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.276+3966C>G
|
rs2255715
|
0.45623
|
NM_000061.3(BTK):c.1899C>T (p.Cys633=)
|
rs1135363
|
0.37760
|
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=)
|
rs2722974
|
0.35335
|
NM_000475.5(NR0B1):c.498G>A (p.Arg166=)
|
rs2269345
|
0.28771
|
NM_025000.4(DCAF17):c.150C>T (p.Val50=)
|
rs6751956
|
0.28531
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_025000.4(DCAF17):c.999A>G (p.Gln333=)
|
rs3731983
|
0.19825
|
NM_025000.4(DCAF17):c.1267-7C>T
|
rs3731981
|
0.19769
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
NM_000475.5(NR0B1):c.114C>T (p.Cys38=)
|
rs6150
|
0.14452
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
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_003865.3(HESX1):c.374A>G (p.Asn125Ser)
|
rs9878928
|
0.07568
|
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=)
|
rs11547779
|
0.06867
|
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr)
|
rs2289189
|
0.06844
|
NM_012414.4(RAB3GAP2):c.1041-18A>C
|
rs73098579
|
0.04963
|
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala)
|
rs12045447
|
0.04740
|
NM_025000.4(DCAF17):c.939G>A (p.Gln313=)
|
rs61731491
|
0.04289
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_012414.4(RAB3GAP2):c.713-12T>C
|
rs76473498
|
0.03857
|
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=)
|
rs61636768
|
0.03837
|
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=)
|
rs2577126
|
0.03652
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
NM_025000.4(DCAF17):c.555T>A (p.His185Gln)
|
rs3731984
|
0.03047
|
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val)
|
rs61729610
|
0.02589
|
NM_000061.3(BTK):c.954T>C (p.Ser318=)
|
rs5991926
|
0.01964
|
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_000061.3(BTK):c.531T>C (p.Pro177=)
|
rs148358153
|
0.00738
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
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_012414.4(RAB3GAP2):c.961-14G>T
|
rs148886986
|
0.00475
|
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_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)
|
rs142204796
|
0.00396
|
NM_012414.4(RAB3GAP2):c.1779+7G>A
|
rs111345353
|
0.00390
|
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_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=)
|
rs73098539
|
0.00338
|
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_000475.5(NR0B1):c.588G>A (p.Leu196=)
|
rs138855021
|
0.00231
|
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_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=)
|
rs150226729
|
0.00206
|
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=)
|
rs201132710
|
0.00187
|
NM_025000.4(DCAF17):c.127-15C>A
|
rs146556466
|
0.00184
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
NM_000475.5(NR0B1):c.870C>T (p.Cys290=)
|
rs137987391
|
0.00168
|
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_012414.4(RAB3GAP2):c.39C>T (p.Asp13=)
|
rs145667920
|
0.00149
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=)
|
rs3731980
|
0.00143
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)
|
rs191365011
|
0.00118
|
NM_003865.3(HESX1):c.90C>T (p.Asp30=)
|
rs115448575
|
0.00117
|
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
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_025000.4(DCAF17):c.459-19_459-17del
|
rs546878583
|
0.00095
|
NM_012414.4(RAB3GAP2):c.3867+13C>T
|
rs200579008
|
0.00087
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
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_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_012414.4(RAB3GAP2):c.3226-18T>G
