ClinVar Miner

List of variants in gene CHD7 studied for hypogonadotropic hypogonadism

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2603
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_017780.4(CHD7):c.*1728T>C rs2280917 0.69116
NM_017780.4(CHD7):c.*1797C>T rs6985168 0.45413
NM_017780.4(CHD7):c.*1189A>C rs4738834 0.45310
NM_017780.4(CHD7):c.*1444T>G rs4237040 0.45155
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_017780.4(CHD7):c.-466A>G rs71513464 0.12438
NM_017780.3(CHD7):c.*2104T>A rs16926520 0.11399
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_017780.4(CHD7):c.*1579A>G rs10100774 0.03830
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
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.*1502G>A rs181017286 0.00566
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
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.2230G>A (p.Gly744Ser) rs141947938 0.00470
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.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.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.*1495C>T rs139790301 0.00207
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
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.5757C>G (p.Ala1919=) rs79203206 0.00160
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.*965G>A rs575515698 0.00108
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.*1123G>A rs77847411 0.00094
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
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.*96C>A rs193154029 0.00052
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.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.4014C>T (p.Gly1338=) rs188679907 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.*527C>T rs1011990961 0.00024
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.1473C>T (p.Ile491=) rs182294889 0.00019
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.4645-9T>C rs766575601 0.00014
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228 0.00014
NM_017780.4(CHD7):c.*1120C>T rs572548208 0.00013
NM_017780.4(CHD7):c.1423A>G (p.Met475Val) rs773039925 0.00013
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.5607+11G>A rs369304706 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.4146C>T (p.Ile1382=) rs372318215 0.00011
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 0.00011
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser) rs368224943 0.00011
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455 0.00011
NM_017780.4(CHD7):c.*1577C>G rs886063052 0.00010
NM_017780.4(CHD7):c.*1788C>T rs527801100 0.00010
NM_017780.4(CHD7):c.-249C>G rs886063029 0.00010
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449 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.2182G>C (p.Asp728His) rs756365280 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.5895-67A>G rs528151295 0.00009
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827 0.00009
NM_017780.4(CHD7):c.6885A>G (p.Ser2295=) rs752966093 0.00009
NM_017780.4(CHD7):c.698G>A (p.Gly233Asp) rs778249500 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.*644A>T rs779551569 0.00008
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.4644+17A>G rs376953317 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.6112G>A (p.Asp2038Asn) rs747846723 0.00008
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203 0.00008
NM_017780.4(CHD7):c.7596G>A (p.Thr2532=) rs375969680 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.8791G>A (p.Val2931Met) rs370271088 0.00008
NM_017780.4(CHD7):c.2803C>G (p.Leu935Val) rs370304926 0.00007
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu) rs367557471 0.00007
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.729C>T (p.Pro243=) rs371398600 0.00007
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840 0.00007
NM_017780.4(CHD7):c.805G>A (p.Val269Ile) rs747972265 0.00007
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472 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.-25T>A rs780813907 0.00006
NM_017780.4(CHD7):c.-327C>G rs531113504 0.00006
NM_017780.4(CHD7):c.1050T>C (p.Ala350=) rs777423713 0.00006
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.1659G>C (p.Val553=) rs1320484884 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 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.3126C>T (p.Asn1042=) rs568551629 0.00006
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131 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.4920A>G (p.Glu1640=) rs757952334 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.522G>A (p.Pro174=) rs577112542 0.00006
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227 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.6831C>T (p.Ser2277=) rs572350789 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.3202-3T>C rs1060503183 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) rs771781756 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.5301-13T>C rs368716487 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.7086C>T (p.Ser2362=) rs757280832 0.00005
NM_017780.4(CHD7):c.7294G>A (p.Val2432Met) rs372078650 0.00005
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys) rs368934543 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.8568C>T (p.Asp2856=) rs539868738 0.00005
NM_017780.4(CHD7):c.*1644A>G rs886063053 0.00004
NM_017780.4(CHD7):c.*659T>C rs886063048 0.00004
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.1281T>C (p.Tyr427=) rs373942842 0.00004
NM_017780.4(CHD7):c.1663C>A (p.Gln555Lys) rs200024753 0.00004
NM_017780.4(CHD7):c.2097-9G>C rs759100071 0.00004
NM_017780.4(CHD7):c.2123G>A (p.Ser708Asn) rs753687437 0.00004
NM_017780.4(CHD7):c.2238+12A>G rs752854030 0.00004
NM_017780.4(CHD7):c.2498+12G>T rs557099951 0.00004
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440 0.00004
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.294C>T (p.Leu98=) rs372513999 0.00004
NM_017780.4(CHD7):c.2958-16C>A rs772885661 0.00004
NM_017780.4(CHD7):c.3378+18T>C rs141625014 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439 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.4533+9C>T rs1047944999 0.00004
NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn) rs767513261 0.00004
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu) rs1201043974 0.00004
NM_017780.4(CHD7):c.4859G>A (p.Arg1620Gln) rs768497646 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.5051-14G>T rs766512334 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.524C>T (p.Ser175Leu) rs370305211 0.00004
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) rs1481262806 0.00004
NM_017780.4(CHD7):c.5405-18C>T rs199981784 0.00004
NM_017780.4(CHD7):c.5405-8C>T rs755505152 0.00004
NM_017780.4(CHD7):c.5409T>C (p.Tyr1803=) rs1021645395 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.5665+11A>G rs765928233 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) rs748578338 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu) rs369543203 0.00004
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400 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.6293G>A (p.Arg2098Gln) rs375199214 0.00004
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567 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.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.6775+13C>T rs775198282 0.00004
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg) rs368750638 0.00004
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659 0.00004
NM_017780.4(CHD7):c.7164+3G>A rs1181000692 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln) rs563360548 0.00004
NM_017780.4(CHD7):c.7308T>C (p.Asn2436=) rs375586969 0.00004
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=) rs764110898 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7680C>T (p.Pro2560=) rs761548538 0.00004
NM_017780.4(CHD7):c.7831-3C>T rs148884686 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.8355C>T (p.Ala2785=) rs370131873 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.8595G>A (p.Ser2865=) rs757002335 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg) rs912988587 0.00004
NM_017780.4(CHD7):c.8874C>T (p.Ala2958=) rs377755006 0.00004
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649 0.00004
NM_017780.4(CHD7):c.*2057G>A rs116952338 0.00003
NM_017780.4(CHD7):c.*622G>A rs886063047 0.00003
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys) rs767302034 0.00003
NM_017780.4(CHD7):c.1380A>G (p.Pro460=) rs746064587 0.00003
NM_017780.4(CHD7):c.1563G>A (p.Pro521=) rs765356585 0.00003
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.2176G>T (p.Asp726Tyr) rs748119797 0.00003
NM_017780.4(CHD7):c.2307T>C (p.Asp769=) rs574260169 0.00003
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) rs373873996 0.00003
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849 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.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu) rs200565677 0.00003
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721 0.00003
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=) rs1278636503 0.00003
NM_017780.4(CHD7):c.4413A>G (p.Ala1471=) rs746168554 0.00003
NM_017780.4(CHD7):c.4534-19G>A rs1386563597 0.00003
NM_017780.4(CHD7):c.4881C>T (p.His1627=) rs774433565 0.00003
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys) rs545545721 0.00003
NM_017780.4(CHD7):c.5049C>T (p.Ser1683=) rs529369619 0.00003
NM_017780.4(CHD7):c.5211-12C>T rs752789319 0.00003
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=) rs775003129 0.00003
NM_017780.4(CHD7):c.5535-4A>G rs777671269 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995 0.00003
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu) rs373241264 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.6669C>T (p.Val2223=) rs556577614 0.00003
NM_017780.4(CHD7):c.6677A>G (p.Asp2226Gly) rs755396598 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_017780.4(CHD7):c.67G>A (p.Gly23Ser) rs763058890 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.7248G>A (p.Lys2416=) rs768074891 0.00003
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=) rs751931671 0.00003
NM_017780.4(CHD7):c.7591C>T (p.Arg2531Trp) rs369550114 0.00003
NM_017780.4(CHD7):c.7746G>A (p.Gly2582=) rs746591351 0.00003
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr) rs370231679 0.00003
NM_017780.4(CHD7):c.8364T>C (p.Asp2788=) rs886063041 0.00003
NM_017780.4(CHD7):c.8508G>A (p.Pro2836=) rs371399850 0.00003
NM_017780.4(CHD7):c.8586T>C (p.Asp2862=) rs756572992 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) rs754831415 0.00003
NM_017780.4(CHD7):c.8802C>T (p.Ser2934=) rs778908675 0.00003
NM_017780.4(CHD7):c.*108A>G rs1412783180 0.00002
NM_017780.4(CHD7):c.*1628C>T rs956785378 0.00002
NM_017780.4(CHD7):c.*1679G>A rs1484512188 0.00002
NM_017780.4(CHD7):c.*505C>T rs886063046 0.00002
NM_017780.4(CHD7):c.*839A>G rs886063050 0.00002
NM_017780.4(CHD7):c.-70A>G rs1452184371 0.00002
NM_017780.4(CHD7):c.1053A>G (p.Val351=) rs199880694 0.00002
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu) rs765180149 0.00002
NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr) rs758228667 0.00002
NM_017780.4(CHD7):c.208G>C (p.Asp70His) rs759847780 0.00002
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys) rs767819417 0.00002
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889 0.00002
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg) rs1441258013 0.00002
NM_017780.4(CHD7):c.2443-4dup rs1207292215 0.00002
NM_017780.4(CHD7):c.2523A>G (p.Ala841=) rs970128606 0.00002
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp) rs371742009 0.00002
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln) rs773685788 0.00002
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460 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.296C>T (p.Ala99Val) rs772466277 0.00002
NM_017780.4(CHD7):c.3044T>C (p.Ile1015Thr) rs1374888110 0.00002
NM_017780.4(CHD7):c.304C>A (p.His102Asn) rs761253760 0.00002
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) rs1271767085 0.00002
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) rs762669262 0.00002
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) rs886044534 0.00002
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) rs764675280 0.00002
NM_017780.4(CHD7):c.3696C>T (p.Gly1232=) rs774107363 0.00002
NM_017780.4(CHD7):c.3711C>T (p.Asn1237=) rs372498366 0.00002
NM_017780.4(CHD7):c.3989+7A>G rs757622396 0.00002
NM_017780.4(CHD7):c.4002A>G (p.Glu1334=) rs752377617 0.00002
NM_017780.4(CHD7):c.4016G>A (p.Arg1339Gln) rs770876591 0.00002
NM_017780.4(CHD7):c.4185+19C>T rs767064028 0.00002
NM_017780.4(CHD7):c.4359A>G (p.Gln1453=) rs749531765 0.00002
NM_017780.4(CHD7):c.4534-4T>G rs762875935 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.4746T>C (p.Asp1582=) rs771978086 0.00002
NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp) rs773187713 0.00002
NM_017780.4(CHD7):c.4850+19G>A rs746769941 0.00002
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) rs61742851 0.00002
NM_017780.4(CHD7):c.5016G>A (p.Ala1672=) rs370321135 0.00002
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn) rs769563309 0.00002
NM_017780.4(CHD7):c.5050+20T>A rs760955712 0.00002
NM_017780.4(CHD7):c.516G>A (p.Pro172=) rs377332156 0.00002
NM_017780.4(CHD7):c.5210+16G>T rs747154720 0.00002
NM_017780.4(CHD7):c.5214C>T (p.Val1738=) rs756430456 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.561G>A (p.Gln187=) rs181083503 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.6087C>T (p.Pro2029=) rs550461070 0.00002
NM_017780.4(CHD7):c.6104-9G>A rs567669913 0.00002
NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser) rs1189776580 0.00002
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038 0.00002
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met) rs1349507815 0.00002
NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu) rs766862122 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg) rs747357928 0.00002
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098 0.00002
NM_017780.4(CHD7):c.6680C>G (p.Thr2227Ser) rs1416622951 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=) rs572098274 0.00002
NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu) rs373370399 0.00002
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) rs189926848 0.00002
NM_017780.4(CHD7):c.7146G>A (p.Thr2382=) rs1450918582 0.00002
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870 0.00002
