM_001365088.1(SLC12A6):c.543+1G>A rs2140756412
NM_001365088.1(SLC12A6):c.543+20A>G
NM_001365088.1(SLC12A6):c.543+252G>T rs79393761
NM_001365088.1(SLC12A6):c.543+2T>C
NM_001365088.1(SLC12A6):c.543+2T>G rs1555381538
NM_001365088.1(SLC12A6):c.543+9_543+10del
NM_001365088.1(SLC12A6):c.544-16A>T rs753935218
NM_001365088.1(SLC12A6):c.544-18C>G
NM_001365088.1(SLC12A6):c.544-18C>T
NM_001365088.1(SLC12A6):c.544-20A>G
NM_001365088.1(SLC12A6):c.544-20del
NM_001365088.1(SLC12A6):c.544-21dup rs56033911
NM_001365088.1(SLC12A6):c.544-4C>A rs2140747581
NM_001365088.1(SLC12A6):c.544-4C>G
NM_001365088.1(SLC12A6):c.546C>G (p.Thr182=)
NM_001365088.1(SLC12A6):c.549C>A (p.Pro183=)
NM_001365088.1(SLC12A6):c.549C>G (p.Pro183=)
NM_001365088.1(SLC12A6):c.549C>T (p.Pro183=)
NM_001365088.1(SLC12A6):c.550C>T (p.Gln184Ter) rs935119099
NM_001365088.1(SLC12A6):c.550_551insT (p.Gln184fs)
NM_001365088.1(SLC12A6):c.561C>T (p.Thr187=) rs2140747077
NM_001365088.1(SLC12A6):c.563dup (p.Met189fs)
NM_001365088.1(SLC12A6):c.564C>T (p.Phe188=) rs2140747043
NM_001365088.1(SLC12A6):c.568G>A (p.Gly190Ser)
NM_001365088.1(SLC12A6):c.579C>T (p.Leu193=) rs2140746924
NM_001365088.1(SLC12A6):c.582A>G (p.Pro194=)
NM_001365088.1(SLC12A6):c.591A>G (p.Gln197=)
NM_001365088.1(SLC12A6):c.59C>G (p.Thr20Arg) rs2141213365
NM_001365088.1(SLC12A6):c.605T>G (p.Val202Gly)
NM_001365088.1(SLC12A6):c.609C>T (p.Ile203=) rs2140746741
NM_001365088.1(SLC12A6):c.60A>G (p.Thr20=) rs1595597824
NM_001365088.1(SLC12A6):c.617T>C (p.Leu206Ser)
NM_001365088.1(SLC12A6):c.63G>A (p.Lys21=) rs571064840
NM_001365088.1(SLC12A6):c.68A>G (p.Asp23Gly)
NM_001365088.1(SLC12A6):c.691-13C>T
NM_001365088.1(SLC12A6):c.691-14C>G
NM_001365088.1(SLC12A6):c.691-17T>C
NM_001365088.1(SLC12A6):c.691-18C>T
NM_001365088.1(SLC12A6):c.691-19C>G
NM_001365088.1(SLC12A6):c.691-19C>T
NM_001365088.1(SLC12A6):c.691-2A>C
NM_001365088.1(SLC12A6):c.691-2A>T rs2140734972
NM_001365088.1(SLC12A6):c.691-6C>T
NM_001365088.1(SLC12A6):c.691-7T>C
NM_001365088.1(SLC12A6):c.691-8C>T
NM_001365088.1(SLC12A6):c.693A>G (p.Thr231=) rs2140734916
NM_001365088.1(SLC12A6):c.694A>G (p.Met232Val)
NM_001365088.1(SLC12A6):c.695T>C (p.Met232Thr) rs2140734870
NM_001365088.1(SLC12A6):c.712A>G (p.Met238Val)
NM_001365088.1(SLC12A6):c.717T>A (p.Ser239Arg)
NM_001365088.1(SLC12A6):c.722T>G (p.Ile241Ser)
NM_001365088.1(SLC12A6):c.725C>T (p.Ala242Val) rs2140734739
NM_001365088.1(SLC12A6):c.738G>A (p.Val246=) rs2140734582
NM_001365088.1(SLC12A6):c.741G>A (p.Val247=)
NM_001365088.1(SLC12A6):c.745+12A>G
NM_001365088.1(SLC12A6):c.745+13A>G
NM_001365088.1(SLC12A6):c.745+15G>A
NM_001365088.1(SLC12A6):c.745+17T>G
NM_001365088.1(SLC12A6):c.745+2T>A rs1555380998
NM_001365088.1(SLC12A6):c.745+7A>C
NM_001365088.1(SLC12A6):c.745+7A>T rs2140734451
NM_001365088.1(SLC12A6):c.745+9G>A rs369891876
NM_001365088.1(SLC12A6):c.746-14G>A
NM_001365088.1(SLC12A6):c.746-167dup rs11421665
NM_001365088.1(SLC12A6):c.746-18T>C rs2140727765
NM_001365088.1(SLC12A6):c.746-19C>T
NM_001365088.1(SLC12A6):c.746-7C>G
NM_001365088.1(SLC12A6):c.74T>C (p.Ile25Thr)
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) rs1555380716
NM_001365088.1(SLC12A6):c.762T>C (p.Phe254=)
NM_001365088.1(SLC12A6):c.766A>C (p.Ile256Leu)
NM_001365088.1(SLC12A6):c.774G>A (p.Arg258=) rs2140727495