|
rs139628150
|
0.00061
|
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)
|
rs186628513
|
0.00056
|
NM_017780.4(CHD7):c.5300+8C>T
|
rs151322460
|
0.00055
|
NM_012414.4(RAB3GAP2):c.613-14T>A
|
rs374690916
|
0.00053
|
NM_025000.4(DCAF17):c.537+16C>T
|
rs142462938
|
0.00052
|
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)
|
rs374877439
|
0.00051
|
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile)
|
rs149842844
|
0.00050
|
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)
|
rs202020722
|
0.00048
|
NM_000061.3(BTK):c.1698G>A (p.Pro566=)
|
rs3208812
|
0.00044
|
NM_017780.4(CHD7):c.360C>T (p.Gly120=)
|
rs375438732
|
0.00043
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
NM_012414.4(RAB3GAP2):c.2807-15G>A
|
rs200407685
|
0.00038
|
NM_000061.3(BTK):c.707G>A (p.Arg236Gln)
|
rs147036606
|
0.00036
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
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.1188G>T (p.Met396Ile)
|
rs201653177
|
0.00033
|
NM_000061.3(BTK):c.1701A>G (p.Glu567=)
|
rs146681416
|
0.00032
|
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_000061.3(BTK):c.1252T>C (p.Tyr418His)
|
rs144079566
|
0.00029
|
NM_000061.3(BTK):c.1909-9T>C
|
rs782702231
|
0.00029
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
NM_000061.3(BTK):c.625G>T (p.Ala209Ser)
|
rs138352992
|
0.00028
|
NM_017780.4(CHD7):c.444G>A (p.Arg148=)
|
rs376455384
|
0.00028
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_017780.4(CHD7):c.1473C>T (p.Ile491=)
|
rs182294889
|
0.00019
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)
|
rs370972259
|
0.00017
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala)
|
rs200436490
|
0.00014
|
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=)
|
rs140146408
|
0.00014
|
NM_017780.4(CHD7):c.4645-9T>C
|
rs766575601
|
0.00014
|
NM_025000.4(DCAF17):c.1266+14C>T
|
rs185407539
|
0.00014
|
NM_017780.4(CHD7):c.1423A>G (p.Met475Val)
|
rs773039925
|
0.00013
|
NM_000061.3(BTK):c.1566+18T>C
|
rs367698178
|
0.00012
|
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys)
|
rs770842444
|
0.00012
|
NM_000475.5(NR0B1):c.96G>C (p.Thr32=)
|
rs752999448
|
0.00012
|
NM_017780.4(CHD7):c.1203A>G (p.Ala401=)
|
rs147960212
|
0.00012
|
NM_000061.3(BTK):c.1104A>G (p.Gly368=)
|
rs781940603
|
0.00011
|
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)
|
rs761749382
|
0.00011
|
NM_017780.4(CHD7):c.2273G>A (p.Arg758His)
|
rs202208393
|
0.00011
|
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser)
|
rs368224943
|
0.00011
|
NM_000061.3(BTK):c.895-10G>A
|
rs370812397
|
0.00010
|
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg)
|
rs200907656
|
0.00010
|
NM_017780.4(CHD7):c.2182G>C (p.Asp728His)
|
rs756365280
|
0.00009
|
NM_017780.4(CHD7):c.608A>G (p.His203Arg)
|
rs375277827
|
0.00009
|
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.3778+17C>T
|
rs111863846
|
0.00008
|
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=)
|
rs373869399
|
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.8250T>G (p.Phe2750Leu)
|
rs3750308
|
0.00008
|
NM_000061.3(BTK):c.1977C>T (p.Ser659=)
|
rs782047787
|
0.00007
|
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala)
|
rs746837682
|
0.00007
|
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser)
|
rs147164392
|
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.8692A>G (p.Met2898Val)
|
rs755028719
|
0.00007
|
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser)
|
rs143286302
|
0.00006
|
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr)
|
rs749781761
|
0.00006
|
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala)
