NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)
|
rs910857
|
0.68551
|
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=)
|
rs3746805
|
0.37656
|
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)
|
rs3746808
|
0.26517
|
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu)
|
rs3746804
|
0.18642
|
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=)
|
rs3746807
|
0.10172
|
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val)
|
rs3746802
|
0.09243
|
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met)
|
rs35655964
|
0.06422
|
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=)
|
rs6054605
|
0.06184
|
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)
|
rs76947760
|
0.01629
|
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=)
|
rs34376836
|
0.01265
|
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly)
|
rs6054614
|
0.01033
|
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=)
|
rs16992990
|
0.00815
|
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)
|
rs139486822
|
0.00809
|
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=)
|
rs147369439
|
0.00220
|
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=)
|
rs62641669
|
0.00081
|
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=)
|
rs6054602
|
0.00077
|
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=)
|
rs151229044
|
0.00072
|
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=)
|
rs139965967
|
0.00068
|
NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys)
|
rs142265627
|
0.00052
|
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)
|
rs145431028
|
0.00046
|
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr)
|
rs140360713
|
0.00028
|
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=)
|
rs146474751
|
0.00026
|
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr)
|
rs202130911
|
0.00024
|
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr)
|
rs150159842
|
0.00024
|
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=)
|
rs139430185
|
0.00023
|
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln)
|
rs142157418
|
0.00022
|
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)
|
rs139137879
|
0.00017
|
NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=)
|
rs149534355
|
0.00015
|
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser)
|
rs149622425
|
0.00015
|
NM_033409.4(SLC52A3):c.711G>A (p.Ala237=)
|
rs183391382
|
0.00015
|
NM_033409.4(SLC52A3):c.597C>T (p.Leu199=)
|
rs142019192
|
0.00014
|
NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp)
|
rs370820845
|
0.00013
|
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=)
|
rs149076913
|
0.00013
|
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=)
|
rs373887707
|
0.00012
|
NM_033409.4(SLC52A3):c.567+16C>T
|
rs376004466
|
0.00011
|
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln)
|
rs199861879
|
0.00011
|