NM_001365088.1(SLC12A6):c.775G>T (p.Ala259Ser)
NM_001365088.1(SLC12A6):c.776C>T (p.Ala259Val)
NM_001365088.1(SLC12A6):c.786A>G (p.Pro262=)
NM_001365088.1(SLC12A6):c.789G>A (p.Glu263=)
NM_001365088.1(SLC12A6):c.78A>C (p.Pro26=)
NM_001365088.1(SLC12A6):c.798G>A (p.Gly266=) rs2140727374
NM_001365088.1(SLC12A6):c.808C>T (p.Leu270Phe)
NM_001365088.1(SLC12A6):c.813C>T (p.Cys271=)
NM_001365088.1(SLC12A6):c.821T>C (p.Leu274Pro)
NM_001365088.1(SLC12A6):c.831A>T (p.Thr277=) rs1219344067
NM_001365088.1(SLC12A6):c.837A>G (p.Ala279=) rs2140727142
NM_001365088.1(SLC12A6):c.839C>G (p.Ala280Gly)
NM_001365088.1(SLC12A6):c.843C>T (p.Ala281=)
NM_001365088.1(SLC12A6):c.854T>G (p.Leu285Arg) rs2140726894
NM_001365088.1(SLC12A6):c.856G>T (p.Gly286Cys) rs2140726876
NM_001365088.1(SLC12A6):c.858T>A (p.Gly286=)
NM_001365088.1(SLC12A6):c.861C>T (p.Ala287=) rs760276522
NM_001365088.1(SLC12A6):c.864T>C (p.Ile288=)
NM_001365088.1(SLC12A6):c.866A>G (p.Glu289Gly)
NM_001365088.1(SLC12A6):c.874C>T (p.Leu292=)
NM_001365088.1(SLC12A6):c.876+11A>G
NM_001365088.1(SLC12A6):c.876+16A>C
NM_001365088.1(SLC12A6):c.876+19G>A
NM_001365088.1(SLC12A6):c.876+20T>C
NM_001365088.1(SLC12A6):c.876+7A>G
NM_001365088.1(SLC12A6):c.876+8A>G rs1057524323
NM_001365088.1(SLC12A6):c.877-10dup rs1892621250
NM_001365088.1(SLC12A6):c.877-15A>T
NM_001365088.1(SLC12A6):c.877-177del rs11345194
NM_001365088.1(SLC12A6):c.877-299G>A rs77231823
NM_001365088.1(SLC12A6):c.877-2A>G
NM_001365088.1(SLC12A6):c.877-4A>G
NM_001365088.1(SLC12A6):c.877-5A>G rs763641160
NM_001365088.1(SLC12A6):c.877-7C>A
NM_001365088.1(SLC12A6):c.877-8C>T
NM_001365088.1(SLC12A6):c.877G>A (p.Val293Ile)
NM_001365088.1(SLC12A6):c.881A>G (p.Tyr294Cys)
NM_001365088.1(SLC12A6):c.886G>A (p.Val296Ile)
NM_001365088.1(SLC12A6):c.88G>A (p.Asp30Asn)
NM_001365088.1(SLC12A6):c.890C>A (p.Pro297His)
NM_001365088.1(SLC12A6):c.891C>A (p.Pro297=) rs1254643423
NM_001365088.1(SLC12A6):c.891C>G (p.Pro297=) rs1254643423
NM_001365088.1(SLC12A6):c.891C>T (p.Pro297=) rs1254643423
NM_001365088.1(SLC12A6):c.8C>T (p.Pro3Leu) rs2141213761
NM_001365088.1(SLC12A6):c.901A>G (p.Ile301Val)
NM_001365088.1(SLC12A6):c.906T>C (p.Phe302=)
NM_001365088.1(SLC12A6):c.90C>T (p.Asp30=)
NM_001365088.1(SLC12A6):c.912T>C (p.Ser304=)
NM_001365088.1(SLC12A6):c.919G>A (p.Ala307Thr)
NM_001365088.1(SLC12A6):c.921A>G (p.Ala307=)
NM_001365088.1(SLC12A6):c.922C>G (p.Leu308Val)
NM_001365088.1(SLC12A6):c.92C>G (p.Thr31Ser)
NM_001365088.1(SLC12A6):c.930A>G (p.Glu310=)
NM_001365088.1(SLC12A6):c.935C>G (p.Ala312Gly) rs1892614325
NM_001365088.1(SLC12A6):c.935C>T (p.Ala312Val)
NM_001365088.1(SLC12A6):c.952A>G (p.Met318Val)
NM_001365088.1(SLC12A6):c.956G>A (p.Arg319His) rs369334993
NM_001365088.1(SLC12A6):c.960C>T (p.Val320=)
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter) rs35583475
NM_001365088.1(SLC12A6):c.968C>G (p.Thr323Arg) rs2140719549
NM_001365088.1(SLC12A6):c.978G>T (p.Leu326Phe)
NM_001365088.1(SLC12A6):c.984T>C (p.Leu328=) rs1566815460
NM_001365088.1(SLC12A6):c.986T>C (p.Met329Thr)
NM_001365088.1(SLC12A6):c.987G>A (p.Met329Ile) rs1244690559
NM_001365088.1(SLC12A6):c.995T>C (p.Val332Ala) rs1595439064
NM_133647.2(SLC12A6):c.320_322del rs758672590

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