ClinVar Miner

List of variants studied for Congenital disorder of glycosylation, type IAA by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 358
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HGVS dbSNP gnomAD frequency
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro) rs539668656 0.00122
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) rs150646335 0.00111
NM_138459.5(NUS1):c.63G>T (p.Thr21=) rs550854234 0.00065
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu) rs146171115 0.00038
NM_138459.5(NUS1):c.537T>A (p.Asp179Glu) rs28362519 0.00030
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn) rs761121795 0.00029
NM_138459.5(NUS1):c.69C>G (p.Thr23=) rs568916715 0.00022
NM_138459.5(NUS1):c.578C>T (p.Pro193Leu) rs146009370 0.00021
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu) rs557867164 0.00020
NM_138459.5(NUS1):c.648G>A (p.Lys216=) rs148404018 0.00016
NM_138459.5(NUS1):c.246C>G (p.His82Gln) rs1023259853 0.00015
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys) rs150953098 0.00012
NM_138459.5(NUS1):c.318C>T (p.Thr106=) rs573584810 0.00011
NM_138459.5(NUS1):c.732C>T (p.Phe244=) rs142549647 0.00011
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser) rs779673665 0.00009
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) rs1052237 0.00009
NM_138459.5(NUS1):c.144C>T (p.Val48=) rs767517042 0.00007
NM_138459.5(NUS1):c.791+17G>A rs185389978 0.00007
NM_138459.5(NUS1):c.691+11T>A rs201025128 0.00006
NM_138459.5(NUS1):c.699T>C (p.Asn233=) rs746621138 0.00006
NM_138459.5(NUS1):c.792-15G>A rs199793068 0.00006
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe) rs896791770 0.00005
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro) rs1459946325 0.00005
NM_138459.5(NUS1):c.561A>T (p.Ala187=) rs767054326 0.00005
NM_138459.5(NUS1):c.621T>C (p.Phe207=) rs139972165 0.00005
NM_138459.5(NUS1):c.288G>A (p.Lys96=) rs566608977 0.00004
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile) rs747953460 0.00004
NM_138459.5(NUS1):c.822T>C (p.Tyr274=) rs759399174 0.00004
NM_138459.5(NUS1):c.870T>G (p.Arg290=) rs529109392 0.00004
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys) rs931066153 0.00003
NM_138459.5(NUS1):c.204C>T (p.His68=) rs1431408978 0.00003
NM_138459.5(NUS1):c.301A>G (p.Met101Val) rs988797644 0.00003
NM_138459.5(NUS1):c.307C>G (p.Leu103Val) rs533893099 0.00003
NM_138459.5(NUS1):c.445A>G (p.Met149Val) rs1276753307 0.00003
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly) rs765038821 0.00003
NM_138459.5(NUS1):c.692-19G>A rs754104717 0.00003
NM_138459.5(NUS1):c.6G>C (p.Thr2=) rs753550769 0.00003
NM_138459.5(NUS1):c.791+16_791+17insTTTGTTTAGATTCA rs1201766536 0.00003
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr) rs1039640812 0.00002
NM_138459.5(NUS1):c.138C>G (p.Ala46=) rs1259495362 0.00002
NM_138459.5(NUS1):c.153G>T (p.Pro51=) rs868271796 0.00002
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser) rs1433668009 0.00002
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro) rs1198106267 0.00002
NM_138459.5(NUS1):c.243A>G (p.Ala81=) rs1488857538 0.00002
NM_138459.5(NUS1):c.324G>A (p.Val108=) rs769619847 0.00002
NM_138459.5(NUS1):c.416-11C>T rs766110376 0.00002
NM_138459.5(NUS1):c.489T>C (p.Asp163=) rs772319851 0.00002
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg) rs771454891 0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) rs774553541 0.00002
