NM_000341.4(SLC3A1):c.114A>C (p.Gly38=)
|
rs3738985
|
0.75388
|
NM_014270.5(SLC7A9):c.874-39A>G
|
rs2287879
|
0.70645
|
NM_014270.5(SLC7A9):c.-172T>A
|
rs2287876
|
0.63605
|
NM_001171613.2(PREPL):c.*586A>G
|
rs8886
|
0.63581
|
NM_000341.4(SLC3A1):c.1332+7C>T
|
rs3738984
|
0.61143
|
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala)
|
rs12150889
|
0.34607
|
NM_014270.5(SLC7A9):c.507C>T (p.Ser169=)
|
rs11084673
|
0.32264
|
NM_014270.5(SLC7A9):c.687C>T (p.Leu229=)
|
rs1007161
|
0.31957
|
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met)
|
rs1007160
|
0.31956
|
NM_014270.5(SLC7A9):c.1143C>T (p.Ala381=)
|
rs2287881
|
0.22930
|
NM_014270.5(SLC7A9):c.399C>T (p.Ser133=)
|
rs35170371
|
0.22541
|
NM_014270.5(SLC7A9):c.*79T>C
|
rs2287884
|
0.18414
|
NM_014270.5(SLC7A9):c.-39C>T
|
rs11084677
|
0.14818
|
NM_014270.5(SLC7A9):c.478+10T>C
|
rs6510300
|
0.10753
|
NM_014270.5(SLC7A9):c.604+10G>A
|
rs11084672
|
0.09952
|
NM_014270.5(SLC7A9):c.411T>C (p.Cys137=)
|
rs12150890
|
0.09440
|
NM_014270.5(SLC7A9):c.1365C>T (p.Val455=)
|
rs34347941
|
0.02214
|
NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)
|
rs61730903
|
0.01386
|
NM_014270.5(SLC7A9):c.1119G>A (p.Ser373=)
|
rs111630604
|
0.00913
|
NM_014270.5(SLC7A9):c.228G>C (p.Ala76=)
|
rs34310174
|
0.00749
|
NM_000341.4(SLC3A1):c.892-6C>G
|
rs114640930
|
0.00651
|
NM_000341.4(SLC3A1):c.1572C>T (p.Asn524=)
|
rs149590349
|
0.00368
|
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=)
|
rs78795495
|
0.00357
|
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)
|
rs115030299
|
0.00351
|
NM_014270.5(SLC7A9):c.978-17G>A
|
rs45628833
|
0.00315
|
NM_014270.5(SLC7A9):c.522C>T (p.Ser174=)
|
rs142766345
|
0.00293
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
NM_000341.4(SLC3A1):c.1012-23C>T
|
rs201121824
|
0.00284
|
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)
|
rs141587158
|
0.00273
|
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)
|
rs146630359
|
0.00260
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)
|
rs140821819
|
0.00211
|
NM_014270.5(SLC7A9):c.*8C>T
|
rs145079057
|
0.00187
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile)
|
rs138744722
|
0.00160
|
NM_001171613.2(PREPL):c.*561A>G
|
rs546219789
|
0.00152
|
NM_000341.4(SLC3A1):c.1333-12T>A
|
rs183158004
|
0.00150
|
NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=)
|
rs147267783
|
0.00127
|
NM_000341.4(SLC3A1):c.672A>G (p.Gln224=)
|
rs140331858
|
0.00121
|
NM_014270.5(SLC7A9):c.1182C>T (p.Ile394=)
|
rs557019592
|
0.00095
|
NM_014270.5(SLC7A9):c.1403C>T (p.Pro468Leu)
|
rs80283711
|
0.00089
|
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)
|
rs139310305
|
0.00076
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)
|
rs139388814
|
0.00069
|
NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=)
|
rs141142633
|
0.00058
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)
|
rs143740561
|
0.00051
|
NM_014270.5(SLC7A9):c.*82C>T
|
rs537630298
|
0.00046
|
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His)
|
rs144162964
|
0.00044
|
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys)
|
rs149813423
|
0.00042
|
NM_014270.5(SLC7A9):c.-26G>T
|
rs375495587
|
0.00042
|
NM_014270.5(SLC7A9):c.183T>A (p.Ala61=)
|
rs142721539
|
0.00040
|
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)
|
rs200436145
|
0.00039
|
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val)
|
rs138597262
|
0.00037
|
NM_014270.5(SLC7A9):c.723C>T (p.Ile241=)
|
rs146682721
|
0.00035
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00028
|
NM_000341.4(SLC3A1):c.544G>A (p.Glu182Lys)
|
rs549909989
|
0.00027
|
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)
|
rs144065614
|
0.00026
|
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)
|
rs149507807
|
0.00026
|
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln)
|
rs142469446
|
0.00025
|
NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)
|
rs147344717
|
0.00024
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_014270.5(SLC7A9):c.814G>A (p.Val272Met)
|
rs774871326
|
0.00021
|
NM_014270.5(SLC7A9):c.874-14G>A
|
rs369923725
|
0.00021
|
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)
|
rs200483989
|
0.00019
|
NM_000341.4(SLC3A1):c.901C>T (p.Arg301Trp)
|
rs200001296
|
0.00019
|
NM_014270.5(SLC7A9):c.1199G>A (p.Arg400Lys)
