NM_017780.4(CHD7):c.2442+93A>G
|
rs10448027
|
0.84035
|
NM_017780.4(CHD7):c.2238+39G>A
|
rs4540437
|
0.83608
|
NM_017780.4(CHD7):c.3779-217G>A
|
rs6471905
|
0.82328
|
NM_017780.4(CHD7):c.2614-45A>G
|
rs6471902
|
0.79408
|
NM_017780.4(CHD7):c.4186-225A>G
|
rs11986059
|
0.77691
|
NM_017780.4(CHD7):c.4533+46A>G
|
rs7844902
|
0.77651
|
NM_017780.4(CHD7):c.5210+286G>A
|
rs10957162
|
0.77594
|
NM_017780.4(CHD7):c.2376+43_2376+48dup
|
rs5891777
|
0.76905
|
NM_017780.4(CHD7):c.3989+51C>A
|
rs7005873
|
0.76795
|
NM_017780.4(CHD7):c.1665+34G>A
|
rs7836586
|
0.76770
|
NM_017780.4(CHD7):c.2613+213T>G
|
rs4737565
|
0.73414
|
NM_017780.4(CHD7):c.5665+198A>G
|
rs4342642
|
0.68138
|
NM_017780.4(CHD7):c.6936+308G>C
|
rs7839701
|
0.67922
|
NM_017780.4(CHD7):c.5666-189G>T
|
rs3763591
|
0.62204
|
NM_017780.4(CHD7):c.7609-178C>T
|
rs10094382
|
0.45245
|
NM_017780.4(CHD7):c.8076+163_8076+166dup
|
rs75748074
|
0.45126
|
NM_017780.4(CHD7):c.2698-54A>G
|
rs4509369
|
0.36787
|
NM_017780.4(CHD7):c.2499-268C>G
|
rs368460945
|
0.35386
|
NM_017780.4(CHD7):c.2376+147C>A
|
rs3890803
|
0.33902
|
NM_017780.4(CHD7):c.2239-332A>T
|
rs10957160
|
0.25775
|
NM_017780.4(CHD7):c.4185+90G>C
|
rs67670110
|
0.19417
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
NM_017780.4(CHD7):c.2499-258C>G
|
rs200026248
|
0.14632
|
NM_017780.4(CHD7):c.7609-227C>T
|
rs35951521
|
0.13220
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
NM_017780.4(CHD7):c.3378+208A>G
|
rs28539276
|
0.07467
|
NM_017780.4(CHD7):c.2958-106C>T
|
rs28539174
|
0.07458
|
NM_017780.4(CHD7):c.5535-68T>C
|
rs73254571
|
0.06823
|
NM_017780.4(CHD7):c.3523-35C>G
|
rs41272442
|
0.06176
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_017780.4(CHD7):c.-174-212C>A
|
rs17825594
|
0.04073
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
NM_017780.4(CHD7):c.2442+38A>T
|
rs41272438
|
0.02567
|
NM_017780.4(CHD7):c.-174-222T>C
|
rs16926450
|
0.02516
|
NM_017780.4(CHD7):c.4534-294C>T
|
rs62526528
|
0.02421
|
NM_017780.4(CHD7):c.8076+157_8076+158insTCTTACATC
|
rs71559310
|
0.02082
|
NM_017780.4(CHD7):c.4850+102C>T
|
rs75650362
|
0.01973
|
NM_017780.4(CHD7):c.2499-256C>G
|
rs867185114
|
0.01949
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
NM_017780.4(CHD7):c.2097-199G>A
|
rs77947624
|
0.01910
|
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)
|
rs16926499
|
0.01905
|
NM_017780.4(CHD7):c.8076+147C>A
|
rs542520736
|
0.01838
|
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)
|
rs61729627
|
0.01533
|
NM_017780.4(CHD7):c.7608+68G>A
|
rs115002476
|
0.01533
|
NM_017780.4(CHD7):c.3990-81G>T
|
rs41304212
|
0.01532
|
NM_017780.4(CHD7):c.7609-57C>A
|
rs77809919
|
0.01477
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_017780.4(CHD7):c.2498+70T>A
|
rs74898457
|
0.01350
|
NM_017780.4(CHD7):c.3523-67A>G
|
rs141939815
|
0.01313
|
NM_017780.4(CHD7):c.5405-299T>C
|
rs16926501
|
0.01302
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_017780.4(CHD7):c.4354-104A>G
|
rs76518681
|
0.01078
|
NM_017780.4(CHD7):c.5211-251C>A
|
rs76858382
|
0.00929
|
NM_017780.4(CHD7):c.6776-237G>C
|
rs117049687
|
0.00911
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_017780.4(CHD7):c.3523-336T>C
|
rs79727252
|
0.00831
|
NM_017780.4(CHD7):c.2239-311C>A
|
rs114962047
|
0.00824
|
NM_017780.4(CHD7):c.2097-311G>A
|
rs140049261
|
0.00816
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_017780.4(CHD7):c.1665+130T>C
|
rs151044908
|
0.00596
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_017780.4(CHD7):c.3778+257G>A
|
rs115115541
|
0.00533
|
NM_017780.4(CHD7):c.2698-183T>G
|
rs190121386
|
0.00531
|
NM_017780.4(CHD7):c.6775+142G>A
|
rs59181511
|
0.00526
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_017780.4(CHD7):c.2443-307G>C
|
rs116301551
|
0.00501
|
NM_017780.4(CHD7):c.5666-158T>C
|
rs79853029
|
0.00483
|
NM_017780.4(CHD7):c.6775+128T>G
|
rs146636024
|
0.00483
|
NM_017780.4(CHD7):c.3379-33A>G
|
rs45461501
|
0.00473
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_017780.4(CHD7):c.1665+269G>C
|
rs73251122
|
0.00468
|
NM_017780.4(CHD7):c.5405-254T>C
|
rs143616373
|
0.00456
|
NM_017780.4(CHD7):c.2698-163T>C
|
rs140419337
|
0.00437
|
NM_017780.4(CHD7):c.2239-109G>A
|
rs569349271
|
0.00419
|
NM_017780.4(CHD7):c.5210+129G>C
|
rs191527057
|
0.00411
|
NM_017780.4(CHD7):c.2613+217G>T
|
rs369430731
|
0.00372
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_017780.4(CHD7):c.2376+57C>A
|
rs184802461
|
0.00333
|
NM_017780.4(CHD7):c.5210+115A>G
|
rs143898806
|
0.00299
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518
|
0.00255
|
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814
|
0.00239
|
NM_017780.4(CHD7):c.5895-78G>A
|
rs145798437
|
0.00229
|
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186
|
0.00229
|
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453
|
0.00217
|
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=)
|
rs201132710
|
0.00187
|
NM_017780.4(CHD7):c.2614-161A>C
|
rs11782077
|
0.00186
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)
|
rs61746542
|
0.00167
|
NM_017780.4(CHD7):c.4644+36C>T
|
rs71640287
|
0.00161
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
NM_017780.4(CHD7):c.5051-25A>G
|
rs185141793
|
0.00153
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
NM_017780.4(CHD7):c.-230G>C
|
rs886063030
|
0.00124
|
NM_017780.4(CHD7):c.*1116C>G
|
rs45504193
|
0.00117
|
NM_017780.4(CHD7):c.*1143A>G
|
rs45573835
|
0.00117
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_017780.4(CHD7):c.6989G>C (p.Gly2330Ala)
|
rs77704609
|
0.00094
|
NM_017780.4(CHD7):c.6990C>T (p.Gly2330=)
|
rs559382275
|
0.00094
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_017780.4(CHD7):c.2835+24A>T
|
rs201381395
|
0.00081
|
NM_017780.4(CHD7):c.5404+41C>T
|
rs190298202
|
0.00078
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
NM_017780.4(CHD7):c.*251T>C
|
rs529121143
|
0.00068
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_017780.4(CHD7):c.5300+8C>T
|
rs151322460
|
0.00055
|
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)
|
rs374877439
|
0.00051
|
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)
|
rs202020722
|
0.00048
|
NM_017780.4(CHD7):c.3202-42T>C
|
rs375663839
|
0.00047
|
NM_017780.4(CHD7):c.360C>T (p.Gly120=)
|
rs375438732
|
0.00043
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)
|
rs201653177
|
0.00033
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln)
|
rs185505138
|
0.00030
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_017780.4(CHD7):c.444G>A (p.Arg148=)
|
rs376455384
|
0.00028
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser)
|
rs201470035
|
0.00024
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319
|
0.00023
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00021
|
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=)
|
rs371898908
|
0.00019
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg)
|
rs187751757
|
0.00019
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)
|
rs370972259
|
0.00017
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00016
|
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp)
|
rs369542138
|
0.00016
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
NM_017780.4(CHD7):c.843A>G (p.Gln281=)
|
rs764411605
|
0.00016
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)
|
rs375204972
|
0.00015
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
NM_017780.4(CHD7):c.240G>A (p.Met80Ile)
|
rs199675125
|
0.00013
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_017780.4(CHD7):c.4851-31C>T
|
rs149348445
|
0.00013
|