NM_033409.4(SLC52A3):c.1149G>A (p.Met383Ile)
|
rs763995965
|
0.00010
|
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)
|
rs148387972
|
0.00010
|
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala)
|
rs527853872
|
0.00009
|
NM_033409.4(SLC52A3):c.567+15C>A
|
rs369950335
|
0.00009
|
NM_033409.4(SLC52A3):c.1197+18G>A
|
rs780649121
|
0.00008
|
NM_033409.4(SLC52A3):c.1301C>T (p.Ala434Val)
|
rs752924421
|
0.00008
|
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=)
|
rs749966154
|
0.00008
|
NM_033409.4(SLC52A3):c.1198-6C>T
|
rs778730226
|
0.00007
|
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln)
|
rs144337813
|
0.00007
|
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe)
|
rs369230517
|
0.00006
|
NM_033409.4(SLC52A3):c.601G>A (p.Gly201Arg)
|
rs565998859
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln)
|
rs111912321
|
0.00006
|
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu)
|
rs201990981
|
0.00006
|
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile)
|
rs112034541
|
0.00005
|
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His)
|
rs748986274
|
0.00005
|
NM_033409.4(SLC52A3):c.979C>T (p.Leu327=)
|
rs774366292
|
0.00005
|
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met)
|
rs148181353
|
0.00004
|
NM_033409.4(SLC52A3):c.1197+14C>G
|
rs566920080
|
0.00004
|
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met)
|
rs776065357
|
0.00004
|
NM_033409.4(SLC52A3):c.249C>T (p.Thr83=)
|
rs200606057
|
0.00004
|
NM_033409.4(SLC52A3):c.25G>A (p.Val9Ile)
|
rs770505431
|
0.00004
|
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn)
|
rs767263985
|
0.00004
|
NM_033409.4(SLC52A3):c.414C>A (p.Leu138=)
|
rs749661470
|
0.00004
|
NM_033409.4(SLC52A3):c.444C>T (p.Ser148=)
|
rs551722690
|
0.00004
|
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys)
|
rs747663714
|
0.00004
|
NM_033409.4(SLC52A3):c.753C>T (p.Ser251=)
|
rs192438170
|
0.00004
|
NM_033409.4(SLC52A3):c.928G>A (p.Val310Ile)
|
rs145194879
|
0.00004
|
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=)
|
rs534678154
|
0.00004
|
NM_033409.4(SLC52A3):c.946G>A (p.Gly316Ser)
|
rs372400886
|
0.00004
|
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=)
|
rs376546378
|
0.00004
|
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile)
|
rs890765839
|
0.00004
|
NM_033409.4(SLC52A3):c.1014C>T (p.Ala338=)
|
rs767240021
|
0.00003
|
NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg)
|
rs762145813
|
0.00003
|
NM_033409.4(SLC52A3):c.1200G>A (p.Val400=)
|
rs772196630
|
0.00003
|
NM_033409.4(SLC52A3):c.1276C>T (p.Arg426Cys)
|
rs780025944
|
0.00003
|
NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp)
|
rs939576852
|
0.00003
|
NM_033409.4(SLC52A3):c.215T>A (p.Val72Glu)
|
rs751825591
|
0.00003
|
NM_033409.4(SLC52A3):c.272T>G (p.Phe91Cys)
|
rs1481097414
|
0.00003
|
NM_033409.4(SLC52A3):c.457G>A (p.Ala153Thr)
|
rs767174206
|
