ClinVar Miner

List of variants studied for Renal carnitine transport defect

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Total variants: 1121
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.*843T>C rs274548 0.74357
NM_003060.4(SLC22A5):c.*1340A>T rs274547 0.74351
NM_003060.4(SLC22A5):c.*959_*960insC rs144261584 0.73243
NM_003060.4(SLC22A5):c.-207C>G rs2631367 0.58257
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.652+77A>G rs274559 0.39418
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_003060.4(SLC22A5):c.394-296C>T rs2073642 0.07739
NM_003060.4(SLC22A5):c.-107G>T rs13180186 0.07430
NM_003060.4(SLC22A5):c.-139G>T rs13180169 0.07424
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NC_000005.10:g.132369028T>G rs34786243 0.06993
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_003060.4(SLC22A5):c.1268-34A>G rs11568515 0.03088
NM_003060.4(SLC22A5):c.1587-38A>C rs11568523 0.03088
NM_003060.4(SLC22A5):c.393+17G>A rs11568522 0.02888
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.*1179G>T rs79274129 0.02344
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_003060.4(SLC22A5):c.-319C>A rs60978556 0.00870
NM_003060.4(SLC22A5):c.-118G>A rs538643468 0.00702
NM_003060.4(SLC22A5):c.*959A>C rs14701 0.00632
NM_003060.4(SLC22A5):c.1451-16G>A rs140988771 0.00371
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414 0.00365
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613 0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131 0.00335
NM_003060.4(SLC22A5):c.*1062G>A rs138469584 0.00325
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=) rs140495935 0.00202
NM_003060.4(SLC22A5):c.-234C>G rs4646300 0.00165
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997 0.00079
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427 0.00063
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr) rs149730454 0.00056
NM_003060.4(SLC22A5):c.75C>T (p.Leu25=) rs144054688 0.00054
NM_003060.4(SLC22A5):c.1341C>T (p.Tyr447=) rs58188318 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_003060.4(SLC22A5):c.*637T>C rs1050858831 0.00034
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_003060.4(SLC22A5):c.-26G>A rs369724970 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003060.4(SLC22A5):c.798G>A (p.Pro266=) rs143758508 0.00022
NM_003060.4(SLC22A5):c.1053-3C>T rs149201271 0.00021
NM_003060.4(SLC22A5):c.*1244C>T rs184494469 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=) rs146185976 0.00017
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala) rs544332057 0.00016
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met) rs201262157 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_003060.4(SLC22A5):c.952-14T>C rs373018486 0.00011
NM_003060.4(SLC22A5):c.*1214G>A rs529124788 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_003060.4(SLC22A5):c.498-8C>T rs370645111 0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_003060.4(SLC22A5):c.777G>T (p.Leu259=) rs370175430 0.00009
NM_003060.4(SLC22A5):c.93C>T (p.Pro31=) rs375293546 0.00009
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg) rs28383482 0.00008
NM_003060.4(SLC22A5):c.1586G>T (p.Gly529Val) rs201307440 0.00008
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=) rs780429964 0.00007
NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala) rs753268767 0.00007
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn) rs577131769 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val) rs371692440 0.00007
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003060.4(SLC22A5):c.570G>A (p.Ser190=) rs561032476 0.00006
NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln) rs148989838 0.00006
NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln) rs757199947 0.00005
NM_003060.4(SLC22A5):c.1458C>T (p.Tyr486=) rs763224132 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003060.4(SLC22A5):c.*74G>A rs565654675 0.00004
NM_003060.4(SLC22A5):c.-30G>C rs758034537 0.00004
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=) rs758572818 0.00004
NM_003060.4(SLC22A5):c.1053-10T>C rs377069432 0.00004
NM_003060.4(SLC22A5):c.1086G>A (p.Ser362=) rs764371993 0.00004
NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=) rs1012487647 0.00004
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508 0.00004
NM_003060.4(SLC22A5):c.1140G>A (p.Ala380=) rs375679167 0.00004
NM_003060.4(SLC22A5):c.1296G>C (p.Val432=) rs755533900 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_003060.4(SLC22A5):c.1450+18A>G rs11568516 0.00004
NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr) rs145147616 0.00004
NM_003060.4(SLC22A5):c.1547C>G (p.Pro516Arg) rs563142575 0.00004
NM_003060.4(SLC22A5):c.1587-15T>A rs762259659 0.00004
NM_003060.4(SLC22A5):c.1631A>T (p.Asp544Val) rs764068991 0.00004
NM_003060.4(SLC22A5):c.246C>T (p.Arg82=) rs377767448 0.00004
NM_003060.4(SLC22A5):c.498-3C>T rs1483610184 0.00004
NM_003060.4(SLC22A5):c.591C>T (p.Val197=) rs113656768 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 0.00004
NM_003060.4(SLC22A5):c.*5G>A rs554373076 0.00003
NM_003060.4(SLC22A5):c.1007G>A (p.Arg336Gln) rs759529143 0.00003
NM_003060.4(SLC22A5):c.1053-14G>A rs779432700 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter) rs72552731 0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp) rs200125400 0.00003
NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val) rs780591287 0.00003
NM_003060.4(SLC22A5):c.1267+5G>A rs367638878 0.00003
NM_003060.4(SLC22A5):c.1271T>C (p.Leu424Ser) rs184618759 0.00003
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr) rs1266620798 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.133A>G (p.Thr45Ala) rs376438682 0.00003
NM_003060.4(SLC22A5):c.1468C>T (p.Leu490=) rs1580895743 0.00003
NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=) rs370593952 0.00003
NM_003060.4(SLC22A5):c.1548A>G (p.Pro516=) rs1253149319 0.00003
NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala) rs768925240 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.312C>T (p.Asp104=) rs895049211 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr) rs761866020 0.00003
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg) rs200290813 0.00003
NM_003060.4(SLC22A5):c.592G>A (p.Val198Met) rs757979350 0.00003
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=) rs748677211 0.00003
NM_003060.4(SLC22A5):c.843C>T (p.Pro281=) rs764544978 0.00003
NM_003060.4(SLC22A5):c.1053-19C>A rs372778184 0.00002
NM_003060.4(SLC22A5):c.1185A>G (p.Gln395=) rs916795176 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln) rs121908891 0.00002
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His) rs371219688 0.00002
NM_003060.4(SLC22A5):c.1258G>C (p.Val420Leu) rs535222699 0.00002
NM_003060.4(SLC22A5):c.1267+20A>G rs372336902 0.00002
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe) rs778716973 0.00002
NM_003060.4(SLC22A5):c.1533G>C (p.Glu511Asp) rs748111365 0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=) rs1226557478 0.00002
