NM_012431.3(SEMA3E):c.1143+41A>G
|
rs2709930
|
0.97100
|
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_012431.3(SEMA3E):c.550+40G>A
|
rs2713145
|
0.52350
|
NM_012431.3(SEMA3E):c.998+12A>T
|
rs2245441
|
0.51207
|
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=)
|
rs2722985
|
0.49353
|
NM_012431.3(SEMA3E):c.671-47A>T
|
rs2709941
|
0.49328
|
NM_012431.3(SEMA3E):c.276+3966C>G
|
rs2255715
|
0.45623
|
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=)
|
rs2722974
|
0.35335
|
NM_012431.3(SEMA3E):c.337-38T>C
|
rs7806439
|
0.34425
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
NM_017780.3(CHD7):c.*2104T>A
|
rs16926520
|
0.11399
|
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro)
|
rs61729612
|
0.11028
|
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=)
|
rs2371545
|
0.07602
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=)
|
rs61636768
|
0.03837
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val)
|
rs61729610
|
0.02589
|
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_012431.3(SEMA3E):c.900T>C (p.Asn300=)
|
rs28505908
|
0.01156
|
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_012431.3(SEMA3E):c.1722A>T (p.Gly574=)
|
rs61729608
|
0.00518
|
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_012431.3(SEMA3E):c.2283C>T (p.Ser761=)
|
rs80079143
|
0.00465
|
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)
|
rs142204796
|
0.00396
|
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.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.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=)
|
rs201663991
|
0.00080
|
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_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)
|
rs192697566
|
0.00069
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)
|
rs186628513
|
0.00056
|
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.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_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg)
|
rs181129823
|
0.00035
|
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)
|
rs140094033
|
0.00035
|
NM_017780.4(CHD7):c.1666-15A>G
|
rs372978951
|
0.00035
|
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.1958C>T (p.Pro653Leu)
|
rs200536932
|
0.00032
|
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_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser)
|
rs144370841
|
0.00029
|
NM_012431.3(SEMA3E):c.999-12T>C
|
rs373951907
|
0.00029
|
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_012431.3(SEMA3E):c.1522G>A (p.Ala508Thr)
|
rs758060734
|
0.00024
|
NM_017780.4(CHD7):c.1737G>A (p.Gln579=)
|
rs747922099
|
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_012431.3(SEMA3E):c.1435C>T (p.Leu479=)
|
rs757610572
|
0.00016
|
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile)
|
rs200779956
|
0.00016
|
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_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys)
|
rs143631464
|
0.00015
|
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_012431.3(SEMA3E):c.1348G>A (p.Val450Ile)
|
rs190791287
|
0.00014
|
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys)
|
rs553630404
|
0.00014
|
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_012431.3(SEMA3E):c.155C>G (p.Pro52Arg)
|
rs370543242
|
0.00013
|
NM_012431.3(SEMA3E):c.1668-16A>G
|
rs371322188
|
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_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn)
|
rs201699077
|
0.00011
|
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_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly)
|
rs754158945
|
0.00010
|
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser)
|
rs148649507
|
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_012431.3(SEMA3E):c.1366+11G>A
|
rs369202554
|
0.00009
|
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser)
|
rs145249878
|
0.00009
|
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=)
|
rs766680673
|
0.00009
|
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_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
|
rs61729605
|
0.00008
|
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)
|
rs768818178
|
0.00008
|
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=)
|
rs758229846
|
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_012431.3(SEMA3E):c.671-10G>A
|
rs372840645
|
0.00007
|
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala)
|
rs746837682
|
0.00007
|
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_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
|
rs373965521
|
0.00006
|
NM_012431.3(SEMA3E):c.1366+10C>T
|
rs144608744
|
0.00006
|
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=)
|
rs111300014
|
0.00006
|
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)
|
rs140160399
|
0.00006
|
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=)
|
rs142305186
|
0.00006
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
NM_012431.3(SEMA3E):c.999-16T>C
|
rs376833826
|
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_012431.3(SEMA3E):c.167T>C (p.Leu56Pro)
|
rs375067711
|
0.00005
|
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
|
rs558904762
|
0.00005
|
NM_012431.3(SEMA3E):c.814-11G>T
|
rs781715218
|
0.00005
|
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser)
|
rs752718717
|
0.00005
|
NM_012431.3(SEMA3E):c.998+10T>C
|
rs769133097
|
0.00005
|
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.1959G>A (p.Pro653=)
|
rs747024874
|
0.00005
|
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser)
|
rs769003426
|
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_012431.3(SEMA3E):c.1017T>A (p.His339Gln)
|
rs746431820
|
0.00004
|
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn)
|
rs1293541067
|
0.00004
|
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
|
rs546414937
|
0.00004
