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_017780.3(CHD7):c.*2104T>A
|
rs16926520
|
0.11399
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_017780.4(CHD7):c.8076+157_8076+158insTCTTACATC
|
rs71559310
|
0.02082
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_017780.4(CHD7):c.5405-299T>C
|
rs16926501
|
0.01302
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_017780.4(CHD7):c.5211-251C>A
|
rs76858382
|
0.00929
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_017780.4(CHD7):c.3523-336T>C
|
rs79727252
|
0.00831
|
NM_017780.4(CHD7):c.2239-311C>A
|
rs114962047
|
0.00824
|
NM_017780.4(CHD7):c.2097-311G>A
|
rs140049261
|
0.00816
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_017780.4(CHD7):c.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.3778+257G>A
|
rs115115541
|
0.00533
|
NM_017780.4(CHD7):c.2698-183T>G
|
rs190121386
|
0.00531
|
NM_017780.4(CHD7):c.6775+142G>A
|
rs59181511
|
0.00526
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_017780.4(CHD7):c.2443-307G>C
|
rs116301551
|
0.00501
|
NM_017780.4(CHD7):c.5666-158T>C
|
rs79853029
|
0.00483
|
NM_017780.4(CHD7):c.6775+128T>G
|
rs146636024
|
0.00483
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00482
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
NM_017780.4(CHD7):c.3379-33A>G
|
rs45461501
|
0.00473
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_017780.4(CHD7):c.1665+269G>C
|
rs73251122
|
0.00468
|
NM_017780.4(CHD7):c.5405-254T>C
|
rs143616373
|
0.00456
|
NM_017780.4(CHD7):c.2698-163T>C
|
rs140419337
|
0.00437
|
NM_017780.4(CHD7):c.2613+217G>T
|
rs369430731
|
0.00372
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_017780.4(CHD7):c.2376+57C>A
|
rs184802461
|
0.00333
|
NM_017780.4(CHD7):c.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.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.5051-25A>G
|
rs185141793
|
0.00153
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
NM_017780.4(CHD7):c.-230G>C
|
rs886063030
|
0.00124
|
NM_017780.4(CHD7):c.*1116C>G
|
rs45504193
|
0.00117
|
NM_017780.4(CHD7):c.*1143A>G
|
rs45573835
|
0.00117
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_017780.4(CHD7):c.*1123G>A
|
rs77847411
|
0.00094
|
NM_017780.4(CHD7):c.6989G>C (p.Gly2330Ala)
|
rs77704609
|
0.00094
|
NM_017780.4(CHD7):c.6990C>T (p.Gly2330=)
|
rs559382275
|
0.00094
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_017780.4(CHD7):c.2835+24A>T
|
rs201381395
|
0.00081
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
NM_017780.4(CHD7):c.*251T>C
|
rs529121143
|
0.00068
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_017780.4(CHD7):c.5300+8C>T
|
rs151322460
|
0.00055
|
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)
|
rs374877439
|
0.00051
|
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)
|
rs202020722
|
0.00048
|
NM_017780.4(CHD7):c.3202-42T>C
|
rs375663839
|
0.00047
|
NM_017780.4(CHD7):c.360C>T (p.Gly120=)
|
rs375438732
|
0.00043
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)
|
rs201653177
|
0.00033
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln)
|
rs185505138
|
0.00030
|
NM_017780.4(CHD7):c.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.2697+30G>A
|
rs372108679
|
0.00026
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser)
|
rs201470035
|
0.00024
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319
|
0.00023
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00021
|
NM_017780.4(CHD7):c.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.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
NM_017780.4(CHD7):c.843A>G (p.Gln281=)
|
rs764411605
|
0.00016
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)
|
rs375204972
|
0.00015
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
NM_017780.4(CHD7):c.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.4851-31C>T
|
rs149348445
|
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.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.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.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.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.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.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.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.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.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.1562C>T (p.Pro521Leu)
|
rs373211059
|
0.00005
|
NM_017780.4(CHD7):c.2675G>A (p.Arg892His)
|
rs200188105
|
0.00005
|
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln)
|
rs767390470
|
0.00005
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
NM_017780.4(CHD7):c.4416C>A (p.Leu1472=)
|
rs546733576
|
0.00005
|
NM_017780.4(CHD7):c.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.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.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.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.2472G>A (p.Glu824=)