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp) rs753453677 0.00002
NM_003060.4(SLC22A5):c.306C>T (p.Asp102=) rs1751854895 0.00002
NM_003060.4(SLC22A5):c.368T>G (p.Val123Gly) rs748605096 0.00002
NM_003060.4(SLC22A5):c.393+8C>T rs1481183476 0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=) rs145350949 0.00002
NM_003060.4(SLC22A5):c.573G>T (p.Lys191Asn) rs765204844 0.00002
NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg) rs747050292 0.00002
NM_003060.4(SLC22A5):c.810C>T (p.Cys270=) rs200046767 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe) rs1489260087 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003060.4(SLC22A5):c.878C>T (p.Ala293Val) rs893286644 0.00002
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=) rs1431971523 0.00002
NM_003060.4(SLC22A5):c.*322C>A rs1220869401 0.00001
NM_003060.4(SLC22A5):c.*484G>A rs760545883 0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter) rs754008420 0.00001
NM_003060.4(SLC22A5):c.1021C>T (p.Arg341Trp) rs780990156 0.00001
NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg) rs1275349783 0.00001
NM_003060.4(SLC22A5):c.105C>T (p.Thr35=) rs765461422 0.00001
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn) rs61731073 0.00001
NM_003060.4(SLC22A5):c.1073A>C (p.Tyr358Ser) rs1266953756 0.00001
NM_003060.4(SLC22A5):c.1116C>G (p.Ile372Met) rs753461448 0.00001
NM_003060.4(SLC22A5):c.111G>C (p.Leu37=) rs762780354 0.00001
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr) rs369354736 0.00001
NM_003060.4(SLC22A5):c.114C>T (p.Ser38=) rs756867867 0.00001
NM_003060.4(SLC22A5):c.1177C>T (p.Leu393=) rs368514254 0.00001
NM_003060.4(SLC22A5):c.117C>T (p.Ser39=) rs201427730 0.00001
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met) rs148657753 0.00001
NM_003060.4(SLC22A5):c.1198C>T (p.Arg400Cys) rs1249681027 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe) rs754913053 0.00001
NM_003060.4(SLC22A5):c.1227G>C (p.Leu409=) rs1346191785 0.00001
NM_003060.4(SLC22A5):c.1228G>A (p.Gly410Ser) rs1331373451 0.00001
NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys) rs1335556134 0.00001
NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly) rs1224278173 0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs) rs781330134 0.00001
NM_003060.4(SLC22A5):c.1251G>A (p.Met417Ile) rs756473868 0.00001
NM_003060.4(SLC22A5):c.1262C>T (p.Pro421Leu) rs1436718402 0.00001
NM_003060.4(SLC22A5):c.1267+14G>A rs769114259 0.00001
NM_003060.4(SLC22A5):c.1268-20T>A rs1752733205 0.00001
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter) rs72552722 0.00001
NM_003060.4(SLC22A5):c.1310T>C (p.Phe437Ser) rs1335183542 0.00001
NM_003060.4(SLC22A5):c.1320G>A (p.Thr440=) rs747285272 0.00001
NM_003060.4(SLC22A5):c.1332C>T (p.Ser444=) rs769918856 0.00001
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe) rs72552733 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_003060.4(SLC22A5):c.1342G>A (p.Val448Met) rs386134219 0.00001
NM_003060.4(SLC22A5):c.1353C>T (p.Ala451=) rs374662740 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1359G>A (p.Leu453=) rs1168638815 0.00001
NM_003060.4(SLC22A5):c.135C>G (p.Thr45=) rs202000855 0.00001
NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His) rs766555353 0.00001
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg) rs1408166345 0.00001
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu) rs377767445 0.00001
NM_003060.4(SLC22A5):c.1394T>G (p.Val465Gly) rs917270911 0.00001
NM_003060.4(SLC22A5):c.1395C>G (p.Val465=) rs781562637 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys) rs749282641 0.00001
NM_003060.4(SLC22A5):c.1412G>T (p.Arg471Leu) rs386134223 0.00001
NM_003060.4(SLC22A5):c.144C>T (p.His48=) rs745897099 0.00001
NM_003060.4(SLC22A5):c.1450+10A>G rs1487082253 0.00001
NM_003060.4(SLC22A5):c.1450+7C>A rs1223468160 0.00001
NM_003060.4(SLC22A5):c.1451-17C>T rs771588323 0.00001
NM_003060.4(SLC22A5):c.147C>T (p.Arg49=) rs1461536917 0.00001
NM_003060.4(SLC22A5):c.1483A>G (p.Met495Val) rs1023956374 0.00001
NM_003060.4(SLC22A5):c.150C>T (p.Cys50=) rs974348546 0.00001
NM_003060.4(SLC22A5):c.1510A>G (p.Ile504Val) rs1417574754 0.00001
NM_003060.4(SLC22A5):c.1515C>T (p.Leu505=) rs780129415 0.00001
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser) rs1157198543 0.00001
NM_003060.4(SLC22A5):c.153G>A (p.Arg51=) rs1330041441 0.00001
NM_003060.4(SLC22A5):c.1540G>A (p.Gly514Ser) rs551153027 0.00001
NM_003060.4(SLC22A5):c.1545C>G (p.Thr515=) rs1256876367 0.00001
NM_003060.4(SLC22A5):c.1563T>C (p.Ile521=) rs1325105843 0.00001
NM_003060.4(SLC22A5):c.1578A>G (p.Arg526=) rs1554088590 0.00001
NM_003060.4(SLC22A5):c.1587-1G>C rs766398620 0.00001
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu) rs758158685 0.00001
NM_003060.4(SLC22A5):c.163G>A (p.Ala55Thr) rs1356287812 0.00001
NM_003060.4(SLC22A5):c.1641A>C (p.Glu547Asp) rs1485984674 0.00001
NM_003060.4(SLC22A5):c.1651A>G (p.Ile551Val) rs745329092 0.00001
NM_003060.4(SLC22A5):c.171C>G (p.Asn57Lys) rs1354240252 0.00001
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile) rs1169005119 0.00001
NM_003060.4(SLC22A5):c.207G>A (p.Leu69=) rs377767446 0.00001
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His) rs778137386 0.00001
NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp) rs1031179639 0.00001
NM_003060.4(SLC22A5):c.224G>C (p.Arg75Pro) rs757711838 0.00001
NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser) rs955061461 0.00001
NM_003060.4(SLC22A5):c.244C>T (p.Arg82Cys) rs955061461 0.00001
NM_003060.4(SLC22A5):c.24C>A (p.Thr8=) rs766678115 0.00001
NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln) rs761608940 0.00001
NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val) rs753998904 0.00001
NM_003060.4(SLC22A5):c.28T>C (p.Phe10Leu) rs759420042 0.00001
NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg) rs779263168 0.00001
NM_003060.4(SLC22A5):c.300G>A (p.Gly100=) rs552442289 0.00001
NM_003060.4(SLC22A5):c.303C>T (p.Arg101=) rs1368157214 0.00001
NM_003060.4(SLC22A5):c.30C>T (p.Phe10=) rs574313463 0.00001
NM_003060.4(SLC22A5):c.315G>C (p.Leu105=) rs1012140520 0.00001
NM_003060.4(SLC22A5):c.318G>A (p.Gly106=) rs1214969369 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg) rs398123692 0.00001
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His) rs758991830 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003060.4(SLC22A5):c.382A>G (p.Ile128Val) rs772405276 0.00001
NM_003060.4(SLC22A5):c.391G>A (p.Glu131Lys) rs1321705165 0.00001
NM_003060.4(SLC22A5):c.393+10G>A rs1365783263 0.00001
NM_003060.4(SLC22A5):c.394-10C>T rs748687943 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.394-2A>C rs377724489 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.397A>C (p.Asn133His) rs1268928609 0.00001
NM_003060.4(SLC22A5):c.399C>T (p.Asn133=) rs1027119483 0.00001
NM_003060.4(SLC22A5):c.405G>A (p.Val135=) rs777083211 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys) rs796052036 0.00001
