NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
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rs587784299
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0.00001
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GRCh37/hg19 Xq22.1(chrX:99551100-99606139)x1
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NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
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rs796052839
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NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu)
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rs796052811
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NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs)
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rs796052828
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NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
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rs758946412
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NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter)
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rs1239794408
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NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp)
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rs796052812
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NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter)
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rs1555985301
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NM_001184880.2(PCDH19):c.1134del (p.Gly379fs)
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rs796052830
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NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs)
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rs1602636466
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NM_001184880.2(PCDH19):c.1308del (p.Lys437fs)
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rs796052831
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NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
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rs1602638463
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NM_001184880.2(PCDH19):c.1376del (p.Gln459fs)
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rs796052829
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NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs)
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rs1085307873
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NM_001184880.2(PCDH19):c.1448del (p.Gly483fs)
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rs1602636059
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NM_001184880.2(PCDH19):c.1521del (p.Ile508fs)
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rs1131691646
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NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter)
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rs796052817
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NM_001184880.2(PCDH19):c.1683_1696del (p.Val562fs)
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rs796052832
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NM_001184880.2(PCDH19):c.1752_1759del (p.Tyr585fs)
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rs796052833
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NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter)
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rs796052820
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NM_001184880.2(PCDH19):c.1952dup (p.Leu652fs)
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rs796052834
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NM_001184880.2(PCDH19):c.1956_1959del (p.Ser653fs)
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rs796052835
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NM_001184880.2(PCDH19):c.1958_1959dup (p.Ala654fs)
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rs796052835
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NM_001184880.2(PCDH19):c.2147+1G>A
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rs1555984947
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NM_001184880.2(PCDH19):c.2147+2T>C
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rs1555984946
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NM_001184880.2(PCDH19):c.218_219insG (p.Asp73fs)
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rs796052841
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NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)
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rs756414485
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NM_001184880.2(PCDH19):c.2849-2A>G
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rs886039728
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NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
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rs796052797
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NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
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rs1569315876
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NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter)
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rs796052801
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NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
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rs796052837
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NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
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rs796052837
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NM_001184880.2(PCDH19):c.499G>T (p.Glu167Ter)
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rs1555985623
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NM_001184880.2(PCDH19):c.49_62del (p.Thr17fs)
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rs1602638594
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NM_001184880.2(PCDH19):c.524del (p.Gly175fs)
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rs796052826
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NM_001184880.2(PCDH19):c.595G>T (p.Glu199Ter)
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rs1131691603
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NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
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rs796052802
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NM_001184880.2(PCDH19):c.646_655del (p.Pro216fs)
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rs886039707
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NM_001184880.2(PCDH19):c.647del (p.Pro216fs)
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rs1602637517
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NM_001184880.2(PCDH19):c.696T>A (p.Asn232Lys)
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rs796052807
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NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter)
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rs1057524751
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NM_001184880.2(PCDH19):c.805del (p.Thr269fs)
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rs796052827
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NM_001184880.2(PCDH19):c.825C>A (p.Tyr275Ter)
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rs1057520761
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NM_001184880.2(PCDH19):c.875_879dup (p.His294fs)
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rs1555985416
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NM_001184880.2(PCDH19):c.91G>T (p.Glu31Ter)
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rs796052794
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NM_001184880.2(PCDH19):c.955A>T (p.Lys319Ter)
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rs1569315186
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NM_001184880.2(PCDH19):c.966dup (p.Pro323fs)
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rs796052842
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NM_001184880.2(PCDH19):c.976_981delinsTTCCC (p.Ile326fs)
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rs1131691509
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