NM_000274.4(OAT):c.-30+8C>T
|
rs552799531
|
0.00661
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_000274.3(OAT):c.-83A>G
|
rs969985784
|
0.00046
|
NM_000274.4(OAT):c.1015-6A>G
|
rs561800688
|
0.00046
|
NM_000274.4(OAT):c.*61A>G
|
rs530505560
|
0.00039
|
NM_000274.4(OAT):c.*311T>C
|
rs753216934
|
0.00026
|
NM_000274.4(OAT):c.-12T>G
|
rs775990544
|
0.00023
|
NM_000274.4(OAT):c.740T>C (p.Met247Thr)
|
rs140966644
|
0.00021
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
NM_000274.4(OAT):c.517G>A (p.Ala173Thr)
|
rs372152657
|
0.00014
|
NM_000274.4(OAT):c.-4C>G
|
rs372151002
|
0.00013
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
NM_000274.4(OAT):c.355G>A (p.Val119Ile)
|
rs150939128
|
0.00013
|
NM_000274.4(OAT):c.546G>T (p.Leu182Phe)
|
rs144763058
|
0.00013
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
NM_000274.4(OAT):c.*561G>A
|
rs375454907
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_000274.4(OAT):c.1291A>G (p.Ile431Val)
|
rs138709143
|
0.00010
|
NM_000274.4(OAT):c.1015-5C>T
|
rs764963374
|
0.00009
|
NM_000274.4(OAT):c.283C>T (p.Pro95Ser)
|
rs372105047
|
0.00008
|
NM_000274.4(OAT):c.*35C>T
|
rs750628344
|
0.00006
|
NM_000274.4(OAT):c.649C>T (p.Arg217Cys)
|
rs370970194
|
0.00005
|
NM_000274.3(OAT):c.-104T>C
|
rs886046813
|
0.00004
|
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn)
|
rs745530000
|
0.00004
|
NM_000274.4(OAT):c.1187G>A (p.Arg396Gln)
|
rs776819570
|
0.00003
|
NM_000274.4(OAT):c.314T>C (p.Val105Ala)
|
rs199957428
|
0.00003
|
NM_000274.4(OAT):c.650G>A (p.Arg217His)
|
rs774853325
|
0.00003
|
NM_000274.4(OAT):c.901-3C>T
|
rs371484835
|
0.00003
|
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe)
|
rs768685095
|
0.00002
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
NM_000274.4(OAT):c.1255G>C (p.Val419Leu)
|
rs760922693
|
0.00002
|
NM_000274.4(OAT):c.202A>G (p.Ile68Val)
|
rs766674632
|
0.00002
|
NM_000274.4(OAT):c.46C>T (p.Arg16Cys)
|
rs778757920
|
0.00002
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
NM_000274.4(OAT):c.785C>A (p.Ala262Asp)
|
rs772762366
|
0.00002
|
NM_000274.4(OAT):c.860T>C (p.Ile287Thr)
|
rs550949287
|
0.00002
|
NM_000274.4(OAT):c.899C>G (p.Pro300Arg)
|
rs759979499
|
0.00002
|
NM_000274.4(OAT):c.*189A>G
|
rs886046809
|
0.00001
|
NM_000274.4(OAT):c.*378A>G
|
rs886046807
|
0.00001
|
NM_000274.4(OAT):c.*486A>G
|
rs1377283827
|
0.00001
|
NM_000274.4(OAT):c.-60C>T
|
rs886046812
|
0.00001
|
NM_000274.4(OAT):c.1090C>T (p.Pro364Ser)
|
rs1195438970
|
0.00001
|
NM_000274.4(OAT):c.1135G>A (p.Ala379Thr)
|