|
rs746946074
|
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.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.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.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.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.6577G>A (p.Glu2193Lys)
|
rs918223900
|
0.00004
|
NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn)
|
rs772379262
|
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.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.8874C>T (p.Ala2958=)
|
rs377755006
|
0.00004
|
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=)
|
rs368038649
|
0.00004
|
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.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.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.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.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.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.8802C>T (p.Ser2934=)
|
rs778908675
|
0.00003
|
NM_017780.4(CHD7):c.1053A>G (p.Val351=)
|
rs199880694
|
0.00002
|
NM_017780.4(CHD7):c.208G>C (p.Asp70His)
|
rs759847780
|
0.00002
|
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile)
|
rs552946889
|
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.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.3051C>A (p.Gly1017=)
|
rs1804096179
|
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.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.4629T>C (p.Asp1543=)
|
rs757379662
|
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.5016G>A (p.Ala1672=)
|
rs370321135
|
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.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.6199C>G (p.Gln2067Glu)
|
rs766862122
|
0.00002
|
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val)
|
rs369433978
|
0.00002
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
NM_017780.4(CHD7):c.7009C>T (p.Arg2337Cys)
|
rs765610436
|
0.00002
|
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=)
|
rs572098274
|
0.00002
|
NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu)
|
rs373370399
|
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.7678C>T (p.Pro2560Ser)
|
rs748036782
|
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.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.8855C>G (p.Thr2952Ser)
|
rs748655442
|
0.00002
|
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr)
|
rs747263275
|
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.1310A>G (p.His437Arg)
|
rs746261185
|
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.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.1626A>G (p.Pro542=)
|
rs747791210
|
0.00001
|
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)
|
rs778361949
|
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.2175A>G (p.Ser725=)
|
rs1471731176
|
0.00001
|
NM_017780.4(CHD7):c.2184C>A (p.Asp728Glu)
|
rs771267153
|
0.00001
|
NM_017780.4(CHD7):c.2377-13C>A
|
rs747682287
|
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.2665G>A (p.Asp889Asn)
|
rs1330677850
|
0.00001
|
NM_017780.4(CHD7):c.2697+20A>G
|
rs759236343
|
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.2839C>A (p.Arg947=)
|
rs200220845
|
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.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.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.3270T>C (p.Asp1090=)
|
rs753213307
|
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.3525G>A (p.Val1175=)
|
rs1804451207
|
0.00001
|
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=)
|
rs748869169
|
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.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.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.4644+20C>T
|
rs1168248095
|
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.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.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.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.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.5404+10G>A
|
rs780602451
|
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.5442G>A (p.Ala1814=)
|
rs558567843
|
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.5735G>A (p.Arg1912His)
|
rs767326758
|
0.00001
|
NM_017780.4(CHD7):c.577A>G (p.Met193Val)
|
rs542672517
|
0.00001
|
NM_017780.4(CHD7):c.5811T>C (p.Thr1937=)
|
rs370573809
|
0.00001
|
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=)
|
rs1448374029
|
0.00001
|
NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly)
|
rs1360515765
|
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.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.6284G>A (p.Arg2095Gln)
|
rs773114816
|
0.00001
