ClinVar Miner

List of variants in gene CHD8

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Gene type:
ClinVar version:
Total variants: 1201
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.3477G>A (p.Val1159=) rs8022395 0.92426
NM_001170629.2(CHD8):c.6468+54G>T rs7152833 0.85917
NM_001170629.2(CHD8):c.5052-73G>T rs10134108 0.80476
NM_001170629.2(CHD8):c.2731-296A>G rs7147024 0.80426
NM_001170629.2(CHD8):c.2908-45C>G rs7155123 0.80426
NM_001170629.2(CHD8):c.5128-205G>A rs1952554 0.79871
NM_001170629.2(CHD8):c.3308-177A>C rs8011945 0.79828
NM_001170629.2(CHD8):c.7182+26del rs35057134 0.26916
NM_001170629.2(CHD8):c.172G>A (p.Val58Met) rs10467770 0.25299
NM_001170629.2(CHD8):c.1601+74T>G rs8015402 0.14733
NM_001170629.2(CHD8):c.1602-125A>G rs17197114 0.12764
NM_001170629.2(CHD8):c.844-122G>A rs57764234 0.10014
NM_001170629.2(CHD8):c.5391-116C>T rs61973167 0.09511
NM_001170629.2(CHD8):c.2730+327A>G rs61973170 0.07637
NM_001170629.2(CHD8):c.2731-285G>A rs7141803 0.07618
NM_001170629.2(CHD8):c.5051+73A>G rs61973169 0.06826
NM_001170629.2(CHD8):c.7182+162G>T rs575071320 0.04973
NM_001170629.2(CHD8):c.2365-68A>T rs11851628 0.04366
NM_001170629.2(CHD8):c.2908-234A>G rs74352743 0.04229
NM_001170629.2(CHD8):c.2364+322A>G rs77637570 0.03690
NM_001170629.2(CHD8):c.1968+253A>G rs61973175 0.03677
NM_001170629.2(CHD8):c.4063-36A>G rs199499304 0.03652
NM_001170629.2(CHD8):c.2226+105G>A rs116179240 0.03645
NM_001170629.2(CHD8):c.5007A>G (p.Ala1669=) rs61752837 0.02585
NM_001170629.2(CHD8):c.1602-151C>G rs11848144 0.02440
NM_001170629.2(CHD8):c.2908-71T>C rs73579663 0.02429
NM_001170629.2(CHD8):c.2364+236C>T rs8015439 0.01915
NM_001170629.2(CHD8):c.3715-85G>T rs80311097 0.01760
NM_001170629.2(CHD8):c.2227-182A>G rs114842481 0.01744
NM_001170629.2(CHD8):c.1601+243A>T rs141185930 0.01696
NM_001170629.2(CHD8):c.7665T>C (p.Asp2555=) rs61748933 0.01650
NM_001170629.2(CHD8):c.3715-235C>A rs79467620 0.01586
NM_001170629.2(CHD8):c.6537C>T (p.Ser2179=) rs61756312 0.01457
NM_001170629.2(CHD8):c.-215-291T>C rs116196747 0.01381
NM_001170629.2(CHD8):c.4371-27A>T rs17792647 0.01288
NM_001170629.2(CHD8):c.1717-29A>C rs75322473 0.01034
NM_001170629.2(CHD8):c.3307+86T>C rs116904182 0.01023
NM_001170629.2(CHD8):c.1716+80C>T rs79484978 0.00918
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_001170629.2(CHD8):c.2364+130A>G rs75816325 0.00794
NM_001170629.2(CHD8):c.3518+75A>C rs149897511 0.00779
NM_001170629.2(CHD8):c.4174-128A>G rs116406114 0.00756
NM_001170629.2(CHD8):c.2730+106A>G rs115057140 0.00744
NM_001170629.2(CHD8):c.1602-166del rs145753993 0.00639
NM_001170629.2(CHD8):c.2373G>A (p.Pro791=) rs61752838 0.00607
NM_001170629.2(CHD8):c.4371-51_4371-50del rs377119444 0.00601
NM_001170629.2(CHD8):c.1602-54A>G rs150488216 0.00591
NM_001170629.2(CHD8):c.2907+121G>T rs57687361 0.00588
NM_001170629.2(CHD8):c.7183-155T>A rs114865139 0.00580
NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser) rs61744458 0.00579
NM_001170629.2(CHD8):c.5391-41G>T rs114552100 0.00554
NM_001170629.2(CHD8):c.4818-63T>A rs140676325 0.00543
NM_001170629.2(CHD8):c.5121T>C (p.Asp1707=) rs61729945 0.00441
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001170629.2(CHD8):c.2907+265T>C rs559569308 0.00420
NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=) rs61736703 0.00383
NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val) rs200056646 0.00371
NM_001170629.2(CHD8):c.2730+54C>T rs185649994 0.00370
NM_001170629.2(CHD8):c.5391-33_5391-31del rs538923023 0.00358
NM_001170629.2(CHD8):c.2907+58G>A rs181670352 0.00328
NM_001170629.2(CHD8):c.3308-257C>T rs56697268 0.00312
NM_001170629.2(CHD8):c.7183-64G>A rs141744282 0.00303
NM_001170629.2(CHD8):c.145A>G (p.Met49Val) rs181830482 0.00300
NM_001170629.2(CHD8):c.6571T>C (p.Leu2191=) rs61741241 0.00297
NM_001170629.2(CHD8):c.5391-40T>C rs188442867 0.00262
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001170629.2(CHD8):c.*148C>T rs538945835 0.00244
NM_001170629.2(CHD8):c.2907+12A>T rs200189975 0.00186
NM_001170629.2(CHD8):c.4921+16T>A rs142564496 0.00185
NM_001170629.2(CHD8):c.4173+11T>C rs143716456 0.00160
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001170629.2(CHD8):c.2025-36A>G rs187044867 0.00125
NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln) rs149307240 0.00125
NM_001170629.2(CHD8):c.4728-19C>T rs187327123 0.00111
NM_001170629.2(CHD8):c.2487-15A>G rs374458289 0.00104
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001170629.2(CHD8):c.4921+7A>G rs375587003 0.00100
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001170629.2(CHD8):c.5391-22T>C rs77562111 0.00096
NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg) rs201074234 0.00091
NM_001170629.2(CHD8):c.2362G>A (p.Val788Met) rs191366877 0.00088
NM_001170629.2(CHD8):c.4571-10C>A rs150205863 0.00088
NM_001170629.2(CHD8):c.7203G>A (p.Val2401=) rs181239271 0.00084
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=) rs370827611 0.00080
NM_001170629.2(CHD8):c.3519-48C>T rs150706384 0.00078
NM_001170629.2(CHD8):c.3715-15T>G rs369876599 0.00076
NM_001170629.2(CHD8):c.1968+26A>T rs373145325 0.00075
NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=) rs201856289 0.00075
NM_001170629.2(CHD8):c.2142+35C>T rs191496918 0.00070
NM_001170629.2(CHD8):c.5051+19T>A rs138127807 0.00066
NM_001170629.2(CHD8):c.3882+6T>C rs373037739 0.00059
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.2907+46G>A rs370847692 0.00045
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001170629.2(CHD8):c.5128-34C>T rs58514360 0.00043
NM_001170629.2(CHD8):c.7472T>C (p.Met2491Thr) rs551653039 0.00041
NM_001170629.2(CHD8):c.3714+4A>G rs191258109 0.00039
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=) rs61752836 0.00037
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001170629.2(CHD8):c.6312G>A (p.Glu2104=) rs118140634 0.00030
NM_001170629.2(CHD8):c.5817C>T (p.Arg1939=) rs140310602 0.00029
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) rs188900504 0.00028
NM_001170629.2(CHD8):c.1215+14A>C rs368399589 0.00024
NM_001170629.2(CHD8):c.7431G>A (p.Met2477Ile) rs375405457 0.00024
NM_001170629.2(CHD8):c.1601+29C>T rs375282372 0.00022
NM_001170629.2(CHD8):c.2487-37C>T rs541093415 0.00022
NM_001170629.2(CHD8):c.5483G>A (p.Arg1828His) rs199908540 0.00022
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001170629.2(CHD8):c.4752A>G (p.Leu1584=) rs61756311 0.00019
NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe) rs200566427 0.00019
NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val) rs376775890 0.00017
NM_001170629.2(CHD8):c.1080G>A (p.Ser360=) rs769647344 0.00016
NM_001170629.2(CHD8):c.1716+36C>A rs143279762 0.00016
NM_001170629.2(CHD8):c.5665C>T (p.Arg1889Cys) rs201802014 0.00016
NM_001170629.2(CHD8):c.4570+14C>T rs537282522 0.00014
NM_001170629.2(CHD8):c.2907+45C>T rs138832292 0.00013
NM_001170629.2(CHD8):c.5683C>T (p.Arg1895Cys) rs200514547 0.00013
NM_001170629.2(CHD8):c.7496C>A (p.Pro2499His) rs1212151127 0.00013
NM_001170629.2(CHD8):c.6402T>C (p.Asp2134=) rs371884365 0.00011
NM_001170629.2(CHD8):c.363A>G (p.Gln121=) rs769622502 0.00010
NM_001170629.2(CHD8):c.5214C>T (p.Phe1738=) rs532921100 0.00010
NM_001170629.2(CHD8):c.1473C>T (p.Ser491=) rs373467208 0.00009
NM_001170629.2(CHD8):c.3519-12A>G rs748585964 0.00009
NM_001170629.2(CHD8):c.4410C>T (p.Phe1470=) rs373148846 0.00009
NM_001170629.2(CHD8):c.5607C>T (p.Pro1869=) rs537080482 0.00009
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu) rs374435577 0.00009
NM_001170629.2(CHD8):c.398A>G (p.Asn133Ser) rs753610507 0.00008