|
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys)
|
rs754754690
|
0.00004
|
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser)
|
rs373711827
|
0.00004
|
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=)
|
rs370540865
|
0.00004
|
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=)
|
rs776317078
|
0.00004
|
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
|
rs767115234
|
0.00004
|
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln)
|
rs769248913
|
0.00004
|
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=)
|
rs756346342
|
0.00004
|
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=)
|
rs148264760
|
0.00004
|
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val)
|
rs771976054
|
0.00004
|
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=)
|
rs146189665
|
0.00004
|
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)
|
rs143423970
|
0.00004
|
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln)
|
rs201465097
|
0.00004
|
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu)
|
rs145267516
|
0.00004
|
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
|
rs763295904
|
0.00004
|
NM_012431.3(SEMA3E):c.814-10G>T
|
rs1053672541
|
0.00004
|
NM_017780.4(CHD7):c.*1644A>G
|
rs886063053
|
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.1727C>T (p.Pro576Leu)
|
rs746633621
|
0.00004
|
NM_017780.4(CHD7):c.1920A>G (p.Glu640=)
|
rs749214938
|
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_012431.3(SEMA3E):c.1667+7C>T
|
rs757094477
|
0.00003
|
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=)
|
rs199840463
|
0.00003
|
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)
|
rs747326285
|
0.00003
|
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)
|
rs121918341
|
0.00003
|
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=)
|
rs753767962
|
0.00003
|
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=)
|
rs564120268
|
0.00003
|
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln)
|
rs781381659
|
0.00003
|
NM_012431.3(SEMA3E):c.551-6G>A
|
rs535143722
|
0.00003
|
NM_012431.3(SEMA3E):c.754G>T (p.Ala252Ser)
|
rs779163443
|
0.00003
|
NM_012431.3(SEMA3E):c.94C>T (p.Arg32Trp)
|
rs774777538
|
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.1677G>A (p.Ser559=)
|
rs568348314
|
0.00003
|
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)
|
rs776871277
|
0.00003
|
NM_017780.4(CHD7):c.1968G>A (p.Pro656=)
|
rs569213080
|
0.00003
|
NM_017780.4(CHD7):c.2096+11G>A
|
rs895506618
|
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.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_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg)
|
rs751565672
|
0.00002
|
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
|
rs753965043
|
0.00002
|
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu)
|
rs752774852
|
0.00002
|
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=)
|
rs750937375
|
0.00002
|
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=)
|
rs139043841
|
0.00002
|
NM_012431.3(SEMA3E):c.1413G>A (p.Met471Ile)
|
rs752959572
|
0.00002
|
NM_012431.3(SEMA3E):c.1500+5G>A
|
rs201772961
|
0.00002
|
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=)
|
rs574901886
|
0.00002
|
NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His)
|
rs779454555
|
0.00002
|
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
|
rs538244011
|
0.00002
|
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr)
|
rs767621375
|
0.00002
|
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp)
|
rs773688938
|
0.00002
|
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=)
|
rs375209449
|
0.00002
|
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val)
|
rs780025635
|
0.00002
|
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
|
rs775302619
|
0.00002
|
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His)
|
rs150833995
|
0.00002
|
NM_012431.3(SEMA3E):c.671-19C>A
|
rs375797663
|
0.00002
|
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
|
rs762866887
|
0.00002
|
NM_012431.3(SEMA3E):c.798C>T (p.Val266=)
|
rs1475070881
|
0.00002
|
NM_012431.3(SEMA3E):c.929-10A>G
|
rs1032615953
|
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.1813C>G (p.His605Asp)
|
rs534225918
|
0.00002
|
NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg)
|
rs375905260
|
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.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_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln)
|
rs748722795
|
0.00001
|
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=)
|
rs1208777030
|
0.00001
|
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
|
rs1378507372
|
0.00001
|
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg)
|
rs200162096
|
0.00001
|
NM_012431.3(SEMA3E):c.116-15C>T
|
rs745461858
|
0.00001
|
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
|
rs766917020
|
0.00001
|
NM_012431.3(SEMA3E):c.1214C>T (p.Ala405Val)
|
rs1390797360
|
0.00001
|
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=)
|
rs1435041618
|
0.00001
|
NM_012431.3(SEMA3E):c.122T>C (p.Leu41Ser)
|
rs778519947
|
0.00001
|
NM_012431.3(SEMA3E):c.1313T>C (p.Val438Ala)
|
rs755186079
|
0.00001
|
NM_012431.3(SEMA3E):c.1322T>C (p.Val441Ala)
|
rs765714534
|
0.00001
|
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp)
|
rs1788207145
|
0.00001
|
NM_012431.3(SEMA3E):c.1367-4A>G
|
rs927631455
|
0.00001
|
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile)
|
rs1327334624
|
0.00001
|
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp)
|
rs764562322
|
0.00001
|
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val)
|
rs145819479
|
0.00001
|
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
|
rs777818746
|
0.00001
|
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His)
|
rs1170846873
|
0.00001
|