0.00003
|
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro)
|
rs749602815
|
0.00003
|
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met)
|
rs927297761
|
0.00003
|
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp)
|
rs370499474
|
0.00003
|
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=)
|
rs776667122
|
0.00002
|
NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe)
|
rs774461829
|
0.00002
|
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala)
|
rs267606687
|
0.00002
|
NM_033409.4(SLC52A3):c.1333C>G (p.Leu445Val)
|
rs1431510759
|
0.00002
|
NM_033409.4(SLC52A3):c.193C>T (p.Arg65Trp)
|
rs537244674
|
0.00002
|
NM_033409.4(SLC52A3):c.250G>A (p.Val84Ile)
|
rs142064992
|
0.00002
|
NM_033409.4(SLC52A3):c.303C>T (p.Asp101=)
|
rs137861276
|
0.00002
|
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp)
|
rs267606684
|
0.00002
|
NM_033409.4(SLC52A3):c.441C>A (p.Leu147=)
|
rs779220699
|
0.00002
|
NM_033409.4(SLC52A3):c.478G>A (p.Gly160Ser)
|
rs199778195
|
0.00002
|
NM_033409.4(SLC52A3):c.498C>T (p.Cys166=)
|
rs377618514
|
0.00002
|
NM_033409.4(SLC52A3):c.514A>G (p.Ile172Val)
|
rs201479216
|
0.00002
|
NM_033409.4(SLC52A3):c.567+6C>T
|
rs1429255300
|
0.00002
|
NM_033409.4(SLC52A3):c.592G>A (p.Ala198Thr)
|
rs759918880
|
0.00002
|
NM_033409.4(SLC52A3):c.5C>T (p.Ala2Val)
|
rs1472734097
|
0.00002
|
NM_033409.4(SLC52A3):c.615C>T (p.Pro205=)
|
rs771572751
|
0.00002
|
NM_033409.4(SLC52A3):c.70T>C (p.Trp24Arg)
|
rs1288873761
|
0.00002
|
NM_033409.4(SLC52A3):c.797G>A (p.Arg266Gln)
|
rs768105926
|
0.00002
|
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=)
|
rs532778217
|
0.00002
|
NM_033409.4(SLC52A3):c.959C>G (p.Ser320Cys)
|
rs535368648
|
0.00002
|
NM_033409.4(SLC52A3):c.1009G>A (p.Ala337Thr)
|
rs139542858
|
0.00001
|
NM_033409.4(SLC52A3):c.1053C>T (p.Val351=)
|
rs766126275
|
0.00001
|
NM_033409.4(SLC52A3):c.105C>T (p.Pro35=)
|
rs376995195
|
0.00001
|
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)
|
rs267606686
|
0.00001
|
NM_033409.4(SLC52A3):c.1073+10C>T
|
rs767166849
|
0.00001
|
NM_033409.4(SLC52A3):c.1073+16G>A
|
rs372189215
|
0.00001
|
NM_033409.4(SLC52A3):c.1096C>A (p.Leu366Ile)
|
rs772652109
|
0.00001
|
NM_033409.4(SLC52A3):c.1122G>A (p.Gly374=)
|
rs755616826
|
0.00001
|
NM_033409.4(SLC52A3):c.1143G>A (p.Ala381=)
|
rs756997756
|
0.00001
|
NM_033409.4(SLC52A3):c.1197+10C>T
|
rs897478857
|
0.00001
|
NM_033409.4(SLC52A3):c.1198-2A>G
|
rs754753126
|
0.00001
|
NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr)
|
rs544612142
|
0.00001
|
NM_033409.4(SLC52A3):c.1215T>C (p.Leu405=)
|
rs764407302
|
0.00001
|
NM_033409.4(SLC52A3):c.1265G>A (p.Arg422His)
|
rs200665228
|
0.00001
|
NM_033409.4(SLC52A3):c.130C>T (p.Leu44Phe)
|
rs759031372
|
0.00001
|
NM_033409.4(SLC52A3):c.1320G>A (p.Ser440=)
|
rs138169890
|
0.00001
|
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=)
|
rs754225887
|
0.00001
|
