NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)
|
rs146171115
|
0.00039
|
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn)
|
rs761121795
|
0.00029
|
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.629T>C (p.Leu210Ser)
|
rs1052237
|
0.00009
|
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser)
|
rs779673665
|
0.00007
|
NM_138459.5(NUS1):c.246C>G (p.His82Gln)
|
rs1023259853
|
0.00006
|
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe)
|
rs896791770
|
0.00005
|
NM_138459.5(NUS1):c.445A>G (p.Met149Val)
|
rs1276753307
|
0.00003
|
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser)
|
rs1433668009
|
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.262C>T (p.Arg88Cys)
|
rs1426327353
|
0.00001
|
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln)
|
rs1369494529
|
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.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.601G>A (p.Val201Ile)
|
rs1238998019
|
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.845G>A (p.Arg282His)
|
rs140791750
|
0.00001
|
NC_000006.11:g.(?_118028088)_(118028178_?)del
|
|
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NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
|
|
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NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
|
|
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NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
|
|
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NM_138459.5(NUS1):c.123C>G (p.Cys41Trp)
|
rs914678907
|
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NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
|
|
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NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
|
|
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NM_138459.5(NUS1):c.127G>A (p.Ala43Thr)
|
rs1327892878
|
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NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
|
|
|
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
|
|
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NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
|
|
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NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
|
|
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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)
|
|
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NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
|
|
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NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
|
|
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NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
|
|
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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)
|
|
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NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
|
|
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NM_138459.5(NUS1):c.214C>A (p.Pro72Thr)
|
rs1460197813
|
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NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
|
|
|
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
|
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NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
|
|
|
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
|
|
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NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
|
|
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NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
|
|
|
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
|
|
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NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
|
|
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NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
|
|
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NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
|
|
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NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
|
|
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NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
|
|
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NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
|
|
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NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
|
|
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NM_138459.5(NUS1):c.299A>C (p.His100Pro)
|
|
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NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
|
|
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NM_138459.5(NUS1):c.301A>G (p.Met101Val)
|
|
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NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
|
|
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NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
|
|
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NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
|
|
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NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
|
|
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NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
|
|
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NM_138459.5(NUS1):c.346G>C (p.Asp116His)
|
|
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NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
|
|
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NM_138459.5(NUS1):c.353C>A (p.Ala118Glu)
|
rs2114674826
|
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NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
|
|
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NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
|
|
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NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
|
|
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NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
|
|
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NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
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|
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NM_138459.5(NUS1):c.413A>G (p.Gln138Arg)
|
rs2114674884
|
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NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
|
|
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NM_138459.5(NUS1):c.416G>A (p.Gly139Asp)
|
rs2114686687
|
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NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
|
|
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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)
|
|
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NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
|
|
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NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
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|
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NM_138459.5(NUS1):c.498A>T (p.Lys166Asn)
|
rs1392457084
|
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NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
|
|
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NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
|
|
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NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
|
|
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NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
|
|
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NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
|
|
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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
|
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NM_138459.5(NUS1):c.524A>G (p.Asn175Ser)
|
rs1438675724
|
|
NM_138459.5(NUS1):c.52C>G (p.Leu18Val)
|
rs1772962465
|
|
NM_138459.5(NUS1):c.540A>G (p.Gln180=)
|
|
|
NM_138459.5(NUS1):c.541+5G>T
|
|
|
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser)
|
rs2114687377
|
|
NM_138459.5(NUS1):c.554A>T (p.His185Leu)
|
|
|
NM_138459.5(NUS1):c.56A>T (p.His19Leu)
|
|
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NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
|
|
|
NM_138459.5(NUS1):c.57C>G (p.His19Gln)
|
|
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NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
|
|
|
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala)
|
rs765038821
|
|
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
|
|
|
NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
|
|
|
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)
|
|
|
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu)
|
rs2114687441
|
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NM_138459.5(NUS1):c.627G>T (p.Gln209His)
|
|
|
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
|
|
|
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
|
|
|
NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)
|
rs375663235
|
|
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly)
|
rs2114687510
|
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NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)
|
|
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NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
|
|
|
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
|
|
|
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
|
|
|
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)
|
rs779757878
|
|
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly)
|
rs2114693915
|
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NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
|
|
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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+6T>C
|
|
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NM_138459.5(NUS1):c.792-3C>G
|
|
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NM_138459.5(NUS1):c.7G>A (p.Gly3Arg)
|
rs1772960680
|
|
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr)
|
rs1554202852
|
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NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)
|
|
|
NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
|
|
|
NM_138459.5(NUS1):c.869G>A (p.Arg290His)
|
rs886037858
|
|
NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
|
|
|
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp)
|
rs2114696027
|
|
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.95C>T (p.Thr32Ile)
|
|
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NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
|
|
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