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.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
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.272A>G (p.Asn91Ser)
|
rs546442503
|
0.00039
|
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)
|
rs142447950
|
0.00035
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
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.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
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.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)
|
rs185551386
|
0.00004
|
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)
|
rs72552731
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
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.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)
|
rs121908891
|
0.00002
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
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.1202dup (p.Tyr401Ter)
|
rs121908887
|
0.00001
|
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)
|
rs781330134
|
0.00001
|
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)
|
rs72552722
|
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.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)
|
rs377767445
|
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.1520T>C (p.Leu507Ser)
|
rs1157198543
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
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.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)
|
rs747821417
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003060.4(SLC22A5):c.652+1G>A
|
rs386134200
|
0.00001
|
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)
|
rs756650860
|
0.00001
|
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)
|
rs775502377
|
0.00001
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
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.859C>T (p.Gln287Ter)
|
rs931801909
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
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
|
|
|
NM_003060.4(SLC22A5):c.104_153delinsATGGTATGTCAGTCGTGTTCCTGGCGGGGACCCCGGAGCACCGCTGTCGA (p.Thr35_Ala44delinsAsnGlyMetSerValValPheLeuAlaGly)
|
|
|
NM_003060.4(SLC22A5):c.1060dup (p.Ile354fs)
|
rs1752666026
|
|
NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)
|
|
|
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)
|
rs1580892239
|
|
NM_003060.4(SLC22A5):c.1090del (p.Asp364fs)
|
|
|
NM_003060.4(SLC22A5):c.1127_1130del (p.Cys376fs)
|
|
|
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)
|
rs1580892402
|
|
NM_003060.4(SLC22A5):c.1159T>C (p.Tyr387His)
|
rs2126789736
|
|
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.1240del (p.Leu414fs)
|
rs2126789878
|
|
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)
|
rs1057518297
|
|
NM_003060.4(SLC22A5):c.1264_1265dup (p.Asp423fs)
|
|
|
NM_003060.4(SLC22A5):c.1289del (p.Val430fs)
|
rs2126791314
|
|
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)
|
rs779385095
|
|
NM_003060.4(SLC22A5):c.1304del (p.Gly435fs)
|
rs386134217
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.1347C>A (p.Tyr449Ter)
|
rs2126791445
|
|
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
|
|
|
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)
|
rs2126791456
|
|
NM_003060.4(SLC22A5):c.1392_1409del (p.Val465_Ser470del)
|
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
NM_003060.4(SLC22A5):c.1409C>A (p.Ser470Tyr)
|
|
|
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.1433C>T (p.Pro478Leu)
|
rs72552735
|
|
NM_003060.4(SLC22A5):c.1446C>G (p.Tyr482Ter)
|
rs569268772
|
|
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)
|
rs763224132
|
|
NM_003060.4(SLC22A5):c.1462del (p.Arg488fs)
|
|
|
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)
|
rs386134227
|
|
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)
|
rs1554088578
|
|
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.160_166dup (p.Ala56fs)
|
rs1057516797
|
|
NM_003060.4(SLC22A5):c.209_240dup (p.Cys81fs)
|
|
|
NM_003060.4(SLC22A5):c.20_21insCCGGT (p.Thr8fs)
|
|
|
NM_003060.4(SLC22A5):c.212_222dup (p.Arg75fs)
|
rs1751843672
|
|
NM_003060.4(SLC22A5):c.235del (p.His79fs)
|
rs377767447
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
NM_003060.4(SLC22A5):c.280del (p.Ala94fs)
|
|
|
NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr)
|
rs1554085885
|
|
NM_003060.4(SLC22A5):c.328C>T (p.Gln110Ter)
|
rs2126765527
|
|
NM_003060.4(SLC22A5):c.350G>A (p.Trp117Ter)
|
|
|
NM_003060.4(SLC22A5):c.352G>T (p.Glu118Ter)
|
|
|
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)
|
rs1554086010
|
|
NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter)
|
rs553647459
|
|
NM_003060.4(SLC22A5):c.393+1G>A
|
rs1057517069
|
|
NM_003060.4(SLC22A5):c.394-1G>T
|
rs1057517106
|
|
NM_003060.4(SLC22A5):c.394-2A>T
|
rs377724489
|
|
NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)
|
rs886041277
|
|
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)
|
rs756863825
|
|
NM_003060.4(SLC22A5):c.419G>A (p.Trp140Ter)
|
rs796052039
|
|
NM_003060.4(SLC22A5):c.428del (p.Pro143fs)
|
|
|
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)
|
rs796052036
|
|
NM_003060.4(SLC22A5):c.447dup (p.Phe150fs)
|
|
|
NM_003060.4(SLC22A5):c.449del (p.Phe150fs)
|
rs2126775742
|
|
NM_003060.4(SLC22A5):c.455del (p.Gly152fs)
|
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)
|
rs759925126
|
|
NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter)
|
rs2126775809
|
|
NM_003060.4(SLC22A5):c.494_497del (p.Asp165fs)
|
rs2126775820
|
|
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.505C>T (p.Arg169Trp)
|
rs121908890
|
|
NM_003060.4(SLC22A5):c.506G>C (p.Arg169Pro)
|
rs121908889
|
|
NM_003060.4(SLC22A5):c.517del (p.Leu173fs)
|
|
|
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)
|
rs1022453298
|
|
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)
|
rs1437174685
|
|
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.587_588del (p.Phe196fs)
|
rs2126782321
|
|
NM_003060.4(SLC22A5):c.597dup (p.Phe200fs)
|
rs1752447161
|
|
NM_003060.4(SLC22A5):c.620A>G (p.Gln207Arg)
|
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
NM_003060.4(SLC22A5):c.652+1G>T
|
|
|
NM_003060.4(SLC22A5):c.653-2A>C
|
rs386134201
|
|
NM_003060.4(SLC22A5):c.653-2A>G
|
|
|
NM_003060.4(SLC22A5):c.671del (p.Lys224fs)
|
|
|
NM_003060.4(SLC22A5):c.69_71del (p.Phe23del)
|
rs2126764814
|
|
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)
|
rs72552728
|
|
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)
|
rs2126783802
|
|
NM_003060.4(SLC22A5):c.755del (p.Phe252fs)
|
rs1554087491
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
|
rs201262157
|
|
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)
|
rs538372785
|
|
NM_003060.4(SLC22A5):c.802del (p.Val268fs)
|
rs2126783993
|
|
NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro)
|
rs760320629
|
|
NM_003060.4(SLC22A5):c.825-52G>A
|
rs1194929977
|
|
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
NM_003060.4(SLC22A5):c.835G>T (p.Glu279Ter)
|
rs2126785892
|
|
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)
|
rs72552724
|
|
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.860_861del (p.Gln287fs)
|
rs2126786005
|
|
NM_003060.4(SLC22A5):c.881del (p.Glu294fs)
|
rs1554087719
|
|
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)
|
rs72552730
|
|
NM_003060.4(SLC22A5):c.92C>T (p.Pro31Leu)
|
rs2126764868
|
|
NM_003060.4(SLC22A5):c.95del (p.Asn32fs)
|
|
|
NM_003060.4(SLC22A5):c.976C>T (p.Gln326Ter)
|
rs1047810495
|
|