ClinVar Miner

List of variants reported as benign for syndromic intellectual disability by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2658
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HGVS dbSNP gnomAD frequency
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
NM_016032.4(ZDHHC9):c.487+15A>G rs2275605 0.92100
NM_013275.6(ANKRD11):c.2772C>T (p.Thr924=) rs2279349 0.82790
NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val) rs2279348 0.66687
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln) rs3088074 0.50884
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_006950.3(SYN1):c.775-8085A>G rs4898 0.46249
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_024665.7(TBL1XR1):c.766+5A>G rs3749234 0.21092
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001127178.3(PIGG):c.1989C>T (p.Ala663=) rs13150531 0.19173
NM_001127178.3(PIGG):c.1828T>C (p.Cys610Arg) rs7666425 0.19169
NM_001127178.3(PIGG):c.1743T>C (p.Leu581=) rs7666226 0.19160
NM_001127178.3(PIGG):c.2795T>C (p.Phe932Ser) rs1127410 0.19048
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_001127178.3(PIGG):c.2642T>C (p.Ile881Thr) rs34623004 0.18986
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile) rs13114026 0.15552
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001079872.2(CUL4B):c.1174-20G>A rs5957408 0.14035
NM_001127178.3(PIGG):c.1373G>A (p.Arg458His) rs13115344 0.13254
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu) rs4785560 0.09807
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
NM_024665.7(TBL1XR1):c.926-8C>T rs77478951 0.07381
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro) rs60520302 0.04744
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_001110556.2(FLNA):c.374-19G>A rs2070817 0.04163
NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=) rs61741725 0.04130
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04125
NM_001429.4(EP300):c.95-16T>C rs5758235 0.04095
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001429.4(EP300):c.1168+18G>A rs3818120 0.04073
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
NM_024665.7(TBL1XR1):c.59-13C>G rs78281312 0.03907
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_001127178.3(PIGG):c.2191G>A (p.Val731Ile) rs34916638 0.03501
NM_013275.6(ANKRD11):c.4932G>A (p.Gly1644=) rs72821356 0.03413
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210 0.03010
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_001127178.3(PIGG):c.990T>C (p.Ser330=) rs11726338 0.02569
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=) rs61744778 0.02524
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His) rs117997391 0.02470
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=) rs61729371 0.02062
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02054
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152 0.01700
NM_001376.5(DYNC1H1):c.3960+16G>A rs11850726 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01619
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=) rs189297725 0.01580
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=) rs142539117 0.01490
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_013275.6(ANKRD11):c.2039C>G (p.Thr680Ser) rs145694621 0.01463
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605 0.01433
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788 0.01349
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_001110556.2(FLNA):c.4598+8G>C rs112379782 0.01252
NM_018026.4(PACS1):c.1199+16T>C rs61890329 0.01236
NM_006950.3(SYN1):c.838-8T>G rs12394306 0.01234
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=) rs34016116 0.01190
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_024665.7(TBL1XR1):c.1416+14A>G rs144060569 0.01159
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_001079872.2(CUL4B):c.1324+15G>A rs143921252 0.01002
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp) rs28454778 0.00937
NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg) rs74033733 0.00879
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001110556.2(FLNA):c.1829-13T>C rs192905521 0.00789
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_001127178.3(PIGG):c.2069+16C>T rs144533568 0.00716
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574 0.00680
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001376.5(DYNC1H1):c.13516-16C>T rs28669726 0.00656
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263 0.00624
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=) rs114337467 0.00622
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656 0.00549
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758 0.00502
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596 0.00499
NM_001127178.3(PIGG):c.1520C>T (p.Ala507Val) rs144879126 0.00498
NM_001127178.3(PIGG):c.1930G>A (p.Glu644Lys) rs114931121 0.00498
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=) rs79499872 0.00490
NM_013275.6(ANKRD11):c.-137A>G rs75012888 0.00482
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579 0.00457
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_018026.4(PACS1):c.858A>C (p.Ser286=) rs114730283 0.00432
NM_001127178.3(PIGG):c.759+16G>A rs148792489 0.00426
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060 0.00424
NM_000489.6(ATRX):c.485-17C>G rs193223073 0.00422
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_018026.4(PACS1):c.1969A>C (p.Met657Leu) rs115947278 0.00414
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001079872.2(CUL4B):c.777-12C>T rs192860595 0.00395
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=) rs143580749 0.00390
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_018026.4(PACS1):c.534+13T>C rs138009664 0.00375
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_152564.5(VPS13B):c.7050+11A>G rs114546856 0.00372
NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=) rs150642594 0.00365
NM_001015877.2(PHF6):c.730-11T>G rs192977933 0.00364
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_001079872.2(CUL4B):c.2161-15T>G rs183114462 0.00355
NM_013275.6(ANKRD11):c.893-19C>T rs117052164 0.00353
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_013275.6(ANKRD11):c.601+7A>G rs202074713 0.00337
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497 0.00332
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_001127178.3(PIGG):c.771G>A (p.Thr257=) rs35496504 0.00322
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_014795.4(ZEB2):c.403+18C>T rs116404871 0.00305
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090 0.00297
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001429.4(EP300):c.1623-20T>C rs151092312 0.00288
