NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=)
|
rs146292053
|
0.00593
|
NM_001363118.2(SLC52A2):c.1001+6C>T
|
rs139398461
|
0.00306
|
NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=)
|
rs74370046
|
0.00303
|
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=)
|
rs147954962
|
0.00148
|
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=)
|
rs111588500
|
0.00090
|
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=)
|
rs138107380
|
0.00078
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)
|
rs144290224
|
0.00067
|
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser)
|
rs151081625
|
0.00058
|
NM_001363118.2(SLC52A2):c.696C>T (p.Gly232=)
|
rs577719492
|
0.00043
|
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr)
|
rs566858747
|
0.00031
|
NM_001363118.2(SLC52A2):c.1173G>A (p.Val391=)
|
rs374011301
|
0.00025
|
NM_001363118.2(SLC52A2):c.1163A>G (p.Tyr388Cys)
|
rs148754028
|
0.00024
|
NM_001363118.2(SLC52A2):c.359T>C (p.Val120Ala)
|
rs74445699
|
0.00018
|
NM_001363118.2(SLC52A2):c.1113G>A (p.Gly371=)
|
rs149575570
|
0.00016
|
NM_001363118.2(SLC52A2):c.217C>T (p.Pro73Ser)
|
rs782022070
|
0.00013
|
NM_001363118.2(SLC52A2):c.540C>A (p.Thr180=)
|
rs782708300
|
0.00013
|
NM_001363118.2(SLC52A2):c.888C>T (p.Ala296=)
|
rs375399467
|
0.00013
|
NM_001363118.2(SLC52A2):c.1106C>T (p.Ser369Leu)
|
rs138160033
|
0.00012
|
NM_001363118.2(SLC52A2):c.1277C>T (p.Pro426Leu)
|
rs201673476
|
0.00012
|
NM_001363118.2(SLC52A2):c.309C>T (p.Ala103=)
|
rs146256291
|
0.00012
|
NM_001363118.2(SLC52A2):c.487C>T (p.Leu163=)
|
rs781887989
|
0.00012
|
NM_001363118.2(SLC52A2):c.1074C>T (p.Val358=)
|
rs142697341
|
0.00011
|
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=)
|
rs374612342
|
0.00011
|
NM_001363118.2(SLC52A2):c.1320A>G (p.Ala440=)
|
rs189845609
|
0.00011
|
NM_001363118.2(SLC52A2):c.384G>A (p.Ser128=)
|
rs140003920
|
0.00011
|
NM_001363118.2(SLC52A2):c.822C>A (p.Ala274=)
|
rs145009003
|
0.00011
|
NM_001363118.2(SLC52A2):c.920G>A (p.Arg307His)
|
rs143091206
|
0.00011
|
NM_001363118.2(SLC52A2):c.370G>T (p.Ala124Ser)
|
rs146274588
|
0.00010
|
NM_001363118.2(SLC52A2):c.863C>T (p.Ala288Val)
|
rs764545993
|
0.00010
|
NM_001363118.2(SLC52A2):c.709G>C (p.Ala237Pro)
|
rs373923619
|
0.00009
|
NM_001363118.2(SLC52A2):c.83A>G (p.Asn28Ser)
|
rs141698844
|
0.00009
|
NM_001363118.2(SLC52A2):c.84T>C (p.Asn28=)
|
rs200102613
|
0.00009
|
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)
|
rs148234606
|
0.00008
|
NM_001363118.2(SLC52A2):c.131-12C>T
|
rs772839526
|
0.00008
|
NM_001363118.2(SLC52A2):c.266T>C (p.Met89Thr)
|
rs782539355
|
0.00007
|
NM_001363118.2(SLC52A2):c.1024C>T (p.Leu342Phe)
|
rs531845498
|
0.00006
|
NM_001363118.2(SLC52A2):c.1064C>A (p.Ala355Glu)
|
rs1173664250
|
0.00006
|
NM_001363118.2(SLC52A2):c.613G>A (p.Val205Ile)
|
rs144883729
|
0.00006
|
NM_001363118.2(SLC52A2):c.835C>T (p.Leu279=)
|
rs782298419
|
0.00006
|
NM_001363118.2(SLC52A2):c.915C>T (p.Tyr305=)
|
rs575769956
|
0.00006
|
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg)
|
rs398124641
|
0.00006
|
NM_001363118.2(SLC52A2):c.1204C>T (p.Arg402Trp)
|
rs371806077
|
0.00005
|
NM_001363118.2(SLC52A2):c.1227C>T (p.Gly409=)
|
rs147518188
|
0.00005
|
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu)
|
rs374071862
|
0.00005
|
NM_001363118.2(SLC52A2):c.806A>G (p.Tyr269Cys)
|
rs372057075
|
0.00005
|
NM_001363118.2(SLC52A2):c.1001+9G>A
|
rs369357625
|
0.00004
|
NM_001363118.2(SLC52A2):c.1021G>A (p.Gly341Ser)
|
rs1055759976
|
0.00004
|
NM_001363118.2(SLC52A2):c.1153G>A (p.Val385Met)
|
rs376552382
|
0.00004
|
NM_001363118.2(SLC52A2):c.1228G>A (p.Val410Met)
|
rs782298557
|
0.00004
|
NM_001363118.2(SLC52A2):c.1307G>A (p.Arg436Lys)
|
rs372200881
|
0.00004
|
NM_001363118.2(SLC52A2):c.244C>T (p.Arg82Trp)
|
rs782293996
|
0.00004
|
NM_001363118.2(SLC52A2):c.371C>T (p.Ala124Val)
|
rs200753132
|
0.00004
|
NM_001363118.2(SLC52A2):c.433C>T (p.Arg145Trp)
|
rs781916346
|
0.00004
|
