NM_000341.4(SLC3A1):c.114A>C (p.Gly38=)
|
rs3738985
|
0.75388
|
NM_000341.4(SLC3A1):c.1332+7C>T
|
rs3738984
|
0.61143
|
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_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_000341.4(SLC3A1):c.1398C>T (p.Asn466=)
|
rs140821819
|
0.00211
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_000341.4(SLC3A1):c.1333-12T>A
|
rs183158004
|
0.00150
|
NM_000341.4(SLC3A1):c.672A>G (p.Gln224=)
|
rs140331858
|
0.00121
|
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_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)
|
rs143740561
|
0.00051
|
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_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)
|
rs200436145
|
0.00039
|
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val)
|
rs138597262
|
0.00037
|
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_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)
|
rs200483989
|
0.00019
|
NM_000341.4(SLC3A1):c.901C>T (p.Arg301Trp)
|
rs200001296
|
0.00019
|
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His)
|
rs375237049
|
0.00016
|
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr)
|
rs201989712
|
0.00014
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
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_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.1084C>T (p.Arg362Cys)
|
rs375399468
|
0.00006
|
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val)
|
rs200093674
|
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.1125C>T (p.Pro375=)
|
rs760943092
|
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.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.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.1098G>C (p.Gln366His)
|
rs745473969
|
0.00001
|
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=)
|
rs772223467
|
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.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.1406T>G (p.Leu469Arg)
|
rs1469809535
|
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.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.67G>A (p.Gly23Arg)
|
rs750919380
|
0.00001
|
NM_000341.4(SLC3A1):c.892-9C>T
|
rs1335328608
|
0.00001
|
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
|
|
|
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.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.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+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.1200A>G (p.Pro400=)
|
rs886056069
|
|
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
|
|
|
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
|
|
|
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
|
|
|
NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=)
|
|
|
NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)
|
|
|
NM_000341.4(SLC3A1):c.1332+18C>T
|
|
|
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.1374G>C (p.Gly458=)
|
|
|
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.1435T>C (p.Tyr479His)
|
|
|
NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=)
|
|
|
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.1603_1604del (p.Thr535fs)
|
rs767801148
|
|
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
|
|
|
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.1653A>G (p.Leu551=)
|
|
|
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.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.1812_1813del (p.Leu605fs)
|
|
|
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.1854G>A (p.Met618Ile)
|
rs698761
|
|
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
|
|
|
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
|
|
|
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.2054G>A (p.Cys685Tyr)
|
|
|
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
|
|
|
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala)
|
rs147701210
|
|
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
|
|
|
NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)
|
|
|
NM_000341.4(SLC3A1):c.339G>A (p.Lys113=)
|
|
|
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.438A>T (p.Gln146His)
|
|
|
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
|
|
|
NM_000341.4(SLC3A1):c.531T>A (p.Val177=)
|
|
|
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.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)
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NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
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NM_000341.4(SLC3A1):c.765+15G>A
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NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)
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NM_000341.4(SLC3A1):c.766-4C>G
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NM_000341.4(SLC3A1):c.774_775del (p.Tyr259fs)
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NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs)
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rs747035900
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NM_000341.4(SLC3A1):c.789T>C (p.Ser263=)
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NM_000341.4(SLC3A1):c.801C>T (p.Asp267=)
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NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
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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.892-13T>G
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NM_000341.4(SLC3A1):c.892-17del
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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.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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