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=) rs146025366 0.00285
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_018026.4(PACS1):c.2376C>T (p.Ala792=) rs145601427 0.00270
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_016032.4(ZDHHC9):c.167+10G>A rs140526450 0.00244
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
NM_001127178.3(PIGG):c.1114+8A>G rs182522437 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001127178.3(PIGG):c.1254G>A (p.Thr418=) rs139518242 0.00227
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976 0.00216
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=) rs61743619 0.00210
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_001079872.2(CUL4B):c.1257-19T>C rs201629851 0.00205
NM_016032.4(ZDHHC9):c.777+16C>T rs193236859 0.00196
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_006950.3(SYN1):c.528-19C>T rs190935498 0.00192
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421 0.00190
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775 0.00186
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) rs149526010 0.00186
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=) rs147726863 0.00185
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839 0.00183
NM_001127178.3(PIGG):c.1581C>T (p.Thr527=) rs143989093 0.00179
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624 0.00177
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_001127178.3(PIGG):c.1114+15C>T rs200262444 0.00170
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=) rs141436870 0.00166
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853 0.00165
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001127178.3(PIGG):c.902-16G>A rs187291662 0.00157
NM_006950.3(SYN1):c.980+14C>T rs376734047 0.00157
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val) rs372632879 0.00155
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His) rs201043388 0.00154
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886 0.00152
NM_013275.6(ANKRD11):c.6827C>T (p.Pro2276Leu) rs573355746 0.00152
NM_024665.7(TBL1XR1):c.1123-14T>G rs117037344 0.00152
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761 0.00150
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val) rs61744864 0.00143
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00142
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=) rs150015583 0.00142
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val) rs148243995 0.00140
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser) rs374668457 0.00140
NM_018026.4(PACS1):c.535-4G>A rs112192900 0.00140
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001127178.3(PIGG):c.2150C>A (p.Ser717Tyr) rs117059276 0.00137
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=) rs144309427 0.00137
NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=) rs143287644 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001347721.2(DYRK1A):c.925-19A>G rs78428152 0.00136
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141 0.00124
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468 0.00123
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00113
NM_001127178.3(PIGG):c.2085C>T (p.Ala695=) rs150774662 0.00112
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798 0.00111
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=) rs17512877 0.00110
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967 0.00110
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045 0.00109
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_005120.3(MED12):c.2981+13G>A rs73214870 0.00105
NM_004586.3(RPS6KA3):c.631+18G>A rs182515508 0.00104
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_001376.5(DYNC1H1):c.3157-11T>C rs367593677 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_016032.4(ZDHHC9):c.626-10A>T rs188156112 0.00103
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310 0.00101
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=) rs150848826 0.00100
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_013275.6(ANKRD11):c.4440T>C (p.His1480=) rs139429949 0.00099
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_152564.5(VPS13B):c.11495+19G>A rs370575091 0.00097
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001376.5(DYNC1H1):c.8637+12G>A rs17512551 0.00096
NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg) rs145415643 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322 0.00093
NM_001429.4(EP300):c.6675G>A (p.Gln2225=) rs147880144 0.00092
NM_013275.6(ANKRD11):c.172C>A (p.Arg58=) rs144364610 0.00092
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_001110556.2(FLNA):c.1066-19C>T rs369196285 0.00089
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=) rs143258359 0.00083
NM_001429.4(EP300):c.2998-14dup rs560058125 0.00083
NM_001429.4(EP300):c.3143-9T>C rs199773872 0.00083
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_018026.4(PACS1):c.2581C>T (p.Leu861=) rs201326960 0.00083
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_001110556.2(FLNA):c.720+12C>T rs367894653 0.00076
NM_001347721.2(DYRK1A):c.1071+15G>A rs374505179 0.00076
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=) rs144721281 0.00076
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=) rs111459275 0.00075
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957 0.00073
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00073
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile) rs147744268 0.00071
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_004380.3(CREBBP):c.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_001376.5(DYNC1H1):c.12684+19A>G rs377124918 0.00068
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00068
NM_013275.6(ANKRD11):c.1842C>T (p.Ser614=) rs764479350 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_001110556.2(FLNA):c.4142+5_4142+14dup rs782735723 0.00067
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=) rs141424911 0.00067
NM_018026.4(PACS1):c.1731+18G>A rs560600114 0.00066
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_001347721.2(DYRK1A):c.1213-7C>T rs199867876 0.00065
NM_024665.7(TBL1XR1):c.1251-8T>A rs148654942 0.00065
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=) rs149626938 0.00064
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_001110556.2(FLNA):c.651C>T (p.Asp217=) rs34644500 0.00062
NM_001429.4(EP300):c.94+13A>G rs201124490 0.00062
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_013275.6(ANKRD11):c.6791C>T (p.Pro2264Leu) rs565435346 0.00061