NM_003060.4(SLC22A5):c.450C>T (p.Phe150=) rs756089971 0.00001
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417 0.00001
NM_003060.4(SLC22A5):c.462G>A (p.Leu154=) rs771808266 0.00001
NM_003060.4(SLC22A5):c.463T>C (p.Leu155=) rs777136671 0.00001
NM_003060.4(SLC22A5):c.497+19G>A rs764058694 0.00001
NM_003060.4(SLC22A5):c.497+9T>C rs969798244 0.00001
NM_003060.4(SLC22A5):c.498-1G>C rs747592919 0.00001
NM_003060.4(SLC22A5):c.498-4C>A rs778593047 0.00001
NM_003060.4(SLC22A5):c.546C>T (p.Gly182=) rs1329903175 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003060.4(SLC22A5):c.569C>T (p.Ser190Leu) rs766106506 0.00001
NM_003060.4(SLC22A5):c.583A>G (p.Met195Val) rs1194966941 0.00001
NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu) rs1322301830 0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr) rs749602236 0.00001
NM_003060.4(SLC22A5):c.63C>T (p.Ile21=) rs769437903 0.00001
NM_003060.4(SLC22A5):c.652+1G>A rs386134200 0.00001
NM_003060.4(SLC22A5):c.652+3A>G rs774833531 0.00001
NM_003060.4(SLC22A5):c.677T>A (p.Val226Asp) rs373199019 0.00001
NM_003060.4(SLC22A5):c.679C>T (p.Arg227Cys) rs546902674 0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu) rs756650860 0.00001
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala) rs188698686 0.00001
NM_003060.4(SLC22A5):c.717T>C (p.Tyr239=) rs1370546808 0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs) rs775502377 0.00001
NM_003060.4(SLC22A5):c.747T>C (p.Phe249=) rs746473075 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val) rs752989096 0.00001
NM_003060.4(SLC22A5):c.786G>A (p.Ala262=) rs758916243 0.00001
NM_003060.4(SLC22A5):c.792G>A (p.Thr264=) rs771014732 0.00001
NM_003060.4(SLC22A5):c.797C>G (p.Pro266Arg) rs538372785 0.00001
NM_003060.4(SLC22A5):c.801G>A (p.Gly267=) rs554745191 0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs) rs386134204 0.00001
NM_003060.4(SLC22A5):c.825-10G>A rs766084888 0.00001
NM_003060.4(SLC22A5):c.825G>T (p.Trp275Cys) rs386134207 0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe) rs386134208 0.00001
NM_003060.4(SLC22A5):c.845dup (p.Trp283fs) rs1580888136 0.00001
NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg) rs72552729 0.00001
NM_003060.4(SLC22A5):c.850C>T (p.Leu284Phe) rs150278881 0.00001
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter) rs931801909 0.00001
NM_003060.4(SLC22A5):c.911A>G (p.Asn304Ser) rs746559733 0.00001
NM_003060.4(SLC22A5):c.926C>T (p.Pro309Leu) rs1252043783 0.00001
NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser) rs770408585 0.00001
NM_003060.4(SLC22A5):c.942C>T (p.Asp314=) rs1752560559 0.00001
NM_003060.4(SLC22A5):c.944C>T (p.Pro315Leu) rs200697217 0.00001
NM_003060.4(SLC22A5):c.945G>A (p.Pro315=) rs764733247 0.00001
NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys) rs774792831 0.00001
NM_003060.4(SLC22A5):c.951+10_951+15del rs769613982 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val) rs761264590 0.00001
NC_000005.10:g.(?_132368084)_(132370375_?)del
NC_000005.10:g.(?_132384127)_(132392635_?)del
NC_000005.9:g.(?_130497712)_(131729974_?)del
NC_000005.9:g.(?_131436897)_(131729974_?)del
NC_000005.9:g.(?_131705516)_(131729964_?)del
NC_000005.9:g.(?_131713846)_(131714183_?)del
NC_000005.9:g.(?_131713846)_(131720003_?)del
NC_000005.9:g.(?_131719829)_(131728317_?)del
NC_000005.9:g.(?_131722697)_(131724733_?)del
NC_000005.9:g.(?_131726362)_(131729964_?)dup
NM_003060.2:c.33_1427del
NM_003060.3:c.654_825del
NM_003060.4(SLC22A5):c.*1020C>G rs886059915
NM_003060.4(SLC22A5):c.*1142C>T rs62385689
NM_003060.4(SLC22A5):c.*17G>A rs773583158
NM_003060.4(SLC22A5):c.*195G>T rs886059910
NM_003060.4(SLC22A5):c.*196A>T rs557809028
NM_003060.4(SLC22A5):c.*417T>A rs886059911
NM_003060.4(SLC22A5):c.*424T>C rs886059912
NM_003060.4(SLC22A5):c.*654G>C rs886059913
NM_003060.4(SLC22A5):c.*678G>T rs148673968
NM_003060.4(SLC22A5):c.*705A>G rs974114194
NM_003060.4(SLC22A5):c.*92del rs142209594
NM_003060.4(SLC22A5):c.*956_*957insTA rs746348980
NM_003060.4(SLC22A5):c.*957A>T rs200950736
NM_003060.4(SLC22A5):c.*960dup rs869272980
NM_003060.4(SLC22A5):c.-129_-102del rs1279199437
NM_003060.4(SLC22A5):c.-131A>C rs1554085854
NM_003060.4(SLC22A5):c.-206A>C rs1751805896
NM_003060.4(SLC22A5):c.-231G>C rs1751803560
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs) rs1554085861
NM_003060.4(SLC22A5):c.1000C>G (p.Leu334Val)
NM_003060.4(SLC22A5):c.1006C>A (p.Arg336=)
NM_003060.4(SLC22A5):c.1011C>T (p.Thr337=)
NM_003060.4(SLC22A5):c.1014G>A (p.Trp338Ter)
NM_003060.4(SLC22A5):c.1016A>G (p.Asn339Ser)
NM_003060.4(SLC22A5):c.1018A>T (p.Ile340Phe)
NM_003060.4(SLC22A5):c.1023G>A (p.Arg341=)
NM_003060.4(SLC22A5):c.1032dup (p.Ile345fs)
NM_003060.4(SLC22A5):c.1035C>G (p.Ile345Met)
NM_003060.4(SLC22A5):c.1035C>T (p.Ile345=) rs780982778
NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val) rs745453534
NM_003060.4(SLC22A5):c.1037T>C (p.Met346Thr)
NM_003060.4(SLC22A5):c.103A>G (p.Thr35Ala)
NM_003060.4(SLC22A5):c.1041C>T (p.Ser347=)
NM_003060.4(SLC22A5):c.1043T>A (p.Ile348Lys) rs150544263
NM_003060.4(SLC22A5):c.1044A>G (p.Ile348Met)
NM_003060.4(SLC22A5):c.1046T>C (p.Met349Thr) rs1280789093
NM_003060.4(SLC22A5):c.104C>G (p.Thr35Ser)
NM_003060.4(SLC22A5):c.104C>T (p.Thr35Ile) rs759704527
NM_003060.4(SLC22A5):c.104_153delinsATGGTATGTCAGTCGTGTTCCTGGCGGGGACCCCGGAGCACCGCTGTCGA (p.Thr35_Ala44delinsAsnGlyMetSerValValPheLeuAlaGly)
NM_003060.4(SLC22A5):c.1050G>A (p.Leu350=)
NM_003060.4(SLC22A5):c.1051T>C (p.Trp351Arg) rs68018207
NM_003060.4(SLC22A5):c.1052+10A>G
NM_003060.4(SLC22A5):c.1052+11G>T
NM_003060.4(SLC22A5):c.1052+1G>T rs1554087949
NM_003060.4(SLC22A5):c.1052+3A>G rs2126788177
NM_003060.4(SLC22A5):c.1052+5G>A rs927950152
NM_003060.4(SLC22A5):c.1053-11C>G
NM_003060.4(SLC22A5):c.1053-12A>G
NM_003060.4(SLC22A5):c.1053-13_1053-7del
NM_003060.4(SLC22A5):c.1053-16C>A
NM_003060.4(SLC22A5):c.1053-17T>C
NM_003060.4(SLC22A5):c.1053-17T>G
NM_003060.4(SLC22A5):c.1053-19C>T
NM_003060.4(SLC22A5):c.1053-20T>C
NM_003060.4(SLC22A5):c.1053-6T>C rs1752665099
NM_003060.4(SLC22A5):c.1053-7G>A rs747417349
NM_003060.4(SLC22A5):c.1053-7G>T
NM_003060.4(SLC22A5):c.1053-7_1053-6del
NM_003060.4(SLC22A5):c.1055T>C (p.Met352Thr)
NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val) rs1166753949
NM_003060.4(SLC22A5):c.1060dup (p.Ile354fs) rs1752666026
NM_003060.4(SLC22A5):c.1062A>G (p.Ile354Met) rs2126789583
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)
NM_003060.4(SLC22A5):c.1074T>G (p.Tyr358Ter)
NM_003060.4(SLC22A5):c.1076T>C (p.Phe359Ser)
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) rs896634334
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=) rs139508856
NM_003060.4(SLC22A5):c.1080G>T (p.Gly360=) rs139508856
NM_003060.4(SLC22A5):c.1080_1081delinsTA (p.Leu361Ile) rs1580892228
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs) rs1580892239
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1088T>A (p.Leu363His) rs386134214
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro) rs386134214