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His) rs373607095 0.00008
NM_001170629.2(CHD8):c.7229T>C (p.Ile2410Thr) rs765016238 0.00007
NM_001170629.2(CHD8):c.1809T>C (p.Asp603=) rs755210469 0.00006
NM_001170629.2(CHD8):c.4896G>A (p.Ser1632=) rs151289731 0.00006
NM_001170629.2(CHD8):c.5265G>A (p.Ala1755=) rs374201033 0.00006
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001170629.2(CHD8):c.2318G>A (p.Arg773Gln) rs763874660 0.00005
NM_001170629.2(CHD8):c.315A>G (p.Pro105=) rs759477487 0.00005
NM_001170629.2(CHD8):c.4418G>A (p.Arg1473His) rs779590262 0.00005
NM_001170629.2(CHD8):c.844-160A>T rs757082935 0.00005
NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu) rs530700201 0.00004
NM_001170629.2(CHD8):c.4343G>A (p.Arg1448Gln) rs915195873 0.00004
NM_001170629.2(CHD8):c.4484G>A (p.Arg1495His) rs376523446 0.00004
NM_001170629.2(CHD8):c.4817+14A>G rs754410131 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001170629.2(CHD8):c.6539G>A (p.Arg2180His) rs778904376 0.00004
NM_001170629.2(CHD8):c.7569C>A (p.Thr2523=) rs376217321 0.00004
NM_001170629.2(CHD8):c.7675A>G (p.Arg2559Gly) rs563339561 0.00004
NM_001170629.2(CHD8):c.1842C>G (p.Leu614=) rs376100482 0.00003
NM_001170629.2(CHD8):c.254C>T (p.Pro85Leu) rs886043611 0.00003
NM_001170629.2(CHD8):c.2655C>T (p.Asn885=) rs371541713 0.00003
NM_001170629.2(CHD8):c.3126A>G (p.Ala1042=) rs773109422 0.00003
NM_001170629.2(CHD8):c.4174-10C>G rs775511122 0.00003
NM_001170629.2(CHD8):c.4310G>A (p.Arg1437His) rs1176349106 0.00003
NM_001170629.2(CHD8):c.4727+3A>G rs762971007 0.00003
NM_001170629.2(CHD8):c.5070T>C (p.Asp1690=) rs369235291 0.00003
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001170629.2(CHD8):c.5816G>A (p.Arg1939His) rs751815253 0.00003
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln) rs370062980 0.00003
NM_001170629.2(CHD8):c.622G>A (p.Gly208Ser) rs377359922 0.00003
NM_001170629.2(CHD8):c.6344A>G (p.Tyr2115Cys) rs201035068 0.00003
NM_001170629.2(CHD8):c.6373A>G (p.Met2125Val) rs377109513 0.00003
NM_001170629.2(CHD8):c.6405A>G (p.Gly2135=) rs745467579 0.00003
NM_001170629.2(CHD8):c.667G>C (p.Val223Leu) rs369329090 0.00003
NM_001170629.2(CHD8):c.7490A>C (p.His2497Pro) rs866434305 0.00003
NM_001170629.2(CHD8):c.7493A>C (p.His2498Pro) rs1174920611 0.00003
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=) rs898418482 0.00002
NM_001170629.2(CHD8):c.1477C>T (p.Arg493Trp) rs774630592 0.00002
NM_001170629.2(CHD8):c.1562C>T (p.Thr521Ile) rs779470673 0.00002
NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro) rs1064795811 0.00002
NM_001170629.2(CHD8):c.2016C>T (p.Tyr672=) rs992446349 0.00002
NM_001170629.2(CHD8):c.2229C>T (p.Pro743=) rs766074272 0.00002
NM_001170629.2(CHD8):c.256G>A (p.Ala86Thr) rs1055413765 0.00002
NM_001170629.2(CHD8):c.2650A>G (p.Met884Val) rs373072733 0.00002
NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu) rs1889555015 0.00002
NM_001170629.2(CHD8):c.3396C>T (p.Ala1132=) rs200180762 0.00002
NM_001170629.2(CHD8):c.3966C>T (p.Gly1322=) rs1171603040 0.00002
NM_001170629.2(CHD8):c.400C>T (p.Pro134Ser) rs763843295 0.00002
NM_001170629.2(CHD8):c.4462G>C (p.Val1488Leu) rs754553508 0.00002
NM_001170629.2(CHD8):c.4483C>T (p.Arg1495Cys) rs766456579 0.00002
NM_001170629.2(CHD8):c.4935T>C (p.Tyr1645=) rs376726906 0.00002
NM_001170629.2(CHD8):c.5820T>C (p.His1940=) rs750311902 0.00002
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly) rs770184277 0.00002
NM_001170629.2(CHD8):c.6166C>T (p.Arg2056Trp) rs769828519 0.00002
NM_001170629.2(CHD8):c.676G>A (p.Ala226Thr) rs750335653 0.00002
NM_001170629.2(CHD8):c.852G>A (p.Ser284=) rs765203840 0.00002
NM_001170629.2(CHD8):c.-1G>A rs375043337 0.00001
NM_001170629.2(CHD8):c.-3A>G rs1331518100 0.00001
NM_001170629.2(CHD8):c.1057A>T (p.Ile353Phe) rs759245173 0.00001
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu) rs746163664 0.00001
NM_001170629.2(CHD8):c.1216-21G>A rs377451081 0.00001
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr) rs565918098 0.00001
NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly) rs1435998081 0.00001
NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln) rs755646683 0.00001
NM_001170629.2(CHD8):c.1491A>G (p.Glu497=) rs767511854 0.00001
NM_001170629.2(CHD8):c.1755T>C (p.Tyr585=) rs1057275346 0.00001
NM_001170629.2(CHD8):c.1899+5G>A rs1555316496 0.00001
NM_001170629.2(CHD8):c.21T>G (p.Asp7Glu) rs769940681 0.00001
NM_001170629.2(CHD8):c.2364+2T>C rs748109741 0.00001
NM_001170629.2(CHD8):c.2383G>A (p.Ala795Thr) rs1363064989 0.00001
NM_001170629.2(CHD8):c.2700A>G (p.Gln900=) rs768170046 0.00001
NM_001170629.2(CHD8):c.3275G>A (p.Arg1092His) rs1215755967 0.00001
NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln) rs970353812 0.00001
NM_001170629.2(CHD8):c.3338G>A (p.Arg1113His) rs182713755 0.00001
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu) rs767023297 0.00001
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_001170629.2(CHD8):c.4802G>C (p.Gly1601Ala) rs1392208482 0.00001
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His) rs1055883888 0.00001
NM_001170629.2(CHD8):c.4851A>G (p.Gln1617=) rs764738563 0.00001
NM_001170629.2(CHD8):c.489G>A (p.Lys163=) rs746419088 0.00001
NM_001170629.2(CHD8):c.493C>T (p.Pro165Ser) rs1011766590 0.00001
NM_001170629.2(CHD8):c.5052-14C>T rs772535596 0.00001
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr) rs369748510 0.00001
NM_001170629.2(CHD8):c.5222C>T (p.Pro1741Leu) rs749428842 0.00001
NM_001170629.2(CHD8):c.5224G>T (p.Gly1742Cys) rs1405068764 0.00001
NM_001170629.2(CHD8):c.5324G>A (p.Arg1775Gln) rs757486587 0.00001
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001170629.2(CHD8):c.5390+6A>G rs778452195 0.00001
NM_001170629.2(CHD8):c.5434A>G (p.Thr1812Ala) rs755228158 0.00001
NM_001170629.2(CHD8):c.545G>A (p.Gly182Asp) rs752375264 0.00001
NM_001170629.2(CHD8):c.5518G>A (p.Asp1840Asn) rs1031408052 0.00001
NM_001170629.2(CHD8):c.5790T>C (p.Asp1930=) rs778154578 0.00001
NM_001170629.2(CHD8):c.5819A>G (p.His1940Arg) rs758143375 0.00001
NM_001170629.2(CHD8):c.5878G>A (p.Ala1960Thr) rs1029580412 0.00001
NM_001170629.2(CHD8):c.6035C>T (p.Thr2012Ile) rs778530750 0.00001
NM_001170629.2(CHD8):c.605T>C (p.Phe202Ser) rs1384889551 0.00001
NM_001170629.2(CHD8):c.6206C>T (p.Ser2069Leu) rs200858701 0.00001
NM_001170629.2(CHD8):c.621C>T (p.Thr207=) rs370423608 0.00001
NM_001170629.2(CHD8):c.6248C>T (p.Ser2083Phe) rs545239905 0.00001
NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln) rs771587494 0.00001
NM_001170629.2(CHD8):c.6392C>T (p.Pro2131Leu) rs794727559 0.00001
NM_001170629.2(CHD8):c.6619G>A (p.Glu2207Lys) rs1291902630 0.00001
NM_001170629.2(CHD8):c.6635C>T (p.Pro2212Leu) rs1276002313 0.00001
NM_001170629.2(CHD8):c.689G>A (p.Gly230Glu) rs377106650 0.00001
NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His) rs1887513652 0.00001
NM_001170629.2(CHD8):c.7115A>G (p.Asn2372Ser) rs1169004595 0.00001
NM_001170629.2(CHD8):c.7182+4A>T rs1383610756 0.00001
NM_001170629.2(CHD8):c.7248G>A (p.Lys2416=) rs377600590 0.00001
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_001170629.2(CHD8):c.7267C>G (p.Arg2423Gly) rs1555312075 0.00001
NM_001170629.2(CHD8):c.7338G>A (p.Thr2446=) rs746978340 0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) rs967570036 0.00001
NM_001170629.2(CHD8):c.7G>A (p.Asp3Asn) rs778721199 0.00001
GRCh37/hg19 14q11.2(chr14:21869505-21919003)x1
GRCh37/hg19 14q11.2(chr14:21887312-21918282)
NM_001170629.1(CHD8):c.5053delG
NM_001170629.2(CHD8):c.*142del rs370612022
NM_001170629.2(CHD8):c.-179T>A
NM_001170629.2(CHD8):c.-5C>T