NM_138459.5(NUS1):c.791+19_791+20insAT rs1239155154 0.00002
NM_138459.5(NUS1):c.796T>C (p.Leu266=) rs1469555168 0.00002
NM_138459.5(NUS1):c.90C>T (p.Phe30=) rs1456601831 0.00002
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg) rs1287068904 0.00002
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp) rs934670535 0.00001
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr) rs759672395 0.00001
NM_138459.5(NUS1):c.154C>G (p.Leu52Val) rs1472312886 0.00001
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp) rs1379290530 0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 0.00001
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser) rs764639190 0.00001
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser) rs1436843770 0.00001
NM_138459.5(NUS1):c.185T>G (p.Val62Gly) rs754191035 0.00001
NM_138459.5(NUS1):c.195C>T (p.Asn65=) rs890763763 0.00001
NM_138459.5(NUS1):c.202C>T (p.His68Tyr) rs1392977734 0.00001
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln) rs1006753900 0.00001
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu) rs1294744875 0.00001
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu) rs898267866 0.00001
NM_138459.5(NUS1):c.24G>A (p.Val8=) rs745434007 0.00001
NM_138459.5(NUS1):c.262C>T (p.Arg88Cys) rs1426327353 0.00001
NM_138459.5(NUS1):c.264C>T (p.Arg88=) rs959021329 0.00001
NM_138459.5(NUS1):c.270C>T (p.Asp90=) rs1157289148 0.00001
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr) rs746969718 0.00001
NM_138459.5(NUS1):c.279C>T (p.Ser93=) rs1298752813 0.00001
NM_138459.5(NUS1):c.280T>C (p.Leu94=) rs1361735334 0.00001
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp) rs1473876877 0.00001
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln) rs1369494529 0.00001
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser) rs1464231854 0.00001
NM_138459.5(NUS1):c.313A>G (p.Ile105Val) rs555373875 0.00001
NM_138459.5(NUS1):c.330G>A (p.Gln110=) rs1414061827 0.00001
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg) rs540846579 0.00001
NM_138459.5(NUS1):c.336C>T (p.Pro112=) rs1431777917 0.00001
NM_138459.5(NUS1):c.351C>G (p.Ile117Met) rs1344911571 0.00001
NM_138459.5(NUS1):c.354G>C (p.Ala118=) rs1456838164 0.00001
NM_138459.5(NUS1):c.378C>T (p.Ala126=) rs774571642 0.00001
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp) rs1283480592 0.00001
NM_138459.5(NUS1):c.39C>T (p.His13=) rs1322721857 0.00001
NM_138459.5(NUS1):c.402C>T (p.Val134=) rs769107043 0.00001
NM_138459.5(NUS1):c.415+9C>T rs1772975415 0.00001
NM_138459.5(NUS1):c.416-10T>C rs751156157 0.00001
NM_138459.5(NUS1):c.416-9T>G rs1328227461 0.00001
NM_138459.5(NUS1):c.446T>C (p.Met149Thr) rs755890798 0.00001
NM_138459.5(NUS1):c.46C>T (p.Leu16Phe) rs962512059 0.00001
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro) rs1475841573 0.00001
NM_138459.5(NUS1):c.524A>G (p.Asn175Ser) rs1438675724 0.00001
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu) rs751210637 0.00001
NM_138459.5(NUS1):c.540A>G (p.Gln180=) rs758984555 0.00001
NM_138459.5(NUS1):c.541+19T>C rs756091140 0.00001
NM_138459.5(NUS1):c.542-9T>C rs773851832 0.00001
NM_138459.5(NUS1):c.567G>A (p.Lys189=) rs1773280846 0.00001
NM_138459.5(NUS1):c.579G>A (p.Pro193=) rs753713015 0.00001
NM_138459.5(NUS1):c.580G>A (p.Glu194Lys) rs1314561700 0.00001
NM_138459.5(NUS1):c.585T>C (p.Asp195=) rs1282957593 0.00001