NM_033409.4(SLC52A3):c.1359G>A (p.Val453=)
|
rs536993223
|
0.00001
|
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter)
|
rs745750480
|
0.00001
|
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg)
|
rs797045191
|
0.00001
|
NM_033409.4(SLC52A3):c.195G>A (p.Arg65=)
|
rs745945947
|
0.00001
|
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=)
|
rs1455468261
|
0.00001
|
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys)
|
rs267606683
|
0.00001
|
NM_033409.4(SLC52A3):c.238G>A (p.Gly80Ser)
|
rs534971384
|
0.00001
|
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met)
|
rs546240059
|
0.00001
|
NM_033409.4(SLC52A3):c.269C>T (p.Ala90Val)
|
rs765857311
|
0.00001
|
NM_033409.4(SLC52A3):c.304G>A (p.Gly102Ser)
|
rs770944402
|
0.00001
|
NM_033409.4(SLC52A3):c.305G>A (p.Gly102Asp)
|
rs888740621
|
0.00001
|
NM_033409.4(SLC52A3):c.30C>T (p.Cys10=)
|
rs201545356
|
0.00001
|
NM_033409.4(SLC52A3):c.311A>G (p.His104Arg)
|
rs201152444
|
0.00001
|
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr)
|
rs370718326
|
0.00001
|
NM_033409.4(SLC52A3):c.383C>T (p.Pro128Leu)
|
rs890766612
|
0.00001
|
NM_033409.4(SLC52A3):c.384G>A (p.Pro128=)
|
rs774162429
|
0.00001
|
NM_033409.4(SLC52A3):c.432T>C (p.Gly144=)
|
rs1195321579
|
0.00001
|
NM_033409.4(SLC52A3):c.483C>T (p.Ser161=)
|
rs113754514
|
0.00001
|
NM_033409.4(SLC52A3):c.484G>A (p.Gly162Ser)
|
rs896950205
|
0.00001
|
NM_033409.4(SLC52A3):c.48C>G (p.Ser16=)
|
rs142206705
|
0.00001
|
NM_033409.4(SLC52A3):c.510T>C (p.Thr170=)
|
rs772092979
|
0.00001
|
NM_033409.4(SLC52A3):c.526G>A (p.Val176Ile)
|
rs781769616
|
0.00001
|
NM_033409.4(SLC52A3):c.545C>T (p.Thr182Met)
|
rs201100567
|
0.00001
|
NM_033409.4(SLC52A3):c.54G>A (p.Val18=)
|
rs1418731782
|
0.00001
|
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter)
|
rs890871342
|
0.00001
|
NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr)
|
rs752459961
|
0.00001
|
NM_033409.4(SLC52A3):c.568-17T>C
|
rs1986590057
|
0.00001
|
NM_033409.4(SLC52A3):c.599C>T (p.Pro200Leu)
|
rs1392216140
|
0.00001
|
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=)
|
rs1418663109
|
0.00001
|
NM_033409.4(SLC52A3):c.727C>A (p.Arg243Ser)
|
rs1287029928
|
0.00001
|
NM_033409.4(SLC52A3):c.795C>A (p.Ile265=)
|
rs1229887026
|
0.00001
|
NM_033409.4(SLC52A3):c.814G>C (p.Asp272His)
|
rs377559449
|
0.00001
|
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=)
|
rs756359704
|
0.00001
|
NM_033409.4(SLC52A3):c.893C>T (p.Ala298Val)
|
rs543436922
|
0.00001
|
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val)
|
rs752218005
|
0.00001
|
NM_033409.4(SLC52A3):c.950T>C (p.Met317Thr)
|
rs1251411780
|
0.00001
|
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile)
|
rs1027231153
|
0.00001
|
NM_033409.4(SLC52A3):c.954G>A (p.Leu318=)
|
rs147508914
|
0.00001
|
NM_033409.4(SLC52A3):c.974C>T (p.Ser325Phe)
|
rs748083229
|
0.00001
|
NC_000020.10:g.(?_389402)_(746418_?)del