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
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.6624G>A (p.Glu2208=)
|
rs762541154
|
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.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln)
|
rs542880173
|
0.00001
|
NM_017780.4(CHD7):c.6936+19C>G
|
rs1410303595
|
0.00001
|
NM_017780.4(CHD7):c.6937-8C>T
|
rs765520430
|
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.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.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.7380T>G (p.Ser2460=)
|
rs1259500954
|
0.00001
|
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg)
|
rs759887905
|
0.00001
|
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro)
|
rs769178123
|
0.00001
|
NM_017780.4(CHD7):c.7416A>G (p.Thr2472=)
|
rs769395535
|
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.7681G>A (p.Gly2561Arg)
|
rs774255090
|
0.00001
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
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.794A>G (p.His265Arg)
|
rs779427012
|
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.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.813C>T (p.His271=)
|
rs773253450
|
0.00001
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
NM_017780.4(CHD7):c.817C>T (p.Pro273Ser)
|
rs1284559737
|
0.00001
|
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=)
|
rs747420884
|
0.00001
|
NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr)
|
rs935815422
|
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.8425G>A (p.Val2809Met)
|
rs763048936
|
0.00001
|
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg)
|
rs964405365
|
0.00001
|
NM_017780.4(CHD7):c.8556C>T (p.Asp2852=)
|
rs794727604
|
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.8751G>C (p.Thr2917=)
|
rs761033941
|
0.00001
|
NM_017780.4(CHD7):c.8769A>G (p.Ala2923=)
|
rs777029638
|
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.938A>G (p.Tyr313Cys)
|
rs1472626804
|
0.00001
|
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg)
|
rs763572916
|
0.00001
|
NM_017780.4(CHD7):c.993T>C (p.Asn331=)
|
rs892600312
|
0.00001
|
GRCh37/hg19 8q12.2(chr8:61729070-61729213)x1
|
|
|
NM_017780.4(CHD7):c.*6_*17del
|
|
|
NM_017780.4(CHD7):c.-174-308G>A
|
rs74350073
|
|
NM_017780.4(CHD7):c.102A>G (p.Val34=)
|
rs1170310957
|
|
NM_017780.4(CHD7):c.1035A>C (p.Pro345=)
|
|
|
NM_017780.4(CHD7):c.1077A>G (p.Gln359=)
|
rs1809095852
|
|
NM_017780.4(CHD7):c.1092G>A (p.Gln364=)
|
rs1430411532
|
|
NM_017780.4(CHD7):c.1095G>C (p.Gln365His)
|
|
|
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.1173C>G (p.Ala391=)
|
rs2150580271
|
|
NM_017780.4(CHD7):c.1179A>T (p.Pro393=)
|
rs111238892
|
|
NM_017780.4(CHD7):c.1191A>C (p.Ser397=)
|
rs1586250706
|
|
NM_017780.4(CHD7):c.1205T>C (p.Met402Thr)
|
rs775931738
|
|
NM_017780.4(CHD7):c.1233A>G (p.Pro411=)
|
rs1809107487
|
|
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.1311C>T (p.His437=)
|
|
|
NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser)
|
rs772369092
|
|
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.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
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.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.1475A>G (p.Gln492Arg)
|
|
|
NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr)
|
|
|
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg)
|
rs1465792260
|
|
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.1581T>C (p.Ser527=)
|
|
|
NM_017780.4(CHD7):c.1632C>G (p.Pro544=)
|
rs45536935
|
|
NM_017780.4(CHD7):c.1632C>T (p.Pro544=)
|
|
|
NM_017780.4(CHD7):c.1653G>A (p.Val551=)
|
|
|
NM_017780.4(CHD7):c.165T>C (p.His55=)
|
|
|
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+20A>C
|
|
|
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
|
|
|
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
|
|
|
NM_017780.4(CHD7):c.2097-14A>G
|
|
|
NM_017780.4(CHD7):c.2118A>G (p.Glu706=)
|
rs2150697530
|
|
NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp)
|
|
|
NM_017780.4(CHD7):c.2175A>C (p.Ser725=)
|
|
|
NM_017780.4(CHD7):c.2187A>G (p.Lys729=)
|
rs1405754910
|
|
NM_017780.4(CHD7):c.2196A>G (p.Pro732=)
|
|
|
NM_017780.4(CHD7):c.2199A>G (p.Pro733=)
|
|
|
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del)
|
rs748363597
|
|
NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn)
|
rs776372236
|
|
NM_017780.4(CHD7):c.2232T>G (p.Gly744=)
|
|
|
NM_017780.4(CHD7):c.2238+7C>T
|
|
|
NM_017780.4(CHD7):c.2239-297C>G
|
rs112239241
|
|
NM_017780.4(CHD7):c.2241G>C (p.Lys747Asn)
|
|
|
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.2283A>G (p.Glu761=)
|
rs1372243680
|
|
NM_017780.4(CHD7):c.2330C>T (p.Ala777Val)
|
|
|
NM_017780.4(CHD7):c.2352C>G (p.Ser784=)
|
|
|
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe)
|
rs1331824961
|
|