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001376.5(DYNC1H1):c.12903-14C>T rs139935428 0.00060
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_013275.6(ANKRD11):c.227-10C>T rs201226457 0.00058
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_013275.6(ANKRD11):c.7311C>T (p.Pro2437=) rs377547565 0.00056
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562 0.00054
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=) rs190789698 0.00053
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293 0.00052
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00052
NM_001110556.2(FLNA):c.6907+14G>T rs199934017 0.00051
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_013275.6(ANKRD11):c.3009C>T (p.His1003=) rs140023344 0.00051
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833 0.00050
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu) rs202034147 0.00050
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00050
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536 0.00049
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_013275.6(ANKRD11):c.6201C>T (p.Ser2067=) rs753589168 0.00047
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001376.5(DYNC1H1):c.11595+12T>C rs200110362 0.00046
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522 0.00046
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103 0.00046
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=) rs150497848 0.00046
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_013275.6(ANKRD11):c.-158G>T rs1048978329 0.00045
NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=) rs376468392 0.00045
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=) rs181697853 0.00044
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 0.00043
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885 0.00042
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr) rs139239852 0.00041
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999 0.00040
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044 0.00039
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_005120.3(MED12):c.5400+7G>A rs201254124 0.00038
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_024665.7(TBL1XR1):c.1251-13C>G rs764679582 0.00038
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_013275.6(ANKRD11):c.1258G>A (p.Val420Met) rs147180412 0.00037
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) rs782651736 0.00036
NM_005120.3(MED12):c.397-12A>T rs192515277 0.00036
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=) rs139070737 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=) rs77513704 0.00035
NM_018026.4(PACS1):c.631T>C (p.Leu211=) rs151082834 0.00035
NM_013275.6(ANKRD11):c.5766C>T (p.Ala1922=) rs373393326 0.00034
NM_018026.4(PACS1):c.1838+9T>C rs145783184 0.00034
NM_024665.7(TBL1XR1):c.865-19C>T rs375720678 0.00034
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267 0.00032
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729 0.00032
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=) rs144649776 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_001110556.2(FLNA):c.1328G>A (p.Arg443His) rs782282149 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_000489.6(ATRX):c.4957-20T>C rs373789026 0.00029
NM_001110556.2(FLNA):c.2023-8C>T rs587780335 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268 0.00029
NM_001172509.2(SATB2):c.1386+18C>T rs199984701 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=) rs139369265 0.00029
NM_018026.4(PACS1):c.2294-7_2294-6del rs534796219 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180 0.00027
NM_018026.4(PACS1):c.1881T>C (p.Ala627=) rs550567165 0.00027
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys) rs139646537 0.00027
NM_001110556.2(FLNA):c.2656+18A>G rs375154492 0.00026
NM_001376.5(DYNC1H1):c.9774A>G (p.Gln3258=) rs528520653 0.00026
NM_005120.3(MED12):c.4528-19T>C rs370859385 0.00026
NM_013275.6(ANKRD11):c.546G>T (p.Arg182=) rs772287589 0.00026
NM_018026.4(PACS1):c.1839-19C>T rs201219981 0.00026
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001172509.2(SATB2):c.151G>A (p.Val51Met) rs540871216 0.00025
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560 0.00025
NM_001376.5(DYNC1H1):c.13515+18G>A rs200633553 0.00025
NM_005120.3(MED12):c.736-14C>G rs373707149 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_013275.6(ANKRD11):c.5553C>T (p.Tyr1851=) rs372041087 0.00024
NM_018026.4(PACS1):c.1617C>T (p.His539=) rs113972076 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001127178.3(PIGG):c.2279G>A (p.Arg760His) rs200170221 0.00022
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile) rs149152296 0.00022
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457 0.00022
NM_016032.4(ZDHHC9):c.978+15C>T rs367975001 0.00022
NM_031206.7(LAS1L):c.1893A>C (p.Gly631=) rs200815004 0.00022
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001429.4(EP300):c.6043A>G (p.Met2015Val) rs1351718424 0.00021
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp) rs145808703 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_006950.3(SYN1):c.1055+12G>A rs373071109 0.00021
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=) rs142850229 0.00021
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001127178.3(PIGG):c.588G>A (p.Thr196=) rs149455987 0.00020
NM_001353921.2(ARHGEF9):c.946-4C>A rs56398019 0.00020
NM_001429.4(EP300):c.1608C>A (p.Ala536=) rs370568560 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_013275.6(ANKRD11):c.275G>A (p.Arg92Gln) rs143894223 0.00020
NM_013275.6(ANKRD11):c.5073G>A (p.Ala1691=) rs192176841 0.00020
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=) rs201735478 0.00020
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601 0.00019
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=) rs150824088 0.00019
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=) rs34287672 0.00019
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_006950.3(SYN1):c.999G>T (p.Gly333=) rs752926074 0.00019
NM_013275.6(ANKRD11):c.280G>C (p.Ala94Pro) rs190143218 0.00019
NM_013275.6(ANKRD11):c.838G>T (p.Val280Leu) rs199778705 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077 0.00018
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372 0.00018
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala) rs782804253 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001110556.2(FLNA):c.6847A>C (p.Ile2283Leu) rs373037983 0.00018
NM_001110556.2(FLNA):c.958G>A (p.Val320Met) rs781889196 0.00018
NM_001172509.2(SATB2):c.1386+19G>A rs374300066 0.00018
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) rs141815718 0.00018