NM_001363118.2(SLC52A2):c.510C>T (p.Leu170=)
|
rs782181319
|
0.00004
|
NM_001363118.2(SLC52A2):c.511G>A (p.Glu171Lys)
|
rs782584577
|
0.00004
|
NM_001363118.2(SLC52A2):c.541C>T (p.Pro181Ser)
|
rs781908522
|
0.00004
|
NM_001363118.2(SLC52A2):c.556G>A (p.Asp186Asn)
|
rs782269382
|
0.00004
|
NM_001363118.2(SLC52A2):c.576C>T (p.Pro192=)
|
rs782333547
|
0.00004
|
NM_001363118.2(SLC52A2):c.606C>T (p.Ala202=)
|
rs187632310
|
0.00004
|
NM_001363118.2(SLC52A2):c.627T>C (p.Ala209=)
|
rs782019841
|
0.00004
|
NM_001363118.2(SLC52A2):c.63G>T (p.Met21Ile)
|
rs764635442
|
0.00004
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
NM_001363118.2(SLC52A2):c.1125+15A>C
|
rs1157634743
|
0.00003
|
NM_001363118.2(SLC52A2):c.1181G>A (p.Ser394Asn)
|
rs1564657964
|
0.00003
|
NM_001363118.2(SLC52A2):c.1224C>T (p.Ala408=)
|
rs371456902
|
0.00003
|
NM_001363118.2(SLC52A2):c.1257C>T (p.Gly419=)
|
rs199767089
|
0.00003
|
NM_001363118.2(SLC52A2):c.1293C>T (p.His431=)
|
rs184190914
|
0.00003
|
NM_001363118.2(SLC52A2):c.131-11C>G
|
rs782241960
|
0.00003
|
NM_001363118.2(SLC52A2):c.245G>C (p.Arg82Pro)
|
rs377110942
|
0.00003
|
NM_001363118.2(SLC52A2):c.376T>G (p.Cys126Gly)
|
rs781903086
|
0.00003
|
NM_001363118.2(SLC52A2):c.424C>T (p.Arg142Cys)
|
rs1016614259
|
0.00003
|
NM_001363118.2(SLC52A2):c.478G>A (p.Val160Met)
|
rs141953803
|
0.00003
|
NM_001363118.2(SLC52A2):c.528C>T (p.Pro176=)
|
rs782121875
|
0.00003
|
NM_001363118.2(SLC52A2):c.602C>A (p.Thr201Asn)
|
rs552024614
|
0.00003
|
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter)
|
rs375088539
|
0.00003
|
NM_001363118.2(SLC52A2):c.852C>T (p.Ala284=)
|
rs368287241
|
0.00003
|
NM_001363118.2(SLC52A2):c.853G>A (p.Ala285Thr)
|
rs782119101
|
0.00003
|
NM_001363118.2(SLC52A2):c.897C>G (p.Ser299Arg)
|
rs782501346
|
0.00003
|
NM_001363118.2(SLC52A2):c.948G>A (p.Leu316=)
|
rs370929795
|
0.00003
|
NM_001363118.2(SLC52A2):c.1002-11G>A
|
rs369561558
|
0.00002
|
NM_001363118.2(SLC52A2):c.1002-15del
|
rs782455981
|
0.00002
|
NM_001363118.2(SLC52A2):c.1038C>T (p.Gly346=)
|
rs782034472
|
0.00002
|
NM_001363118.2(SLC52A2):c.1110G>A (p.Ala370=)
|
rs782238337
|
0.00002
|
NM_001363118.2(SLC52A2):c.1118T>G (p.Val373Gly)
|
rs200245353
|
0.00002
|
NM_001363118.2(SLC52A2):c.1125+6C>T
|
rs782760057
|
0.00002
|
NM_001363118.2(SLC52A2):c.1133C>T (p.Ser378Leu)
|
rs781888282
|
0.00002
|
NM_001363118.2(SLC52A2):c.1152C>T (p.Gly384=)
|
rs782168938
|
0.00002
|
NM_001363118.2(SLC52A2):c.1160C>G (p.Ser387Cys)
|
rs1213343967
|
0.00002
|
NM_001363118.2(SLC52A2):c.1164C>T (p.Tyr388=)
|
rs370533575
|
0.00002
|
NM_001363118.2(SLC52A2):c.1193A>G (p.His398Arg)
|
rs891211384
|
0.00002
|
NM_001363118.2(SLC52A2):c.1197C>T (p.Gly399=)
|
rs144821688
|
0.00002
|
NM_001363118.2(SLC52A2):c.1216C>G (p.Leu406Val)
|
rs951559441
|
0.00002
|
NM_001363118.2(SLC52A2):c.1267A>G (p.Met423Val)
|
rs560659799
|
0.00002
|
NM_001363118.2(SLC52A2):c.1280C>T (p.Thr427Ile)
|
rs782658897
|
0.00002
|
NM_001363118.2(SLC52A2):c.131-8C>T
|
rs369154606
|
0.00002
|
NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser)
|
rs781993535
|
0.00002
|
NM_001363118.2(SLC52A2):c.177C>T (p.Asn59=)
|
rs372988060
|
0.00002
|
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys)
|
rs782591841
|
0.00002
|
NM_001363118.2(SLC52A2):c.471G>A (p.Leu157=)
|
rs781811083
|
0.00002
|
NM_001363118.2(SLC52A2):c.544G>A (p.Gly182Ser)
|
rs782149467
|
0.00002
|
NM_001363118.2(SLC52A2):c.568C>T (p.Arg190Cys)
|
rs201705744
|
0.00002
|
NM_001363118.2(SLC52A2):c.577G>A (p.Ala193Thr)
|
rs781928955
|
0.00002
|
NM_001363118.2(SLC52A2):c.861C>T (p.Asn287=)
|
rs782362832
|
0.00002
|
NM_001363118.2(SLC52A2):c.951C>T (p.Gly317=)
|
rs543461928
|
0.00002
|
NM_001363118.2(SLC52A2):c.1001+20C>T
|
rs782320817
|
0.00001
|
NM_001363118.2(SLC52A2):c.1002-12C>T
|
rs782803959
|
0.00001
|
NM_001363118.2(SLC52A2):c.1025T>C (p.Leu342Pro)
|
rs1399329664
|
0.00001
|
NM_001363118.2(SLC52A2):c.1053C>A (p.Gly351=)
|
rs1393988722
|
0.00001
|
