NC_000023.10:g.(?_149761093)_(149767213_?)del
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NC_000023.10:g.(?_149783042)_(149787632_?)del
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NC_000023.10:g.(?_149818176)_(149818384_?)del
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NC_000023.10:g.(?_149826274)_(149826520_?)del
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NC_000023.10:g.(?_149826294)_(149826500_?)del
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NC_000023.11:g.150649717_150649723del
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NM_000252.3(MTM1):c.100del (p.Ala34fs)
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NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
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NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
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NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)
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rs587783750
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NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter)
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rs781939560
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NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
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NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
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NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter)
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rs587783755
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NM_000252.3(MTM1):c.1133G>T (p.Gly378Val)
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rs2040150416
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NM_000252.3(MTM1):c.114del (p.Pro39fs)
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NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
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NM_000252.3(MTM1):c.1180G>C (p.Asp394His)
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rs587783760
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NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
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NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter)
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rs2040152185
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NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)
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rs1569565525
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NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)
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rs2040152678
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NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys)
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rs587783764
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NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)
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rs587783765
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NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
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rs587783766
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NM_000252.3(MTM1):c.1260+5G>A
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rs587783769
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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.1261-2A>C
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rs2148510791
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NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu)
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rs587783774
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NM_000252.3(MTM1):c.1319del (p.Gln440fs)
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NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn)
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rs587783776
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NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala)
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rs587783777
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NM_000252.3(MTM1):c.1354-2A>T
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rs781835307
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NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)
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NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser)
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rs587783787
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NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp)
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rs587783787
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NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
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NM_000252.3(MTM1):c.1468-2A>G
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NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
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NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
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NM_000252.3(MTM1):c.326T>C (p.Leu109Pro)
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rs2148456078
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NM_000252.3(MTM1):c.342+4A>G
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rs587783820
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NM_000252.3(MTM1):c.343-1G>A
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rs2148461695
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NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
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NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)
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rs2039434309
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NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
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NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)
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NM_000252.3(MTM1):c.444+2T>A
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NM_000252.3(MTM1):c.487G>T (p.Gly163Ter)
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rs2039802744
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NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)
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rs2148488364
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NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
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NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)
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rs587783838
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NM_000252.3(MTM1):c.592T>C (p.Tyr198His)
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rs2039845128
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NM_000252.3(MTM1):c.63+3A>T
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rs587783844
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NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)
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rs587783848
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NM_000252.3(MTM1):c.679-1G>A
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rs672601324
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NM_000252.3(MTM1):c.679-2A>C
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NM_000252.3(MTM1):c.679G>A (p.Val227Met)
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rs587783850
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NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
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rs398123274
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NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)
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rs2039919583
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NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
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NM_000252.3(MTM1):c.743G>T (p.Gly248Val)
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rs587783853
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NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
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NM_000252.3(MTM1):c.805A>T (p.Lys269Ter)
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rs2039921355
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NM_000252.3(MTM1):c.838A>T (p.Arg280Ter)
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rs2039922261
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NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)
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rs587783862
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NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
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NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
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NM_000252.3(MTM1):c.97G>T (p.Glu33Ter)
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rs2038978870
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