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
|
rs1033262030
|
0.00001
|
NM_012431.3(SEMA3E):c.1667+3G>A
|
rs778403800
|
0.00001
|
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter)
|
rs1420638220
|
0.00001
|
NM_012431.3(SEMA3E):c.1754C>A (p.Thr585Asn)
|
rs761147897
|
0.00001
|
NM_012431.3(SEMA3E):c.1876-11T>C
|
rs542379432
|
0.00001
|
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe)
|
rs1246755098
|
0.00001
|
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=)
|
rs755163849
|
0.00001
|
NM_012431.3(SEMA3E):c.1977T>C (p.His659=)
|
rs1451860370
|
0.00001
|
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)
|
rs375536813
|
0.00001
|
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=)
|
rs753319647
|
0.00001
|
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)
|
rs146635766
|
0.00001
|
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
|
rs768606535
|
0.00001
|
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val)
|
rs371910815
|
0.00001
|
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)
|
rs765040215
|
0.00001
|
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala)
|
rs765517064
|
0.00001
|
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=)
|
rs1790350122
|
0.00001
|
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
|
rs759100269
|
0.00001
|
NM_012431.3(SEMA3E):c.276+19G>C
|
rs186974190
|
0.00001
|
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
|
rs1789839857
|
0.00001
|
NM_012431.3(SEMA3E):c.336G>A (p.Ala112=)
|
rs770979660
|
0.00001
|
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=)
|
rs758897440
|
0.00001
|
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
|
rs1241693530
|
0.00001
|
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser)
|
rs1441322114
|
0.00001
|
NM_012431.3(SEMA3E):c.551-17C>T
|
rs771573182
|
0.00001
|
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val)
|
rs765052488
|
0.00001
|
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=)
|
rs756263299
|
0.00001
|
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg)
|
rs963545974
|
0.00001
|
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=)
|
rs200688368
|
0.00001
|
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=)
|
rs773812106
|
0.00001
|
NM_012431.3(SEMA3E):c.616A>G (p.Met206Val)
|
rs745626807
|
0.00001
|
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
|
rs1429112884
|
0.00001
|
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=)
|
rs1457393978
|
0.00001
|
NM_012431.3(SEMA3E):c.670+12G>A
|
rs1383072223
|
0.00001
|
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=)
|
rs143878781
|
0.00001
|
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=)
|
rs769859383
|
0.00001
|
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
|
rs749567149
|
0.00001
|
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=)
|
rs756513699
|
0.00001
|
NM_012431.3(SEMA3E):c.999-10T>C
|
rs371994521
|
0.00001
|
NM_012431.3(SEMA3E):c.999-3C>T
|
rs566304903
|
0.00001
|
NM_012431.3(SEMA3E):c.999-9A>G
|
rs776954864
|
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.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu)
|
rs757689264
|
0.00001
|
NM_017780.4(CHD7):c.1704G>A (p.Pro568=)
|
rs765715877
|
0.00001
|
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)
|
rs769625033
|
0.00001
|
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser)
|
rs548706525
|
0.00001
|
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys)
|
rs764607908
|
0.00001
|
NM_017780.4(CHD7):c.1881A>G (p.Gln627=)
|
rs751273179
|
0.00001
|
NM_017780.4(CHD7):c.1890T>C (p.Asn630=)
|
rs754640263
|
0.00001
|
NM_017780.4(CHD7):c.1908G>A (p.Gly636=)
|
rs923306494
|
0.00001
|
NM_017780.4(CHD7):c.1914A>G (p.Gln638=)
|
rs777624090
|
0.00001
|
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu)
|
rs1335682527
|
0.00001
|
NM_017780.4(CHD7):c.1977C>T (p.Pro659=)
|
rs886063034
|
0.00001
|
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)
|
rs1373820202
|
0.00001
|
NM_017780.4(CHD7):c.2013G>A (p.Pro671=)
|
rs1361271759
|
0.00001
|
NM_017780.4(CHD7):c.202C>T (p.His68Tyr)
|
rs886063032
|
0.00001
|
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr)
|
rs1187193827
|
0.00001
|
NM_017780.4(CHD7):c.2063C>T (p.Ala688Val)
|
rs759010289
|
0.00001
|
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met)
|
rs373706363
|
0.00001
|
NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu)
|
rs755898600
|
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.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.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+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.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.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
|
NM_018117.12(WDR11):c.2108G>A (p.Arg703Gln)
|
rs753696030
|
0.00001
|
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1
|
|
|
NC_000007.13:g.(?_81331897)_(84751207_?)dup
|
|
|
NC_000007.13:g.(?_82996902)_(82997374_?)dup
|
|
|
NC_000007.13:g.(?_83047686)_(83047819_?)dup
|
|
|
NC_000007.13:g.(?_83047686)_(83119610_?)dup
|
|
|
NC_000007.13:g.(?_83277724)_(83277858_?)del
|
|
|
NC_000007.14:g.(?_83367566)_(83648562_?)del
|
|
|
NC_000008.10:g.(?_61121344)_(62626930_?)dup
|
|
|
NC_000008.10:g.(?_61653972)_(61655676_?)dup
|
|
|
NC_000008.11:g.(?_60741413)_(60856908_?)dup
|
|
|
NC_000008.11:g.(?_60741413)_(60865953_?)del
|
|
|
NC_000008.11:g.(?_60741413)_(60865953_?)dup
|
|
|
NC_000011.10:g.61969097_61969098insGA
|
|
|
NG_007009.1:g.138884_149300del
|
|
|
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])
|
rs1064793252
|
|
NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Arg121_Asp122insAlaArgHisArg)
|
rs1592047560
|
|
NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val)
|
rs1373790479
|
|
NM_001429.4(EP300):c.3262-2A>G
|
rs1555910114
|
|
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs)