NM_003060.4(SLC22A5):c.108C>T (p.Gly36=)
NM_003060.4(SLC22A5):c.1090del (p.Asp364fs)
NM_003060.4(SLC22A5):c.1096C>T (p.Pro366Ser) rs767240544
NM_003060.4(SLC22A5):c.1099A>G (p.Asn367Asp)
NM_003060.4(SLC22A5):c.109C>G (p.Leu37Val) rs796052037
NM_003060.4(SLC22A5):c.1106A>C (p.His369Pro)
NM_003060.4(SLC22A5):c.1107T>C (p.His369=) rs1580892312
NM_003060.4(SLC22A5):c.1109G>A (p.Gly370Glu) rs2126789674
NM_003060.4(SLC22A5):c.111G>A (p.Leu37=)
NM_003060.4(SLC22A5):c.1120G>A (p.Val374Met) rs886059909
NM_003060.4(SLC22A5):c.1127_1130del (p.Cys376fs)
NM_003060.4(SLC22A5):c.112T>A (p.Ser38Thr)
NM_003060.4(SLC22A5):c.1131C>T (p.Phe377=) rs2126789694
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
NM_003060.4(SLC22A5):c.113C>G (p.Ser38Cys)
NM_003060.4(SLC22A5):c.1140G>C (p.Ala380=)
NM_003060.4(SLC22A5):c.1140G>T (p.Ala380=)
NM_003060.4(SLC22A5):c.1146T>C (p.Val382=) rs1405950971
NM_003060.4(SLC22A5):c.1146T>G (p.Val382=)
NM_003060.4(SLC22A5):c.1147G>T (p.Glu383Ter)
NM_003060.4(SLC22A5):c.1149A>G (p.Glu383=) rs1450996221
NM_003060.4(SLC22A5):c.114C>G (p.Ser38=) rs756867867
NM_003060.4(SLC22A5):c.1150G>A (p.Val384Ile)
NM_003060.4(SLC22A5):c.1152C>T (p.Val384=)
NM_003060.4(SLC22A5):c.1155A>G (p.Pro385=)
NM_003060.4(SLC22A5):c.1158A>G (p.Ala386=)
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs) rs1580892402
NM_003060.4(SLC22A5):c.1159T>C (p.Tyr387His) rs2126789736
NM_003060.4(SLC22A5):c.1164G>A (p.Val388=) rs1752671285
NM_003060.4(SLC22A5):c.1168G>A (p.Ala390Thr)
NM_003060.4(SLC22A5):c.1169C>G (p.Ala390Gly) rs1752671467
NM_003060.4(SLC22A5):c.1170C>G (p.Ala390=) rs774368158
NM_003060.4(SLC22A5):c.1172G>A (p.Trp391Ter) rs1554088165
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1182G>A (p.Leu394=) rs2126789783
NM_003060.4(SLC22A5):c.1188T>G (p.Tyr396Ter) rs1057519051
NM_003060.4(SLC22A5):c.1195del (p.Arg399fs)
NM_003060.4(SLC22A5):c.119T>A (p.Val40Glu) rs1561560593
NM_003060.4(SLC22A5):c.1205C>G (p.Ser402Cys)
NM_003060.4(SLC22A5):c.1207A>G (p.Met403Val) rs2126789830
NM_003060.4(SLC22A5):c.120G>A (p.Val40=)
NM_003060.4(SLC22A5):c.1212C>T (p.Ala404=)
NM_003060.4(SLC22A5):c.1218C>T (p.Ala406=)
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) rs573330330
NM_003060.4(SLC22A5):c.1225C>T (p.Leu409=)
NM_003060.4(SLC22A5):c.1227G>T (p.Leu409=)
NM_003060.4(SLC22A5):c.1232G>T (p.Gly411Val)
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg) rs1057518364
NM_003060.4(SLC22A5):c.1235G>A (p.Ser412Asn) rs2126789869
NM_003060.4(SLC22A5):c.1238T>C (p.Val413Ala)
NM_003060.4(SLC22A5):c.1239C>T (p.Val413=)
NM_003060.4(SLC22A5):c.123C>G (p.Phe41Leu) rs2126764960
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs) rs2126789878
NM_003060.4(SLC22A5):c.1242T>C (p.Leu414=)
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1255C>T (p.Leu419=) rs780591287
NM_003060.4(SLC22A5):c.1258del (p.Val420fs)
NM_003060.4(SLC22A5):c.1264_1265dup (p.Asp423fs)
NM_003060.4(SLC22A5):c.1267+12G>A
NM_003060.4(SLC22A5):c.1267+14G>C
NM_003060.4(SLC22A5):c.1267+16A>C rs2126789947
NM_003060.4(SLC22A5):c.1267+1G>A rs1554088200
NM_003060.4(SLC22A5):c.1267+3_1267+24del rs1554088199
NM_003060.4(SLC22A5):c.1267+9C>T
NM_003060.4(SLC22A5):c.1268-15C>A
NM_003060.4(SLC22A5):c.1268-16del
NM_003060.4(SLC22A5):c.1268-19C>T
NM_003060.4(SLC22A5):c.1268-2A>G
NM_003060.4(SLC22A5):c.1268-38del rs11568517
NM_003060.4(SLC22A5):c.1268-4C>T rs2126791278
NM_003060.4(SLC22A5):c.1268-9C>A
NM_003060.4(SLC22A5):c.1268-9C>T rs1183308619
NM_003060.4(SLC22A5):c.126G>T (p.Leu42=) rs2126764965
NM_003060.4(SLC22A5):c.1286C>T (p.Thr429Ile)
NM_003060.4(SLC22A5):c.1289del (p.Val430fs) rs2126791314
NM_003060.4(SLC22A5):c.1290C>T (p.Val430=)
NM_003060.4(SLC22A5):c.1293G>A (p.Leu431=) rs1580894161
NM_003060.4(SLC22A5):c.1294G>C (p.Val432Leu)
NM_003060.4(SLC22A5):c.1295T>C (p.Val432Ala) rs1172191328
NM_003060.4(SLC22A5):c.1296G>A (p.Val432=)
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr) rs779385095
NM_003060.4(SLC22A5):c.1299G>A (p.Met433Ile)
NM_003060.4(SLC22A5):c.1300G>C (p.Val434Leu)
NM_003060.4(SLC22A5):c.1303G>A (p.Gly435Ser)
NM_003060.4(SLC22A5):c.1304del (p.Gly435fs) rs386134217
NM_003060.4(SLC22A5):c.1313G>A (p.Gly438Glu) rs1580894230
NM_003060.4(SLC22A5):c.131C>A (p.Ala44Glu)
NM_003060.4(SLC22A5):c.131C>G (p.Ala44Gly)
NM_003060.4(SLC22A5):c.1323T>C (p.Ala441=)
NM_003060.4(SLC22A5):c.1324G>A (p.Ala442Thr)
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1326C>T (p.Ala442=)
NM_003060.4(SLC22A5):c.1327T>C (p.Phe443Leu) rs1580894264
NM_003060.4(SLC22A5):c.132G>A (p.Ala44=)
NM_003060.4(SLC22A5):c.132G>C (p.Ala44=)
NM_003060.4(SLC22A5):c.1331C>G (p.Ser444Cys)
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.1347C>A (p.Tyr449Ter) rs2126791445
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
NM_003060.4(SLC22A5):c.134C>A (p.Thr45Asn)
NM_003060.4(SLC22A5):c.1350A>G (p.Thr450=) rs1752737905
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs) rs2126791456
NM_003060.4(SLC22A5):c.1357C>T (p.Leu453=) rs1752738264
NM_003060.4(SLC22A5):c.135C>A (p.Thr45=) rs202000855
NM_003060.4(SLC22A5):c.135C>T (p.Thr45=) rs202000855
NM_003060.4(SLC22A5):c.1361A>T (p.Tyr454Phe)
NM_003060.4(SLC22A5):c.1363C>A (p.Pro455Thr) rs1326829327
NM_003060.4(SLC22A5):c.1365dup (p.Thr456fs) rs878853248
NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala) rs202088921
NM_003060.4(SLC22A5):c.136_137dup (p.Glu47fs)
NM_003060.4(SLC22A5):c.137del (p.Pro46fs) rs762986044
NM_003060.4(SLC22A5):c.1380C>A (p.Asn460Lys)
NM_003060.4(SLC22A5):c.1384G>A (p.Gly462Ser) rs1193551446
NM_003060.4(SLC22A5):c.1385G>A (p.Gly462Asp) rs2126791535
NM_003060.4(SLC22A5):c.1386T>C (p.Gly462=) rs757611449
NM_003060.4(SLC22A5):c.1387G>T (p.Val463Leu) rs2126791543
NM_003060.4(SLC22A5):c.138G>A (p.Pro46=) rs895093633
NM_003060.4(SLC22A5):c.1390G>A (p.Gly464Arg)
NM_003060.4(SLC22A5):c.1391G>A (p.Gly464Glu) rs1752740146
NM_003060.4(SLC22A5):c.1392A>G (p.Gly464=)
NM_003060.4(SLC22A5):c.1392_1409del (p.Val465_Ser470del)
NM_003060.4(SLC22A5):c.1397G>C (p.Ser466Thr) rs2126791559
NM_003060.4(SLC22A5):c.1399T>C (p.Ser467Pro)
NM_003060.4(SLC22A5):c.13del (p.Asp5fs) rs1554085892
NM_003060.4(SLC22A5):c.1401C>T (p.Ser467=) rs1449055165
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1409C>A (p.Ser470Tyr)
NM_003060.4(SLC22A5):c.140A>T (p.Glu47Val)
NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser) rs749282641
NM_003060.4(SLC22A5):c.1411_1426dup (p.Leu476fs)
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro) rs386134223
NM_003060.4(SLC22A5):c.1419C>A (p.Gly473=) rs1752741619
NM_003060.4(SLC22A5):c.141G>A (p.Glu47=)
NM_003060.4(SLC22A5):c.1425C>T (p.Ile475=)
NM_003060.4(SLC22A5):c.1428G>A (p.Leu476=)
NM_003060.4(SLC22A5):c.1430C>T (p.Ser477Phe)
NM_003060.4(SLC22A5):c.1432C>T (p.Pro478Ser) rs2126791630
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu) rs72552735
NM_003060.4(SLC22A5):c.1436A>G (p.Tyr479Cys) rs977041272
NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=) rs761305616
