NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
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rs61750420
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0.00025
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NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)
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rs535271603
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0.00006
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NM_000466.3(PEX1):c.2926+1G>A
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rs267608179
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0.00006
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NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
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rs61750418
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0.00005
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NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
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rs61750427
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0.00003
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NM_000466.3(PEX1):c.1239+1G>T
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rs756876301
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0.00002
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NM_000466.3(PEX1):c.130-1G>T
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rs1028247729
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0.00002
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NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
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rs398123408
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0.00002
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NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
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rs749067142
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0.00002
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NM_000466.3(PEX1):c.1126del (p.Glu376fs)
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rs751829426
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0.00001
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NM_000466.3(PEX1):c.180G>A (p.Trp60Ter)
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rs1408895107
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0.00001
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NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
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rs61750422
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0.00001
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NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
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NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
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NM_000466.3(PEX1):c.1321del (p.Ile441fs)
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NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)
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rs1585248089
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NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
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NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
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NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
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NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
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NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)
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NM_000466.3(PEX1):c.1611del (p.Glu538fs)
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NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
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NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
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rs786204606
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NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
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NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
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NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
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NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
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NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
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NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
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NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
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NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
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NM_000466.3(PEX1):c.1895del (p.Leu632fs)
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NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
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NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)
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rs267608178
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NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
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rs61750415
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NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)
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rs863225084
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NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
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NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
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NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
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NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
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NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
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NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
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NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
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NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
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rs1057517485
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NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
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NM_000466.3(PEX1):c.2849dup (p.His951fs)
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NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
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rs1057517481
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NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
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NM_000466.3(PEX1):c.2916del (p.Gly973fs)
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rs61750426
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NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
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NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
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NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
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rs1484321655
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NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
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NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
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rs1562846257
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NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
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NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
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NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
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NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
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rs886043558
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NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
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NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
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NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
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NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
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NM_000466.3(PEX1):c.3573del (p.Glu1191fs)
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rs1585211048
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NM_000466.3(PEX1):c.358-1G>T
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rs1057517479
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NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
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rs769836601
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NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
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rs201415996
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NM_000466.3(PEX1):c.496del (p.Tyr166fs)
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NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
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NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
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NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
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NM_000466.3(PEX1):c.573del (p.Ala192fs)
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rs1585255490
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NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
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NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
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NM_000466.3(PEX1):c.66dup (p.Asn23fs)
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NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
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NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
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NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
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