|
rs1555190375
|
|
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=)
|
rs965528935
|
|
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter)
|
rs965528935
|
|
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
|
|
|
NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)
|
|
|
NM_012431.3(SEMA3E):c.1025G>A (p.Cys342Tyr)
|
|
|
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
|
|
|
NM_012431.3(SEMA3E):c.1034A>G (p.His345Arg)
|
|
|
NM_012431.3(SEMA3E):c.1046T>C (p.Ile349Thr)
|
|
|
NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)
|
|
|
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
|
|
|
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
|
rs373965521
|
|
NM_012431.3(SEMA3E):c.1085G>A (p.Gly362Glu)
|
|
|
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
|
|
|
NM_012431.3(SEMA3E):c.1099T>C (p.Trp367Arg)
|
|
|
NM_012431.3(SEMA3E):c.1120G>A (p.Val374Ile)
|
rs1788253309
|
|
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=)
|
rs2115627595
|
|
NM_012431.3(SEMA3E):c.112A>C (p.Lys38Gln)
|
|
|
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
|
|
|
NM_012431.3(SEMA3E):c.1138G>C (p.Gly380Arg)
|
|
|
NM_012431.3(SEMA3E):c.1143+15A>G
|
|
|
NM_012431.3(SEMA3E):c.1143+17A>G
|
|
|
NM_012431.3(SEMA3E):c.1144-12C>T
|
|
|
NM_012431.3(SEMA3E):c.1144-13A>G
|
|
|
NM_012431.3(SEMA3E):c.1144-15C>A
|
|
|
NM_012431.3(SEMA3E):c.1144-19_1144-15del
|
rs755190119
|
|
NM_012431.3(SEMA3E):c.1144-7T>C
|
rs1370491845
|
|
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
|
|
|
NM_012431.3(SEMA3E):c.115+4G>A
|
|
|
NM_012431.3(SEMA3E):c.1154A>G (p.Lys385Arg)
|
|
|
NM_012431.3(SEMA3E):c.116-10T>A
|
rs1562804630
|
|
NM_012431.3(SEMA3E):c.116-16T>A
|
rs771714740
|
|
NM_012431.3(SEMA3E):c.116-7A>T
|
rs2115977179
|
|
NM_012431.3(SEMA3E):c.1171T>C (p.Tyr391His)
|
rs2115617387
|
|
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser)
|
rs1027331615
|
|
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
|
|
|
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
|
|
|
NM_012431.3(SEMA3E):c.11C>T (p.Ala4Val)
|
|
|
NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)
|
|
|
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly)
|
rs1584221582
|
|
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn)
|
rs769258588
|
|
NM_012431.3(SEMA3E):c.1233G>A (p.Met411Ile)
|
rs2115616756
|
|
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=)
|
rs2115977130
|
|
NM_012431.3(SEMA3E):c.1240G>A (p.Ala414Thr)
|
|
|
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
|
rs1180431769
|
|
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=)
|
rs2115616642
|
|
NM_012431.3(SEMA3E):c.1259A>G (p.Lys420Arg)
|
|
|
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
|
|
|
NM_012431.3(SEMA3E):c.1264C>A (p.Pro422Thr)
|
|
|
NM_012431.3(SEMA3E):c.1269A>G (p.Ile423Met)
|
|
|
NM_012431.3(SEMA3E):c.1273G>A (p.Val425Ile)
|
|
|
NM_012431.3(SEMA3E):c.1295A>G (p.Asn432Ser)
|
|
|
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys)
|
rs769637710
|
|
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
|
rs781593656
|
|
NM_012431.3(SEMA3E):c.1319G>A (p.Arg440Gln)
|
|
|
NM_012431.3(SEMA3E):c.1324G>C (p.Glu442Gln)
|
|
|
NM_012431.3(SEMA3E):c.1341A>C (p.Gln447His)
|
|
|
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
|
rs149235216
|
|
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val)
|
rs1788206837
|
|
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=)
|
rs148072082
|
|
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
|
|
|
NM_012431.3(SEMA3E):c.1366+11G>T
|
|
|
NM_012431.3(SEMA3E):c.1366+1G>T
|
|
|
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
|
|
|
NM_012431.3(SEMA3E):c.1367-20C>T
|
|
|
NM_012431.3(SEMA3E):c.1367-7C>T
|
rs2115601484
|
|
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=)
|
rs139043841
|
|
NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)
|
|
|
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
|
|
|
NM_012431.3(SEMA3E):c.1393A>C (p.Thr465Pro)
|
|
|
NM_012431.3(SEMA3E):c.1404C>G (p.Asn468Lys)
|
|
|
NM_012431.3(SEMA3E):c.1405C>G (p.Gln469Glu)
|
|
|
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
|
rs575712751
|
|
NM_012431.3(SEMA3E):c.1444C>A (p.Leu482Ile)
|
|
|
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met)
|
rs1788128084
|
|
NM_012431.3(SEMA3E):c.1458+11C>T
|
|
|
NM_012431.3(SEMA3E):c.1458+19A>G
|
rs2115600702
|
|
NM_012431.3(SEMA3E):c.1458+1G>T
|
|
|
NM_012431.3(SEMA3E):c.1459-11del
|
|
|
NM_012431.3(SEMA3E):c.1459-11dup
|
rs1788078377
|
|
NM_012431.3(SEMA3E):c.1459-12_1459-11del
|
rs1788078377
|
|
NM_012431.3(SEMA3E):c.1459-17del
|
rs2115589623
|
|
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
|
|
|
NM_012431.3(SEMA3E):c.1462C>G (p.Pro488Ala)
|
|
|
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
|
|
|
NM_012431.3(SEMA3E):c.1484A>C (p.Glu495Ala)
|
|
|
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
|
|
|
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp)
|
rs111300014
|
|
NM_012431.3(SEMA3E):c.1500+16G>A
|
|
|
NM_012431.3(SEMA3E):c.1500+6T>C
|
|
|
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
|
rs767115234
|
|
NM_012431.3(SEMA3E):c.1506G>C (p.Gln502His)
|
|
|
NM_012431.3(SEMA3E):c.150T>C (p.His50=)
|
|
|
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=)
|
rs1788042634
|
|
NM_012431.3(SEMA3E):c.1550A>G (p.His517Arg)
|
|
|
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
|
|
|
NM_012431.3(SEMA3E):c.1563G>A (p.Met521Ile)
|
|
|
NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys)
|
|
|
NM_012431.3(SEMA3E):c.157T>G (p.Phe53Val)
|
|
|
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
|
|
|
NM_012431.3(SEMA3E):c.161G>A (p.Gly54Glu)
|
|
|
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
|
|
|
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)
|
rs2115581814
|
|