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) rs375325395 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390 0.00002
NM_017780.4(CHD7):c.756G>A (p.Ser252=) rs371000762 0.00002
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser) rs748036782 0.00002
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715 0.00002
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) rs764847747 0.00002
NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser) rs1012221437 0.00002
NM_017780.4(CHD7):c.7971+7G>A rs554518877 0.00002
NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr) rs757707495 0.00002
NM_017780.4(CHD7):c.8214G>A (p.Thr2738=) rs199570256 0.00002
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=) rs752708986 0.00002
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu) rs925177812 0.00002
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616 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.8855C>G (p.Thr2952Ser) rs748655442 0.00002
NM_017780.4(CHD7):c.947G>T (p.Ser316Ile) rs749302988 0.00002
NM_017780.4(CHD7):c.*1737T>C rs1806282500 0.00001
NM_017780.4(CHD7):c.*1804T>G rs973384265 0.00001
NM_017780.4(CHD7):c.*731G>A rs886063049 0.00001
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00001
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.1116A>C (p.Ser372=) rs760034378 0.00001
NM_017780.4(CHD7):c.1141A>G (p.Met381Val) rs144778638 0.00001
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser) rs1554581580 0.00001
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser) rs1300386910 0.00001
NM_017780.4(CHD7):c.1310A>G (p.His437Arg) rs746261185 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.1361A>G (p.Asn454Ser) rs766249962 0.00001
NM_017780.4(CHD7):c.1395C>T (p.Ser465=) rs747525292 0.00001
NM_017780.4(CHD7):c.139T>G (p.Phe47Val) rs1364452059 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.1512A>G (p.Gln504=) rs587783430 0.00001
NM_017780.4(CHD7):c.1539C>T (p.Thr513=) rs777411052 0.00001
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960 0.00001
NM_017780.4(CHD7):c.156A>G (p.Pro52=) rs398124315 0.00001
NM_017780.4(CHD7):c.1622A>G (p.His541Arg) rs1388338640 0.00001
NM_017780.4(CHD7):c.1626A>G (p.Pro542=) rs747791210 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.164A>G (p.His55Arg) rs121434345 0.00001
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu) rs745476515 0.00001
NM_017780.4(CHD7):c.1665+17C>T rs760402351 0.00001
NM_017780.4(CHD7):c.168T>C (p.His56=) rs199776087 0.00001
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser) rs548706525 0.00001
NM_017780.4(CHD7):c.202C>T (p.His68Tyr) rs886063032 0.00001
NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp) rs370267935 0.00001
NM_017780.4(CHD7):c.2175A>G (p.Ser725=) rs1471731176 0.00001
NM_017780.4(CHD7):c.2184C>A (p.Asp728Glu) rs771267153 0.00001
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu) rs1064794416 0.00001
NM_017780.4(CHD7):c.2355C>T (p.Asn785=) rs376696075 0.00001
NM_017780.4(CHD7):c.2377-13C>A rs747682287 0.00001
NM_017780.4(CHD7):c.2377-3T>A rs545931432 0.00001
NM_017780.4(CHD7):c.2442+17C>T rs766555433 0.00001
NM_017780.4(CHD7):c.2527A>G (p.Ile843Val) rs772358323 0.00001
NM_017780.4(CHD7):c.258G>A (p.Pro86=) rs750046226 0.00001
NM_017780.4(CHD7):c.2613+4C>T rs779615403 0.00001
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=) rs587783433 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.2665G>A (p.Asp889Asn) rs1330677850 0.00001
NM_017780.4(CHD7):c.2697+20A>G rs759236343 0.00001
NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser) rs1224277360 0.00001
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg) rs755233517 0.00001
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln) rs1014640333 0.00001
NM_017780.4(CHD7):c.276C>T (p.Asn92=) rs779967922 0.00001
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) rs775000989 0.00001
NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu) rs753887911 0.00001
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys) rs751691380 0.00001
NM_017780.4(CHD7):c.2836-5A>G rs779518202 0.00001
NM_017780.4(CHD7):c.2839C>A (p.Arg947=) rs200220845 0.00001
NM_017780.4(CHD7):c.2853T>A (p.Asp951Glu) rs1804067183 0.00001
NM_017780.4(CHD7):c.2874T>A (p.Ser958Arg) rs773259542 0.00001
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) rs368160678 0.00001
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile) rs1345463010 0.00001
NM_017780.4(CHD7):c.2956A>G (p.Met986Val) rs764345519 0.00001
NM_017780.4(CHD7):c.297G>A (p.Ala99=) rs775823361 0.00001
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val) rs375374626 0.00001
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) rs776900495 0.00001
NM_017780.4(CHD7):c.302C>T (p.Pro101Leu) rs769161426 0.00001
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val) rs1415116812 0.00001
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) rs750785243 0.00001
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) rs201320784 0.00001
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440 0.00001
NM_017780.4(CHD7):c.308C>T (p.Ser103Leu) rs1242372187 0.00001
NM_017780.4(CHD7):c.3160C>T (p.Arg1054Trp) rs1563631484 0.00001
NM_017780.4(CHD7):c.3202-7C>G rs376893919 0.00001
NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln) rs1346050533 0.00001
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) rs759929302 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307 0.00001
NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys) rs753233210 0.00001
NM_017780.4(CHD7):c.3324C>T (p.His1108=) rs189618218 0.00001
NM_017780.4(CHD7):c.3378+16G>A rs771299507 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.3483A>G (p.Thr1161=) rs371212381 0.00001
NM_017780.4(CHD7):c.3522+14C>G rs752672896 0.00001
NM_017780.4(CHD7):c.3523-3T>C rs1804451088 0.00001
NM_017780.4(CHD7):c.3525G>A (p.Val1175=) rs1804451207 0.00001
NM_017780.4(CHD7):c.3616A>G (p.Ile1206Val) rs755429625 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.3776A>G (p.Asn1259Ser) rs1239880284 0.00001
NM_017780.4(CHD7):c.3778+10C>T rs756438089 0.00001
NM_017780.4(CHD7):c.3778+16T>G rs1037329080 0.00001
NM_017780.4(CHD7):c.3778+18G>A rs749741616 0.00001
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=) rs747100145 0.00001
NM_017780.4(CHD7):c.405G>A (p.Gly135=) rs1586248250 0.00001
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602 0.00001
NM_017780.4(CHD7):c.4194T>C (p.Ala1398=) rs898986489 0.00001
NM_017780.4(CHD7):c.4260T>C (p.Tyr1420=) rs376148485 0.00001
NM_017780.4(CHD7):c.4302G>A (p.Leu1434=) rs760088130 0.00001
NM_017780.4(CHD7):c.4328G>A (p.Ser1443Asn) rs1333684435 0.00001
NM_017780.4(CHD7):c.4354-7A>G rs778196351 0.00001
NM_017780.4(CHD7):c.4392A>G (p.Leu1464=) rs1280225379 0.00001
NM_017780.4(CHD7):c.4446C>T (p.Phe1482=) rs1804820497 0.00001
NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys) rs1009126876 0.00001
NM_017780.4(CHD7):c.4644+14C>T rs1368983693 0.00001
NM_017780.4(CHD7):c.4644+20C>T rs1168248095 0.00001
NM_017780.4(CHD7):c.4691T>C (p.Leu1564Pro) rs1804991326 0.00001
NM_017780.4(CHD7):c.474C>T (p.Ala158=) rs1056527329 0.00001
NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys) rs763070165 0.00001
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082 0.00001
NM_017780.4(CHD7):c.4782C>G (p.Pro1594=) rs751778680 0.00001
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) rs267606724 0.00001
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr) rs375951527 0.00001
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051 0.00001
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg) rs755340969 0.00001
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His) rs1249078741 0.00001
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys) rs200964201 0.00001
NM_017780.4(CHD7):c.4850+13C>T rs1311582288 0.00001
NM_017780.4(CHD7):c.4850+16T>G rs1374096411 0.00001
NM_017780.4(CHD7):c.4850+18C>T rs375486200 0.00001
NM_017780.4(CHD7):c.4860G>C (p.Arg1620=) rs1441410913 0.00001
NM_017780.4(CHD7):c.486G>A (p.Gln162=) rs201635864 0.00001
NM_017780.4(CHD7):c.4899A>G (p.Gln1633=) rs761002319 0.00001
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744 0.00001
NM_017780.4(CHD7):c.498G>A (p.Gln166=) rs1223182973 0.00001
NM_017780.4(CHD7):c.501G>A (p.Pro167=) rs770348243 0.00001
NM_017780.4(CHD7):c.5025G>A (p.Gln1675=) rs769769149 0.00001
NM_017780.4(CHD7):c.5051-17T>G rs754678467 0.00001
NM_017780.4(CHD7):c.5067G>A (p.Val1689=) rs912054705 0.00001
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) rs966292699 0.00001
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759 0.00001
NM_017780.4(CHD7):c.5148C>T (p.Cys1716=) rs907665748 0.00001
NM_017780.4(CHD7):c.5154A>C (p.Pro1718=) rs988819155 0.00001
NM_017780.4(CHD7):c.5160C>T (p.Ala1720=) rs766759257 0.00001
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) rs752330796 0.00001
NM_017780.4(CHD7):c.5200C>T (p.His1734Tyr) rs1805162137 0.00001
NM_017780.4(CHD7):c.5210+20A>G rs781624235 0.00001
NM_017780.4(CHD7):c.5211-17T>C rs1805309524 0.00001
NM_017780.4(CHD7):c.5211-19C>A rs371367716 0.00001
NM_017780.4(CHD7):c.528G>A (p.Gly176=) rs986970598 0.00001
NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn) rs762824174 0.00001
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157 0.00001
NM_017780.4(CHD7):c.5367A>T (p.Glu1789Asp) rs1233584524 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.5404+10G>A rs780602451 0.00001
NM_017780.4(CHD7):c.5404+5G>A rs1255859560 0.00001
NM_017780.4(CHD7):c.5404+9C>T rs755413885 0.00001
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln) rs755632561 0.00001
NM_017780.4(CHD7):c.5438C>T (p.Pro1813Leu) rs1317412492 0.00001
NM_017780.4(CHD7):c.5441C>T (p.Ala1814Val) rs1805407417 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.548C>T (p.Pro183Leu) rs751847978 0.00001
NM_017780.4(CHD7):c.5493C>T (p.Ala1831=) rs773211166 0.00001
NM_017780.4(CHD7):c.549T>C (p.Pro183=) rs775862054 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017780.4(CHD7):c.5532C>T (p.Asp1844=) rs368279646 0.00001
NM_017780.4(CHD7):c.5565A>G (p.Pro1855=) rs752961577 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.5722A>C (p.Thr1908Pro) rs1329534393 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys) rs768950252 0.00001
NM_017780.4(CHD7):c.577A>G (p.Met193Val) rs542672517 0.00001
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys) rs535347450 0.00001
NM_017780.4(CHD7):c.5797G>A (p.Ala1933Thr) rs1418642683 0.00001
NM_017780.4(CHD7):c.5811T>C (p.Thr1937=) rs370573809 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.583C>T (p.Arg195Cys) rs773990845 0.00001
NM_017780.4(CHD7):c.584G>A (p.Arg195His) rs1250450695 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.5895-3C>T rs757905650 0.00001
NM_017780.4(CHD7):c.5915C>G (p.Ala1972Gly) rs1013310877 0.00001
NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala) rs1805501956 0.00001
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201 0.00001
NM_017780.4(CHD7):c.6104-5T>C rs376131239 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.6195C>T (p.Arg2065=) rs750835437 0.00001
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val) rs752107963 0.00001
NM_017780.4(CHD7):c.6207C>T (p.Leu2069=) rs755379819 0.00001
NM_017780.4(CHD7):c.6214C>T (p.Pro2072Ser) rs780772673 0.00001
NM_017780.4(CHD7):c.6225A>G (p.Gly2075=) rs886038635 0.00001
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) rs377497122 0.00001
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln) rs773114816 0.00001
NM_017780.4(CHD7):c.631A>C (p.Ser211Arg) rs936848734 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe) rs367733295 0.00001
NM_017780.4(CHD7):c.6358C>G (p.Pro2120Ala) rs375490876 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.6459T>C (p.Thr2153=) rs1484332534 0.00001
NM_017780.4(CHD7):c.6471C>T (p.Ile2157=) rs1170403904 0.00001
NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn) rs1064794854 0.00001
NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg) rs1805560223 0.00001
NM_017780.4(CHD7):c.6624G>A (p.Glu2208=) rs762541154 0.00001
NM_017780.4(CHD7):c.6632C>T (p.Ala2211Val) rs1398262614 0.00001
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser) rs758745100 0.00001
NM_017780.4(CHD7):c.6712G>A (p.Glu2238Lys) rs1227502557 0.00001
NM_017780.4(CHD7):c.6753G>A (p.Ser2251=) rs755202253 0.00001
NM_017780.4(CHD7):c.6775+10T>C rs180852795 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.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln) rs542880173 0.00001
NM_017780.4(CHD7):c.685A>G (p.Thr229Ala) rs767816305 0.00001
NM_017780.4(CHD7):c.6936+19C>G rs1410303595 0.00001
NM_017780.4(CHD7):c.6936+6C>T rs762730711 0.00001
NM_017780.4(CHD7):c.6937-8C>T rs765520430 0.00001
NM_017780.4(CHD7):c.6937-9T>G rs1203336052 0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) rs765943226 0.00001
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) rs755973702 0.00001
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His) rs763555514 0.00001
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile) rs1247369056 0.00001
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) rs766773531 0.00001
NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu) rs1419897952 0.00001
NM_017780.4(CHD7):c.702C>G (p.His234Gln) rs565216093 0.00001
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) rs1271940749 0.00001
NM_017780.4(CHD7):c.705G>A (p.Leu235=) rs918029767 0.00001
NM_017780.4(CHD7):c.711C>T (p.His237=) rs1188337353 0.00001
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) rs142095932 0.00001
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) rs1287878235 0.00001
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252 0.00001
NM_017780.4(CHD7):c.7183T>C (p.Ser2395Pro) rs1285534131 0.00001
NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp) rs770959300 0.00001
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177 0.00001
NM_017780.4(CHD7):c.7221C>T (p.Ile2407=) rs777847508 0.00001
NM_017780.4(CHD7):c.7224A>G (p.Glu2408=) rs749492213 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017780.4(CHD7):c.733A>G (p.Met245Val) rs768507639 0.00001
NM_017780.4(CHD7):c.7380T>G (p.Ser2460=) rs1259500954 0.00001
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123 0.00001
NM_017780.4(CHD7):c.7416A>G (p.Thr2472=) rs769395535 0.00001
NM_017780.4(CHD7):c.7469C>T (p.Ser2490Leu) rs371595770 0.00001
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) rs528722099 0.00001
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00001