NM_001170629.2(CHD8):c.-6C>A rs2139540982
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1056G>A (p.Gln352=)
NM_001170629.2(CHD8):c.1074A>G (p.Pro358=)
NM_001170629.2(CHD8):c.1080_1085dup (p.362PQ[3]) rs2139534520
NM_001170629.2(CHD8):c.1090C>T (p.Pro364Ser)
NM_001170629.2(CHD8):c.1093C>T (p.Gln365Ter) rs746163664
NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)
NM_001170629.2(CHD8):c.1102C>G (p.Pro368Ala) rs2139534434
NM_001170629.2(CHD8):c.1107C>T (p.Ser369=) rs1418170692
NM_001170629.2(CHD8):c.1138C>T (p.Gln380Ter)
NM_001170629.2(CHD8):c.1157C>A (p.Pro386Gln) rs966883163
NM_001170629.2(CHD8):c.1162C>A (p.Gln388Lys)
NM_001170629.2(CHD8):c.1166G>A (p.Ser389Asn)
NM_001170629.2(CHD8):c.1167C>T (p.Ser389=)
NM_001170629.2(CHD8):c.1176A>G (p.Gln392=)
NM_001170629.2(CHD8):c.117_133del (p.Pro40fs) rs1566446604
NM_001170629.2(CHD8):c.1183T>C (p.Ser395Pro)
NM_001170629.2(CHD8):c.1186G>C (p.Val396Leu)
NM_001170629.2(CHD8):c.1195A>C (p.Lys399Gln) rs1064795674
NM_001170629.2(CHD8):c.1203A>G (p.Val401=)
NM_001170629.2(CHD8):c.1215+10T>C
NM_001170629.2(CHD8):c.1215+13C>A
NM_001170629.2(CHD8):c.1215+14A>G
NM_001170629.2(CHD8):c.1215+15T>C
NM_001170629.2(CHD8):c.1215+4A>G
NM_001170629.2(CHD8):c.1216-14C>T
NM_001170629.2(CHD8):c.1219G>A (p.Gly407Ser)
NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)
NM_001170629.2(CHD8):c.1231G>C (p.Gly411Arg)
NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)
NM_001170629.2(CHD8):c.1257T>G (p.Val419=)
NM_001170629.2(CHD8):c.1261G>A (p.Val421Ile)
NM_001170629.2(CHD8):c.1263T>A (p.Val421=)
NM_001170629.2(CHD8):c.1266G>A (p.Leu422=)
NM_001170629.2(CHD8):c.1272C>T (p.Ala424=)
NM_001170629.2(CHD8):c.1275T>G (p.Ser425Arg) rs2139532120
NM_001170629.2(CHD8):c.1293A>C (p.Ser431=) rs886042608
NM_001170629.2(CHD8):c.1299A>C (p.Pro433=)
NM_001170629.2(CHD8):c.1301C>G (p.Ala434Gly)
NM_001170629.2(CHD8):c.1319C>T (p.Ser440Leu)
NM_001170629.2(CHD8):c.1320G>C (p.Ser440=)
NM_001170629.2(CHD8):c.1323G>A (p.Gly441=)
NM_001170629.2(CHD8):c.1338G>T (p.Met446Ile)
NM_001170629.2(CHD8):c.1339G>C (p.Glu447Gln)
NM_001170629.2(CHD8):c.133_134delinsAG (p.Ser45=)
NM_001170629.2(CHD8):c.1343A>G (p.Glu448Gly) rs1566443647
NM_001170629.2(CHD8):c.1351A>T (p.Arg451Ter) rs1435998081
NM_001170629.2(CHD8):c.1387C>A (p.Arg463=)
NM_001170629.2(CHD8):c.1387C>T (p.Arg463Trp)
NM_001170629.2(CHD8):c.1395A>G (p.Val465=)
NM_001170629.2(CHD8):c.1425C>T (p.Arg475=)
NM_001170629.2(CHD8):c.142C>T (p.Gln48Ter) rs1555318734
NM_001170629.2(CHD8):c.1444C>T (p.Arg482Ter) rs2139531559
NM_001170629.2(CHD8):c.1459G>A (p.Asp487Asn)
NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)
NM_001170629.2(CHD8):c.1478G>C (p.Arg493Pro)
NM_001170629.2(CHD8):c.1493G>A (p.Gly498Asp) rs759350991
NM_001170629.2(CHD8):c.1494C>T (p.Gly498=)
NM_001170629.2(CHD8):c.1505G>A (p.Arg502His)
NM_001170629.2(CHD8):c.1540G>T (p.Glu514Ter) rs1555318013
NM_001170629.2(CHD8):c.1542G>C (p.Glu514Asp) rs1423867231
NM_001170629.2(CHD8):c.1550A>C (p.Lys517Thr)
NM_001170629.2(CHD8):c.1558A>G (p.Lys520Glu)
NM_001170629.2(CHD8):c.1559A>G (p.Lys520Arg) rs1064794510
NM_001170629.2(CHD8):c.1566del (p.Gly523fs) rs1555318001
NM_001170629.2(CHD8):c.1567G>A (p.Gly523Ser)
NM_001170629.2(CHD8):c.1572C>T (p.Ala524=)
NM_001170629.2(CHD8):c.1573T>C (p.Ser525Pro) rs771409666
NM_001170629.2(CHD8):c.1573T>G (p.Ser525Ala)
NM_001170629.2(CHD8):c.1581A>T (p.Thr527=)
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.158G>C (p.Gly53Ala)
NM_001170629.2(CHD8):c.1594A>C (p.Lys532Gln) rs1555317983
NM_001170629.2(CHD8):c.1599_1601+6delinsGAAGTGAGG
NM_001170629.2(CHD8):c.159T>C (p.Gly53=)
NM_001170629.2(CHD8):c.15C>G (p.Ile5Met) rs1889567529
NM_001170629.2(CHD8):c.1601+11C>T
NM_001170629.2(CHD8):c.1601+5G>A rs2139531134
NM_001170629.2(CHD8):c.1608C>T (p.Ile536=)
NM_001170629.2(CHD8):c.1612C>A (p.Pro538Thr) rs1456299794
NM_001170629.2(CHD8):c.1616T>C (p.Val539Ala)
NM_001170629.2(CHD8):c.161G>T (p.Gly54Val) rs1057519411
NM_001170629.2(CHD8):c.1636C>T (p.Arg546Cys)
NM_001170629.2(CHD8):c.1643C>A (p.Thr548Asn)
NM_001170629.2(CHD8):c.1689T>A (p.Pro563=) rs1566441828
NM_001170629.2(CHD8):c.1690C>A (p.Arg564=)
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.1691G>A (p.Arg564Gln)
NM_001170629.2(CHD8):c.1691G>C (p.Arg564Pro)
NM_001170629.2(CHD8):c.1716+10T>C
NM_001170629.2(CHD8):c.1717-21dup
NM_001170629.2(CHD8):c.1717-8C>G
NM_001170629.2(CHD8):c.1717-9G>C
NM_001170629.2(CHD8):c.1720del (p.Arg574fs) rs2139499999
NM_001170629.2(CHD8):c.1725C>T (p.Arg575=)
NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter) rs1888700404
NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys) rs1888700304
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)
NM_001170629.2(CHD8):c.1752dup (p.Tyr585fs)
NM_001170629.2(CHD8):c.175G>T (p.Gly59Trp)
NM_001170629.2(CHD8):c.1767G>A (p.Leu589=)
NM_001170629.2(CHD8):c.1776G>C (p.Lys592Asn)
NM_001170629.2(CHD8):c.177G>T (p.Gly59=)
NM_001170629.2(CHD8):c.1788T>A (p.Asp596Glu) rs2139499884
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) rs757502536
NM_001170629.2(CHD8):c.1802A>T (p.Glu601Val) rs1888697677
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
NM_001170629.2(CHD8):c.1820C>T (p.Pro607Leu)
NM_001170629.2(CHD8):c.1829C>G (p.Pro610Arg) rs1566433762
NM_001170629.2(CHD8):c.1835C>G (p.Pro612Arg)
NM_001170629.2(CHD8):c.1848A>T (p.Glu616Asp) rs1566433722
NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter) rs1331026006
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg) rs1888694098
NM_001170629.2(CHD8):c.1885A>T (p.Met629Leu)
NM_001170629.2(CHD8):c.1889A>G (p.Gln630Arg)
NM_001170629.2(CHD8):c.1890G>A (p.Gln630=)
NM_001170629.2(CHD8):c.1899+2T>G
NM_001170629.2(CHD8):c.1899+8G>A
NM_001170629.2(CHD8):c.1900-11T>G
NM_001170629.2(CHD8):c.1900-19A>G
NM_001170629.2(CHD8):c.1900-8T>C
NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)
NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala) rs2139499311
NM_001170629.2(CHD8):c.1951C>T (p.Arg651Trp) rs1329659775
NM_001170629.2(CHD8):c.1952G>A (p.Arg651Gln)
NM_001170629.2(CHD8):c.1968+14A>T
NM_001170629.2(CHD8):c.1968+249T>C rs59961991
NM_001170629.2(CHD8):c.1968+32ATTT[10] rs34695967
NM_001170629.2(CHD8):c.1968+32ATTT[7] rs34695967
NM_001170629.2(CHD8):c.1969C>T (p.Leu657Phe)
NM_001170629.2(CHD8):c.1973C>T (p.Pro658Leu)
NM_001170629.2(CHD8):c.1974T>G (p.Pro658=)
NM_001170629.2(CHD8):c.200T>A (p.Val67Asp)
NM_001170629.2(CHD8):c.2024+4C>T
NM_001170629.2(CHD8):c.2025-11A>G
NM_001170629.2(CHD8):c.2025-19A>G
NM_001170629.2(CHD8):c.2025-1G>C
NM_001170629.2(CHD8):c.2025-72C>A rs17792659
NM_001170629.2(CHD8):c.2025-72C>G rs17792659
NM_001170629.2(CHD8):c.202C>T (p.Pro68Ser)
NM_001170629.2(CHD8):c.2052T>C (p.Thr684=)
NM_001170629.2(CHD8):c.2053A>C (p.Ile685Leu)
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter) rs1555316331
NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)
NM_001170629.2(CHD8):c.2080A>G (p.Ile694Val)
NM_001170629.2(CHD8):c.208C>T (p.Pro70Ser)
NM_001170629.2(CHD8):c.2093T>G (p.Leu698Ter) rs1555316323
NM_001170629.2(CHD8):c.2099G>A (p.Arg700His) rs1085307545
NM_001170629.2(CHD8):c.2103C>T (p.Phe701=)
NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)
NM_001170629.2(CHD8):c.2133C>A (p.Phe711Leu)
NM_001170629.2(CHD8):c.2143-18G>A
NM_001170629.2(CHD8):c.2171T>G (p.Val724Gly)
NM_001170629.2(CHD8):c.2196G>A (p.Glu732=)
NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
NM_001170629.2(CHD8):c.2200C>G (p.His734Asp) rs1064795709
NM_001170629.2(CHD8):c.2218A>G (p.Asn740Asp) rs2139492486
NM_001170629.2(CHD8):c.2219A>T (p.Asn740Ile) rs761808046
NM_001170629.2(CHD8):c.2226+13G>A