NM_003060.4(SLC22A5):c.1440C>G (p.Phe480Leu) rs150457229
NM_003060.4(SLC22A5):c.1441G>T (p.Val481Phe) rs11568513
NM_003060.4(SLC22A5):c.1446C>G (p.Tyr482Ter) rs569268772
NM_003060.4(SLC22A5):c.1446C>T (p.Tyr482=)
NM_003060.4(SLC22A5):c.1450+1G>A
NM_003060.4(SLC22A5):c.1450+20G>A
NM_003060.4(SLC22A5):c.1450+5G>A rs1752743445
NM_003060.4(SLC22A5):c.1450+7C>T
NM_003060.4(SLC22A5):c.1450+8C>A rs1261757663
NM_003060.4(SLC22A5):c.1450+8C>G
NM_003060.4(SLC22A5):c.1451-10T>G rs2126792599
NM_003060.4(SLC22A5):c.1451-11C>G
NM_003060.4(SLC22A5):c.1451-18C>G
NM_003060.4(SLC22A5):c.1451-1G>A rs386134224
NM_003060.4(SLC22A5):c.1451-2A>G
NM_003060.4(SLC22A5):c.1451-3T>A rs760324689
NM_003060.4(SLC22A5):c.1451-4A>G
NM_003060.4(SLC22A5):c.1451-5C>T
NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp) rs28383480
NM_003060.4(SLC22A5):c.1452T>G (p.Gly484=) rs2126792615
NM_003060.4(SLC22A5):c.1455dup (p.Tyr486fs) rs1057517306
NM_003060.4(SLC22A5):c.1457A>G (p.Tyr486Cys)
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter) rs763224132
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter) rs763224132
NM_003060.4(SLC22A5):c.1459G>A (p.Asp487Asn) rs1752782020
NM_003060.4(SLC22A5):c.1461C>T (p.Asp487=)
NM_003060.4(SLC22A5):c.1462C>G (p.Arg488Gly)
NM_003060.4(SLC22A5):c.1462del (p.Arg488fs)
NM_003060.4(SLC22A5):c.1467C>T (p.Phe489=)
NM_003060.4(SLC22A5):c.1475A>G (p.Tyr492Cys) rs1413377442
NM_003060.4(SLC22A5):c.1477A>C (p.Ile493Leu) rs2126792661
NM_003060.4(SLC22A5):c.1477dup (p.Ile493fs)
NM_003060.4(SLC22A5):c.1482C>T (p.Leu494=) rs771112492
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1492C>A (p.Leu498Met) rs183379391
NM_003060.4(SLC22A5):c.1494G>A (p.Leu498=) rs2126792684
NM_003060.4(SLC22A5):c.1497C>G (p.Thr499=)
NM_003060.4(SLC22A5):c.1500C>A (p.Ile500=) rs1182348785
NM_003060.4(SLC22A5):c.1501C>T (p.Leu501=) rs1476878301
NM_003060.4(SLC22A5):c.1505C>T (p.Thr502Ile)
NM_003060.4(SLC22A5):c.1506A>G (p.Thr502=) rs2126792698
NM_003060.4(SLC22A5):c.150C>G (p.Cys50Trp)
NM_003060.4(SLC22A5):c.1512C>T (p.Ile504=) rs2126792708
NM_003060.4(SLC22A5):c.1516A>T (p.Thr506Ser) rs1752784173
NM_003060.4(SLC22A5):c.1517C>T (p.Thr506Ile) rs753704081
NM_003060.4(SLC22A5):c.1519T>G (p.Leu507Val)
NM_003060.4(SLC22A5):c.1521G>A (p.Leu507=) rs778716973
NM_003060.4(SLC22A5):c.1522T>C (p.Phe508Leu)
NM_003060.4(SLC22A5):c.1527C>A (p.Leu509=)
NM_003060.4(SLC22A5):c.152G>A (p.Arg51Gln)
NM_003060.4(SLC22A5):c.1531G>C (p.Glu511Gln)
NM_003060.4(SLC22A5):c.1533G>A (p.Glu511=) rs748111365
NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly)
NM_003060.4(SLC22A5):c.1536C>T (p.Ser512=)
NM_003060.4(SLC22A5):c.1537T>A (p.Phe513Ile) rs1752785458
NM_003060.4(SLC22A5):c.153G>C (p.Arg51=)
NM_003060.4(SLC22A5):c.153G>T (p.Arg51=) rs1330041441
NM_003060.4(SLC22A5):c.1541G>A (p.Gly514Asp)
NM_003060.4(SLC22A5):c.1547C>T (p.Pro516Leu) rs563142575
NM_003060.4(SLC22A5):c.1547del (p.Pro516fs) rs761090705
NM_003060.4(SLC22A5):c.1549C>T (p.Leu517Phe)
NM_003060.4(SLC22A5):c.1551C>G (p.Leu517=) rs763424726
NM_003060.4(SLC22A5):c.1552C>T (p.Pro518Ser) rs768925240
NM_003060.4(SLC22A5):c.1554A>G (p.Pro518=)
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs) rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.1562T>C (p.Ile521Thr) rs1752787157
NM_003060.4(SLC22A5):c.1566C>T (p.Asp522=)
NM_003060.4(SLC22A5):c.1569G>A (p.Gln523=) rs1462008023
NM_003060.4(SLC22A5):c.1581C>G (p.Val527=)
NM_003060.4(SLC22A5):c.1582A>C (p.Lys528Gln)
NM_003060.4(SLC22A5):c.1582A>T (p.Lys528Ter)
NM_003060.4(SLC22A5):c.1586+11C>T
NM_003060.4(SLC22A5):c.1586+12T>C
NM_003060.4(SLC22A5):c.1586+13C>T rs2126792892
NM_003060.4(SLC22A5):c.1586+14_1586+16del
NM_003060.4(SLC22A5):c.1586+15T>C
NM_003060.4(SLC22A5):c.1586+19T>C
NM_003060.4(SLC22A5):c.1586+1G>A
NM_003060.4(SLC22A5):c.1586+1G>T rs386134226
NM_003060.4(SLC22A5):c.1586+2T>G
NM_003060.4(SLC22A5):c.1586+6A>C
NM_003060.4(SLC22A5):c.1586+9A>C rs1554088592
NM_003060.4(SLC22A5):c.1586G>C (p.Gly529Ala) rs201307440
NM_003060.4(SLC22A5):c.1587-11del
NM_003060.4(SLC22A5):c.1587-12T>C
NM_003060.4(SLC22A5):c.1587-13C>T
NM_003060.4(SLC22A5):c.1587-14G>C
NM_003060.4(SLC22A5):c.1587-18T>G
NM_003060.4(SLC22A5):c.1587-2A>G rs1057516402
NM_003060.4(SLC22A5):c.1587-4A>G
NM_003060.4(SLC22A5):c.1587-6T>C
NM_003060.4(SLC22A5):c.1587-7T>A
NM_003060.4(SLC22A5):c.1587-8T>G
NM_003060.4(SLC22A5):c.1588A>G (p.Met530Val)
NM_003060.4(SLC22A5):c.158C>G (p.Pro53Arg)
NM_003060.4(SLC22A5):c.158C>T (p.Pro53Leu)
NM_003060.4(SLC22A5):c.1594C>T (p.His532Tyr) rs1752801992
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs) rs796052040
NM_003060.4(SLC22A5):c.1596C>A (p.His532Gln) rs1752802142
NM_003060.4(SLC22A5):c.1596C>T (p.His532=) rs1752802142
NM_003060.4(SLC22A5):c.1596_1597del (p.His532fs)
NM_003060.4(SLC22A5):c.1605T>G (p.Thr535=) rs2126793211
NM_003060.4(SLC22A5):c.1609A>G (p.Ser537Gly)
NM_003060.4(SLC22A5):c.160G>A (p.Asp54Asn)
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
NM_003060.4(SLC22A5):c.1614C>T (p.His538=)
NM_003060.4(SLC22A5):c.1620G>A (p.Arg540=) rs2126793240
NM_003060.4(SLC22A5):c.1624T>C (p.Leu542=) rs2126793254
NM_003060.4(SLC22A5):c.162C>T (p.Asp54=)
NM_003060.4(SLC22A5):c.1631A>G (p.Asp544Gly)
NM_003060.4(SLC22A5):c.1632T>C (p.Asp544=)
NM_003060.4(SLC22A5):c.1636C>T (p.Gln546Ter) rs1752804300
NM_003060.4(SLC22A5):c.1638A>G (p.Gln546=)
NM_003060.4(SLC22A5):c.1642A>G (p.Arg548Gly)
NM_003060.4(SLC22A5):c.1644G>A (p.Arg548=) rs2126793283
NM_003060.4(SLC22A5):c.164C>T (p.Ala55Val)
NM_003060.4(SLC22A5):c.1653C>T (p.Ile551=) rs1429160208
NM_003060.4(SLC22A5):c.165C>T (p.Ala55=)
NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly) rs1561577867
NM_003060.4(SLC22A5):c.1662C>T (p.Ser554=)
NM_003060.4(SLC22A5):c.1663A>G (p.Thr555Ala)
NM_003060.4(SLC22A5):c.1665A>T (p.Thr555=) rs1161715534
NM_003060.4(SLC22A5):c.1671C>T (p.Phe557=) rs2126793329
NM_003060.4(SLC22A5):c.1674A>C (p.Ter558Tyr) rs1554088647
NM_003060.4(SLC22A5):c.167C>T (p.Ala56Val) rs2126765106
NM_003060.4(SLC22A5):c.172C>G (p.Leu58Val)
NM_003060.4(SLC22A5):c.176G>A (p.Ser59Asn) rs1482607262
NM_003060.4(SLC22A5):c.177C>G (p.Ser59Arg)
NM_003060.4(SLC22A5):c.182C>T (p.Ala61Val)
NM_003060.4(SLC22A5):c.183C>T (p.Ala61=) rs1226557478
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter) rs1554085942
NM_003060.4(SLC22A5):c.187C>G (p.Arg63Gly) rs1297367229
NM_003060.4(SLC22A5):c.191A>T (p.Asn64Ile)
NM_003060.4(SLC22A5):c.194A>C (p.His65Pro)
NM_003060.4(SLC22A5):c.194A>T (p.His65Leu)
NM_003060.4(SLC22A5):c.195C>T (p.His65=) rs1751841574
NM_003060.4(SLC22A5):c.196A>C (p.Thr66Pro) rs1476076948
NM_003060.4(SLC22A5):c.196A>G (p.Thr66Ala)
NM_003060.4(SLC22A5):c.198T>C (p.Thr66=) rs2126765172
NM_003060.4(SLC22A5):c.1A>G (p.Met1Val) rs774971089
NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu) rs774971089
NM_003060.4(SLC22A5):c.201C>A (p.Val67=)
NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser) rs1045644394
NM_003060.4(SLC22A5):c.204A>G (p.Pro68=)
NM_003060.4(SLC22A5):c.205C>T (p.Leu69=) rs1751843098
