NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)
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rs1454466097
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0.00001
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GRCh37/hg19 14q11.2(chr14:21869505-21919003)x1
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NM_001170629.1(CHD8):c.5053delG
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NM_001170629.2(CHD8):c.117_133del (p.Pro40fs)
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rs1566446604
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NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)
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NM_001170629.2(CHD8):c.1351A>T (p.Arg451Ter)
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rs1435998081
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NM_001170629.2(CHD8):c.142C>T (p.Gln48Ter)
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rs1555318734
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NM_001170629.2(CHD8):c.1444C>T (p.Arg482Ter)
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rs2139531559
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NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)
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NM_001170629.2(CHD8):c.1540G>T (p.Glu514Ter)
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rs1555318013
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NM_001170629.2(CHD8):c.1566del (p.Gly523fs)
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rs1555318001
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NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
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NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)
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rs1057524677
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NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter)
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rs1888700404
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NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter)
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rs863224857
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NM_001170629.2(CHD8):c.2025-1G>C
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NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter)
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rs1555316331
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NM_001170629.2(CHD8):c.2093T>G (p.Leu698Ter)
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rs1555316323
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NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
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NM_001170629.2(CHD8):c.2245del (p.Leu748_Val749insTer)
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rs1594352987
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NM_001170629.2(CHD8):c.2345del (p.His782fs)
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rs886039692
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NM_001170629.2(CHD8):c.2487-2A>G
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rs1057524339
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NM_001170629.2(CHD8):c.2532del (p.Gln845fs)
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NM_001170629.2(CHD8):c.2565del (p.Asn855fs)
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rs1566427770
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NM_001170629.2(CHD8):c.2582_2583delinsT (p.Pro861fs)
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rs1594351052
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NM_001170629.2(CHD8):c.2626C>T (p.Arg876Ter)
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rs1555315679
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NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter)
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rs774906516
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NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter)
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rs1888277745
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NM_001170629.2(CHD8):c.2811del (p.Arg938fs)
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rs1888277300
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NM_001170629.2(CHD8):c.2831_2835del (p.Cys944fs)
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rs797044853
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NM_001170629.2(CHD8):c.2841_2845delinsATC (p.Asp948fs)
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rs2139478486
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NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)
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rs1131691548
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NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
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NM_001170629.2(CHD8):c.2992C>T (p.Gln998Ter)
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rs886041968
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NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter)
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rs1888229658
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NM_001170629.2(CHD8):c.3119del (p.Asn1040fs)
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NM_001170629.2(CHD8):c.3308-1G>C
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rs1888129073
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NM_001170629.2(CHD8):c.3308-2A>G
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rs2139470242
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NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs)
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rs1157888951
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NM_001170629.2(CHD8):c.3331_3332del (p.Glu1111fs)
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rs2139470170
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NM_001170629.2(CHD8):c.336dup (p.Ser113fs)
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rs1555318675
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NM_001170629.2(CHD8):c.347del (p.Thr116fs)
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rs1135401763
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NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn)
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rs2139469836
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NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
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NM_001170629.2(CHD8):c.3519-2A>G
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rs1594344233
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NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter)
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rs1888108124
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NM_001170629.2(CHD8):c.3524T>G (p.Leu1175Ter)
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rs1888108039
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NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)
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rs1555314911
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NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)
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NM_001170629.2(CHD8):c.3623del (p.Cys1208fs)
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rs1594344154
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NM_001170629.2(CHD8):c.3638del (p.Gly1213fs)
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rs1888105256
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NM_001170629.2(CHD8):c.3686C>A (p.Ser1229Ter)
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rs1555314895
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NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter)
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rs397514551
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NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter)
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rs1555314788
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NM_001170629.2(CHD8):c.3733C>T (p.Arg1245Ter)
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rs886041884
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NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs)
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rs2139467241
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NM_001170629.2(CHD8):c.3882+1G>A
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rs1555314736
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NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)
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rs397514552
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NM_001170629.2(CHD8):c.4027_4028del (p.Thr1342_Ile1343insTer)
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NM_001170629.2(CHD8):c.4115del (p.Asn1372fs)
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rs1888033166
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NM_001170629.2(CHD8):c.4131G>A (p.Trp1377Ter)
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rs1555314582
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NM_001170629.2(CHD8):c.4174-9_4174-1del
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rs886039725
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NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter)
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rs1334692966
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NM_001170629.2(CHD8):c.4210C>T (p.Gln1404Ter)
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rs1555314489
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NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)
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NM_001170629.2(CHD8):c.4384C>T (p.Arg1462Ter)
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NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter)
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rs991738444
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NM_001170629.2(CHD8):c.4429C>T (p.Arg1477Ter)
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rs1555314390
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NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp)
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rs2139462537
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NM_001170629.2(CHD8):c.4468_4469insA (p.Cys1490Ter)
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rs1555314378
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NM_001170629.2(CHD8):c.463_466del (p.Ser155fs)
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rs1555318633
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NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)
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rs1555314211
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NM_001170629.2(CHD8):c.4785_4788del (p.Ala1596fs)
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rs1555314186
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NM_001170629.2(CHD8):c.4800del (p.Gly1602fs)
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rs1887960167
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NM_001170629.2(CHD8):c.4818-1G>A
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rs2139460816
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NM_001170629.2(CHD8):c.4818-1G>C
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NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter)
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rs1555314122
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NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter)
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rs1555314116
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NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter)
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rs1555313934
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NM_001170629.2(CHD8):c.5061del (p.Phe1687fs)
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rs2139452398
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NM_001170629.2(CHD8):c.5179G>T (p.Glu1727Ter)
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NM_001170629.2(CHD8):c.5240_5243del (p.Ala1747fs)
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NM_001170629.2(CHD8):c.5266dup (p.Tyr1756fs)
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rs886043086
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NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter)
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rs1085307794
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NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)
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NM_001170629.2(CHD8):c.5389C>T (p.Arg1797Ter)
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rs1887710442
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NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter)
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rs55884219
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NM_001170629.2(CHD8):c.5547del (p.Phe1850fs)
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NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)
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NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs)
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rs774152851
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NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs)
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rs2139448045
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NM_001170629.2(CHD8):c.5744del (p.Pro1915fs)
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rs2139447795
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NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)
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NM_001170629.2(CHD8):c.5947_5951dup (p.Leu1985fs)
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rs2139447449
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NM_001170629.2(CHD8):c.6002del (p.Pro2001fs)
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rs2139447345
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NM_001170629.2(CHD8):c.6103C>T (p.Arg2035Ter)
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rs1131691627
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NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter)
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rs556977377
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NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter)
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rs781575717
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NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
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NM_001170629.2(CHD8):c.6649C>T (p.Arg2217Ter)
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rs1555313048
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NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter)
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rs1555313027
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NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)
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rs751094013
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NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)
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rs1555318552
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NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)
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NM_001170629.2(CHD8):c.961del (p.Leu321fs)
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