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
|
|