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=)
|
rs201046385
|
0.00013
|
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=)
|
rs375800664
|
0.00013
|
NM_017780.4(CHD7):c.1203A>G (p.Ala401=)
|
rs147960212
|
0.00012
|
NM_017780.4(CHD7):c.1245G>A (p.Pro415=)
|
rs745900311
|
0.00012
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=)
|
rs534427466
|
0.00012
|
NM_017780.4(CHD7):c.2109T>G (p.Pro703=)
|
rs192950146
|
0.00011
|
NM_017780.4(CHD7):c.2273G>A (p.Arg758His)
|
rs202208393
|
0.00011
|
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=)
|
rs370471177
|
0.00011
|
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=)
|
rs368093874
|
0.00011
|
NM_017780.4(CHD7):c.4850+33T>C
|
rs369422783
|
0.00011
|
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser)
|
rs368224943
|
0.00011
|
NM_017780.4(CHD7):c.303G>A (p.Pro101=)
|
rs373868449
|
0.00010
|
NM_017780.4(CHD7):c.3201+21T>G
|
rs575169079
|
0.00010
|
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=)
|
rs372755547
|
0.00010
|
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg)
|
rs200907656
|
0.00010
|
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
|
rs753953205
|
0.00009
|
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=)
|
rs760166848
|
0.00009
|
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu)
|
rs369545523
|
0.00009
|
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=)
|
rs559053565
|
0.00009
|
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=)
|
rs148517660
|
0.00009
|
NM_017780.4(CHD7):c.1051G>A (p.Val351Ile)
|
rs199953550
|
0.00008
|
NM_017780.4(CHD7):c.127A>G (p.Ile43Val)
|
rs201542180
|
0.00008
|
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr)
|
rs368086966
|
0.00008
|
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala)
|
rs200277422
|
0.00008
|
NM_017780.4(CHD7):c.2613+5G>A
|
rs202143667
|
0.00008
|
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)
|
rs768184220
|
0.00008
|
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=)
|
rs371633293
|
0.00008
|
NM_017780.4(CHD7):c.3778+17C>T
|
rs111863846
|
0.00008
|
NM_017780.4(CHD7):c.3989+34A>G
|
rs189935708
|
0.00008
|
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=)
|
rs373869399
|
0.00008
|
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)
|
rs764496155
|
0.00008
|
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu)
|
rs3750308
|
0.00008
|
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=)
|
rs200747690
|
0.00008
|
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=)
|
rs372889781
|
0.00008
|
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser)
|
rs147164392
|
0.00007
|
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)
|
rs748644473
|
0.00007
|
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=)
|
rs766542090
|
0.00007
|
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=)
|
rs767368987
|
0.00007
|
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val)
|
rs755028719
|
0.00007
|
NM_017780.4(CHD7):c.1410A>G (p.Glu470=)
|
rs368648424
|
0.00006
|
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr)
|
rs749781761
|
0.00006
|
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys)
|
rs377330239
|
0.00006
|
NM_017780.4(CHD7):c.2946T>C (p.Asn982=)
|
rs752803020
|
0.00006
|
NM_017780.4(CHD7):c.3523-12G>A
|
rs373865383
|
0.00006
|
NM_017780.4(CHD7):c.381T>C (p.Pro127=)
|
rs373676882
|
0.00006
|
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=)
|
rs368919638
|
0.00006
|
NM_017780.4(CHD7):c.4534-20C>T
|
rs727503866
|
0.00006
|
NM_017780.4(CHD7):c.4850+6T>A
|
rs745527754
|
0.00006
|
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val)
|
rs61737194
|
0.00006
|
NM_017780.4(CHD7):c.510G>A (p.Pro170=)
|
rs748841915
|
0.00006
|
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln)
|
rs371988345
|
0.00006
|
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys)
|
rs904822604
|
0.00006
|
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg)
|
rs777303307
|
0.00006
|
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=)
|
rs749381782
|
0.00006
|
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=)
|
rs767067759
|
0.00006
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr)
|
rs537091457
|
0.00006
|
NM_017780.4(CHD7):c.1104C>T (p.His368=)
|
rs763250461
|
0.00005
|
NM_017780.4(CHD7):c.1562C>T (p.Pro521Leu)
|
rs373211059
|
0.00005
|
NM_017780.4(CHD7):c.2675G>A (p.Arg892His)
|
rs200188105
|
0.00005
|
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln)
|
rs767390470
|
0.00005
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
NM_017780.4(CHD7):c.4416C>A (p.Leu1472=)
|
rs546733576
|
0.00005
|
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn)
|
rs370599133
|
0.00005
|
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=)
|
rs376993840
|
0.00005
|
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys)
|
rs777753993
|
0.00005
|
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg)
|
rs765315726
|
0.00005
|
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=)
|
rs200792215
|
0.00005
|
NM_017780.4(CHD7):c.1029C>T (p.Ser343=)
|
rs570815501
|
0.00004
|
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile)
|
rs199919181
|
0.00004
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe)
|
rs373112189
|
0.00004
|
NM_017780.4(CHD7):c.2472G>A (p.Glu824=)
|
rs746946074
|
0.00004
|
NM_017780.4(CHD7):c.2498+12G>T
|
rs557099951
|
0.00004
|
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln)
|
rs768481542
|
0.00004
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)
|
rs183761594
|
0.00004
|
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser)
|
rs750258756
|
0.00004
|
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe)
|
rs369608927
|
0.00004
|
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys)
|
rs745837768
|
0.00004
|
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=)
|
rs777652245
|
0.00004
|
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=)
|
rs191081055
|
0.00004
|
NM_017780.4(CHD7):c.5196G>A (p.Lys1732=)
|
rs755703816
|
0.00004
|
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu)
|
rs767279224
|
0.00004
|
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg)
|
rs1481262806
|
0.00004
|
NM_017780.4(CHD7):c.5405-8C>T
|
rs755505152
|
0.00004
|
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)
|
rs368609862
|
0.00004
|
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg)
|
rs753347128
|
0.00004
|
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=)
|
rs376806146
|
0.00004
|
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=)
|
rs764844969
|
0.00004
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu)
|
rs369543203
|
0.00004
|
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe)
|
rs561398606
|
0.00004
|
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr)
|
rs766776212
|
0.00004
|
NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met)
|
rs758409717
|
0.00004
|
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys)
|
rs727503867
|
0.00004
|
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys)
|
rs918223900
|
0.00004
|
NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn)
|
rs772379262
|
0.00004
|
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)
|
rs761410781
|
0.00004
|
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp)
|
rs398124324
|
0.00004
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)
|
rs780161032
|
0.00004
|
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met)
|
rs761409446
|
0.00004
|
NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly)
|