NM_003060.4(SLC22A5):c.209_240dup (p.Cys81fs)
NM_003060.4(SLC22A5):c.20_21insCCGGT (p.Thr8fs)
NM_003060.4(SLC22A5):c.210_211delinsAA (p.Leu71Met) rs1751844120
NM_003060.4(SLC22A5):c.211C>T (p.Leu71=) rs977811294
NM_003060.4(SLC22A5):c.212_222dup (p.Arg75fs) rs1751843672
NM_003060.4(SLC22A5):c.215G>A (p.Arg72Gln)
NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro) rs1177265994
NM_003060.4(SLC22A5):c.217G>A (p.Asp73Asn)
NM_003060.4(SLC22A5):c.21G>T (p.Val7=)
NM_003060.4(SLC22A5):c.220G>C (p.Gly74Arg)
NM_003060.4(SLC22A5):c.223C>A (p.Arg75Ser)
NM_003060.4(SLC22A5):c.228G>A (p.Glu76=)
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser) rs1485828747
NM_003060.4(SLC22A5):c.233C>G (p.Pro78Arg) rs1751846688
NM_003060.4(SLC22A5):c.233C>T (p.Pro78Leu) rs1751846688
NM_003060.4(SLC22A5):c.235C>A (p.His79Asn)
NM_003060.4(SLC22A5):c.235del (p.His79fs) rs377767447
NM_003060.4(SLC22A5):c.237C>A (p.His79Gln)
NM_003060.4(SLC22A5):c.23C>T (p.Thr8Ile)
NM_003060.4(SLC22A5):c.242G>A (p.Cys81Tyr) rs1561560884
NM_003060.4(SLC22A5):c.243C>T (p.Cys81=)
NM_003060.4(SLC22A5):c.245G>T (p.Arg82Leu)
NM_003060.4(SLC22A5):c.245_246delinsTT (p.Arg82Leu)
NM_003060.4(SLC22A5):c.247C>T (p.Arg83Cys) rs749499293
NM_003060.4(SLC22A5):c.248G>C (p.Arg83Pro) rs72552726
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.250T>A (p.Tyr84Asn)
NM_003060.4(SLC22A5):c.252C>G (p.Tyr84Ter) rs1253026669
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=) rs1253026669
NM_003060.4(SLC22A5):c.252_265dup (p.Ile89fs) rs1554085973
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.258C>T (p.Leu86=) rs1364454011
NM_003060.4(SLC22A5):c.264C>T (p.Thr88=)
NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val) rs765849408
NM_003060.4(SLC22A5):c.267C>T (p.Ile89=) rs2126765387
NM_003060.4(SLC22A5):c.268G>T (p.Ala90Ser)
NM_003060.4(SLC22A5):c.269C>T (p.Ala90Val)
NM_003060.4(SLC22A5):c.26C>G (p.Ala9Gly)
NM_003060.4(SLC22A5):c.270C>T (p.Ala90=)
NM_003060.4(SLC22A5):c.272A>C (p.Asn91Thr)
NM_003060.4(SLC22A5):c.274T>G (p.Phe92Val)
NM_003060.4(SLC22A5):c.275T>C (p.Phe92Ser)
NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)
NM_003060.4(SLC22A5):c.279G>T (p.Ser93=)
NM_003060.4(SLC22A5):c.27C>T (p.Ala9=)
NM_003060.4(SLC22A5):c.280_283dup (p.Leu95fs)
NM_003060.4(SLC22A5):c.280del (p.Ala94fs)
NM_003060.4(SLC22A5):c.281C>T (p.Ala94Val)
NM_003060.4(SLC22A5):c.283C>G (p.Leu95Val) rs386134191
NM_003060.4(SLC22A5):c.285T>G (p.Leu95=)
NM_003060.4(SLC22A5):c.286G>A (p.Gly96Arg)
NM_003060.4(SLC22A5):c.289C>A (p.Leu97Met)
NM_003060.4(SLC22A5):c.289C>G (p.Leu97Val)
NM_003060.4(SLC22A5):c.292G>A (p.Glu98Lys)
NM_003060.4(SLC22A5):c.295C>T (p.Pro99Ser) rs2126765451
NM_003060.4(SLC22A5):c.296C>T (p.Pro99Leu) rs2126765457
NM_003060.4(SLC22A5):c.29T>A (p.Phe10Tyr) rs1751823291
NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr) rs1554085885
NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg) rs1554085885
NM_003060.4(SLC22A5):c.300G>C (p.Gly100=)
NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)
NM_003060.4(SLC22A5):c.306C>A (p.Asp102Glu) rs1751854895
NM_003060.4(SLC22A5):c.308T>G (p.Val103Gly)
NM_003060.4(SLC22A5):c.313C>T (p.Leu105=) rs1239293137
NM_003060.4(SLC22A5):c.31C>T (p.Leu11=)
NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln) rs1254200528
NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp) rs760680664
NM_003060.4(SLC22A5):c.328C>T (p.Gln110Ter) rs2126765527
NM_003060.4(SLC22A5):c.32T>C (p.Leu11Pro) rs1751823540
NM_003060.4(SLC22A5):c.330G>A (p.Gln110=)
NM_003060.4(SLC22A5):c.333G>A (p.Glu111=) rs1253086449
NM_003060.4(SLC22A5):c.341T>C (p.Leu114Pro)
NM_003060.4(SLC22A5):c.342G>A (p.Leu114=)
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly) rs386134192
NM_003060.4(SLC22A5):c.345T>C (p.Asp115=)
NM_003060.4(SLC22A5):c.34G>C (p.Gly12Arg)
NM_003060.4(SLC22A5):c.350G>A (p.Trp117Ter)
NM_003060.4(SLC22A5):c.352G>T (p.Glu118Ter)
NM_003060.4(SLC22A5):c.354G>A (p.Glu118=)
NM_003060.4(SLC22A5):c.357C>T (p.Phe119=)
NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp) rs886043206
NM_003060.4(SLC22A5):c.35_36delinsAT (p.Gly12Asp)
NM_003060.4(SLC22A5):c.360T>C (p.Ser120=) rs1580868397
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter) rs1554086010
NM_003060.4(SLC22A5):c.363G>A (p.Gln121=) rs758991830
NM_003060.4(SLC22A5):c.366C>G (p.Asp122Glu) rs2126765599
NM_003060.4(SLC22A5):c.366C>T (p.Asp122=)
NM_003060.4(SLC22A5):c.36C>T (p.Gly12=)
NM_003060.4(SLC22A5):c.372C>T (p.Tyr124=)
NM_003060.4(SLC22A5):c.373C>T (p.Leu125=)
NM_003060.4(SLC22A5):c.378C>T (p.Ser126=) rs2126765624
NM_003060.4(SLC22A5):c.37G>A (p.Glu13Lys) rs553647459
NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter) rs553647459
NM_003060.4(SLC22A5):c.381C>T (p.Thr127=) rs1007882103
NM_003060.4(SLC22A5):c.384T>C (p.Ile128=)
NM_003060.4(SLC22A5):c.384dup (p.Val129fs)
NM_003060.4(SLC22A5):c.387G>C (p.Val129=) rs1018330141
NM_003060.4(SLC22A5):c.390C>T (p.Thr130=)
NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter) rs1321705165
NM_003060.4(SLC22A5):c.393+12C>T
NM_003060.4(SLC22A5):c.393+15C>T
NM_003060.4(SLC22A5):c.393+15dup
NM_003060.4(SLC22A5):c.393+17G>T
NM_003060.4(SLC22A5):c.393+1G>A rs1057517069
NM_003060.4(SLC22A5):c.393+5G>A rs1554086029
NM_003060.4(SLC22A5):c.393+7G>T rs2126765681
NM_003060.4(SLC22A5):c.393+9C>T rs1751861935
NM_003060.4(SLC22A5):c.394-11T>C
NM_003060.4(SLC22A5):c.394-11T>G
NM_003060.4(SLC22A5):c.394-12C>T
NM_003060.4(SLC22A5):c.394-141T>C rs1561566541
NM_003060.4(SLC22A5):c.394-151C>G
NM_003060.4(SLC22A5):c.394-15T>G
NM_003060.4(SLC22A5):c.394-18C>G rs200136788
NM_003060.4(SLC22A5):c.394-1G>T rs1057517106
NM_003060.4(SLC22A5):c.394-2A>G
NM_003060.4(SLC22A5):c.394-2A>T rs377724489
NM_003060.4(SLC22A5):c.394-9A>G
NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter) rs886041277
NM_003060.4(SLC22A5):c.39G>A (p.Glu13=)
NM_003060.4(SLC22A5):c.39G>C (p.Glu13Asp) rs1561560357
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile) rs121908892
NM_003060.4(SLC22A5):c.402G>A (p.Leu134=) rs2126775629
NM_003060.4(SLC22A5):c.402G>C (p.Leu134=) rs2126775629
NM_003060.4(SLC22A5):c.408_409dup (p.Glu137fs)
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg) rs756863825
NM_003060.4(SLC22A5):c.412G>A (p.Asp138Asn) rs534336326
NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr) rs534336326
NM_003060.4(SLC22A5):c.412GAC[1] (p.Asp139del) rs1554086841
NM_003060.4(SLC22A5):c.418T>C (p.Trp140Arg) rs1554086844
NM_003060.4(SLC22A5):c.419G>A (p.Trp140Ter) rs796052039
NM_003060.4(SLC22A5):c.426C>G (p.Ala142=)
NM_003060.4(SLC22A5):c.427C>T (p.Pro143Ser)
NM_003060.4(SLC22A5):c.428del (p.Pro143fs)
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter) rs796052036
NM_003060.4(SLC22A5):c.432C>G (p.Leu144=) rs2126775698
NM_003060.4(SLC22A5):c.435A>G (p.Thr145=) rs1752226152
NM_003060.4(SLC22A5):c.438C>T (p.Ile146=)
NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)
NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup) rs1554085901
NM_003060.4(SLC22A5):c.442T>C (p.Leu148=) rs2126775720