NM_001363118.2(SLC52A2):c.1075C>T (p.Leu359=)
|
rs1208675754
|
0.00001
|
NM_001363118.2(SLC52A2):c.1094del (p.Leu365fs)
|
rs1564657463
|
0.00001
|
NM_001363118.2(SLC52A2):c.1125+17A>G
|
rs1470284068
|
0.00001
|
NM_001363118.2(SLC52A2):c.1126-8C>T
|
rs374205790
|
0.00001
|
NM_001363118.2(SLC52A2):c.1137G>C (p.Trp379Cys)
|
rs782764685
|
0.00001
|
NM_001363118.2(SLC52A2):c.116A>G (p.Lys39Arg)
|
rs782174760
|
0.00001
|
NM_001363118.2(SLC52A2):c.1178C>T (p.Ala393Val)
|
rs782396304
|
0.00001
|
NM_001363118.2(SLC52A2):c.1208C>T (p.Pro403Leu)
|
rs782516139
|
0.00001
|
NM_001363118.2(SLC52A2):c.1225G>A (p.Gly409Ser)
|
rs1216775653
|
0.00001
|
NM_001363118.2(SLC52A2):c.122T>C (p.Leu41Pro)
|
rs1357218551
|
0.00001
|
NM_001363118.2(SLC52A2):c.1231G>A (p.Ala411Thr)
|
rs782417765
|
0.00001
|
NM_001363118.2(SLC52A2):c.1244G>C (p.Gly415Ala)
|
rs782245545
|
0.00001
|
NM_001363118.2(SLC52A2):c.1250T>C (p.Leu417Pro)
|
rs782065920
|
0.00001
|
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr)
|
rs368924997
|
0.00001
|
NM_001363118.2(SLC52A2):c.126A>C (p.Pro42=)
|
rs527404024
|
0.00001
|
NM_001363118.2(SLC52A2):c.1276C>T (p.Pro426Ser)
|
rs1057518291
|
0.00001
|
NM_001363118.2(SLC52A2):c.1278G>A (p.Pro426=)
|
rs782560735
|
0.00001
|
NM_001363118.2(SLC52A2):c.1302C>G (p.His434Gln)
|
rs1554854658
|
0.00001
|
NM_001363118.2(SLC52A2):c.1304G>A (p.Ser435Asn)
|
rs782453672
|
0.00001
|
NM_001363118.2(SLC52A2):c.147T>C (p.Ser49=)
|
rs782085386
|
0.00001
|
NM_001363118.2(SLC52A2):c.151G>A (p.Val51Ile)
|
rs781986043
|
0.00001
|
NM_001363118.2(SLC52A2):c.167C>T (p.Ala56Val)
|
rs781884010
|
0.00001
|
NM_001363118.2(SLC52A2):c.169C>T (p.Leu57=)
|
rs782549718
|
0.00001
|
NM_001363118.2(SLC52A2):c.178C>T (p.Leu60=)
|
rs201213634
|
0.00001
|
NM_001363118.2(SLC52A2):c.197C>T (p.Thr66Ile)
|
rs1341097702
|
0.00001
|
NM_001363118.2(SLC52A2):c.219A>G (p.Pro73=)
|
rs1586553168
|
0.00001
|
NM_001363118.2(SLC52A2):c.22C>T (p.Arg8Cys)
|
rs782801416
|
0.00001
|
NM_001363118.2(SLC52A2):c.23G>A (p.Arg8His)
|
rs781911494
|
0.00001
|
NM_001363118.2(SLC52A2):c.246G>A (p.Arg82=)
|
rs1554853885
|
0.00001
|
NM_001363118.2(SLC52A2):c.275C>T (p.Thr92Ile)
|
rs1318322133
|
0.00001
|
NM_001363118.2(SLC52A2):c.302A>G (p.His101Arg)
|
rs1302129336
|
0.00001
|
NM_001363118.2(SLC52A2):c.311C>A (p.Pro104Gln)
|
rs782274380
|
0.00001
|
NM_001363118.2(SLC52A2):c.327G>A (p.Leu109=)
|
rs1466282450
|
0.00001
|
NM_001363118.2(SLC52A2):c.397C>A (p.Leu133Met)
|
rs782582813
|
0.00001
|
NM_001363118.2(SLC52A2):c.401C>T (p.Pro134Leu)
|
rs1447838904
|
0.00001
|
NM_001363118.2(SLC52A2):c.45G>A (p.Leu15=)
|
rs1310797519
|
0.00001
|
NM_001363118.2(SLC52A2):c.468G>T (p.Leu156=)
|
rs781959767
|
0.00001
|
NM_001363118.2(SLC52A2):c.501G>A (p.Val167=)
|
rs1818732919
|
0.00001
|
NM_001363118.2(SLC52A2):c.504C>T (p.Gly168=)
|
rs1554854012
|
0.00001
|
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys)
|
rs782345472
|
0.00001
|
NM_001363118.2(SLC52A2):c.533A>G (p.Asn178Ser)
|
rs782368351
|
0.00001
|
NM_001363118.2(SLC52A2):c.534C>T (p.Asn178=)
|
rs142879103
|
0.00001
|
NM_001363118.2(SLC52A2):c.545G>A (p.Gly182Asp)
|
rs1818739205
|
0.00001
|
NM_001363118.2(SLC52A2):c.569G>A (p.Arg190His)
|
rs753003655
|
0.00001
|
NM_001363118.2(SLC52A2):c.581G>A (p.Ser194Asn)
|
rs782409764
|
0.00001
|
NM_001363118.2(SLC52A2):c.605C>T (p.Ala202Val)
|
rs1166880307
|
0.00001
|
NM_001363118.2(SLC52A2):c.607C>T (p.Leu203Phe)
|
rs1818752337
|
0.00001
|
NM_001363118.2(SLC52A2):c.615C>T (p.Val205=)
|
rs549377529
|
0.00001
|
NM_001363118.2(SLC52A2):c.616G>A (p.Ala206Thr)
|
rs782602991
|
0.00001
|
NM_001363118.2(SLC52A2):c.620C>T (p.Ser207Leu)
|
rs1275276031
|
0.00001
|
NM_001363118.2(SLC52A2):c.625G>A (p.Ala209Thr)
|
rs1554854096
|
0.00001
|
NM_001363118.2(SLC52A2):c.650T>A (p.Leu217Gln)
|
rs370367859
|
0.00001
|
NM_001363118.2(SLC52A2):c.656C>T (p.Pro219Leu)
|
rs374006728
|
0.00001
|
NM_001363118.2(SLC52A2):c.657G>A (p.Pro219=)
|
rs141909863
|
0.00001
|