rs774242976
|
0.00004
|
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=)
|
rs199565939
|
0.00004
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=)
|
rs368038649
|
0.00004
|
NM_017780.4(CHD7):c.1644G>A (p.Pro548=)
|
rs748842029
|
0.00003
|
NM_017780.4(CHD7):c.2097-20C>T
|
rs569155117
|
0.00003
|
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser)
|
rs373873996
|
0.00003
|
NM_017780.4(CHD7):c.2614-7G>T
|
rs762399977
|
0.00003
|
NM_017780.4(CHD7):c.272G>A (p.Ser91Asn)
|
rs794727294
|
0.00003
|
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp)
|
rs773773546
|
0.00003
|
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)
|
rs779024959
|
0.00003
|
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu)
|
rs200565677
|
0.00003
|
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=)
|
rs1278636503
|
0.00003
|
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)
|
rs200441929
|
0.00003
|
NM_017780.4(CHD7):c.6468C>T (p.Val2156=)
|
rs777858802
|
0.00003
|
NM_017780.4(CHD7):c.6480T>G (p.Ala2160=)
|
rs746037662
|
0.00003
|
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys)
|
rs750047137
|
0.00003
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
NM_017780.4(CHD7):c.7107C>T (p.Val2369=)
|
rs773674773
|
0.00003
|
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
|
rs199966549
|
0.00003
|
NM_017780.4(CHD7):c.7261A>G (p.Met2421Val)
|
rs1064794834
|
0.00003
|
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=)
|
rs751931671
|
0.00003
|
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr)
|
rs370231679
|
0.00003
|
NM_017780.4(CHD7):c.1053A>G (p.Val351=)
|
rs199880694
|
0.00002
|
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys)
|
rs767819417
|
0.00002
|
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)
|
rs1441258013
|
0.00002
|
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln)
|
rs773685788
|
0.00002
|
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys)
|
rs587783435
|
0.00002
|
NM_017780.4(CHD7):c.288C>T (p.Asn96=)
|
rs754953018
|
0.00002
|
NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser)
|
rs886044146
|
0.00002
|
NM_017780.4(CHD7):c.3051C>A (p.Gly1017=)
|
rs1804096179
|
0.00002
|
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val)
|
rs1271767085
|
0.00002
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
NM_017780.4(CHD7):c.4185+46C>T
|
rs758212430
|
0.00002
|
NM_017780.4(CHD7):c.4692C>G (p.Leu1564=)
|
rs777176819
|
0.00002
|
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu)
|
rs371385411
|
0.00002
|
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu)
|
rs61742851
|
0.00002
|
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn)
|
rs769563309
|
0.00002
|
NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val)
|
rs753913368
|
0.00002
|
NM_017780.4(CHD7):c.5467A>G (p.Met1823Val)
|
rs769931428
|
0.00002
|
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp)
|
rs886063038
|
0.00002
|
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val)
|
rs369433978
|
0.00002
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
NM_017780.4(CHD7):c.7009C>T (p.Arg2337Cys)
|
rs765610436
|
0.00002
|
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=)
|
rs572098274
|
0.00002
|
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr)
|
rs727503870
|
0.00002
|
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu)
|
rs371930390
|
0.00002
|
NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser)
|
rs1012221437
|
0.00002
|
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu)
|
rs925177812
|
0.00002
|
NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala)
|
rs769008751
|
0.00002
|
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr)
|
rs1242867481
|
0.00002
|
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu)
|
rs201793562
|
0.00002
|
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala)
|
rs878893652
|
0.00001
|
NM_017780.4(CHD7):c.1105C>G (p.Pro369Ala)
|
rs766747354
|
0.00001
|
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser)
|
rs1554581580
|
0.00001
|
NM_017780.4(CHD7):c.1264A>G (p.Met422Val)
|
rs1064795809
|
0.00001
|
NM_017780.4(CHD7):c.1327A>G (p.Met443Val)
|
rs559364802
|
0.00001
|
NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser)
|
rs1208556547
|
0.00001
|
NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala)
|
rs911422083
|
0.00001
|
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp)
|
rs547298242
|
0.00001
|
NM_017780.4(CHD7):c.156A>G (p.Pro52=)
|
rs398124315
|
0.00001
|
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu)
|
rs1064794416
|
0.00001
|
NM_017780.4(CHD7):c.2238+6A>G
|
rs886042205
|
0.00001
|
NM_017780.4(CHD7):c.2613+4C>T
|
rs779615403
|
0.00001
|
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp)
|
rs772260091
|
0.00001
|
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln)
|
rs1384228127
|
0.00001
|
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln)
|
rs1014640333
|
0.00001
|
NM_017780.4(CHD7):c.2839C>A (p.Arg947=)
|
rs200220845
|
0.00001
|
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile)
|
rs1345463010
|
0.00001
|
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val)
|
rs375374626
|
0.00001
|
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val)
|
rs1415116812
|
0.00001
|
NM_017780.4(CHD7):c.3202-7C>G
|
rs376893919
|
0.00001
|
NM_017780.4(CHD7):c.323C>A (p.Pro108His)
|
rs369818702
|
0.00001
|
NM_017780.4(CHD7):c.33C>T (p.Gly11=)
|
rs560030949
|
0.00001
|
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys)
|
rs201769233
|
0.00001
|
NM_017780.4(CHD7):c.3591C>G (p.Asn1197Lys)
|
rs750556683
|
0.00001
|
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=)
|
rs748869169
|
0.00001
|
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile)
|
rs794727150
|
0.00001
|
NM_017780.4(CHD7):c.3994C>T (p.Pro1332Ser)
|
rs1804764382
|
0.00001
|
NM_017780.4(CHD7):c.4302G>A (p.Leu1434=)
|
rs760088130
|
0.00001
|
NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys)
|
rs1009126876
|
0.00001
|
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His)
|
rs766632082
|
0.00001
|
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu)
|
rs267606724
|
0.00001
|
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala)
|
rs780597592
|
0.00001
|
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln)
|
rs755632561
|
0.00001
|
NM_017780.4(CHD7):c.5442G>A (p.Ala1814=)
|
rs558567843
|
0.00001
|
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser)
|
rs1563657431
|
0.00001
|
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln)
|
rs372644599
|
0.00001
|
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys)
|
rs766110936
|
0.00001
|
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His)
|
rs767326758
|
0.00001
|
NM_017780.4(CHD7):c.577A>G (p.Met193Val)
|
rs542672517
|
0.00001
|
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln)
|
rs1024797402
|
0.00001
|
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln)
|
rs753723769
|
0.00001
|
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln)
|
rs374040699
|
0.00001
|
NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly)
|
rs1805484724
|
0.00001
|
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=)
|
rs1448374029
|
0.00001
|
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln)
|
rs372077201
|
0.00001
|
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys)
|
rs192260844
|
0.00001
|
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His)
|
rs1197494895
|
0.00001
|
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln)
|
rs773114816
|
0.00001
|