NM_003060.4(SLC22A5):c.447C>G (p.Phe149Leu) rs780989844
NM_003060.4(SLC22A5):c.447dup (p.Phe150fs)
NM_003060.4(SLC22A5):c.449del (p.Phe150fs) rs2126775742
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu) rs751129547
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu) rs386134193
NM_003060.4(SLC22A5):c.453G>C (p.Val151=)
NM_003060.4(SLC22A5):c.453G>T (p.Val151=)
NM_003060.4(SLC22A5):c.455del (p.Gly152fs)
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.45G>C (p.Gly15=)
NM_003060.4(SLC22A5):c.461T>C (p.Leu154Pro) rs1752227681
NM_003060.4(SLC22A5):c.462G>C (p.Leu154=) rs771808266
NM_003060.4(SLC22A5):c.468C>T (p.Gly156=) rs1413484773
NM_003060.4(SLC22A5):c.470C>A (p.Ser157Tyr) rs759925126
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe) rs759925126
NM_003060.4(SLC22A5):c.474_476dup (p.Ile159dup) rs2126775790
NM_003060.4(SLC22A5):c.475A>C (p.Ile159Leu)
NM_003060.4(SLC22A5):c.475_476del (p.Ile159fs)
NM_003060.4(SLC22A5):c.476T>C (p.Ile159Thr)
NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter) rs2126775809
NM_003060.4(SLC22A5):c.480A>G (p.Ser160=)
NM_003060.4(SLC22A5):c.489G>A (p.Leu163=) rs2126775815
NM_003060.4(SLC22A5):c.491C>G (p.Ser164Ter) rs1057516765
NM_003060.4(SLC22A5):c.494_497del (p.Asp165fs) rs2126775820
NM_003060.4(SLC22A5):c.496A>G (p.Arg166Gly)
NM_003060.4(SLC22A5):c.497+10C>T rs1019521695
NM_003060.4(SLC22A5):c.497+11T>C rs2126775852
NM_003060.4(SLC22A5):c.497+12G>A
NM_003060.4(SLC22A5):c.497+19G>C
NM_003060.4(SLC22A5):c.497+1G>A
NM_003060.4(SLC22A5):c.497+1G>T
NM_003060.4(SLC22A5):c.497+2T>A rs1752229268
NM_003060.4(SLC22A5):c.497+5G>T
NM_003060.4(SLC22A5):c.497+7T>C
NM_003060.4(SLC22A5):c.497+8G>A
NM_003060.4(SLC22A5):c.497+9T>A
NM_003060.4(SLC22A5):c.498-4C>T
NM_003060.4(SLC22A5):c.498-6T>C rs2126782125
NM_003060.4(SLC22A5):c.4C>A (p.Arg2=)
NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly) rs762330138
NM_003060.4(SLC22A5):c.4dup (p.Arg2fs) rs377767443
NM_003060.4(SLC22A5):c.503G>A (p.Gly168Asp) rs1752440697
NM_003060.4(SLC22A5):c.503G>C (p.Gly168Ala)
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.506G>C (p.Arg169Pro) rs121908889
NM_003060.4(SLC22A5):c.514G>A (p.Val172Met) rs558978831
NM_003060.4(SLC22A5):c.517C>T (p.Leu173=)
NM_003060.4(SLC22A5):c.517del (p.Leu173fs)
NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro) rs1752441594
NM_003060.4(SLC22A5):c.528C>G (p.Thr176=)
NM_003060.4(SLC22A5):c.528C>T (p.Thr176=) rs1752442501
NM_003060.4(SLC22A5):c.52C>G (p.Gln18Glu) rs2126764773
NM_003060.4(SLC22A5):c.52del (p.Gln18fs) rs1022453298
NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu) rs386134196
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.53A>G (p.Gln18Arg) rs2126764776
NM_003060.4(SLC22A5):c.544G>T (p.Gly182Cys)
NM_003060.4(SLC22A5):c.545G>T (p.Gly182Val)
NM_003060.4(SLC22A5):c.549C>T (p.Phe183=)
NM_003060.4(SLC22A5):c.556C>T (p.Leu186=) rs569496252
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.55C>T (p.Arg19Cys) rs1319889867
NM_003060.4(SLC22A5):c.561G>A (p.Gln187=)
NM_003060.4(SLC22A5):c.562A>G (p.Ile188Val)
NM_003060.4(SLC22A5):c.564C>A (p.Ile188=) rs2126782265
NM_003060.4(SLC22A5):c.565T>C (p.Phe189Leu)
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro) rs1561560424
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)
NM_003060.4(SLC22A5):c.576T>C (p.Asn192=)
NM_003060.4(SLC22A5):c.587_588del (p.Phe196fs) rs2126782321
NM_003060.4(SLC22A5):c.589G>T (p.Val197Phe)
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu) rs757979350
NM_003060.4(SLC22A5):c.596T>C (p.Leu199Pro) rs1752446862
NM_003060.4(SLC22A5):c.597dup (p.Phe200fs) rs1752447161
NM_003060.4(SLC22A5):c.5G>C (p.Arg2Pro)
NM_003060.4(SLC22A5):c.600T>C (p.Phe200=) rs2126782358
NM_003060.4(SLC22A5):c.602T>C (p.Val201Ala)
NM_003060.4(SLC22A5):c.606T>C (p.Leu202=) rs2126782367
NM_003060.4(SLC22A5):c.608T>C (p.Val203Ala)
NM_003060.4(SLC22A5):c.614T>A (p.Met205Lys) rs796052033
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg) rs796052033
NM_003060.4(SLC22A5):c.618C>T (p.Gly206=) rs1752448479
NM_003060.4(SLC22A5):c.620A>G (p.Gln207Arg)
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His) rs780314370
NM_003060.4(SLC22A5):c.635T>C (p.Val212Ala) rs1580884645
NM_003060.4(SLC22A5):c.636G>A (p.Val212=)
NM_003060.4(SLC22A5):c.641C>G (p.Ala214Gly)
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.642A>G (p.Ala214=) rs2126782462
NM_003060.4(SLC22A5):c.646G>C (p.Val216Leu)
NM_003060.4(SLC22A5):c.646G>T (p.Val216Phe) rs1752450375
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.652+11C>G rs916434461
NM_003060.4(SLC22A5):c.652+18G>A
NM_003060.4(SLC22A5):c.652+1G>T
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003060.4(SLC22A5):c.652+9A>T rs2126782491
NM_003060.4(SLC22A5):c.653-10T>A rs765335540
NM_003060.4(SLC22A5):c.653-10T>C rs765335540
NM_003060.4(SLC22A5):c.653-18C>T
NM_003060.4(SLC22A5):c.653-2A>C rs386134201
NM_003060.4(SLC22A5):c.653-2A>G
NM_003060.4(SLC22A5):c.653-7T>C
NM_003060.4(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219fs) rs1554087461
NM_003060.4(SLC22A5):c.656C>T (p.Thr219Ile) rs2126783561
NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val) rs878853249
NM_003060.4(SLC22A5):c.663T>C (p.Ile221=)
NM_003060.4(SLC22A5):c.666T>A (p.Leu222=)
NM_003060.4(SLC22A5):c.66C>T (p.Phe22=)
NM_003060.4(SLC22A5):c.671A>T (p.Lys224Met)
NM_003060.4(SLC22A5):c.671del (p.Lys224fs)
NM_003060.4(SLC22A5):c.672G>A (p.Lys224=) rs2126783589
NM_003060.4(SLC22A5):c.675A>C (p.Ser225=)
NM_003060.4(SLC22A5):c.678del (p.Arg227fs)
NM_003060.4(SLC22A5):c.679C>A (p.Arg227Ser)
NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)
NM_003060.4(SLC22A5):c.680G>T (p.Arg227Leu) rs185551386
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)
NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)
NM_003060.4(SLC22A5):c.687_689del (p.Phe230del) rs1173523095
NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys) rs386134206
NM_003060.4(SLC22A5):c.693T>C (p.Ser231=) rs2126783662
NM_003060.4(SLC22A5):c.696G>T (p.Thr232=) rs748677211
NM_003060.4(SLC22A5):c.69_71del (p.Phe23del) rs2126764814
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.704T>C (p.Val235Ala) rs796052034
NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly) rs796052034
NM_003060.4(SLC22A5):c.706T>A (p.Cys236Ser)
NM_003060.4(SLC22A5):c.707_708delinsTT (p.Cys236Phe) rs2126783727
NM_003060.4(SLC22A5):c.70C>T (p.Leu24=)
NM_003060.4(SLC22A5):c.719C>T (p.Ala240Val)
NM_003060.4(SLC22A5):c.720A>G (p.Ala240=)
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.729C>T (p.Tyr243=) rs2126783776
NM_003060.4(SLC22A5):c.72G>C (p.Leu24=) rs1225763110
NM_003060.4(SLC22A5):c.730A>T (p.Met244Leu)
NM_003060.4(SLC22A5):c.733G>A (p.Val245Met)
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg) rs2126783802
NM_003060.4(SLC22A5):c.744G>A (p.Leu248=) rs1483552442
NM_003060.4(SLC22A5):c.750T>G (p.Ala250=) rs1561571523
NM_003060.4(SLC22A5):c.754T>C (p.Phe252Leu) rs1317233708