|
rs377662366
|
0.00006
|
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys)
|
rs377330239
|
0.00006
|
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val)
|
rs61737194
|
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.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr)
|
rs537091457
|
0.00006
|
NM_000061.3(BTK):c.1103-11C>G
|
rs782217532
|
0.00005
|
NM_000061.3(BTK):c.1750+10T>C
|
rs374131821
|
0.00005
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)
|
rs766116884
|
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.1966C>T (p.Pro656Ser)
|
rs769003426
|
0.00005
|
NM_017780.4(CHD7):c.2675G>A (p.Arg892His)
|
rs200188105
|
0.00005
|
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr)
|
rs771781756
|
0.00005
|
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn)
|
rs370599133
|
0.00005
|
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=)
|
rs376993840
|
0.00005
|
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg)
|
rs765315726
|
0.00005
|
NM_000061.3(BTK):c.1276G>A (p.Asp426Asn)
|
rs782813365
|
0.00004
|
NM_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
0.00004
|
NM_017780.4(CHD7):c.1029C>T (p.Ser343=)
|
rs570815501
|
0.00004
|
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe)
|
rs373112189
|
0.00004
|
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu)
|
rs746633621
|
0.00004
|
NM_017780.4(CHD7):c.2498+12G>T
|
rs557099951
|
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.4859G>A (p.Arg1620Gln)
|
rs768497646
|
0.00004
|
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=)
|
rs191081055
|
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.5440G>A (p.Ala1814Thr)
|
rs368609862
|
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.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.6571G>A (p.Glu2191Lys)
|
rs727503867
|
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.7253G>A (p.Arg2418Gln)
|
rs761410781
|
0.00004
|
NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln)
|
rs563360548
|
0.00004
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
NM_017780.4(CHD7):c.8595G>A (p.Ser2865=)
|
rs757002335
|
0.00004
|
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
0.00003
|
NM_012431.3(SEMA3E):c.551-6G>A
|
rs535143722
|
0.00003
|
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys)
|
rs767302034
|
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.2758C>T (p.Arg920Trp)
|
rs773773546
|
0.00003
|
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)
|
rs779024959
|
0.00003
|
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys)
|
rs545545721
|
0.00003
|
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)
|
rs200441929
|
0.00003
|
NM_017780.4(CHD7):c.6468C>T (p.Val2156=)
|
rs777858802
|
0.00003
|
NM_017780.4(CHD7):c.6677A>G (p.Asp2226Gly)
|
rs755396598
|
0.00003
|
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
|
rs199966549
|
0.00003
|
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr)
|
rs370231679
|
0.00003
|
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala)
|
rs754831415
|
0.00003
|
NM_000061.3(BTK):c.1350-17C>A
|
rs563329397
|
0.00002
|
NM_000061.3(BTK):c.520+13A>G
|
rs201408619
|
0.00002
|
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)
|
rs201613456
|
0.00002
|
NM_012414.4(RAB3GAP2):c.2417-4A>G
|
rs577016598
|
0.00002
|
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=)
|
rs574901886
|
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.215A>G (p.Tyr72Cys)
|
rs767819417
|
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.296C>T (p.Ala99Val)
|
rs772466277
|