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.2377-3dup
|
rs752271550
|
|
NM_017780.4(CHD7):c.2377-8T>G
|
rs777518407
|
|
NM_017780.4(CHD7):c.2377-9T>C
|
|
|
NM_017780.4(CHD7):c.238A>T (p.Met80Leu)
|
|
|
NM_017780.4(CHD7):c.2391A>G (p.Ala797=)
|
|
|
NM_017780.4(CHD7):c.2400A>C (p.Pro800=)
|
rs1586352829
|
|
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+7G>A
|
|
|
NM_017780.4(CHD7):c.2443-11T>G
|
rs2150723881
|
|
NM_017780.4(CHD7):c.2448A>G (p.Glu816=)
|
|
|
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+70dup
|
rs530966773
|
|
NM_017780.4(CHD7):c.2499-10G>T
|
rs1351318078
|
|
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.2499-269_2499-268insGT
|
rs1563624933
|
|
NM_017780.4(CHD7):c.2499-271_2499-270insGTCTGT
|
rs1554596106
|
|
NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr)
|
|
|
NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)
|
|
|
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+23del
|
|
|
NM_017780.4(CHD7):c.2613+8dup
|
rs2150739145
|
|
NM_017780.4(CHD7):c.2613+9_2613+10dup
|
|
|
NM_017780.4(CHD7):c.2614-11dup
|
|
|
NM_017780.4(CHD7):c.2614-14T>C
|
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
NM_017780.4(CHD7):c.2614-25_2614-4del
|
rs886038633
|
|
NM_017780.4(CHD7):c.2614-9T>C
|
rs2150745067
|
|
NM_017780.4(CHD7):c.2625G>A (p.Glu875=)
|
rs2150745168
|
|
NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly)
|
|
|
NM_017780.4(CHD7):c.2682A>G (p.Thr894=)
|
|
|
NM_017780.4(CHD7):c.2682A>T (p.Thr894=)
|
|
|
NM_017780.4(CHD7):c.2697+12T>C
|
|
|
NM_017780.4(CHD7):c.2697+172_2697+174del
|
rs142017079
|
|
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.2730A>G (p.Ser910=)
|
|
|
NM_017780.4(CHD7):c.2739T>C (p.Tyr913=)
|
|
|
NM_017780.4(CHD7):c.2745C>T (p.Asp915=)
|
rs1586389389
|
|
NM_017780.4(CHD7):c.2766G>A (p.Gln922=)
|
|
|
NM_017780.4(CHD7):c.2769C>T (p.Asp923=)
|
rs1375498221
|
|
NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu)
|
|
|
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.279C>T (p.Thr93=)
|
rs2150577775
|
|
NM_017780.4(CHD7):c.27T>G (p.Leu9=)
|
|
|
NM_017780.4(CHD7):c.2835+18G>A
|
|
|
NM_017780.4(CHD7):c.2835+18G>C
|
rs143580627
|
|
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.2850T>C (p.Ala950=)
|
rs1586389999
|
|
NM_017780.4(CHD7):c.2868G>A (p.Ser956=)
|
|
|
NM_017780.4(CHD7):c.2880G>A (p.Arg960=)
|
|
|
NM_017780.4(CHD7):c.2898C>T (p.Asn966=)
|
|
|
NM_017780.4(CHD7):c.2922G>A (p.Glu974=)
|
|
|
NM_017780.4(CHD7):c.2957+11C>G
|
|
|
NM_017780.4(CHD7):c.2957+15T>A
|
|
|
NM_017780.4(CHD7):c.295G>A (p.Ala99Thr)
|
rs779024959
|
|
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.3069C>G (p.Ala1023=)
|
|
|
NM_017780.4(CHD7):c.306C>T (p.His102=)
|
rs368111535
|
|
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.309G>C (p.Ser103=)
|
rs115293759
|
|
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=)
|
rs1586391319
|
|
NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr)
|
|
|
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln)
|
rs750203389
|
|
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.3202-18T>C
|
|
|
NM_017780.4(CHD7):c.3202-6T>C
|
|
|
NM_017780.4(CHD7):c.320C>A (p.Thr107Asn)
|
|
|
NM_017780.4(CHD7):c.3249A>G (p.Thr1083=)
|
|
|
NM_017780.4(CHD7):c.325C>T (p.Pro109Ser)
|
|
|
NM_017780.4(CHD7):c.3267T>G (p.Thr1089=)
|
rs1804154884
|
|
NM_017780.4(CHD7):c.327C>G (p.Pro109=)
|
|
|
NM_017780.4(CHD7):c.327C>T (p.Pro109=)
|
|
|
NM_017780.4(CHD7):c.3288T>C (p.Asn1096=)
|
|
|
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=)
|
rs551443626
|
|
NM_017780.4(CHD7):c.3306A>G (p.Val1102=)
|
|
|
NM_017780.4(CHD7):c.3336C>T (p.Asn1112=)
|
|
|
NM_017780.4(CHD7):c.3351G>C (p.Leu1117=)
|
|
|
NM_017780.4(CHD7):c.3363C>T (p.Leu1121=)
|
|
|
NM_017780.4(CHD7):c.3378+14T>C
|
|
|
NM_017780.4(CHD7):c.3379-12G>C
|
|
|
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.3399G>A (p.Thr1133=)
|
rs537533901
|
|
NM_017780.4(CHD7):c.3405C>T (p.Thr1135=)
|
rs1427044855
|
|
NM_017780.4(CHD7):c.3408A>G (p.Pro1136=)
|
rs587783438
|
|
NM_017780.4(CHD7):c.342C>A (p.Pro114=)
|
|
|
NM_017780.4(CHD7):c.3483A>C (p.Thr1161=)
|
|
|
NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)
|
|
|
NM_017780.4(CHD7):c.3504T>C (p.Asp1168=)
|
|
|
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+20T>C
|
|
|
NM_017780.4(CHD7):c.3522+20T>G
|
rs577146364
|
|
NM_017780.4(CHD7):c.3523-15A>G
|
rs2150764543
|
|
NM_017780.4(CHD7):c.3561G>A (p.Leu1187=)
|
|
|
NM_017780.4(CHD7):c.3576G>A (p.Glu1192=)
|
|
|
NM_017780.4(CHD7):c.3579T>C (p.Asp1193=)
|
|
|
NM_017780.4(CHD7):c.3591C>T (p.Asn1197=)
|
|
|
NM_017780.4(CHD7):c.3597C>T (p.Ala1199=)
|
|
|
NM_017780.4(CHD7):c.3606A>G (p.Glu1202=)
|
|
|
NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=)
|
rs1563638250
|
|
NM_017780.4(CHD7):c.3657A>T (p.Arg1219=)
|
|
|
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.3764C>T (p.Pro1255Leu)
|