NM_001170629.2(CHD8):c.2226+16A>G
NM_001170629.2(CHD8):c.2226+3G>T rs2139492445
NM_001170629.2(CHD8):c.2226+5G>A rs2139492436
NM_001170629.2(CHD8):c.2227-11T>C
NM_001170629.2(CHD8):c.2227-1G>C
NM_001170629.2(CHD8):c.2240dup (p.Tyr747Ter) rs2139484859
NM_001170629.2(CHD8):c.2245del (p.Leu748_Val749insTer) rs1594352987
NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)
NM_001170629.2(CHD8):c.228A>G (p.Thr76=)
NM_001170629.2(CHD8):c.2304T>G (p.Asp768Glu)
NM_001170629.2(CHD8):c.2309G>A (p.Gly770Asp)
NM_001170629.2(CHD8):c.2317C>T (p.Arg773Ter) rs776631057
NM_001170629.2(CHD8):c.2327A>G (p.Lys776Arg) rs2139484745
NM_001170629.2(CHD8):c.2330G>A (p.Arg777Gln)
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2346C>T (p.His782=)
NM_001170629.2(CHD8):c.2364+1G>C rs2139484699
NM_001170629.2(CHD8):c.2365-10T>G
NM_001170629.2(CHD8):c.2365-15C>T
NM_001170629.2(CHD8):c.2366A>G (p.Asn789Ser)
NM_001170629.2(CHD8):c.2368C>T (p.Arg790Cys) rs776528619
NM_001170629.2(CHD8):c.2369G>A (p.Arg790His)
NM_001170629.2(CHD8):c.236C>G (p.Ser79Cys)
NM_001170629.2(CHD8):c.238A>G (p.Lys80Glu)
NM_001170629.2(CHD8):c.2390A>G (p.Lys797Arg)
NM_001170629.2(CHD8):c.2401C>G (p.Leu801Val)
NM_001170629.2(CHD8):c.2403A>G (p.Leu801=)
NM_001170629.2(CHD8):c.242A>C (p.Glu81Ala)
NM_001170629.2(CHD8):c.2432T>C (p.Leu811Pro)
NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp) rs1057518651
NM_001170629.2(CHD8):c.2435G>A (p.Arg812Gln)
NM_001170629.2(CHD8):c.2439A>G (p.Glu813=)
NM_001170629.2(CHD8):c.2455G>A (p.Val819Ile)
NM_001170629.2(CHD8):c.2476T>A (p.Trp826Arg) rs2139482304
NM_001170629.2(CHD8):c.2480A>T (p.Tyr827Phe)
NM_001170629.2(CHD8):c.2484C>T (p.Asn828=)
NM_001170629.2(CHD8):c.2486+17G>T
NM_001170629.2(CHD8):c.2486+1G>A rs1888355872
NM_001170629.2(CHD8):c.2486+1G>T
NM_001170629.2(CHD8):c.2487-16dup
NM_001170629.2(CHD8):c.2487-19T>C
NM_001170629.2(CHD8):c.2487-19del rs111776414
NM_001170629.2(CHD8):c.2487-1G>C rs2139481823
NM_001170629.2(CHD8):c.2487-28_2487-27dup rs111776414
NM_001170629.2(CHD8):c.2487-28dup rs111776414
NM_001170629.2(CHD8):c.2487-2A>G rs1057524339
NM_001170629.2(CHD8):c.2487-56dup rs145389674
NM_001170629.2(CHD8):c.2487-6C>A
NM_001170629.2(CHD8):c.2493C>T (p.Asn831=)
NM_001170629.2(CHD8):c.2532del (p.Gln845fs)
NM_001170629.2(CHD8):c.2565del (p.Asn855fs) rs1566427770
NM_001170629.2(CHD8):c.2577T>C (p.His859=) rs747598027
NM_001170629.2(CHD8):c.2582_2583delinsT (p.Pro861fs) rs1594351052
NM_001170629.2(CHD8):c.2611A>G (p.Ile871Val)
NM_001170629.2(CHD8):c.2614A>G (p.Thr872Ala)
NM_001170629.2(CHD8):c.2626C>T (p.Arg876Ter) rs1555315679
NM_001170629.2(CHD8):c.2627G>A (p.Arg876Gln)
NM_001170629.2(CHD8):c.2640A>G (p.Thr880=)
NM_001170629.2(CHD8):c.2641T>C (p.Trp881Arg)
NM_001170629.2(CHD8):c.2646A>C (p.Thr882=)
NM_001170629.2(CHD8):c.2652G>A (p.Met884Ile)
NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)
NM_001170629.2(CHD8):c.2662G>T (p.Val888Leu)
NM_001170629.2(CHD8):c.2670T>C (p.His890=)
NM_001170629.2(CHD8):c.2684G>A (p.Ser895Asn)
NM_001170629.2(CHD8):c.2687G>A (p.Arg896Lys)
NM_001170629.2(CHD8):c.2690A>T (p.Gln897Leu)
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.2703G>A (p.Gln901=)
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.2729G>A (p.Arg910Gln)
NM_001170629.2(CHD8):c.2730+19G>A
NM_001170629.2(CHD8):c.2730+1G>C
NM_001170629.2(CHD8):c.2731-24_2731-7delinsCTAAGCATGAAG
NM_001170629.2(CHD8):c.2748C>T (p.Gly916=)
NM_001170629.2(CHD8):c.2763C>T (p.Asp921=)
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr) rs1013103711
NM_001170629.2(CHD8):c.2766T>C (p.Ala922=)
NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter) rs1888277745
NM_001170629.2(CHD8):c.2805T>C (p.Pro935=)
NM_001170629.2(CHD8):c.2811del (p.Arg938fs) rs1888277300
NM_001170629.2(CHD8):c.2812C>T (p.Arg938Cys)
NM_001170629.2(CHD8):c.2813G>A (p.Arg938His)
NM_001170629.2(CHD8):c.2823A>G (p.Glu941=) rs547587617
NM_001170629.2(CHD8):c.2831_2835del (p.Cys944fs) rs797044853
NM_001170629.2(CHD8):c.2836A>G (p.Ile946Val)
NM_001170629.2(CHD8):c.2841_2845delinsATC (p.Asp948fs) rs2139478486
NM_001170629.2(CHD8):c.2845G>T (p.Glu949Ter) rs1555315488
NM_001170629.2(CHD8):c.2849C>G (p.Ala950Gly)
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.2855G>A (p.Arg952Gln) rs2139478468
NM_001170629.2(CHD8):c.2866_2868delinsAGTA (p.Arg956fs) rs1594349020
NM_001170629.2(CHD8):c.2867G>A (p.Arg956His) rs2139478439
NM_001170629.2(CHD8):c.2885A>T (p.Asp962Val) rs2139478403
NM_001170629.2(CHD8):c.289A>G (p.Thr97Ala)
NM_001170629.2(CHD8):c.289A>T (p.Thr97Ser) rs1594379991
NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)
NM_001170629.2(CHD8):c.28G>T (p.Asp10Tyr) rs767231058
NM_001170629.2(CHD8):c.2907+18T>C
NM_001170629.2(CHD8):c.2908-168_2908-167del rs141397644
NM_001170629.2(CHD8):c.2908G>A (p.Glu970Lys) rs1555315362
NM_001170629.2(CHD8):c.290C>G (p.Thr97Ser)
NM_001170629.2(CHD8):c.2934A>G (p.Thr978=)
NM_001170629.2(CHD8):c.2936C>T (p.Pro979Leu)
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.295C>T (p.Pro99Ser)
NM_001170629.2(CHD8):c.2966G>A (p.Ser989Asn)
NM_001170629.2(CHD8):c.2979_2981del (p.Phe993del) rs1555315345
NM_001170629.2(CHD8):c.2988G>A (p.Pro996=)
NM_001170629.2(CHD8):c.2992C>T (p.Gln998Ter) rs886041968
NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg) rs765569494
NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter) rs1888229658
NM_001170629.2(CHD8):c.3018C>T (p.Leu1006=)
NM_001170629.2(CHD8):c.3020A>G (p.Lys1007Arg)
NM_001170629.2(CHD8):c.3021G>C (p.Lys1007Asn)
NM_001170629.2(CHD8):c.3028G>A (p.Gly1010Arg)
NM_001170629.2(CHD8):c.302G>A (p.Ser101Asn)
NM_001170629.2(CHD8):c.302G>T (p.Ser101Ile)
NM_001170629.2(CHD8):c.303C>T (p.Ser101=)
NM_001170629.2(CHD8):c.3051+18T>G
NM_001170629.2(CHD8):c.3051+24A>C rs150422713
NM_001170629.2(CHD8):c.3052-11A>G rs1888218188
NM_001170629.2(CHD8):c.306G>A (p.Gln102=)
NM_001170629.2(CHD8):c.307G>A (p.Glu103Lys)
NM_001170629.2(CHD8):c.3119del (p.Asn1040fs)
NM_001170629.2(CHD8):c.3140C>T (p.Thr1047Ile)
NM_001170629.2(CHD8):c.3152T>G (p.Val1051Gly) rs794727141
NM_001170629.2(CHD8):c.3163A>G (p.Asn1055Asp) rs2139475087
NM_001170629.2(CHD8):c.3166A>G (p.Ile1056Val) rs2139475081
NM_001170629.2(CHD8):c.3185G>A (p.Arg1062Gln)
NM_001170629.2(CHD8):c.31G>A (p.Asp11Asn) rs2139540870
NM_001170629.2(CHD8):c.3205T>G (p.Phe1069Val) rs1284737987
NM_001170629.2(CHD8):c.320A>G (p.Gln107Arg) rs2139540187
NM_001170629.2(CHD8):c.3213C>T (p.Phe1071=)
NM_001170629.2(CHD8):c.3214C>T (p.Leu1072Phe)
NM_001170629.2(CHD8):c.321A>G (p.Gln107=)
NM_001170629.2(CHD8):c.3226G>T (p.Ala1076Ser)
NM_001170629.2(CHD8):c.3229G>A (p.Gly1077Ser)
NM_001170629.2(CHD8):c.322C>G (p.Pro108Ala)
NM_001170629.2(CHD8):c.325G>A (p.Val109Ile)
NM_001170629.2(CHD8):c.3274C>T (p.Arg1092Cys) rs1439223724
NM_001170629.2(CHD8):c.3287A>G (p.Asn1096Ser)
NM_001170629.2(CHD8):c.3291C>A (p.His1097Gln) rs1555315221
NM_001170629.2(CHD8):c.3294A>G (p.Pro1098=)
NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)
NM_001170629.2(CHD8):c.3305A>G (p.Asn1102Ser) rs369247427
NM_001170629.2(CHD8):c.3307+13T>C
NM_001170629.2(CHD8):c.3307+1G>A rs2139474867
NM_001170629.2(CHD8):c.3307+6G>A
NM_001170629.2(CHD8):c.3308-14T>A
NM_001170629.2(CHD8):c.3308-163G>T rs116235357
NM_001170629.2(CHD8):c.3308-1G>A rs1888129073
NM_001170629.2(CHD8):c.3308-1G>C rs1888129073
NM_001170629.2(CHD8):c.3308-2A>G rs2139470242
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3312T>C (p.Ala1104=)
NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs) rs1157888951
NM_001170629.2(CHD8):c.3325C>G (p.Leu1109Val)
NM_001170629.2(CHD8):c.3331_3332del (p.Glu1111fs) rs2139470170