|
rs202069562
|
0.00018
|
NM_014270.5(SLC7A9):c.978-18C>T
|
rs200323617
|
0.00018
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His)
|
rs375237049
|
0.00016
|
NM_014270.5(SLC7A9):c.369G>A (p.Thr123=)
|
rs144880180
|
0.00016
|
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr)
|
rs201989712
|
0.00014
|
NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)
|
rs121908486
|
0.00014
|
NM_014270.5(SLC7A9):c.988G>A (p.Val330Met)
|
rs201618022
|
0.00014
|
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His)
|
rs138086959
|
0.00013
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)
|
rs121908487
|
0.00012
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=)
|
rs199552160
|
0.00011
|
NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met)
|
rs146154087
|
0.00011
|
NM_014270.5(SLC7A9):c.324C>T (p.Pro108=)
|
rs375773222
|
0.00011
|
NM_014270.5(SLC7A9):c.45G>A (p.Ser15=)
|
rs146359100
|
0.00011
|
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly)
|
rs534054965
|
0.00010
|
NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser)
|
rs752881588
|
0.00010
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
NM_000341.4(SLC3A1):c.1011+12T>C
|
rs370288046
|
0.00008
|
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His)
|
rs140452488
|
0.00008
|
NM_014270.5(SLC7A9):c.977+17G>A
|
rs376464833
|
0.00008
|
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)
|
rs201502095
|
0.00007
|
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys)
|
rs148946634
|
0.00007
|
NM_000341.4(SLC3A1):c.-16C>T
|
rs372603963
|
0.00006
|
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)
|
rs375399468
|
0.00006
|
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala)
|
rs772556641
|
0.00006
|
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val)
|
rs200093674
|
0.00006
|
NM_014270.5(SLC7A9):c.44C>T (p.Ser15Leu)
|
rs148435870
|
0.00006
|
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)
|
rs140873167
|
0.00006
|
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)
|
rs765828196
|
0.00005
|
NM_000341.4(SLC3A1):c.1137-3T>C
|
rs555017366
|
0.00005
|
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr)
|
rs772817732
|
0.00005
|
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr)
|
rs201325919
|
0.00005
|
NM_014270.5(SLC7A9):c.604+2T>C
|
rs763110287
|
0.00005
|
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)
|
rs760943092
|
0.00004
|
NM_000341.4(SLC3A1):c.1136+9C>T
|
rs749975291
|
0.00004
|
NM_000341.4(SLC3A1):c.1179C>T (p.Thr393=)
|
rs778276427
|
0.00004
|
NM_000341.4(SLC3A1):c.1383T>C (p.Tyr461=)
|
rs769816876
|
0.00004
|
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)
|
rs146963107
|
0.00004
|
NM_000341.4(SLC3A1):c.17G>A (p.Ser6Asn)
|
rs147004629
|
0.00004
|
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)
|
rs781253461
|
0.00004
|
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=)
|
rs771021431
|
0.00004
|
NM_014270.5(SLC7A9):c.-119G>A
|
rs886054331
|
0.00004
|
NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=)
|
rs144616352
|
0.00004
|
NM_014270.5(SLC7A9):c.780C>T (p.Ile260=)
|
rs886054329
|
0.00004
|
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
|
rs121908484
|
0.00004
|
NM_000341.4(SLC3A1):c.1074C>T (p.His358=)
|
rs754041697
|
0.00003
|
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)
|
rs187962930
|
0.00003
|
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys)
|
rs201143887
|
0.00003
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
NM_000341.4(SLC3A1):c.769A>G (p.Ser257Gly)
|
rs746309755
|
0.00003
|
NM_014270.5(SLC7A9):c.-159G>A
|
rs768949145
|
0.00003
|
NM_014270.5(SLC7A9):c.-90G>A
|
rs886054330
|
0.00003
|
NM_014270.5(SLC7A9):c.26G>A (p.Arg9Gln)
|
rs200753692
|
0.00003
|
NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile)
|
rs768355648
|
0.00003
|
NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser)
|
rs143285077
|
0.00003
|
NM_014270.5(SLC7A9):c.827C>T (p.Thr276Ile)
|
rs886054328
|
0.00003
|
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys)
|
rs764849767
|
0.00002
|
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His)
|
rs373852467
|
0.00002
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=)
|
rs746978183
|
0.00002
|
NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe)
|
rs549888282
|
0.00002
|