NM_012431.3(SEMA3E):c.1636C>T (p.Arg546Trp)
|
|
|
NM_012431.3(SEMA3E):c.1657C>G (p.His553Asp)
|
|
|
NM_012431.3(SEMA3E):c.1667+8G>A
|
|
|
NM_012431.3(SEMA3E):c.1667+8G>T
|
|
|
NM_012431.3(SEMA3E):c.1668-10T>G
|
rs1284168796
|
|
NM_012431.3(SEMA3E):c.1668-18G>T
|
rs771755120
|
|
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
|
|
|
NM_012431.3(SEMA3E):c.1691G>A (p.Arg564Gln)
|
|
|
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu)
|
rs1787895198
|
|
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=)
|
rs1584209229
|
|
NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro)
|
|
|
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=)
|
rs2116918980
|
|
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
|
rs776901860
|
|
NM_012431.3(SEMA3E):c.1735+17C>T
|
|
|
NM_012431.3(SEMA3E):c.1736-13G>T
|
rs1296337014
|
|
NM_012431.3(SEMA3E):c.1736-9C>T
|
|
|
NM_012431.3(SEMA3E):c.1736G>T (p.Gly579Val)
|
|
|
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val)
|
rs754158945
|
|
NM_012431.3(SEMA3E):c.1745T>C (p.Leu582Ser)
|
|
|
NM_012431.3(SEMA3E):c.1748A>G (p.Asp583Gly)
|
|
|
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
|
rs1166890439
|
|
NM_012431.3(SEMA3E):c.1803A>C (p.Glu601Asp)
|
|
|
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
|
|
|
NM_012431.3(SEMA3E):c.1811C>T (p.Pro604Leu)
|
|
|
NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln)
|
|
|
NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter)
|
|
|
NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu)
|
|
|
NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly)
|
rs778141353
|
|
NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln)
|
|
|
NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile)
|
|
|
NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val)
|
|
|
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe)
|
rs560983031
|
|
NM_012431.3(SEMA3E):c.1834del (p.Ile612fs)
|
|
|
NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg)
|
|
|
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
|
|
|
NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala)
|
|
|
NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys)
|
|
|
NM_012431.3(SEMA3E):c.1875+15C>A
|
rs1325542892
|
|
NM_012431.3(SEMA3E):c.1875+17T>G
|
|
|
NM_012431.3(SEMA3E):c.1875+19T>C
|
|
|
NM_012431.3(SEMA3E):c.1875+20T>G
|
|
|
NM_012431.3(SEMA3E):c.1876-14T>A
|
rs891019060
|
|
NM_012431.3(SEMA3E):c.1876-4G>T
|
rs1321372061
|
|
NM_012431.3(SEMA3E):c.1876-5T>C
|
rs1794699166
|
|
NM_012431.3(SEMA3E):c.1876-8T>C
|
|
|
NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met)
|
rs2116892550
|
|
NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)
|
|
|
NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu)
|
|
|
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
|
|
|
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser)
|
rs900496407
|
|
NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln)
|
rs1421745476
|
|
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile)
|
rs1794698535
|
|
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=)
|
rs1794698394
|
|
NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)
|
|
|
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
|
|
|
NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala)
|
rs2116892427
|
|
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
|
|
|
NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)
|
|
|
NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)
|
|
|
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
|
|
|
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
|
|
|
NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)
|
|
|
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
|
|
|
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
|
|
|
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)
|
rs775000046
|
|
NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys)
|
|
|
NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)
|
|
|
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
|
|
|
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=)
|
rs757700378
|
|
NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)
|
|
|
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
|
|
|
NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met)
|
rs2116892082
|
|
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
|
|
|
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu)
|
rs371960755
|
|
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)
|
rs375211355
|
|
NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp)
|
rs879255398
|
|
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)
|
rs372156795
|
|
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
|
|
|
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter)
|
rs752107396
|
|
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=)
|
rs2116891865
|
|
NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)
|
|
|
NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)
|
|
|
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
|
rs200621696
|
|
NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)
|
|
|
NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys)
|
rs750426538
|
|
NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)
|
|
|
NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu)
|
rs2116891755
|
|
NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)
|
|
|
NM_012431.3(SEMA3E):c.223A>G (p.Arg75Gly)
|
|
|
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
|
|
|
NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)
|
|
|
NM_012431.3(SEMA3E):c.228C>A (p.Asp76Glu)
|
|
|
NM_012431.3(SEMA3E):c.229C>T (p.Leu77Phe)
|
|
|
NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)
|
|
|
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=)
|
rs2116891596
|
|