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.2242-8T>C rs199931034 0.00018
NM_013275.6(ANKRD11):c.4272T>C (p.Ser1424=) rs373066750 0.00018
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=) rs192742245 0.00017
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=) rs766164918 0.00017
NM_013275.6(ANKRD11):c.3423C>T (p.Ser1141=) rs142005632 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866 0.00016
NM_001110556.2(FLNA):c.5534G>A (p.Arg1845His) rs782193125 0.00016
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg) rs140300789 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_013275.6(ANKRD11):c.3780G>A (p.Ser1260=) rs139288405 0.00016
NM_013275.6(ANKRD11):c.5625C>T (p.Val1875=) rs201082380 0.00016
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) rs375418085 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001429.4(EP300):c.5565A>G (p.Pro1855=) rs150532830 0.00015
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=) rs117115765 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00015
NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu) rs570265865 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) rs200857989 0.00014
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn) rs190415098 0.00014
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) rs782555930 0.00014
NM_001172509.2(SATB2):c.405C>T (p.Pro135=) rs150990155 0.00014
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His) rs756785454 0.00014
NM_001429.4(EP300):c.2916T>C (p.Pro972=) rs142769483 0.00014
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro) rs748747684 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00014
NM_006950.3(SYN1):c.980+20C>A rs777705880 0.00014
NM_013275.6(ANKRD11):c.4391A>G (p.Lys1464Arg) rs147285830 0.00014
NM_013275.6(ANKRD11):c.6375C>T (p.Ala2125=) rs75629150 0.00014
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=) rs572507342 0.00014
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val) rs199951665 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856 0.00013
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500 0.00013
NM_001376.5(DYNC1H1):c.8584G>A (p.Asp2862Asn) rs139461837 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu) rs149016283 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895 0.00013
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_013275.6(ANKRD11):c.5038C>T (p.Leu1680=) rs142473716 0.00013
NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=) rs561869177 0.00013
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) rs181034787 0.00013
NM_000489.6(ATRX):c.4317+13T>C rs201710363 0.00012
NM_000489.6(ATRX):c.662+11T>C rs375372323 0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile) rs373286506 0.00012
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709 0.00012
NM_001127178.3(PIGG):c.1594G>C (p.Gly532Arg) rs781714196 0.00012
NM_001127178.3(PIGG):c.2769C>T (p.Tyr923=) rs148579497 0.00012
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr) rs142825652 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu) rs374369335 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_018026.4(PACS1):c.698G>A (p.Gly233Asp) rs201067492 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_000489.6(ATRX):c.1032C>T (p.Ser344=) rs143491422 0.00011
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507 0.00011
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299 0.00011
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818 0.00011
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp) rs147191297 0.00011
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser) rs370090236 0.00011
NM_001353921.2(ARHGEF9):c.946-16C>T rs781867369 0.00011
NM_001376.5(DYNC1H1):c.13667G>A (p.Cys4556Tyr) rs142519155 0.00011
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359 0.00011
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.3502-13G>A rs547213630 0.00011
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644 0.00011
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001429.4(EP300):c.5461C>A (p.Arg1821=) rs780579609 0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met) rs150810048 0.00011
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=) rs145201706 0.00011
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 0.00010
NM_000489.6(ATRX):c.4214+6A>G rs782562759 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110556.2(FLNA):c.6227-7C>T rs370491691 0.00010
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) rs781881872 0.00010
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907 0.00010
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450 0.00010
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328 0.00010
NM_001429.4(EP300):c.2925A>G (p.Glu975=) rs75752076 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_005120.3(MED12):c.321A>C (p.Ala107=) rs748627661 0.00010
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) rs138952430 0.00010
NM_013275.6(ANKRD11):c.1725C>T (p.Ser575=) rs151124308 0.00010
NM_013275.6(ANKRD11):c.69G>A (p.Glu23=) rs533051571 0.00010
NM_014795.4(ZEB2):c.1587G>A (p.Thr529=) rs148709333 0.00010
NM_016032.4(ZDHHC9):c.984C>G (p.Pro328=) rs146317883 0.00010
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_000489.6(ATRX):c.189+7A>G rs781842591 0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.798C>T (p.Tyr266=) rs376341197 0.00009
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134 0.00009
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=) rs376972653 0.00009
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801 0.00009
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156 0.00009
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587 0.00009
NM_001110556.2(FLNA):c.7023+10C>T rs782777494 0.00009
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700 0.00009
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807 0.00009
NM_001110556.2(FLNA):c.7756+20G>A rs782395246 0.00009
NM_001376.5(DYNC1H1):c.11460+18_11460+57del rs768638049 0.00009
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550 0.00009
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194 0.00009
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217 0.00009
NM_001429.4(EP300):c.1443G>A (p.Pro481=) rs374768898 0.00009
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629 0.00009
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=) rs377023934 0.00009
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=) rs772392148 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_005120.3(MED12):c.2721G>A (p.Leu907=) rs757010467 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_013275.6(ANKRD11):c.7324C>T (p.Leu2442=) rs373934412 0.00009
