HPRT CHERMSIDE
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rs2077673385
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HPRT CHICAGO
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rs2077615673
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HPRT CONNERSVILLE
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HPRT COORPAROO
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rs2077615719
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HPRT MICHIGAN
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HPRT, EX2-3DUP, IVS1DEL
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HPRT, EX4-9DEL
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HPRT, EX9DEL
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HPRT, INV/DEL, EX6-9
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NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del
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NC_000023.11:g.(?_134460165)_(134500668_?)de.
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NG_012329.2:g.(5195_18214)_(18322_20036)del
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NM_000194.2(HPRT1):c.-707_27+2236del
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NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro)
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rs137852480
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NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)
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rs137852494
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NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)
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rs137852487
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NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)
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rs137852488
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NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu)
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rs137852481
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NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)
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rs137852483
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NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp)
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rs137852503
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NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter)
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rs137852505
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NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn)
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rs267606863
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NM_000194.2(HPRT1):c.595T>G (p.Phe199Val)
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rs137852486
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NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs)
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rs387906428
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NM_000194.3(HPRT1):c.126del (p.Met43fs)
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NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys)
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rs137852491
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NM_000194.3(HPRT1):c.160_199del (p.Met54fs)
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NM_000194.3(HPRT1):c.1A>G (p.Met1Val)
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rs2124280504
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NM_000194.3(HPRT1):c.212dup (p.Tyr72fs)
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rs786200980
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NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys)
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rs1602741150
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NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro)
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rs2124291470
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NM_000194.3(HPRT1):c.28-2A>T
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rs1569354918
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NM_000194.3(HPRT1):c.289_290del (p.Val97fs)
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NM_000194.3(HPRT1):c.317_318del
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NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter)
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rs137852489
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NM_000194.3(HPRT1):c.392del (p.Val130_Leu131insTer)
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NM_000194.3(HPRT1):c.428T>A (p.Met143Lys)
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rs137852496
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NM_000194.3(HPRT1):c.47G>T (p.Gly16Val)
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rs1135401801
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NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter)
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rs137852497
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NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu)
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rs137852493
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NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr)
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rs137852492
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NM_000194.3(HPRT1):c.532+5G>A
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rs1569360089
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NM_000194.3(HPRT1):c.539G>A (p.Gly180Glu)
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rs2124305307
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NM_000194.3(HPRT1):c.568G>T (p.Gly190Ter)
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NM_000194.3(HPRT1):c.609+5G>A
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rs1569360139
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NM_000194.3(HPRT1):c.610-4_610-2delinsTTT
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rs672601245
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NM_000194.3(HPRT1):c.610C>G (p.His204Asp)
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rs137852490
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NM_000194.3:c.-147_384del
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