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)
|
rs2116891594
|
|
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=)
|
rs1199344717
|
|
NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)
|
|
|
NM_012431.3(SEMA3E):c.249G>T (p.Leu83Phe)
|
rs2115976438
|
|
NM_012431.3(SEMA3E):c.25A>G (p.Thr9Ala)
|
|
|
NM_012431.3(SEMA3E):c.265G>C (p.Gly89Arg)
|
|
|
NM_012431.3(SEMA3E):c.266G>C (p.Gly89Ala)
|
|
|
NM_012431.3(SEMA3E):c.276+10T>C
|
|
|
NM_012431.3(SEMA3E):c.277-13_277-2dup
|
|
|
NM_012431.3(SEMA3E):c.277A>T (p.Ile93Leu)
|
|
|
NM_012431.3(SEMA3E):c.281A>G (p.His94Arg)
|
|
|
NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)
|
|
|
NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu)
|
|
|
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
|
|
|
NM_012431.3(SEMA3E):c.289A>T (p.Ser97Cys)
|
rs1445294085
|
|
NM_012431.3(SEMA3E):c.306G>A (p.Met102Ile)
|
|
|
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
|
|
|
NM_012431.3(SEMA3E):c.316A>G (p.Ile106Val)
|
|
|
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
|
rs1429296509
|
|
NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu)
|
|
|
NM_012431.3(SEMA3E):c.336+14A>G
|
|
|
NM_012431.3(SEMA3E):c.336+15T>C
|
|
|
NM_012431.3(SEMA3E):c.337-11del
|
rs536827692
|
|
NM_012431.3(SEMA3E):c.337-11dup
|
rs536827692
|
|
NM_012431.3(SEMA3E):c.337-18C>G
|
|
|
NM_012431.3(SEMA3E):c.337-1G>C
|
rs1311561381
|
|
NM_012431.3(SEMA3E):c.337-9C>T
|
rs1352755933
|
|
NM_012431.3(SEMA3E):c.344G>A (p.Cys115Tyr)
|
rs2115880845
|
|
NM_012431.3(SEMA3E):c.352T>C (p.Tyr118His)
|
rs1419581021
|
|
NM_012431.3(SEMA3E):c.358C>T (p.Arg120Trp)
|
|
|
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
|
rs1487949587
|
|
NM_012431.3(SEMA3E):c.37T>C (p.Trp13Arg)
|
|
|
NM_012431.3(SEMA3E):c.383C>A (p.Thr128Lys)
|
|
|
NM_012431.3(SEMA3E):c.387_388insAATAAAAACAATGCTTAAAACAACCTTGTTCTCAAAGAAAGACTACAGCATTT (p.Leu130delinsAsnLysAsnAsnAlaTer)
|
|
|
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=)
|
rs1584267738
|
|
NM_012431.3(SEMA3E):c.39G>A (p.Trp13Ter)
|
|
|
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
|
|
|
NM_012431.3(SEMA3E):c.41G>T (p.Gly14Val)
|
|
|
NM_012431.3(SEMA3E):c.433A>G (p.Ile145Val)
|
|
|
NM_012431.3(SEMA3E):c.439G>T (p.Val147Phe)
|
|
|
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His)
|
rs1789759218
|
|
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
|
rs1789759019
|
|
NM_012431.3(SEMA3E):c.456+11T>A
|
|
|
NM_012431.3(SEMA3E):c.456+5G>A
|
|
|
NM_012431.3(SEMA3E):c.461C>T (p.Pro154Leu)
|
|
|
NM_012431.3(SEMA3E):c.482C>A (p.Pro161His)
|
|
|
NM_012431.3(SEMA3E):c.494G>A (p.Arg165Lys)
|
|
|
NM_012431.3(SEMA3E):c.508T>A (p.Cys170Ser)
|
|
|
NM_012431.3(SEMA3E):c.517G>T (p.Asp173Tyr)
|
rs1562773446
|
|
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
|
|
|
NM_012431.3(SEMA3E):c.532T>G (p.Phe178Val)
|
|
|
NM_012431.3(SEMA3E):c.535A>G (p.Ile179Val)
|
|
|
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=)
|
rs944160895
|
|
NM_012431.3(SEMA3E):c.550+14C>T
|
|
|
NM_012431.3(SEMA3E):c.550+17C>T
|
|
|
NM_012431.3(SEMA3E):c.550+5T>C
|
|
|
NM_012431.3(SEMA3E):c.550+6T>A
|
rs1788600213
|
|
NM_012431.3(SEMA3E):c.551-11C>T
|
|
|
NM_012431.3(SEMA3E):c.551-14A>G
|
|
|
NM_012431.3(SEMA3E):c.551-14A>T
|
|
|
NM_012431.3(SEMA3E):c.551-18A>G
|
rs774812464
|
|
NM_012431.3(SEMA3E):c.551-19del
|
|
|
NM_012431.3(SEMA3E):c.551-3T>G
|
rs1351334262
|
|
NM_012431.3(SEMA3E):c.551-4G>A
|
rs1788369989
|
|
NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)
|
|
|
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
|
|
|
NM_012431.3(SEMA3E):c.56T>G (p.Leu19Arg)
|
|
|
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=)
|
rs1788369340
|
|
NM_012431.3(SEMA3E):c.590G>A (p.Ser197Asn)
|
|
|
NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val)
|
|
|
NM_012431.3(SEMA3E):c.603_604delinsTG (p.Ile202Val)
|
rs2115654865
|
|
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu)
|
|
|
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
|
|
|
NM_012431.3(SEMA3E):c.611G>A (p.Arg204His)
|
|
|
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=)
|
rs2115654801
|
|
NM_012431.3(SEMA3E):c.621del (p.Arg208fs)
|
rs2115654665
|
|
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
|
|
|
NM_012431.3(SEMA3E):c.638G>A (p.Arg213His)
|
|
|
NM_012431.3(SEMA3E):c.646C>T (p.His216Tyr)
|
|
|
NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn)
|
|
|
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
|
|
|
NM_012431.3(SEMA3E):c.658C>T (p.Arg220Cys)
|
|
|
NM_012431.3(SEMA3E):c.670+11G>A
|
|
|
NM_012431.3(SEMA3E):c.670+20T>C
|
|
|
NM_012431.3(SEMA3E):c.670+8T>A
|
|
|
NM_012431.3(SEMA3E):c.671-16T>C
|
|
|
NM_012431.3(SEMA3E):c.671-19C>T
|
rs375797663
|
|
NM_012431.3(SEMA3E):c.671-1G>C
|
|
|
NM_012431.3(SEMA3E):c.671-2A>G
|
|
|
NM_012431.3(SEMA3E):c.671-7C>T
|
rs1255502131
|
|
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=)
|
rs2115649282
|
|
NM_012431.3(SEMA3E):c.707A>G (p.Asn236Ser)
|
|
|
NM_012431.3(SEMA3E):c.707A>T (p.Asn236Ile)
|
|
|
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
|
|
|
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly)
|
rs1554320716
|
|
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr)
|
rs1295531534
|
|
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr)
|
rs777910966
|
|
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
|
|
|
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
|
|
|
NM_012431.3(SEMA3E):c.733T>G (p.Tyr245Asp)
|
rs2115649014
|
|
NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro)
|
|
|
NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)
|
|
|
NM_012431.3(SEMA3E):c.780C>T (p.His260=)
|
rs533306215
|
|
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)
|
rs773917768
|
|
NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro)
|
|
|
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=)
|
rs1467250504