NM_016032.4(ZDHHC9):c.144A>T (p.Thr48=) rs145877196 0.00009
NM_016032.4(ZDHHC9):c.674+9C>T rs376385410 0.00009
NM_018026.4(PACS1):c.2413G>A (p.Ala805Thr) rs184092629 0.00009
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=) rs201359736 0.00009
NM_080632.3(UPF3B):c.1302+8T>C rs776786838 0.00009
NM_080632.3(UPF3B):c.470-19T>C rs779967826 0.00009
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala) rs142601264 0.00008
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=) rs782633224 0.00008
NM_001015877.2(PHF6):c.714C>T (p.Ala238=) rs761180935 0.00008
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007 0.00008
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) rs185503240 0.00008
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936 0.00008
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007 0.00008
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu) rs377576796 0.00008
NM_001172509.2(SATB2):c.306G>A (p.Leu102=) rs201405384 0.00008
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) rs371605184 0.00008
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110 0.00008
NM_001376.5(DYNC1H1):c.12102+20C>T rs200362531 0.00008
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro) rs200499648 0.00008
NM_001429.4(EP300):c.45G>A (p.Arg15=) rs752119517 0.00008
NM_001429.4(EP300):c.5346C>T (p.Cys1782=) rs747513510 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367 0.00008
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro) rs747413033 0.00008
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=) rs544199816 0.00008
NM_013275.6(ANKRD11):c.2610C>T (p.Ser870=) rs142560514 0.00008
NM_014795.4(ZEB2):c.73+6A>C rs756924190 0.00008
NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys) rs185917523 0.00008
NM_016032.4(ZDHHC9):c.168-18A>G rs753763200 0.00008
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser) rs775715153 0.00008
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn) rs151273832 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00007
NM_001110556.2(FLNA):c.2522G>A (p.Arg841Gln) rs201451383 0.00007
NM_001110556.2(FLNA):c.2657-19G>A rs782352062 0.00007
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) rs781844419 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=) rs1324902589 0.00007
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) rs782649462 0.00007
NM_001110556.2(FLNA):c.5190C>T (p.His1730=) rs781793192 0.00007
NM_001110556.2(FLNA):c.6227-10C>T rs782748718 0.00007
NM_001110556.2(FLNA):c.6651G>A (p.Lys2217=) rs782053982 0.00007
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00007
NM_001172509.2(SATB2):c.1776G>A (p.Glu592=) rs375553887 0.00007
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser) rs147973077 0.00007
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=) rs782313473 0.00007
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=) rs202008601 0.00007
NM_001429.4(EP300):c.6414G>A (p.Ala2138=) rs374679651 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.3111G>A (p.Thr1037=) rs185658730 0.00007
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 0.00007
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028 0.00007
NM_006950.3(SYN1):c.981-19C>T rs375349005 0.00007
NM_013275.6(ANKRD11):c.4382A>G (p.Lys1461Arg) rs769926682 0.00007
NM_014795.4(ZEB2):c.297C>T (p.Asn99=) rs147603619 0.00007
NM_014795.4(ZEB2):c.3285G>A (p.Ala1095=) rs201630448 0.00007
NM_018026.4(PACS1):c.1993+18C>T rs543655686 0.00007
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.12G>A (p.Glu4=) rs782765957 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn) rs782253706 0.00006
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074 0.00006
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn) rs782512381 0.00006
NM_000489.6(ATRX):c.370+8G>A rs782746673 0.00006
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=) rs782638271 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.485-18G>A rs782461396 0.00006
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=) rs202114901 0.00006
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408 0.00006
NM_001110556.2(FLNA):c.13C>T (p.His5Tyr) rs781866647 0.00006
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800 0.00006
NM_001110556.2(FLNA):c.2451C>T (p.Pro817=) rs782192587 0.00006
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) rs372718245 0.00006
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518 0.00006
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln) rs781882457 0.00006
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300 0.00006
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) rs781860863 0.00006
NM_001110556.2(FLNA):c.6303G>A (p.Thr2101=) rs372978023 0.00006
NM_001110556.2(FLNA):c.66C>T (p.Asp22=) rs782358007 0.00006
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814 0.00006
NM_001110556.2(FLNA):c.768T>C (p.Ser256=) rs782357419 0.00006
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471 0.00006
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00006
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly) rs143498500 0.00006
NM_001347721.2(DYRK1A):c.925-8T>C rs199804785 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377 0.00006
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179 0.00006
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu) rs749702423 0.00006
NM_001429.4(EP300):c.3750C>T (p.Cys1250=) rs747187417 0.00006
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204 0.00006
NM_001429.4(EP300):c.7114A>G (p.Met2372Val) rs768061933 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=) rs539366777 0.00006
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622 0.00006
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_013275.6(ANKRD11):c.-18C>T rs373447058 0.00006
NM_013275.6(ANKRD11):c.192G>A (p.Ala64=) rs200665093 0.00006
NM_013275.6(ANKRD11):c.477T>C (p.Asp159=) rs201813034 0.00006
NM_013275.6(ANKRD11):c.5586C>T (p.Val1862=) rs772818159 0.00006
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=) rs201567433 0.00006
NM_018026.4(PACS1):c.1233C>T (p.Ser411=) rs201671985 0.00006
NM_018026.4(PACS1):c.2514C>T (p.Gly838=) rs199684328 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala) rs781836912 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=) rs782097254 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 0.00005
NM_000489.6(ATRX):c.6018T>A (p.Val2006=) rs781802180 0.00005
NM_000489.6(ATRX):c.6110+15A>G rs1309299805 0.00005
