NM_138459.5(NUS1):c.-16T>C
|
rs9767451
|
0.94753
|
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro)
|
rs539668656
|
0.00122
|
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)
|
rs150646335
|
0.00116
|
NM_138459.5(NUS1):c.63G>T (p.Thr21=)
|
rs550854234
|
0.00065
|
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)
|
rs146171115
|
0.00039
|
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.578C>T (p.Pro193Leu)
|
rs146009370
|
0.00023
|
NM_138459.5(NUS1):c.69C>G (p.Thr23=)
|
rs568916715
|
0.00022
|
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu)
|
rs557867164
|
0.00020
|
NM_138459.5(NUS1):c.805C>T (p.His269Tyr)
|
rs1038995750
|
0.00013
|
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.629T>C (p.Leu210Ser)
|
rs1052237
|
0.00009
|
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser)
|
rs779673665
|
0.00007
|
NM_138459.5(NUS1):c.791+17G>A
|
rs185389978
|
0.00007
|
NM_138459.5(NUS1):c.144C>T (p.Val48=)
|
rs767517042
|
0.00006
|
NM_138459.5(NUS1):c.246C>G (p.His82Gln)
|
rs1023259853
|
0.00006
|
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.288G>A (p.Lys96=)
|
rs566608977
|
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.445A>G (p.Met149Val)
|
rs1276753307
|
0.00003
|
NM_138459.5(NUS1):c.692-19G>A
|
rs754104717
|
0.00003
|
NM_138459.5(NUS1):c.791+16_791+17insTTTGTTTAGATTCA
|
rs1201766536
|
0.00003
|
NM_138459.5(NUS1):c.791+19_791+20insAT
|
rs1239155154
|
0.00003
|
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.324G>A (p.Val108=)
|
rs769619847
|
0.00002
|
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg)
|
rs771454891
|
0.00002
|
NM_138459.5(NUS1):c.674C>T (p.Thr225Met)
|
rs760187558
|
0.00002
|
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys)
|
rs774553541
|
0.00002
|
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp)
|
rs934670535
|
0.00001
|
NM_138459.5(NUS1):c.154C>G (p.Leu52Val)
|
rs1472312886
|
0.00001
|
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln)
|
rs1374617888
|
0.00001
|
NM_138459.5(NUS1):c.185T>G (p.Val62Gly)
|
rs754191035
|
0.00001
|
NM_138459.5(NUS1):c.202C>T (p.His68Tyr)
|
rs1392977734
|
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.279C>T (p.Ser93=)
|
rs1298752813
|
0.00001
|
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln)
|
rs1369494529
|
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.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.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.46C>T (p.Leu16Phe)
|
rs962512059
|
0.00001
|
NM_138459.5(NUS1):c.487G>C (p.Asp163His)
|
rs369403261
|
0.00001
|
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu)
|
rs751210637
|
0.00001
|
NM_138459.5(NUS1):c.541+19T>C
|
rs756091140
|
0.00001
|
NM_138459.5(NUS1):c.579G>A (p.Pro193=)
|
rs753713015
|
0.00001
|
NM_138459.5(NUS1):c.601G>A (p.Val201Ile)
|
rs1238998019
|
0.00001
|
NM_138459.5(NUS1):c.672T>C (p.Asp224=)
|
rs772889914
|
0.00001
|
NM_138459.5(NUS1):c.675G>A (p.Thr225=)
|
rs763523987
|
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.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.798G>A (p.Leu266=)
|
rs943172341
|
0.00001
|
NM_138459.5(NUS1):c.845G>A (p.Arg282His)
|
rs140791750
|
0.00001
|
NC_000006.11:g.(?_117996834)_(117997268_?)del
|
|
|
NC_000006.11:g.(?_118014185)_(118014350_?)del
|
|
|
NC_000006.11:g.(?_118028088)_(118028178_?)del
|
|
|
NM_138459.5(NUS1):c.-118_159del (p.Met1fs)
|
|
|
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
|
|
|
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
|
|
|
NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)
|
|
|
NM_138459.5(NUS1):c.114G>C (p.Arg38=)
|
|
|
NM_138459.5(NUS1):c.117C>G (p.Arg39=)
|
|
|
NM_138459.5(NUS1):c.117C>T (p.Arg39=)
|
rs1333336720
|
|
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
|
|
|
NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)
|
|
|
NM_138459.5(NUS1):c.120C>T (p.Cys40=)
|
|
|
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp)
|
rs914678907
|
|
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
|
|
|
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
|
|
|
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr)
|
rs1327892878
|
|
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
|
|
|
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
|
|
|
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
|
|
|
NM_138459.5(NUS1):c.138C>G (p.Ala46=)
|
|
|
NM_138459.5(NUS1):c.156C>G (p.Leu52=)
|
|
|
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
|
|
|
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter)
|
rs1449400618
|
|
NM_138459.5(NUS1):c.165G>A (p.Thr55=)
|
|
|
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)
|
|
|
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)
|
|
|
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser)
|
rs764639190
|
|
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)
|
|
|
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
|
|
|
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
|
|
|
NM_138459.5(NUS1):c.180G>A (p.Pro60=)
|
rs1772967652
|
|
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
|
|
|
NM_138459.5(NUS1):c.195C>T (p.Asn65=)
|
|
|
NM_138459.5(NUS1):c.197G>A (p.Arg66His)
|
|
|
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys)
|
rs1562172820
|
|
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)
|
|
|
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)
|
|
|