|
|
NM_012431.3(SEMA3E):c.793A>G (p.Arg265Gly)
|
rs2115648631
|
|
NM_012431.3(SEMA3E):c.795G>T (p.Arg265Ser)
|
rs2115648620
|
|
NM_012431.3(SEMA3E):c.799G>A (p.Gly267Arg)
|
|
|
NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)
|
|
|
NM_012431.3(SEMA3E):c.803G>A (p.Arg268Gln)
|
|
|
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
|
|
|
NM_012431.3(SEMA3E):c.809G>C (p.Cys270Ser)
|
|
|
NM_012431.3(SEMA3E):c.813+10TC[3]
|
|
|
NM_012431.3(SEMA3E):c.813+20_813+22del
|
|
|
NM_012431.3(SEMA3E):c.813+6G>A
|
|
|
NM_012431.3(SEMA3E):c.814-18C>G
|
rs1027659475
|
|
NM_012431.3(SEMA3E):c.814-20C>T
|
|
|
NM_012431.3(SEMA3E):c.814-9T>C
|
rs1562767558
|
|
NM_012431.3(SEMA3E):c.815A>G (p.Asn272Ser)
|
|
|
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
|
|
|
NM_012431.3(SEMA3E):c.841G>A (p.Val281Met)
|
rs2115643274
|
|
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
|
|
|
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=)
|
rs1584226009
|
|
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=)
|
rs2115643169
|
|
NM_012431.3(SEMA3E):c.868G>A (p.Ala290Thr)
|
|
|
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=)
|
rs756513699
|
|
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
|
|
|
NM_012431.3(SEMA3E):c.901G>A (p.Gly301Arg)
|
|
|
NM_012431.3(SEMA3E):c.907G>A (p.Asp303Asn)
|
|
|
NM_012431.3(SEMA3E):c.907G>C (p.Asp303His)
|
|
|
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
|
|
|
NM_012431.3(SEMA3E):c.928+10T>C
|
|
|
NM_012431.3(SEMA3E):c.928+12T>G
|
|
|
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=)
|
rs2115641011
|
|
NM_012431.3(SEMA3E):c.931G>A (p.Asp311Asn)
|
rs1478459253
|
|
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
|
rs1788311567
|
|
NM_012431.3(SEMA3E):c.956A>G (p.Asp319Gly)
|
|
|
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu)
|
rs763045418
|
|
NM_012431.3(SEMA3E):c.960T>A (p.His320Gln)
|
|
|
NM_012431.3(SEMA3E):c.975dup (p.Phe326fs)
|
|
|
NM_012431.3(SEMA3E):c.988A>C (p.Asn330His)
|
|
|
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser)
|
rs1554320452
|
|
NM_012431.3(SEMA3E):c.998+15C>T
|
|
|
NM_012431.3(SEMA3E):c.998+9T>G
|
|
|
NM_012431.3(SEMA3E):c.999-12dup
|
rs1418610753
|
|
NM_012431.3(SEMA3E):c.999-19T>C
|
rs2115628543
|
|
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)
|
|
|
NM_017780.4(CHD7):c.*127del
|
rs11322994
|
|
NM_017780.4(CHD7):c.*1663AG[1]
|
rs761460675
|
|
NM_017780.4(CHD7):c.*338del
|
rs886063045
|
|
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.-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.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.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+20A>C
|
|
|
NM_017780.4(CHD7):c.1666-16T>C
|
|
|
NM_017780.4(CHD7):c.1666-20T>C
|
|
|
NM_017780.4(CHD7):c.1666-5C>A
|
|
|
NM_017780.4(CHD7):c.1671C>T (p.Ser557=)
|
|
|
NM_017780.4(CHD7):c.1674G>A (p.Pro558=)
|
|
|
NM_017780.4(CHD7):c.1674G>C (p.Pro558=)
|
|
|
NM_017780.4(CHD7):c.1674G>T (p.Pro558=)
|
rs763024481
|
|
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu)
|
rs1402410171
|
|
NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys)
|
|
|
NM_017780.4(CHD7):c.1678dup (p.Glu560fs)
|
rs797045461
|
|
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)
|
rs1231245538
|
|
NM_017780.4(CHD7):c.1697del (p.Pro566fs)
|
|
|
NM_017780.4(CHD7):c.1698A>G (p.Pro566=)
|
rs727503862
|
|
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu)
|
rs1694045574
|
|
NM_017780.4(CHD7):c.1708A>G (p.Met570Val)
|
|
|
NM_017780.4(CHD7):c.1716G>C (p.Gln572His)
|
|
|
NM_017780.4(CHD7):c.1717G>T (p.Val573Phe)
|
|
|
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
|
|
|
NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn)
|
|
|
NM_017780.4(CHD7):c.1722T>G (p.Ser574Arg)
|
|
|
NM_017780.4(CHD7):c.1725A>G (p.Gly575=)
|
rs2150669175
|
|
NM_017780.4(CHD7):c.1728G>A (p.Pro576=)
|
rs754836392
|
|
NM_017780.4(CHD7):c.1735C>A (p.Gln579Lys)
|
rs780953224
|
|
NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)
|
|
|
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter)
|
rs780953224
|
|
NM_017780.4(CHD7):c.1740A>G (p.Leu580=)
|
|
|
NM_017780.4(CHD7):c.1751A>T (p.Asp584Val)
|
rs1811198841
|
|
NM_017780.4(CHD7):c.1759C>T (p.Leu587=)
|
|
|
NM_017780.4(CHD7):c.1761G>T (p.Leu587=)
|
|
|
NM_017780.4(CHD7):c.1762C>T (p.Pro588Ser)
|
|
|
NM_017780.4(CHD7):c.1774C>A (p.Gln592Lys)
|
rs2150669323
|
|
NM_017780.4(CHD7):c.1774_1778del (p.Gln592fs)
|
rs2150669316
|
|
NM_017780.4(CHD7):c.1784A>T (p.Gln595Leu)
|
rs2150669341
|
|
NM_017780.4(CHD7):c.1785A>G (p.Gln595=)
|
|
|
NM_017780.4(CHD7):c.1791GAA[2] (p.Lys602del)
|
rs757119372
|
|
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg)
|
rs1467028739
|
|
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs)
|
rs1554588671
|
|
NM_017780.4(CHD7):c.1808del (p.Asn603fs)
|
|
|
NM_017780.4(CHD7):c.1811A>G (p.Asn604Ser)
|
rs1811204503
|
|
NM_017780.4(CHD7):c.1812C>T (p.Asn604=)
|
|
|
NM_017780.4(CHD7):c.1819G>A (p.Val607Ile)
|
|
|
NM_017780.4(CHD7):c.1835G>A (p.Ser612Asn)
|
rs1811206668
|
|
NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys)
|
|
|
NM_017780.4(CHD7):c.1848del (p.Asp618fs)
|
rs1811207509
|
|
NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn)
|
|
|
NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser)
|
|
|
NM_017780.4(CHD7):c.1862C>A (p.Pro621His)
|
rs1229088933
|
|
NM_017780.4(CHD7):c.1865G>C (p.Gly622Ala)
|
|
|
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)
|
|
|
NM_017780.4(CHD7):c.1870G>A (p.Val624Ile)
|
|
|
NM_017780.4(CHD7):c.1871del (p.Val624fs)
|
rs2150669574
|
|
NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys)
|
|
|
NM_017780.4(CHD7):c.1886T>C (p.Leu629Pro)
|
|
|
NM_017780.4(CHD7):c.18G>T (p.Met6Ile)
|
|
|
NM_017780.4(CHD7):c.1903G>C (p.Asp635His)
|
|
|
NM_017780.4(CHD7):c.1918_1919delinsTT (p.Glu640Leu)
|
|
|