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.3696C>T (p.Gly1232=)
|
rs774107363
|
0.00002
|
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu)
|
rs371385411
|
0.00002
|
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu)
|
rs61742851
|
0.00002
|
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn)
|
rs769563309
|
0.00002
|
NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val)
|
rs753913368
|
0.00002
|
NM_017780.4(CHD7):c.5467A>G (p.Met1823Val)
|
rs769931428
|
0.00002
|
NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu)
|
rs766862122
|
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.7145C>T (p.Thr2382Met)
|
rs189926848
|
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.7702C>T (p.Arg2568Trp)
|
rs775888715
|
0.00002
|
NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr)
|
rs757707495
|
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.8821A>G (p.Lys2941Glu)
|
rs201793562
|
0.00002
|
NM_000061.3(BTK):c.240+7A>C
|
rs782299012
|
0.00001
|
NM_000061.3(BTK):c.520+16G>A
|
rs782819971
|
0.00001
|
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=)
|
rs572970359
|
0.00001
|
NM_003865.3(HESX1):c.183T>C (p.His61=)
|
rs374187836
|
0.00001
|
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=)
|
rs576411922
|
0.00001
|
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala)
|
rs878893652
|
0.00001
|
NM_017780.4(CHD7):c.1141A>G (p.Met381Val)
|
rs144778638
|
0.00001
|
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser)
|
rs1300386910
|
0.00001
|
NM_017780.4(CHD7):c.1327A>G (p.Met443Val)
|
rs559364802
|
0.00001
|
NM_017780.4(CHD7):c.139T>G (p.Phe47Val)
|
rs1364452059
|
0.00001
|
NM_017780.4(CHD7):c.1566C>T (p.Gly522=)
|
rs759347960
|
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.1703C>T (p.Pro568Leu)
|
rs757689264
|
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.2062G>A (p.Ala688Thr)
|
rs1187193827
|
0.00001
|
NM_017780.4(CHD7):c.2063C>T (p.Ala688Val)
|
rs759010289
|
0.00001
|
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys)
|
rs751691380
|
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.3001A>G (p.Ile1001Val)
|
rs375374626
|
0.00001
|
NM_017780.4(CHD7):c.302C>T (p.Pro101Leu)
|
rs769161426
|
0.00001
|
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=)
|
rs201320784
|
0.00001
|
NM_017780.4(CHD7):c.323C>A (p.Pro108His)
|
rs369818702
|
0.00001
|
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln)
|
rs185150226
|
0.00001
|
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala)
|
rs372587744
|
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.528G>A (p.Gly176=)
|
rs986970598
|
0.00001
|
NM_017780.4(CHD7):c.5367A>T (p.Glu1789Asp)
|
rs1233584524
|
0.00001
|
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu)
|
rs751847978
|
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.5789G>A (p.Arg1930Lys)
|
rs535347450
|
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.6195C>T (p.Arg2065=)
|
rs750835437
|
0.00001
|
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr)
|
rs377497122
|
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.6596G>A (p.Ser2199Asn)
|
rs1064794854
|
0.00001
|
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser)
|
rs758745100
|
0.00001
|
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val)
|
rs755973702
|
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.7179C>A (p.Asn2393Lys)
|
rs753446252
|
0.00001
|
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln)
|
rs534510177
|
0.00001
|
NM_017780.4(CHD7):c.733A>G (p.Met245Val)
|
rs768507639
|
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.7673C>T (p.Pro2558Leu)
|
rs776711005