NM_001363118.2(SLC52A2):c.663A>G (p.Pro221=)
|
rs1038513138
|
0.00001
|
NM_001363118.2(SLC52A2):c.679G>A (p.Gly227Arg)
|
rs781816242
|
0.00001
|
NM_001363118.2(SLC52A2):c.711C>G (p.Ala237=)
|
rs1024265039
|
0.00001
|
NM_001363118.2(SLC52A2):c.724G>A (p.Glu242Lys)
|
rs782595543
|
0.00001
|
NM_001363118.2(SLC52A2):c.740C>T (p.Ser247Phe)
|
rs538577149
|
0.00001
|
NM_001363118.2(SLC52A2):c.751C>T (p.Gln251Ter)
|
rs1312209529
|
0.00001
|
NM_001363118.2(SLC52A2):c.756G>A (p.Glu252=)
|
rs1554854179
|
0.00001
|
NM_001363118.2(SLC52A2):c.783C>T (p.Thr261=)
|
rs1281874988
|
0.00001
|
NM_001363118.2(SLC52A2):c.823C>T (p.Arg275Cys)
|
rs782627908
|
0.00001
|
NM_001363118.2(SLC52A2):c.825C>T (p.Arg275=)
|
rs934259287
|
0.00001
|
NM_001363118.2(SLC52A2):c.864G>A (p.Ala288=)
|
rs782702240
|
0.00001
|
NM_001363118.2(SLC52A2):c.876C>T (p.Gly292=)
|
rs782144205
|
0.00001
|
NM_001363118.2(SLC52A2):c.893A>G (p.Gln298Arg)
|
rs782673955
|
0.00001
|
NM_001363118.2(SLC52A2):c.918G>A (p.Gly306=)
|
rs149050347
|
0.00001
|
NM_001363118.2(SLC52A2):c.998G>A (p.Cys333Tyr)
|
rs562964502
|
0.00001
|
NC_000008.10:g.(?_145582954)_(145584675_?)dup
|
|
|
NC_000008.10:g.(?_145584230)_(145584675_?)dup
|
|
|
NC_000008.11:g.(?_144358571)_(144361296_?)del
|
|
|
NC_000008.11:g.(?_144358571)_(144361296_?)dup
|
|
|
NM_001363118.2(SLC52A2):c.1001+18G>T
|
|
|
NM_001363118.2(SLC52A2):c.1002-17C>G
|
|
|
NM_001363118.2(SLC52A2):c.1002-18T>C
|
|
|
NM_001363118.2(SLC52A2):c.1002-7A>G
|
|
|
NM_001363118.2(SLC52A2):c.1004C>T (p.Ser335Phe)
|
|
|
NM_001363118.2(SLC52A2):c.1010C>T (p.Ala337Val)
|
rs1818809777
|
|
NM_001363118.2(SLC52A2):c.1017G>C (p.Leu339=)
|
|
|
NM_001363118.2(SLC52A2):c.1023C>A (p.Gly341=)
|
rs567624974
|
|
NM_001363118.2(SLC52A2):c.1030C>G (p.Leu344Val)
|
rs1301622384
|
|
NM_001363118.2(SLC52A2):c.1030_1031del (p.Leu344fs)
|
rs1328651461
|
|
NM_001363118.2(SLC52A2):c.1059G>A (p.Leu353=)
|
|
|
NM_001363118.2(SLC52A2):c.1059G>T (p.Leu353=)
|
rs1818816659
|
|
NM_001363118.2(SLC52A2):c.1064C>T (p.Ala355Val)
|
rs1173664250
|
|
NM_001363118.2(SLC52A2):c.1065G>A (p.Ala355=)
|
rs200618841
|
|
NM_001363118.2(SLC52A2):c.1065G>T (p.Ala355=)
|
rs200618841
|
|
NM_001363118.2(SLC52A2):c.1075C>G (p.Leu359Val)
|
|
|
NM_001363118.2(SLC52A2):c.1076_1079del (p.Leu359fs)
|
rs1586558204
|
|
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu)
|
rs797045202
|
|
NM_001363118.2(SLC52A2):c.108G>A (p.Val36=)
|
|
|
NM_001363118.2(SLC52A2):c.1092C>T (p.Pro364=)
|
rs2130649884
|
|
NM_001363118.2(SLC52A2):c.1101C>T (p.Gly367=)
|
rs1818821746
|
|
NM_001363118.2(SLC52A2):c.1107G>A (p.Ser369=)
|
rs1279173611
|
|
NM_001363118.2(SLC52A2):c.1109C>T (p.Ala370Val)
|
|
|
NM_001363118.2(SLC52A2):c.1116G>C (p.Val372=)
|
rs200631895
|
|
NM_001363118.2(SLC52A2):c.111G>A (p.Val37=)
|
|
|
NM_001363118.2(SLC52A2):c.1125+14G>T
|
rs2130650475
|
|
NM_001363118.2(SLC52A2):c.1125+7A>G
|
rs781844159
|
|
NM_001363118.2(SLC52A2):c.1125+9_1125+10del
|
rs782519794
|
|
NM_001363118.2(SLC52A2):c.1125G>A (p.Val375=)
|
rs1376573822
|
|
NM_001363118.2(SLC52A2):c.1126-2A>C
|
rs1554854548
|
|
NM_001363118.2(SLC52A2):c.1126-5C>T
|
rs1554854547
|
|
NM_001363118.2(SLC52A2):c.1126-6C>T
|
rs2130651167
|
|
NM_001363118.2(SLC52A2):c.1126-9C>T
|
|
|
NM_001363118.2(SLC52A2):c.1134G>A (p.Ser378=)
|
|
|
NM_001363118.2(SLC52A2):c.1137G>A (p.Trp379Ter)
|
rs782764685
|
|
NM_001363118.2(SLC52A2):c.1140del (p.Leu381fs)
|
rs879254305
|
|
NM_001363118.2(SLC52A2):c.1150G>A (p.Gly384Ser)
|
rs782593601
|
|
NM_001363118.2(SLC52A2):c.1152C>A (p.Gly384=)
|
|
|
NM_001363118.2(SLC52A2):c.1155G>A (p.Val385=)
|
rs782258151
|
|
NM_001363118.2(SLC52A2):c.1165G>T (p.Val389Leu)
|
rs782200719
|
|
NM_001363118.2(SLC52A2):c.1166T>G (p.Val389Gly)
|
rs1818837782
|
|
NM_001363118.2(SLC52A2):c.116_130+83del
|
rs1564653965
|
|
NM_001363118.2(SLC52A2):c.1181G>C (p.Ser394Thr)
|
|
|
NM_001363118.2(SLC52A2):c.11C>G (p.Pro4Arg)
|
rs1554853726
|
|
NM_001363118.2(SLC52A2):c.1200G>A (p.Gly400=)