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp) rs529799008 0.00001
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln) rs1064794649 0.00001
NM_017780.4(CHD7):c.7609-4G>T rs955067555 0.00001
NM_017780.4(CHD7):c.7655C>T (p.Pro2552Leu) rs1805941132 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_017780.4(CHD7):c.7752T>A (p.Asp2584Glu) rs1427104456 0.00001
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala) rs754831330 0.00001
NM_017780.4(CHD7):c.7789C>T (p.Leu2597=) rs774537514 0.00001
NM_017780.4(CHD7):c.778C>T (p.Pro260Ser) rs766382878 0.00001
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=) rs772124801 0.00001
NM_017780.4(CHD7):c.7818A>G (p.Pro2606=) rs764474527 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.7958G>A (p.Arg2653Gln) rs747082615 0.00001
NM_017780.4(CHD7):c.7962T>C (p.Asn2654=) rs1372823546 0.00001
NM_017780.4(CHD7):c.7972-10C>G rs912810188 0.00001
NM_017780.4(CHD7):c.7972-4C>T rs1193013965 0.00001
NM_017780.4(CHD7):c.7972A>G (p.Met2658Val) rs1056534038 0.00001
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=) rs576905094 0.00001
NM_017780.4(CHD7):c.804C>T (p.Ser268=) rs780756877 0.00001
NM_017780.4(CHD7):c.8067T>G (p.Val2689=) rs772599631 0.00001
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp) rs1418386669 0.00001
NM_017780.4(CHD7):c.813C>T (p.His271=) rs773253450 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn) rs756347672 0.00001
NM_017780.4(CHD7):c.817C>T (p.Pro273Ser) rs1284559737 0.00001
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg) rs373124679 0.00001
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) rs747420884 0.00001
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr) rs200140270 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.8413G>A (p.Gly2805Ser) rs759567393 0.00001
NM_017780.4(CHD7):c.8418G>C (p.Leu2806=) rs776919709 0.00001
NM_017780.4(CHD7):c.8424C>T (p.Asn2808=) rs773594482 0.00001
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) rs964405365 0.00001
NM_017780.4(CHD7):c.8452_8454dup (p.Asn2818dup) rs1443281585 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.8562C>G (p.Asn2854Lys) rs1222693383 0.00001
NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp) rs970020036 0.00001
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu) rs762290343 0.00001
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674 0.00001
NM_017780.4(CHD7):c.8623G>C (p.Gly2875Arg) rs768688793 0.00001
NM_017780.4(CHD7):c.8632A>G (p.Thr2878Ala) rs773395000 0.00001
NM_017780.4(CHD7):c.8646A>C (p.Gly2882=) rs1586468596 0.00001
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro) rs764758566 0.00001
NM_017780.4(CHD7):c.8751G>C (p.Thr2917=) rs761033941 0.00001
NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr) rs762344310 0.00001
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) rs374344463 0.00001
NM_017780.4(CHD7):c.8803G>A (p.Glu2935Lys) rs745944842 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.8856C>A (p.Thr2952=) rs770325741 0.00001
NM_017780.4(CHD7):c.8859T>C (p.Leu2953=) rs1218577575 0.00001
NM_017780.4(CHD7):c.8868C>T (p.Ser2956=) rs575284775 0.00001
NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly) rs1308226776 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.910A>G (p.Ile304Val) rs1274555136 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556 0.00001
NM_017780.4(CHD7):c.988C>G (p.Gln330Glu) rs1053945677 0.00001
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg) rs763572916 0.00001
NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
NC_000008.10:g.(?_61653972)_(61655676_?)dup
NC_000008.10:g.(?_61720756)_(61720851_?)del
NC_000008.10:g.(?_61777555)_(61778492_?)dup
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)dup
NC_000008.11:g.60867891_60867903delins60868515_60868872
NG_007009.1:g.138884_149300del
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.*1374C>A rs1351282001
NM_017780.4(CHD7):c.*1469G>T rs886063051
NM_017780.4(CHD7):c.*1663AG[1] rs761460675
NM_017780.4(CHD7):c.*166T>C rs1045828796
NM_017780.4(CHD7):c.*1698T>G rs544498983
NM_017780.4(CHD7):c.*1832A>G rs886063055
NM_017780.4(CHD7):c.*190A>G rs1032110611
NM_017780.4(CHD7):c.*19C>A rs371417969
NM_017780.4(CHD7):c.*21A>G rs1279774618
NM_017780.4(CHD7):c.*293G>C rs886063044
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.*489C>G rs1806244672
NM_017780.4(CHD7):c.*542C>T rs565543543
NM_017780.4(CHD7):c.-102G>T rs1808989933
NM_017780.4(CHD7):c.-15G>A
NM_017780.4(CHD7):c.-181C>G rs531989939
NM_017780.4(CHD7):c.-298C>A rs886063028
NM_017780.4(CHD7):c.-380C>T rs113958504
NM_017780.4(CHD7):c.-465GCG[8] rs71245513
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-469G>A rs868087197
NM_017780.4(CHD7):c.-472G>A rs865775134
NM_017780.4(CHD7):c.-481G>A rs886063024
NM_017780.4(CHD7):c.-490GGC[10] rs886063023
NM_017780.4(CHD7):c.-490GGC[9] rs886063023
NM_017780.4(CHD7):c.1004C>T (p.Thr335Ile)
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.102A>G (p.Val34=) rs1170310957
NM_017780.4(CHD7):c.1032A>G (p.Val344=)
NM_017780.4(CHD7):c.1035A>C (p.Pro345=)
NM_017780.4(CHD7):c.1037_1040del (p.Arg346fs) rs2150579872
NM_017780.4(CHD7):c.1037_1046del (p.Arg346fs)
NM_017780.4(CHD7):c.1049C>T (p.Ala350Val) rs2150579918
NM_017780.4(CHD7):c.1054G>A (p.Gly352Arg)
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
NM_017780.4(CHD7):c.1069A>G (p.Ser357Gly) rs1809095447
NM_017780.4(CHD7):c.106C>T (p.Pro36Ser)
NM_017780.4(CHD7):c.1070G>A (p.Ser357Asn)
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1092G>A (p.Gln364=) rs1430411532
NM_017780.4(CHD7):c.1095G>C (p.Gln365His)
NM_017780.4(CHD7):c.1096C>T (p.Pro366Ser)
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
NM_017780.4(CHD7):c.1107C>T (p.Pro369=) rs1375829546
NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly) rs1809098477
NM_017780.4(CHD7):c.110T>C (p.Met37Thr)
NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)
NM_017780.4(CHD7):c.1120A>G (p.Asn374Asp)
NM_017780.4(CHD7):c.1126A>G (p.Met376Val) rs1317332713
NM_017780.4(CHD7):c.1135C>A (p.Gln379Lys) rs2150580201
NM_017780.4(CHD7):c.1136A>G (p.Gln379Arg)
NM_017780.4(CHD7):c.1159C>T (p.Gln387Ter) rs2150580244
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.1172C>G (p.Ala391Gly)
NM_017780.4(CHD7):c.1173C>G (p.Ala391=) rs2150580271
NM_017780.4(CHD7):c.1179A>T (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser)
NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu)
NM_017780.4(CHD7):c.1186A>G (p.Met396Val)
NM_017780.4(CHD7):c.1193C>A (p.Pro398His) rs1586250714
NM_017780.4(CHD7):c.1195A>G (p.Met399Val)
NM_017780.4(CHD7):c.1197G>A (p.Met399Ile)
NM_017780.4(CHD7):c.1201G>A (p.Ala401Thr)
NM_017780.4(CHD7):c.1204A>G (p.Met402Val)
NM_017780.4(CHD7):c.1205T>C (p.Met402Thr) rs775931738
NM_017780.4(CHD7):c.1214C>T (p.Pro405Leu)
NM_017780.4(CHD7):c.1221C>T (p.Gly407=) rs1809105436
NM_017780.4(CHD7):c.1222A>G (p.Thr408Ala) rs760121832
NM_017780.4(CHD7):c.1233A>G (p.Pro411=) rs1809107487
NM_017780.4(CHD7):c.1238T>G (p.Val413Gly) rs1021434443
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser) rs1313265725
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1247G>A (p.Gly416Glu)
NM_017780.4(CHD7):c.1250G>A (p.Ser417Asn)
NM_017780.4(CHD7):c.1250_1259del (p.Ser417fs)
NM_017780.4(CHD7):c.1260A>C (p.Ile420=) rs1332728138
NM_017780.4(CHD7):c.1260A>G (p.Ile420Met) rs1332728138
NM_017780.4(CHD7):c.1267del (p.Glu423fs) rs1809110580
NM_017780.4(CHD7):c.1271_1273del (p.Val424del) rs1466152038
NM_017780.4(CHD7):c.1277G>A (p.Ser426Asn)
NM_017780.4(CHD7):c.1285A>C (p.Asn429His) rs771200821
NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp)
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) rs1586251038
NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)
NM_017780.4(CHD7):c.1311C>T (p.His437=)
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala) rs772369092
NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser) rs772369092
NM_017780.4(CHD7):c.1321G>T (p.Gly441Cys)
NM_017780.4(CHD7):c.1337G>A (p.Gly446Glu)
NM_017780.4(CHD7):c.1339C>T (p.Gln447Ter) rs2150580758
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1348A>G (p.Met450Val)
NM_017780.4(CHD7):c.1349T>C (p.Met450Thr)
NM_017780.4(CHD7):c.1349T>G (p.Met450Arg)
NM_017780.4(CHD7):c.1356C>T (p.Pro452=)
NM_017780.4(CHD7):c.1365G>A (p.Met455Ile)
NM_017780.4(CHD7):c.1365dup (p.Gln456fs)
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter) rs727503861
NM_017780.4(CHD7):c.1376G>A (p.Arg459His)
NM_017780.4(CHD7):c.1390A>T (p.Met464Leu)
NM_017780.4(CHD7):c.1392G>T (p.Met464Ile) rs780392912
NM_017780.4(CHD7):c.1394C>T (p.Ser465Phe)
NM_017780.4(CHD7):c.13G>C (p.Gly5Arg) rs886063031
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
NM_017780.4(CHD7):c.141T>C (p.Phe47=) rs2150577522
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1428G>A (p.Arg476=)
NM_017780.4(CHD7):c.1429C>T (p.Pro477Ser) rs774211699
NM_017780.4(CHD7):c.1439G>T (p.Cys480Phe)
NM_017780.4(CHD7):c.1444G>A (p.Gly482Ser)
NM_017780.4(CHD7):c.1445G>A (p.Gly482Asp) rs911422083
NM_017780.4(CHD7):c.1446dup (p.Val483fs) rs2150581008
NM_017780.4(CHD7):c.1449T>G (p.Val483=)
NM_017780.4(CHD7):c.1451G>T (p.Gly484Val)
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro) rs1313748646
NM_017780.4(CHD7):c.1466A>C (p.Gln489Pro)
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn) rs1383452692
NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg)
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1488dup (p.Pro497fs) rs786204200
NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr)
NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg) rs1809129557
NM_017780.4(CHD7):c.1497A>G (p.Gln499=)
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg) rs1465792260
NM_017780.4(CHD7):c.1505del (p.Pro502fs) rs863224517
NM_017780.4(CHD7):c.1509T>C (p.Gly503=)
NM_017780.4(CHD7):c.1510C>G (p.Gln504Glu)
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) rs1554581757
NM_017780.4(CHD7):c.1525C>T (p.Gln509Ter)
NM_017780.4(CHD7):c.152A>G (p.Gln51Arg) rs1809015487
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) rs748635676
NM_017780.4(CHD7):c.1537A>G (p.Thr513Ala) rs957224882
NM_017780.4(CHD7):c.1542TCC[1] (p.Pro516del) rs746859882
NM_017780.4(CHD7):c.1543C>A (p.Pro515Thr) rs1210884047
NM_017780.4(CHD7):c.1543C>G (p.Pro515Ala)
NM_017780.4(CHD7):c.1543C>T (p.Pro515Ser) rs1210884047
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs)
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.1554G>C (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1554G>T (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1556C>T (p.Pro519Leu)
NM_017780.4(CHD7):c.155C>G (p.Pro52Arg)
NM_017780.4(CHD7):c.1561C>G (p.Pro521Ala)
NM_017780.4(CHD7):c.1570C>T (p.His524Tyr)
NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg) rs2150581368
NM_017780.4(CHD7):c.1581T>C (p.Ser527=)
NM_017780.4(CHD7):c.1589_1597del (p.Pro530_Pro532del)
NM_017780.4(CHD7):c.1595del (p.Pro532fs)
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter) rs751709941
NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu) rs1809137397
NM_017780.4(CHD7):c.160C>G (p.Leu54Val)
NM_017780.4(CHD7):c.1632C>G (p.Pro544=) rs45536935
NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter)
NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro) rs1586252204
NM_017780.4(CHD7):c.1653G>A (p.Val551=)
NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)
NM_017780.4(CHD7):c.1665+10C>G
NM_017780.4(CHD7):c.1665+14G>C
NM_017780.4(CHD7):c.1665+16G>A rs2150581557
NM_017780.4(CHD7):c.1665+1G>A
NM_017780.4(CHD7):c.1665+20A>C
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
NM_017780.4(CHD7):c.18G>T (p.Met6Ile)
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu) rs1809021019
NM_017780.4(CHD7):c.2097-14A>G
NM_017780.4(CHD7):c.2097-19G>A rs559713378
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2097-2A>G rs2150697457
NM_017780.4(CHD7):c.2097T>G (p.Ser699Arg) rs767027265
NM_017780.4(CHD7):c.209A>G (p.Asp70Gly)
NM_017780.4(CHD7):c.2117A>T (p.Glu706Val)
NM_017780.4(CHD7):c.2118A>G (p.Glu706=) rs2150697530
NM_017780.4(CHD7):c.2129del (p.Ala709_Leu710insTer) rs2150697555
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp)
NM_017780.4(CHD7):c.216T>A (p.Tyr72Ter)
NM_017780.4(CHD7):c.2175A>C (p.Ser725=)
NM_017780.4(CHD7):c.2183A>G (p.Asp728Gly) rs749679283
NM_017780.4(CHD7):c.2187A>G (p.Lys729=) rs1405754910
NM_017780.4(CHD7):c.2189dup (p.Pro731fs) rs2150697787
NM_017780.4(CHD7):c.2195del (p.Pro732fs) rs1586341138
NM_017780.4(CHD7):c.2195dup (p.Pro733fs) rs1586341138
NM_017780.4(CHD7):c.2196A>G (p.Pro732=)
NM_017780.4(CHD7):c.2196dup (p.Pro733fs) rs2150697832
NM_017780.4(CHD7):c.2198C>T (p.Pro733Leu)
NM_017780.4(CHD7):c.2199A>G (p.Pro733=)
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) rs748363597
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn) rs776372236
NM_017780.4(CHD7):c.2220T>A (p.Asp740Glu)
NM_017780.4(CHD7):c.2224G>A (p.Asp742Asn)
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2232T>G (p.Gly744=)
NM_017780.4(CHD7):c.2233G>A (p.Val745Ile) rs1811957623
NM_017780.4(CHD7):c.2238+1G>A rs1811957737
NM_017780.4(CHD7):c.2238+7C>T
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-20_2239-6del rs2150708627
NM_017780.4(CHD7):c.2239-4T>G
NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp) rs1320501538
NM_017780.4(CHD7):c.2246G>A (p.Arg749Gln) rs942764555
NM_017780.4(CHD7):c.2252G>A (p.Ser751Asn)
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.225T>G (p.Tyr75Ter)
NM_017780.4(CHD7):c.2260G>C (p.Val754Leu)
NM_017780.4(CHD7):c.2265G>A (p.Lys755=)
NM_017780.4(CHD7):c.2270A>G (p.Lys757Arg)
NM_017780.4(CHD7):c.2272C>T (p.Arg758Cys)
NM_017780.4(CHD7):c.2283A>G (p.Glu761=) rs1372243680
NM_017780.4(CHD7):c.2289_2290insT (p.Glu764Ter) rs2150708828
NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu)
NM_017780.4(CHD7):c.2295del (p.Phe765fs) rs1586350854
NM_017780.4(CHD7):c.2308G>C (p.Glu770Gln) rs2150708888
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del) rs761153051
NM_017780.4(CHD7):c.2321dup (p.Asp774fs) rs2150708918
NM_017780.4(CHD7):c.2327A>G (p.Asp776Gly)
NM_017780.4(CHD7):c.232C>T (p.Gln78Ter) rs2150577671
NM_017780.4(CHD7):c.2330C>T (p.Ala777Val)
NM_017780.4(CHD7):c.2333C>G (p.Ala778Gly)
NM_017780.4(CHD7):c.2345C>G (p.Ser782Cys) rs1812251287
NM_017780.4(CHD7):c.2347C>G (p.Pro783Ala) rs373873996
NM_017780.4(CHD7):c.2352dup (p.Asn785fs)
NM_017780.4(CHD7):c.235A>G (p.Lys79Glu) rs2150577685
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2376+4A>G rs864622519
NM_017780.4(CHD7):c.2376+8C>A rs1331200503