|
|
|
NC_000020.10:g.(?_741650)_(746438_?)dup
|
|
|
NC_000020.10:g.(?_741670)_(742488_?)dup
|
|
|
NC_000020.10:g.(?_741670)_(746418_?)dup
|
|
|
NC_000020.10:g.(?_744142)_(745909_?)del
|
|
|
NC_000020.11:g.(?_761006)_(765794_?)del
|
|
|
NM_033409.4(SLC52A3):c.1000T>C (p.Tyr334His)
|
rs1986560425
|
|
NM_033409.4(SLC52A3):c.1009G>C (p.Ala337Pro)
|
|
|
NM_033409.4(SLC52A3):c.1017C>T (p.Thr339=)
|
|
|
NM_033409.4(SLC52A3):c.1027G>A (p.Val343Met)
|
rs758815341
|
|
NM_033409.4(SLC52A3):c.1027G>T (p.Val343Leu)
|
|
|
NM_033409.4(SLC52A3):c.1037C>G (p.Pro346Arg)
|
rs2122516090
|
|
NM_033409.4(SLC52A3):c.1038T>A (p.Pro346=)
|
|
|
NM_033409.4(SLC52A3):c.1038T>G (p.Pro346=)
|
|
|
NM_033409.4(SLC52A3):c.1047G>C (p.Ser349=)
|
rs147369439
|
|
NM_033409.4(SLC52A3):c.1062C>G (p.Phe354Leu)
|
rs2122515947
|
|
NM_033409.4(SLC52A3):c.1073+11A>C
|
|
|
NM_033409.4(SLC52A3):c.1074-13T>G
|
|
|
NM_033409.4(SLC52A3):c.1074-15C>T
|
|
|
NM_033409.4(SLC52A3):c.1074-16C>G
|
|
|
NM_033409.4(SLC52A3):c.1074-16C>T
|
|
|
NM_033409.4(SLC52A3):c.1074-4C>A
|
|
|
NM_033409.4(SLC52A3):c.1074-8T>C
|
|
|
NM_033409.4(SLC52A3):c.1081C>A (p.Leu361Met)
|
|
|
NM_033409.4(SLC52A3):c.1083G>A (p.Leu361=)
|
rs367957442
|
|
NM_033409.4(SLC52A3):c.1084T>C (p.Phe362Leu)
|
rs1568718167
|
|
NM_033409.4(SLC52A3):c.1086C>G (p.Phe362Leu)
|
rs751425036
|
|
NM_033409.4(SLC52A3):c.1093G>C (p.Val365Leu)
|
rs763929903
|
|
NM_033409.4(SLC52A3):c.1093G>T (p.Val365Phe)
|
rs763929903
|
|
NM_033409.4(SLC52A3):c.1101C>G (p.Ser367=)
|
|
|
NM_033409.4(SLC52A3):c.1104G>C (p.Val368=)
|
|
|
NM_033409.4(SLC52A3):c.1105C>T (p.Leu369Phe)
|
rs748457215
|
|
NM_033409.4(SLC52A3):c.1121G>A (p.Gly374Glu)
|
|
|
NM_033409.4(SLC52A3):c.1123G>T (p.Gly375Cys)
|
|
|
NM_033409.4(SLC52A3):c.1124G>T (p.Gly375Val)
|
|
|
NM_033409.4(SLC52A3):c.1130A>T (p.Asn377Ile)
|
rs1986495207
|
|
NM_033409.4(SLC52A3):c.1139T>C (p.Met380Thr)
|
rs2122509404
|
|
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg)
|
rs1555783543
|
|
NM_033409.4(SLC52A3):c.1160C>T (p.Pro387Leu)
|
rs1164187566
|
|
NM_033409.4(SLC52A3):c.1162C>G (p.Leu388Val)
|
|
|
NM_033409.4(SLC52A3):c.1189G>A (p.Val397Ile)
|
rs2122509059
|
|
NM_033409.4(SLC52A3):c.1195A>G (p.Ile399Val)
|
rs1986490652
|
|
NM_033409.4(SLC52A3):c.1197+13C>T
|
|
|
NM_033409.4(SLC52A3):c.1197+15G>T
|
rs749673791
|
|
NM_033409.4(SLC52A3):c.1198-10G>C
|
|
|
NM_033409.4(SLC52A3):c.1198-5C>G
|
|
|
NM_033409.4(SLC52A3):c.1198-8C>A
|
rs1433006334
|
|
NM_033409.4(SLC52A3):c.1201G>T (p.Ala401Ser)
|
rs544612142
|
|
NM_033409.4(SLC52A3):c.1204T>A (p.Ser402Thr)
|
rs1195024412
|
|
NM_033409.4(SLC52A3):c.1206G>C (p.Ser402=)
|
|
|
NM_033409.4(SLC52A3):c.1206G>T (p.Ser402=)
|
|
|
NM_033409.4(SLC52A3):c.1210G>T (p.Val404Leu)
|
|
|
NM_033409.4(SLC52A3):c.1212G>A (p.Val404=)
|
rs1212542259
|
|
NM_033409.4(SLC52A3):c.1218C>A (p.Phe406Leu)
|
|
|
NM_033409.4(SLC52A3):c.1221C>T (p.Ser407=)
|
rs575834308
|
|