|
|
|
NM_001363118.2(SLC52A2):c.1209G>T (p.Pro403=)
|
|
|
NM_001363118.2(SLC52A2):c.1212A>G (p.Ala404=)
|
|
|
NM_001363118.2(SLC52A2):c.1221A>T (p.Ala407=)
|
|
|
NM_001363118.2(SLC52A2):c.1232C>A (p.Ala411Asp)
|
|
|
NM_001363118.2(SLC52A2):c.1233C>T (p.Ala411=)
|
|
|
NM_001363118.2(SLC52A2):c.123T>C (p.Leu41=)
|
rs1554853779
|
|
NM_001363118.2(SLC52A2):c.1240G>A (p.Val414Met)
|
rs1554854625
|
|
NM_001363118.2(SLC52A2):c.1245C>T (p.Gly415=)
|
rs545630597
|
|
NM_001363118.2(SLC52A2):c.1249C>T (p.Leu417=)
|
|
|
NM_001363118.2(SLC52A2):c.124C>T (p.Pro42Ser)
|
rs1175039425
|
|
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser)
|
rs397514658
|
|
NM_001363118.2(SLC52A2):c.1259C>T (p.Ala420Val)
|
rs1554854637
|
|
NM_001363118.2(SLC52A2):c.1272C>T (p.Phe424=)
|
|
|
NM_001363118.2(SLC52A2):c.1275C>G (p.Pro425=)
|
rs1818852282
|
|
NM_001363118.2(SLC52A2):c.1277dup (p.Thr427fs)
|
|
|
NM_001363118.2(SLC52A2):c.1278G>C (p.Pro426=)
|
rs782560735
|
|
NM_001363118.2(SLC52A2):c.127G>C (p.Glu43Gln)
|
|
|
NM_001363118.2(SLC52A2):c.1282A>G (p.Ser428Gly)
|
rs2130653128
|
|
NM_001363118.2(SLC52A2):c.130+13G>A
|
rs1818673228
|
|
NM_001363118.2(SLC52A2):c.1303A>G (p.Ser435Gly)
|
|
|
NM_001363118.2(SLC52A2):c.130G>A (p.Gly44Ser)
|
|
|
NM_001363118.2(SLC52A2):c.131-11C>T
|
|
|
NM_001363118.2(SLC52A2):c.131-16C>T
|
rs2130636815
|
|
NM_001363118.2(SLC52A2):c.131-19C>T
|
|
|
NM_001363118.2(SLC52A2):c.131-1G>C
|
rs782305211
|
|
NM_001363118.2(SLC52A2):c.131-7C>T
|
rs782671203
|
|
NM_001363118.2(SLC52A2):c.1315T>C (p.Cys439Arg)
|
rs1554854661
|
|
NM_001363118.2(SLC52A2):c.1315T>G (p.Cys439Gly)
|
rs1554854661
|
|
NM_001363118.2(SLC52A2):c.1323C>A (p.Asp441Glu)
|
rs1554854664
|
|
NM_001363118.2(SLC52A2):c.1324C>T (p.Pro442Ser)
|
rs2130653590
|
|
NM_001363118.2(SLC52A2):c.1325C>A (p.Pro442His)
|
rs2130653606
|
|
NM_001363118.2(SLC52A2):c.1326C>T (p.Pro442=)
|
|
|
NM_001363118.2(SLC52A2):c.143C>T (p.Pro48Leu)
|
rs1554853840
|
|
NM_001363118.2(SLC52A2):c.144C>G (p.Pro48=)
|
rs1554853841
|
|
NM_001363118.2(SLC52A2):c.145T>C (p.Ser49Pro)
|
rs1818690648
|
|
NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter)
|
rs782095095
|
|
NM_001363118.2(SLC52A2):c.150C>T (p.Tyr50=)
|
rs782361124
|
|
NM_001363118.2(SLC52A2):c.154T>A (p.Ser52Thr)
|
|
|
NM_001363118.2(SLC52A2):c.157G>C (p.Val53Leu)
|
|
|
NM_001363118.2(SLC52A2):c.157G>T (p.Val53Leu)
|
rs150137023
|
|
NM_001363118.2(SLC52A2):c.159G>C (p.Val53=)
|
|
|
NM_001363118.2(SLC52A2):c.164T>C (p.Val55Ala)
|
rs1554853854
|
|
NM_001363118.2(SLC52A2):c.174G>A (p.Gly58=)
|
|
|
NM_001363118.2(SLC52A2):c.176A>G (p.Asn59Ser)
|
rs1264287581
|
|
NM_001363118.2(SLC52A2):c.178C>G (p.Leu60Val)
|
rs201213634
|
|
NM_001363118.2(SLC52A2):c.184C>G (p.Leu62Val)
|
rs1221859064
|
|
NM_001363118.2(SLC52A2):c.192G>C (p.Val64=)
|
rs201246554
|
|
NM_001363118.2(SLC52A2):c.192G>T (p.Val64=)
|
rs201246554
|
|
NM_001363118.2(SLC52A2):c.193G>A (p.Val65Met)
|
rs2130637925
|
|
NM_001363118.2(SLC52A2):c.198C>T (p.Thr66=)
|
|
|
NM_001363118.2(SLC52A2):c.209G>A (p.Arg70Lys)
|
rs1818697851
|
|
NM_001363118.2(SLC52A2):c.214G>A (p.Ala72Thr)
|
|
|
NM_001363118.2(SLC52A2):c.216C>T (p.Ala72=)
|
|
|
NM_001363118.2(SLC52A2):c.224A>G (p.Lys75Arg)
|
rs1170458731
|
|
NM_001363118.2(SLC52A2):c.226G>A (p.Asp76Asn)
|
rs782300218
|
|
NM_001363118.2(SLC52A2):c.229G>A (p.Glu77Lys)
|
|
|
NM_001363118.2(SLC52A2):c.231G>A (p.Glu77=)
|
|
|
NM_001363118.2(SLC52A2):c.243C>T (p.Ile81=)
|
|
|
NM_001363118.2(SLC52A2):c.245G>A (p.Arg82Gln)
|
rs377110942
|
|
NM_001363118.2(SLC52A2):c.258G>C (p.Val86=)
|
|
|
NM_001363118.2(SLC52A2):c.26C>G (p.Pro9Arg)
|
rs782458266
|
|
NM_001363118.2(SLC52A2):c.279_283del (p.Leu94fs)
|
rs2130638836
|
|
NM_001363118.2(SLC52A2):c.280C>G (p.Leu94Val)
|
rs1586553484
|
|
NM_001363118.2(SLC52A2):c.282G>T (p.Leu94=)
|
|
|
NM_001363118.2(SLC52A2):c.287C>T (p.Ala96Val)
|
|
|
NM_001363118.2(SLC52A2):c.28G>A (p.Val10Met)
|
rs1818662387
|
|
NM_001363118.2(SLC52A2):c.290C>T (p.Ser97Phe)
