NM_007186.6(CEP250):c.5959C>T (p.Gln1987Ter)
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rs200263031
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0.00019
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NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)
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rs774702094
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0.00011
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NM_007186.6(CEP250):c.1468C>T (p.Arg490Ter)
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rs776554898
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0.00001
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NM_007186.6(CEP250):c.304C>T (p.Arg102Ter)
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rs1266064055
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0.00001
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NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter)
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rs1243282597
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0.00001
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NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)
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rs749314857
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0.00001
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NM_007186.6(CEP250):c.361C>T (p.Arg121Ter)
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rs1341298773
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0.00001
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NM_007186.6(CEP250):c.3799C>T (p.Gln1267Ter)
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rs200644575
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0.00001
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NM_007186.6(CEP250):c.562C>T (p.Arg188Ter)
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rs1369076411
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0.00001
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NM_007186.6(CEP250):c.5725C>T (p.Gln1909Ter)
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rs766398435
|
0.00001
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NC_000020.10:g.(?_34050193)_(34099455_?)del
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|
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NM_007186.6(CEP250):c.1112T>A (p.Leu371Ter)
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NM_007186.6(CEP250):c.1235del (p.Cys412fs)
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rs2146792205
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NM_007186.6(CEP250):c.1652C>A (p.Ser551Ter)
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rs2146822389
|
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NM_007186.6(CEP250):c.199C>T (p.Arg67Ter)
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NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter)
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rs1051944154
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NM_007186.6(CEP250):c.2200del (p.Ala733_Leu734insTer)
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NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)
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NM_007186.6(CEP250):c.2383C>T (p.Gln795Ter)
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rs2063287444
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NM_007186.6(CEP250):c.2388dup (p.Val797fs)
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rs1398367764
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NM_007186.6(CEP250):c.2512del (p.Gln838fs)
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NM_007186.6(CEP250):c.2564dup (p.Asn856fs)
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NM_007186.6(CEP250):c.263G>A (p.Trp88Ter)
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rs2062862935
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NM_007186.6(CEP250):c.2647del (p.Glu883fs)
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NM_007186.6(CEP250):c.2654_2675del (p.Met885fs)
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NM_007186.6(CEP250):c.2848C>T (p.Arg950Ter)
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rs1388902455
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NM_007186.6(CEP250):c.2986del (p.Glu996fs)
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rs2147070761
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NM_007186.6(CEP250):c.3133C>T (p.Arg1045Ter)
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NM_007186.6(CEP250):c.3178_3179del (p.Ser1060fs)
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NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter)
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rs1568820302
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NM_007186.6(CEP250):c.337del (p.Ser112_Leu113insTer)
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rs2146707223
|
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NM_007186.6(CEP250):c.3656-1G>A
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|
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NM_007186.6(CEP250):c.3773_3777del (p.Thr1258fs)
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NM_007186.6(CEP250):c.3912G>A (p.Trp1304Ter)
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|
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NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter)
|
rs774612231
|
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NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs)
|
rs2064043746
|
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NM_007186.6(CEP250):c.434G>A (p.Trp145Ter)
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|
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NM_007186.6(CEP250):c.4388_4389del (p.Leu1463fs)
|
rs2064048389
|
|
NM_007186.6(CEP250):c.439del (p.Arg147fs)
|
|
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NM_007186.6(CEP250):c.4447del (p.Glu1483fs)
|
|
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NM_007186.6(CEP250):c.4489del (p.Gln1497fs)
|
|
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NM_007186.6(CEP250):c.4495C>T (p.Arg1499Ter)
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|
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NM_007186.6(CEP250):c.4514_4515del (p.Val1505fs)
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NM_007186.6(CEP250):c.4876C>T (p.Gln1626Ter)
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|
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NM_007186.6(CEP250):c.5050del (p.Asp1684fs)
|
rs2064077764
|
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NM_007186.6(CEP250):c.5105dup (p.Arg1703fs)
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|
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NM_007186.6(CEP250):c.5370del (p.Arg1791fs)
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|
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NM_007186.6(CEP250):c.5383dup (p.Glu1795fs)
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rs2064092893
|
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NM_007186.6(CEP250):c.5500del (p.Glu1834fs)
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rs2147164893
|
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NM_007186.6(CEP250):c.5596del (p.Glu1866fs)
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|
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NM_007186.6(CEP250):c.5969T>A (p.Leu1990Ter)
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NM_007186.6(CEP250):c.6094C>T (p.Arg2032Ter)
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|
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NM_007186.6(CEP250):c.6160C>T (p.Gln2054Ter)
|
rs2147174157
|
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NM_007186.6(CEP250):c.6307_6308del (p.Leu2103fs)
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|
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NM_007186.6(CEP250):c.6406G>T (p.Glu2136Ter)
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|
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NM_007186.6(CEP250):c.6487_6488del (p.Glu2163fs)
|
rs2147179056
|
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NM_007186.6(CEP250):c.6592C>T (p.Gln2198Ter)
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|
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NM_007186.6(CEP250):c.6625C>T (p.Gln2209Ter)
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|
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NM_007186.6(CEP250):c.6826C>T (p.Gln2276Ter)
|
rs2147208997
|
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NM_007186.6(CEP250):c.6829C>T (p.Gln2277Ter)
|
|
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NM_007186.6(CEP250):c.829G>T (p.Glu277Ter)
|
|
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NM_007186.6(CEP250):c.94dup (p.Ala32fs)
|
rs2146671573
|
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