NM_033409.4(SLC52A3):c.1226G>A (p.Cys409Tyr)
|
rs765645474
|
|
NM_033409.4(SLC52A3):c.1227C>T (p.Cys409=)
|
|
|
NM_033409.4(SLC52A3):c.1233T>G (p.Ser411Arg)
|
rs910857
|
|
NM_033409.4(SLC52A3):c.1233delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG (p.Ser411_Tyr412insLeuArgPheProProGlyProAlaGlyGlyLeuValGlyAlaPheGlnArgLeuProGln)
|
|
|
NM_033409.4(SLC52A3):c.1241A>G (p.Lys414Arg)
|
|
|
NM_033409.4(SLC52A3):c.1248G>A (p.Met416Ile)
|
rs771690412
|
|
NM_033409.4(SLC52A3):c.1254C>T (p.Gly418=)
|
rs1986458407
|
|
NM_033409.4(SLC52A3):c.1257G>T (p.Val419=)
|
|
|
NM_033409.4(SLC52A3):c.125C>T (p.Ser42Phe)
|
rs1986660402
|
|
NM_033409.4(SLC52A3):c.1260C>A (p.Val420=)
|
rs1412121788
|
|
NM_033409.4(SLC52A3):c.1266C>G (p.Arg422=)
|
rs948343485
|
|
NM_033409.4(SLC52A3):c.1273A>C (p.Ser425Arg)
|
|
|
NM_033409.4(SLC52A3):c.1300del (p.Ala434fs)
|
|
|
NM_033409.4(SLC52A3):c.1305G>A (p.Ala435=)
|
|
|
NM_033409.4(SLC52A3):c.1306G>A (p.Val436Met)
|
rs2122505768
|
|
NM_033409.4(SLC52A3):c.130C>A (p.Leu44Ile)
|
rs759031372
|
|
NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His)
|
rs1555783468
|
|
NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del)
|
rs1462694166
|
|
NM_033409.4(SLC52A3):c.1327_1338dup (p.Gly443_Leu446dup)
|
rs1462694166
|
|
NM_033409.4(SLC52A3):c.1329A>G (p.Gly443=)
|
rs1599955667
|
|
NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro)
|
rs761224042
|
|
NM_033409.4(SLC52A3):c.1336C>T (p.Leu446Phe)
|
rs1986450964
|
|
NM_033409.4(SLC52A3):c.1340T>C (p.Met447Thr)
|
rs2122505474
|
|
NM_033409.4(SLC52A3):c.1346C>G (p.Pro449Arg)
|
|
|
NM_033409.4(SLC52A3):c.1353C>G (p.Val451=)
|
rs2122505397
|
|
NM_033409.4(SLC52A3):c.1368C>T (p.Leu456=)
|
rs1878825944
|
|
NM_033409.4(SLC52A3):c.1374G>A (p.Ser458=)
|
|
|
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=)
|
rs758484328
|
|
NM_033409.4(SLC52A3):c.1380G>C (p.Ala460=)
|
|
|
NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup)
|
rs1599955591
|
|
NM_033409.4(SLC52A3):c.1407C>G (p.Ala469=)
|
rs1986444095
|
|
NM_033409.4(SLC52A3):c.140T>C (p.Val47Ala)
|
rs1555784013
|
|
NM_033409.4(SLC52A3):c.151G>A (p.Ala51Thr)
|
rs2122526452
|
|
NM_033409.4(SLC52A3):c.162G>A (p.Gly54=)
|
|
|
NM_033409.4(SLC52A3):c.174C>G (p.Val58=)
|
rs2122526324
|
|
NM_033409.4(SLC52A3):c.183C>T (p.Leu61=)
|
rs1372014420
|
|
NM_033409.4(SLC52A3):c.197C>G (p.Pro66Arg)
|
|
|
NM_033409.4(SLC52A3):c.228C>T (p.Phe76=)
|
rs1599959406
|
|
NM_033409.4(SLC52A3):c.237G>T (p.Leu79=)
|
|
|
NM_033409.4(SLC52A3):c.23T>C (p.Leu8Pro)
|
|
|
NM_033409.4(SLC52A3):c.250G>C (p.Val84Leu)
|
rs142064992
|
|
NM_033409.4(SLC52A3):c.281A>G (p.Asn94Ser)
|
|
|
NM_033409.4(SLC52A3):c.282T>C (p.Asn94=)
|
|
|
NM_033409.4(SLC52A3):c.287C>A (p.Thr96Asn)
|
rs1986650729
|
|
NM_033409.4(SLC52A3):c.291C>G (p.Ser97=)
|
|
|
NM_033409.4(SLC52A3):c.293G>A (p.Trp98Ter)
|
|
|
NM_033409.4(SLC52A3):c.303C>A (p.Asp101Glu)
|
rs137861276
|
|