NM_001170629.2(CHD8):c.3338del (p.Arg1113fs) rs1594344768
NM_001170629.2(CHD8):c.3340G>C (p.Glu1114Gln) rs1555314993
NM_001170629.2(CHD8):c.3345T>C (p.Ala1115=)
NM_001170629.2(CHD8):c.3347G>T (p.Cys1116Phe)
NM_001170629.2(CHD8):c.3352A>G (p.Ile1118Val)
NM_001170629.2(CHD8):c.3354T>A (p.Ile1118=)
NM_001170629.2(CHD8):c.3356T>C (p.Ile1119Thr)
NM_001170629.2(CHD8):c.3362A>G (p.His1121Arg)
NM_001170629.2(CHD8):c.3366C>T (p.Asp1122=)
NM_001170629.2(CHD8):c.336A>G (p.Thr112=)
NM_001170629.2(CHD8):c.336dup (p.Ser113fs) rs1555318675
NM_001170629.2(CHD8):c.3370C>A (p.His1124Asn)
NM_001170629.2(CHD8):c.3371A>T (p.His1124Leu) rs1566423820
NM_001170629.2(CHD8):c.3373C>T (p.Leu1125=)
NM_001170629.2(CHD8):c.3387T>G (p.Val1129=)
NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)
NM_001170629.2(CHD8):c.338C>G (p.Ser113Trp)
NM_001170629.2(CHD8):c.3393A>C (p.Ser1131=) rs1566423758
NM_001170629.2(CHD8):c.339G>A (p.Ser113=)
NM_001170629.2(CHD8):c.3413T>C (p.Ile1138Thr)
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
NM_001170629.2(CHD8):c.3474G>A (p.Met1158Ile)
NM_001170629.2(CHD8):c.3479G>A (p.Arg1160His)
NM_001170629.2(CHD8):c.347del (p.Thr116fs) rs1135401763
NM_001170629.2(CHD8):c.3483C>T (p.Cys1161=)
NM_001170629.2(CHD8):c.3489C>T (p.Asp1163=)
NM_001170629.2(CHD8):c.3492C>T (p.Ile1164=) rs748583001
NM_001170629.2(CHD8):c.349T>C (p.Ser117Pro)
NM_001170629.2(CHD8):c.3501T>C (p.Asp1167=)
NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn) rs2139469836
NM_001170629.2(CHD8):c.3503A>G (p.Tyr1168Cys)
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.3514A>G (p.Arg1172Gly)
NM_001170629.2(CHD8):c.3518+27_3518+37del rs377091970
NM_001170629.2(CHD8):c.3518+5G>A
NM_001170629.2(CHD8):c.3518+7_3518+11del
NM_001170629.2(CHD8):c.3518G>A (p.Arg1173Lys)
NM_001170629.2(CHD8):c.3519-14C>T
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter) rs1888108124
NM_001170629.2(CHD8):c.3524T>G (p.Leu1175Ter) rs1888108039
NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)
NM_001170629.2(CHD8):c.3533G>A (p.Arg1178His) rs1888107694
NM_001170629.2(CHD8):c.3535A>C (p.Ile1179Leu)
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3580C>T (p.Arg1194Cys)
NM_001170629.2(CHD8):c.3587G>C (p.Ser1196Thr)
NM_001170629.2(CHD8):c.3592C>A (p.Pro1198Thr)
NM_001170629.2(CHD8):c.3604C>A (p.Arg1202Ser)
NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)
NM_001170629.2(CHD8):c.3623del (p.Cys1208fs) rs1594344154
NM_001170629.2(CHD8):c.3628C>T (p.Arg1210Trp) rs757278444
NM_001170629.2(CHD8):c.3629G>A (p.Arg1210Gln) rs2139468962
NM_001170629.2(CHD8):c.3633T>C (p.Ala1211=)
NM_001170629.2(CHD8):c.3638del (p.Gly1213fs) rs1888105256
NM_001170629.2(CHD8):c.3646A>G (p.Ile1216Val)
NM_001170629.2(CHD8):c.3672C>T (p.Cys1224=)
NM_001170629.2(CHD8):c.3683A>G (p.Asp1228Gly)
NM_001170629.2(CHD8):c.3686C>A (p.Ser1229Ter) rs1555314895
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter) rs397514551
NM_001170629.2(CHD8):c.3715-14T>C
NM_001170629.2(CHD8):c.371A>G (p.Lys124Arg)
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter) rs1555314788
NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln) rs2139467378
NM_001170629.2(CHD8):c.3725G>T (p.Arg1242Leu)
NM_001170629.2(CHD8):c.372G>C (p.Lys124Asn)
NM_001170629.2(CHD8):c.3733C>T (p.Arg1245Ter) rs886041884
NM_001170629.2(CHD8):c.3762G>A (p.Val1254=)
NM_001170629.2(CHD8):c.3772A>C (p.Ile1258Leu) rs1888076992
NM_001170629.2(CHD8):c.3778C>T (p.Arg1260Cys)
NM_001170629.2(CHD8):c.3779G>A (p.Arg1260His)
NM_001170629.2(CHD8):c.3785C>G (p.Ser1262Cys) rs2139467272
NM_001170629.2(CHD8):c.3786C>T (p.Ser1262=)
NM_001170629.2(CHD8):c.3789C>T (p.Tyr1263=)
NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs) rs2139467241
NM_001170629.2(CHD8):c.3792G>C (p.Glu1264Asp)
NM_001170629.2(CHD8):c.382A>G (p.Ile128Val)
NM_001170629.2(CHD8):c.3831G>A (p.Leu1277=)
NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)
NM_001170629.2(CHD8):c.3849A>G (p.Gln1283=)
NM_001170629.2(CHD8):c.384C>A (p.Ile128=)
NM_001170629.2(CHD8):c.3872A>G (p.Asn1291Ser)
NM_001170629.2(CHD8):c.3874A>G (p.Ile1292Val)
NM_001170629.2(CHD8):c.3882+19T>C
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.3883-13T>C
NM_001170629.2(CHD8):c.3885C>A (p.Ile1295=)
NM_001170629.2(CHD8):c.3885C>T (p.Ile1295=)
NM_001170629.2(CHD8):c.3888A>G (p.Gln1296=)
NM_001170629.2(CHD8):c.3902A>G (p.Lys1301Arg)
NM_001170629.2(CHD8):c.3918T>C (p.Leu1306=)
NM_001170629.2(CHD8):c.3939A>G (p.Ala1313=)
NM_001170629.2(CHD8):c.393A>G (p.Gln131=) rs1594379704
NM_001170629.2(CHD8):c.3940G>A (p.Ala1314Thr)
NM_001170629.2(CHD8):c.3964G>C (p.Gly1322Arg) rs1057523712
NM_001170629.2(CHD8):c.3965G>C (p.Gly1322Ala)
NM_001170629.2(CHD8):c.3971A>C (p.Lys1324Thr)
NM_001170629.2(CHD8):c.3984G>A (p.Glu1328=)
NM_001170629.2(CHD8):c.3G>A (p.Met1Ile)
NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.4023_4028del (p.1340TI[1])
NM_001170629.2(CHD8):c.4027_4028del (p.Thr1342_Ile1343insTer)
NM_001170629.2(CHD8):c.4063-20C>G
NM_001170629.2(CHD8):c.4063-43dup rs113076568
NM_001170629.2(CHD8):c.4073T>C (p.Val1358Ala) rs2139465215
NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)
NM_001170629.2(CHD8):c.408G>C (p.Met136Ile)
NM_001170629.2(CHD8):c.4101T>C (p.Ser1367=)
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) rs752288417
NM_001170629.2(CHD8):c.410G>T (p.Gly137Val)
NM_001170629.2(CHD8):c.4112C>T (p.Pro1371Leu)
NM_001170629.2(CHD8):c.4113C>G (p.Pro1371=) rs576454823
NM_001170629.2(CHD8):c.4115del (p.Asn1372fs) rs1888033166
NM_001170629.2(CHD8):c.4131G>A (p.Trp1377Ter) rs1555314582
NM_001170629.2(CHD8):c.4161G>A (p.Leu1387=)
NM_001170629.2(CHD8):c.4162C>G (p.Leu1388Val)
NM_001170629.2(CHD8):c.416C>A (p.Ser139Tyr) rs1889549675
NM_001170629.2(CHD8):c.416C>G (p.Ser139Cys) rs1889549675
NM_001170629.2(CHD8):c.4174-9T>C
NM_001170629.2(CHD8):c.4174-9_4174-1del rs886039725
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001170629.2(CHD8):c.4210C>T (p.Gln1404Ter) rs1555314489
NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)
NM_001170629.2(CHD8):c.4217G>A (p.Arg1406His) rs770193381
NM_001170629.2(CHD8):c.4218C>T (p.Arg1406=)
NM_001170629.2(CHD8):c.422C>T (p.Thr141Ile) rs1889549384
NM_001170629.2(CHD8):c.4233G>A (p.Leu1411=)
NM_001170629.2(CHD8):c.4239T>C (p.Asp1413=)
NM_001170629.2(CHD8):c.4250T>C (p.Val1417Ala)
NM_001170629.2(CHD8):c.4285C>T (p.Arg1429Trp)
NM_001170629.2(CHD8):c.4286G>A (p.Arg1429Gln)
NM_001170629.2(CHD8):c.4292G>A (p.Arg1431His)
NM_001170629.2(CHD8):c.4297C>T (p.Arg1433Cys)
NM_001170629.2(CHD8):c.4298G>A (p.Arg1433His)
NM_001170629.2(CHD8):c.4312CAT[1] (p.His1439del)
NM_001170629.2(CHD8):c.4326G>C (p.Gly1442=)
NM_001170629.2(CHD8):c.4327C>T (p.Arg1443Cys)
NM_001170629.2(CHD8):c.4331C>T (p.Thr1444Ile) rs1064794449
NM_001170629.2(CHD8):c.4344G>A (p.Arg1448=) rs1566420954
NM_001170629.2(CHD8):c.435C>T (p.Ser145=)
NM_001170629.2(CHD8):c.4363G>A (p.Val1455Ile)
NM_001170629.2(CHD8):c.4365A>G (p.Val1455=)
NM_001170629.2(CHD8):c.4370+12A>G
NM_001170629.2(CHD8):c.4370+15T>C
NM_001170629.2(CHD8):c.4370+20T>C
NM_001170629.2(CHD8):c.4371-14T>G
NM_001170629.2(CHD8):c.4371-18T>C
NM_001170629.2(CHD8):c.4371-5T>C
NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)
NM_001170629.2(CHD8):c.4379G>C (p.Arg1460Pro)
NM_001170629.2(CHD8):c.4384C>T (p.Arg1462Ter)
NM_001170629.2(CHD8):c.4385G>A (p.Arg1462Gln)
NM_001170629.2(CHD8):c.4413G>A (p.Lys1471=)
NM_001170629.2(CHD8):c.4414C>A (p.Arg1472=)
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter) rs991738444
NM_001170629.2(CHD8):c.4417C>T (p.Arg1473Cys)
NM_001170629.2(CHD8):c.4424C>T (p.Thr1475Ile)