NM_138459.5(NUS1):c.598A>G (p.Ile200Val) rs751755046 0.00001
NM_138459.5(NUS1):c.599T>C (p.Ile200Thr) rs755280454 0.00001
NM_138459.5(NUS1):c.601G>A (p.Val201Ile) rs1238998019 0.00001
NM_138459.5(NUS1):c.627G>T (p.Gln209His) rs1279878128 0.00001
NM_138459.5(NUS1):c.669A>T (p.Val223=) rs1226886047 0.00001
NM_138459.5(NUS1):c.672T>C (p.Asp224=) rs772889914 0.00001
NM_138459.5(NUS1):c.674C>T (p.Thr225Met) rs760187558 0.00001
NM_138459.5(NUS1):c.675G>A (p.Thr225=) rs763523987 0.00001
NM_138459.5(NUS1):c.681C>G (p.Ala227=) rs1773283482 0.00001
NM_138459.5(NUS1):c.691+13A>T rs1303197797 0.00001
NM_138459.5(NUS1):c.698A>G (p.Asn233Ser) rs1198292880 0.00001
NM_138459.5(NUS1):c.765C>T (p.Pro255=) rs769839644 0.00001
NM_138459.5(NUS1):c.787A>G (p.Ile263Val) rs1773460765 0.00001
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) rs1562183021 0.00001
NM_138459.5(NUS1):c.792-16C>T rs1049247260 0.00001
NM_138459.5(NUS1):c.792-17C>T rs146457283 0.00001
NM_138459.5(NUS1):c.792-18C>T rs571735150 0.00001
NM_138459.5(NUS1):c.798G>A (p.Leu266=) rs943172341 0.00001
NM_138459.5(NUS1):c.805C>T (p.His269Tyr) rs1038995750 0.00001
NM_138459.5(NUS1):c.845G>A (p.Arg282His) rs140791750 0.00001
NC_000006.11:g.(?_116441236)_(119252888_?)del
NC_000006.11:g.(?_117786180)_(117997268_?)dup
NC_000006.11:g.(?_117996834)_(117997268_?)del
NC_000006.11:g.(?_117996834)_(118028178_?)del
NC_000006.11:g.(?_118014185)_(118014350_?)del
NC_000006.11:g.(?_118028088)_(118028178_?)del
NM_138459.5(NUS1):c.-118_159del (p.Met1fs) rs2481981792
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys) rs1251248891
NM_138459.5(NUS1):c.106A>T (p.Ile36Phe)
NM_138459.5(NUS1):c.108C>G (p.Ile36Met) rs1396393146
NM_138459.5(NUS1):c.110G>A (p.Trp37Ter) rs2481982643
NM_138459.5(NUS1):c.111del (p.Trp37fs)
NM_138459.5(NUS1):c.112C>T (p.Arg38Trp)
NM_138459.5(NUS1):c.114G>C (p.Arg38=) rs2481982653
NM_138459.5(NUS1):c.117C>G (p.Arg39=) rs1333336720
NM_138459.5(NUS1):c.117C>T (p.Arg39=) rs1333336720
NM_138459.5(NUS1):c.119_132dup (p.Ser45fs) rs2481982674
NM_138459.5(NUS1):c.120C>T (p.Cys40=) rs2481982676
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp) rs914678907
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys) rs1288388432
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro) rs1772965082
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr) rs1327892878
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro) rs1238893479
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro) rs2481982726
NM_138459.5(NUS1):c.13T>C (p.Tyr5His)
NM_138459.5(NUS1):c.14A>T (p.Tyr5Phe)
NM_138459.5(NUS1):c.156C>G (p.Leu52=) rs1156758598
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter) rs1449400618
NM_138459.5(NUS1):c.15C>T (p.Tyr5=)
NM_138459.5(NUS1):c.165G>A (p.Thr55=) rs1582461150
NM_138459.5(NUS1):c.16G>T (p.Glu6Ter)
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu) rs1308278410
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala) rs1436843770
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del) rs2481982213
NM_138459.5(NUS1):c.180G>A (p.Pro60=) rs1772967652
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp) rs2481982226
NM_138459.5(NUS1):c.196_197delinsGA (p.Arg66Asp)
NM_138459.5(NUS1):c.197G>A (p.Arg66His) rs539668656
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys) rs1433668009
NM_138459.5(NUS1):c.213C>T (p.His71=)
