NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
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rs587783753
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0.00001
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NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
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rs587783771
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0.00001
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NC_000023.10:g.(?_149613783)_(150573536_?)del
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NC_000023.10:g.(?_149761067)_(149761149_?)del
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NC_000023.10:g.(?_149761067)_(149840078_?)del
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NC_000023.10:g.(?_149826274)_(149840088_?)del
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NC_000023.10:g.(?_149831886)_(149840088_?)del
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NC_000023.10:g.(?_149831896)_(149832092_?)del
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|
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NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)
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rs2148497926
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NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
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rs398123264
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NM_000252.3(MTM1):c.1116del (p.Val373fs)
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|
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NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
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rs587783755
|
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NM_000252.3(MTM1):c.116del (p.Pro39fs)
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rs2038979352
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NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)
|
rs132630303
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NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
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NM_000252.3(MTM1):c.1260+15C>G
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NM_000252.3(MTM1):c.1261-10A>G
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rs397518445
|
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NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
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NM_000252.3(MTM1):c.1349_1353+4del
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rs797045715
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NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
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NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
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rs782234944
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NM_000252.3(MTM1):c.141_144del
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rs587783791
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NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
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NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
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NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)
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rs2148511944
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NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)
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rs587783795
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NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)
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rs2148511970
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NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
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rs1557414802
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NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
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|
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NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)
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rs868972342
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NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
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rs132630304
|
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NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
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|
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NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
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|
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NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)
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rs2148456062
|
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NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)
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rs147644722
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NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
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NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
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NM_000252.3(MTM1):c.473del (p.Lys158fs)
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|
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NM_000252.3(MTM1):c.516del (p.Glu172fs)
|
rs2039803495
|
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NM_000252.3(MTM1):c.528+1G>A
|
|
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NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)
|
rs2148488410
|
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NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)
|
rs2148488506
|
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NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
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NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000252.3(MTM1):c.624del (p.Ser209fs)
|
rs2039846270
|
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NM_000252.3(MTM1):c.64-2A>G
|
rs1603123976
|
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NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
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NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
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NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)
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rs2039919698
|
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NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
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rs587783854
|
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NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
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|
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NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)
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rs2148493304
|
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NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
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NM_000252.3(MTM1):c.867+2T>A
|
|
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NM_000252.3(MTM1):c.949dup (p.Met317fs)
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rs797045722
|
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NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
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NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|