NM_017780.4(CHD7):c.2376+8C>T
NM_017780.4(CHD7):c.2376+9C>T rs2150709106
NM_017780.4(CHD7):c.2377-16A>G
NM_017780.4(CHD7):c.2377-17C>T rs1586352662
NM_017780.4(CHD7):c.2377-1G>A rs2150711063
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2377-8T>G rs777518407
NM_017780.4(CHD7):c.2377-9T>C
NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter)
NM_017780.4(CHD7):c.2391A>G (p.Ala797=)
NM_017780.4(CHD7):c.2396G>T (p.Gly799Val) rs1167408520
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
NM_017780.4(CHD7):c.2399C>T (p.Pro800Leu)
NM_017780.4(CHD7):c.239T>G (p.Met80Arg)
NM_017780.4(CHD7):c.2400A>C (p.Pro800=) rs1586352829
NM_017780.4(CHD7):c.2423G>A (p.Ser808Asn)
NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys) rs2150711196
NM_017780.4(CHD7):c.2426G>A (p.Arg809His) rs1313215076
NM_017780.4(CHD7):c.2426G>C (p.Arg809Pro) rs1313215076
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+10A>G
NM_017780.4(CHD7):c.2442+11T>C
NM_017780.4(CHD7):c.2442+12del
NM_017780.4(CHD7):c.2442+16G>A
NM_017780.4(CHD7):c.2442+1G>A rs1085307582
NM_017780.4(CHD7):c.2442+2449_2498+259del
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2442+7G>A
NM_017780.4(CHD7):c.2443-11T>G rs2150723881
NM_017780.4(CHD7):c.2443-8T>G
NM_017780.4(CHD7):c.2448A>G (p.Glu816=)
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2467A>G (p.Ile823Val)
NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr) rs1812629374
NM_017780.4(CHD7):c.247A>G (p.Met83Val) rs1809024182
NM_017780.4(CHD7):c.2495del (p.Asn832fs) rs2150723965
NM_017780.4(CHD7):c.2496C>T (p.Asn832=) rs1455553468
NM_017780.4(CHD7):c.2498+14G>C
NM_017780.4(CHD7):c.2498+15del
NM_017780.4(CHD7):c.2498+3A>G rs2150723994
NM_017780.4(CHD7):c.2499-10G>T rs1351318078
NM_017780.4(CHD7):c.2499-11T>A rs2150738863
NM_017780.4(CHD7):c.2499-17T>C
NM_017780.4(CHD7):c.2499-18A>G
NM_017780.4(CHD7):c.2499-19T>C
NM_017780.4(CHD7):c.2499-19del rs757104700
NM_017780.4(CHD7):c.2499-20A>G rs1803748923
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) rs121434344
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2503dup (p.Tyr835fs)
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2510A>G (p.His837Arg)
NM_017780.4(CHD7):c.2515C>T (p.Gln839Ter)
NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg) rs2150738931
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) rs1586379156
NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr)
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
NM_017780.4(CHD7):c.2558A>T (p.Gln853Leu)
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.257C>A (p.Pro86Gln) rs1355349547
NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter) rs2150739058
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg)
NM_017780.4(CHD7):c.2613+11C>T
NM_017780.4(CHD7):c.2613+19C>A
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2613+1G>T rs587783432
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2613+23del
NM_017780.4(CHD7):c.2613+8dup rs2150739145
NM_017780.4(CHD7):c.2613+9_2613+10dup
NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp) rs2150739129
NM_017780.4(CHD7):c.2614-11dup
NM_017780.4(CHD7):c.2614-14T>C
NM_017780.4(CHD7):c.2614-9T>C rs2150745067
NM_017780.4(CHD7):c.2615T>C (p.Ile872Thr)
NM_017780.4(CHD7):c.2625G>A (p.Glu875=) rs2150745168
NM_017780.4(CHD7):c.2626C>A (p.Leu876Ile)
NM_017780.4(CHD7):c.2626C>T (p.Leu876Phe) rs368156500
NM_017780.4(CHD7):c.262A>G (p.Arg88Gly) rs1015190633
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>A (p.Tyr881Ter)
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2662A>G (p.Met888Val)
NM_017780.4(CHD7):c.2670T>C (p.Phe890=)
NM_017780.4(CHD7):c.2672C>A (p.Ala891Glu)
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys) rs768961973
NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly)
NM_017780.4(CHD7):c.2681C>A (p.Thr894Lys)
NM_017780.4(CHD7):c.2684del (p.Asp895fs)
NM_017780.4(CHD7):c.2697+12T>C
NM_017780.4(CHD7):c.2697+7G>A
NM_017780.4(CHD7):c.2698-19T>G
NM_017780.4(CHD7):c.2698-9C>T
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) rs1586389286
NM_017780.4(CHD7):c.2707_2710del (p.His903fs) rs2150748709
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) rs1586389310
NM_017780.4(CHD7):c.2716G>A (p.Val906Met)
NM_017780.4(CHD7):c.2723G>A (p.Trp908Ter)
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) rs1554597381
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter) rs1804054410
NM_017780.4(CHD7):c.2730A>G (p.Ser910=)
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) rs886039881
NM_017780.4(CHD7):c.2755_2756delinsCG (p.Glu919Arg)
NM_017780.4(CHD7):c.2766G>A (p.Gln922=)
NM_017780.4(CHD7):c.2767dup (p.Asp923fs) rs1804056309
NM_017780.4(CHD7):c.2769C>T (p.Asp923=) rs1375498221
NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu)
NM_017780.4(CHD7):c.2775T>G (p.Asp925Glu) rs749781431
NM_017780.4(CHD7):c.2782A>G (p.Lys928Glu)
NM_017780.4(CHD7):c.2787C>A (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.2787C>G (p.Ile929Met) rs771367272
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.278C>A (p.Thr93Asn) rs1809027007
NM_017780.4(CHD7):c.278C>T (p.Thr93Ile) rs1809027007
NM_017780.4(CHD7):c.279C>T (p.Thr93=) rs2150577775
NM_017780.4(CHD7):c.27T>G (p.Leu9=)
NM_017780.4(CHD7):c.2805_2806insTT (p.Met936fs) rs2150748939
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp) rs1586389578
NM_017780.4(CHD7):c.281del (p.Pro94fs) rs1809027236
NM_017780.4(CHD7):c.2820_2822dup (p.Glu941_Thr942insGlu)
NM_017780.4(CHD7):c.2822A>C (p.Glu941Ala)
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.2834T>C (p.Val945Ala)
NM_017780.4(CHD7):c.2835+18G>A
NM_017780.4(CHD7):c.2835+18G>C rs143580627
NM_017780.4(CHD7):c.2835+1G>T
NM_017780.4(CHD7):c.2836-10T>A
NM_017780.4(CHD7):c.2836-13A>G rs757536080
NM_017780.4(CHD7):c.2836-16A>C
NM_017780.4(CHD7):c.2836-16A>G
NM_017780.4(CHD7):c.2836-1G>A rs1586389929
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.2849C>T (p.Ala950Val)
NM_017780.4(CHD7):c.2852A>T (p.Asp951Val) rs768456277
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.2868G>A (p.Ser956=)
NM_017780.4(CHD7):c.2872A>C (p.Ser958Arg)
NM_017780.4(CHD7):c.2872_2873del (p.Ser958fs)
NM_017780.4(CHD7):c.2880G>A (p.Arg960=)
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) rs1554597489
NM_017780.4(CHD7):c.2881del (p.Glu961fs) rs2150749363
NM_017780.4(CHD7):c.2898C>T (p.Asn966=)
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) rs1554597501
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)
NM_017780.4(CHD7):c.290G>A (p.Gly97Glu) rs1809028585
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.2914C>G (p.Gln972Glu)
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2916G>A (p.Gln972=)
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del) rs1804070388
NM_017780.4(CHD7):c.292C>T (p.Leu98Phe)
NM_017780.4(CHD7):c.2930del (p.Asn977fs)
NM_017780.4(CHD7):c.2948G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2949G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2951A>G (p.Tyr984Cys)
NM_017780.4(CHD7):c.2957+11C>G
NM_017780.4(CHD7):c.2957+15T>A
NM_017780.4(CHD7):c.2957+2T>C rs2150749475
NM_017780.4(CHD7):c.2957+5G>A rs1586390236
NM_017780.4(CHD7):c.2957+6T>A
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.2986G>A (p.Gly996Ser) rs1554597672
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser) rs2150750132
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.2991G>C (p.Leu997Phe) rs1804093530
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr) rs1809030198
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
NM_017780.4(CHD7):c.3001A>C (p.Ile1001Leu)
NM_017780.4(CHD7):c.3005A>T (p.Gln1002Leu) rs1223377243
NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys) rs1804094552
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3031T>C (p.Tyr1011His)
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=)
NM_017780.4(CHD7):c.3036G>C (p.Leu1012Phe) rs1804095307
NM_017780.4(CHD7):c.3039del (p.Gly1014fs) rs2150750228
NM_017780.4(CHD7):c.3041G>A (p.Gly1014Glu)
NM_017780.4(CHD7):c.305A>G (p.His102Arg)
NM_017780.4(CHD7):c.3061G>T (p.Val1021Leu)
NM_017780.4(CHD7):c.3069C>G (p.Ala1023=)
NM_017780.4(CHD7):c.306C>T (p.His102=) rs368111535
NM_017780.4(CHD7):c.3071C>T (p.Pro1024Leu)
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.3072A>G (p.Pro1024=) rs2150750309
NM_017780.4(CHD7):c.3073T>C (p.Leu1025=)
NM_017780.4(CHD7):c.3078C>T (p.Ser1026=)
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser) rs886041167
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del) rs1804098493
NM_017780.4(CHD7):c.309G>C (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) rs1586391319
NM_017780.4(CHD7):c.311A>G (p.Gln104Arg)
NM_017780.4(CHD7):c.3126C>A (p.Asn1042Lys) rs568551629
NM_017780.4(CHD7):c.312G>T (p.Gln104His)
NM_017780.4(CHD7):c.3130G>A (p.Val1044Ile) rs2150750448
NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr)
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln) rs750203389
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe)
NM_017780.4(CHD7):c.318C>T (p.His106=) rs2150577900
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg) rs771941657
NM_017780.4(CHD7):c.3198C>G (p.Pro1066=)
NM_017780.4(CHD7):c.3201+10C>T
NM_017780.4(CHD7):c.3201+16T>G
NM_017780.4(CHD7):c.3201+1G>A rs1804103264
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.3202-18T>C
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3202-6T>C
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3206G>C (p.Arg1069Pro)
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.320C>A (p.Thr107Asn)
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) rs1804153455
NM_017780.4(CHD7):c.322C>T (p.Pro108Ser)
NM_017780.4(CHD7):c.3237_3238insTAC (p.Ala1079_Ile1080insTyr) rs1804153900
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017780.4(CHD7):c.3267T>G (p.Thr1089=) rs1804154884
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
NM_017780.4(CHD7):c.327C>G (p.Pro109=)
NM_017780.4(CHD7):c.327C>T (p.Pro109=)
NM_017780.4(CHD7):c.3286A>C (p.Asn1096His)
NM_017780.4(CHD7):c.3288T>C (p.Asn1096=)
NM_017780.4(CHD7):c.328G>A (p.Val110Ile)
NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs)
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=) rs551443626
NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg) rs1586393514
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.3306A>G (p.Val1102=)
NM_017780.4(CHD7):c.3309_3310del (p.Val1103_Ile1104insTer) rs2150752540
NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer)
NM_017780.4(CHD7):c.3325A>G (p.Arg1109Gly)
NM_017780.4(CHD7):c.3336C>T (p.Asn1112=)
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.3351G>C (p.Leu1117=)
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.3367_3368dup (p.Met1123fs) rs1804158472
NM_017780.4(CHD7):c.3369dup (p.Met1124fs)
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) rs1804159058
NM_017780.4(CHD7):c.3378+14T>C
NM_017780.4(CHD7):c.3378+5G>C rs1554598029
NM_017780.4(CHD7):c.3378G>C (p.Leu1126Phe)
NM_017780.4(CHD7):c.3379-12G>C
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379-9T>A rs1586401989
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.337G>T (p.Val113Leu) rs2150577960
NM_017780.4(CHD7):c.3381A>G (p.Glu1127=) rs1015914018
NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)
NM_017780.4(CHD7):c.3394C>T (p.Leu1132=) rs769233218
NM_017780.4(CHD7):c.3395T>A (p.Leu1132Gln)
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) rs537533901
NM_017780.4(CHD7):c.3405C>T (p.Thr1135=) rs1427044855
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) rs1554599035
NM_017780.4(CHD7):c.3421G>A (p.Val1141Met)
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.3423G>A (p.Val1141=)
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.3464G>T (p.Arg1155Leu)
NM_017780.4(CHD7):c.3470del (p.Pro1157fs) rs1804367478
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
NM_017780.4(CHD7):c.3483A>C (p.Thr1161=)
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3492A>G (p.Gln1164=) rs1804368569
NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)
NM_017780.4(CHD7):c.3502G>A (p.Asp1168Asn) rs2150761332
NM_017780.4(CHD7):c.3504T>C (p.Asp1168=)
NM_017780.4(CHD7):c.3509A>G (p.Lys1170Arg) rs1804369175
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs) rs1804369315
NM_017780.4(CHD7):c.3517G>A (p.Glu1173Lys) rs2150761372
NM_017780.4(CHD7):c.351C>G (p.Gly117=)
NM_017780.4(CHD7):c.3522+11G>C rs1266763613
NM_017780.4(CHD7):c.3522+19T>C
NM_017780.4(CHD7):c.3522+1G>A rs1804369859
NM_017780.4(CHD7):c.3522+20T>C
NM_017780.4(CHD7):c.3522+20T>G rs577146364
NM_017780.4(CHD7):c.3522+4T>G
NM_017780.4(CHD7):c.3523-15A>G rs2150764543
NM_017780.4(CHD7):c.3523-19A>T
NM_017780.4(CHD7):c.3523-2A>C rs2150764574
NM_017780.4(CHD7):c.3523-42A>G
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.352_360del (p.Ser118_Gly120del)
NM_017780.4(CHD7):c.355G>C (p.Gly119Arg)
NM_017780.4(CHD7):c.3561G>A (p.Leu1187=)
NM_017780.4(CHD7):c.3565C>G (p.Arg1189Gly)
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His) rs1554599432
NM_017780.4(CHD7):c.356_359dup (p.Gly121fs) rs2150578004
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3576G>A (p.Glu1192=)
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
NM_017780.4(CHD7):c.3579T>C (p.Asp1193=)
NM_017780.4(CHD7):c.3591C>T (p.Asn1197=)
NM_017780.4(CHD7):c.3595G>T (p.Ala1199Ser)
NM_017780.4(CHD7):c.3600C>T (p.Pro1200=)
NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu) rs1804453835
NM_017780.4(CHD7):c.3602A>G (p.Lys1201Arg)
NM_017780.4(CHD7):c.3606A>G (p.Glu1202=)
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3616del (p.Ile1206fs) rs1804454376
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro) rs1804454889
NM_017780.4(CHD7):c.3642G>T (p.Gln1214His)
NM_017780.4(CHD7):c.3651T>C (p.Tyr1217=)
NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=) rs1563638250
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.3657A>T (p.Arg1219=)
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp) rs1181372363
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) rs886040989
NM_017780.4(CHD7):c.3678del (p.Phe1226fs) rs863224518
NM_017780.4(CHD7):c.3688T>G (p.Ser1230Ala)
NM_017780.4(CHD7):c.3688del (p.Ser1230fs)
NM_017780.4(CHD7):c.3695G>A (p.Gly1232Asp)
NM_017780.4(CHD7):c.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer) rs2150764898
NM_017780.4(CHD7):c.3698G>A (p.Gly1233Asp)
NM_017780.4(CHD7):c.36G>A (p.Glu12=)
NM_017780.4(CHD7):c.3705A>T (p.Gln1235His)
NM_017780.4(CHD7):c.3708T>C (p.Ala1236=) rs2150764981