NM_138459.5(NUS1):c.204C>T (p.His68=)
|
|
|
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
|
|
|
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr)
|
rs1460197813
|
|
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
|
|
|
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
|
|
|
NM_138459.5(NUS1):c.216G>A (p.Pro72=)
|
|
|
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
|
|
|
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
|
|
|
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
|
|
|
NM_138459.5(NUS1):c.225G>C (p.Gly75=)
|
|
|
NM_138459.5(NUS1):c.225del (p.Ser76fs)
|
|
|
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
|
|
|
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
|
|
|
NM_138459.5(NUS1):c.231C>T (p.Cys77=)
|
|
|
NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)
|
|
|
NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
|
|
|
NM_138459.5(NUS1):c.240C>A (p.Ala80=)
|
|
|
NM_138459.5(NUS1):c.240C>G (p.Ala80=)
|
|
|
NM_138459.5(NUS1):c.243A>G (p.Ala81=)
|
|
|
NM_138459.5(NUS1):c.249C>T (p.His83=)
|
|
|
NM_138459.5(NUS1):c.24G>T (p.Val8=)
|
rs745434007
|
|
NM_138459.5(NUS1):c.250dup (p.Arg84fs)
|
|
|
NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
|
|
|
NM_138459.5(NUS1):c.270C>T (p.Asp90=)
|
|
|
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
|
|
|
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
|
|
|
NM_138459.5(NUS1):c.276T>C (p.Arg92=)
|
|
|
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
|
|
|
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
|
|
|
NM_138459.5(NUS1):c.280T>C (p.Leu94=)
|
|
|
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
|
|
|
NM_138459.5(NUS1):c.291G>A (p.Leu97=)
|
|
|
NM_138459.5(NUS1):c.299A>C (p.His100Pro)
|
|
|
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
|
|
|
NM_138459.5(NUS1):c.301A>G (p.Met101Val)
|
|
|
NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
|
|
|
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
|
|
|
NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
|
|
|
NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)
|
|
|
NM_138459.5(NUS1):c.30G>A (p.Arg10=)
|
|
|
NM_138459.5(NUS1):c.30G>T (p.Arg10=)
|
rs937504375
|
|
NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
|
|
|
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
|
|
|
NM_138459.5(NUS1):c.336C>T (p.Pro112=)
|
|
|
NM_138459.5(NUS1):c.346G>C (p.Asp116His)
|
|
|
NM_138459.5(NUS1):c.351C>T (p.Ile117=)
|
|
|
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
|
|
|
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu)
|
rs2114674826
|
|
NM_138459.5(NUS1):c.354G>A (p.Ala118=)
|
|
|
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
|
|
|
NM_138459.5(NUS1):c.360C>A (p.Leu120=)
|
rs1772974013
|
|
NM_138459.5(NUS1):c.368_372del (p.Trp123fs)
|
|
|
NM_138459.5(NUS1):c.36G>A (p.Leu12=)
|
rs2114674325
|
|
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
|
|
|
NM_138459.5(NUS1):c.378del (p.Val127fs)
|
|
|
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
|
|
|
NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
|
|
|
NM_138459.5(NUS1):c.390C>G (p.Ser130=)
|
|
|
NM_138459.5(NUS1):c.390C>T (p.Ser130=)
|
|
|
NM_138459.5(NUS1):c.393C>T (p.Tyr131=)
|
rs1485120199
|
|
NM_138459.5(NUS1):c.39C>T (p.His13=)
|
|
|
NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
|
|
|
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg)
|
rs2114674884
|
|
NM_138459.5(NUS1):c.415+2T>G
|
|
|
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
|
|
|
NM_138459.5(NUS1):c.416-11C>T
|
|
|
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=)
|
|
|
NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
|
|
|
NM_138459.5(NUS1):c.420T>G (p.Ile140Met)
|
rs1263100166
|
|
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)
|
|
|
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)
|
|
|
NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
|
|
|
NM_138459.5(NUS1):c.459A>G (p.Leu153=)
|
rs2114686717
|
|
NM_138459.5(NUS1):c.45G>C (p.Leu15=)
|
|
|
NM_138459.5(NUS1):c.45G>T (p.Leu15=)
|
|
|
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
|
|
|
NM_138459.5(NUS1):c.480G>A (p.Leu160=)
|
rs2114686734
|
|
NM_138459.5(NUS1):c.482del (p.Gly161fs)
|
|
|
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn)
|
rs1392457084
|
|
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
|
|
|
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
|
|
|
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
|
|
|
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
|
|
|
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
|
|
|
NM_138459.5(NUS1):c.519T>C (p.Asn173=)
|
|
|
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)
|
|
|
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.524A>G (p.Asn175Ser)
|
rs1438675724
|
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NM_138459.5(NUS1):c.52C>G (p.Leu18Val)
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rs1772962465
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NM_138459.5(NUS1):c.540A>G (p.Gln180=)
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NM_138459.5(NUS1):c.541+10A>C
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rs1051471000
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NM_138459.5(NUS1):c.541+5G>T
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NM_138459.5(NUS1):c.541+8T>C
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rs1250234517
