ClinVar Miner

List of variants studied for Cystinuria

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ClinVar version:
Total variants: 418
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HGVS dbSNP gnomAD frequency
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) rs933907652
NM_000341.4(SLC3A1):c.891+2T>C rs2104342335
NM_000341.4(SLC3A1):c.891+4A>G
NM_000341.4(SLC3A1):c.892-13T>G
NM_000341.4(SLC3A1):c.892-17del
NM_000341.4(SLC3A1):c.894A>G (p.Glu298=) rs1671960853
NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter) rs768222969
NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp) rs1671962088
NM_014270.5(SLC7A9):c.*77T>C rs886054327
NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)
NM_014270.5(SLC7A9):c.1112_1113del (p.Ile371fs) rs772235897
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)
NM_014270.5(SLC7A9):c.1224+4167_1324del
NM_014270.5(SLC7A9):c.1242C>A (p.Pro414=) rs536084711
NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs) rs753692696
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs) rs779653925
NM_014270.5(SLC7A9):c.1276C>T (p.Leu426=) rs760033221
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter) rs988712826
NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr) rs121908485
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) rs1007096305
NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)
NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter) rs1967855547
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014270.5(SLC7A9):c.1400-2A>G rs2145788754
NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=) rs753121162
NM_014270.5(SLC7A9):c.235+1del
NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)
NM_014270.5(SLC7A9):c.265del (p.Thr88_Met89insTer) rs2145846311
NM_014270.5(SLC7A9):c.335dup (p.Ser113fs)
NM_014270.5(SLC7A9):c.348C>G (p.Ser116Arg) rs1968893018
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp) rs12150890
NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs) rs774124697
NM_014270.5(SLC7A9):c.450_452del (p.Val151del) rs1294838201
NM_014270.5(SLC7A9):c.460_471del (p.Leu154_Ala157del) rs1968887418
NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met) rs121908479
NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)
NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg) rs121908483
NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)
NM_014270.5(SLC7A9):c.968C>T (p.Thr323Ile) rs1968692991
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val) rs768466784
NM_016343.4(CENPF):c.997_1012del (p.Glu333fs) rs1657525413
Single allele

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