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr) rs1460197813
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser) rs1460197813
NM_138459.5(NUS1):c.216G>A (p.Pro72=) rs1367734310
NM_138459.5(NUS1):c.217C>T (p.Arg73Cys)
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp) rs1041259462
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp) rs2481983114
NM_138459.5(NUS1):c.225G>C (p.Gly75=) rs1275865562
NM_138459.5(NUS1):c.225del (p.Ser76fs) rs2481983107
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala) rs2481983138
NM_138459.5(NUS1):c.22G>C (p.Val8Leu)
NM_138459.5(NUS1):c.22G>T (p.Val8Leu) rs778592524
NM_138459.5(NUS1):c.231C>T (p.Cys77=) rs2481983157
NM_138459.5(NUS1):c.234_280dup (p.Leu94fs) rs2481983161
NM_138459.5(NUS1):c.236C>T (p.Ala79Val) rs1202740714
NM_138459.5(NUS1):c.240C>A (p.Ala80=) rs1010151368
NM_138459.5(NUS1):c.240C>G (p.Ala80=) rs1010151368
NM_138459.5(NUS1):c.245A>T (p.His82Leu)
NM_138459.5(NUS1):c.249C>T (p.His83=) rs1772970629
NM_138459.5(NUS1):c.24G>T (p.Val8=) rs745434007
NM_138459.5(NUS1):c.250dup (p.Arg84fs) rs2481983215
NM_138459.5(NUS1):c.251G>A (p.Arg84Gln)
NM_138459.5(NUS1):c.254T>A (p.Met85Lys) rs757989392
NM_138459.5(NUS1):c.259T>G (p.Trp87Gly)
NM_138459.5(NUS1):c.268G>A (p.Asp90Asn)
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser) rs1035585867
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly) rs1035585867
NM_138459.5(NUS1):c.276T>C (p.Arg92=) rs2481983358
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala) rs746969718
NM_138459.5(NUS1):c.290T>A (p.Leu97Gln)
NM_138459.5(NUS1):c.291G>A (p.Leu97=) rs1322627179
NM_138459.5(NUS1):c.295G>T (p.Val99Leu)
NM_138459.5(NUS1):c.299A>C (p.His100Pro) rs1772972548
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys) rs2481982311
NM_138459.5(NUS1):c.302T>C (p.Met101Thr) rs1335361386
NM_138459.5(NUS1):c.308T>G (p.Leu103Arg) rs2481983597
NM_138459.5(NUS1):c.30G>A (p.Arg10=) rs937504375
NM_138459.5(NUS1):c.30G>T (p.Arg10=) rs937504375
NM_138459.5(NUS1):c.312G>A (p.Val104=)
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg) rs2481983725
NM_138459.5(NUS1):c.342C>T (p.Phe114=)
NM_138459.5(NUS1):c.346G>C (p.Asp116His) rs1321831305
NM_138459.5(NUS1):c.351C>T (p.Ile117=) rs1344911571
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser) rs2481983813
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu) rs2114674826
NM_138459.5(NUS1):c.354G>A (p.Ala118=) rs1456838164
NM_138459.5(NUS1):c.358C>G (p.Leu120Val)
NM_138459.5(NUS1):c.360C>A (p.Leu120=) rs1772974013
NM_138459.5(NUS1):c.362T>C (p.Val121Ala)
NM_138459.5(NUS1):c.368_372del (p.Trp123fs) rs2481983841
NM_138459.5(NUS1):c.36G>A (p.Leu12=) rs2114674325
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser) rs2481983858
NM_138459.5(NUS1):c.372T>C (p.Cys124=)
NM_138459.5(NUS1):c.378del (p.Val127fs) rs2481983883
NM_138459.5(NUS1):c.384C>T (p.Gly128=)
NM_138459.5(NUS1):c.385A>G (p.Ile129Val) rs2481983925
NM_138459.5(NUS1):c.390C>G (p.Ser130=) rs2481983928
NM_138459.5(NUS1):c.390C>T (p.Ser130=) rs2481983928
NM_138459.5(NUS1):c.393C>T (p.Tyr131=) rs1485120199
NM_138459.5(NUS1):c.3G>A (p.Met1Ile) rs2481982177
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg) rs2114674884
NM_138459.5(NUS1):c.415+14C>T
NM_138459.5(NUS1):c.415+15G>A
NM_138459.5(NUS1):c.415+1G>A rs1772975334
NM_138459.5(NUS1):c.415+20T>C
NM_138459.5(NUS1):c.415+20T>G
NM_138459.5(NUS1):c.415+2T>G rs2481984001