|
|
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+8T>C
|
|
|
NM_017780.4(CHD7):c.3778+9G>T
|
|
|
NM_017780.4(CHD7):c.3779-10A>T
|
|
|
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.3804G>C (p.Glu1268Asp)
|
|
|
NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr)
|
|
|
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.3885T>A (p.Ile1295=)
|
|
|
NM_017780.4(CHD7):c.3900A>G (p.Pro1300=)
|
rs2150775740
|
|
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=)
|
rs371595829
|
|
NM_017780.4(CHD7):c.3924G>A (p.Arg1308=)
|
|
|
NM_017780.4(CHD7):c.3950G>A (p.Arg1317His)
|
|
|
NM_017780.4(CHD7):c.3963A>C (p.Ile1321=)
|
|
|
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)
|
|
|
NM_017780.4(CHD7):c.3989+11C>T
|
rs2150775930
|
|
NM_017780.4(CHD7):c.3990-11A>T
|
|
|
NM_017780.4(CHD7):c.3990-248T>A
|
rs147847471
|
|
NM_017780.4(CHD7):c.3990-8T>C
|
|
|
NM_017780.4(CHD7):c.3990-9G>A
|
|
|
NM_017780.4(CHD7):c.3996A>G (p.Pro1332=)
|
|
|
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.4056C>T (p.Phe1352=)
|
rs2150777183
|
|
NM_017780.4(CHD7):c.4092G>A (p.Leu1364=)
|
|
|
NM_017780.4(CHD7):c.411C>G (p.Ser137=)
|
rs1317598292
|
|
NM_017780.4(CHD7):c.4125C>T (p.Leu1375=)
|
|
|
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.4203T>C (p.His1401=)
|
rs969238742
|
|
NM_017780.4(CHD7):c.4217G>A (p.Ser1406Asn)
|
|
|
NM_017780.4(CHD7):c.4224T>C (p.Ser1408=)
|
rs2150778596
|
|
NM_017780.4(CHD7):c.4230A>G (p.Lys1410=)
|
|
|
NM_017780.4(CHD7):c.4245T>A (p.Ile1415=)
|
rs2150778641
|
|
NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)
|
|
|
NM_017780.4(CHD7):c.4281G>A (p.Lys1427=)
|
rs2150778687
|
|
NM_017780.4(CHD7):c.42G>A (p.Gly14=)
|
rs1215319146
|
|
NM_017780.4(CHD7):c.4317A>G (p.Leu1439=)
|
|
|
NM_017780.4(CHD7):c.4353+12C>G
|
|
|
NM_017780.4(CHD7):c.4354-12T>G
|
|
|
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.440C>T (p.Pro147Leu)
|
|
|
NM_017780.4(CHD7):c.442A>C (p.Arg148=)
|
|
|
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
|
|
|
NM_017780.4(CHD7):c.4455A>G (p.Glu1485=)
|
|
|
NM_017780.4(CHD7):c.4473C>T (p.Leu1491=)
|
|
|
NM_017780.4(CHD7):c.4476A>C (p.Leu1492=)
|
|
|
NM_017780.4(CHD7):c.4476A>G (p.Leu1492=)
|
|
|
NM_017780.4(CHD7):c.4482A>C (p.Arg1494=)
|
rs1586420262
|
|
NM_017780.4(CHD7):c.4524A>G (p.Thr1508=)
|
|
|
NM_017780.4(CHD7):c.4533+10G>A
|
|
|
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.4573T>C (p.Leu1525=)
|
|
|
NM_017780.4(CHD7):c.4605T>C (p.Ala1535=)
|
|
|
NM_017780.4(CHD7):c.4614T>C (p.Ala1538=)
|
rs2150786158
|
|
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+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.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.4707G>A (p.Lys1569=)
|
|
|
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu)
|
rs1434566381
|
|
NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe)
|
|
|
NM_017780.4(CHD7):c.4764T>G (p.Cys1588Trp)
|
|
|
NM_017780.4(CHD7):c.4779T>C (p.Arg1593=)
|
|
|
NM_017780.4(CHD7):c.4779T>G (p.Arg1593=)
|
|
|
NM_017780.4(CHD7):c.4800C>T (p.Gly1600=)
|
|
|
NM_017780.4(CHD7):c.4807A>C (p.Arg1603=)
|
|
|
NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)
|
|
|
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=)
|
rs1164615393
|
|
NM_017780.4(CHD7):c.4850+11C>T
|
|
|
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG
|
rs2150787035
|
|
NM_017780.4(CHD7):c.4850+9G>T
|
rs2150787043
|
|
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.4857A>G (p.Gly1619=)
|
|
|
NM_017780.4(CHD7):c.4860G>A (p.Arg1620=)
|
|
|
NM_017780.4(CHD7):c.4879C>T (p.His1627Tyr)
|
|
|
NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu)
|
|
|
NM_017780.4(CHD7):c.4917A>G (p.Val1639=)
|
|
|
NM_017780.4(CHD7):c.495_500dup (p.164_165QP[4])
|
rs758131874
|
|
NM_017780.4(CHD7):c.4968G>A (p.Gly1656=)
|
|
|
NM_017780.4(CHD7):c.5022C>T (p.Gly1674=)
|
|
|
NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln)
|
|
|
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+7C>T
|
rs2150793457
|
|
NM_017780.4(CHD7):c.5050+9C>G
|
|
|
NM_017780.4(CHD7):c.5051-17T>A
|
|
|
NM_017780.4(CHD7):c.5051-20T>A
|
rs1394727727
|
|
NM_017780.4(CHD7):c.5051-4C>G
|
rs71640288
|
|
NM_017780.4(CHD7):c.5058A>G (p.Ser1686=)
|
rs1586432209
|
|
NM_017780.4(CHD7):c.5076A>G (p.Gly1692=)
|
|
|
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
|
|
|
NM_017780.4(CHD7):c.5092G>T (p.Val1698Leu)
|
rs777744183
|
|
NM_017780.4(CHD7):c.5109A>G (p.Thr1703=)
|
|
|
NM_017780.4(CHD7):c.515C>T (p.Pro172Leu)
|
|
|
NM_017780.4(CHD7):c.5166C>T (p.Phe1722=)
|
|
|
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=)
|
rs1554602576
|
|
NM_017780.4(CHD7):c.5187A>G (p.Lys1729=)
|
rs1586432446
|
|
NM_017780.4(CHD7):c.518C>T (p.Ala173Val)
|
|
|
NM_017780.4(CHD7):c.5190C>T (p.His1730=)
|
|
|
NM_017780.4(CHD7):c.5202C>T (p.His1734=)
|
rs1805162254
|
|
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+25del