NM_014270.5(SLC7A9):c.1074+14C>A
|
rs367844535
|
0.00002
|
NM_014270.5(SLC7A9):c.1399A>G (p.Lys467Glu)
|
rs201241670
|
0.00002
|
NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr)
|
rs1294879564
|
0.00002
|
NM_014270.5(SLC7A9):c.468C>T (p.Ala156=)
|
rs770249299
|
0.00002
|
NM_014270.5(SLC7A9):c.813C>T (p.Asn271=)
|
rs371236313
|
0.00002
|
NM_014270.5(SLC7A9):c.864G>A (p.Ala288=)
|
rs781259784
|
0.00002
|
NM_000341.4(SLC3A1):c.1063G>A (p.Val355Met)
|
rs141061483
|
0.00001
|
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His)
|
rs121912697
|
0.00001
|
NM_000341.4(SLC3A1):c.1098G>C (p.Gln366His)
|
rs745473969
|
0.00001
|
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=)
|
rs772223467
|
0.00001
|
NM_000341.4(SLC3A1):c.1136+10G>A
|
rs755742518
|
0.00001
|
NM_000341.4(SLC3A1):c.1181T>C (p.Val394Ala)
|
rs1238384854
|
0.00001
|
NM_000341.4(SLC3A1):c.1199C>T (p.Pro400Leu)
|
rs759029819
|
0.00001
|
NM_000341.4(SLC3A1):c.1227C>T (p.Phe409=)
|
rs1264045792
|
0.00001
|
NM_000341.4(SLC3A1):c.1250A>T (p.Asp417Val)
|
rs1378685455
|
0.00001
|
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys)
|
rs1031709288
|
0.00001
|
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)
|
rs557669708
|
0.00001
|
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=)
|
rs368554884
|
0.00001
|
NM_000341.4(SLC3A1):c.1332+2T>A
|
rs758627758
|
0.00001
|
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg)
|
rs1469809535
|
0.00001
|
NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn)
|
rs886056071
|
0.00001
|
NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)
|
rs754053965
|
0.00001
|
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)
|
rs777575410
|
0.00001
|
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)
|
rs776729515
|
0.00001
|
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=)
|
rs770801300
|
0.00001
|
NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile)
|
rs199685360
|
0.00001
|
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)
|
rs121912696
|
0.00001
|
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile)
|
rs778587102
|
0.00001
|
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=)
|
rs763292534
|
0.00001
|
NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr)
|
rs267599386
|
0.00001
|
NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly)
|
rs377448239
|
0.00001
|
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)
|
rs1361526419
|
0.00001
|
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
|
rs777149216
|
0.00001
|
NM_000341.4(SLC3A1):c.264C>T (p.Ile88=)
|
rs770970062
|
0.00001
|
NM_000341.4(SLC3A1):c.276C>T (p.Leu92=)
|
rs1671329757
|
0.00001
|
NM_000341.4(SLC3A1):c.303C>T (p.Ile101=)
|
rs752281627
|
0.00001
|
NM_000341.4(SLC3A1):c.395A>G (p.Lys132Arg)
|
rs148787131
|
0.00001
|
NM_000341.4(SLC3A1):c.439G>C (p.Asp147His)
|
rs747368911
|
0.00001
|
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val)
|
rs757439376
|
0.00001
|
NM_000341.4(SLC3A1):c.597C>A (p.Ala199=)
|
rs1318112597
|
0.00001
|
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg)
|
rs750919380
|
0.00001
|
NM_000341.4(SLC3A1):c.766-2A>C
|
rs201376169
|
0.00001
|
NM_000341.4(SLC3A1):c.892-9C>T
|
rs1335328608
|
0.00001
|
NM_001171613.2(PREPL):c.*608T>C
|
rs755700908
|
0.00001
|
NM_001171613.2(PREPL):c.*617A>G
|
rs886056074
|
0.00001
|
NM_014270.5(SLC7A9):c.*20C>T
|
rs773144504
|
0.00001
|
NM_014270.5(SLC7A9):c.-133C>A
|
rs1019636549
|
0.00001
|
NM_014270.5(SLC7A9):c.1225-8G>A
|
rs374629909
|
0.00001
|
NM_014270.5(SLC7A9):c.177G>A (p.Thr59=)
|
rs771205937
|
0.00001
|
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)
|
rs769448665
|
0.00001
|
NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys)
|
rs771811712
|
0.00001
|
NM_014270.5(SLC7A9):c.30A>G (p.Arg10=)
|
rs765983557
|
0.00001
|
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)
|
rs121908482
|
0.00001
|
NM_014270.5(SLC7A9):c.605-3C>A
|
rs749913021
|
0.00001
|
NM_014270.5(SLC7A9):c.639C>T (p.Gly213=)
|
rs763216072
|
0.00001
|
NM_014270.5(SLC7A9):c.730del (p.Glu244fs)
|
rs760452532
|
0.00001
|
NM_014270.5(SLC7A9):c.88-2A>G
|
rs1085307095
|
0.00001
|
NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu)
|
rs770811201
|
0.00001
|
GRCh37/hg19 2p21(chr2:44507834-44508700)
|
|
|
GRCh37/hg19 2p21(chr2:44527089-44541110)
|
|
|