|
0.00001
|
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=)
|
rs576905094
|
0.00001
|
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp)
|
rs1418386669
|
0.00001
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn)
|
rs756347672
|
0.00001
|
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr)
|
rs200140270
|
0.00001
|
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg)
|
rs760775347
|
0.00001
|
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys)
|
rs774843956
|
0.00001
|
NM_017780.4(CHD7):c.8562C>G (p.Asn2854Lys)
|
rs1222693383
|
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.910A>G (p.Ile304Val)
|
rs1274555136
|
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_000061.3(BTK):c.1011T>C (p.Cys337=)
|
|
|
NM_000061.3(BTK):c.1102+7A>G
|
|
|
NM_000061.3(BTK):c.1177+7C>T
|
|
|
NM_000061.3(BTK):c.1178-12C>T
|
|
|
NM_000061.3(BTK):c.1485T>C (p.Thr495=)
|
|
|
NM_000061.3(BTK):c.1539G>A (p.Glu513=)
|
|
|
NM_000061.3(BTK):c.1632-20A>C
|
|
|
NM_000061.3(BTK):c.1751-17T>C
|
|
|
NM_000061.3(BTK):c.240+12_240+24del
|
|
|
NM_000061.3(BTK):c.241-16dup
|
rs1401131061
|
|
NM_000061.3(BTK):c.241-3C>T
|
|
|
NM_000061.3(BTK):c.309+11T>C
|
|
|
NM_000061.3(BTK):c.310-20C>A
|
|
|
NM_000061.3(BTK):c.310-8C>T
|
|
|
NM_000061.3(BTK):c.345C>T (p.Ser115=)
|
rs782476406
|
|
NM_000061.3(BTK):c.414G>T (p.Leu138=)
|
|
|
NM_000061.3(BTK):c.520+15C>G
|
|
|
NM_000061.3(BTK):c.520+15C>T
|
rs782697907
|
|
NM_000061.3(BTK):c.521-5del
|
|
|
NM_000061.3(BTK):c.777-17C>A
|
|
|
NM_000061.3(BTK):c.895-11C>T
|
|
|
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
|
|
|
NM_000475.5(NR0B1):c.1168+10C>G
|
|
|
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
|
|
|
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
|
|
|
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
|
|
|
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
|
|
|
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
|
|
|
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
|
|
|
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
|
|
|
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
|
|
|
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
|
|
|
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
|
|
|
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
|
|
|
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
|
|
|
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
|
|
|
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
|
|
|
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
|
|
|
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
|
|
|
NM_003865.3(HESX1):c.358-6del
|
|
|
NM_003865.3(HESX1):c.358-6dup
|
|
|
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
|
|
|
NM_012414.4(RAB3GAP2):c.2310+13dup
|
|
|
NM_012414.4(RAB3GAP2):c.2578-6dup
|
|
|
NM_012414.4(RAB3GAP2):c.304+12A>G
|
rs530311696
|
|
NM_012414.4(RAB3GAP2):c.3262-4dup
|
|
|
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=)
|
rs539609673
|
|
NM_012414.4(RAB3GAP2):c.613-14del
|
rs572027376
|
|
NM_012414.4(RAB3GAP2):c.613-24dup
|
rs572027376
|
|
NM_012414.4(RAB3GAP2):c.812-6del
|
rs35396665
|
|
NM_012414.4(RAB3GAP2):c.812-6dup
|
rs35396665
|
|
NM_012414.4(RAB3GAP2):c.812-7_812-6del
|
rs35396665
|
|
NM_012431.3(SEMA3E):c.1459-11dup
|
rs1788078377
|
|
NM_012431.3(SEMA3E):c.337-11del
|
rs536827692
|
|
NM_012431.3(SEMA3E):c.337-11dup
|
rs536827692
|
|
NM_012431.3(SEMA3E):c.337-9C>T
|
rs1352755933
|
|
NM_012431.3(SEMA3E):c.551-19del
|
|
|
NM_012431.3(SEMA3E):c.999-12dup
|
rs1418610753
|
|
NM_017780.4(CHD7):c.1032A>G (p.Val344=)
|
|
|
NM_017780.4(CHD7):c.106C>T (p.Pro36Ser)