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met) rs192057045 0.00005
NM_001110556.2(FLNA):c.1806C>T (p.Ile602=) rs782543203 0.00005
NM_001110556.2(FLNA):c.1807G>A (p.Gly603Arg) rs200116438 0.00005
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139 0.00005
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695 0.00005
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531 0.00005
NM_001110556.2(FLNA):c.4893G>A (p.Pro1631=) rs1984380 0.00005
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643 0.00005
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205 0.00005
NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met) rs782084497 0.00005
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn) rs371689052 0.00005
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) rs371830740 0.00005
NM_001172509.2(SATB2):c.1173+4C>A rs376920785 0.00005
NM_001172509.2(SATB2):c.1828A>G (p.Ser610Gly) rs1048433974 0.00005
NM_001172509.2(SATB2):c.1843C>T (p.Pro615Ser) rs1394335364 0.00005
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363 0.00005
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728 0.00005
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) rs781870482 0.00005
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=) rs781930227 0.00005
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) rs369716500 0.00005
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.13212T>C (p.Asn4404=) rs373496930 0.00005
NM_001376.5(DYNC1H1):c.13407G>A (p.Val4469=) rs1445271324 0.00005
NM_001376.5(DYNC1H1):c.6029C>T (p.Pro2010Leu) rs747348966 0.00005
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004380.3(CREBBP):c.414C>T (p.Ala138=) rs542552676 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=) rs142680221 0.00005
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val) rs148050184 0.00005
NM_005120.3(MED12):c.2685+17G>T rs767584131 0.00005
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680 0.00005
NM_005120.3(MED12):c.5109C>T (p.Gly1703=) rs781134410 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.6003G>A (p.Gln2001=) rs1226474526 0.00005
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 0.00005
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603 0.00005
NM_005120.3(MED12):c.906A>G (p.Thr302=) rs1458066906 0.00005
NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg) rs1003478010 0.00005
NM_013275.6(ANKRD11):c.824A>G (p.Asn275Ser) rs138723232 0.00005
NM_013275.6(ANKRD11):c.868A>G (p.Thr290Ala) rs776494318 0.00005
NM_014795.4(ZEB2):c.375G>A (p.Thr125=) rs138389836 0.00005
NM_018026.4(PACS1):c.1626+20A>G rs200284391 0.00005
NM_018026.4(PACS1):c.2250+12C>T rs760895616 0.00005
NM_018026.4(PACS1):c.563A>G (p.Asn188Ser) rs200950761 0.00005
NM_031206.7(LAS1L):c.1269C>T (p.Thr423=) rs188766357 0.00005
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met) rs199780997 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1448A>C (p.Gln483Pro) rs781820428 0.00004
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys) rs782446684 0.00004
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly) rs781804632 0.00004
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr) rs782171296 0.00004
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly) rs368980616 0.00004
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00004
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg) rs782593341 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn) rs373581602 0.00004
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu) rs1557138704 0.00004
NM_000489.6(ATRX):c.2922C>T (p.Ser974=) rs1476227727 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=) rs782472957 0.00004
NM_000489.6(ATRX):c.3737-6C>T rs373071937 0.00004
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu) rs782302000 0.00004
NM_000489.6(ATRX):c.4214+17T>C rs782525895 0.00004
NM_000489.6(ATRX):c.4557+15T>C rs782672265 0.00004
NM_000489.6(ATRX):c.5272+16T>C rs377679337 0.00004
NM_000489.6(ATRX):c.5448+20T>G rs782183661 0.00004
NM_000489.6(ATRX):c.5567-18C>T rs782747817 0.00004
NM_000489.6(ATRX):c.5956+16G>A rs782016890 0.00004
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=) rs782527659 0.00004
NM_001110556.2(FLNA):c.1092C>T (p.His364=) rs782530005 0.00004
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341 0.00004
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735 0.00004
NM_001110556.2(FLNA):c.1749C>T (p.Gly583=) rs782155641 0.00004
NM_001110556.2(FLNA):c.1854G>C (p.Gln618His) rs782495413 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001110556.2(FLNA):c.2023-6C>T rs372021340 0.00004
NM_001110556.2(FLNA):c.2479A>G (p.Ile827Val) rs371361696 0.00004
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) rs781988041 0.00004
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435 0.00004
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser) rs1402204338 0.00004
NM_001110556.2(FLNA):c.5218-4G>A rs370196495 0.00004
NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys) rs781962741 0.00004
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys) rs782779958 0.00004
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745 0.00004
NM_001110556.2(FLNA):c.63C>T (p.Val21=) rs782306951 0.00004
NM_001110556.2(FLNA):c.720+9G>A rs781887001 0.00004
NM_001127178.3(PIGG):c.361-8G>T rs575862015 0.00004
NM_001127178.3(PIGG):c.883G>T (p.Ala295Ser) rs201853289 0.00004
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=) rs771044415 0.00004
NM_001172509.2(SATB2):c.169+11G>T rs779817342 0.00004
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala) rs759183785 0.00004
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=) rs782520132 0.00004
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252 0.00004
NM_001376.5(DYNC1H1):c.2612A>G (p.His871Arg) rs368026551 0.00004
NM_001376.5(DYNC1H1):c.5239-12T>C rs377506256 0.00004
NM_001376.5(DYNC1H1):c.5364C>T (p.Thr1788=) rs748651294 0.00004
NM_001376.5(DYNC1H1):c.5594A>G (p.Lys1865Arg) rs146678667 0.00004
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569 0.00004
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.3522A>G (p.Thr1174=) rs756748826 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu) rs143180774 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004586.3(RPS6KA3):c.846-6A>G rs375177835 0.00004
NM_005120.3(MED12):c.1348+18G>A rs776024292 0.00004
NM_005120.3(MED12):c.1975-5C>T rs200891932 0.00004
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00004
NM_005120.3(MED12):c.4863+15C>T rs778076528 0.00004
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369 0.00004