NM_033409.4(SLC52A3):c.314G>A (p.Ser105Asn)
|
rs1375952258
|
|
NM_033409.4(SLC52A3):c.318C>T (p.Ile106=)
|
|
|
NM_033409.4(SLC52A3):c.31G>A (p.Val11Ile)
|
rs746808726
|
|
NM_033409.4(SLC52A3):c.320C>G (p.Ala107Gly)
|
rs1356046308
|
|
NM_033409.4(SLC52A3):c.320C>T (p.Ala107Val)
|
|
|
NM_033409.4(SLC52A3):c.327G>T (p.Leu109Phe)
|
rs1599959281
|
|
NM_033409.4(SLC52A3):c.352G>A (p.Val118Met)
|
rs1481863428
|
|
NM_033409.4(SLC52A3):c.353T>A (p.Val118Glu)
|
|
|
NM_033409.4(SLC52A3):c.36C>T (p.Phe12=)
|
|
|
NM_033409.4(SLC52A3):c.378C>T (p.Phe126=)
|
rs1599959231
|
|
NM_033409.4(SLC52A3):c.37G>A (p.Gly13Arg)
|
rs146302587
|
|
NM_033409.4(SLC52A3):c.394C>A (p.Arg132=)
|
rs267606684
|
|
NM_033409.4(SLC52A3):c.3G>A (p.Met1Ile)
|
rs2122527408
|
|
NM_033409.4(SLC52A3):c.408C>G (p.Tyr136Ter)
|
|
|
NM_033409.4(SLC52A3):c.411C>T (p.Tyr137=)
|
|
|
NM_033409.4(SLC52A3):c.414C>G (p.Leu138=)
|
rs749661470
|
|
NM_033409.4(SLC52A3):c.436G>A (p.Gly146Arg)
|
|
|
NM_033409.4(SLC52A3):c.45C>A (p.Gly15=)
|
|
|
NM_033409.4(SLC52A3):c.463G>T (p.Val155Leu)
|
rs1236849359
|
|
NM_033409.4(SLC52A3):c.468T>C (p.Ala156=)
|
rs1986639907
|
|
NM_033409.4(SLC52A3):c.474C>T (p.Ala158=)
|
|
|
NM_033409.4(SLC52A3):c.481_484dup (p.Gly162fs)
|
rs1383679424
|
|
NM_033409.4(SLC52A3):c.485G>T (p.Gly162Val)
|
rs1986638928
|
|
NM_033409.4(SLC52A3):c.491C>A (p.Thr164Asn)
|
rs2122524593
|
|
NM_033409.4(SLC52A3):c.503A>G (p.Asn168Ser)
|
|
|
NM_033409.4(SLC52A3):c.515T>C (p.Ile172Thr)
|
rs774371416
|
|
NM_033409.4(SLC52A3):c.51G>A (p.Trp17Ter)
|
|
|
NM_033409.4(SLC52A3):c.525C>A (p.Ser175Arg)
|
rs143641819
|
|
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg)
|
rs143641819
|
|
NM_033409.4(SLC52A3):c.525C>T (p.Ser175=)
|
rs143641819
|
|
NM_033409.4(SLC52A3):c.542C>A (p.Pro181His)
|
|
|
NM_033409.4(SLC52A3):c.546G>T (p.Thr182=)
|
rs139965967
|
|
NM_033409.4(SLC52A3):c.554C>A (p.Thr185Asn)
|
rs1256931487
|
|
NM_033409.4(SLC52A3):c.558C>T (p.Asp186=)
|
rs1986633498
|
|
NM_033409.4(SLC52A3):c.561C>T (p.Ile187=)
|
|
|
NM_033409.4(SLC52A3):c.564A>C (p.Ala188=)
|
|
|
NM_033409.4(SLC52A3):c.567+17G>A
|
|
|
NM_033409.4(SLC52A3):c.568-11G>A
|
|
|
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC
|
rs3833341
|
|
NM_033409.4(SLC52A3):c.568-4G>T
|
rs2122519249
|
|
NM_033409.4(SLC52A3):c.568-6T>C
|
|
|
NM_033409.4(SLC52A3):c.56C>T (p.Thr19Ile)
|
|
|
NM_033409.4(SLC52A3):c.591C>T (p.Ser197=)
|
|
|
NM_033409.4(SLC52A3):c.619T>A (p.Ser207Thr)
|
rs1986585692
|
|
NM_033409.4(SLC52A3):c.625C>T (p.Leu209=)
|
|
|
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)
|
rs778363575
|
|
NM_033409.4(SLC52A3):c.639C>T (p.Tyr213=)
|
rs778363575
|
|
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=)
|
rs574008733
|
|
NM_033409.4(SLC52A3):c.658C>T (p.Pro220Ser)
|
|
|
NM_033409.4(SLC52A3):c.661C>A (p.Leu221Met)
|
rs1599958133
|
|
NM_033409.4(SLC52A3):c.661C>T (p.Leu221=)
|
|
|
NM_033409.4(SLC52A3):c.667TTC[1] (p.Phe224del)