|
|
|
NM_017780.4(CHD7):c.1095G>C (p.Gln365His)
|
|
|
NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)
|
|
|
NM_017780.4(CHD7):c.1172C>G (p.Ala391Gly)
|
|
|
NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser)
|
|
|
NM_017780.4(CHD7):c.1186A>G (p.Met396Val)
|
|
|
NM_017780.4(CHD7):c.1195A>G (p.Met399Val)
|
|
|
NM_017780.4(CHD7):c.1204A>G (p.Met402Val)
|
|
|
NM_017780.4(CHD7):c.1247G>A (p.Gly416Glu)
|
|
|
NM_017780.4(CHD7):c.1285A>C (p.Asn429His)
|
rs771200821
|
|
NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp)
|
|
|
NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)
|
|
|
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala)
|
rs772369092
|
|
NM_017780.4(CHD7):c.1321G>T (p.Gly441Cys)
|
|
|
NM_017780.4(CHD7):c.1337G>A (p.Gly446Glu)
|
|
|
NM_017780.4(CHD7):c.1376G>A (p.Arg459His)
|
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
NM_017780.4(CHD7):c.1497A>G (p.Gln499=)
|
|
|
NM_017780.4(CHD7):c.1509T>C (p.Gly503=)
|
|
|
NM_017780.4(CHD7):c.1570C>T (p.His524Tyr)
|
|
|
NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys)
|
|
|
NM_017780.4(CHD7):c.1708A>G (p.Met570Val)
|
|
|
NM_017780.4(CHD7):c.1716G>C (p.Gln572His)
|
|
|
NM_017780.4(CHD7):c.18G>T (p.Met6Ile)
|
|
|
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu)
|
rs370588681
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017780.4(CHD7):c.2096+21dup
|
rs111577577
|
|
NM_017780.4(CHD7):c.2097-19G>A
|
rs559713378
|
|
NM_017780.4(CHD7):c.2183A>G (p.Asp728Gly)
|
rs749679283
|
|
NM_017780.4(CHD7):c.2224G>A (p.Asp742Asn)
|
|
|
NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu)
|
|
|
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550
|
|
NM_017780.4(CHD7):c.2662A>G (p.Met888Val)
|
|
|
NM_017780.4(CHD7):c.2670T>C (p.Phe890=)
|
|
|
NM_017780.4(CHD7):c.2835+18G>C
|
rs143580627
|
|
NM_017780.4(CHD7):c.2916G>A (p.Gln972=)
|
|
|
NM_017780.4(CHD7):c.295G>A (p.Ala99Thr)
|
rs779024959
|
|
NM_017780.4(CHD7):c.328G>A (p.Val110Ile)
|
|
|
NM_017780.4(CHD7):c.3423G>A (p.Val1141=)
|
|
|
NM_017780.4(CHD7):c.3600C>T (p.Pro1200=)
|
|
|
NM_017780.4(CHD7):c.3651T>C (p.Tyr1217=)
|
|
|
NM_017780.4(CHD7):c.3695G>A (p.Gly1232Asp)
|
|
|
NM_017780.4(CHD7):c.4101G>A (p.Arg1367=)
|
|
|
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
|
|
|
NM_017780.4(CHD7):c.4324A>G (p.Met1442Val)
|
|
|
NM_017780.4(CHD7):c.4515A>G (p.Lys1505=)
|
|
|
NM_017780.4(CHD7):c.4895G>A (p.Arg1632His)
|
|
|
NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala)
|
rs746011394
|
|
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile)
|
rs1236442873
|
|
NM_017780.4(CHD7):c.5114C>T (p.Pro1705Leu)
|
|
|
NM_017780.4(CHD7):c.5123A>G (p.Gln1708Arg)
|
|
|
NM_017780.4(CHD7):c.5181C>T (p.Tyr1727=)
|
|
|
NM_017780.4(CHD7):c.5269G>A (p.Ala1757Thr)
|
|
|
NM_017780.4(CHD7):c.5272G>A (p.Asp1758Asn)
|
|
|
NM_017780.4(CHD7):c.5291C>T (p.Ala1764Val)
|
|
|
NM_017780.4(CHD7):c.530C>G (p.Pro177Arg)
|
|
|
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala)
|
rs766416900
|
|
NM_017780.4(CHD7):c.546C>T (p.His182=)
|
|
|
NM_017780.4(CHD7):c.555C>A (p.His185Gln)
|
|
|
NM_017780.4(CHD7):c.5568A>G (p.Glu1856=)
|
|
|
NM_017780.4(CHD7):c.5637G>A (p.Lys1879=)
|
|
|
NM_017780.4(CHD7):c.5666-13dup
|
|
|
NM_017780.4(CHD7):c.5825G>A (p.Arg1942Gln)
|
|
|
NM_017780.4(CHD7):c.5827C>T (p.Arg1943Trp)
|
|
|
NM_017780.4(CHD7):c.5856A>T (p.Glu1952Asp)
|
|
|
NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln)
|
|
|
NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)
|
|
|
NM_017780.4(CHD7):c.6135G>T (p.Pro2045=)
|
rs6999971
|
|
NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln)