NM_017780.4(CHD7):c.6377A>T (p.Asp2126Val)
|
rs1064794182
|
0.00001
|
NM_017780.4(CHD7):c.6396T>C (p.Ala2132=)
|
rs763720460
|
0.00001
|
NM_017780.4(CHD7):c.6437T>C (p.Leu2146Pro)
|
rs794727554
|
0.00001
|
NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn)
|
rs1064794854
|
0.00001
|
NM_017780.4(CHD7):c.6747T>A (p.Asp2249Glu)
|
rs751843304
|
0.00001
|
NM_017780.4(CHD7):c.6775+6G>T
|
rs773804340
|
0.00001
|
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val)
|
rs1047690374
|
0.00001
|
NM_017780.4(CHD7):c.6914T>A (p.Phe2305Tyr)
|
rs750003961
|
0.00001
|
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His)
|
rs765943226
|
0.00001
|
NM_017780.4(CHD7):c.705G>A (p.Leu235=)
|
rs918029767
|
0.00001
|
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met)
|
rs1287878235
|
0.00001
|
NM_017780.4(CHD7):c.7257T>C (p.Asn2419=)
|
rs886042294
|
0.00001
|
NM_017780.4(CHD7):c.733A>G (p.Met245Val)
|
rs768507639
|
0.00001
|
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg)
|
rs759887905
|
0.00001
|
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro)
|
rs769178123
|
0.00001
|
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser)
|
rs547209998
|
0.00001
|
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln)
|
rs1064794649
|
0.00001
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
0.00001
|
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=)
|
rs772124801
|
0.00001
|
NM_017780.4(CHD7):c.7830+15G>A
|
rs776953479
|
0.00001
|
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu)
|
rs1468230389
|
0.00001
|
NM_017780.4(CHD7):c.794A>G (p.His265Arg)
|
rs779427012
|
0.00001
|
NM_017780.4(CHD7):c.7972A>G (p.Met2658Val)
|
rs1056534038
|
0.00001
|
NM_017780.4(CHD7):c.8077-12C>G
|
rs558533630
|
0.00001
|
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp)
|
rs1418386669
|
0.00001
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser)
|
rs769500488
|
0.00001
|
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg)
|
rs760775347
|
0.00001
|
NM_017780.4(CHD7):c.8556C>T (p.Asp2852=)
|
rs794727604
|
0.00001
|
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys)
|
rs774843956
|
0.00001
|
NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp)
|
rs970020036
|
0.00001
|
NM_017780.4(CHD7):c.8623G>C (p.Gly2875Arg)
|
rs768688793
|
0.00001
|
NM_017780.4(CHD7):c.883C>T (p.Arg295Trp)
|
rs750978197
|
0.00001
|
NM_017780.4(CHD7):c.884G>A (p.Arg295Gln)
|
rs569799707
|
0.00001
|
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)
|
rs374004489
|
0.00001
|
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu)
|
rs768014298
|
0.00001
|
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg)
|
rs763572916
|
0.00001
|
NM_017780.4(CHD7):c.993T>C (p.Asn331=)
|
rs892600312
|
0.00001
|
GRCh37/hg19 8q12.2(chr8:61656947-61670975)x1
|
|
|
GRCh37/hg19 8q12.2(chr8:61667280-61671071)x3
|
|
|
GRCh37/hg19 8q12.2(chr8:61667427-61670975)x4
|
|
|
GRCh37/hg19 8q12.2(chr8:61668289-61670975)x4
|
|
|
GRCh37/hg19 8q12.2(chr8:61704817-61732518)x3
|
|
|
GRCh37/hg19 8q12.2(chr8:61704817-61734962)x3
|
|
|
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
|
|
|
NM_017780.4(CHD7):c.*127del
|
rs11322994
|
|
NM_017780.4(CHD7):c.-174-1G>A
|
|
|
NM_017780.4(CHD7):c.-174-308G>A
|
rs74350073
|
|
NM_017780.4(CHD7):c.-175G>A
|
|
|
NM_017780.4(CHD7):c.1061del (p.Pro354fs)
|
rs1554581501
|
|
NM_017780.4(CHD7):c.1077A>G (p.Gln359=)
|
rs1809095852
|
|
NM_017780.4(CHD7):c.107C>G (p.Pro36Arg)
|
rs2150577446
|
|
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)
|
rs727503860
|
|
NM_017780.4(CHD7):c.109A>G (p.Met37Val)
|
rs1416709395
|
|
NM_017780.4(CHD7):c.110T>C (p.Met37Thr)
|
|
|
NM_017780.4(CHD7):c.1122C>T (p.Asn374=)
|
|
|
NM_017780.4(CHD7):c.1123C>T (p.Gln375Ter)
|
rs1057520734
|
|
NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu)
|
rs757050240
|
|
NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter)
|
rs554737227
|
|
NM_017780.4(CHD7):c.1191A>C (p.Ser397=)
|
rs1586250706
|
|
NM_017780.4(CHD7):c.1224_1234del (p.Pro409fs)
|
rs794727295
|
|
NM_017780.4(CHD7):c.1271_1273del (p.Val424del)
|
rs1466152038
|
|
NM_017780.4(CHD7):c.1281T>A (p.Tyr427Ter)
|
rs373942842
|
|
NM_017780.4(CHD7):c.1309C>T (p.His437Tyr)
|
|
|
NM_017780.4(CHD7):c.1311C>G (p.His437Gln)
|
|
|
NM_017780.4(CHD7):c.1366C>T (p.Gln456Ter)
|
|
|
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter)
|
rs727503861
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
NM_017780.4(CHD7):c.1417G>A (p.Gly473Arg)
|
|
|
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu)
|
rs773039925
|
|
NM_017780.4(CHD7):c.1428G>T (p.Arg476Ser)
|
rs766339850
|
|
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro)
|
rs1313748646
|
|
NM_017780.4(CHD7):c.1465C>T (p.Gln489Ter)
|
rs794727298
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg)
|
rs1465792260
|
|
NM_017780.4(CHD7):c.1514A>G (p.Gln505Arg)
|
rs1001211309
|
|
NM_017780.4(CHD7):c.151C>T (p.Gln51Ter)
|
rs886039523
|
|
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala)
|
rs748635676
|
|
NM_017780.4(CHD7):c.1535C>T (p.Pro512Leu)
|
rs2150581214
|
|
NM_017780.4(CHD7):c.1554G>T (p.Gln518His)
|
rs369284507
|
|
NM_017780.4(CHD7):c.1602C>A (p.His534Gln)
|
rs1386056055
|
|
NM_017780.4(CHD7):c.1633dup (p.Gln545fs)
|
rs2150581463
|
|
NM_017780.4(CHD7):c.1646A>G (p.Gln549Arg)
|
rs2150581508
|
|
NM_017780.4(CHD7):c.1654C>T (p.Pro552Ser)
|
|
|
NM_017780.4(CHD7):c.207del (p.Phe69fs)
|
rs1064793909
|
|
NM_017780.4(CHD7):c.2097-19G>A
|
rs559713378
|
|
NM_017780.4(CHD7):c.2097-1G>A
|
rs1060503182
|
|
NM_017780.4(CHD7):c.2097-2A>G
|
rs2150697457
|
|
NM_017780.4(CHD7):c.2107C>A (p.Pro703Thr)
|
|
|
NM_017780.4(CHD7):c.2114C>G (p.Ser705Ter)
|
rs1554591598
|
|
NM_017780.4(CHD7):c.2134A>G (p.Lys712Glu)
|
|
|
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile)
|
rs1563606900
|
|
NM_017780.4(CHD7):c.2171del (p.Asn724fs)
|
rs1586341013
|
|
NM_017780.4(CHD7):c.2178_2179insCTAA (p.Asp728fs)
|
rs1554591634
|
|
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del)
|
rs748363597
|
|
NM_017780.4(CHD7):c.2212G>C (p.Glu738Gln)
|
rs375850262
|
|
NM_017780.4(CHD7):c.2238+1G>A
|
rs1811957737
|
|
NM_017780.4(CHD7):c.2239-297C>G
|
rs112239241
|
|
NM_017780.4(CHD7):c.22A>T (p.Ser8Cys)
|
|
|
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del)
|
rs761153051
|
|
NM_017780.4(CHD7):c.2349del (p.Ser784fs)
|
rs1586350990
|
|
NM_017780.4(CHD7):c.2352C>G (p.Ser784=)
|
|
|
NM_017780.4(CHD7):c.236A>G (p.Lys79Arg)
|
rs1064796792
|
|
NM_017780.4(CHD7):c.2377-2A>G
|
|
|
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550
|
|
NM_017780.4(CHD7):c.2383_2384del (p.Ser794_Val795insTer)
|
rs1064793432
|
|
NM_017780.4(CHD7):c.2389dup (p.Ala797fs)
|
rs1586352770
|
|
NM_017780.4(CHD7):c.238A>G (p.Met80Val)
|
|
|
NM_017780.4(CHD7):c.2413dup (p.Ile805fs)
|
rs1554593023
|
|
NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys)
|
rs2150711196
|
|
NM_017780.4(CHD7):c.2442+1G>T
|
rs1085307582
|
|
NM_017780.4(CHD7):c.2466A>T (p.Glu822Asp)
|
rs2150723930
|
|
NM_017780.4(CHD7):c.2498+70dup
|
rs530966773
|
|
NM_017780.4(CHD7):c.2499-269_2499-268insGT
|
rs1563624933
|
|
NM_017780.4(CHD7):c.2499-270C>G
|
rs7823623
|
|
NM_017780.4(CHD7):c.2499-271_2499-270insGTCTGT
|
rs1554596106
|
|
NM_017780.4(CHD7):c.2499-291TGTC[6]
|
rs749460189
|
|
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)
|
rs886040982
|
|
NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg)
|
rs2150738931
|
|
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)
|
rs1563625351
|
|
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg)
|
|
|
NM_017780.4(CHD7):c.2609dup (p.Glu871fs)
