ClinVar Miner

List of variants in gene CHD7 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 728
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HGVS dbSNP gnomAD frequency
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.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
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.1536A>G (p.Pro512=) rs148577619 0.00218
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.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.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
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.3989+9C>T rs373206209 0.00029
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.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.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.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.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.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.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.4659T>A (p.Ile1553=) rs748644473 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.1424T>C (p.Met475Thr) rs749781761 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 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.1562C>T (p.Pro521Leu) rs373211059 0.00005
NM_017780.4(CHD7):c.2675G>A (p.Arg892His) rs200188105 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.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.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.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.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.6304G>T (p.Val2102Phe) rs753559567 0.00004
NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn) rs772379262 0.00004
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=) rs764110898 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.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649 0.00004
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.2758C>T (p.Arg920Trp) rs773773546 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.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.1053A>G (p.Val351=) rs199880694 0.00002
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys) rs767819417 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.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.4746T>C (p.Asp1582=) rs771978086 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.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.8759G>C (p.Gly2920Ala) rs769008751 0.00002
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr) rs1242867481 0.00002
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) rs878893652 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.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.2192C>T (p.Pro731Leu) rs1064794416 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.33C>T (p.Gly11=) rs560030949 0.00001
NM_017780.4(CHD7):c.3591C>G (p.Asn1197Lys) rs750556683 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.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.5665+9C>T rs568256905 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.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.6596G>A (p.Ser2199Asn) rs1064794854 0.00001
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val) rs1047690374 0.00001
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln) rs542880173 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.733A>G (p.Met245Val) rs768507639 0.00001
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg) rs759887905 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.7800T>G (p.Thr2600=) rs772124801 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.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.89C>T (p.Pro30Leu) rs768014298 0.00001
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg) rs763572916 0.00001
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.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.107C>G (p.Pro36Arg) rs2150577446
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
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.1179A>T (p.Pro393=) rs111238892
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.1366C>T (p.Gln456Ter)
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
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.1514A>G (p.Gln505Arg) rs1001211309
NM_017780.4(CHD7):c.151C>T (p.Gln51Ter) rs886039523
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.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.2097-2A>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.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.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.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.2613+93T>C rs1007714458
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.2644G>A (p.Val882Met)
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys) rs768961973
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.2713C>G (p.Leu905Val) rs2150748752
NM_017780.4(CHD7):c.2726_2728dup (p.Cys909dup) rs1554597381
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.2852A>T (p.Asp951Val) rs768456277
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.2977G>T (p.Asp993Tyr) rs1057518227
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.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.3226_3227del (p.Lys1076fs) rs1064796926
NM_017780.4(CHD7):c.3232C>T (p.His1078Tyr) rs1064795519
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.3357_3360del (p.Glu1119fs) rs1586393639
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) rs1804159058
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.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3403A>G (p.Thr1135Ala)
NM_017780.4(CHD7):c.3433T>C (p.Phe1145Leu) rs1131691908
NM_017780.4(CHD7):c.3522+1del rs1064796255
NM_017780.4(CHD7):c.3523G>A (p.Val1175Met) rs2150764579