|
rs1818706654
|
|
NM_001363118.2(SLC52A2):c.292_293del (p.Leu98fs)
|
|
|
NM_001363118.2(SLC52A2):c.303T>C (p.His101=)
|
|
|
NM_001363118.2(SLC52A2):c.308C>T (p.Ala103Val)
|
rs1818709257
|
|
NM_001363118.2(SLC52A2):c.317C>T (p.Ala106Val)
|
|
|
NM_001363118.2(SLC52A2):c.318A>G (p.Ala106=)
|
|
|
NM_001363118.2(SLC52A2):c.319G>A (p.Gly107Arg)
|
rs1330914046
|
|
NM_001363118.2(SLC52A2):c.327dup (p.His110fs)
|
|
|
NM_001363118.2(SLC52A2):c.328C>T (p.His110Tyr)
|
rs1818711477
|
|
NM_001363118.2(SLC52A2):c.339CTT[1] (p.Phe114del)
|
rs782498327
|
|
NM_001363118.2(SLC52A2):c.342C>T (p.Phe114=)
|
rs1586553825
|
|
NM_001363118.2(SLC52A2):c.343T>C (p.Leu115=)
|
rs1586553840
|
|
NM_001363118.2(SLC52A2):c.346G>A (p.Ala116Thr)
|
rs1554853918
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001363118.2(SLC52A2):c.353C>T (p.Ala118Val)
|
rs117500243
|
|
NM_001363118.2(SLC52A2):c.363G>C (p.Leu121=)
|
rs1554853933
|
|
NM_001363118.2(SLC52A2):c.36C>T (p.Thr12=)
|
rs1200985633
|
|
NM_001363118.2(SLC52A2):c.377G>A (p.Cys126Tyr)
|
rs998301770
|
|
NM_001363118.2(SLC52A2):c.385A>T (p.Asn129Tyr)
|
|
|
NM_001363118.2(SLC52A2):c.400C>T (p.Pro134Ser)
|
rs1818720104
|
|
NM_001363118.2(SLC52A2):c.414C>T (p.His138=)
|
rs782420706
|
|
NM_001363118.2(SLC52A2):c.415C>T (p.Leu139=)
|
rs1554853955
|
|
NM_001363118.2(SLC52A2):c.418C>T (p.Pro140Ser)
|
rs782668296
|
|
NM_001363118.2(SLC52A2):c.425G>A (p.Arg142His)
|
rs560681538
|
|
NM_001363118.2(SLC52A2):c.432A>C (p.Leu144Phe)
|
rs2130640798
|
|
NM_001363118.2(SLC52A2):c.434G>A (p.Arg145Gln)
|
|
|
NM_001363118.2(SLC52A2):c.437C>T (p.Ser146Leu)
|
|
|
NM_001363118.2(SLC52A2):c.444C>T (p.Phe148=)
|
|
|
NM_001363118.2(SLC52A2):c.449G>A (p.Gly150Asp)
|
rs1365149837
|
|
NM_001363118.2(SLC52A2):c.44T>A (p.Leu15Gln)
|
rs2130634152
|
|
NM_001363118.2(SLC52A2):c.453A>G (p.Gln151=)
|
|
|
NM_001363118.2(SLC52A2):c.456C>T (p.Gly152=)
|
|
|
NM_001363118.2(SLC52A2):c.465C>T (p.Ala155=)
|
|
|
NM_001363118.2(SLC52A2):c.466C>G (p.Leu156Val)
|
|
|
NM_001363118.2(SLC52A2):c.466C>T (p.Leu156=)
|
rs1554853980
|
|
NM_001363118.2(SLC52A2):c.471G>C (p.Leu157=)
|
|
|
NM_001363118.2(SLC52A2):c.477C>T (p.Cys159=)
|
|
|
NM_001363118.2(SLC52A2):c.479T>G (p.Val160Gly)
|
|
|
NM_001363118.2(SLC52A2):c.49G>T (p.Ala17Ser)
|
|
|
NM_001363118.2(SLC52A2):c.506G>A (p.Arg169His)
|
rs1554854014
|
|
NM_001363118.2(SLC52A2):c.518C>T (p.Pro173Leu)
|
|
|
NM_001363118.2(SLC52A2):c.525C>A (p.Ala175=)
|
rs1818735284
|
|
NM_001363118.2(SLC52A2):c.540C>T (p.Thr180=)
|
rs782708300
|
|
NM_001363118.2(SLC52A2):c.543del (p.Gly182fs)
|
|
|
NM_001363118.2(SLC52A2):c.549C>T (p.Pro183=)
|
|
|
NM_001363118.2(SLC52A2):c.54_55del (p.Phe19fs)
|
|
|
NM_001363118.2(SLC52A2):c.550C>T (p.Pro184Ser)
|
|
|
NM_001363118.2(SLC52A2):c.551del (p.Pro184fs)
|
rs1554854044
|
|
NM_001363118.2(SLC52A2):c.552G>A (p.Pro184=)
|
rs781807710
|
|
NM_001363118.2(SLC52A2):c.555C>A (p.Leu185=)
|
rs74370046
|
|
NM_001363118.2(SLC52A2):c.563T>G (p.Leu188Arg)
|
rs2130642434
|
|
NM_001363118.2(SLC52A2):c.565G>A (p.Glu189Lys)
|
rs1818743331
|
|
NM_001363118.2(SLC52A2):c.567G>A (p.Glu189=)
|
|
|
NM_001363118.2(SLC52A2):c.580_581inv (p.Ser194Leu)
|
|
|
NM_001363118.2(SLC52A2):c.587TCT[1] (p.Phe197del)
|
rs781879748
|
|
NM_001363118.2(SLC52A2):c.591C>T (p.Phe197=)
|
rs1554854078
|
|
NM_001363118.2(SLC52A2):c.593G>A (p.Trp198Ter)
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rs1818749427
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NM_001363118.2(SLC52A2):c.595del (p.Ala199fs)
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NM_001363118.2(SLC52A2):c.597A>C (p.Ala199=)
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NM_001363118.2(SLC52A2):c.608T>C (p.Leu203Pro)
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NM_001363118.2(SLC52A2):c.610C>A (p.Leu204Met)
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rs369895693
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NM_001363118.2(SLC52A2):c.612G>C (p.Leu204=)