|
rs1803756402
|
|
NM_017780.4(CHD7):c.2613+93T>C
|
rs1007714458
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
NM_017780.4(CHD7):c.262A>G (p.Arg88Gly)
|
rs1015190633
|
|
NM_017780.4(CHD7):c.2644G>A (p.Val882Met)
|
|
|
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys)
|
rs768961973
|
|
NM_017780.4(CHD7):c.2678G>T (p.Ser893Ile)
|
|
|
NM_017780.4(CHD7):c.2697+172_2697+174del
|
rs142017079
|
|
NM_017780.4(CHD7):c.2698-146AT[3]
|
rs139974846
|
|
NM_017780.4(CHD7):c.2698-245TA[4]
|
rs138906255
|
|
NM_017780.4(CHD7):c.2708A>G (p.His903Arg)
|
|
|
NM_017780.4(CHD7):c.2713C>G (p.Leu905Val)
|
rs2150748752
|
|
NM_017780.4(CHD7):c.2726_2728dup (p.Cys909dup)
|
rs1554597381
|
|
NM_017780.4(CHD7):c.2740G>T (p.Glu914Ter)
|
rs1586389368
|
|
NM_017780.4(CHD7):c.2745C>T (p.Asp915=)
|
rs1586389389
|
|
NM_017780.4(CHD7):c.2779G>A (p.Ala927Thr)
|
|
|
NM_017780.4(CHD7):c.2783A>G (p.Lys928Arg)
|
|
|
NM_017780.4(CHD7):c.2801A>C (p.Lys934Thr)
|
rs767217637
|
|
NM_017780.4(CHD7):c.2808G>A (p.Met936Ile)
|
|
|
NM_017780.4(CHD7):c.2836-2A>T
|
rs878855031
|
|
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)
|
rs200220845
|
|
NM_017780.4(CHD7):c.2846del (p.Pro949fs)
|
rs1586389979
|
|
NM_017780.4(CHD7):c.2848del (p.Ala950fs)
|
rs886043750
|
|
NM_017780.4(CHD7):c.2850T>C (p.Ala950=)
|
rs1586389999
|
|
NM_017780.4(CHD7):c.2852A>T (p.Asp951Val)
|
rs768456277
|
|
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs)
|
rs587783436
|
|
NM_017780.4(CHD7):c.2933G>A (p.Trp978Ter)
|
rs727503863
|
|
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)
|
rs886040983
|
|
NM_017780.4(CHD7):c.295G>A (p.Ala99Thr)
|
rs779024959
|
|
NM_017780.4(CHD7):c.2968A>G (p.Ile990Val)
|
rs774245379
|
|
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=)
|
|
|
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser)
|
rs1057521077
|
|
NM_017780.4(CHD7):c.3077C>A (p.Ser1026Tyr)
|
|
|
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)
|
rs121434338
|
|
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser)
|
rs886041167
|
|
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter)
|
rs1554597716
|
|
NM_017780.4(CHD7):c.310C>T (p.Gln104Ter)
|
rs1131691733
|
|
NM_017780.4(CHD7):c.311A>G (p.Gln104Arg)
|
|
|
NM_017780.4(CHD7):c.3130del (p.Val1044fs)
|
rs1131691892
|
|
NM_017780.4(CHD7):c.3157C>T (p.Arg1053Cys)
|
rs1064794432
|
|
NM_017780.4(CHD7):c.3158G>A (p.Arg1053His)
|
|
|
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln)
|
rs750203389
|
|
NM_017780.4(CHD7):c.3166A>T (p.Ile1056Phe)
|
|
|
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg)
|
rs771941657
|
|
NM_017780.4(CHD7):c.3200A>C (p.Gln1067Pro)
|
|
|
NM_017780.4(CHD7):c.3202-1G>A
|
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)
|
rs1804153455
|
|
NM_017780.4(CHD7):c.3226_3227del (p.Lys1076fs)
|
rs1064796926
|
|
NM_017780.4(CHD7):c.3232C>T (p.His1078Tyr)
|
rs1064795519
|
|
NM_017780.4(CHD7):c.3299G>C (p.Arg1100Pro)
|
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr)
|
rs1554598013
|
|
NM_017780.4(CHD7):c.3314A>G (p.Asp1105Gly)
|
|
|
NM_017780.4(CHD7):c.3319G>A (p.Ala1107Thr)
|
|
|
NM_017780.4(CHD7):c.3322C>T (p.His1108Tyr)
|
rs1064796196
|
|
NM_017780.4(CHD7):c.3323A>G (p.His1108Arg)
|
rs2150752559
|
|
NM_017780.4(CHD7):c.3357_3360del (p.Glu1119fs)
|
rs1586393639
|
|
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)
|
rs1804159058
|
|
NM_017780.4(CHD7):c.3377dup (p.Leu1126fs)
|
rs2150752695
|
|
NM_017780.4(CHD7):c.3378+5G>A
|
|
|
NM_017780.4(CHD7):c.3378+5G>T
|
rs1554598029
|
|
NM_017780.4(CHD7):c.3379-2A>G
|
|
|
NM_017780.4(CHD7):c.3383del (p.His1128fs)
|
rs2150761067
|
|
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)
|
rs1064793083
|
|
NM_017780.4(CHD7):c.3403A>G (p.Thr1135Ala)
|
|
|
NM_017780.4(CHD7):c.342C>A (p.Pro114=)
|
|
|
NM_017780.4(CHD7):c.3433T>C (p.Phe1145Leu)
|
rs1131691908
|
|
NM_017780.4(CHD7):c.343del (p.His115fs)
|
rs2150577964
|
|
NM_017780.4(CHD7):c.3522+1del
|
rs1064796255
|
|
NM_017780.4(CHD7):c.3523G>A (p.Val1175Met)
|
rs2150764579
|
|
NM_017780.4(CHD7):c.3535C>A (p.Gln1179Lys)
|
|
|
NM_017780.4(CHD7):c.3565C>T (p.Arg1189Cys)
|
|
|
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs)
|
rs886040987
|
|
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp)
|
rs886040988
|
|
NM_017780.4(CHD7):c.3641A>G (p.Gln1214Arg)
|
|
|
NM_017780.4(CHD7):c.364C>T (p.Gln122Ter)
|
rs1554581127
|
|
NM_017780.4(CHD7):c.3650A>G (p.Tyr1217Cys)
|
rs2150764796
|
|
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter)
|
rs372174845
|
|
NM_017780.4(CHD7):c.3716C>T (p.Pro1239Leu)
|
rs2150765007
|
|
NM_017780.4(CHD7):c.3746G>A (p.Arg1249Gln)
|
rs369298165
|
|
NM_017780.4(CHD7):c.3761A>C (p.His1254Pro)
|
rs2150765100
|
|
NM_017780.4(CHD7):c.3778G>A (p.Gly1260Ser)
|
rs1586405837
|
|
NM_017780.4(CHD7):c.3807del (p.Phe1269fs)
|
rs1064793463
|
|
NM_017780.4(CHD7):c.380del (p.Pro127fs)
|
rs886043945
|
|
NM_017780.4(CHD7):c.3859C>T (p.Gln1287Ter)
|
rs1554600522
|
|
NM_017780.4(CHD7):c.3868G>C (p.Gly1290Arg)
|
rs398124318
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
NM_017780.4(CHD7):c.3905_3906dup (p.Lys1303Ter)
|
rs1554600530
|
|
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys)
|
rs373301291
|
|
NM_017780.4(CHD7):c.3964del (p.Leu1322fs)
|
rs879255410
|
|
NM_017780.4(CHD7):c.3967G>A (p.Glu1323Lys)
|
rs886041168
|
|
NM_017780.4(CHD7):c.3990-248T>A
|
rs147847471
|
|
NM_017780.4(CHD7):c.3990-59del
|
rs112949179
|
|
NM_017780.4(CHD7):c.3990-59dup
|
rs112949179
|
|
NM_017780.4(CHD7):c.3998A>G (p.Tyr1333Cys)
|
rs1563644012
|
|
NM_017780.4(CHD7):c.3999T>G (p.Tyr1333Ter)
|
rs2150776997
|
|
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)
|
rs1563644066
|
|
NM_017780.4(CHD7):c.4026C>T (p.Gly1342=)
|
rs1057524839
|
|
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys)
|
rs1563644113
|
|
NM_017780.4(CHD7):c.4034G>T (p.Arg1345Leu)
|
rs1804766911
|
|
NM_017780.4(CHD7):c.4055T>C (p.Phe1352Ser)
|
|
|
NM_017780.4(CHD7):c.4056C>A (p.Phe1352Leu)
|
rs2150777183
|
|
NM_017780.4(CHD7):c.4072G>A (p.Asp1358Asn)
|
|
|
NM_017780.4(CHD7):c.4088T>A (p.Leu1363His)
|
rs1064796242
|
|
NM_017780.4(CHD7):c.4112T>G (p.Leu1371Ter)
|
rs1554600633
|
|
NM_017780.4(CHD7):c.4115_4116delinsTT (p.Gly1372Val)
|
rs2150777287
|
|
NM_017780.4(CHD7):c.4120_4121dup (p.Asn1374fs)
|
rs2150777291
|
|
NM_017780.4(CHD7):c.4133C>T (p.Ala1378Val)
|
|
|
NM_017780.4(CHD7):c.4136A>C (p.Asp1379Ala)
|
rs1085307453
|
|
NM_017780.4(CHD7):c.4136A>T (p.Asp1379Val)
|
|
|
NM_017780.4(CHD7):c.4137T>C (p.Asp1379=)
|
rs794727194
|
|
NM_017780.4(CHD7):c.4189C>T (p.Gln1397Ter)
|
rs886041169
|
|
NM_017780.4(CHD7):c.4199_4201del (p.Cys1400_His1401delinsTyr)
|
|
|
NM_017780.4(CHD7):c.4215G>C (p.Gln1405His)
|
|
|
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg)
|
rs770166812
|
|
NM_017780.4(CHD7):c.4247C>T (p.Thr1416Ile)
|
|
|
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
|
|
|
NM_017780.4(CHD7):c.4291A>G (p.Lys1431Glu)
|
rs1554600817
|
|
NM_017780.4(CHD7):c.4319A>G (p.Gln1440Arg)
|
|
|
NM_017780.4(CHD7):c.4336G>T (p.Glu1446Ter)
|
|
|
NM_017780.4(CHD7):c.434G>A (p.Trp145Ter)
|
rs886041163
|
|
NM_017780.4(CHD7):c.4353+1G>A
|
rs1804804514
|
|
NM_017780.4(CHD7):c.4353+3A>G
|
rs587783441
|
|
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs)
|
rs398124319
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys)
|
rs2150779357
|
|
NM_017780.4(CHD7):c.4407T>G (p.Tyr1469Ter)
|
rs1064793962
|
|
NM_017780.4(CHD7):c.4420G>A (p.Asp1474Asn)
|
|
|
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
|
|
|
NM_017780.4(CHD7):c.4469T>C (p.Ile1490Thr)
|