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.3719A>C (p.Asn1240Thr)
NM_017780.4(CHD7):c.3757_3778+7del
NM_017780.4(CHD7):c.3764C>T (p.Pro1255Leu)
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) rs878855032
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) rs121434339
NM_017780.4(CHD7):c.3778+11C>T
NM_017780.4(CHD7):c.3778+19C>T
NM_017780.4(CHD7):c.3778+20G>A
NM_017780.4(CHD7):c.3778+20G>C
NM_017780.4(CHD7):c.3778+6G>A
NM_017780.4(CHD7):c.3778+8T>C
NM_017780.4(CHD7):c.3778+9G>T
NM_017780.4(CHD7):c.3779-10A>G rs886063035
NM_017780.4(CHD7):c.3779-13C>T
NM_017780.4(CHD7):c.3779-15G>A rs2150775393
NM_017780.4(CHD7):c.3779-18G>A rs2150775387
NM_017780.4(CHD7):c.3779-18G>C
NM_017780.4(CHD7):c.3779-19T>C
NM_017780.4(CHD7):c.3779-7T>G
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3804G>C (p.Glu1268Asp)
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3818del (p.His1273fs)
NM_017780.4(CHD7):c.3821A>G (p.Asn1274Ser)
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) rs864622150
NM_017780.4(CHD7):c.3840del (p.Gln1281fs)
NM_017780.4(CHD7):c.3843G>T (p.Gln1281His) rs745423641
NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter)
NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr)
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val) rs1586416413
NM_017780.4(CHD7):c.3852A>T (p.Ala1284=)
NM_017780.4(CHD7):c.3858C>A (p.Ile1286=)
NM_017780.4(CHD7):c.3858C>T (p.Ile1286=)
NM_017780.4(CHD7):c.3867T>A (p.Ala1289=)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3885T>A (p.Ile1295=)
NM_017780.4(CHD7):c.3900A>G (p.Pro1300=) rs2150775740
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) rs1563643394
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=) rs371595829
NM_017780.4(CHD7):c.3924G>A (p.Arg1308=)
NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro)
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.3950G>A (p.Arg1317His)
NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn) rs1809038190
NM_017780.4(CHD7):c.3963A>C (p.Ile1321=)
NM_017780.4(CHD7):c.3964C>G (p.Leu1322Val)
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)
NM_017780.4(CHD7):c.3989+11C>T rs2150775930
NM_017780.4(CHD7):c.3989+2T>G
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln) rs1060503186
NM_017780.4(CHD7):c.398_401del (p.Arg133fs)
NM_017780.4(CHD7):c.3990-10T>A
NM_017780.4(CHD7):c.3990-11A>T
NM_017780.4(CHD7):c.3990-1G>C
NM_017780.4(CHD7):c.3990-8T>C
NM_017780.4(CHD7):c.3990-9G>A
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) rs1586417729
NM_017780.4(CHD7):c.4001A>G (p.Glu1334Gly)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4020A>G (p.Val1340=)
NM_017780.4(CHD7):c.4028A>G (p.Asn1343Ser)
NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe) rs1478092831
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr) rs1804767147
NM_017780.4(CHD7):c.4056C>T (p.Phe1352=) rs2150777183
NM_017780.4(CHD7):c.406C>T (p.Gln136Ter)
NM_017780.4(CHD7):c.4073A>G (p.Asp1358Gly) rs2150777199
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp) rs1586417903
NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu)
NM_017780.4(CHD7):c.4092G>A (p.Leu1364=)
NM_017780.4(CHD7):c.4101G>A (p.Arg1367=)
NM_017780.4(CHD7):c.4119T>G (p.Ile1373Met)
NM_017780.4(CHD7):c.411C>G (p.Ser137=) rs1317598292
NM_017780.4(CHD7):c.4125C>T (p.Leu1375=)
NM_017780.4(CHD7):c.4139C>A (p.Thr1380Asn)
NM_017780.4(CHD7):c.4160A>G (p.Asp1387Gly)
NM_017780.4(CHD7):c.4162T>C (p.Trp1388Arg)
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=) rs907362259
NM_017780.4(CHD7):c.417G>A (p.Val139=) rs2150578159
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=) rs375867019
NM_017780.4(CHD7):c.4185+17G>A
NM_017780.4(CHD7):c.4185+1G>A rs1586418093
NM_017780.4(CHD7):c.4186-3C>G
NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr)
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) rs1586419356
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs) rs1804800490
NM_017780.4(CHD7):c.4216_4217del (p.Ser1406fs)
NM_017780.4(CHD7):c.4217G>A (p.Ser1406Asn)
NM_017780.4(CHD7):c.4218C>A (p.Ser1406Arg) rs1804800800
NM_017780.4(CHD7):c.421A>T (p.Ser141Cys)
NM_017780.4(CHD7):c.4224T>C (p.Ser1408=) rs2150778596
NM_017780.4(CHD7):c.4230A>G (p.Lys1410=)
NM_017780.4(CHD7):c.4236C>G (p.Tyr1412Ter)
NM_017780.4(CHD7):c.4245T>A (p.Ile1415=) rs2150778641
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)
NM_017780.4(CHD7):c.4259A>G (p.Tyr1420Cys)
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
NM_017780.4(CHD7):c.4261G>A (p.Glu1421Lys) rs2150778664
NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly) rs1804802453
NM_017780.4(CHD7):c.4281G>A (p.Lys1427=) rs2150778687
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) rs1586419497
NM_017780.4(CHD7):c.42G>A (p.Gly14=) rs1215319146
NM_017780.4(CHD7):c.4317A>G (p.Leu1439=)
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4324A>G (p.Met1442Val)
NM_017780.4(CHD7):c.4346C>T (p.Thr1449Ile)
NM_017780.4(CHD7):c.4353+12C>G
NM_017780.4(CHD7):c.4353+1G>T rs1804804514
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4353+4A>C rs1804804691
NM_017780.4(CHD7):c.4354-12T>G
NM_017780.4(CHD7):c.4354-1G>A rs2150779252
NM_017780.4(CHD7):c.4354-6A>G
NM_017780.4(CHD7):c.4354G>A (p.Val1452Ile)
NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter) rs2150779267
NM_017780.4(CHD7):c.4375G>T (p.Glu1459Ter)
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.4385A>G (p.Asp1462Gly)
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4394G>A (p.Arg1465Gln)
NM_017780.4(CHD7):c.4395A>G (p.Arg1465=)
NM_017780.4(CHD7):c.4404C>T (p.Ala1468=) rs1214452736
NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp)
NM_017780.4(CHD7):c.440C>T (p.Pro147Leu)
NM_017780.4(CHD7):c.4424del (p.Glu1475fs) rs1804819972
NM_017780.4(CHD7):c.442A>C (p.Arg148=)
NM_017780.4(CHD7):c.4439_4440insCCCC (p.Lys1481fs)
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
NM_017780.4(CHD7):c.4473C>T (p.Leu1491=)
NM_017780.4(CHD7):c.4474C>G (p.Leu1492Val)
NM_017780.4(CHD7):c.4476A>C (p.Leu1492=)
NM_017780.4(CHD7):c.4476A>G (p.Leu1492=)
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4505C>T (p.Ser1502Leu)
NM_017780.4(CHD7):c.4515A>G (p.Lys1505=)
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
NM_017780.4(CHD7):c.4524A>G (p.Thr1508=)
NM_017780.4(CHD7):c.4527T>G (p.Phe1509Leu)
NM_017780.4(CHD7):c.4533+10G>A
NM_017780.4(CHD7):c.4533+1G>A rs1586420419
NM_017780.4(CHD7):c.4533+7A>C
NM_017780.4(CHD7):c.4534-11T>C rs2150785971
NM_017780.4(CHD7):c.4534-12T>C
NM_017780.4(CHD7):c.4534-20C>A rs727503866
NM_017780.4(CHD7):c.4534-7T>G rs757333865
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) rs1554601592
NM_017780.4(CHD7):c.4542del (p.Phe1514fs) rs2150785999
NM_017780.4(CHD7):c.4573T>C (p.Leu1525=)
NM_017780.4(CHD7):c.4605T>C (p.Ala1535=)
NM_017780.4(CHD7):c.4613C>G (p.Ala1538Gly)
NM_017780.4(CHD7):c.4614T>C (p.Ala1538=) rs2150786158
NM_017780.4(CHD7):c.4627dup (p.Asp1543fs) rs2150786214
NM_017780.4(CHD7):c.462C>G (p.Asp154Glu)
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.4636A>C (p.Asn1546His)
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg) rs1563648680
NM_017780.4(CHD7):c.463C>T (p.Gln155Ter) rs1809042353
NM_017780.4(CHD7):c.4641G>C (p.Gly1547=)
NM_017780.4(CHD7):c.4644+11A>C
NM_017780.4(CHD7):c.4644+14C>A
NM_017780.4(CHD7):c.4644+15C>A
NM_017780.4(CHD7):c.4644+16C>T
NM_017780.4(CHD7):c.4644+1G>T
NM_017780.4(CHD7):c.4644+5G>C
NM_017780.4(CHD7):c.4644+9_4644+10insTTG rs1363820681
NM_017780.4(CHD7):c.4645-15C>G rs949803813
NM_017780.4(CHD7):c.4645-16C>T rs1487936420
NM_017780.4(CHD7):c.4645-1G>A
NM_017780.4(CHD7):c.4652del (p.Leu1551fs) rs1586426486
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.4664C>A (p.Thr1555Asn)
NM_017780.4(CHD7):c.4667dup (p.Arg1557fs) rs2150786530
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly) rs1804990594
NM_017780.4(CHD7):c.466A>C (p.Ile156Leu) rs2150578286
NM_017780.4(CHD7):c.466A>G (p.Ile156Val)
NM_017780.4(CHD7):c.4671A>G (p.Arg1557=) rs2150786548
NM_017780.4(CHD7):c.467T>A (p.Ile156Lys)
NM_017780.4(CHD7):c.4683G>A (p.Gln1561=)
NM_017780.4(CHD7):c.4686C>A (p.Thr1562=)
NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys)
NM_017780.4(CHD7):c.4698T>G (p.Ser1566Arg)
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4707G>A (p.Lys1569=)
NM_017780.4(CHD7):c.4721T>C (p.Met1574Thr)
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser)
NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe)
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter) rs1804993220
NM_017780.4(CHD7):c.473C>A (p.Ala158Asp)
NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu)
NM_017780.4(CHD7):c.4747del (p.Ser1583fs)
NM_017780.4(CHD7):c.4748C>T (p.Ser1583Phe)
NM_017780.4(CHD7):c.4757del (p.Lys1586fs)
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser) rs2150786767
NM_017780.4(CHD7):c.4775G>A (p.Arg1592Gln) rs1388750390
NM_017780.4(CHD7):c.4779T>C (p.Arg1593=)
NM_017780.4(CHD7):c.4779T>G (p.Arg1593=)
NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter)
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly) rs1057521078
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) rs1057521078
NM_017780.4(CHD7):c.478T>A (p.Tyr160Asn)
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.4796A>G (p.Gln1599Arg)
NM_017780.4(CHD7):c.4798G>A (p.Gly1600Ser) rs2150786873
NM_017780.4(CHD7):c.4800C>T (p.Gly1600=)
NM_017780.4(CHD7):c.4802A>T (p.Tyr1601Phe) rs2150786892
NM_017780.4(CHD7):c.4807A>C (p.Arg1603=)
NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter)
NM_017780.4(CHD7):c.481_482delinsAG (p.Gln161Arg) rs2150578323
NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=) rs1164615393
NM_017780.4(CHD7):c.4842dup (p.Val1615fs)
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.4850+11C>T
NM_017780.4(CHD7):c.4850+1G>A
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG rs2150787035
NM_017780.4(CHD7):c.4850+9G>T rs2150787043
NM_017780.4(CHD7):c.4850G>A (p.Gly1617Asp) rs1804999304
NM_017780.4(CHD7):c.4851-18T>C
NM_017780.4(CHD7):c.4851-4G>T
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.4853G>A (p.Trp1618Ter)
NM_017780.4(CHD7):c.4854G>T (p.Trp1618Cys) rs2150792862
NM_017780.4(CHD7):c.4857A>G (p.Gly1619=)
NM_017780.4(CHD7):c.4859G>T (p.Arg1620Leu)
NM_017780.4(CHD7):c.4860G>A (p.Arg1620=)
NM_017780.4(CHD7):c.4863G>A (p.Trp1621Ter)
NM_017780.4(CHD7):c.4879C>T (p.His1627Tyr)
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
NM_017780.4(CHD7):c.4886G>A (p.Arg1629His)
NM_017780.4(CHD7):c.4886G>C (p.Arg1629Pro)
NM_017780.4(CHD7):c.4888del (p.Tyr1630fs) rs2150792975
NM_017780.4(CHD7):c.4895G>A (p.Arg1632His)
NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu)
NM_017780.4(CHD7):c.4899A>T (p.Gln1633His)
NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter) rs2150793053
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.4917A>G (p.Val1639=)
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)
NM_017780.4(CHD7):c.4933del (p.Thr1645fs) rs2150793143
NM_017780.4(CHD7):c.4939C>A (p.Leu1647Met) rs913573032
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs) rs1805142029
NM_017780.4(CHD7):c.4951C>G (p.Leu1651Val)
NM_017780.4(CHD7):c.495_500dup (p.164_165QP[4]) rs758131874
NM_017780.4(CHD7):c.4964A>G (p.Lys1655Arg)
NM_017780.4(CHD7):c.4968G>A (p.Gly1656=)
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln) rs1805142705
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu) rs2150793254
NM_017780.4(CHD7):c.498_506del (p.167PQP[1])
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)
NM_017780.4(CHD7):c.499_516del (p.Pro167_Pro172del)
NM_017780.4(CHD7):c.5005A>C (p.Thr1669Pro)
NM_017780.4(CHD7):c.5022C>T (p.Gly1674=)
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln)
NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala) rs746011394
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg) rs921201693
NM_017780.4(CHD7):c.5043C>T (p.Asn1681=)
NM_017780.4(CHD7):c.5050+13C>T
NM_017780.4(CHD7):c.5050+17C>G rs907564726
NM_017780.4(CHD7):c.5050+17C>T
NM_017780.4(CHD7):c.5050+19G>A rs1371167281
NM_017780.4(CHD7):c.5050+1G>C rs1554602466
NM_017780.4(CHD7):c.5050+5G>T
NM_017780.4(CHD7):c.5050+7C>T rs2150793457
NM_017780.4(CHD7):c.5050+9C>G
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5051-17T>A
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5051-20T>A rs1394727727
NM_017780.4(CHD7):c.5051-4C>G rs71640288
NM_017780.4(CHD7):c.5051_5095del (p.Gly1684_Lys1699delinsGlu) rs2150793887
NM_017780.4(CHD7):c.5058A>G (p.Ser1686=) rs1586432209
NM_017780.4(CHD7):c.5062C>T (p.Pro1688Ser)
NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala) rs2150793920
NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn) rs1805156340
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
NM_017780.4(CHD7):c.5092G>A (p.Val1698Met)
NM_017780.4(CHD7):c.5092G>T (p.Val1698Leu) rs777744183
NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter)
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter) rs1805157634
NM_017780.4(CHD7):c.5114C>G (p.Pro1705Arg) rs373986410
NM_017780.4(CHD7):c.5114C>T (p.Pro1705Leu)
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5123A>G (p.Gln1708Arg)
NM_017780.4(CHD7):c.5124G>C (p.Gln1708His)
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg) rs2150578491
NM_017780.4(CHD7):c.5136G>C (p.Trp1712Cys)
NM_017780.4(CHD7):c.515C>T (p.Pro172Leu)
NM_017780.4(CHD7):c.5166C>T (p.Phe1722=)
NM_017780.4(CHD7):c.5167del (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.5180A>G (p.Tyr1727Cys)
NM_017780.4(CHD7):c.5181C>T (p.Tyr1727=)
NM_017780.4(CHD7):c.518C>T (p.Ala173Val)
NM_017780.4(CHD7):c.5199dup (p.His1734fs) rs863224856
NM_017780.4(CHD7):c.519del (p.Pro174fs) rs1809050272
NM_017780.4(CHD7):c.5202C>T (p.His1734=) rs1805162254
NM_017780.4(CHD7):c.5202del (p.Cys1735fs)
NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter)
NM_017780.4(CHD7):c.520C>T (p.Pro174Ser)
NM_017780.4(CHD7):c.5210+12G>C
NM_017780.4(CHD7):c.5210+14G>C rs570609542
NM_017780.4(CHD7):c.5210+16G>A
NM_017780.4(CHD7):c.5210+1G>A rs2150794309
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5210+5G>C
NM_017780.4(CHD7):c.5210+9T>G rs753589296
NM_017780.4(CHD7):c.5211-11T>G rs886063036
NM_017780.4(CHD7):c.5211-14G>A
NM_017780.4(CHD7):c.5211-16_5211-15del rs771116507
NM_017780.4(CHD7):c.5211-17T>A
NM_017780.4(CHD7):c.5211-18C>A
NM_017780.4(CHD7):c.5211-18C>G rs749368541
NM_017780.4(CHD7):c.5211-18C>T rs749368541
NM_017780.4(CHD7):c.5211-19C>G
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G rs1805310365
NM_017780.4(CHD7):c.5211-2_5227del rs1805310101