NC_000002.11:g.(?_44502646)_(44586854_?)del
|
|
|
NC_000002.11:g.(?_44507835)_(44508700_?)del
|
|
|
NC_000002.11:g.(?_44508506)_(44508700_?)dup
|
|
|
NC_000002.11:g.(?_44508506)_(44541110_?)del
|
|
|
NC_000002.11:g.(?_44527090)_(44528286_?)del
|
|
|
NC_000002.11:g.(?_44527090)_(44541110_?)del
|
|
|
NC_000002.11:g.(?_44527090)_(44541110_?)dup
|
|
|
NC_000002.11:g.(?_44527110)_(44545243_?)dup
|
|
|
NC_000002.11:g.(?_44527110)_(44550550_?)del
|
|
|
NC_000002.11:g.(?_44547318)_(44586854_?)del
|
|
|
NC_000002.12:g.(?_44280696)_(44286177_?)del
|
|
|
NC_000002.12:g.(?_44280696)_(44346410_?)del
|
|
|
NC_000002.12:g.(?_44299971)_(44318104_?)del
|
|
|
NC_000002.12:g.(?_44320179)_(44346410_?)del
|
|
|
NC_000002.12:g.44304143del
|
|
|
NG_008233.1:g.17226_17227[ins17227_48142;GTTTGCATAGGCACAGAATGTAT]
|
|
|
NM_000341.3(SLC3A1):c.-65C>T
|
rs886056066
|
|
NM_000341.3(SLC3A1):c.-82T>G
|
rs1671316353
|
|
NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)
|
|
|
NM_000341.4(SLC3A1):c.1010C>T (p.Pro337Leu)
|
|
|
NM_000341.4(SLC3A1):c.1011+3A>G
|
rs1206425661
|
|
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=)
|
rs772810111
|
|
NM_000341.4(SLC3A1):c.1012-11G>A
|
|
|
NM_000341.4(SLC3A1):c.1012-16G>A
|
|
|
NM_000341.4(SLC3A1):c.1012-17C>T
|
|
|
NM_000341.4(SLC3A1):c.1012-3A>G
|
|
|
NM_000341.4(SLC3A1):c.1012-9_1012del
|
rs2104364101
|
|
NM_000341.4(SLC3A1):c.1058C>T (p.Thr353Met)
|
|
|
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs)
|
rs1553344107
|
|
NM_000341.4(SLC3A1):c.1082T>C (p.Val361Ala)
|
|
|
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln)
|
rs567478582
|
|
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)
|
rs567478582
|
|
NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)
|
|
|
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
|
|
|
NM_000341.4(SLC3A1):c.1136+1G>T
|
|
|
NM_000341.4(SLC3A1):c.1136+2T>C
|
|
|
NM_000341.4(SLC3A1):c.1136+3del
|
rs796262035
|
|
NM_000341.4(SLC3A1):c.1136+5A>G
|
rs1671995727
|
|
NM_000341.4(SLC3A1):c.1136+9C>A
|
|
|
NM_000341.4(SLC3A1):c.1137-18C>G
|
|
|
NM_000341.4(SLC3A1):c.1149T>C (p.Thr383=)
|
|
|
NM_000341.4(SLC3A1):c.1157A>C (p.Tyr386Ser)
|
|
|
NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)
|
|
|
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)
|
|
|
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)
|
rs886056069
|
|
NM_000341.4(SLC3A1):c.1216G>T (p.Asp406Tyr)
|
|
|
NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)
|
|
|
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)
|
rs1672093819
|
|
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
|
|
|
NM_000341.4(SLC3A1):c.124G>C (p.Asp42His)
|
rs1671323312
|
|
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
|
|
|
NM_000341.4(SLC3A1):c.1254T>C (p.Thr418=)
|
rs149411180
|
|
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
|
|
|
NM_000341.4(SLC3A1):c.1258T>G (p.Ser420Ala)
|
rs370023281
|
|
NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=)
|
|
|
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs)
|
rs797044609
|
|
NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)
|
|
|
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)
|
|
|
NM_000341.4(SLC3A1):c.1332+18C>T
|
|
|
NM_000341.4(SLC3A1):c.1337G>A (p.Gly446Asp)
|
|
|
NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)
|
|
|
NM_000341.4(SLC3A1):c.1365G>A (p.Ser455=)
|
|
|
NM_000341.4(SLC3A1):c.1365G>T (p.Ser455=)
|
|
|
NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser)
|
rs139251285
|
|
NM_000341.4(SLC3A1):c.1370dup (p.Leu457fs)
|
rs2104383898
|
|
NM_000341.4(SLC3A1):c.1374G>C (p.Gly458=)
|
|
|
NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)
|
|
|
NM_000341.4(SLC3A1):c.1394T>C (p.Met465Thr)
|
|
|
NM_000341.4(SLC3A1):c.13A>G (p.Lys5Glu)
|
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg)
|
rs2104383996
|
|
NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)
|
|
|
NM_000341.4(SLC3A1):c.141C>T (p.Ser47=)
|
|
|
NM_000341.4(SLC3A1):c.1431_1434dup (p.Tyr479fs)
|
|
|
NM_000341.4(SLC3A1):c.1435T>C (p.Tyr479His)
|
|
|
NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=)
|
|
|
NM_000341.4(SLC3A1):c.1494T>C (p.Tyr498=)
|
rs141515737
|
|
NM_000341.4(SLC3A1):c.1495G>T (p.Asp499Tyr)
|
rs886056070
|
|
NM_000341.4(SLC3A1):c.1506C>A (p.Thr502=)
|
|
|
NM_000341.4(SLC3A1):c.1506C>T (p.Thr502=)
|
|
|
NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)
|
|
|
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter)
|
rs2104385536
|
|
NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)
|
|
|
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn)
|
rs387907276
|
|
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs)
|
rs767801148
|
|
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
|
|
|
NM_000341.4(SLC3A1):c.1617+1097T>A
|
rs868118842
|
|
NM_000341.4(SLC3A1):c.1617+1dup
|
rs2104385579
|
|
NM_000341.4(SLC3A1):c.1618-11T>A
|
|
|
NM_000341.4(SLC3A1):c.1618-16T>C
|
|
|
NM_000341.4(SLC3A1):c.1618-5A>T
|
|
|
NM_000341.4(SLC3A1):c.163del (p.Gln55fs)
|
rs779932118
|
|
NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)
|
|
|
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)
|
rs368796166
|
|
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=)
|
rs371537299
|
|
NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)
|
|
|
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys)
|
rs886056067
|
|
NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)
|
|
|
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)
|
rs904926333
|
|
NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)
|
|
|
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly)
|
rs886056072
|
|
NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs)
|
rs1672820246
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)
|
|
|
NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)
|
|
|
NM_000341.4(SLC3A1):c.1812_1813del (p.Leu605fs)
|
|
|
NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)
|
|
|
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)
|
rs1672827519
|
|
NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=)
|
rs376256364
|
|
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=)
|
rs748832562
|
|
NM_000341.4(SLC3A1):c.183del (p.Val62fs)
|
|
|
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)
|
rs698761
|
|
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del)
|
rs886056073
|
|
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
|
|
|
NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala)
|
rs1672839012
|
|
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
|
|
|
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg)
|
rs121912695
|
|
NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=)
|
|
|
NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)
|
|
|
NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)
|
|
|
NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)
|
|
|
NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)
|
|
|
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)
|
rs121912693
|
|
NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)
|
|
|
NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)
|
|
|
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser)
|
rs376615998
|
|
NM_000341.4(SLC3A1):c.256C>T (p.Arg86Trp)
|
|
|
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
|
|
|
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala)
|
rs147701210
|
|
NM_000341.4(SLC3A1):c.292C>A (p.Leu98Met)
|
rs750996109
|
|
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
|
|
|
NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)
|
|
|
NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)
|
|
|
NM_000341.4(SLC3A1):c.339G>A (p.Lys113=)
|
|
|
NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer)
|
rs755432720
|
|
NM_000341.4(SLC3A1):c.360G>A (p.Glu120=)
|
|
|
NM_000341.4(SLC3A1):c.363G>A (p.Gly121=)
|
rs1671332631
|
|
NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)
|
|
|
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
|
|
|
NM_000341.4(SLC3A1):c.430+2T>G
|
rs1558450604
|
|
NM_000341.4(SLC3A1):c.431-11T>G
|
|
|
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)
|
|
|
NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)
|
|
|
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
|
|
|
NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser)
|
rs766140035
|
|
NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu)
|
rs886056068
|
|
NM_000341.4(SLC3A1):c.478G>T (p.Val160Phe)
|
|
|
NM_000341.4(SLC3A1):c.531T>A (p.Val177=)
|
|
|
NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)
|
|
|
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln)
|