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser) rs2481983998
NM_138459.5(NUS1):c.416-17del
NM_138459.5(NUS1):c.416-23_416-7del rs780531527
NM_138459.5(NUS1):c.416-6T>C rs754507170
NM_138459.5(NUS1):c.416-6T>G rs754507170
NM_138459.5(NUS1):c.416G>A (p.Gly139Asp) rs2114686687
NM_138459.5(NUS1):c.417T>C (p.Gly139=) rs1275379997
NM_138459.5(NUS1):c.418A>G (p.Ile140Val) rs2482014003
NM_138459.5(NUS1):c.420T>G (p.Ile140Met) rs1263100166
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys) rs1773263886
NM_138459.5(NUS1):c.427del (p.Arg143fs)
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr) rs1231790695
NM_138459.5(NUS1):c.459A>G (p.Leu153=) rs2114686717
NM_138459.5(NUS1):c.45G>C (p.Leu15=) rs1015363741
NM_138459.5(NUS1):c.45G>T (p.Leu15=) rs1015363741
NM_138459.5(NUS1):c.469C>G (p.Gln157Glu)
NM_138459.5(NUS1):c.470A>G (p.Gln157Arg)
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe) rs915423342
NM_138459.5(NUS1):c.480G>A (p.Leu160=) rs2114686734
NM_138459.5(NUS1):c.482G>A (p.Gly161Asp)
NM_138459.5(NUS1):c.482del (p.Gly161fs) rs2482014199
NM_138459.5(NUS1):c.483C>A (p.Gly161=)
NM_138459.5(NUS1):c.487G>C (p.Asp163His) rs369403261
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn) rs1392457084
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg) rs1245004786
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys) rs2482014246
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala) rs1475841573
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys) rs1773265457
NM_138459.5(NUS1):c.519T>C (p.Asn173=) rs2482014291
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn) rs2482014298
NM_138459.5(NUS1):c.523A>G (p.Asn175Asp) rs28362518
NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr) rs28362518
NM_138459.5(NUS1):c.52C>G (p.Leu18Val) rs1772962465
NM_138459.5(NUS1):c.541+10A>C rs1051471000
NM_138459.5(NUS1):c.541+5G>A
NM_138459.5(NUS1):c.541+5G>T rs1253384171
NM_138459.5(NUS1):c.541+8T>C rs1250234517
NM_138459.5(NUS1):c.542-14_542-11del rs777604444
NM_138459.5(NUS1):c.542-1G>T rs2482015846
NM_138459.5(NUS1):c.542-20T>C rs2482015796
NM_138459.5(NUS1):c.542-9T>A rs773851832
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser) rs2114687377
NM_138459.5(NUS1):c.550T>G (p.Cys184Gly)
NM_138459.5(NUS1):c.554A>T (p.His185Leu) rs1474271739
NM_138459.5(NUS1):c.565A>T (p.Lys189Ter) rs2482015901
NM_138459.5(NUS1):c.56A>T (p.His19Leu) rs1225757804
NM_138459.5(NUS1):c.573G>A (p.Leu191=) rs1052232
NM_138459.5(NUS1):c.573G>T (p.Leu191=) rs1052232
NM_138459.5(NUS1):c.577C>G (p.Pro193Ala) rs1562179355
NM_138459.5(NUS1):c.57C>G (p.His19Gln) rs974335534
NM_138459.5(NUS1):c.57C>T (p.His19=) rs974335534
NM_138459.5(NUS1):c.58C>G (p.Arg20Gly)
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala) rs765038821
NM_138459.5(NUS1):c.59G>C (p.Arg20Pro) rs529145043
NM_138459.5(NUS1):c.5C>T (p.Thr2Met)
NM_138459.5(NUS1):c.601G>T (p.Val201Leu) rs1238998019
NM_138459.5(NUS1):c.612T>C (p.Ala204=) rs1382268428
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu) rs2114687441
NM_138459.5(NUS1):c.627G>A (p.Gln209=) rs1279878128
NM_138459.5(NUS1):c.62C>T (p.Thr21Met)
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser) rs1773282344
NM_138459.5(NUS1):c.63G>C (p.Thr21=) rs550854234
NM_138459.5(NUS1):c.643C>A (p.Gln215Lys)
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu) rs2482016145