NM_017780.4(CHD7):c.5211-3del rs1586437092
NM_017780.4(CHD7):c.5215C>T (p.Leu1739=)
NM_017780.4(CHD7):c.5221C>T (p.Arg1741Cys)
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) rs886040994
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5241C>A (p.Tyr1747Ter)
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro) rs1586437186
NM_017780.4(CHD7):c.5250A>G (p.Gln1750=)
NM_017780.4(CHD7):c.5256G>A (p.Val1752=) rs1300830933
NM_017780.4(CHD7):c.5263G>C (p.Asp1755His) rs1805312207
NM_017780.4(CHD7):c.5265C>A (p.Asp1755Glu) rs2150800547
NM_017780.4(CHD7):c.5269G>A (p.Ala1757Thr)
NM_017780.4(CHD7):c.5272G>A (p.Asp1758Asn)
NM_017780.4(CHD7):c.5277G>A (p.Lys1759=)
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5291C>T (p.Ala1764Val)
NM_017780.4(CHD7):c.529C>T (p.Pro177Ser)
NM_017780.4(CHD7):c.5300+11G>A
NM_017780.4(CHD7):c.5300+12C>T
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
NM_017780.4(CHD7):c.5300+8C>A
NM_017780.4(CHD7):c.5300+9G>A
NM_017780.4(CHD7):c.5301-10T>G
NM_017780.4(CHD7):c.5301-17T>C rs768143056
NM_017780.4(CHD7):c.5301-3C>T
NM_017780.4(CHD7):c.530C>G (p.Pro177Arg)
NM_017780.4(CHD7):c.530C>T (p.Pro177Leu)
NM_017780.4(CHD7):c.531C>T (p.Pro177=)
NM_017780.4(CHD7):c.5327C>G (p.Pro1776Arg) rs759486970
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala) rs766416900
NM_017780.4(CHD7):c.5330T>G (p.Phe1777Cys)
NM_017780.4(CHD7):c.5330del (p.Phe1777fs) rs1805335711
NM_017780.4(CHD7):c.5333A>G (p.His1778Arg) rs764082970
NM_017780.4(CHD7):c.5337T>C (p.Ala1779=)
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=) rs2150801685
NM_017780.4(CHD7):c.5343T>C (p.Val1781=) rs886063037
NM_017780.4(CHD7):c.5345C>T (p.Pro1782Leu) rs891268640
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.5366A>G (p.Glu1789Gly)
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn) rs1554603283
NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=) rs559748498
NM_017780.4(CHD7):c.5384T>C (p.Leu1795Ser)
NM_017780.4(CHD7):c.5387T>C (p.Ile1796Thr)
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5389G>T (p.Gly1797Ter)
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter) rs1563560149
NM_017780.4(CHD7):c.5393T>A (p.Val1798Glu) rs1805341017
NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala)
NM_017780.4(CHD7):c.5397del (p.Phe1799fs)
NM_017780.4(CHD7):c.539A>G (p.Gln180Arg)
NM_017780.4(CHD7):c.53G>A (p.Ser18Asn) rs1280305079
NM_017780.4(CHD7):c.5400A>T (p.Lys1800Asn)
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) rs1131692039
NM_017780.4(CHD7):c.5401C>T (p.His1801Tyr) rs1131692039
NM_017780.4(CHD7):c.5403T>C (p.His1801=)
NM_017780.4(CHD7):c.5404+14C>T rs2150801886
NM_017780.4(CHD7):c.5404+2T>C
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5405-13G>A rs1131690787
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-18C>A rs199981784
NM_017780.4(CHD7):c.5405-2A>G rs1131692153
NM_017780.4(CHD7):c.5405-6G>A
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp) rs1805405695
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5414A>G (p.Lys1805Arg)
NM_017780.4(CHD7):c.5414_5422dup (p.Ser1808Ter) rs2150804625
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) rs121434340
NM_017780.4(CHD7):c.5420A>C (p.Asn1807Thr) rs1001632406
NM_017780.4(CHD7):c.5420A>G (p.Asn1807Ser)
NM_017780.4(CHD7):c.5423C>T (p.Ser1808Phe)
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5433T>C (p.Ala1811=)
NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu)
NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser)
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5452C>A (p.Leu1818Met)
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5464G>A (p.Gly1822Ser)
NM_017780.4(CHD7):c.546C>G (p.His182Gln)
NM_017780.4(CHD7):c.546C>T (p.His182=)
NM_017780.4(CHD7):c.5475T>A (p.Asp1825Glu)
NM_017780.4(CHD7):c.5480del (p.Lys1827fs)
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=)
NM_017780.4(CHD7):c.5499_5500del (p.Gly1835fs)
NM_017780.4(CHD7):c.54T>C (p.Ser18=) rs2150577330
NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) rs1586440620
NM_017780.4(CHD7):c.5512A>G (p.Met1838Val)
NM_017780.4(CHD7):c.5518G>C (p.Ala1840Pro)
NM_017780.4(CHD7):c.5520A>G (p.Ala1840=) rs2150804893
NM_017780.4(CHD7):c.5527G>A (p.Gly1843Ser) rs1563657571
NM_017780.4(CHD7):c.5533G>C (p.Gly1845Arg) rs753347128
NM_017780.4(CHD7):c.5534+19A>C
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
NM_017780.4(CHD7):c.5535-19T>C
NM_017780.4(CHD7):c.5535-20T>C rs1394659038
NM_017780.4(CHD7):c.5547T>G (p.Asp1849Glu)
NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs) rs2150805748
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.5553A>G (p.Glu1851=)
NM_017780.4(CHD7):c.555C>A (p.His185Gln)
NM_017780.4(CHD7):c.5568A>G (p.Glu1856=)
NM_017780.4(CHD7):c.5569T>C (p.Tyr1857His)
NM_017780.4(CHD7):c.5573A>T (p.Lys1858Ile)
NM_017780.4(CHD7):c.5574A>G (p.Lys1858=)
NM_017780.4(CHD7):c.5575C>A (p.Pro1859Thr)
NM_017780.4(CHD7):c.5578A>G (p.Thr1860Ala)
NM_017780.4(CHD7):c.557T>C (p.Met186Thr)
NM_017780.4(CHD7):c.557_558dup (p.Gln187fs) rs1809054571
NM_017780.4(CHD7):c.5585C>T (p.Thr1862Ile)
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln) rs753437069
NM_017780.4(CHD7):c.5589G>T (p.Pro1863=)
NM_017780.4(CHD7):c.5597A>G (p.Asp1866Gly) rs2150805872
NM_017780.4(CHD7):c.5607+13G>A
NM_017780.4(CHD7):c.5607+14T>C
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5607+6A>G
NM_017780.4(CHD7):c.5607+7A>G rs1805434580
NM_017780.4(CHD7):c.5608-10T>A
NM_017780.4(CHD7):c.5608-13C>G
NM_017780.4(CHD7):c.5608-20T>A
NM_017780.4(CHD7):c.5608-7T>G
NM_017780.4(CHD7):c.560A>G (p.Gln187Arg)
NM_017780.4(CHD7):c.5617A>G (p.Asn1873Asp) rs1403279129
NM_017780.4(CHD7):c.5625T>G (p.Pro1875=)
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5633A>T (p.Asp1878Val)
NM_017780.4(CHD7):c.5637G>A (p.Lys1879=)
NM_017780.4(CHD7):c.5638G>A (p.Glu1880Lys)
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5647A>G (p.Met1883Val)
NM_017780.4(CHD7):c.5655del (p.His1886fs)
NM_017780.4(CHD7):c.565A>T (p.Met189Leu) rs1809055199
NM_017780.4(CHD7):c.5665+13A>G rs2150806324
NM_017780.4(CHD7):c.5665+18C>G
NM_017780.4(CHD7):c.5665+1dup rs2150806303
NM_017780.4(CHD7):c.5665+7T>C
NM_017780.4(CHD7):c.5666-13dup
NM_017780.4(CHD7):c.5666-16T>G
NM_017780.4(CHD7):c.5666-18G>A
NM_017780.4(CHD7):c.5666-19T>C rs1805474762
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.5666-5C>T
NM_017780.4(CHD7):c.5666G>A (p.Gly1889Asp) rs1040512288
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) rs1554603818
NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter)
NM_017780.4(CHD7):c.5705A>G (p.Tyr1902Cys)
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) rs1131692325
NM_017780.4(CHD7):c.5707T>C (p.Trp1903Arg)
NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter)
NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn)
NM_017780.4(CHD7):c.5727G>A (p.Leu1909=) rs2150807633
NM_017780.4(CHD7):c.5735G>T (p.Arg1912Leu)
NM_017780.4(CHD7):c.5738T>C (p.Leu1913Pro) rs2150807679
NM_017780.4(CHD7):c.573C>G (p.Ser191Arg)
NM_017780.4(CHD7):c.5743C>T (p.Arg1915Trp) rs2150807703
NM_017780.4(CHD7):c.5744G>A (p.Arg1915Gln) rs1024600310
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.575A>G (p.Tyr192Cys) rs749792505
NM_017780.4(CHD7):c.5763G>A (p.Gln1921=) rs2150807756
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His)
NM_017780.4(CHD7):c.5778G>A (p.Arg1926=)
NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter)
NM_017780.4(CHD7):c.5784G>C (p.Gln1928His) rs2150807812
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp) rs773867024
NM_017780.4(CHD7):c.57A>C (p.Glu19Asp) rs1809004250
NM_017780.4(CHD7):c.5803A>C (p.Met1935Leu)
NM_017780.4(CHD7):c.5814C>A (p.Asp1938Glu) rs1805481811
NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly) rs992024213
NM_017780.4(CHD7):c.5815C>T (p.Arg1939Trp)
NM_017780.4(CHD7):c.5816G>C (p.Arg1939Pro)
NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly) rs752539596
NM_017780.4(CHD7):c.5825G>A (p.Arg1942Gln)
NM_017780.4(CHD7):c.5827C>T (p.Arg1943Trp)
NM_017780.4(CHD7):c.5831C>G (p.Pro1944Arg)
NM_017780.4(CHD7):c.5833C>A (p.Arg1945=) rs757160222
NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly) rs757160222
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5842G>A (p.Val1948Met)
NM_017780.4(CHD7):c.584dup (p.Gly196fs)
NM_017780.4(CHD7):c.5853_5855del (p.Glu1952del)
NM_017780.4(CHD7):c.5856A>C (p.Glu1952Asp) rs755290171
NM_017780.4(CHD7):c.5856A>T (p.Glu1952Asp)
NM_017780.4(CHD7):c.5869G>A (p.Ala1957Thr) rs1586443930
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer) rs2150808082
NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp)
NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln)
NM_017780.4(CHD7):c.5888G>T (p.Arg1963Leu)
NM_017780.4(CHD7):c.588G>C (p.Gly196=)
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
NM_017780.4(CHD7):c.5894+15G>T
NM_017780.4(CHD7):c.5894+1G>A
NM_017780.4(CHD7):c.5894+1G>T
NM_017780.4(CHD7):c.5894+5G>A rs1805486327
NM_017780.4(CHD7):c.5895-18A>G
NM_017780.4(CHD7):c.5895-18_5895-17insGA rs1805499097
NM_017780.4(CHD7):c.5895-2A>T rs2150808631
NM_017780.4(CHD7):c.5895-5A>T rs1805499680
NM_017780.4(CHD7):c.5895-8T>G rs1220156630
NM_017780.4(CHD7):c.5897G>A (p.Trp1966Ter)
NM_017780.4(CHD7):c.5898G>A (p.Trp1966Ter) rs2150808654
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs) rs2150808678
NM_017780.4(CHD7):c.5912del (p.Glu1971fs) rs2150808685
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) rs1586444410
NM_017780.4(CHD7):c.591T>C (p.Asp197=)
NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=) rs2150808715
NM_017780.4(CHD7):c.5926C>T (p.Arg1976Cys)
NM_017780.4(CHD7):c.5931G>A (p.Val1977=)
NM_017780.4(CHD7):c.5932del (p.Val1978fs) rs1805501026
NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro)
NM_017780.4(CHD7):c.5939C>A (p.Thr1980Asn)
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala) rs1805501302
NM_017780.4(CHD7):c.5952T>G (p.Ile1984Met)
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
NM_017780.4(CHD7):c.5961T>C (p.Pro1987=)
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) rs1554603970
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) rs768313777
NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu) rs1805502860
NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)
NM_017780.4(CHD7):c.5988A>G (p.Gln1996=) rs2150808862
NM_017780.4(CHD7):c.5995del (p.Ala1999fs)
NM_017780.4(CHD7):c.5C>A (p.Ala2Glu) rs1809000474
NM_017780.4(CHD7):c.6001G>A (p.Ala2001Thr)
NM_017780.4(CHD7):c.6026A>G (p.Glu2009Gly)
NM_017780.4(CHD7):c.6028A>G (p.Ser2010Gly)
NM_017780.4(CHD7):c.6033G>A (p.Leu2011=)
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val) rs1805504949
NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=)
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
NM_017780.4(CHD7):c.604C>A (p.Gln202Lys)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
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.6085C>A (p.Pro2029Thr) rs1805506718
NM_017780.4(CHD7):c.6090C>A (p.Val2030=) rs2150809096
NM_017780.4(CHD7):c.6103+19A>G
NM_017780.4(CHD7):c.6103+3A>G
NM_017780.4(CHD7):c.6103+9A>G rs1805508072
NM_017780.4(CHD7):c.6104-12del
NM_017780.4(CHD7):c.6104-2A>T rs1805513214
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) rs1131691420
NM_017780.4(CHD7):c.6117C>A (p.Leu2039=)
NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro)
NM_017780.4(CHD7):c.6135G>T (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6138C>T (p.Ile2046=) rs2150809518
NM_017780.4(CHD7):c.6147G>A (p.Glu2049=) rs2150809533
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6153C>T (p.Ala2051=) rs759326626
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6160A>G (p.Thr2054Ala) rs2150809564
NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) rs886039528
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val) rs1302545775
NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)
NM_017780.4(CHD7):c.6185G>A (p.Arg2062Gln)
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
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>C (p.Glu2066Gln)
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.619C>T (p.Gln207Ter)
NM_017780.4(CHD7):c.6208dup (p.His2070fs)
NM_017780.4(CHD7):c.6217C>T (p.Gln2073Ter) rs2150809777
NM_017780.4(CHD7):c.6231G>A (p.Arg2077=) rs1805526666
NM_017780.4(CHD7):c.6236del (p.Lys2079fs)
NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)
NM_017780.4(CHD7):c.6242del (p.Cys2081fs)
NM_017780.4(CHD7):c.6251G>A (p.Ser2084Asn)
NM_017780.4(CHD7):c.6261G>A (p.Leu2087=)
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter) rs1805529214
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys) rs2150809927
NM_017780.4(CHD7):c.6282A>T (p.Gly2094=)
NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp)
NM_017780.4(CHD7):c.6285G>T (p.Arg2095=)
NM_017780.4(CHD7):c.6286C>T (p.His2096Tyr)
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6289G>C (p.Asp2097His)
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6292del (p.Arg2098fs) rs1060499560
NM_017780.4(CHD7):c.6305T>G (p.Val2102Gly)
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) rs794727555
NM_017780.4(CHD7):c.630G>C (p.Met210Ile) rs560742342
NM_017780.4(CHD7):c.6321C>A (p.His2107Gln)
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6327C>T (p.Val2109=) rs2150810128
NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln)
NM_017780.4(CHD7):c.6341A>G (p.Tyr2114Cys)
NM_017780.4(CHD7):c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp) rs1805535866
NM_017780.4(CHD7):c.6348C>G (p.Ile2116Met)
NM_017780.4(CHD7):c.6349C>G (p.Leu2117Val)
NM_017780.4(CHD7):c.634C>T (p.Gln212Ter) rs2150578792
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.635del (p.Gln212fs) rs1586249038
NM_017780.4(CHD7):c.6369C>T (p.Ser2123=)
NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del)
NM_017780.4(CHD7):c.636G>T (p.Gln212His)
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_017780.4(CHD7):c.6371T>G (p.Phe2124Cys)
NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)
NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr) rs1162346018
NM_017780.4(CHD7):c.6379G>A (p.Ala2127Thr)
NM_017780.4(CHD7):c.6381A>G (p.Ala2127=)
NM_017780.4(CHD7):c.6383A>G (p.His2128Arg)
NM_017780.4(CHD7):c.6392T>G (p.Phe2131Cys)
NM_017780.4(CHD7):c.6393T>C (p.Phe2131=) rs2150810295
NM_017780.4(CHD7):c.6399A>G (p.Gln2133=)
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu) rs1563660814
NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser)
NM_017780.4(CHD7):c.6419_6423del (p.Thr2140fs)
NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr)
NM_017780.4(CHD7):c.6433C>T (p.Pro2145Ser)
NM_017780.4(CHD7):c.6435A>G (p.Pro2145=) rs1402557358
NM_017780.4(CHD7):c.6436C>T (p.Leu2146=) rs2150810421
NM_017780.4(CHD7):c.6439G>A (p.Ala2147Thr)
NM_017780.4(CHD7):c.643C>T (p.Gln215Ter) rs2150578812
NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly) rs966839733
NM_017780.4(CHD7):c.6446G>A (p.Gly2149Glu)
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6450T>A (p.Phe2150Leu)
NM_017780.4(CHD7):c.6456G>T (p.Gln2152His)
NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu) rs1805544418
NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser) rs1805544569
NM_017780.4(CHD7):c.6468C>G (p.Val2156=)
NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) rs886063039
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.6485T>G (p.Ile2162Ser)
NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys)
NM_017780.4(CHD7):c.6514G>T (p.Glu2172Ter) rs761214775
NM_017780.4(CHD7):c.651A>G (p.Gln217=)
NM_017780.4(CHD7):c.6521A>G (p.Lys2174Arg)
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.6531G>A (p.Glu2177=)
NM_017780.4(CHD7):c.6531dup (p.Pro2178fs) rs2150810800
NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly) rs1805551737
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met) rs749435288
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu) rs2150810874
NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter) rs1586446578
NM_017780.4(CHD7):c.6565G>A (p.Gly2189Ser)
NM_017780.4(CHD7):c.6570A>G (p.Lys2190=)
NM_017780.4(CHD7):c.6588C>T (p.Thr2196=)
NM_017780.4(CHD7):c.6594C>T (p.Gly2198=)
NM_017780.4(CHD7):c.6597C>T (p.Ser2199=)
NM_017780.4(CHD7):c.6598G>C (p.Gly2200Arg) rs747357928
NM_017780.4(CHD7):c.6598G>T (p.Gly2200Trp)
NM_017780.4(CHD7):c.6600G>A (p.Gly2200=) rs2150811019
NM_017780.4(CHD7):c.6603G>A (p.Lys2201=) rs1586446721
NM_017780.4(CHD7):c.6603G>C (p.Lys2201Asn)
NM_017780.4(CHD7):c.6607del (p.Ser2203fs)
NM_017780.4(CHD7):c.660C>T (p.Leu220=) rs1177262261
NM_017780.4(CHD7):c.6615G>C (p.Gln2205His)
NM_017780.4(CHD7):c.661A>G (p.Asn221Asp) rs979421697
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp) rs1398262614
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
NM_017780.4(CHD7):c.6639T>C (p.Ser2213=)
NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs) rs2150811163
NM_017780.4(CHD7):c.6653T>C (p.Leu2218Pro)
NM_017780.4(CHD7):c.665A>C (p.Gln222Pro)
NM_017780.4(CHD7):c.6672C>T (p.Gly2224=)
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter) rs1809060881
NM_017780.4(CHD7):c.6681T>G (p.Thr2227=)
NM_017780.4(CHD7):c.6685T>C (p.Ser2229Pro) rs1805566024
NM_017780.4(CHD7):c.6690A>G (p.Lys2230=)
NM_017780.4(CHD7):c.6692C>G (p.Ser2231Cys) rs554415600
NM_017780.4(CHD7):c.6693T>C (p.Ser2231=)
NM_017780.4(CHD7):c.669A>G (p.Gly223=)
NM_017780.4(CHD7):c.6704A>C (p.Lys2235Thr)
NM_017780.4(CHD7):c.6710C>A (p.Ser2237Tyr)
NM_017780.4(CHD7):c.671A>G (p.Asn224Ser) rs1809061303
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu) rs1805568530
NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs) rs2150811416
NM_017780.4(CHD7):c.6731A>G (p.Lys2244Arg)
NM_017780.4(CHD7):c.6734T>A (p.Leu2245Gln) rs2150811434
NM_017780.4(CHD7):c.6734T>C (p.Leu2245Pro)
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.6737dup (p.Asp2247fs) rs2150811446
NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu)
NM_017780.4(CHD7):c.6744C>T (p.Asp2248=)
NM_017780.4(CHD7):c.6752C>T (p.Ser2251Leu)
NM_017780.4(CHD7):c.6758A>G (p.Glu2253Gly) rs1805571750
NM_017780.4(CHD7):c.6758A>T (p.Glu2253Val)
NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu)
NM_017780.4(CHD7):c.6770C>T (p.Pro2257Leu) rs2150811546
NM_017780.4(CHD7):c.6771C>A (p.Pro2257=) rs367615733
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
NM_017780.4(CHD7):c.6775+19C>T
NM_017780.4(CHD7):c.6775+1G>A rs1805573066
NM_017780.4(CHD7):c.6775+1G>T rs1805573066
NM_017780.4(CHD7):c.6776-12C>T
NM_017780.4(CHD7):c.6776-13A>G rs2150813272
NM_017780.4(CHD7):c.6776-15T>G
NM_017780.4(CHD7):c.6776-1G>A
NM_017780.4(CHD7):c.6776-5C>A
NM_017780.4(CHD7):c.677T>A (p.Phe226Tyr)
NM_017780.4(CHD7):c.6780A>G (p.Gly2260=)
NM_017780.4(CHD7):c.6784G>C (p.Val2262Leu)
NM_017780.4(CHD7):c.6791G>C (p.Arg2264Thr)
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs) rs1805613575
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser) rs745361070
NM_017780.4(CHD7):c.6821C>T (p.Ala2274Val)
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6826A>G (p.Met2276Val)
NM_017780.4(CHD7):c.6826A>T (p.Met2276Leu)
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn)
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) rs1554604441
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.685A>C (p.Thr229Pro) rs767816305
NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=) rs2150813513
NM_017780.4(CHD7):c.6865A>G (p.Met2289Val)
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)
NM_017780.4(CHD7):c.6880C>A (p.Pro2294Thr) rs767696409
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser) rs767696409
NM_017780.4(CHD7):c.6883_6884insA (p.Ser2295fs)
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) rs1563662791
NM_017780.4(CHD7):c.6892C>G (p.Gln2298Glu) rs1057518891
NM_017780.4(CHD7):c.6894G>C (p.Gln2298His)
NM_017780.4(CHD7):c.6898C>A (p.Leu2300Ile)
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter) rs1809062715
NM_017780.4(CHD7):c.6908G>C (p.Arg2303Thr)
NM_017780.4(CHD7):c.690A>G (p.Ser230=) rs926628835
NM_017780.4(CHD7):c.6913T>C (p.Phe2305Leu)
NM_017780.4(CHD7):c.6918C>G (p.Ala2306=)
NM_017780.4(CHD7):c.6921C>T (p.Phe2307=)
NM_017780.4(CHD7):c.6923C>T (p.Ser2308Leu)
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.692G>C (p.Gly231Ala)
NM_017780.4(CHD7):c.6933T>C (p.Pro2311=)
NM_017780.4(CHD7):c.6935A>G (p.Lys2312Arg) rs2150813712
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6936+7A>T
NM_017780.4(CHD7):c.6936+9G>A
NM_017780.4(CHD7):c.6937-13C>T
NM_017780.4(CHD7):c.6937-19A>G
NM_017780.4(CHD7):c.6937-2A>G rs1586451506
NM_017780.4(CHD7):c.6938A>G (p.Asp2313Gly) rs1805682626
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) rs121434341
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly) rs1427557686
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
NM_017780.4(CHD7):c.6981G>A (p.Val2327=)
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg)
NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.6996G>T (p.Trp2332Cys) rs2129642460
NM_017780.4(CHD7):c.699C>T (p.Gly233=) rs2150578946
NM_017780.4(CHD7):c.6A>G (p.Ala2=) rs1331575367
NM_017780.4(CHD7):c.7000G>C (p.Val2334Leu)
NM_017780.4(CHD7):c.7006A>C (p.Arg2336=)
NM_017780.4(CHD7):c.7007G>A (p.Arg2336Lys) rs2129642540
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017780.4(CHD7):c.7015A>T (p.Met2339Leu) rs1184188163
NM_017780.4(CHD7):c.7038C>T (p.Ile2346=) rs2129642777
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7044T>G (p.Gly2348=) rs886063040
NM_017780.4(CHD7):c.7048A>G (p.Thr2350Ala)
NM_017780.4(CHD7):c.7062G>A (p.Val2354=)
NM_017780.4(CHD7):c.7065C>G (p.Asp2355Glu) rs2129643081
NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu)
NM_017780.4(CHD7):c.7078A>T (p.Lys2360Ter) rs1805694320
NM_017780.4(CHD7):c.7083G>A (p.Arg2361=) rs1325869967
NM_017780.4(CHD7):c.7083G>T (p.Arg2361Ser)
NM_017780.4(CHD7):c.708C>T (p.Ser236=) rs2150578971
NM_017780.4(CHD7):c.7090G>T (p.Ala2364Ser)
NM_017780.4(CHD7):c.7092T>C (p.Ala2364=) rs2129643396
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
NM_017780.4(CHD7):c.7097_7098delinsAT (p.Leu2366His)
NM_017780.4(CHD7):c.709C>T (p.His237Tyr)
NM_017780.4(CHD7):c.709del (p.His237fs) rs1809063870
NM_017780.4(CHD7):c.70C>T (p.Leu24Phe)
NM_017780.4(CHD7):c.7101C>T (p.Ser2367=)
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
NM_017780.4(CHD7):c.7109G>T (p.Gly2370Val) rs531223140
NM_017780.4(CHD7):c.7123del (p.Ser2375fs)
NM_017780.4(CHD7):c.712G>C (p.Val238Leu)
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.7144A>G (p.Thr2382Ala)
NM_017780.4(CHD7):c.7146G>T (p.Thr2382=)
NM_017780.4(CHD7):c.7155G>A (p.Gln2385=) rs867921812
NM_017780.4(CHD7):c.7157T>G (p.Leu2386Trp) rs2129644202
NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter) rs2129644242
NM_017780.4(CHD7):c.7164+14G>C
NM_017780.4(CHD7):c.7164+16T>C
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7165-16T>C
NM_017780.4(CHD7):c.7165-18G>A
NM_017780.4(CHD7):c.7165-1G>A
NM_017780.4(CHD7):c.7165-3T>C
NM_017780.4(CHD7):c.7165-4A>G rs1554604915
NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser)
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>G (p.Ser2395Cys)
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs) rs1586452701
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7193G>A (p.Arg2398His)
NM_017780.4(CHD7):c.719A>G (p.Gln240Arg) rs2150579002
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del) rs374380640
NM_017780.4(CHD7):c.7201A>T (p.Arg2401Trp) rs1805714852
NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter) rs1341064149
NM_017780.4(CHD7):c.7233C>A (p.Ala2411=)
NM_017780.4(CHD7):c.7238_7239delinsTT (p.Arg2413Ile)
NM_017780.4(CHD7):c.723G>C (p.Gln241His)
NM_017780.4(CHD7):c.7240G>A (p.Ala2414Thr)
NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe) rs1805719418
NM_017780.4(CHD7):c.7245C>T (p.Ala2415=)
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) rs1586452965
NM_017780.4(CHD7):c.7250G>A (p.Arg2417Lys) rs776169011
NM_017780.4(CHD7):c.7250G>C (p.Arg2417Thr)
NM_017780.4(CHD7):c.7250G>T (p.Arg2417Met)
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser) rs1805721790
NM_017780.4(CHD7):c.7258del (p.Leu2420fs)
NM_017780.4(CHD7):c.7262del (p.Met2421fs)
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val) rs1293236067
NM_017780.4(CHD7):c.7269G>A (p.Met2423Ile) rs2129648356
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
NM_017780.4(CHD7):c.7278G>C (p.Gln2426His)
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) rs886040997
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs) rs1805724910
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile) rs766091347
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.72C>G (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.72C>T (p.Leu24=) rs267601960
NM_017780.4(CHD7):c.7301C>G (p.Ser2434Ter)
NM_017780.4(CHD7):c.7307A>G (p.Asn2436Ser)
NM_017780.4(CHD7):c.7308T>A (p.Asn2436Lys)
NM_017780.4(CHD7):c.7310G>A (p.Gly2437Glu)
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7313A>G (p.Gln2438Arg)
NM_017780.4(CHD7):c.7314del (p.Glu2439fs)
NM_017780.4(CHD7):c.7320A>G (p.Lys2440=)
NM_017780.4(CHD7):c.7320del (p.Val2441fs) rs2129649243
NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly) rs2129649399
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) rs779776551
NM_017780.4(CHD7):c.7338G>T (p.Lys2446Asn)
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) rs1586453267
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) rs1586453329
NM_017780.4(CHD7):c.7357A>G (p.Ser2453Gly)
NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala)
NM_017780.4(CHD7):c.7377A>G (p.Ser2459=)
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del) rs2129650387
NM_017780.4(CHD7):c.7391A>G (p.Lys2464Arg)
NM_017780.4(CHD7):c.7394T>G (p.Phe2465Cys)
NM_017780.4(CHD7):c.7402C>T (p.Pro2468Ser)
NM_017780.4(CHD7):c.7434T>G (p.Phe2478Leu) rs2129651052
NM_017780.4(CHD7):c.7444A>G (p.Met2482Val)
NM_017780.4(CHD7):c.7446G>A (p.Met2482Ile)
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7455C>T (p.Leu2485=)
NM_017780.4(CHD7):c.7458A>G (p.Gln2486=) rs2129651419
NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)
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.746T>C (p.Leu249Ser)
NM_017780.4(CHD7):c.7470G>A (p.Ser2490=)
NM_017780.4(CHD7):c.7470G>C (p.Ser2490=) rs780608336
NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys)
NM_017780.4(CHD7):c.747G>A (p.Leu249=)
NM_017780.4(CHD7):c.7488T>C (p.His2496=) rs995534410
NM_017780.4(CHD7):c.7490T>C (p.Leu2497Pro)
NM_017780.4(CHD7):c.7491C>G (p.Leu2497=)
NM_017780.4(CHD7):c.7497T>C (p.Asn2499=) rs1026956983
NM_017780.4(CHD7):c.7499G>T (p.Gly2500Val)
NM_017780.4(CHD7):c.749G>A (p.Arg250His)
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676
NM_017780.4(CHD7):c.7504dup (p.Leu2502fs)
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln) rs1805738026
NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser) rs1805738363
NM_017780.4(CHD7):c.7530G>A (p.Lys2510=) rs1563665717
NM_017780.4(CHD7):c.7531A>G (p.Arg2511Gly)
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) rs1586453824
NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly) rs1805740102
NM_017780.4(CHD7):c.7569T>C (p.Asp2523=)
NM_017780.4(CHD7):c.756G>T (p.Ser252=)
NM_017780.4(CHD7):c.7585del (p.His2529fs) rs2129653634
NM_017780.4(CHD7):c.7586A>G (p.His2529Arg)
NM_017780.4(CHD7):c.7592G>A (p.Arg2531Gln)
NM_017780.4(CHD7):c.7593dup (p.Thr2532fs) rs1805743392
NM_017780.4(CHD7):c.7601T>C (p.Leu2534Ser)
NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn)
NM_017780.4(CHD7):c.7608+7dup
NM_017780.4(CHD7):c.7608+9G>T rs2129654194
NM_017780.4(CHD7):c.7609-12A>C
NM_017780.4(CHD7):c.7609-18A>G
NM_017780.4(CHD7):c.7609-7T>C rs745569961
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu) rs1554581354
NM_017780.4(CHD7):c.7612G>A (p.Asp2538Asn)
NM_017780.4(CHD7):c.7616C>T (p.Ala2539Val)
NM_017780.4(CHD7):c.7620G>A (p.Glu2540=) rs2129702757
NM_017780.4(CHD7):c.762G>A (p.Gln254=) rs2150579148
NM_017780.4(CHD7):c.7631C>T (p.Ala2544Val)
NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser) rs1805939500
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7650G>A (p.Glu2550=) rs1173503101
NM_017780.4(CHD7):c.7657C>T (p.Pro2553Ser)
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
NM_017780.4(CHD7):c.767T>A (p.Phe256Tyr) rs2150579155
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter) rs774255090
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) rs1046787337
NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter) rs1563669203
NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val)
NM_017780.4(CHD7):c.7692C>T (p.Asp2564=)
NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs) rs1805943625
NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln)
NM_017780.4(CHD7):c.7706T>C (p.Ile2569Thr)
NM_017780.4(CHD7):c.770A>G (p.His257Arg)
NM_017780.4(CHD7):c.7710del (p.Val2571fs) rs2129704530
NM_017780.4(CHD7):c.7711G>A (p.Val2571Ile) rs2129704568
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