|
rs137901533
|
|
NM_017780.4(CHD7):c.5210+9T>G
|
rs753589296
|
|
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.5211-3del
|
rs1586437092
|
|
NM_017780.4(CHD7):c.5215C>T (p.Leu1739=)
|
|
|
NM_017780.4(CHD7):c.5218C>T (p.Leu1740=)
|
rs1554603141
|
|
NM_017780.4(CHD7):c.5250A>G (p.Gln1750=)
|
|
|
NM_017780.4(CHD7):c.5256G>A (p.Val1752=)
|
rs1300830933
|
|
NM_017780.4(CHD7):c.5277G>A (p.Lys1759=)
|
|
|
NM_017780.4(CHD7):c.5300+11G>A
|
|
|
NM_017780.4(CHD7):c.5300+12C>T
|
|
|
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.5313G>A (p.Val1771=)
|
|
|
NM_017780.4(CHD7):c.531C>T (p.Pro177=)
|
|
|
NM_017780.4(CHD7):c.5337T>C (p.Ala1779=)
|
|
|
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=)
|
rs2150801685
|
|
NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)
|
|
|
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=)
|
rs559748498
|
|
NM_017780.4(CHD7):c.5404+14C>T
|
rs2150801886
|
|
NM_017780.4(CHD7):c.5405-6G>A
|
|
|
NM_017780.4(CHD7):c.5433T>C (p.Ala1811=)
|
|
|
NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser)
|
|
|
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=)
|
|
|
NM_017780.4(CHD7):c.54T>C (p.Ser18=)
|
rs2150577330
|
|
NM_017780.4(CHD7):c.5512A>G (p.Met1838Val)
|
|
|
NM_017780.4(CHD7):c.5520A>G (p.Ala1840=)
|
rs2150804893
|
|
NM_017780.4(CHD7):c.5534+19A>C
|
|
|
NM_017780.4(CHD7):c.5535-19T>C
|
|
|
NM_017780.4(CHD7):c.5535-20T>C
|
rs1394659038
|
|
NM_017780.4(CHD7):c.5553A>G (p.Glu1851=)
|
|
|
NM_017780.4(CHD7):c.5574A>G (p.Lys1858=)
|
|
|
NM_017780.4(CHD7):c.557T>C (p.Met186Thr)
|
|
|
NM_017780.4(CHD7):c.5589G>T (p.Pro1863=)
|
|
|
NM_017780.4(CHD7):c.5607+13G>A
|
|
|
NM_017780.4(CHD7):c.5607+14T>C
|
|
|
NM_017780.4(CHD7):c.5607+30G>T
|
rs551954486
|
|
NM_017780.4(CHD7):c.5607+7A>G
|
rs1805434580
|
|
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>C (p.Gln187Pro)
|
rs1809054864
|
|
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.5660C>G (p.Ala1887Gly)
|
rs1212851730
|
|
NM_017780.4(CHD7):c.5665+13A>G
|
rs2150806324
|
|
NM_017780.4(CHD7):c.5665+18C>G
|
|
|
NM_017780.4(CHD7):c.5665+267A>G
|
rs114428319
|
|
NM_017780.4(CHD7):c.5665+7T>C
|
|
|
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.5666-308dup
|
rs200802182
|
|
NM_017780.4(CHD7):c.5666-5C>T
|
|
|
NM_017780.4(CHD7):c.5727G>A (p.Leu1909=)
|
rs2150807633
|
|
NM_017780.4(CHD7):c.5763G>A (p.Gln1921=)
|
rs2150807756
|
|
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
|
|
|
NM_017780.4(CHD7):c.5778G>A (p.Arg1926=)
|
|
|
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp)
|
rs773867024
|
|
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.5887C>T (p.Arg1963Trp)
|
|
|
NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln)
|
|
|
NM_017780.4(CHD7):c.588G>C (p.Gly196=)
|
|
|
NM_017780.4(CHD7):c.5894+15G>T
|
|
|
NM_017780.4(CHD7):c.5895-18A>G
|
|
|
NM_017780.4(CHD7):c.5895-18_5895-17insGA
|
rs1805499097
|
|
NM_017780.4(CHD7):c.5895-5A>T
|
rs1805499680
|
|
NM_017780.4(CHD7):c.591T>C (p.Asp197=)
|
|
|
NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=)
|
rs2150808715
|
|
NM_017780.4(CHD7):c.5931G>A (p.Val1977=)
|
|
|
NM_017780.4(CHD7):c.5961T>C (p.Pro1987=)
|
|
|
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=)
|
rs768313777
|
|
NM_017780.4(CHD7):c.5988A>G (p.Gln1996=)
|
rs2150808862
|
|
NM_017780.4(CHD7):c.6033G>A (p.Leu2011=)
|
|
|
NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=)
|
|
|
NM_017780.4(CHD7):c.6090C>A (p.Val2030=)
|
rs2150809096
|
|
NM_017780.4(CHD7):c.6103+19A>G
|
|
|
NM_017780.4(CHD7):c.6104-12del
|
|
|
NM_017780.4(CHD7):c.6117C>A (p.Leu2039=)
|
|
|
NM_017780.4(CHD7):c.6123C>T (p.Ser2041=)
|
rs2150809472
|
|
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.6153C>T (p.Ala2051=)
|
rs759326626
|
|
NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)
|
|
|
NM_017780.4(CHD7):c.6231G>A (p.Arg2077=)
|
rs1805526666
|
|
NM_017780.4(CHD7):c.6237G>A (p.Lys2079=)
|
rs770857676
|
|
NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)
|
|
|
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.6327C>T (p.Val2109=)
|
rs2150810128
|
|
NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln)
|
|
|
NM_017780.4(CHD7):c.6333G>A (p.Arg2111=)
|
rs1563660662
|
|
NM_017780.4(CHD7):c.6369C>T (p.Ser2123=)
|
|
|
NM_017780.4(CHD7):c.6378T>C (p.Asp2126=)
|
|
|
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.6393T>C (p.Phe2131=)
|
rs2150810295
|
|
NM_017780.4(CHD7):c.6394G>A (p.Ala2132Thr)
|
|
|
NM_017780.4(CHD7):c.6399A>G (p.Gln2133=)
|
|
|
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.6468C>G (p.Val2156=)
|
|
|
NM_017780.4(CHD7):c.651A>G (p.Gln217=)
|
|
|
NM_017780.4(CHD7):c.6531G>A (p.Glu2177=)
|
|
|
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu)
|
rs2150810874
|
|
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>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.660C>T (p.Leu220=)
