NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe)
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rs200566427
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0.00019
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GRCh37/hg19 14q11.2(chr14:21887312-21918282)
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NM_001170629.2(CHD8):c.1093C>T (p.Gln365Ter)
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rs746163664
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NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)
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NM_001170629.2(CHD8):c.1138C>T (p.Gln380Ter)
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NM_001170629.2(CHD8):c.1601+5G>A
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rs2139531134
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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.1720del (p.Arg574fs)
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rs2139499999
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NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)
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rs1888700304
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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.1752dup (p.Tyr585fs)
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NM_001170629.2(CHD8):c.1899+2T>G
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NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala)
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rs2139499311
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NM_001170629.2(CHD8):c.1951C>T (p.Arg651Trp)
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rs1329659775
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NM_001170629.2(CHD8):c.2062del (p.Gln687_Leu688insTer)
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NM_001170629.2(CHD8):c.2227-1G>C
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NM_001170629.2(CHD8):c.2317C>T (p.Arg773Ter)
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rs776631057
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NM_001170629.2(CHD8):c.2364+1G>C
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rs2139484699
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NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp)
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rs1057518651
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NM_001170629.2(CHD8):c.2435G>A (p.Arg812Gln)
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NM_001170629.2(CHD8):c.2486+1G>A
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rs1888355872
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NM_001170629.2(CHD8):c.2486+1G>T
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NM_001170629.2(CHD8):c.2487-1G>C
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rs2139481823
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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.2730+1G>C
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NM_001170629.2(CHD8):c.2845G>T (p.Glu949Ter)
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rs1555315488
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NM_001170629.2(CHD8):c.2866_2868delinsAGTA (p.Arg956fs)
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rs1594349020
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NM_001170629.2(CHD8):c.2867G>A (p.Arg956His)
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rs2139478439
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NM_001170629.2(CHD8):c.3274C>T (p.Arg1092Cys)
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rs1439223724
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NM_001170629.2(CHD8):c.3291C>A (p.His1097Gln)
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rs1555315221
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NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)
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NM_001170629.2(CHD8):c.3308-1G>A
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rs1888129073
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NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)
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rs1064795655
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NM_001170629.2(CHD8):c.3338del (p.Arg1113fs)
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rs1594344768
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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.3524_3525insC (p.Leu1175fs)
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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.3725G>A (p.Arg1242Gln)
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rs2139467378
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NM_001170629.2(CHD8):c.3725G>T (p.Arg1242Leu)
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NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)
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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.3964G>C (p.Gly1322Arg)
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rs1057523712
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NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)
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NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)
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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.4373G>A (p.Trp1458Ter)
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NM_001170629.2(CHD8):c.4574dup (p.Ser1526fs)
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rs1887974151
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NM_001170629.2(CHD8):c.4611del (p.Lys1537_Val1538insTer)
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rs1555314317
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NM_001170629.2(CHD8):c.4727+1del
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rs1594340060
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NM_001170629.2(CHD8):c.4738C>T (p.Arg1580Trp)
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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.4817+2T>A
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rs1555314174
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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.5017C>T (p.Arg1673Ter)
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NM_001170629.2(CHD8):c.5127+1G>A
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rs794727436
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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.5534_5543del (p.Lys1845fs)
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rs1594331875
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NM_001170629.2(CHD8):c.5599+2T>G
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NM_001170629.2(CHD8):c.5617del (p.Leu1873fs)
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NM_001170629.2(CHD8):c.5736del (p.Leu1912fs)
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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.6130C>T (p.Arg2044Ter)
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NM_001170629.2(CHD8):c.6295G>A (p.Glu2099Lys)
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rs1555313219
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NM_001170629.2(CHD8):c.6344_6345del (p.Leu2114_Tyr2115insTer)
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rs1594329885
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NM_001170629.2(CHD8):c.6467A>G (p.Lys2156Arg)
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NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter)
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rs752374375
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NM_001170629.2(CHD8):c.7096C>T (p.Gln2366Ter)
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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.844-1G>C
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Single allele
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