|
|
|
NM_017780.4(CHD7):c.6261G>A (p.Leu2087=)
|
|
|
NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)
|
|
|
NM_017780.4(CHD7):c.6392T>G (p.Phe2131Cys)
|
|
|
NM_017780.4(CHD7):c.6439G>A (p.Ala2147Thr)
|
|
|
NM_017780.4(CHD7):c.6446G>A (p.Gly2149Glu)
|
|
|
NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys)
|
|
|
NM_017780.4(CHD7):c.6521A>G (p.Lys2174Arg)
|
|
|
NM_017780.4(CHD7):c.6570A>G (p.Lys2190=)
|
|
|
NM_017780.4(CHD7):c.6653T>C (p.Leu2218Pro)
|
|
|
NM_017780.4(CHD7):c.6672C>T (p.Gly2224=)
|
|
|
NM_017780.4(CHD7):c.6681T>G (p.Thr2227=)
|
|
|
NM_017780.4(CHD7):c.6692C>G (p.Ser2231Cys)
|
rs554415600
|
|
NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu)
|
|
|
NM_017780.4(CHD7):c.6744C>T (p.Asp2248=)
|
|
|
NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu)
|
|
|
NM_017780.4(CHD7):c.685A>C (p.Thr229Pro)
|
rs767816305
|
|
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.6924G>A (p.Ser2308=)
|
rs61733338
|
|
NM_017780.4(CHD7):c.7083G>T (p.Arg2361Ser)
|
|
|
NM_017780.4(CHD7):c.7090G>T (p.Ala2364Ser)
|
|
|
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro)
|
rs541818422
|
|
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.7193G>A (p.Arg2398His)
|
|
|
NM_017780.4(CHD7):c.7250G>T (p.Arg2417Met)
|
|
|
NM_017780.4(CHD7):c.7313A>G (p.Gln2438Arg)
|
|
|
NM_017780.4(CHD7):c.7357A>G (p.Ser2453Gly)
|
|
|
NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala)
|
|
|
NM_017780.4(CHD7):c.7444A>G (p.Met2482Val)
|
|
|
NM_017780.4(CHD7):c.7446G>A (p.Met2482Ile)
|
|
|
NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys)
|
|
|
NM_017780.4(CHD7):c.747G>A (p.Leu249=)
|
|
|
NM_017780.4(CHD7):c.749G>A (p.Arg250His)
|
|
|
NM_017780.4(CHD7):c.7592G>A (p.Arg2531Gln)
|
|
|
NM_017780.4(CHD7):c.770A>G (p.His257Arg)
|
|
|
NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)
|
|
|
NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)
|
|
|
NM_017780.4(CHD7):c.7849T>C (p.Phe2617Leu)
|
|
|
NM_017780.4(CHD7):c.7959A>C (p.Arg2653=)
|
|
|
NM_017780.4(CHD7):c.7993C>G (p.Pro2665Ala)
|
|
|
NM_017780.4(CHD7):c.8004T>G (p.Asp2668Glu)
|
|
|
NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu)
|
|
|
NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)
|
|
|
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
|
|
|
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.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.8320G>A (p.Gly2774Ser)
|
|
|
NM_017780.4(CHD7):c.8359G>A (p.Gly2787Ser)
|
|
|
NM_017780.4(CHD7):c.8362G>A (p.Asp2788Asn)
|
|
|
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe)
|
rs755563758
|
|
NM_017780.4(CHD7):c.8474G>T (p.Gly2825Val)
|
|
|
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser)
|
rs370129047
|
|
NM_017780.4(CHD7):c.8554G>A (p.Asp2852Asn)
|
|
|
NM_017780.4(CHD7):c.8571T>C (p.Ser2857=)
|
|
|
NM_017780.4(CHD7):c.8609C>T (p.Ala2870Val)
|
|
|
NM_017780.4(CHD7):c.8700G>A (p.Pro2900=)
|
|
|
NM_017780.4(CHD7):c.8842A>G (p.Lys2948Glu)
|
rs1467824778
|
|
NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys)
|
|
|
NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu)
|
|
|
NM_025000.4(DCAF17):c.102C>T (p.Gly34=)
|
|
|
NM_025000.4(DCAF17):c.126+21del
|
|
|
NM_025000.4(DCAF17):c.127-3dup
|
|
|
NM_025000.4(DCAF17):c.230+10del
|
|
|
NM_025000.4(DCAF17):c.322-14del
|
rs201494527
|
|
NM_025000.4(DCAF17):c.322-15dup
|
rs139655160
|
|
NM_025000.4(DCAF17):c.322-3del
|
|
|
NM_025000.4(DCAF17):c.322-3dup
|
rs372539451
|
|
NM_025000.4(DCAF17):c.322-4_322-3del
|
|
|
NM_025000.4(DCAF17):c.322-5_322-3dup
|
|
|
NM_025000.4(DCAF17):c.628-6del
|
|
|
NM_025000.4(DCAF17):c.838+25dup
|
|
|