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NM_138459.5(NUS1):c.542-14_542-11del
|
rs777604444
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NM_138459.5(NUS1):c.542-1G>T
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NM_138459.5(NUS1):c.542-20T>C
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NM_138459.5(NUS1):c.542-9T>A
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NM_138459.5(NUS1):c.542-9T>C
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NM_138459.5(NUS1):c.548A>G (p.Asn183Ser)
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rs2114687377
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NM_138459.5(NUS1):c.554A>T (p.His185Leu)
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NM_138459.5(NUS1):c.561A>T (p.Ala187=)
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rs767054326
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NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)
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NM_138459.5(NUS1):c.567G>A (p.Lys189=)
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NM_138459.5(NUS1):c.56A>T (p.His19Leu)
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NM_138459.5(NUS1):c.573G>A (p.Leu191=)
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rs1052232
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NM_138459.5(NUS1):c.573G>T (p.Leu191=)
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NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
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NM_138459.5(NUS1):c.57C>G (p.His19Gln)
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NM_138459.5(NUS1):c.57C>T (p.His19=)
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NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
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NM_138459.5(NUS1):c.585T>C (p.Asp195=)
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NM_138459.5(NUS1):c.596A>C (p.Asp199Ala)
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rs765038821
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NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
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NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
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NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)
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NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)
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NM_138459.5(NUS1):c.601G>T (p.Val201Leu)
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NM_138459.5(NUS1):c.612T>C (p.Ala204=)
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rs1382268428
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NM_138459.5(NUS1):c.613C>G (p.Gln205Glu)
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rs2114687441
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NM_138459.5(NUS1):c.621T>C (p.Phe207=)
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NM_138459.5(NUS1):c.627G>A (p.Gln209=)
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NM_138459.5(NUS1):c.627G>T (p.Gln209His)
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NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
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NM_138459.5(NUS1):c.63G>C (p.Thr21=)
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rs550854234
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NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
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NM_138459.5(NUS1):c.648G>A (p.Lys216=)
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NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)
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rs375663235
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NM_138459.5(NUS1):c.669A>T (p.Val223=)
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NM_138459.5(NUS1):c.66C>A (p.Leu22=)
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rs1772962927
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NM_138459.5(NUS1):c.671A>G (p.Asp224Gly)
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rs2114687510
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NM_138459.5(NUS1):c.676T>C (p.Leu226=)
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rs1773283339
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NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)
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NM_138459.5(NUS1):c.681C>G (p.Ala227=)
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NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
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NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
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NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
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NM_138459.5(NUS1):c.691+12T>A
|
rs761687791
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NM_138459.5(NUS1):c.691+12T>G
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rs761687791
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NM_138459.5(NUS1):c.691+12TA[7]
|
rs770616856
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NM_138459.5(NUS1):c.691+12dup
|
rs1241006666
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NM_138459.5(NUS1):c.691+19A>G