NM_017780.4(CHD7):c.191_194del (p.Thr64fs)
|
rs587783431
|
|
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup)
|
rs1563595031
|
|
NM_017780.4(CHD7):c.1925del (p.Lys642fs)
|
rs1554588712
|
|
NM_017780.4(CHD7):c.1928A>C (p.Lys643Thr)
|
|
|
NM_017780.4(CHD7):c.1931del (p.Lys644fs)
|
rs2150669764
|
|
NM_017780.4(CHD7):c.1936dup (p.Arg646fs)
|
rs2150669783
|
|
NM_017780.4(CHD7):c.1944G>C (p.Lys648Asn)
|
|
|
NM_017780.4(CHD7):c.1945G>A (p.Ala649Thr)
|
rs1811215623
|
|
NM_017780.4(CHD7):c.1947A>C (p.Ala649=)
|
|
|
NM_017780.4(CHD7):c.1948A>G (p.Lys650Glu)
|
|
|
NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer)
|
rs1563595095
|
|
NM_017780.4(CHD7):c.1952A>C (p.Lys651Thr)
|
|
|
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs)
|
rs1563595101
|
|
NM_017780.4(CHD7):c.1953dup (p.Asp652fs)
|
rs2150669843
|
|
NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu)
|
|
|
NM_017780.4(CHD7):c.1957C>G (p.Pro653Ala)
|
|
|
NM_017780.4(CHD7):c.1957C>T (p.Pro653Ser)
|
|
|
NM_017780.4(CHD7):c.1958C>G (p.Pro653Arg)
|
rs200536932
|
|
NM_017780.4(CHD7):c.1962G>C (p.Lys654Asn)
|
|
|
NM_017780.4(CHD7):c.1971A>G (p.Lys657=)
|
|
|
NM_017780.4(CHD7):c.1977del (p.Lys660fs)
|
rs2150669944
|
|
NM_017780.4(CHD7):c.1980G>A (p.Lys660=)
|
rs2150669967
|
|
NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs)
|
rs2150669923
|
|
NM_017780.4(CHD7):c.1989dup (p.Glu664fs)
|
rs2150669971
|
|
NM_017780.4(CHD7):c.1996A>G (p.Lys666Glu)
|
|
|
NM_017780.4(CHD7):c.2004C>T (p.Pro668=)
|
|
|
NM_017780.4(CHD7):c.2005A>G (p.Lys669Glu)
|
rs2150670002
|
|
NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn)
|
|
|
NM_017780.4(CHD7):c.2009C>G (p.Thr670Ser)
|
|
|
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu)
|
rs370588681
|
|
NM_017780.4(CHD7):c.2017G>A (p.Ala673Thr)
|
|
|
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
|
|
|
NM_017780.4(CHD7):c.2022T>C (p.Pro674=)
|
|
|
NM_017780.4(CHD7):c.2037G>A (p.Glu679=)
|
|
|
NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg)
|
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)
|
rs755898600
|
|
NM_017780.4(CHD7):c.2075C>G (p.Pro692Arg)
|
|
|
NM_017780.4(CHD7):c.2076C>T (p.Pro692=)
|
|
|
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu)
|
rs1809021019
|
|
NM_017780.4(CHD7):c.2090del (p.Lys697fs)
|
rs1563595385
|
|
NM_017780.4(CHD7):c.2096+1del
|
rs2150670337
|
|
NM_017780.4(CHD7):c.2096+21dup
|
rs111577577
|
|
NM_017780.4(CHD7):c.2096+23_2096+25del
|
rs1811226936
|
|
NM_017780.4(CHD7):c.2096+8G>A
|
|
|
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn)
|
rs1563595388
|
|
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.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.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.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>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.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.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.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.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.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.2910_2925del (p.Glu970_Tyr971insTer)
|
rs1554597507
|
|
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.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.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.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.3779-13C>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.3990-8T>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.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.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+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.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.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.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.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.5211-14G>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.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.5337T>C (p.Ala1779=)
|
|
|
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=)
|
rs2150801685
|
|
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.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.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>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.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.5480del (p.Lys1827fs)
|
|
|
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=)
|
|
|
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.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.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.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>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.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.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.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.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.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.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.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.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.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.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.7165-3T>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.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.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.7831-5T>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.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.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.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.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.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=)
|
|
|
NM_078480.3(PUF60):c.389G>A (p.Arg130His)
|
rs1554643584
|
|