|
rs1177262261
|
|
NM_017780.4(CHD7):c.6639T>C (p.Ser2213=)
|
|
|
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.6750G>A (p.Lys2250=)
|
rs1563661629
|
|
NM_017780.4(CHD7):c.6771C>A (p.Pro2257=)
|
rs367615733
|
|
NM_017780.4(CHD7):c.6775+19C>T
|
|
|
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.6776-248G>A
|
rs139123848
|
|
NM_017780.4(CHD7):c.6776-4T>G
|
rs1563662500
|
|
NM_017780.4(CHD7):c.6776-5C>A
|
|
|
NM_017780.4(CHD7):c.6780A>G (p.Gly2260=)
|
|
|
NM_017780.4(CHD7):c.6795G>A (p.Gly2265=)
|
|
|
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser)
|
rs745361070
|
|
NM_017780.4(CHD7):c.6826A>G (p.Met2276Val)
|
|
|
NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=)
|
rs2150813513
|
|
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)
|
|
|
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser)
|
rs767696409
|
|
NM_017780.4(CHD7):c.690A>G (p.Ser230=)
|
rs926628835
|
|
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.6933T>C (p.Pro2311=)
|
|
|
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.6937-249G>A
|
rs192096433
|
|
NM_017780.4(CHD7):c.6981G>A (p.Val2327=)
|
|
|
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala)
|
rs1554604771
|
|
NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)
|
|
|
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.7038C>T (p.Ile2346=)
|
rs2129642777
|
|
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp)
|
rs754527047
|
|
NM_017780.4(CHD7):c.7062G>A (p.Val2354=)
|
|
|
NM_017780.4(CHD7):c.7083G>A (p.Arg2361=)
|
rs1325869967
|
|
NM_017780.4(CHD7):c.708C>T (p.Ser236=)
|
rs2150578971
|
|
NM_017780.4(CHD7):c.7092T>C (p.Ala2364=)
|
rs2129643396
|
|
NM_017780.4(CHD7):c.7101C>T (p.Ser2367=)
|
|
|
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser)
|
rs185940313
|
|
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
|
|
|
NM_017780.4(CHD7):c.712G>C (p.Val238Leu)
|
|
|
NM_017780.4(CHD7):c.7146G>T (p.Thr2382=)
|
|
|
NM_017780.4(CHD7):c.7155G>A (p.Gln2385=)
|
rs867921812
|
|
NM_017780.4(CHD7):c.7164+14G>C
|
|
|
NM_017780.4(CHD7):c.7164+16T>C
|
|
|
NM_017780.4(CHD7):c.7165-12A>G
|
rs2129646241
|
|
NM_017780.4(CHD7):c.7165-16T>C
|
|
|
NM_017780.4(CHD7):c.7165-18G>A
|
|
|
NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser)
|
|
|
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=)
|
rs545381857
|
|
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del)
|
rs374380640
|
|
NM_017780.4(CHD7):c.720G>A (p.Gln240=)
|
|
|
NM_017780.4(CHD7):c.7233C>A (p.Ala2411=)
|
|
|
NM_017780.4(CHD7):c.723G>C (p.Gln241His)
|
|
|
NM_017780.4(CHD7):c.7240G>T (p.Ala2414Ser)
|
|
|
NM_017780.4(CHD7):c.7241C>T (p.Ala2414Val)
|
|
|
NM_017780.4(CHD7):c.7245C>T (p.Ala2415=)
|
|
|
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val)
|
rs1293236067
|
|
NM_017780.4(CHD7):c.7294G>T (p.Val2432Leu)
|
rs372078650
|
|
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile)
|
rs766091347
|
|
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.7320A>G (p.Lys2440=)
|
|
|
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg)
|
rs779776551
|
|
NM_017780.4(CHD7):c.7377A>G (p.Ser2459=)
|
|
|
NM_017780.4(CHD7):c.7428T>C (p.Asp2476=)
|
rs886038636
|
|
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.7460C>T (p.Ala2487Val)
|
rs1349434680
|
|
NM_017780.4(CHD7):c.7461A>G (p.Ala2487=)
|
rs1389183344
|
|
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp)
|
rs371595770
|
|
NM_017780.4(CHD7):c.7470G>A (p.Ser2490=)
|
|
|
NM_017780.4(CHD7):c.7470G>C (p.Ser2490=)
|
rs780608336
|
|
NM_017780.4(CHD7):c.7488T>C (p.His2496=)
|
rs995534410
|
|
NM_017780.4(CHD7):c.7491C>G (p.Leu2497=)
|
|
|
NM_017780.4(CHD7):c.7497T>C (p.Asn2499=)
|
rs1026956983
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
NM_017780.4(CHD7):c.7518G>A (p.Glu2506=)
|
|
|
NM_017780.4(CHD7):c.7530G>A (p.Lys2510=)
|
rs1563665717
|
|
NM_017780.4(CHD7):c.7569T>C (p.Asp2523=)
|
|
|
NM_017780.4(CHD7):c.756G>T (p.Ser252=)
|
|
|
NM_017780.4(CHD7):c.7586A>G (p.His2529Arg)
|
|
|
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.7612G>A (p.Asp2538Asn)
|
|
|
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.7650G>A (p.Glu2550=)
|
rs1173503101
|
|
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
|
|
|
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu)
|
rs1046787337
|
|
NM_017780.4(CHD7):c.7692C>T (p.Asp2564=)
|
|
|
NM_017780.4(CHD7):c.7700C>T (p.Thr2567Ile)
|
|
|
NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln)
|
|
|
NM_017780.4(CHD7):c.7713T>C (p.Val2571=)
|
|
|
NM_017780.4(CHD7):c.7743G>A (p.Val2581=)
|
|
|
NM_017780.4(CHD7):c.7743G>C (p.Val2581=)
|
|
|
NM_017780.4(CHD7):c.7767G>A (p.Lys2589=)
|
rs2129705530
|
|
NM_017780.4(CHD7):c.780C>T (p.Pro260=)
|
rs2150579200
|
|
NM_017780.4(CHD7):c.7821T>C (p.Ser2607=)
|
|
|
NM_017780.4(CHD7):c.7830+20G>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.7831-5T>C