NM_001170629.2(CHD8):c.4429C>T (p.Arg1477Ter) rs1555314390
NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp) rs2139462537
NM_001170629.2(CHD8):c.4448G>C (p.Cys1483Ser)
NM_001170629.2(CHD8):c.4451G>A (p.Arg1484Gln) rs1555314383
NM_001170629.2(CHD8):c.4461C>T (p.Leu1487=)
NM_001170629.2(CHD8):c.4468_4469insA (p.Cys1490Ter) rs1555314378
NM_001170629.2(CHD8):c.4496A>C (p.Asn1499Thr)
NM_001170629.2(CHD8):c.4570+17_4570+18insTATCAACTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGC
NM_001170629.2(CHD8):c.4570+18A>T
NM_001170629.2(CHD8):c.4571-12C>T
NM_001170629.2(CHD8):c.4571-9C>G
NM_001170629.2(CHD8):c.4574dup (p.Ser1526fs) rs1887974151
NM_001170629.2(CHD8):c.4575A>G (p.Leu1525=)
NM_001170629.2(CHD8):c.4581C>T (p.Ile1527=) rs1566420316
NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His) rs192277407
NM_001170629.2(CHD8):c.4597C>T (p.Arg1533Cys) rs773611059
NM_001170629.2(CHD8):c.4605A>G (p.Gly1535=)
NM_001170629.2(CHD8):c.4611del (p.Lys1537_Val1538insTer) rs1555314317
NM_001170629.2(CHD8):c.4620A>G (p.Ser1540=)
NM_001170629.2(CHD8):c.4626C>T (p.Ser1542=)
NM_001170629.2(CHD8):c.4629T>C (p.Thr1543=)
NM_001170629.2(CHD8):c.463_466del (p.Ser155fs) rs1555318633
NM_001170629.2(CHD8):c.4650T>C (p.Asp1550=)
NM_001170629.2(CHD8):c.4656C>T (p.Ile1552=)
NM_001170629.2(CHD8):c.4658G>A (p.Arg1553Gln)
NM_001170629.2(CHD8):c.4665T>C (p.Tyr1555=)
NM_001170629.2(CHD8):c.466G>T (p.Ala156Ser)
NM_001170629.2(CHD8):c.4676C>G (p.Thr1559Ser)
NM_001170629.2(CHD8):c.4686A>G (p.Gln1562=)
NM_001170629.2(CHD8):c.4687G>A (p.Asp1563Asn)
NM_001170629.2(CHD8):c.4727+1del rs1594340060
NM_001170629.2(CHD8):c.4728-16C>T
NM_001170629.2(CHD8):c.4728-5T>C
NM_001170629.2(CHD8):c.4738C>T (p.Arg1580Trp)
NM_001170629.2(CHD8):c.4740G>A (p.Arg1580=)
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4751T>C (p.Leu1584Pro)
NM_001170629.2(CHD8):c.4762A>T (p.Arg1588Trp) rs1057519410
NM_001170629.2(CHD8):c.4780G>A (p.Asp1594Asn)
NM_001170629.2(CHD8):c.4782C>T (p.Asp1594=)
NM_001170629.2(CHD8):c.4785_4788del (p.Ala1596fs) rs1555314186
NM_001170629.2(CHD8):c.4788A>G (p.Ala1596=)
NM_001170629.2(CHD8):c.4797G>A (p.Val1599=)
NM_001170629.2(CHD8):c.4800del (p.Gly1602fs) rs1887960167
NM_001170629.2(CHD8):c.4807G>A (p.Ala1603Thr)
NM_001170629.2(CHD8):c.4808C>T (p.Ala1603Val)
NM_001170629.2(CHD8):c.4817+10T>C
NM_001170629.2(CHD8):c.4817+111A>G rs56229026
NM_001170629.2(CHD8):c.4817+15T>C
NM_001170629.2(CHD8):c.4817+2T>A rs1555314174
NM_001170629.2(CHD8):c.4818-13C>T
NM_001170629.2(CHD8):c.4818-18G>A
NM_001170629.2(CHD8):c.4818-18G>T
NM_001170629.2(CHD8):c.4818-1G>A rs2139460816
NM_001170629.2(CHD8):c.4818-1G>C
NM_001170629.2(CHD8):c.4818-9T>C
NM_001170629.2(CHD8):c.4840G>A (p.Val1614Ile)
NM_001170629.2(CHD8):c.4843G>C (p.Val1615Leu)
NM_001170629.2(CHD8):c.4853T>C (p.Leu1618Pro)
NM_001170629.2(CHD8):c.4867A>G (p.Thr1623Ala)
NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter) rs1555314122
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr) rs1887944313
NM_001170629.2(CHD8):c.4921+17A>G
NM_001170629.2(CHD8):c.4921+4C>T
NM_001170629.2(CHD8):c.4921+5G>T
NM_001170629.2(CHD8):c.4922-19A>G
NM_001170629.2(CHD8):c.4923C>T (p.Gly1641=)
NM_001170629.2(CHD8):c.4940C>T (p.Thr1647Ile) rs879255360
NM_001170629.2(CHD8):c.4941C>T (p.Thr1647=)
NM_001170629.2(CHD8):c.4949C>T (p.Ala1650Val)
NM_001170629.2(CHD8):c.4973A>C (p.Glu1658Ala)
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.4985G>A (p.Arg1662Gln)
NM_001170629.2(CHD8):c.498A>G (p.Pro166=)
NM_001170629.2(CHD8):c.5008G>C (p.Ala1670Pro) rs2139457056
NM_001170629.2(CHD8):c.5017C>T (p.Arg1673Ter)
NM_001170629.2(CHD8):c.5036C>G (p.Ser1679Cys)
NM_001170629.2(CHD8):c.5041A>G (p.Ile1681Val)
NM_001170629.2(CHD8):c.5045T>G (p.Val1682Gly)
NM_001170629.2(CHD8):c.5051+15T>G
NM_001170629.2(CHD8):c.5051+4A>G rs2139456918
NM_001170629.2(CHD8):c.5051+9T>G
NM_001170629.2(CHD8):c.5052-18G>A
NM_001170629.2(CHD8):c.5052-259G>A rs140691947
NM_001170629.2(CHD8):c.5053G>A (p.Val1685Ile)
NM_001170629.2(CHD8):c.5061del (p.Phe1687fs) rs2139452398
NM_001170629.2(CHD8):c.506C>T (p.Ser169Leu) rs2139539729
NM_001170629.2(CHD8):c.5083G>A (p.Glu1695Lys)
NM_001170629.2(CHD8):c.5097C>G (p.Leu1699=)
NM_001170629.2(CHD8):c.5127+15T>C
NM_001170629.2(CHD8):c.5127+1G>A rs794727436
NM_001170629.2(CHD8):c.5127G>C (p.Glu1709Asp)
NM_001170629.2(CHD8):c.5128-18G>A
NM_001170629.2(CHD8):c.5131_5133del (p.Asp1711del)
NM_001170629.2(CHD8):c.5140A>G (p.Met1714Val) rs989066537
NM_001170629.2(CHD8):c.5145G>A (p.Met1715Ile)
NM_001170629.2(CHD8):c.5146A>G (p.Met1716Val)
NM_001170629.2(CHD8):c.5147T>C (p.Met1716Thr)
NM_001170629.2(CHD8):c.5150A>G (p.Asp1717Gly) rs2139450989
NM_001170629.2(CHD8):c.5157G>T (p.Glu1719Asp)
NM_001170629.2(CHD8):c.5165T>G (p.Val1722Gly)
NM_001170629.2(CHD8):c.5175A>T (p.Gly1725=) rs1428138381
NM_001170629.2(CHD8):c.5176G>A (p.Asp1726Asn)
NM_001170629.2(CHD8):c.5179G>T (p.Glu1727Ter)
NM_001170629.2(CHD8):c.517G>A (p.Ala173Thr)
NM_001170629.2(CHD8):c.5182+20A>G
NM_001170629.2(CHD8):c.5183-16A>G
NM_001170629.2(CHD8):c.5187G>C (p.Gln1729His) rs1887719780
NM_001170629.2(CHD8):c.5190G>T (p.Val1730=)
NM_001170629.2(CHD8):c.5213T>C (p.Phe1738Ser)
NM_001170629.2(CHD8):c.5240_5243del (p.Ala1747fs)
NM_001170629.2(CHD8):c.5248C>T (p.Arg1750Trp)
NM_001170629.2(CHD8):c.5249G>A (p.Arg1750Gln)
NM_001170629.2(CHD8):c.5251C>T (p.Arg1751Cys)
NM_001170629.2(CHD8):c.5252G>A (p.Arg1751His)
NM_001170629.2(CHD8):c.5266dup (p.Tyr1756fs) rs886043086
NM_001170629.2(CHD8):c.5271G>C (p.Gln1757His)
NM_001170629.2(CHD8):c.5272C>T (p.Arg1758Cys)
NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)
NM_001170629.2(CHD8):c.5283G>A (p.Lys1761=)
NM_001170629.2(CHD8):c.5294T>C (p.Met1765Thr)
NM_001170629.2(CHD8):c.5300T>C (p.Ile1767Thr) rs903333944
NM_001170629.2(CHD8):c.5312A>T (p.Glu1771Val)
NM_001170629.2(CHD8):c.5314C>T (p.Arg1772Cys) rs1286064384
NM_001170629.2(CHD8):c.5315G>A (p.Arg1772His)
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.5327G>A (p.Arg1776Gln) rs1887714118
NM_001170629.2(CHD8):c.5336G>A (p.Arg1779His)
NM_001170629.2(CHD8):c.5338T>C (p.Cys1780Arg)
NM_001170629.2(CHD8):c.5339G>C (p.Cys1780Ser)
NM_001170629.2(CHD8):c.5348C>G (p.Ala1783Gly) rs751773278
NM_001170629.2(CHD8):c.5348C>T (p.Ala1783Val)
NM_001170629.2(CHD8):c.5365A>G (p.Ile1789Val) rs1555313583
NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)
NM_001170629.2(CHD8):c.5366T>C (p.Ile1789Thr) rs1887711941
NM_001170629.2(CHD8):c.536A>G (p.Gln179Arg)
NM_001170629.2(CHD8):c.5370A>G (p.Ala1790=)
NM_001170629.2(CHD8):c.5372G>T (p.Arg1791Leu)
NM_001170629.2(CHD8):c.5374C>T (p.Arg1792Trp)
NM_001170629.2(CHD8):c.5375G>A (p.Arg1792Gln)
NM_001170629.2(CHD8):c.5388A>G (p.Gln1796=)
NM_001170629.2(CHD8):c.5389C>T (p.Arg1797Ter) rs1887710442
NM_001170629.2(CHD8):c.5390+15G>T
NM_001170629.2(CHD8):c.5390+5A>G
NM_001170629.2(CHD8):c.5391-16A>G
NM_001170629.2(CHD8):c.5400G>A (p.Arg1800=)
NM_001170629.2(CHD8):c.5414A>G (p.Asp1805Gly) rs773818606
NM_001170629.2(CHD8):c.5435C>T (p.Thr1812Met)
NM_001170629.2(CHD8):c.5464A>G (p.Met1822Val)
NM_001170629.2(CHD8):c.5465T>C (p.Met1822Thr)
NM_001170629.2(CHD8):c.5472C>A (p.Phe1824Leu)
NM_001170629.2(CHD8):c.5475T>C (p.His1825=)
NM_001170629.2(CHD8):c.5489G>A (p.Arg1830His)
NM_001170629.2(CHD8):c.5491A>G (p.Thr1831Ala)
NM_001170629.2(CHD8):c.5496T>A (p.Phe1832Leu) rs1887680833
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001170629.2(CHD8):c.5501G>A (p.Arg1834Gln)
NM_001170629.2(CHD8):c.5503C>G (p.Leu1835Val) rs1161553064
NM_001170629.2(CHD8):c.5524A>G (p.Ser1842Gly)
NM_001170629.2(CHD8):c.5534_5543del (p.Lys1845fs) rs1594331875