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.3807del (p.Phe1269fs) rs1064793463
NM_017780.4(CHD7):c.3859C>T (p.Gln1287Ter) rs1554600522
NM_017780.4(CHD7):c.3905_3906dup (p.Lys1303Ter) rs1554600530
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.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.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.4136A>C (p.Asp1379Ala) rs1085307453
NM_017780.4(CHD7):c.4136A>T (p.Asp1379Val)
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.4203T>C (p.His1401=) rs969238742
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+3A>G rs587783441
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.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.4507G>T (p.Glu1503Ter) rs1064794248
NM_017780.4(CHD7):c.451C>G (p.Gln151Glu)
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.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.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.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.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.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.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.5103G>C (p.Gln1701His) rs2150793981
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
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.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.5218C>T (p.Leu1740=) rs1554603141
NM_017780.4(CHD7):c.5250A>C (p.Gln1750His)
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
NM_017780.4(CHD7):c.5315G>A (p.Trp1772Ter) rs1057517713
NM_017780.4(CHD7):c.5345del (p.Pro1782fs) rs2150801705
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
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.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.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.5701C>T (p.Leu1901Phe)
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.5894+102C>G rs118161607
NM_017780.4(CHD7):c.5895-1G>A
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.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.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.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.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.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.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.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.6454C>T (p.Gln2152Ter) rs373241264
NM_017780.4(CHD7):c.6466G>A (p.Val2156Ile)
NM_017780.4(CHD7):c.6514G>T (p.Glu2172Ter) rs761214775
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.6574G>T (p.Glu2192Ter) rs370361926
NM_017780.4(CHD7):c.6613C>T (p.Gln2205Ter) rs886039688
NM_017780.4(CHD7):c.6626C>T (p.Ala2209Val)
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.6692C>G (p.Ser2231Cys) rs554415600
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.6757G>T (p.Glu2253Ter) rs1057517956
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
NM_017780.4(CHD7):c.6776-248G>A rs139123848
NM_017780.4(CHD7):c.6781del (p.Ala2261fs) rs886042039
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.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6994dup (p.Trp2332fs) rs1554604772
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.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.7180C>T (p.Leu2394Phe) rs1168283468
NM_017780.4(CHD7):c.722A>G (p.Gln241Arg)
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
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.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.7460C>T (p.Ala2487Val) rs1349434680
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.7647dup (p.Glu2550fs) rs1554605972
NM_017780.4(CHD7):c.7652C>A (p.Thr2551Asn) rs942070972
NM_017780.4(CHD7):c.7655dup (p.Pro2553fs) rs1057517957
NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7820del (p.Ser2607fs) rs886041808
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.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7971+6C>T rs769103057
NM_017780.4(CHD7):c.7971G>T (p.Lys2657Asn) rs2129721996
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
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.8077-60T>A rs539809651
NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys) rs1373315351
NM_017780.4(CHD7):c.8163C>A (p.Pro2721=) rs2129757929
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr) rs1806179701
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.8294A>T (p.Gln2765Leu) rs1806184554
NM_017780.4(CHD7):c.8295G>T (p.Gln2765His) rs375083875
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)
NM_017780.4(CHD7):c.8325C>G (p.Phe2775Leu) rs2129761150
NM_017780.4(CHD7):c.8334A>T (p.Gly2778=) rs1358340358
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val) rs770781688
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8518del (p.Thr2840fs) rs1064793664
NM_017780.4(CHD7):c.8651C>G (p.Pro2884Arg) rs775800575
NM_017780.4(CHD7):c.8674C>G (p.Pro2892Ala) rs1806208860
NM_017780.4(CHD7):c.8713C>A (p.Pro2905Thr) rs2129768643
NM_017780.4(CHD7):c.8717C>T (p.Ser2906Phe)
NM_017780.4(CHD7):c.877A>G (p.Ser293Gly)
NM_017780.4(CHD7):c.879T>A (p.Ser293Arg)
NM_017780.4(CHD7):c.8871T>A (p.Asp2957Glu) rs2129771538
NM_017780.4(CHD7):c.8879_8880insAGA (p.Glu2960dup) rs2129771691
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8939A>G (p.Glu2980Gly) rs2129772587
NM_017780.4(CHD7):c.8946C>T (p.Asp2982=)
NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val) rs374004489
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.8965G>A (p.Glu2989Lys) rs1455036121
NM_017780.4(CHD7):c.905CTA[1] (p.Thr303del)
NM_017780.4(CHD7):c.908C>G (p.Thr303Ser) rs2150579546
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017780.4(CHD7):c.961G>T (p.Gly321Ter) rs1064793994
NM_017780.4(CHD7):c.961_962delinsTA (p.Gly321Ter) rs1064793996

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