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995 0.00004
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile) rs762612521 0.00004
NM_013275.6(ANKRD11):c.207G>A (p.Glu69=) rs549000119 0.00004
NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=) rs202126162 0.00004
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu) rs1283976400 0.00004
NM_013275.6(ANKRD11):c.651G>A (p.Ala217=) rs768461388 0.00004
NM_013275.6(ANKRD11):c.6781G>A (p.Glu2261Lys) rs770262960 0.00004
NM_013275.6(ANKRD11):c.745-20C>T rs371708631 0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met) rs727504227 0.00004
NM_014795.4(ZEB2):c.395A>G (p.Asn132Ser) rs369622877 0.00004
NM_016032.4(ZDHHC9):c.369G>A (p.Pro123=) rs763192908 0.00004
NM_016032.4(ZDHHC9):c.674+20T>C rs45555436 0.00004
NM_018026.4(PACS1):c.2404A>G (p.Met802Val) rs754776375 0.00004
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=) rs373278066 0.00004
NM_080632.3(UPF3B):c.807+19T>C rs750984351 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile) rs781797239 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.227C>T (p.Ser76Leu) rs782664370 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn) rs782629714 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.3888A>G (p.Pro1296=) rs139540415 0.00003
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly) rs782464685 0.00003
NM_000489.6(ATRX):c.4557+19C>T rs781857296 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000489.6(ATRX):c.5786+20G>A rs782150691 0.00003
NM_000489.6(ATRX):c.595-17C>G rs782473887 0.00003
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=) rs782159753 0.00003
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=) rs782078102 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.1110C>T (p.Phe370=) rs886044869 0.00003
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=) rs782598234 0.00003
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) rs367639317 0.00003
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319 0.00003
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=) rs781977506 0.00003
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195 0.00003
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317 0.00003
NM_001110556.2(FLNA):c.1713C>T (p.Gly571=) rs782122510 0.00003
NM_001110556.2(FLNA):c.1798G>C (p.Glu600Gln) rs781861830 0.00003
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr) rs782158357 0.00003
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919 0.00003
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu) rs782140888 0.00003
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn) rs375495397 0.00003
NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val) rs782099443 0.00003
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) rs782758177 0.00003
NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu) rs782614645 0.00003
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn) rs782561908 0.00003
NM_001110556.2(FLNA):c.3309G>A (p.Thr1103=) rs782374592 0.00003
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala) rs368441729 0.00003
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395 0.00003
NM_001110556.2(FLNA):c.3935G>A (p.Arg1312His) rs377505188 0.00003
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr) rs782610314 0.00003
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289 0.00003
NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=) rs782653215 0.00003
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) rs781972123 0.00003
NM_001110556.2(FLNA):c.4579G>A (p.Asp1527Asn) rs782537273 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.4786A>G (p.Ile1596Val) rs781870374 0.00003
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665 0.00003
NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=) rs782460018 0.00003
NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln) rs782134110 0.00003
NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile) rs781809353 0.00003
NM_001110556.2(FLNA):c.5827G>A (p.Val1943Ile) rs373682131 0.00003
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) rs782787843 0.00003
NM_001110556.2(FLNA):c.5977C>T (p.Arg1993Trp) rs371616686 0.00003
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) rs782160183 0.00003
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=) rs782221205 0.00003
NM_001110556.2(FLNA):c.6380-17G>A rs200764111 0.00003
NM_001110556.2(FLNA):c.6446G>A (p.Arg2149Gln) rs201932105 0.00003
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile) rs367655833 0.00003
NM_001110556.2(FLNA):c.6602G>A (p.Arg2201His) rs368547421 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739 0.00003
NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys) rs781984348 0.00003
NM_001110556.2(FLNA):c.7350C>T (p.Phe2450=) rs782225826 0.00003
NM_001110556.2(FLNA):c.7553-10T>C rs782156724 0.00003
NM_001110556.2(FLNA):c.759C>T (p.Asp253=) rs782701643 0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser) rs201864116 0.00003
NM_001172509.2(SATB2):c.700+6C>T rs755400212 0.00003
NM_001347721.2(DYRK1A):c.1247A>C (p.Asn416Thr) rs777063595 0.00003
NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln) rs761460441 0.00003
NM_001347721.2(DYRK1A):c.638-3C>T rs779620187 0.00003
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn) rs758888181 0.00003
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) rs782187939 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr) rs748133009 0.00003
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821 0.00003
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile) rs561339487 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345 0.00003
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001429.4(EP300):c.2744G>A (p.Arg915His) rs748820220 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=) rs138353979 0.00003
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu) rs766086544 0.00003
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser) rs779479811 0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5958G>A (p.Thr1986=) rs774747147 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser) rs587778214 0.00003
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=) rs773807871 0.00003
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=) rs750203223 0.00003
NM_005120.3(MED12):c.1794G>A (p.Leu598=) rs776762599 0.00003
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2484T>C (p.Asp828=) rs781733323 0.00003
NM_005120.3(MED12):c.2748C>A (p.Gly916=) rs768686458 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser) rs1195178209 0.00003
NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met) rs777070083 0.00003