NM_001170629.2(CHD8):c.5536T>C (p.Tyr1846His)
NM_001170629.2(CHD8):c.5547del (p.Phe1850fs)
NM_001170629.2(CHD8):c.5552T>G (p.Val1851Gly)
NM_001170629.2(CHD8):c.5561G>A (p.Cys1854Tyr) rs2139448400
NM_001170629.2(CHD8):c.5563C>T (p.Arg1855Cys)
NM_001170629.2(CHD8):c.5576G>A (p.Arg1859His)
NM_001170629.2(CHD8):c.5581C>G (p.Pro1861Ala)
NM_001170629.2(CHD8):c.5583C>T (p.Pro1861=)
NM_001170629.2(CHD8):c.5588C>T (p.Ala1863Val)
NM_001170629.2(CHD8):c.5591C>T (p.Ala1864Val)
NM_001170629.2(CHD8):c.5599+2T>G
NM_001170629.2(CHD8):c.5600-4G>A
NM_001170629.2(CHD8):c.5603C>A (p.Pro1868His)
NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.5617del (p.Leu1873fs)
NM_001170629.2(CHD8):c.5622C>A (p.Phe1874Leu)
NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs) rs2139448045
NM_001170629.2(CHD8):c.5653C>T (p.Arg1885Trp)
NM_001170629.2(CHD8):c.5654G>A (p.Arg1885Gln)
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.5659C>T (p.Leu1887Phe)
NM_001170629.2(CHD8):c.5666G>A (p.Arg1889His)
NM_001170629.2(CHD8):c.5666G>T (p.Arg1889Leu)
NM_001170629.2(CHD8):c.5681G>A (p.Arg1894Gln)
NM_001170629.2(CHD8):c.5684G>A (p.Arg1895His)
NM_001170629.2(CHD8):c.5690G>A (p.Arg1897Gln)
NM_001170629.2(CHD8):c.5711C>T (p.Pro1904Leu) rs750353323
NM_001170629.2(CHD8):c.5712C>A (p.Pro1904=) rs373139827
NM_001170629.2(CHD8):c.5712C>G (p.Pro1904=)
NM_001170629.2(CHD8):c.5713C>T (p.Leu1905Phe)
NM_001170629.2(CHD8):c.5715T>G (p.Leu1905=)
NM_001170629.2(CHD8):c.5720A>G (p.Glu1907Gly)
NM_001170629.2(CHD8):c.5736del (p.Leu1912fs)
NM_001170629.2(CHD8):c.5744del (p.Pro1915fs) rs2139447795
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser) rs1887663294
NM_001170629.2(CHD8):c.5753C>T (p.Pro1918Leu)
NM_001170629.2(CHD8):c.5755G>C (p.Glu1919Gln)
NM_001170629.2(CHD8):c.576A>G (p.Ala192=)
NM_001170629.2(CHD8):c.5782C>T (p.Arg1928Trp)
NM_001170629.2(CHD8):c.5815C>T (p.Arg1939Cys)
NM_001170629.2(CHD8):c.5818C>T (p.His1940Tyr)
NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)
NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)
NM_001170629.2(CHD8):c.5876C>T (p.Ala1959Val)
NM_001170629.2(CHD8):c.5892T>C (p.Tyr1964=)
NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)
NM_001170629.2(CHD8):c.5901C>A (p.Asn1967Lys)
NM_001170629.2(CHD8):c.5901C>G (p.Asn1967Lys)
NM_001170629.2(CHD8):c.5910A>G (p.Ala1970=)
NM_001170629.2(CHD8):c.5917C>G (p.Pro1973Ala)
NM_001170629.2(CHD8):c.5936G>A (p.Arg1979His)
NM_001170629.2(CHD8):c.5944A>G (p.Thr1982Ala)
NM_001170629.2(CHD8):c.5947_5951dup (p.Leu1985fs) rs2139447449
NM_001170629.2(CHD8):c.5956C>G (p.His1986Asp)
NM_001170629.2(CHD8):c.5966A>G (p.Tyr1989Cys) rs1887653474
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
NM_001170629.2(CHD8):c.5974C>T (p.Arg1992Cys)
NM_001170629.2(CHD8):c.5975G>A (p.Arg1992His)
NM_001170629.2(CHD8):c.5993C>G (p.Pro1998Arg)
NM_001170629.2(CHD8):c.5998C>T (p.Arg2000Cys)
NM_001170629.2(CHD8):c.5999G>A (p.Arg2000His)
NM_001170629.2(CHD8):c.6002C>T (p.Pro2001Leu)
NM_001170629.2(CHD8):c.6002del (p.Pro2001fs) rs2139447345
NM_001170629.2(CHD8):c.6008C>G (p.Ala2003Gly) rs886043373
NM_001170629.2(CHD8):c.6010C>T (p.Pro2004Ser)
NM_001170629.2(CHD8):c.6028G>A (p.Glu2010Lys)
NM_001170629.2(CHD8):c.6037G>A (p.Ala2013Thr)
NM_001170629.2(CHD8):c.6046G>A (p.Val2016Ile) rs1887649973
NM_001170629.2(CHD8):c.6051C>T (p.Pro2017=)
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
NM_001170629.2(CHD8):c.6062G>C (p.Ser2021Thr)
NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)
NM_001170629.2(CHD8):c.6081G>A (p.Glu2027=)
NM_001170629.2(CHD8):c.6084C>T (p.His2028=)
NM_001170629.2(CHD8):c.6093G>A (p.Val2031=)
NM_001170629.2(CHD8):c.6099G>A (p.Arg2033=)
NM_001170629.2(CHD8):c.6103C>T (p.Arg2035Ter) rs1131691627
NM_001170629.2(CHD8):c.6104G>A (p.Arg2035Gln)
NM_001170629.2(CHD8):c.6106C>T (p.Pro2036Ser)
NM_001170629.2(CHD8):c.6107C>G (p.Pro2036Arg)
NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)
NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)
NM_001170629.2(CHD8):c.6149C>G (p.Thr2050Ser) rs2139447069
NM_001170629.2(CHD8):c.6160G>A (p.Val2054Ile)
NM_001170629.2(CHD8):c.6167G>A (p.Arg2056Gln)
NM_001170629.2(CHD8):c.6167G>C (p.Arg2056Pro)
NM_001170629.2(CHD8):c.6168G>A (p.Arg2056=)
NM_001170629.2(CHD8):c.6169A>C (p.Ser2057Arg)
NM_001170629.2(CHD8):c.6190G>A (p.Glu2064Lys) rs779756082
NM_001170629.2(CHD8):c.620C>G (p.Thr207Ser)
NM_001170629.2(CHD8):c.6220G>A (p.Asp2074Asn)
NM_001170629.2(CHD8):c.6222C>T (p.Asp2074=)
NM_001170629.2(CHD8):c.6240A>G (p.Pro2080=)
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del) rs150254629
NM_001170629.2(CHD8):c.6261C>T (p.Ser2087=)
NM_001170629.2(CHD8):c.6265TCCAGC[2] (p.Ser2093_Ser2094del) rs749933003
NM_001170629.2(CHD8):c.6269G>A (p.Ser2090Asn)
NM_001170629.2(CHD8):c.6289G>C (p.Glu2097Gln)
NM_001170629.2(CHD8):c.628C>A (p.Pro210Thr)
NM_001170629.2(CHD8):c.6295G>A (p.Glu2099Lys) rs1555313219
NM_001170629.2(CHD8):c.6307_6310del (p.Glu2103fs) rs1887639311
NM_001170629.2(CHD8):c.6311A>C (p.Glu2104Ala) rs2139446702
NM_001170629.2(CHD8):c.6315G>A (p.Lys2105=)
NM_001170629.2(CHD8):c.6318A>G (p.Leu2106=) rs1566412548
NM_001170629.2(CHD8):c.6319+16A>T
NM_001170629.2(CHD8):c.6319+4A>G
NM_001170629.2(CHD8):c.6320-4C>A
NM_001170629.2(CHD8):c.6332G>A (p.Arg2111His)
NM_001170629.2(CHD8):c.6344_6345del (p.Leu2114_Tyr2115insTer) rs1594329885
NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter) rs556977377
NM_001170629.2(CHD8):c.6353A>C (p.Glu2118Ala)
NM_001170629.2(CHD8):c.6355_6356del (p.Leu2120fs) rs1887627866
NM_001170629.2(CHD8):c.6358C>T (p.Leu2120Phe)
NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)
NM_001170629.2(CHD8):c.6398A>T (p.Glu2133Val)
NM_001170629.2(CHD8):c.639A>C (p.Pro213=) rs2139539459
NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)
NM_001170629.2(CHD8):c.6404G>A (p.Gly2135Glu)
NM_001170629.2(CHD8):c.6412A>G (p.Met2138Val)
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
NM_001170629.2(CHD8):c.6463C>T (p.Pro2155Ser) rs2139445985
NM_001170629.2(CHD8):c.6466A>G (p.Lys2156Glu) rs1555313139
NM_001170629.2(CHD8):c.6467A>G (p.Lys2156Arg)
NM_001170629.2(CHD8):c.6468+117dup rs10646956
NM_001170629.2(CHD8):c.6468+132dup rs1555313109
NM_001170629.2(CHD8):c.6468+4A>G
NM_001170629.2(CHD8):c.6468+7_6468+10del
NM_001170629.2(CHD8):c.6469-21TTTC[2] rs753480258
NM_001170629.2(CHD8):c.6469-4T>G
NM_001170629.2(CHD8):c.646_663dup (p.Asn221_Thr222insSerIleValSerGlyAsn)
NM_001170629.2(CHD8):c.6470A>G (p.Asp2157Gly)
NM_001170629.2(CHD8):c.6472C>T (p.Arg2158Cys)
NM_001170629.2(CHD8):c.648C>T (p.Ser216=)
NM_001170629.2(CHD8):c.6496C>A (p.Leu2166Ile)
NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe) rs773908554
NM_001170629.2(CHD8):c.6498C>T (p.Leu2166=)
NM_001170629.2(CHD8):c.649A>C (p.Ile217Leu) rs771079174
NM_001170629.2(CHD8):c.6513A>G (p.Val2171=)
NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter) rs781575717
NM_001170629.2(CHD8):c.6525G>T (p.Lys2175Asn)
NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
NM_001170629.2(CHD8):c.6531T>A (p.Pro2177=)
NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)
NM_001170629.2(CHD8):c.6538C>T (p.Arg2180Cys)
NM_001170629.2(CHD8):c.6557T>C (p.Val2186Ala)
NM_001170629.2(CHD8):c.6560C>T (p.Thr2187Ile)
NM_001170629.2(CHD8):c.6563G>A (p.Gly2188Glu) rs2139444897
NM_001170629.2(CHD8):c.6565G>A (p.Gly2189Arg)
NM_001170629.2(CHD8):c.656C>G (p.Ser219Cys) rs2139539399
NM_001170629.2(CHD8):c.6575G>A (p.Gly2192Glu)
NM_001170629.2(CHD8):c.6586C>T (p.His2196Tyr)
NM_001170629.2(CHD8):c.6594A>G (p.Leu2198=)
NM_001170629.2(CHD8):c.6595G>A (p.Asp2199Asn) rs1887600303