NM_138459.5(NUS1):c.650G>T (p.Arg217Ile) rs375663235
NM_138459.5(NUS1):c.66C>A (p.Leu22=) rs1772962927
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly) rs2114687510
NM_138459.5(NUS1):c.676T>C (p.Leu226=) rs1773283339
NM_138459.5(NUS1):c.679G>C (p.Ala227Pro) rs2482016216
NM_138459.5(NUS1):c.684T>A (p.Ser228Arg) rs2482016239
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del) rs1772963203
NM_138459.5(NUS1):c.691+12T>A rs761687791
NM_138459.5(NUS1):c.691+12T>G rs761687791
NM_138459.5(NUS1):c.691+12TA[7] rs770616856
NM_138459.5(NUS1):c.691+12dup rs1241006666
NM_138459.5(NUS1):c.691+19A>G rs1342549880
NM_138459.5(NUS1):c.691+2T>C
NM_138459.5(NUS1):c.691+7T>G rs1373920649
NM_138459.5(NUS1):c.691+8T>G rs2482016267
NM_138459.5(NUS1):c.692-18TATT[2] rs1773459624
NM_138459.5(NUS1):c.692-1G>C
NM_138459.5(NUS1):c.692-2A>G rs2114693876
NM_138459.5(NUS1):c.695C>G (p.Ser232Ter) rs2482032088
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_138459.5(NUS1):c.719T>G (p.Leu240Ter) rs2114693896
NM_138459.5(NUS1):c.71C>T (p.Ser24Phe)
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly) rs2114693915
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter) rs1772963498
NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter) rs2114674385
NM_138459.5(NUS1):c.750A>G (p.Thr250=) rs1231052686
NM_138459.5(NUS1):c.756C>T (p.Gly252=) rs2482032204
NM_138459.5(NUS1):c.758T>C (p.Phe253Ser) rs2482032210
NM_138459.5(NUS1):c.762T>G (p.Leu254=) rs2114693923
NM_138459.5(NUS1):c.765_769dup (p.His257fs) rs2114693926
NM_138459.5(NUS1):c.76C>T (p.Leu26Phe) rs1188432185
NM_138459.5(NUS1):c.788T>C (p.Ile263Thr) rs2482032255
NM_138459.5(NUS1):c.791+16C>G rs1024202113
NM_138459.5(NUS1):c.791+16C>T rs1024202113
NM_138459.5(NUS1):c.791+6T>C rs2482032266
NM_138459.5(NUS1):c.791+7A>G rs749556280
NM_138459.5(NUS1):c.791+7A>T rs749556280
NM_138459.5(NUS1):c.791+9_791+12del rs1213017281
NM_138459.5(NUS1):c.792-13G>T rs1185248187
NM_138459.5(NUS1):c.792-19C>T rs374744834
NM_138459.5(NUS1):c.792-20C>T rs1582478648
NM_138459.5(NUS1):c.792-3C>G rs1344996560
NM_138459.5(NUS1):c.794C>G (p.Ser265Cys)
NM_138459.5(NUS1):c.7G>A (p.Gly3Arg) rs1772960680
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) rs1554202852
NM_138459.5(NUS1):c.807C>T (p.His269=) rs2482037853
NM_138459.5(NUS1):c.810A>G (p.Leu270=) rs2482037861
NM_138459.5(NUS1):c.825G>A (p.Glu275=) rs2482037898
NM_138459.5(NUS1):c.828C>T (p.Asp276=) rs1291572391
NM_138459.5(NUS1):c.836_837dup (p.Ala280fs) rs2482037920
NM_138459.5(NUS1):c.842T>C (p.Leu281Pro) rs2482037951
NM_138459.5(NUS1):c.843T>G (p.Leu281=) rs1582478741
NM_138459.5(NUS1):c.844C>G (p.Arg282Gly) rs150953098
NM_138459.5(NUS1):c.849A>G (p.Gln283=) rs550676
NM_138459.5(NUS1):c.867G>A (p.Gln289=) rs2482038015
NM_138459.5(NUS1):c.868C>T (p.Arg290Cys) rs2114696019
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.875G>A (p.Gly292Glu) rs2482038040
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp) rs2114696027
NM_138459.5(NUS1):c.882G>A (p.Ter294=) rs2482038052
NM_138459.5(NUS1):c.89T>G (p.Phe30Cys)
NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle) rs2481982584
NM_138459.5(NUS1):c.94A>G (p.Thr32Ala) rs1194515810
NM_138459.5(NUS1):c.94_101del (p.Thr32fs) rs2481982600
NM_138459.5(NUS1):c.95C>T (p.Thr32Ile) rs2481982603
NM_138459.5(NUS1):c.99dup (p.Asn34fs) rs1582461023

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