NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)
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rs1554728698
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0.00001
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GRCh37/hg19 9q33.3(chr9:129376720-129463802)
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GRCh37/hg19 9q33.3(chr9:129414011-129460757)
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NC_000009.11:g.(?_129376729)_(129377858_?)del
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NC_000009.11:g.(?_129376729)_(129377868_?)del
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NC_000009.11:g.(?_129376729)_(129458730_?)del
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NC_000009.11:g.(?_129377642)_(129377868_?)del
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NC_000009.11:g.(?_129453095)_(129458730_?)del
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NC_000009.12:g.126615383del
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NM_001174147.2(LMX1B):c.130dup (p.Val44fs)
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NM_001174147.2(LMX1B):c.140-1G>A
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NM_001174147.2(LMX1B):c.140-37_140-21del
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NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)
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rs1588257904
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NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
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NM_001174147.2(LMX1B):c.176G>T (p.Cys59Phe)
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rs1554721879
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NM_001174147.2(LMX1B):c.178C>T (p.Gln60Ter)
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rs2118823223
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NM_001174147.2(LMX1B):c.207dup (p.Arg70fs)
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rs2118823366
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NM_001174147.2(LMX1B):c.208C>T (p.Arg70Ter)
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rs2118823374
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NM_001174147.2(LMX1B):c.209del (p.Arg70fs)
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NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter)
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NM_001174147.2(LMX1B):c.217del (p.Glu73fs)
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rs2118823413
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NM_001174147.2(LMX1B):c.221C>A (p.Ser74Ter)
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NM_001174147.2(LMX1B):c.227G>A (p.Trp76Ter)
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rs886039574
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NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)
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NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter)
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rs745711468
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NM_001174147.2(LMX1B):c.242T>G (p.Leu81Trp)
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rs1835285672
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NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)
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rs121909489
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NM_001174147.2(LMX1B):c.249C>G (p.Cys83Trp)
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NM_001174147.2(LMX1B):c.258T>A (p.Cys86Ter)
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NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)
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NM_001174147.2(LMX1B):c.259_304del (p.Gln87fs)
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NM_001174147.2(LMX1B):c.262C>T (p.Gln88Ter)
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NM_001174147.2(LMX1B):c.271_272del (p.Thr91fs)
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NM_001174147.2(LMX1B):c.285C>G (p.Tyr95Ter)
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rs2118823701
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NM_001174147.2(LMX1B):c.285_289del (p.Tyr95_Arg97delinsTer)
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rs1057520178
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NM_001174147.2(LMX1B):c.289_291del (p.Arg97del)
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rs2118823763
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NM_001174147.2(LMX1B):c.297del (p.Lys100fs)
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rs2118823819
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NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)
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NM_001174147.2(LMX1B):c.305A>G (p.Tyr102Cys)
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rs1564143881
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NM_001174147.2(LMX1B):c.306C>G (p.Tyr102Ter)
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rs864621969
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NM_001174147.2(LMX1B):c.321C>G (p.Tyr107Ter)
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rs1835287345
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NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)
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rs1835287406
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NM_001174147.2(LMX1B):c.326+1G>A
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NM_001174147.2(LMX1B):c.326+1G>C
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rs1835287461
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NM_001174147.2(LMX1B):c.327-2A>G
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rs2118986578
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NM_001174147.2(LMX1B):c.332del (p.Phe111fs)
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rs2118986608
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NM_001174147.2(LMX1B):c.340A>T (p.Lys114Ter)
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NM_001174147.2(LMX1B):c.346_347insT (p.Ser116fs)
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rs2118986658
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NM_001174147.2(LMX1B):c.351_355dup (p.Met119fs)
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rs2118986709
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NM_001174147.2(LMX1B):c.353G>T (p.Cys118Phe)
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rs121909488
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NM_001174147.2(LMX1B):c.398_399dup (p.Cys134fs)
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rs2118986877
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NM_001174147.2(LMX1B):c.407_421del (p.Tyr136_Cys140del)
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rs2118986919
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NM_001174147.2(LMX1B):c.408C>G (p.Tyr136Ter)
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NM_001174147.2(LMX1B):c.419G>T (p.Cys140Phe)
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rs2118986952
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NM_001174147.2(LMX1B):c.428G>A (p.Cys143Tyr)
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NM_001174147.2(LMX1B):c.437G>A (p.Cys146Tyr)
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NM_001174147.2(LMX1B):c.445C>T (p.Gln149Ter)
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rs2118987040
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NM_001174147.2(LMX1B):c.479_486del (p.Glu160fs)
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NM_001174147.2(LMX1B):c.484C>T (p.Gln162Ter)
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rs2118987177
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NM_001174147.2(LMX1B):c.491T>C (p.Leu164Pro)
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NM_001174147.2(LMX1B):c.507C>G (p.Tyr169Ter)
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NM_001174147.2(LMX1B):c.543del (p.Asp182fs)
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rs1114167362
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NM_001174147.2(LMX1B):c.597_598dup (p.Lys200fs)
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NM_001174147.2(LMX1B):c.600_604dup (p.Gln202fs)
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NM_001174147.2(LMX1B):c.623del (p.Gly208fs)
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rs2118991726
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NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter)
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rs121909487
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NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
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NM_001174147.2(LMX1B):c.667del (p.Arg223fs)
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rs1564169730
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NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln)
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rs121909491
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NM_001174147.2(LMX1B):c.679_680del (p.Thr227fs)
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NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)
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rs121909490
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NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)
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rs1588307140
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NM_001174147.2(LMX1B):c.709T>C (p.Ser237Pro)
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rs1588307152
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NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
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rs1191455921
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NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)
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rs1191455921
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NM_001174147.2(LMX1B):c.739A>T (p.Lys247Ter)
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rs2118992231
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NM_001174147.2(LMX1B):c.741+1G>A
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rs1427331961
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NM_001174147.2(LMX1B):c.741+1G>T
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rs1427331961
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NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter)
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rs121909492
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NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro)
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rs1056252582
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NM_001174147.2(LMX1B):c.748G>T (p.Glu250Ter)
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rs2118992752
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NM_001174147.2(LMX1B):c.750_751del (p.Glu250fs)
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rs2118992738
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NM_001174147.2(LMX1B):c.766dup (p.Thr256fs)
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NM_001174147.2(LMX1B):c.776dup (p.Ser259fs)
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NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys)
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rs886039576
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NM_001174147.2(LMX1B):c.783dup (p.Val262fs)
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rs1588307460
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NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)
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rs1588307464
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NM_001174147.2(LMX1B):c.793G>C (p.Val265Leu)
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rs1588307477
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NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe)
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rs1588307477
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NM_001174147.2(LMX1B):c.801del (p.Gln268fs)
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NM_001174147.2(LMX1B):c.806_811del (p.Asn269_Gln270del)
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rs1588307486
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NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys)
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rs121909486
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NM_001174147.2(LMX1B):c.819+1G>A
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rs1588307501
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NM_001174147.2(LMX1B):c.819+2T>G
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rs2118992878
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NM_001174147.2(LMX1B):c.820-1G>A
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NM_001174147.2(LMX1B):c.844C>T (p.Gln282Ter)
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rs2118993320
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NM_001174147.2(LMX1B):c.871C>T (p.Gln291Ter)
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NM_001174147.2(LMX1B):c.917_926del (p.Met306fs)
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rs1588309269
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NM_001174147.2(LMX1B):c.932del (p.Pro311fs)
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rs1588309293
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NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)
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