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
NM_017780.4(CHD7):c.4482A>C (p.Arg1494=)
|
rs1586420262
|
|
NM_017780.4(CHD7):c.4507G>T (p.Glu1503Ter)
|
rs1064794248
|
|
NM_017780.4(CHD7):c.451C>G (p.Gln151Glu)
|
|
|
NM_017780.4(CHD7):c.451C>T (p.Gln151Ter)
|
|
|
NM_017780.4(CHD7):c.4533+5G>C
|
|
|
NM_017780.4(CHD7):c.4533G>A (p.Lys1511=)
|
rs1064793084
|
|
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys)
|
rs1554601592
|
|
NM_017780.4(CHD7):c.4547C>T (p.Ala1516Val)
|
|
|
NM_017780.4(CHD7):c.4561A>G (p.Thr1521Ala)
|
rs1804981976
|
|
NM_017780.4(CHD7):c.4565A>G (p.Asp1522Gly)
|
rs2150786072
|
|
NM_017780.4(CHD7):c.4574T>C (p.Leu1525Ser)
|
rs2150786094
|
|
NM_017780.4(CHD7):c.4577A>G (p.Asp1526Gly)
|
|
|
NM_017780.4(CHD7):c.4593G>A (p.Trp1531Ter)
|
rs2150786107
|
|
NM_017780.4(CHD7):c.4594C>G (p.Gln1532Glu)
|
rs2150786112
|
|
NM_017780.4(CHD7):c.4609A>T (p.Lys1537Ter)
|
rs1057524501
|
|
NM_017780.4(CHD7):c.4644+1G>A
|
|
|
NM_017780.4(CHD7):c.4666C>G (p.Pro1556Ala)
|
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.470G>A (p.Arg157Gln)
|
|
|
NM_017780.4(CHD7):c.472G>A (p.Ala158Thr)
|
|
|
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu)
|
rs1434566381
|
|
NM_017780.4(CHD7):c.475C>G (p.Pro159Ala)
|
rs1064794560
|
|
NM_017780.4(CHD7):c.4764T>G (p.Cys1588Trp)
|
|
|
NM_017780.4(CHD7):c.4784A>G (p.Gln1595Arg)
|
|
|
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly)
|
rs1057521078
|
|
NM_017780.4(CHD7):c.4793C>G (p.Ser1598Ter)
|
rs1563649180
|
|
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter)
|
rs267606724
|
|
NM_017780.4(CHD7):c.4816_4818delinsGGC (p.Cys1606Gly)
|
rs2150786931
|
|
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=)
|
rs1164615393
|
|
NM_017780.4(CHD7):c.4844T>A (p.Val1615Asp)
|
|
|
NM_017780.4(CHD7):c.4850+1G>A
|
|
|
NM_017780.4(CHD7):c.4850+4A>G
|
|
|
NM_017780.4(CHD7):c.4850+76A>G
|
rs79240930
|
|
NM_017780.4(CHD7):c.4851-7T>G
|
rs1057524753
|
|
NM_017780.4(CHD7):c.4858C>T (p.Arg1620Trp)
|
rs986373484
|
|
NM_017780.4(CHD7):c.4882G>A (p.Gly1628Arg)
|
rs944955791
|
|
NM_017780.4(CHD7):c.4889A>G (p.Tyr1630Cys)
|
|
|
NM_017780.4(CHD7):c.4961del (p.Tyr1654fs)
|
rs886041729
|
|
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln)
|
rs1805142705
|
|
NM_017780.4(CHD7):c.499C>A (p.Pro167Thr)
|
rs1563559947
|
|
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter)
|
rs777652245
|
|
NM_017780.4(CHD7):c.5044del (p.His1682fs)
|
rs1554602459
|
|
NM_017780.4(CHD7):c.504G>C (p.Gln168His)
|
rs2150578451
|
|
NM_017780.4(CHD7):c.5050+1G>A
|
rs1554602466
|
|
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser)
|
rs1554602465
|
|
NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala)
|
rs2150793920
|
|
NM_017780.4(CHD7):c.5070A>C (p.Pro1690=)
|
rs2150793937
|
|
NM_017780.4(CHD7):c.507_515dup (p.Pro172_Ala173insProGlnPro)
|
|
|
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
|
|
|
NM_017780.4(CHD7):c.5103G>C (p.Gln1701His)
|
rs2150793981
|
|
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile)
|
rs1236442873
|
|
NM_017780.4(CHD7):c.5109A>G (p.Thr1703=)
|
|
|
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter)
|
rs1563560018
|
|
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg)
|
rs2150578491
|
|
NM_017780.4(CHD7):c.5177_5190delinsT (p.Ser1726fs)
|
rs1057518576
|
|
NM_017780.4(CHD7):c.5181C>G (p.Tyr1727Ter)
|
rs398124320
|
|
NM_017780.4(CHD7):c.5187A>G (p.Lys1729=)
|
rs1586432446
|
|
NM_017780.4(CHD7):c.5210+57dup
|
rs143263433
|
|
NM_017780.4(CHD7):c.5210+5G>C
|
|
|
NM_017780.4(CHD7):c.5211-18C>T
|
rs749368541
|
|
NM_017780.4(CHD7):c.5250A>C (p.Gln1750His)
|
|
|
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
|
|
|
NM_017780.4(CHD7):c.5308G>T (p.Asp1770Tyr)
|
|
|
NM_017780.4(CHD7):c.5315G>A (p.Trp1772Ter)
|
rs1057517713
|
|
NM_017780.4(CHD7):c.5345del (p.Pro1782fs)
|
rs2150801705
|
|
NM_017780.4(CHD7):c.5356T>C (p.Trp1786Arg)
|
rs2150801741
|
|
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter)
|
rs1805338299
|
|
NM_017780.4(CHD7):c.535G>A (p.Ala179Thr)
|
rs794727296
|
|
NM_017780.4(CHD7):c.535dup (p.Ala179fs)
|
rs2150578588
|
|
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro)
|
rs1064795943
|
|
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter)
|
rs1563560149
|
|
NM_017780.4(CHD7):c.5399A>C (p.Lys1800Thr)
|
rs1481262806
|
|
NM_017780.4(CHD7):c.5405-176C>G
|
rs77454387
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5426T>C (p.Met1809Thr)
|
rs1554603550
|
|
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)
|
rs1554603552
|
|
NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu)
|
rs1586440484
|
|
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)
|
rs587783446
|
|
NM_017780.4(CHD7):c.546C>G (p.His182Gln)
|
|
|
NM_017780.4(CHD7):c.547C>T (p.Pro183Ser)
|
rs2150578600
|
|
NM_017780.4(CHD7):c.550C>T (p.Gln184Ter)
|
rs886039526
|
|
NM_017780.4(CHD7):c.5521G>C (p.Asp1841His)
|
|
|
NM_017780.4(CHD7):c.5575C>T (p.Pro1859Ser)
|
rs1182352756
|
|
NM_017780.4(CHD7):c.5597A>G (p.Asp1866Gly)
|
rs2150805872
|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly)
|
rs749861487
|
|
NM_017780.4(CHD7):c.5665+267A>G
|
rs114428319
|
|
NM_017780.4(CHD7):c.5666-308dup
|
rs200802182
|
|
NM_017780.4(CHD7):c.5693T>G (p.Leu1898Ter)
|
|
|
NM_017780.4(CHD7):c.5701C>T (p.Leu1901Phe)
|
|
|
NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn)
|
|
|
NM_017780.4(CHD7):c.5747T>C (p.Leu1916Pro)
|
rs2150807717
|
|
NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His)
|
|
|
NM_017780.4(CHD7):c.5771A>G (p.Tyr1924Cys)
|
rs769144470
|
|
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp)
|
rs773867024
|
|
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter)
|
rs757160222
|
|
NM_017780.4(CHD7):c.5849C>T (p.Ala1950Val)
|
|
|
NM_017780.4(CHD7):c.5875A>T (p.Ile1959Leu)
|
|
|
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
|
|
|
NM_017780.4(CHD7):c.5894+102C>G
|
rs118161607
|
|
NM_017780.4(CHD7):c.5895-1G>A
|
|
|
NM_017780.4(CHD7):c.5895-1G>C
|
rs398124322
|
|
NM_017780.4(CHD7):c.5902AGA[1] (p.Arg1969del)
|
|
|
NM_017780.4(CHD7):c.5960del (p.Pro1987fs)
|
rs1554603963
|
|
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)
|
rs1554603970
|
|
NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter)
|
rs1563659730
|
|
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=)
|
rs768313777
|
|
NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr)
|
rs1064794548
|
|
NM_017780.4(CHD7):c.5995G>C (p.Ala1999Pro)
|
rs1064794548
|
|
NM_017780.4(CHD7):c.6018del (p.Lys2006fs)
|
|
|
NM_017780.4(CHD7):c.6018dup (p.Ser2007fs)
|
rs1586444636
|
|
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter)
|
rs1360515765
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
NM_017780.4(CHD7):c.6087del (p.Val2030fs)
|
rs1805506816
|
|
NM_017780.4(CHD7):c.609T>A (p.His203Gln)
|
|
|
NM_017780.4(CHD7):c.6102_6103dup (p.Glu2035fs)
|
rs2150809140
|
|
NM_017780.4(CHD7):c.6105del (p.Glu2035fs)
|
rs886042024
|
|
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs)
|
rs1131691420
|
|
NM_017780.4(CHD7):c.6116T>G (p.Leu2039Arg)
|
rs2150809452
|
|
NM_017780.4(CHD7):c.6123C>T (p.Ser2041=)
|
rs2150809472
|
|
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter)
|
rs886040996
|
|
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)
|
rs587783450
|
|
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs)
|
rs886039528
|
|
NM_017780.4(CHD7):c.6166T>C (p.Tyr2056His)
|
|
|
NM_017780.4(CHD7):c.6175G>T (p.Glu2059Ter)
|
rs1057520712
|
|
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val)
|
rs1302545775
|
|
NM_017780.4(CHD7):c.6190A>G (p.Ile2064Val)