|
rs770131922
|
|
NM_017780.4(CHD7):c.7831-9C>T
|
rs1340959002
|
|
NM_017780.4(CHD7):c.7869G>A (p.Pro2623=)
|
rs1338609969
|
|
NM_017780.4(CHD7):c.786T>C (p.Thr262=)
|
|
|
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.7914A>C (p.Ile2638=)
|
|
|
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+6C>T
|
rs769103057
|
|
NM_017780.4(CHD7):c.7971+8C>T
|
rs1295446479
|
|
NM_017780.4(CHD7):c.7972-7T>C
|
|
|
NM_017780.4(CHD7):c.7972-8C>T
|
|
|
NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val)
|
|
|
NM_017780.4(CHD7):c.8004T>C (p.Asp2668=)
|
|
|
NM_017780.4(CHD7):c.800A>G (p.Glu267Gly)
|
|
|
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.8077-10T>C
|
|
|
NM_017780.4(CHD7):c.8077-12C>T
|
|
|
NM_017780.4(CHD7):c.8077-17C>T
|
|
|
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=)
|
rs952299853
|
|
NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)
|
|
|
NM_017780.4(CHD7):c.8142G>A (p.Ala2714=)
|
|
|
NM_017780.4(CHD7):c.8149A>C (p.Arg2717=)
|
rs2129757721
|
|
NM_017780.4(CHD7):c.8163C>A (p.Pro2721=)
|
rs2129757929
|
|
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
|
|
|
NM_017780.4(CHD7):c.8178C>T (p.Ala2726=)
|
rs2129758283
|
|
NM_017780.4(CHD7):c.8181A>G (p.Arg2727=)
|
|
|
NM_017780.4(CHD7):c.8184A>C (p.Ala2728=)
|
|
|
NM_017780.4(CHD7):c.8187C>G (p.Ala2729=)
|
|
|
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=)
|
rs1806178855
|
|
NM_017780.4(CHD7):c.8196C>G (p.Ala2732=)
|
|
|
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.8224A>C (p.Asn2742His)
|
|
|
NM_017780.4(CHD7):c.8262C>T (p.Asp2754=)
|
|
|
NM_017780.4(CHD7):c.8274T>C (p.Leu2758=)
|
rs903775787
|
|
NM_017780.4(CHD7):c.8283C>T (p.Leu2761=)
|
|
|
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu)
|
rs1286287151
|
|
NM_017780.4(CHD7):c.828C>A (p.Ser276=)
|
|
|
NM_017780.4(CHD7):c.8292C>G (p.Leu2764=)
|
rs1196717284
|
|
NM_017780.4(CHD7):c.8307G>A (p.Leu2769=)
|
|
|
NM_017780.4(CHD7):c.830C>T (p.Pro277Leu)
|
|
|
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.8334A>T (p.Gly2778=)
|
rs1358340358
|
|
NM_017780.4(CHD7):c.8352C>T (p.Thr2784=)
|
|
|
NM_017780.4(CHD7):c.8383G>A (p.Val2795Met)
|
|
|
NM_017780.4(CHD7):c.8391C>G (p.Pro2797=)
|
|
|
NM_017780.4(CHD7):c.8391C>T (p.Pro2797=)
|
|
|
NM_017780.4(CHD7):c.8428T>A (p.Phe2810Ile)
|
|
|
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.8477A>G (p.Asn2826Ser)
|
rs370129047
|
|
NM_017780.4(CHD7):c.8481C>T (p.Thr2827=)
|
rs1249032872
|
|
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr)
|
rs533600930
|
|
NM_017780.4(CHD7):c.8490T>C (p.Ala2830=)
|
|
|
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys)
|
rs1399809223
|
|
NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn)
|
|
|
NM_017780.4(CHD7):c.8553A>G (p.Glu2851=)
|
rs2129765778
|
|
NM_017780.4(CHD7):c.8574G>A (p.Glu2858=)
|
rs1806203830
|
|
NM_017780.4(CHD7):c.8590G>C (p.Val2864Leu)
|
|
|
NM_017780.4(CHD7):c.8601T>C (p.Ala2867=)
|
|
|
NM_017780.4(CHD7):c.8610G>C (p.Ala2870=)
|
|
|
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=)
|
rs375459176
|
|
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe)
|
|
|
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.8646A>T (p.Gly2882=)
|
rs1586468596
|
|
NM_017780.4(CHD7):c.8652C>G (p.Pro2884=)
|
|
|
NM_017780.4(CHD7):c.8662C>T (p.Leu2888=)
|
rs1017895981
|
|
NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)
|
|
|
NM_017780.4(CHD7):c.867C>A (p.Thr289=)
|
|
|
NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile)
|
rs2129768305
|
|
NM_017780.4(CHD7):c.8700G>A (p.Pro2900=)
|
|
|
NM_017780.4(CHD7):c.8733A>G (p.Pro2911=)
|
rs1458051473
|
|
NM_017780.4(CHD7):c.8739G>C (p.Leu2913=)
|
rs746128427
|
|
NM_017780.4(CHD7):c.8739G>T (p.Leu2913=)
|
|
|
NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val)
|
|
|
NM_017780.4(CHD7):c.8751G>A (p.Thr2917=)
|
|
|
NM_017780.4(CHD7):c.8752C>T (p.Leu2918=)
|
rs1465616826
|
|
NM_017780.4(CHD7):c.8775A>C (p.Ala2925=)
|
|
|
NM_017780.4(CHD7):c.8796C>T (p.Gly2932=)
|
rs1216803669
|
|
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.8823G>A (p.Lys2941=)
|
|
|
NM_017780.4(CHD7):c.8869G>A (p.Asp2957Asn)
|
|
|
NM_017780.4(CHD7):c.8871T>C (p.Asp2957=)
|
|
|
NM_017780.4(CHD7):c.8883C>T (p.Ser2961=)
|
|
|
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
|
|
|
NM_017780.4(CHD7):c.891G>C (p.Gln297His)
|
rs1809080744
|
|
NM_017780.4(CHD7):c.8949A>G (p.Ser2983=)
|
|
|
NM_017780.4(CHD7):c.8961G>A (p.Gly2987=)
|
rs1586469564
|
|
NM_017780.4(CHD7):c.8976C>T (p.Asn2992=)
|
|
|
NM_017780.4(CHD7):c.897C>T (p.Val299=)
|
|
|
NM_017780.4(CHD7):c.907A>G (p.Thr303Ala)
|
|
|
NM_017780.4(CHD7):c.924G>T (p.Gly308=)
|
|
|
NM_017780.4(CHD7):c.925C>A (p.Gln309Lys)
|
|
|
NM_017780.4(CHD7):c.951C>T (p.Asn317=)
|
rs770785044
|
|
NM_017780.4(CHD7):c.957T>C (p.Asn319=)
|
|
|
NM_017780.4(CHD7):c.996A>G (p.Leu332=)
|
|
|