|
rs1342549880
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NM_138459.5(NUS1):c.691+7T>G
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rs1373920649
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NM_138459.5(NUS1):c.691+8T>G
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NM_138459.5(NUS1):c.692-18TATT[2]
|
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NM_138459.5(NUS1):c.692-1G>A
|
rs1582477100
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NM_138459.5(NUS1):c.692-2A>G
|
rs2114693876
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NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)
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NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)
|
rs779757878
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NM_138459.5(NUS1):c.6G>C (p.Thr2=)
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NM_138459.5(NUS1):c.719T>G (p.Leu240Ter)
|
rs2114693896
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NM_138459.5(NUS1):c.745A>G (p.Ser249Gly)
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rs2114693915
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NM_138459.5(NUS1):c.74G>A (p.Trp25Ter)
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rs1772963498
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NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter)
|
rs2114674385
|
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NM_138459.5(NUS1):c.750A>G (p.Thr250=)
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NM_138459.5(NUS1):c.756C>T (p.Gly252=)
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NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
|
|
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NM_138459.5(NUS1):c.762T>G (p.Leu254=)
|
rs2114693923
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NM_138459.5(NUS1):c.765C>T (p.Pro255=)
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NM_138459.5(NUS1):c.765_769dup (p.His257fs)
|
rs2114693926
|
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NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)
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NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)
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NM_138459.5(NUS1):c.791+16C>G
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NM_138459.5(NUS1):c.791+16C>T
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NM_138459.5(NUS1):c.791+6T>C
|
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NM_138459.5(NUS1):c.791+7A>G
|
rs749556280
|
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NM_138459.5(NUS1):c.791+7A>T
|
|
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NM_138459.5(NUS1):c.791+9_791+12del
|
rs1213017281
|
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NM_138459.5(NUS1):c.792-13G>T
|
rs1185248187
|
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NM_138459.5(NUS1):c.792-18C>T
|
|
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NM_138459.5(NUS1):c.792-19C>T
|
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NM_138459.5(NUS1):c.792-20C>T
|
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NM_138459.5(NUS1):c.792-3C>G
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NM_138459.5(NUS1):c.796T>C (p.Leu266=)
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NM_138459.5(NUS1):c.7G>A (p.Gly3Arg)
|
rs1772960680
|
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NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr)
|
rs1554202852
|
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NM_138459.5(NUS1):c.807C>T (p.His269=)
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|
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NM_138459.5(NUS1):c.810A>G (p.Leu270=)
|
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NM_138459.5(NUS1):c.825G>A (p.Glu275=)
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NM_138459.5(NUS1):c.828C>T (p.Asp276=)
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|
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NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)
|
|
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NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)
|
|
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NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
|
|
|
NM_138459.5(NUS1):c.849A>G (p.Gln283=)
|
rs550676
|
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NM_138459.5(NUS1):c.867G>A (p.Gln289=)
|
|
|
NM_138459.5(NUS1):c.868C>T (p.Arg290Cys)
|
rs2114696019
|
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NM_138459.5(NUS1):c.869G>A (p.Arg290His)
|
rs886037858
|
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NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
|
|
|
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp)
|
rs2114696027
|
|
NM_138459.5(NUS1):c.882G>A (p.Ter294=)
|
|
|
NM_138459.5(NUS1):c.90C>T (p.Phe30=)
|
|
|
NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)
|
|
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NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)
|
|
|
NM_138459.5(NUS1):c.94_101del (p.Thr32fs)
|
|
|
NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)
|
|
|
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
|
|
|
NM_138459.5(NUS1):c.99dup (p.Asn34fs)
|
rs1582461023
|
|