NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
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rs774056663
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0.00003
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NM_001384140.1(PCDH15):c.2751+2T>C
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rs754543131
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0.00002
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NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
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rs779165268
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0.00002
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NM_001384140.1(PCDH15):c.1997+1G>A
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rs763797356
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0.00001
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NM_001384140.1(PCDH15):c.3806+2T>C
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rs756692340
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0.00001
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NM_001384140.1(PCDH15):c.3807-2A>G
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rs1328440878
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0.00001
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NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
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rs767966376
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0.00001
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NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
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rs1384677442
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0.00001
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NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
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rs747516133
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0.00001
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NC_000010.11:g.53995649_54022892del
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NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
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NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter)
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rs2051720336
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NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
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NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
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NM_001384140.1(PCDH15):c.1306-1G>T
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rs1299990309
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NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
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rs2133817680
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NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
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rs1193650682
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NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
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NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
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NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)
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rs2133801342
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NM_001384140.1(PCDH15):c.158-2A>T
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rs1304228309
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NM_001384140.1(PCDH15):c.1591-2A>C
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NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
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NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
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NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
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rs1264383341
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NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
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NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
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NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
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NM_001384140.1(PCDH15):c.1784+1G>T
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NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
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NM_001384140.1(PCDH15):c.1917+1G>A
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NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
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rs2136049616
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NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)
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rs765906921
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NM_001384140.1(PCDH15):c.2092-2A>G
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NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
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NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
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NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)
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rs2094144044
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NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
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rs2135322143
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NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
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NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
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NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
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rs757027638
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NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
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NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
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NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
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NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)
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rs2091805733
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NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
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NM_001384140.1(PCDH15):c.2869-1G>T
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rs1554883705
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NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)
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rs2134302083
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NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
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NM_001384140.1(PCDH15):c.3009+1G>C
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NM_001384140.1(PCDH15):c.3009+1G>T
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NM_001384140.1(PCDH15):c.3010-1G>C
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rs2134277047
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NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
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NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)
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rs1554882652
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NM_001384140.1(PCDH15):c.3122+1G>A
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rs982893820
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NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
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NM_001384140.1(PCDH15):c.3373+2T>C
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NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
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rs746865307
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NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
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NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
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rs1057517264
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NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
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NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
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NM_001384140.1(PCDH15):c.366del (p.Asn122fs)
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rs1589072933
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NM_001384140.1(PCDH15):c.3717+1G>C
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rs748706627
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NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
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NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
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NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
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NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
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NM_001384140.1(PCDH15):c.3984-2A>C
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NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
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NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
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rs137853003
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NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
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NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
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NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)
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rs2134714388
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NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
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NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
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rs1057516472
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NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
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NM_001384140.1(PCDH15):c.4367+1G>A
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rs1057516613
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NM_001384140.1(PCDH15):c.4367+2251G>A
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NM_001384140.1(PCDH15):c.4367+2T>C
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rs1554822703
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NM_001384140.1(PCDH15):c.4367+2dup
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NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
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NM_001384140.1(PCDH15):c.475-2A>G
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NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
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rs766484375
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NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)
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rs1943288780
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NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)
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rs1943286459
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NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs)
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rs2133652254
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NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln)
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rs1564949059
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NM_001384140.1(PCDH15):c.876+2T>C
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NM_001384140.1(PCDH15):c.91+1G>A
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rs1565887701
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NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
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NM_033056.4(PCDH15):c.4389del (p.Gln1464fs)
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rs35296328
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NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
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rs1233449433
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