|
|
|
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly)
|
rs1064794250
|
|
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)
|
rs1064794250
|
|
NM_017780.4(CHD7):c.6196G>A (p.Glu2066Lys)
|
|
|
NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln)
|
|
|
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter)
|
rs766862122
|
|
NM_017780.4(CHD7):c.61_62delinsTC (p.Leu21Ser)
|
|
|
NM_017780.4(CHD7):c.6202G>A (p.Val2068Ile)
|
|
|
NM_017780.4(CHD7):c.6237G>A (p.Lys2079=)
|
rs770857676
|
|
NM_017780.4(CHD7):c.6239T>C (p.Leu2080Pro)
|
rs1064796615
|
|
NM_017780.4(CHD7):c.6241T>C (p.Cys2081Arg)
|
rs2150809854
|
|
NM_017780.4(CHD7):c.6243C>A (p.Cys2081Ter)
|
rs886041575
|
|
NM_017780.4(CHD7):c.6273G>A (p.Trp2091Ter)
|
|
|
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter)
|
rs875989879
|
|
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp)
|
rs794727555
|
|
NM_017780.4(CHD7):c.6323G>A (p.Gly2108Glu)
|
|
|
NM_017780.4(CHD7):c.6331C>T (p.Arg2111Trp)
|
|
|
NM_017780.4(CHD7):c.635A>G (p.Gln212Arg)
|
|
|
NM_017780.4(CHD7):c.6372C>G (p.Phe2124Leu)
|
|
|
NM_017780.4(CHD7):c.6378T>C (p.Asp2126=)
|
|
|
NM_017780.4(CHD7):c.6401A>G (p.Asn2134Ser)
|
|
|
NM_017780.4(CHD7):c.641C>T (p.Ser214Phe)
|
|
|
NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr)
|
|
|
NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly)
|
rs966839733
|
|
NM_017780.4(CHD7):c.6454C>T (p.Gln2152Ter)
|
rs373241264
|
|
NM_017780.4(CHD7):c.6466G>A (p.Val2156Ile)
|
|
|
NM_017780.4(CHD7):c.6492T>A (p.Asp2164Glu)
|
|
|
NM_017780.4(CHD7):c.6514G>T (p.Glu2172Ter)
|
rs761214775
|
|
NM_017780.4(CHD7):c.6529G>T (p.Glu2177Ter)
|
rs750047137
|
|
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu)
|
rs2150810874
|
|
NM_017780.4(CHD7):c.6557A>T (p.Lys2186Ile)
|
rs754943887
|
|
NM_017780.4(CHD7):c.656G>A (p.Gly219Asp)
|
rs794727297
|
|
NM_017780.4(CHD7):c.6574G>T (p.Glu2192Ter)
|
rs370361926
|
|
NM_017780.4(CHD7):c.6613C>T (p.Gln2205Ter)
|
rs886039688
|
|
NM_017780.4(CHD7):c.661A>G (p.Asn221Asp)
|
rs979421697
|
|
NM_017780.4(CHD7):c.6626C>T (p.Ala2209Val)
|
|
|
NM_017780.4(CHD7):c.6627del (p.Glu2210fs)
|
rs1805560892
|
|
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp)
|
rs1398262614
|
|
NM_017780.4(CHD7):c.664C>T (p.Gln222Ter)
|
rs1809060555
|
|
NM_017780.4(CHD7):c.6691T>C (p.Ser2231Pro)
|
|
|
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu)
|
rs1805568530
|
|
NM_017780.4(CHD7):c.6740A>G (p.Asp2247Gly)
|
|
|
NM_017780.4(CHD7):c.6746A>G (p.Asp2249Gly)
|
|
|
NM_017780.4(CHD7):c.6749A>G (p.Lys2250Arg)
|
|
|
NM_017780.4(CHD7):c.6754del (p.Glu2252fs)
|
rs886041170
|
|
NM_017780.4(CHD7):c.6756del (p.Glu2253fs)
|
rs1805571443
|
|
NM_017780.4(CHD7):c.6757G>T (p.Glu2253Ter)
|
rs1057517956
|
|
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
|
|
|
NM_017780.4(CHD7):c.6775+1G>T
|
rs1805573066
|
|
NM_017780.4(CHD7):c.6776-248G>A
|
rs139123848
|
|
NM_017780.4(CHD7):c.6781del (p.Ala2261fs)
|
rs886042039
|
|
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly)
|
rs587783454
|
|
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)
|
rs587783454
|
|
NM_017780.4(CHD7):c.6854dup (p.Asp2285fs)
|
rs1586449004
|
|
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser)
|
rs767696409
|
|
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=)
|
rs61733338
|
|
NM_017780.4(CHD7):c.6937-249G>A
|
rs192096433
|
|
NM_017780.4(CHD7):c.6937-2A>G
|
rs1586451506
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
NM_017780.4(CHD7):c.695del (p.Pro232fs)
|
|
|
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala)
|
rs1554604771
|
|
NM_017780.4(CHD7):c.6989del (p.Gly2330fs)
|
rs1563664199
|
|
NM_017780.4(CHD7):c.6994dup (p.Trp2332fs)
|
rs1554604772
|
|
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter)
|
rs794727569
|
|
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val)
|
rs1184188163
|
|
NM_017780.4(CHD7):c.706T>C (p.Ser236Pro)
|
|
|
NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu)
|
|
|
NM_017780.4(CHD7):c.7107C>A (p.Val2369=)
|
rs773674773
|
|
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
|
|
|
NM_017780.4(CHD7):c.7145dup (p.Ser2383fs)
|
rs786200969
|
|
NM_017780.4(CHD7):c.7155G>T (p.Gln2385His)
|
|
|
NM_017780.4(CHD7):c.7164+1G>A
|
rs2129644267
|
|
NM_017780.4(CHD7):c.7165-12A>G
|
rs2129646241
|
|
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=)
|
rs545381857
|
|
NM_017780.4(CHD7):c.7180C>T (p.Leu2394Phe)
|
rs1168283468
|
|
NM_017780.4(CHD7):c.7184C>T (p.Ser2395Phe)
|
|
|
NM_017780.4(CHD7):c.7192C>T (p.Arg2398Cys)
|
|
|
NM_017780.4(CHD7):c.722A>G (p.Gln241Arg)
|
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val)
|
rs1293236067
|
|
NM_017780.4(CHD7):c.7274C>G (p.Ala2425Gly)
|
rs2129648417
|
|
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter)
|
rs1320897198
|
|
NM_017780.4(CHD7):c.7297del (p.Val2433fs)
|
rs1064793972
|
|
NM_017780.4(CHD7):c.72C>T (p.Leu24=)
|
rs267601960
|
|
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu)
|
rs1060503188
|
|
NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly)
|
rs2129649399
|
|
NM_017780.4(CHD7):c.732_739delinsTATGGCAT (p.Pro247Ser)
|
rs2150579026
|
|
NM_017780.4(CHD7):c.7415C>T (p.Thr2472Ile)
|
|
|
NM_017780.4(CHD7):c.7426dup (p.Asp2476fs)
|
|
|
NM_017780.4(CHD7):c.7441C>T (p.Gln2481Ter)
|
rs2129651081
|
|
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys)
|
rs398124323
|
|
NM_017780.4(CHD7):c.7456C>T (p.Gln2486Ter)
|
rs1805733963
|
|
NM_017780.4(CHD7):c.7459G>T (p.Ala2487Ser)
|
|
|
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val)
|
rs1349434680
|
|
NM_017780.4(CHD7):c.7461A>G (p.Ala2487=)
|
rs1389183344
|
|
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro)
|
rs1319276265
|
|
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp)
|
rs371595770
|
|
NM_017780.4(CHD7):c.7519C>T (p.Pro2507Ser)
|
|
|
NM_017780.4(CHD7):c.7524del (p.Pro2508_Met2509insTer)
|
rs1554605128
|
|
NM_017780.4(CHD7):c.7526T>A (p.Met2509Lys)
|
|
|
NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly)
|
rs1805740102
|
|
NM_017780.4(CHD7):c.7602G>T (p.Leu2534Phe)
|
|
|
NM_017780.4(CHD7):c.7608+6T>C
|
|
|
NM_017780.4(CHD7):c.760C>T (p.Gln254Ter)
|
rs1554581354
|
|
NM_017780.4(CHD7):c.7629del (p.Ala2544fs)
|
rs1064793769
|
|
NM_017780.4(CHD7):c.7641_7651del (p.Glu2547fs)
|
rs886042312
|
|
NM_017780.4(CHD7):c.7647dup (p.Glu2550fs)
|
rs1554605972
|
|
NM_017780.4(CHD7):c.7652C>A (p.Thr2551Asn)
|
rs942070972
|
|
NM_017780.4(CHD7):c.7654C>A (p.Pro2552Thr)
|
|
|
NM_017780.4(CHD7):c.7655dup (p.Pro2553fs)
|
rs1057517957
|
|
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
|
|
|
NM_017780.4(CHD7):c.775del (p.His259fs)
|
rs1809069833
|
|
NM_017780.4(CHD7):c.7782G>A (p.Trp2594Ter)
|
rs769587871
|
|
NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter)
|
rs1563669432
|
|
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
|
rs1563669432
|
|
NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs)
|
rs1805949598
|
|
NM_017780.4(CHD7):c.7820del (p.Ser2607fs)
|
rs886041808
|
|
NM_017780.4(CHD7):c.7831-9C>T
|
rs1340959002
|
|
NM_017780.4(CHD7):c.7840del (p.Asp2614fs)
|
rs886039636
|
|
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
|
rs1064793346
|
|
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
|
rs587783457
|
|
NM_017780.4(CHD7):c.7921_7922del (p.Leu2641fs)
|
rs2129721505
|
|
NM_017780.4(CHD7):c.7945G>A (p.Val2649Ile)
|
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
NM_017780.4(CHD7):c.7971+6C>T
|
rs769103057
|
|
NM_017780.4(CHD7):c.7971+8C>T
|
rs1295446479
|
|
NM_017780.4(CHD7):c.7971G>T (p.Lys2657Asn)