rs121912694
|
|
NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)
|
|
|
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys)
|
rs140317484
|
|
NM_000341.4(SLC3A1):c.567G>C (p.Thr189=)
|
rs143195837
|
|
NM_000341.4(SLC3A1):c.610+14A>G
|
|
|
NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)
|
|
|
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)
|
|
|
NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)
|
|
|
NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg)
|
rs369603431
|
|
NM_000341.4(SLC3A1):c.63C>T (p.Asn21=)
|
rs1313555896
|
|
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter)
|
rs542026439
|
|
NM_000341.4(SLC3A1):c.673T>G (p.Leu225Val)
|
rs753086483
|
|
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp)
|
rs758636942
|
|
NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)
|
|
|
NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)
|
|
|
NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)
|
|
|
NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
|
|
|
NM_000341.4(SLC3A1):c.765+15G>A
|
|
|
NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)
|
|
|
NM_000341.4(SLC3A1):c.766-4C>G
|
|
|
NM_000341.4(SLC3A1):c.774_775del (p.Tyr259fs)
|
|
|
NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs)
|
rs747035900
|
|
NM_000341.4(SLC3A1):c.789T>C (p.Ser263=)
|
|
|
NM_000341.4(SLC3A1):c.801C>T (p.Asp267=)
|
|
|
NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
|
|
|
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val)
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rs933907652
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NM_000341.4(SLC3A1):c.891+2T>C
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rs2104342335
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NM_000341.4(SLC3A1):c.891+4A>G
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NM_000341.4(SLC3A1):c.892-13T>G
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NM_000341.4(SLC3A1):c.892-17del
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NM_000341.4(SLC3A1):c.894A>G (p.Glu298=)
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rs1671960853
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NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
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NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
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NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter)
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rs768222969
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NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
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NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp)
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rs1671962088
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NM_014270.5(SLC7A9):c.*77T>C
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rs886054327
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NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)
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NM_014270.5(SLC7A9):c.1112_1113del (p.Ile371fs)
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rs772235897
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NM_014270.5(SLC7A9):c.120G>A (p.Val40=)
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rs140179068
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NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)
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NM_014270.5(SLC7A9):c.1224+4167_1324del
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NM_014270.5(SLC7A9):c.1242C>A (p.Pro414=)
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rs536084711
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NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs)
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rs753692696
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NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs)
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rs779653925
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NM_014270.5(SLC7A9):c.1276C>T (p.Leu426=)
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rs760033221
