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)
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NM_001170629.2(CHD8):c.895C>G (p.Pro299Ala)
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NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)
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NM_001170629.2(CHD8):c.90_92dup (p.Gln30_Asp31insGlu)
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NM_001170629.2(CHD8):c.913G>C (p.Val305Leu)
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NM_001170629.2(CHD8):c.941T>C (p.Ile314Thr)
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NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)
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NM_001170629.2(CHD8):c.959A>G (p.Gln320Arg)
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NM_001170629.2(CHD8):c.961del (p.Leu321fs)
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NM_001170629.2(CHD8):c.992A>G (p.Gln331Arg)
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rs1566444686
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NM_020920.4(CHD8):c.5428TCCAGC[4] (p.Ser1814_Ser1815dup)
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rs749933003
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Single allele
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