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rs1187056563
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NM_001363118.2(SLC52A2):c.62T>A (p.Met21Lys)
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NM_001363118.2(SLC52A2):c.640C>G (p.Leu214Val)
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rs1818757129
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NM_001363118.2(SLC52A2):c.644T>A (p.Leu215Gln)
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NM_001363118.2(SLC52A2):c.651G>T (p.Leu217=)
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rs782164243
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NM_001363118.2(SLC52A2):c.655C>T (p.Pro219Ser)
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rs782793102
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NM_001363118.2(SLC52A2):c.658CCA[2] (p.Pro222del)
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rs1411614875
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NM_001363118.2(SLC52A2):c.660A>C (p.Pro220=)
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NM_001363118.2(SLC52A2):c.669T>C (p.Ser223=)
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rs1554854127
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NM_001363118.2(SLC52A2):c.681G>A (p.Gly227=)
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rs782456223
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NM_001363118.2(SLC52A2):c.684G>A (p.Glu228=)
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NM_001363118.2(SLC52A2):c.68C>A (p.Ser23Tyr)
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rs1564653909
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NM_001363118.2(SLC52A2):c.690A>C (p.Gly230=)
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rs1818762760
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NM_001363118.2(SLC52A2):c.693A>G (p.Ser231=)
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rs1554854139
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NM_001363118.2(SLC52A2):c.698T>C (p.Leu233Pro)
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NM_001363118.2(SLC52A2):c.702G>A (p.Gln234=)
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rs1818764297
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NM_001363118.2(SLC52A2):c.709G>A (p.Ala237Thr)
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rs373923619
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NM_001363118.2(SLC52A2):c.716G>A (p.Gly239Glu)
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NM_001363118.2(SLC52A2):c.718G>A (p.Ala240Thr)
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rs782465158
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NM_001363118.2(SLC52A2):c.719C>A (p.Ala240Glu)
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rs1001418068
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NM_001363118.2(SLC52A2):c.736G>C (p.Glu246Gln)
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rs879254314
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NM_001363118.2(SLC52A2):c.738G>A (p.Glu246=)
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NM_001363118.2(SLC52A2):c.744A>G (p.Ser248=)
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rs1586556053
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NM_001363118.2(SLC52A2):c.748C>T (p.Leu250=)
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NM_001363118.2(SLC52A2):c.758C>T (p.Pro253Leu)
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rs2130644912
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NM_001363118.2(SLC52A2):c.775G>A (p.Gly259Ser)
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rs2130645113
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NM_001363118.2(SLC52A2):c.777C>T (p.Gly259=)
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rs1554854195
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NM_001363118.2(SLC52A2):c.77C>T (p.Ala26Val)