NM_017780.4(CHD7):c.7713T>C (p.Val2571=)
NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)
NM_017780.4(CHD7):c.7717A>G (p.Asn2573Asp)
NM_017780.4(CHD7):c.7743G>A (p.Val2581=)
NM_017780.4(CHD7):c.7743G>C (p.Val2581=)
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu) rs1408626113
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7767G>A (p.Lys2589=) rs2129705530
NM_017780.4(CHD7):c.7776del (p.Glu2593fs)
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) rs748126701
NM_017780.4(CHD7):c.778C>A (p.Pro260Thr)
NM_017780.4(CHD7):c.7795C>T (p.Pro2599Ser) rs1805948281
NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)
NM_017780.4(CHD7):c.7798A>G (p.Thr2600Ala)
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
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.7804A>G (p.Thr2602Ala)
NM_017780.4(CHD7):c.7807G>A (p.Val2603Ile)
NM_017780.4(CHD7):c.780C>T (p.Pro260=) rs2150579200
NM_017780.4(CHD7):c.7810G>C (p.Asp2604His)
NM_017780.4(CHD7):c.7821T>C (p.Ser2607=)
NM_017780.4(CHD7):c.7824T>A (p.Tyr2608Ter)
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) rs1586460329
NM_017780.4(CHD7):c.7830+20G>A
NM_017780.4(CHD7):c.7830+5G>A
NM_017780.4(CHD7):c.7830+8T>C
NM_017780.4(CHD7):c.7831-12T>C
NM_017780.4(CHD7):c.7831-14T>C
NM_017780.4(CHD7):c.7831-17T>C rs777041721
NM_017780.4(CHD7):c.7831-20A>G
NM_017780.4(CHD7):c.7831-2A>G
NM_017780.4(CHD7):c.7831-5T>C rs770131922
NM_017780.4(CHD7):c.7834A>C (p.Asn2612His)
NM_017780.4(CHD7):c.7840_7841dup (p.Asp2614fs)
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala) rs1586462216
NM_017780.4(CHD7):c.7849T>C (p.Phe2617Leu)
NM_017780.4(CHD7):c.7855T>C (p.Ser2619Pro)
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn) rs1586462281
NM_017780.4(CHD7):c.7869G>A (p.Pro2623=) rs1338609969
NM_017780.4(CHD7):c.786T>C (p.Thr262=)
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.7892G>A (p.Arg2631Gln)
NM_017780.4(CHD7):c.789T>A (p.Ala263=)
NM_017780.4(CHD7):c.789T>C (p.Ala263=)
NM_017780.4(CHD7):c.7900A>G (p.Asn2634Asp)
NM_017780.4(CHD7):c.7913_7914del (p.Ile2638fs)
NM_017780.4(CHD7):c.7914A>C (p.Ile2638=)
NM_017780.4(CHD7):c.7925C>T (p.Thr2642Ile)
NM_017780.4(CHD7):c.7930_7934del (p.Glu2644fs)
NM_017780.4(CHD7):c.7936dup (p.Arg2646fs) rs2129721609
NM_017780.4(CHD7):c.7938G>C (p.Arg2646Ser)
NM_017780.4(CHD7):c.7940T>C (p.Val2647Ala)
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7956del (p.Lys2652fs) rs2129721740
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7959A>C (p.Arg2653=)
NM_017780.4(CHD7):c.7967del (p.Lys2656fs) rs2129721927
NM_017780.4(CHD7):c.7971+11G>A rs2129722219
NM_017780.4(CHD7):c.7971+15A>G
NM_017780.4(CHD7):c.7971+17G>T
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.7971+6C>G rs769103057
NM_017780.4(CHD7):c.7971+6C>T rs769103057
NM_017780.4(CHD7):c.7971+8C>T rs1295446479
NM_017780.4(CHD7):c.7972-8C>T
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs) rs1806048148
NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val)
NM_017780.4(CHD7):c.7993C>G (p.Pro2665Ala)
NM_017780.4(CHD7):c.7996A>G (p.Met2666Val) rs2129725268
NM_017780.4(CHD7):c.8004T>G (p.Asp2668Glu)
NM_017780.4(CHD7):c.8006dup (p.Pro2670fs) rs1586462917
NM_017780.4(CHD7):c.800A>G (p.Glu267Gly)
NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) rs1563670964
NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys) rs1586462940
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8045C>A (p.Ala2682Asp)
NM_017780.4(CHD7):c.8047C>G (p.Pro2683Ala)
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029
NM_017780.4(CHD7):c.8054G>A (p.Trp2685Ter)
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_017780.4(CHD7):c.8056A>G (p.Thr2686Ala)
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8064del (p.Ile2688fs) rs2129726316
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs) rs1806054045
NM_017780.4(CHD7):c.8076+14G>A rs1251720838
NM_017780.4(CHD7):c.8076+14G>T
NM_017780.4(CHD7):c.8076+16A>G rs1236099189
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017780.4(CHD7):c.8076+6T>C
NM_017780.4(CHD7):c.8077-10T>C
NM_017780.4(CHD7):c.8077-12C>T
NM_017780.4(CHD7):c.8077-17C>T
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G rs1806173195
NM_017780.4(CHD7):c.8077G>A (p.Gly2693Ser) rs1563673201
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) rs1563673201
NM_017780.4(CHD7):c.807del (p.Ala270fs) rs1586249559
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu)
NM_017780.4(CHD7):c.8094del (p.Met2699fs)
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.8105G>T (p.Arg2702Leu)
NM_017780.4(CHD7):c.8105dup (p.Leu2703fs)
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=) rs952299853
NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)
NM_017780.4(CHD7):c.8126T>C (p.Val2709Ala) rs1806175791
NM_017780.4(CHD7):c.8131G>A (p.Gly2711Arg)
NM_017780.4(CHD7):c.8131G>C (p.Gly2711Arg) rs1418830724
NM_017780.4(CHD7):c.8138G>A (p.Gly2713Glu)
NM_017780.4(CHD7):c.813C>G (p.His271Gln)
NM_017780.4(CHD7):c.8142G>A (p.Ala2714=)
NM_017780.4(CHD7):c.8146A>G (p.Arg2716Gly)
NM_017780.4(CHD7):c.8149A>C (p.Arg2717=) rs2129757721
NM_017780.4(CHD7):c.8164A>C (p.Lys2722Gln) rs1586467143
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu) rs1586467143
NM_017780.4(CHD7):c.8173A>G (p.Ile2725Val) rs113877656
NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
NM_017780.4(CHD7):c.8176G>T (p.Ala2726Ser)
NM_017780.4(CHD7):c.8177C>T (p.Ala2726Val)
NM_017780.4(CHD7):c.8178C>T (p.Ala2726=) rs2129758283
NM_017780.4(CHD7):c.8181A>G (p.Arg2727=)
NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr)
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser) rs757725468
NM_017780.4(CHD7):c.8184A>C (p.Ala2728=)
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) rs1806178855
NM_017780.4(CHD7):c.8189C>A (p.Ala2730Glu) rs779381935
NM_017780.4(CHD7):c.8189C>T (p.Ala2730Val) rs779381935
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr)
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr) rs1806179701
NM_017780.4(CHD7):c.8199T>C (p.Ala2733=) rs878855033
NM_017780.4(CHD7):c.81T>C (p.Cys27=)
NM_017780.4(CHD7):c.8202T>C (p.Ala2734=)
NM_017780.4(CHD7):c.8208C>T (p.Ala2736=) rs1346132011
NM_017780.4(CHD7):c.8209T>A (p.Ser2737Thr)
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)
NM_017780.4(CHD7):c.8228C>G (p.Pro2743Arg)
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser) rs1806181643
NM_017780.4(CHD7):c.8236G>A (p.Val2746Met)
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser) rs1586467380
NM_017780.4(CHD7):c.8244C>G (p.Ser2748Arg)
NM_017780.4(CHD7):c.8255G>T (p.Gly2752Val)
NM_017780.4(CHD7):c.8262C>G (p.Asp2754Glu) rs1369699481
NM_017780.4(CHD7):c.8262C>T (p.Asp2754=)
NM_017780.4(CHD7):c.8274T>C (p.Leu2758=) rs903775787
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) rs747665912
NM_017780.4(CHD7):c.8278AATCTCCAG[3] (p.2760NLQ[3]) rs747665912
NM_017780.4(CHD7):c.8283C>T (p.Leu2761=)
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu) rs1286287151
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His) rs758898311
NM_017780.4(CHD7):c.8292C>G (p.Leu2764=) rs1196717284
NM_017780.4(CHD7):c.829C>G (p.Pro277Ala)
NM_017780.4(CHD7):c.8304G>C (p.Gln2768His)
NM_017780.4(CHD7):c.8307G>A (p.Leu2769=)
NM_017780.4(CHD7):c.8308G>A (p.Ala2770Thr)
NM_017780.4(CHD7):c.830C>T (p.Pro277Leu)
NM_017780.4(CHD7):c.8310A>G (p.Ala2770=)
NM_017780.4(CHD7):c.8314C>T (p.Leu2772Phe)
NM_017780.4(CHD7):c.8317A>G (p.Met2773Val)
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.831G>T (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.8320G>A (p.Gly2774Ser)
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) rs773045619
NM_017780.4(CHD7):c.8329C>A (p.Pro2777Thr)
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg) rs1586467620
NM_017780.4(CHD7):c.8352C>T (p.Thr2784=)
NM_017780.4(CHD7):c.8359G>A (p.Gly2787Ser)
NM_017780.4(CHD7):c.8360del (p.Gly2787fs) rs2129761877
NM_017780.4(CHD7):c.8362G>A (p.Asp2788Asn)
NM_017780.4(CHD7):c.8383G>A (p.Val2795Met)
NM_017780.4(CHD7):c.838C>T (p.Pro280Ser)
NM_017780.4(CHD7):c.8391C>G (p.Pro2797=)
NM_017780.4(CHD7):c.8391C>T (p.Pro2797=)
NM_017780.4(CHD7):c.83G>A (p.Gly28Asp) rs1809007164
NM_017780.4(CHD7):c.8407A>G (p.Met2803Val) rs2129762926
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val) rs770781688
NM_017780.4(CHD7):c.8413G>T (p.Gly2805Cys) rs759567393
NM_017780.4(CHD7):c.8416del (p.Leu2806fs)
NM_017780.4(CHD7):c.841C>T (p.Gln281Ter) rs2150579361
NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr) rs368224943
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe) rs755563758
NM_017780.4(CHD7):c.8439C>G (p.Gly2813=)
NM_017780.4(CHD7):c.8442G>A (p.Gly2814=)
NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys)
NM_017780.4(CHD7):c.8454C>T (p.Asn2818=)
NM_017780.4(CHD7):c.8456del (p.Pro2819fs) rs2129764240
NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs) rs886040962
NM_017780.4(CHD7):c.8467G>T (p.Ala2823Ser)
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)
NM_017780.4(CHD7):c.8474G>T (p.Gly2825Val)
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro) rs1373512004
NM_017780.4(CHD7):c.847G>A (p.Gly283Arg)
NM_017780.4(CHD7):c.8481C>T (p.Thr2827=) rs1249032872
NM_017780.4(CHD7):c.8482A>G (p.Thr2828Ala)
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)
NM_017780.4(CHD7):c.8510A>G (p.Glu2837Gly)
NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn)
NM_017780.4(CHD7):c.8538_8549dup (p.Lys2846_Glu2849dup) rs2129765422
NM_017780.4(CHD7):c.853G>A (p.Val285Ile)
NM_017780.4(CHD7):c.8546del (p.Glu2849fs) rs2129765592
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.854T>C (p.Val285Ala)
NM_017780.4(CHD7):c.8550T>G (p.Asn2850Lys)
NM_017780.4(CHD7):c.8553A>G (p.Glu2851=) rs2129765778
NM_017780.4(CHD7):c.8554G>A (p.Asp2852Asn)
NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)
NM_017780.4(CHD7):c.8571T>C (p.Ser2857=)
NM_017780.4(CHD7):c.8574G>A (p.Glu2858=) rs1806203830
NM_017780.4(CHD7):c.8579G>A (p.Ser2860Asn) rs2129766206
NM_017780.4(CHD7):c.8590G>C (p.Val2864Leu)
NM_017780.4(CHD7):c.8599G>A (p.Ala2867Thr) rs2129766536
NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)
NM_017780.4(CHD7):c.8609C>T (p.Ala2870Val)
NM_017780.4(CHD7):c.8610G>C (p.Ala2870=)
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8615G>C (p.Gly2872Ala)
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) rs1586468521
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe)
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) rs1554581399
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8640G>T (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8645G>T (p.Gly2882Val) rs2129767368
NM_017780.4(CHD7):c.8646A>T (p.Gly2882=) rs1586468596
NM_017780.4(CHD7):c.8662C>T (p.Leu2888=) rs1017895981
NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)
NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile) rs202039728
NM_017780.4(CHD7):c.867C>A (p.Thr289=)
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) rs1563674576
NM_017780.4(CHD7):c.868C>G (p.Leu290Val)
NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile) rs2129768305
NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln) rs780993039
NM_017780.4(CHD7):c.8700G>A (p.Pro2900=)
NM_017780.4(CHD7):c.8713C>T (p.Pro2905Ser)
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) rs886041000
NM_017780.4(CHD7):c.8739G>C (p.Leu2913=) rs746128427
NM_017780.4(CHD7):c.8739G>T (p.Leu2913=)
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val)
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313
NM_017780.4(CHD7):c.8752C>T (p.Leu2918=) rs1465616826
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017780.4(CHD7):c.8775A>C (p.Ala2925=)
NM_017780.4(CHD7):c.8776G>A (p.Gly2926Arg) rs1806214950
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser) rs1586469053
NM_017780.4(CHD7):c.878G>A (p.Ser293Asn) rs1809079469
NM_017780.4(CHD7):c.8791G>C (p.Val2931Leu)
NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly) rs1024326558
NM_017780.4(CHD7):c.8805A>G (p.Glu2935=) rs1563674855
NM_017780.4(CHD7):c.8818G>A (p.Asp2940Asn)
NM_017780.4(CHD7):c.881C>G (p.Ser294Cys)
NM_017780.4(CHD7):c.8823G>A (p.Lys2941=)
NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu)
NM_017780.4(CHD7):c.8836C>A (p.Pro2946Thr)
NM_017780.4(CHD7):c.8837C>A (p.Pro2946His)
NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)
NM_017780.4(CHD7):c.8842A>G (p.Lys2948Glu) rs1467824778
NM_017780.4(CHD7):c.8846A>T (p.Asp2949Val)
NM_017780.4(CHD7):c.8869G>A (p.Asp2957Asn)
NM_017780.4(CHD7):c.8871T>C (p.Asp2957=)
NM_017780.4(CHD7):c.8873C>T (p.Ala2958Val) rs2129771571
NM_017780.4(CHD7):c.8875G>A (p.Glu2959Lys)
NM_017780.4(CHD7):c.8879_8881dup (p.Glu2960_Ser2961insLys)
NM_017780.4(CHD7):c.8883C>T (p.Ser2961=)
NM_017780.4(CHD7):c.8892G>A (p.Lys2964=) rs375867350
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) rs1586249808
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys)
NM_017780.4(CHD7):c.892A>C (p.Thr298Pro)
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8933G>A (p.Gly2978Asp)
NM_017780.4(CHD7):c.8933G>C (p.Gly2978Ala)
NM_017780.4(CHD7):c.8933G>T (p.Gly2978Val)
NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu)
NM_017780.4(CHD7):c.8949A>G (p.Ser2983=)
NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
NM_017780.4(CHD7):c.8953G>T (p.Asp2985Tyr)
NM_017780.4(CHD7):c.8957G>A (p.Gly2986Glu)
NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val) rs374004489
NM_017780.4(CHD7):c.895G>T (p.Val299Phe)
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.8976C>T (p.Asn2992=)
NM_017780.4(CHD7):c.897C>T (p.Val299=)
NM_017780.4(CHD7):c.8984A>G (p.Asn2995Ser)
NM_017780.4(CHD7):c.901T>C (p.Ser301Pro)
NM_017780.4(CHD7):c.902C>T (p.Ser301Phe)
NM_017780.4(CHD7):c.907A>G (p.Thr303Ala)
NM_017780.4(CHD7):c.91G>T (p.Glu31Ter)
NM_017780.4(CHD7):c.924G>T (p.Gly308=)
NM_017780.4(CHD7):c.925C>A (p.Gln309Lys)
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_017780.4(CHD7):c.926A>G (p.Gln309Arg)
NM_017780.4(CHD7):c.927_928del (p.Tyr310fs)
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017780.4(CHD7):c.935G>C (p.Arg312Pro)
NM_017780.4(CHD7):c.940C>A (p.Pro314Thr)
NM_017780.4(CHD7):c.944A>G (p.Tyr315Cys)
NM_017780.4(CHD7):c.951C>T (p.Asn317=) rs770785044
NM_017780.4(CHD7):c.967G>A (p.Val323Ile)
NM_017780.4(CHD7):c.973A>C (p.Asn325His) rs1563561089
NM_017780.4(CHD7):c.980G>A (p.Gly327Glu) rs1809088428
NM_017780.4(CHD7):c.982A>T (p.Met328Leu) rs747112804
NM_017780.4(CHD7):c.988C>A (p.Gln330Lys)
NM_017780.4(CHD7):c.996A>G (p.Leu332=)

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