rs1408984206
|
0.00001
|
NM_000274.4(OAT):c.1165G>T (p.Asp389Tyr)
|
rs1281980374
|
0.00001
|
NM_000274.4(OAT):c.1166A>G (p.Asp389Gly)
|
rs1414573089
|
0.00001
|
NM_000274.4(OAT):c.1208T>C (p.Leu403Pro)
|
rs141737170
|
0.00001
|
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr)
|
rs774831749
|
0.00001
|
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys)
|
rs936463102
|
0.00001
|
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)
|
rs121965048
|
0.00001
|
NM_000274.4(OAT):c.166C>T (p.His56Tyr)
|
rs1228173312
|
0.00001
|
NM_000274.4(OAT):c.181G>T (p.Ala61Ser)
|
rs369213619
|
0.00001
|
NM_000274.4(OAT):c.211T>C (p.Trp71Arg)
|
rs780235906
|
0.00001
|
NM_000274.4(OAT):c.416T>G (p.Met139Arg)
|
rs1043163922
|
0.00001
|
NM_000274.4(OAT):c.461G>A (p.Arg154His)
|
rs121965039
|
0.00001
|
NM_000274.4(OAT):c.49G>A (p.Gly17Arg)
|
rs760716065
|
0.00001
|
NM_000274.4(OAT):c.58T>A (p.Ser20Thr)
|
rs1046309017
|
0.00001
|
NM_000274.4(OAT):c.606G>A (p.Pro202=)
|
rs369806549
|
0.00001
|
NM_000274.4(OAT):c.633T>G (p.Asp211Glu)
|
rs755162030
|
0.00001
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)
|
rs386833615
|
0.00001
|
NM_000274.4(OAT):c.772-4A>G
|
rs777129550
|
0.00001
|
NM_000274.4(OAT):c.823T>A (p.Trp275Arg)
|
rs947658691
|
0.00001
|
NM_000274.4(OAT):c.845A>G (p.Asn282Ser)
|
rs956427344
|
0.00001
|
NM_000274.4(OAT):c.853C>T (p.Pro285Ser)
|
rs1295048098
|
0.00001
|
NM_000274.4(OAT):c.977A>G (p.Asn326Ser)
|
rs371878605
|
0.00001
|
NM_000274.4(OAT):c.997G>A (p.Ala333Thr)
|
rs1322699067
|
0.00001
|
NC_000010.10:g.(?_126086491)_(126100760_?)dup
|
|
|
NC_000010.10:g.(?_126086511)_(126100740_?)dup
|
|
|
NM_000274.4(OAT):c.*275A>G
|
rs886046808
|
|
NM_000274.4(OAT):c.-30+11G>A
|
rs886046811
|
|
NM_000274.4(OAT):c.-66A>G
|
rs1387021384
|
|
NM_000274.4(OAT):c.1003G>T (p.Ala335Ser)
|
rs751075605
|
|
NM_000274.4(OAT):c.1014+6G>A
|
|
|
NM_000274.4(OAT):c.1014G>A (p.Glu338=)
|
|
|
NM_000274.4(OAT):c.1027G>C (p.Glu343Gln)
|
rs1951391727
|
|
NM_000274.4(OAT):c.1036G>A (p.Ala346Thr)
|
|
|
NM_000274.4(OAT):c.1039G>A (p.Glu347Lys)
|
rs2134450837
|
|
NM_000274.4(OAT):c.1055T>C (p.Leu352Ser)
|
|
|
NM_000274.4(OAT):c.1056G>C (p.Leu352Phe)
|
rs766145396
|
|
NM_000274.4(OAT):c.1073A>G (p.Asn358Ser)
|
|
|
NM_000274.4(OAT):c.1076A>G (p.Glu359Gly)
|
|
|
NM_000274.4(OAT):c.1084A>G (p.Lys362Glu)
|
rs2134450586
|
|
NM_000274.4(OAT):c.109C>G (p.Pro37Ala)
|
|
|
NM_000274.4(OAT):c.110C>T (p.Pro37Leu)
|
rs747742850
|
|
NM_000274.4(OAT):c.1111G>A (p.Val371Ile)
|
|
|
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu)