|
rs2129721996
|
|
NM_017780.4(CHD7):c.7972-8C>T
|
|
|
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter)
|
rs748504264
|
|
NM_017780.4(CHD7):c.8037T>G (p.Phe2679Leu)
|
|
|
NM_017780.4(CHD7):c.8062dup (p.Ile2688fs)
|
rs886041933
|
|
NM_017780.4(CHD7):c.8063_8064del (p.Ile2688fs)
|
rs1554606367
|
|
NM_017780.4(CHD7):c.8076+146del
|
rs199514805
|
|
NM_017780.4(CHD7):c.8076+163_8076+164insATCA
|
rs71844748
|
|
NM_017780.4(CHD7):c.8076+168_8076+169insTCTTACATCAATACATCATT
|
rs71245526
|
|
NM_017780.4(CHD7):c.8076+1G>C
|
rs1563671108
|
|
NM_017780.4(CHD7):c.8076+8C>A
|
rs1554606381
|
|
NM_017780.4(CHD7):c.8077-60T>A
|
rs539809651
|
|
NM_017780.4(CHD7):c.8081_8082dup (p.Val2695fs)
|
rs1806173661
|
|
NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys)
|
rs1373315351
|
|
NM_017780.4(CHD7):c.8105G>A (p.Arg2702His)
|
rs1563673267
|
|
NM_017780.4(CHD7):c.814A>C (p.Ser272Arg)
|
|
|
NM_017780.4(CHD7):c.8163C>A (p.Pro2721=)
|
rs2129757929
|
|
NM_017780.4(CHD7):c.8187C>G (p.Ala2729=)
|
|
|
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr)
|
rs1806179701
|
|
NM_017780.4(CHD7):c.8196C>G (p.Ala2732=)
|
|
|
NM_017780.4(CHD7):c.8198C>A (p.Ala2733Asp)
|
|
|
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)
|
|
|
NM_017780.4(CHD7):c.8225A>G (p.Asn2742Ser)
|
rs1416636387
|
|
NM_017780.4(CHD7):c.8233C>G (p.Leu2745Val)
|
rs2129759389
|
|
NM_017780.4(CHD7):c.8270G>T (p.Ser2757Ile)
|
|
|
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu)
|
rs1286287151
|
|
NM_017780.4(CHD7):c.828C>A (p.Ser276=)
|
|
|
NM_017780.4(CHD7):c.8294A>T (p.Gln2765Leu)
|
rs1806184554
|
|
NM_017780.4(CHD7):c.8295G>T (p.Gln2765His)
|
rs375083875
|
|
NM_017780.4(CHD7):c.830dup (p.Asn278fs)
|
rs1809075967
|
|
NM_017780.4(CHD7):c.8318T>C (p.Met2773Thr)
|
|
|
NM_017780.4(CHD7):c.831G>A (p.Pro277=)
|
rs775415630
|
|
NM_017780.4(CHD7):c.831G>C (p.Pro277=)
|
rs775415630
|
|
NM_017780.4(CHD7):c.8324T>C (p.Phe2775Ser)
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NM_017780.4(CHD7):c.8325C>G (p.Phe2775Leu)
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rs2129761150
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NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val)
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rs770781688
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NM_017780.4(CHD7):c.8453_8463dup (p.Ala2822fs)
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rs797044725
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NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser)
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rs370129047
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NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr)
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rs533600930
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NM_017780.4(CHD7):c.8518del (p.Thr2840fs)
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rs1064793664
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NM_017780.4(CHD7):c.8580_8581insT (p.Thr2861fs)
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NM_017780.4(CHD7):c.8601T>C (p.Ala2867=)
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NM_017780.4(CHD7):c.8651C>G (p.Pro2884Arg)
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rs775800575
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NM_017780.4(CHD7):c.8672A>C (p.Asn2891Thr)
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rs202039728
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NM_017780.4(CHD7):c.8674C>G (p.Pro2892Ala)
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rs1806208860
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NM_017780.4(CHD7):c.8713C>A (p.Pro2905Thr)
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rs2129768643
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NM_017780.4(CHD7):c.8717C>T (p.Ser2906Phe)
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NM_017780.4(CHD7):c.8733A>G (p.Pro2911=)
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rs1458051473
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NM_017780.4(CHD7):c.8741G>A (p.Gly2914Glu)
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NM_017780.4(CHD7):c.877A>G (p.Ser293Gly)
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NM_017780.4(CHD7):c.878G>T (p.Ser293Ile)
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NM_017780.4(CHD7):c.879T>A (p.Ser293Arg)
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NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)
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NM_017780.4(CHD7):c.8871T>A (p.Asp2957Glu)
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rs2129771538
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NM_017780.4(CHD7):c.8879_8880insAGA (p.Glu2960dup)
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rs2129771691
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NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
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NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)
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rs886063033
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NM_017780.4(CHD7):c.8939A>G (p.Glu2980Gly)
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rs2129772587
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NM_017780.4(CHD7):c.8946C>T (p.Asp2982=)
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NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
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NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val)
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rs374004489
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NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del)
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rs771806027
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NM_017780.4(CHD7):c.8961G>A (p.Gly2987=)
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rs1586469564
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NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
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rs771806027
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NM_017780.4(CHD7):c.8965G>A (p.Glu2989Lys)
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rs1455036121
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NM_017780.4(CHD7):c.905CTA[1] (p.Thr303del)
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NM_017780.4(CHD7):c.908C>G (p.Thr303Ser)
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rs2150579546
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NM_017780.4(CHD7):c.934C>T (p.Arg312Ter)
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rs886041166
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NM_017780.4(CHD7):c.946A>G (p.Ser316Gly)
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rs1010032031
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NM_017780.4(CHD7):c.961G>T (p.Gly321Ter)
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rs1064793994
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NM_017780.4(CHD7):c.961_962delinsTA (p.Gly321Ter)
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rs1064793996
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NM_017780.4(CHD7):c.972C>A (p.Asn324Lys)
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Single allele
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rs1554581005
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