NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
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rs28939378
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0.00036
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NM_019109.5(ALG1):c.1187+3A>G
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rs369160589
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0.00013
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NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)
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rs200605408
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0.00004
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NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)
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rs780107088
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0.00004
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NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
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rs151173406
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0.00003
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NM_019109.5(ALG1):c.1187+1G>A
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rs374928784
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0.00002
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NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs)
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rs746019074
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0.00002
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NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
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rs553396382
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0.00002
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NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)
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rs398124348
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0.00001
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NM_019109.5(ALG1):c.1129A>G (p.Met377Val)
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rs387906925
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0.00001
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NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)
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rs750451819
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0.00001
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NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)
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rs121908340
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0.00001
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NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
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rs1474783444
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0.00001
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NM_019109.5(ALG1):c.621G>A (p.Trp207Ter)
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rs1956935335
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0.00001
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NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)
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rs1372794201
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0.00001
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GRCh37/hg19 16p13.3(chr16:5121789-5133778)
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GRCh37/hg19 16p13.3(chr16:5129043-5129828)
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Multiple alleles
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NC_000016.9:g.(?_5121851)_(5125557_?)del
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NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)
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rs267606651
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NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg)
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rs398124347
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NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
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NM_019109.5(ALG1):c.1063del (p.Leu355fs)
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rs758259853
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NM_019109.5(ALG1):c.1073-2A>G
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rs1957033825
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NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)
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rs1299775990
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NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
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NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
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NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln)
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rs1596261208
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NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)
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rs1596261268
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NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu)
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rs1386102245
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NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter)
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rs387906927
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NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
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NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
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NM_019109.5(ALG1):c.1263+2T>C
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NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
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NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)
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rs752922461
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NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
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NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)
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rs1596252105
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NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
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NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter)
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rs199553558
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NM_019109.5(ALG1):c.318dup (p.Val107fs)
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NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)
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rs776990436
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NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs)
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rs1956891979
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NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
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rs387906926
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NM_019109.5(ALG1):c.450C>A (p.Ser150Arg)
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rs121908340
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NM_019109.5(ALG1):c.486dup (p.Ile163fs)
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NM_019109.5(ALG1):c.512dup (p.Asn171fs)
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NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
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NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
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NM_019109.5(ALG1):c.710del (p.Leu237fs)
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NM_019109.5(ALG1):c.711_726del (p.Gly238fs)
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rs756236917
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NM_019109.5(ALG1):c.739del (p.Arg247fs)
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NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
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NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
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NM_019109.5(ALG1):c.786del (p.Glu262fs)
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NM_019109.5(ALG1):c.791_804del (p.Asp264fs)
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rs2142715856
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NM_019109.5(ALG1):c.875del (p.Phe292fs)
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NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
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NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
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NM_019109.5(ALG1):c.91del (p.Ala31fs)
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NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
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NM_019109.5(ALG1):c.969del (p.Pro324fs)
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