|
rs386833595
|
|
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)
|
rs121965045
|
|
NM_000274.4(OAT):c.112C>T (p.Pro38Ser)
|
|
|
NM_000274.4(OAT):c.1159+2_1159+3insAAAGAAACCAAAGGTGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_000274.4(OAT):c.1159G>C (p.Asp387His)
|
|
|
NM_000274.4(OAT):c.1160A>G (p.Asp387Gly)
|
|
|
NM_000274.4(OAT):c.116C>T (p.Thr39Ile)
|
rs754764229
|
|
NM_000274.4(OAT):c.1184T>G (p.Leu395Arg)
|
rs2134440552
|
|
NM_000274.4(OAT):c.1187G>T (p.Arg396Leu)
|
|
|
NM_000274.4(OAT):c.1198A>T (p.Asn400Tyr)
|
rs2134440441
|
|
NM_000274.4(OAT):c.1222C>G (p.His408Asp)
|
|
|
NM_000274.4(OAT):c.1231A>G (p.Ile411Val)
|
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
NM_000274.4(OAT):c.124G>A (p.Asp42Asn)
|
rs2134490858
|
|
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu)
|
rs1434415037
|
|
NM_000274.4(OAT):c.1272G>T (p.Glu424Asp)
|
rs1170702129
|
|
NM_000274.4(OAT):c.1285A>G (p.Ile429Val)
|
|
|
NM_000274.4(OAT):c.1294A>T (p.Ile432Phe)
|
|
|
NM_000274.4(OAT):c.1300A>G (p.Lys434Glu)
|
|
|
NM_000274.4(OAT):c.1301A>C (p.Lys434Thr)
|
rs2134439801
|
|
NM_000274.4(OAT):c.1312T>A (p.Ser438Thr)
|
|
|
NM_000274.4(OAT):c.1320A>G (p.Ter440Trp)
|
rs2134439693
|
|
NM_000274.4(OAT):c.158A>G (p.His53Arg)
|
|
|
NM_000274.4(OAT):c.175C>T (p.Pro59Ser)
|
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.199+4C>T
|
rs373425479
|
|
NM_000274.4(OAT):c.199+5G>A
|
rs1564739598
|
|
NM_000274.4(OAT):c.268C>G (p.Gln90Glu)
|
rs121965060
|
|
NM_000274.4(OAT):c.296A>G (p.Asn99Ser)
|
|
|
NM_000274.4(OAT):c.307A>G (p.Ser103Gly)
|
rs2134478495
|
|
NM_000274.4(OAT):c.34G>T (p.Ala12Ser)
|
|
|
NM_000274.4(OAT):c.391T>C (p.Phe131Leu)
|
rs2134478077
|
|
NM_000274.4(OAT):c.395A>G (p.Asn132Ser)
|
|
|
NM_000274.4(OAT):c.401A>G (p.His134Arg)
|
rs1217397711
|
|
NM_000274.4(OAT):c.413C>T (p.Pro138Leu)
|
rs1951673489
|
|
NM_000274.4(OAT):c.427G>T (p.Val143Leu)
|
rs2134477473
|
|
NM_000274.4(OAT):c.437G>T (p.Gly146Val)
|
rs1951668263
|
|
NM_000274.4(OAT):c.43A>T (p.Ser15Cys)
|
rs1453312313
|
|
NM_000274.4(OAT):c.442A>T (p.Thr148Ser)
|
|
|
NM_000274.4(OAT):c.44G>T (p.Ser15Ile)
|
|
|
NM_000274.4(OAT):c.460C>T (p.Arg154Cys)
|
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
NM_000274.4(OAT):c.466T>A (p.Trp156Arg)
|
|
|
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del)
|
rs386833611
|
|
NM_000274.4(OAT):c.478G>C (p.Val160Leu)
|
|
|
NM_000274.4(OAT):c.47G>A (p.Arg16His)
|
|
|
NM_000274.4(OAT):c.494A>C (p.Lys165Thr)
|
rs1951665737
|
|
NM_000274.4(OAT):c.49G>C (p.Gly17Arg)
|
rs760716065
|
|