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rs782192779
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NM_001363118.2(SLC52A2):c.780C>T (p.Thr260=)
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NM_001363118.2(SLC52A2):c.781A>T (p.Thr261Ser)
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rs915304756
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NM_001363118.2(SLC52A2):c.782C>G (p.Thr261Ser)
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NM_001363118.2(SLC52A2):c.783C>G (p.Thr261=)
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rs1281874988
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NM_001363118.2(SLC52A2):c.790C>T (p.Pro264Ser)
|
rs1554854209
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NM_001363118.2(SLC52A2):c.795C>A (p.Asp265Glu)
|
rs1237300879
|
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NM_001363118.2(SLC52A2):c.796C>T (p.Pro266Ser)
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|
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NM_001363118.2(SLC52A2):c.814C>T (p.Leu272=)
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NM_001363118.2(SLC52A2):c.816A>G (p.Leu272=)
|
rs1225050598
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NM_001363118.2(SLC52A2):c.818C>T (p.Ser273Leu)
|
rs532053820
|
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NM_001363118.2(SLC52A2):c.824G>A (p.Arg275His)
|
rs144912258
|
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NM_001363118.2(SLC52A2):c.824G>T (p.Arg275Leu)
|
rs144912258
|
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NM_001363118.2(SLC52A2):c.832T>C (p.Cys278Arg)
|
rs2130645915
|
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NM_001363118.2(SLC52A2):c.833G>T (p.Cys278Phe)
|
rs2130645931
|
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NM_001363118.2(SLC52A2):c.844C>T (p.Leu282=)
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NM_001363118.2(SLC52A2):c.858C>T (p.Thr286=)
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NM_001363118.2(SLC52A2):c.867G>A (p.Leu289=)
|
rs2130646355
|
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NM_001363118.2(SLC52A2):c.87G>T (p.Gly29=)
|
rs782390536
|
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NM_001363118.2(SLC52A2):c.888C>A (p.Ala296=)
|
rs375399467
|
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NM_001363118.2(SLC52A2):c.889G>T (p.Val297Leu)
|
rs782725706
|
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NM_001363118.2(SLC52A2):c.902C>T (p.Ser301Phe)
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|
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NM_001363118.2(SLC52A2):c.903C>T (p.Ser301=)
|
rs782631231
|
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NM_001363118.2(SLC52A2):c.911C>T (p.Pro304Leu)
|
rs2130646783
|
|
NM_001363118.2(SLC52A2):c.919C>T (p.Arg307Cys)
|
rs781996408
|
|
NM_001363118.2(SLC52A2):c.922C>T (p.Leu308=)
|
rs782731667
|
|
NM_001363118.2(SLC52A2):c.926C>T (p.Ala309Val)
|
rs1554854307
|
|
NM_001363118.2(SLC52A2):c.945G>T (p.Val315=)
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|
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NM_001363118.2(SLC52A2):c.955G>A (p.Ala319Thr)
|
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NM_001363118.2(SLC52A2):c.957T>C (p.Ala319=)
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|
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NM_001363118.2(SLC52A2):c.962A>G (p.Asn321Ser)
|
rs540314261
|
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NM_001363118.2(SLC52A2):c.973T>C (p.Cys325Arg)
|
rs1554854341
|
|
NM_001363118.2(SLC52A2):c.978C>T (p.Phe326=)
|
rs1272142641
|
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NM_001363118.2(SLC52A2):c.979C>T (p.Leu327=)
|
rs371669411
|
|
NM_001363118.2(SLC52A2):c.989G>T (p.Gly330Val)
|
rs782177542
|
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