NM_001170629.2(CHD8):c.6596A>G (p.Asp2199Gly)
NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)
NM_001170629.2(CHD8):c.661A>T (p.Asn221Tyr) rs2139539395
NM_001170629.2(CHD8):c.6625G>A (p.Gly2209Ser)
NM_001170629.2(CHD8):c.6640C>T (p.Pro2214Ser)
NM_001170629.2(CHD8):c.6647C>T (p.Pro2216Leu) rs1887597818
NM_001170629.2(CHD8):c.6649C>T (p.Arg2217Ter) rs1555313048
NM_001170629.2(CHD8):c.664A>G (p.Thr222Ala)
NM_001170629.2(CHD8):c.6658A>G (p.Ser2220Gly)
NM_001170629.2(CHD8):c.6670A>G (p.Met2224Val)
NM_001170629.2(CHD8):c.669G>C (p.Val223=) rs1889540194
NM_001170629.2(CHD8):c.6717C>T (p.Phe2239=)
NM_001170629.2(CHD8):c.6719C>G (p.Thr2240Ser) rs2139444575
NM_001170629.2(CHD8):c.6722A>G (p.Lys2241Arg)
NM_001170629.2(CHD8):c.6727C>T (p.Arg2243Cys)
NM_001170629.2(CHD8):c.6728G>A (p.Arg2243His)
NM_001170629.2(CHD8):c.672G>A (p.Leu224=)
NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter) rs1555313027
NM_001170629.2(CHD8):c.6731G>A (p.Arg2244Gln)
NM_001170629.2(CHD8):c.6733G>C (p.Gly2245Arg)
NM_001170629.2(CHD8):c.6742G>A (p.Glu2248Lys)
NM_001170629.2(CHD8):c.6759T>G (p.Val2253=)
NM_001170629.2(CHD8):c.6771+11C>T
NM_001170629.2(CHD8):c.6771+8C>T
NM_001170629.2(CHD8):c.680A>G (p.Lys227Arg)
NM_001170629.2(CHD8):c.7068T>C (p.Tyr2356=)
NM_001170629.2(CHD8):c.7078C>T (p.Arg2360Cys)
NM_001170629.2(CHD8):c.7088A>G (p.Gln2363Arg)
NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter) rs752374375
NM_001170629.2(CHD8):c.7096C>T (p.Gln2366Ter)
NM_001170629.2(CHD8):c.70A>G (p.Ser24Gly)
NM_001170629.2(CHD8):c.710G>A (p.Arg237His)
NM_001170629.2(CHD8):c.7110A>T (p.Lys2370Asn)
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001170629.2(CHD8):c.7113TAA[1] (p.Asn2372del) rs1395958904
NM_001170629.2(CHD8):c.7158A>C (p.Thr2386=)
NM_001170629.2(CHD8):c.7177A>G (p.Lys2393Glu)
NM_001170629.2(CHD8):c.717C>T (p.Val239=)
NM_001170629.2(CHD8):c.7182+163_7182+165dup rs34364818
NM_001170629.2(CHD8):c.7182+163dup rs34364818
NM_001170629.2(CHD8):c.7182+177_7182+178del rs34364818
NM_001170629.2(CHD8):c.7182+1G>A
NM_001170629.2(CHD8):c.7183-10C>T
NM_001170629.2(CHD8):c.7183-13T>G
NM_001170629.2(CHD8):c.7183-6T>C
NM_001170629.2(CHD8):c.7191C>A (p.His2397Gln)
NM_001170629.2(CHD8):c.7194T>C (p.Thr2398=)
NM_001170629.2(CHD8):c.7199C>T (p.Thr2400Met)
NM_001170629.2(CHD8):c.7200G>A (p.Thr2400=)
NM_001170629.2(CHD8):c.7210C>G (p.Arg2404Gly)
NM_001170629.2(CHD8):c.7213G>C (p.Val2405Leu)
NM_001170629.2(CHD8):c.721C>T (p.Pro241Ser) rs1249562130
NM_001170629.2(CHD8):c.7230T>A (p.Ile2410=)
NM_001170629.2(CHD8):c.7253G>T (p.Arg2418Leu)
NM_001170629.2(CHD8):c.7255G>A (p.Ala2419Thr)
NM_001170629.2(CHD8):c.7256C>A (p.Ala2419Asp)
NM_001170629.2(CHD8):c.7259G>A (p.Arg2420His)
NM_001170629.2(CHD8):c.7263G>A (p.Arg2421=)
NM_001170629.2(CHD8):c.7267C>A (p.Arg2423=)
NM_001170629.2(CHD8):c.726C>A (p.Ser242Arg)
NM_001170629.2(CHD8):c.726C>T (p.Ser242=)
NM_001170629.2(CHD8):c.7279T>C (p.Ser2427Pro)
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001170629.2(CHD8):c.7280C>T (p.Ser2427Phe) rs2139428600
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
NM_001170629.2(CHD8):c.7291G>A (p.Ala2431Thr)
NM_001170629.2(CHD8):c.7296C>T (p.Leu2432=)
NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)
NM_001170629.2(CHD8):c.731C>T (p.Pro244Leu)
NM_001170629.2(CHD8):c.7324T>A (p.Ser2442Thr)
NM_001170629.2(CHD8):c.7329G>A (p.Leu2443=)
NM_001170629.2(CHD8):c.7335C>T (p.Asn2445=)
NM_001170629.2(CHD8):c.7337C>T (p.Thr2446Met)
NM_001170629.2(CHD8):c.7345C>T (p.His2449Tyr)
NM_001170629.2(CHD8):c.7352G>A (p.Ser2451Asn)
NM_001170629.2(CHD8):c.7357G>A (p.Gly2453Ser)
NM_001170629.2(CHD8):c.7357G>T (p.Gly2453Cys)
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=) rs766944646
NM_001170629.2(CHD8):c.7399T>A (p.Ser2467Thr) rs1887208398
NM_001170629.2(CHD8):c.7400C>A (p.Ser2467Tyr) rs1887208262
NM_001170629.2(CHD8):c.7405T>G (p.Ser2469Ala)
NM_001170629.2(CHD8):c.7406C>G (p.Ser2469Cys)
NM_001170629.2(CHD8):c.7411C>T (p.Pro2471Ser) rs2139428284
NM_001170629.2(CHD8):c.7426G>T (p.Val2476Leu)
NM_001170629.2(CHD8):c.7436G>A (p.Gly2479Asp)
NM_001170629.2(CHD8):c.7445C>T (p.Ser2482Leu)
NM_001170629.2(CHD8):c.7450C>G (p.Pro2484Ala) rs2139428218
NM_001170629.2(CHD8):c.7452T>A (p.Pro2484=) rs2139428215
NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del) rs774490485
NM_001170629.2(CHD8):c.7484A>C (p.His2495Pro)
NM_001170629.2(CHD8):c.7488_7517del (p.His2500_Pro2509del) rs1348736609
NM_001170629.2(CHD8):c.7496_7504del (p.Pro2499_Pro2501del) rs771302334
NM_001170629.2(CHD8):c.7497C>T (p.Pro2499=)
NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro) rs745917082
NM_001170629.2(CHD8):c.7499A>G (p.His2500Arg)
NM_001170629.2(CHD8):c.7506CCATCACCA[3] (p.His2508_Pro2509insHisHisHis)
NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)
NM_001170629.2(CHD8):c.7521C>G (p.His2507Gln)
NM_001170629.2(CHD8):c.7522C>T (p.His2508Tyr) rs1887199443
NM_001170629.2(CHD8):c.7524T>A (p.His2508Gln)
NM_001170629.2(CHD8):c.7533G>A (p.Leu2511=)
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
NM_001170629.2(CHD8):c.7536A>G (p.Arg2512=)
NM_001170629.2(CHD8):c.7549C>T (p.Pro2517Ser)
NM_001170629.2(CHD8):c.7559C>G (p.Pro2520Arg)
NM_001170629.2(CHD8):c.7563G>T (p.Val2521=) rs1314375037
NM_001170629.2(CHD8):c.7569C>T (p.Thr2523=)
NM_001170629.2(CHD8):c.7576G>A (p.Gly2526Ser)
NM_001170629.2(CHD8):c.7583C>T (p.Thr2528Ile)
NM_001170629.2(CHD8):c.7588C>G (p.Arg2530Gly)
NM_001170629.2(CHD8):c.7589G>T (p.Arg2530Leu)
NM_001170629.2(CHD8):c.7590G>A (p.Arg2530=)
NM_001170629.2(CHD8):c.7600C>A (p.Leu2534Met)
NM_001170629.2(CHD8):c.7602G>A (p.Leu2534=)
NM_001170629.2(CHD8):c.7605A>G (p.Gln2535=)
NM_001170629.2(CHD8):c.7607C>T (p.Pro2536Leu) rs1064795453
NM_001170629.2(CHD8):c.7620_7631dup (p.Asp2543_Glu2544insAspAspGluAsp)
NM_001170629.2(CHD8):c.7621G>A (p.Asp2541Asn)
NM_001170629.2(CHD8):c.7632A>G (p.Glu2544=)
NM_001170629.2(CHD8):c.7632AGA[1] (p.Glu2545del)
NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)
NM_001170629.2(CHD8):c.7650A>T (p.Leu2550Phe)
NM_001170629.2(CHD8):c.7661A>T (p.Tyr2554Phe)
NM_001170629.2(CHD8):c.7662T>C (p.Tyr2554=)
NM_001170629.2(CHD8):c.7676G>A (p.Arg2559Lys)
NM_001170629.2(CHD8):c.7708C>A (p.Pro2570Thr)
NM_001170629.2(CHD8):c.7720G>A (p.Asp2574Asn) rs2139427520
NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)
NM_001170629.2(CHD8):c.7733A>G (p.Asp2578Gly)
NM_001170629.2(CHD8):c.7744dup (p.Ter2582LeuextTer?)
NM_001170629.2(CHD8):c.794C>G (p.Thr265Arg)
NM_001170629.2(CHD8):c.799C>T (p.Pro267Ser) rs2139539035
NM_001170629.2(CHD8):c.836C>T (p.Pro279Leu)
NM_001170629.2(CHD8):c.844-148G>T rs373148160
NM_001170629.2(CHD8):c.844-1G>C
NM_001170629.2(CHD8):c.844-3T>C
NM_001170629.2(CHD8):c.844-7A>G
NM_001170629.2(CHD8):c.844-8_844-4del
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
NM_001170629.2(CHD8):c.851C>T (p.Ser284Leu)
NM_001170629.2(CHD8):c.856C>T (p.Arg286Cys)
NM_001170629.2(CHD8):c.85A>G (p.Thr29Ala)
NM_001170629.2(CHD8):c.881C>A (p.Pro294Gln)
NM_001170629.2(CHD8):c.890G>T (p.Gly297Val)
NM_001170629.2(CHD8):c.895C>G (p.Pro299Ala)
NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)
NM_001170629.2(CHD8):c.90_92dup (p.Gln30_Asp31insGlu)
NM_001170629.2(CHD8):c.913G>C (p.Val305Leu)
NM_001170629.2(CHD8):c.941T>C (p.Ile314Thr)
NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)
NM_001170629.2(CHD8):c.959A>G (p.Gln320Arg)
NM_001170629.2(CHD8):c.961del (p.Leu321fs)
NM_001170629.2(CHD8):c.992A>G (p.Gln331Arg) rs1566444686
NM_020920.4(CHD8):c.5428TCCAGC[4] (p.Ser1814_Ser1815dup) rs749933003
Single allele

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