NM_000274.4(OAT):c.500A>C (p.Lys167Thr)
|
|
|
NM_000274.4(OAT):c.511G>A (p.Val171Ile)
|
rs1951664964
|
|
NM_000274.4(OAT):c.515T>C (p.Phe172Ser)
|
|
|
NM_000274.4(OAT):c.519A>G (p.Ala173=)
|
rs2134476827
|
|
NM_000274.4(OAT):c.520+4T>C
|
|
|
NM_000274.4(OAT):c.521-15_521-12del
|
rs376636397
|
|
NM_000274.4(OAT):c.521-6T>G
|
rs369018496
|
|
NM_000274.4(OAT):c.533G>C (p.Trp178Ser)
|
rs267606923
|
|
NM_000274.4(OAT):c.533G>T (p.Trp178Leu)
|
rs267606923
|
|
NM_000274.4(OAT):c.548C>G (p.Ser183Cys)
|
rs2134465660
|
|
NM_000274.4(OAT):c.565A>G (p.Thr189Ala)
|
|
|
NM_000274.4(OAT):c.578G>A (p.Ser193Asn)
|
|
|
NM_000274.4(OAT):c.583G>A (p.Asp195Asn)
|
rs386833614
|
|
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)
|
rs386833614
|
|
NM_000274.4(OAT):c.603G>T (p.Met201Ile)
|
|
|
NM_000274.4(OAT):c.604C>A (p.Pro202Thr)
|
rs868567649
|
|
NM_000274.4(OAT):c.604C>T (p.Pro202Ser)
|
|
|
NM_000274.4(OAT):c.605C>T (p.Pro202Leu)
|
|
|
NM_000274.4(OAT):c.613_614delinsAC (p.Asp205Thr)
|
|
|
NM_000274.4(OAT):c.614A>G (p.Asp205Gly)
|
rs375157197
|
|
NM_000274.4(OAT):c.619A>T (p.Ile207Phe)
|
|
|
NM_000274.4(OAT):c.626A>G (p.Tyr209Cys)
|
rs2134465189
|
|
NM_000274.4(OAT):c.640G>T (p.Ala214Ser)
|
rs1464097966
|
|
NM_000274.4(OAT):c.648+13C>A
|
rs779470531
|
|
NM_000274.4(OAT):c.648+6T>G
|
rs1951545873
|
|
NM_000274.4(OAT):c.712G>A (p.Val238Ile)
|
|
|
NM_000274.4(OAT):c.718G>A (p.Val240Ile)
|
rs777488833
|
|
NM_000274.4(OAT):c.773T>A (p.Val258Asp)
|
|
|
NM_000274.4(OAT):c.775C>G (p.Leu259Val)
|
rs1252853867
|
|
NM_000274.4(OAT):c.792A>T (p.Glu264Asp)
|
rs1174503043
|
|
NM_000274.4(OAT):c.796C>A (p.Gln266Lys)
|
rs1951458291
|
|
NM_000274.4(OAT):c.799A>G (p.Thr267Ala)
|
rs2134456603
|
|
NM_000274.4(OAT):c.809C>T (p.Ala270Val)
|
rs2134456541
|
|
NM_000274.4(OAT):c.839A>G (p.Tyr280Cys)
|
|
|
NM_000274.4(OAT):c.844A>C (p.Asn282His)
|
rs144131321
|
|
NM_000274.4(OAT):c.886G>A (p.Gly296Arg)
|
rs1589700741
|
|
NM_000274.4(OAT):c.911T>A (p.Val304Glu)
|
rs886046810
|
|
NM_000274.4(OAT):c.911T>G (p.Val304Gly)
|
|
|
NM_000274.4(OAT):c.922G>A (p.Asp308Asn)
|
|
|
NM_000274.4(OAT):c.934C>A (p.Leu312Met)
|
|
|
NM_000274.4(OAT):c.956A>G (p.His319Arg)
|
|
|
NM_000274.4(OAT):c.965C>T (p.Thr322Ile)
|
rs953827835
|
|
NM_000274.4(OAT):c.966A>G (p.Thr322=)
|
rs1951417723
|
|
NM_000274.4(OAT):c.966A>T (p.Thr322=)
|
rs1951417723
|
|
NM_000274.4(OAT):c.96A>C (p.Lys32Asn)
|
rs978283946
|
|
NM_000274.4(OAT):c.986G>C (p.Gly329Ala)
|
|
|
NM_000274.4(OAT):c.992G>A (p.Arg331Gln)
|
|
|
NM_000274.4(OAT):c.992G>T (p.Arg331Leu)
|
rs201504751
|
|