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NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)
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rs988712826
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NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)
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rs121908485
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NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)
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rs1007096305
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NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)
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NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter)
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rs1967855547
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NM_014270.5(SLC7A9):c.1399+4_1399+7del
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rs747593886
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NM_014270.5(SLC7A9):c.1400-2A>G
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rs2145788754
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NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)
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NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)
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rs753121162
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NM_014270.5(SLC7A9):c.235+1del
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NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)
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NM_014270.5(SLC7A9):c.265del (p.Thr88_Met89insTer)
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rs2145846311
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NM_014270.5(SLC7A9):c.335dup (p.Ser113fs)
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NM_014270.5(SLC7A9):c.348C>G (p.Ser116Arg)
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rs1968893018
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NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)
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rs12150890
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NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs)
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rs774124697
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NM_014270.5(SLC7A9):c.450_452del (p.Val151del)
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rs1294838201
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NM_014270.5(SLC7A9):c.460_471del (p.Leu154_Ala157del)
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rs1968887418
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NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)
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NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)
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rs121908479
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NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)
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NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)
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NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)
|
rs745319034
|
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NM_014270.5(SLC7A9):c.749+1G>C
|
rs1060499787
|
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NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)
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rs121908483
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NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)
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NM_014270.5(SLC7A9):c.968C>T (p.Thr323Ile)
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rs1968692991
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NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val)
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rs768466784
|
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NM_016343.4(CENPF):c.997_1012del (p.Glu333fs)
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rs1657525413
|
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Single allele
|
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