|
rs1384973195
|
|
NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys)
|
rs797045197
|
|
NM_033409.4(SLC52A3):c.676C>T (p.Leu226Phe)
|
|
|
NM_033409.4(SLC52A3):c.685A>C (p.Ile229Leu)
|
|
|
NM_033409.4(SLC52A3):c.694G>T (p.Ala232Ser)
|
|
|
NM_033409.4(SLC52A3):c.705C>A (p.Leu235=)
|
rs3746806
|
|
NM_033409.4(SLC52A3):c.705C>G (p.Leu235=)
|
|
|
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=)
|
rs3746806
|
|
NM_033409.4(SLC52A3):c.718G>A (p.Val240Ile)
|
|
|
NM_033409.4(SLC52A3):c.726G>A (p.Gln242=)
|
|
|
NM_033409.4(SLC52A3):c.745G>A (p.Glu249Lys)
|
|
|
NM_033409.4(SLC52A3):c.746A>G (p.Glu249Gly)
|
rs2122518116
|
|
NM_033409.4(SLC52A3):c.753del (p.Val252fs)
|
rs1568721373
|
|
NM_033409.4(SLC52A3):c.754G>A (p.Val252Met)
|
rs757318492
|
|
NM_033409.4(SLC52A3):c.761A>T (p.Asp254Val)
|
|
|
NM_033409.4(SLC52A3):c.763C>T (p.Leu255Phe)
|
rs1986576660
|
|
NM_033409.4(SLC52A3):c.765C>G (p.Leu255=)
|
rs3746805
|
|
NM_033409.4(SLC52A3):c.771T>C (p.Asn257=)
|
rs1986575711
|
|
NM_033409.4(SLC52A3):c.774C>T (p.Asp258=)
|
rs766515749
|
|
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)
|
|
|
NM_033409.4(SLC52A3):c.78G>A (p.Glu26=)
|
|
|
NM_033409.4(SLC52A3):c.790_791del (p.Ser264fs)
|
|
|
NM_033409.4(SLC52A3):c.798G>A (p.Arg266=)
|
|
|
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=)
|
rs145498634
|
|
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)
|
rs145498634
|
|
NM_033409.4(SLC52A3):c.814G>A (p.Asp272Asn)
|
rs377559449
|
|
NM_033409.4(SLC52A3):c.816C>T (p.Asp272=)
|
|
|
NM_033409.4(SLC52A3):c.827C>T (p.Ala276Val)
|
rs1986571785
|
|
NM_033409.4(SLC52A3):c.829G>A (p.Gly277Ser)
|
rs1310858614
|
|
NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg)
|
rs3746803
|
|
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)
|
rs3746803
|
|
NM_033409.4(SLC52A3):c.840C>A (p.Asp280Glu)
|
|
|
NM_033409.4(SLC52A3):c.853C>T (p.Gln285Ter)
|
|
|
NM_033409.4(SLC52A3):c.857G>A (p.Gly286Glu)
|
rs762187343
|
|
NM_033409.4(SLC52A3):c.858G>A (p.Gly286=)
|
|
|
NM_033409.4(SLC52A3):c.858G>T (p.Gly286=)
|
rs752020540
|
|
NM_033409.4(SLC52A3):c.85del (p.Leu29fs)
|
rs1986662202
|
|
NM_033409.4(SLC52A3):c.878C>A (p.Ala293Asp)
|
rs774918391
|
|
NM_033409.4(SLC52A3):c.891G>C (p.Pro297=)
|
rs373350870
|
|
NM_033409.4(SLC52A3):c.895C>T (p.His299Tyr)
|
rs1986566985
|
|
NM_033409.4(SLC52A3):c.901G>A (p.Ala301Thr)
|
rs1986566773
|
|
NM_033409.4(SLC52A3):c.908T>C (p.Ile303Thr)
|
|
|
NM_033409.4(SLC52A3):c.909C>T (p.Ile303=)
|
|
|
NM_033409.4(SLC52A3):c.914C>A (p.Thr305Asn)
|
rs201254395
|
|
NM_033409.4(SLC52A3):c.934G>A (p.Ala312Thr)
|
|
|
NM_033409.4(SLC52A3):c.94A>G (p.Met32Val)
|
rs751913684
|
|
NM_033409.4(SLC52A3):c.94A>T (p.Met32Leu)
|
rs751913684
|
|
NM_033409.4(SLC52A3):c.95T>C (p.Met32Thr)
|
rs1986661705
|
|
NM_033409.4(SLC52A3):c.965A>G (p.Gln322Arg)
|
rs1986562969
|
|
NM_033409.4(SLC52A3):c.995T>C (p.Val332Ala)
|
|
|