NM_003060.4(SLC22A5):c.755del (p.Phe252fs) rs1554087491
NM_003060.4(SLC22A5):c.756C>T (p.Phe252=) rs2126783846
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.765C>T (p.Asp255=)
NM_003060.4(SLC22A5):c.76A>G (p.Ser26Gly) rs1751828398
NM_003060.4(SLC22A5):c.771G>T (p.Arg257=)
NM_003060.4(SLC22A5):c.773T>C (p.Met258Thr) rs1430095203
NM_003060.4(SLC22A5):c.783G>A (p.Val261=) rs1449646556
NM_003060.4(SLC22A5):c.788T>G (p.Leu263Arg) rs1400244280
NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) rs201262157
NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg) rs1752495086
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_003060.4(SLC22A5):c.79G>A (p.Ala27Thr)
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu) rs775430253
NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)
NM_003060.4(SLC22A5):c.802G>A (p.Val268Met)
NM_003060.4(SLC22A5):c.802del (p.Val268fs) rs2126783993
NM_003060.4(SLC22A5):c.804G>A (p.Val268=) rs2126784022
NM_003060.4(SLC22A5):c.804G>T (p.Val268=)
NM_003060.4(SLC22A5):c.805C>T (p.Leu269=) rs2126784023
NM_003060.4(SLC22A5):c.814G>C (p.Ala272Pro)
NM_003060.4(SLC22A5):c.815C>T (p.Ala272Val)
NM_003060.4(SLC22A5):c.816A>C (p.Ala272=)
NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro) rs760320629
NM_003060.4(SLC22A5):c.819C>G (p.Leu273=) rs1752497453
NM_003060.4(SLC22A5):c.81C>T (p.Ala27=)
NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter)
NM_003060.4(SLC22A5):c.824+11C>A rs758784226
NM_003060.4(SLC22A5):c.824+12C>T
NM_003060.4(SLC22A5):c.824+14T>C
NM_003060.4(SLC22A5):c.824+15G>A
NM_003060.4(SLC22A5):c.824+16T>C
NM_003060.4(SLC22A5):c.824+1G>A rs1417000465
NM_003060.4(SLC22A5):c.824+1G>T
NM_003060.4(SLC22A5):c.824+7G>A
NM_003060.4(SLC22A5):c.824+8T>A
NM_003060.4(SLC22A5):c.824+8T>C rs2126784090
NM_003060.4(SLC22A5):c.824+8T>G rs2126784090
NM_003060.4(SLC22A5):c.824+9G>C rs2126784095
NM_003060.4(SLC22A5):c.824G>A (p.Trp275Ter)
NM_003060.4(SLC22A5):c.825-14C>A
NM_003060.4(SLC22A5):c.825-18T>C
NM_003060.4(SLC22A5):c.825-19T>C
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003060.4(SLC22A5):c.825-52G>A rs1194929977
NM_003060.4(SLC22A5):c.825-5G>A rs2126785864
NM_003060.4(SLC22A5):c.825-6T>C rs1343850918
NM_003060.4(SLC22A5):c.825-8A>G
NM_003060.4(SLC22A5):c.825-8A>T rs1752553633
NM_003060.4(SLC22A5):c.825-8_825-6dup rs1752553572
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter) rs386134207
NM_003060.4(SLC22A5):c.82_83del (p.Ser28fs)
NM_003060.4(SLC22A5):c.831C>T (p.Ile277=)
NM_003060.4(SLC22A5):c.833C>T (p.Pro278Leu)
NM_003060.4(SLC22A5):c.835G>T (p.Glu279Ter) rs2126785892
NM_003060.4(SLC22A5):c.836A>T (p.Glu279Val) rs2126785898
NM_003060.4(SLC22A5):c.839C>A (p.Ser280Tyr) rs386134208
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile) rs72552724
NM_003060.4(SLC22A5):c.840C>A (p.Ser280=)
NM_003060.4(SLC22A5):c.840C>T (p.Ser280=) rs1282015269
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu) rs1064793269
NM_003060.4(SLC22A5):c.843C>G (p.Pro281=) rs764544978
NM_003060.4(SLC22A5):c.844C>G (p.Arg282Gly) rs121908886
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.845G>C (p.Arg282Pro)
NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys) rs386134211
NM_003060.4(SLC22A5):c.84C>A (p.Ser28Arg) rs773693788
NM_003060.4(SLC22A5):c.84C>G (p.Ser28Arg)
NM_003060.4(SLC22A5):c.854T>A (p.Ile285Asn) rs1752556276
NM_003060.4(SLC22A5):c.856T>C (p.Ser286Pro) rs1752556458
NM_003060.4(SLC22A5):c.858_859del (p.Gln287fs)
NM_003060.4(SLC22A5):c.860_861del (p.Gln287fs) rs2126786005
NM_003060.4(SLC22A5):c.861G>C (p.Gln287His) rs1182361371
NM_003060.4(SLC22A5):c.864A>G (p.Gly288=) rs1416528354
NM_003060.4(SLC22A5):c.865C>A (p.Arg289=)
NM_003060.4(SLC22A5):c.865_867del (p.Arg289del) rs1554087707
NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln) rs756260416
NM_003060.4(SLC22A5):c.867A>G (p.Arg289=) rs2126786031
NM_003060.4(SLC22A5):c.872A>G (p.Glu291Gly) rs2126786042
NM_003060.4(SLC22A5):c.87C>A (p.Ile29=)
NM_003060.4(SLC22A5):c.881del (p.Glu294fs) rs1554087719
NM_003060.4(SLC22A5):c.883G>A (p.Val295Met) rs2126786073
NM_003060.4(SLC22A5):c.888C>G (p.Ile296Met) rs2126786080
NM_003060.4(SLC22A5):c.891C>A (p.Ile297=) rs2126786094
NM_003060.4(SLC22A5):c.892C>G (p.Arg298Gly)
NM_003060.4(SLC22A5):c.893G>A (p.Arg298His) rs747835354
NM_003060.4(SLC22A5):c.893G>T (p.Arg298Leu) rs747835354
NM_003060.4(SLC22A5):c.894C>T (p.Arg298=)
NM_003060.4(SLC22A5):c.897G>A (p.Lys299=)
NM_003060.4(SLC22A5):c.898G>A (p.Ala300Thr) rs1752558842
NM_003060.4(SLC22A5):c.901G>A (p.Ala301Thr) rs2126786122
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp) rs72552730
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
NM_003060.4(SLC22A5):c.903C>T (p.Ala301=) rs772101972
NM_003060.4(SLC22A5):c.90C>T (p.Ile30=)
NM_003060.4(SLC22A5):c.912T>C (p.Asn304=)
NM_003060.4(SLC22A5):c.922G>A (p.Val308Met) rs1752559686
NM_003060.4(SLC22A5):c.924G>A (p.Val308=) rs2126786151
NM_003060.4(SLC22A5):c.929C>T (p.Ser310Phe) rs368926084
NM_003060.4(SLC22A5):c.92C>T (p.Pro31Leu) rs2126764868
NM_003060.4(SLC22A5):c.930C>T (p.Ser310=)
NM_003060.4(SLC22A5):c.932C>T (p.Thr311Ile) rs770408585
NM_003060.4(SLC22A5):c.933T>C (p.Thr311=) rs2126786173
NM_003060.4(SLC22A5):c.934A>C (p.Ile312Leu)
NM_003060.4(SLC22A5):c.939T>A (p.Phe313Leu) rs1554087737
NM_003060.4(SLC22A5):c.945G>T (p.Pro315=) rs764733247
NM_003060.4(SLC22A5):c.94A>G (p.Asn32Asp) rs727504158
NM_003060.4(SLC22A5):c.951+10A>G
NM_003060.4(SLC22A5):c.951+10A>T rs1752561409
NM_003060.4(SLC22A5):c.951+11T>C
NM_003060.4(SLC22A5):c.951+13T>G rs1348881586
NM_003060.4(SLC22A5):c.951+14G>A
NM_003060.4(SLC22A5):c.951+15G>C
NM_003060.4(SLC22A5):c.951+18G>T
NM_003060.4(SLC22A5):c.951+1G>A
NM_003060.4(SLC22A5):c.951+20G>T rs1405777934
NM_003060.4(SLC22A5):c.951+3A>C rs2126786209
NM_003060.4(SLC22A5):c.951+5G>C rs1752561167
NM_003060.4(SLC22A5):c.951+7A>C
NM_003060.4(SLC22A5):c.951+9C>T
NM_003060.4(SLC22A5):c.952-10G>A
NM_003060.4(SLC22A5):c.952-10_952-8del
NM_003060.4(SLC22A5):c.952-13G>A
NM_003060.4(SLC22A5):c.952-15_952-14insCGTATGA
NM_003060.4(SLC22A5):c.952-17T>C
NM_003060.4(SLC22A5):c.952-19T>C
NM_003060.4(SLC22A5):c.952-1G>T
NM_003060.4(SLC22A5):c.952-2A>G rs1554087913
NM_003060.4(SLC22A5):c.952-5_955del rs2126787981
NM_003060.4(SLC22A5):c.95del (p.Asn32fs)
NM_003060.4(SLC22A5):c.961C>T (p.Leu321=)
NM_003060.4(SLC22A5):c.962T>G (p.Leu321Arg) rs1752616522
NM_003060.4(SLC22A5):c.964A>G (p.Ser322Gly) rs1561574065
NM_003060.4(SLC22A5):c.967T>C (p.Ser323Pro) rs1561574073
NM_003060.4(SLC22A5):c.968C>T (p.Ser323Phe) rs2126788019
NM_003060.4(SLC22A5):c.971A>G (p.Lys324Arg)
NM_003060.4(SLC22A5):c.976C>A (p.Gln326Lys) rs1047810495
NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu) rs1047810495
NM_003060.4(SLC22A5):c.976C>T (p.Gln326Ter) rs1047810495
NM_003060.4(SLC22A5):c.980A>C (p.Gln327Pro) rs886059908
NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del) rs1561574113
NM_015528.3(RNF167):c.833dup (p.Pro279fs) rs1057519428

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