NM_013275.6(ANKRD11):c.4533C>T (p.Pro1511=) rs769180959 0.00003
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr) rs777123332 0.00003
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile) rs199785661 0.00003
NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro) rs61750440 0.00003
NM_016032.4(ZDHHC9):c.1014G>A (p.Pro338=) rs774643586 0.00003
NM_016032.4(ZDHHC9):c.1032C>T (p.Pro344=) rs755391148 0.00003
NM_016032.4(ZDHHC9):c.167+9C>T rs746318308 0.00003
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_018026.4(PACS1):c.2549A>G (p.Lys850Arg) rs772469681 0.00003
NM_018026.4(PACS1):c.430G>A (p.Ala144Thr) rs201877943 0.00003
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met) rs145338657 0.00003
NM_080632.3(UPF3B):c.105G>A (p.Lys35=) rs143487370 0.00003
NM_080632.3(UPF3B):c.352G>A (p.Val118Ile) rs187600102 0.00003
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) rs201833722 0.00003
NM_080632.3(UPF3B):c.883T>C (p.Leu295=) rs755087452 0.00003
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_000489.6(ATRX):c.114T>G (p.Leu38=) rs201353033 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln) rs782128777 0.00002
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp) rs886044778 0.00002
NM_000489.6(ATRX):c.1666G>A (p.Val556Met) rs782001042 0.00002
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr) rs781967738 0.00002
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala) rs960922907 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu) rs782016225 0.00002
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=) rs782427169 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser) rs201588422 0.00002
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser) rs782293614 0.00002
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser) rs1440336962 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.4699+9C>T rs782140505 0.00002
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=) rs145036475 0.00002
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=) rs782211965 0.00002
NM_000489.6(ATRX):c.5493C>T (p.His1831=) rs782508028 0.00002
NM_000489.6(ATRX):c.6327-18C>T rs372246179 0.00002
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=) rs139457986 0.00002
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=) rs3027525 0.00002
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr) rs147341551 0.00002
NM_000489.6(ATRX):c.7200+15G>A rs372742045 0.00002
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr) rs782388992 0.00002
NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly) rs371936356 0.00002
NM_001110556.2(FLNA):c.1224G>A (p.Thr408=) rs1221446175 0.00002
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644 0.00002
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) rs782698277 0.00002
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294 0.00002
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val) rs1443563081 0.00002
NM_001110556.2(FLNA):c.1767C>T (p.Gly589=) rs371909600 0.00002
NM_001110556.2(FLNA):c.1824G>A (p.Thr608=) rs782114616 0.00002
NM_001110556.2(FLNA):c.1938C>T (p.His646=) rs369037499 0.00002
NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys) rs782043699 0.00002
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys) rs1380007907 0.00002
NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile) rs782116160 0.00002
NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu) rs782278974 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.2661C>T (p.Val887=) rs781794634 0.00002
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys) rs782580568 0.00002
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile) rs781884864 0.00002
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe) rs1557177797 0.00002
NM_001110556.2(FLNA):c.3369C>T (p.Ser1123=) rs782475258 0.00002
NM_001110556.2(FLNA):c.3515G>A (p.Arg1172Gln) rs782694926 0.00002
NM_001110556.2(FLNA):c.3546A>G (p.Gln1182=) rs782119340 0.00002
NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val) rs782538253 0.00002
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584 0.00002
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=) rs782525345 0.00002
NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys) rs782269355 0.00002
NM_001110556.2(FLNA):c.4158C>T (p.Gly1386=) rs781868130 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) rs1400230946 0.00002
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met) rs782352193 0.00002
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127 0.00002
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val) rs12395634 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535 0.00002
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser) rs1557176194 0.00002
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506 0.00002
NM_001110556.2(FLNA):c.6125C>T (p.Ser2042Leu) rs782666380 0.00002
NM_001110556.2(FLNA):c.6503-9A>G rs781919390 0.00002
NM_001110556.2(FLNA):c.652G>A (p.Ala218Thr) rs782580503 0.00002
NM_001110556.2(FLNA):c.6908-14C>G rs782486602 0.00002
NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp) rs1281469151 0.00002
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918 0.00002
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) rs781959191 0.00002
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) rs781905890 0.00002
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) rs782291033 0.00002
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) rs782593788 0.00002
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) rs782302420 0.00002
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) rs782641074 0.00002
NM_001172509.2(SATB2):c.121A>G (p.Met41Val) rs919635073 0.00002
NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val) rs1451743452 0.00002
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser) rs756865617 0.00002
NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg) rs999561200 0.00002
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser) rs1333077167 0.00002
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr) rs773467832 0.00002
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met) rs759524625 0.00002
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser) rs757603372 0.00002
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu) rs771373401 0.00002
NM_001347721.2(DYRK1A):c.1852C>T (p.Arg618Trp) rs758367401 0.00002
NM_001347721.2(DYRK1A):c.241A>G (p.Thr81Ala) rs767489712 0.00002
NM_001347721.2(DYRK1A):c.300+9T>C rs187183665 0.00002
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) rs782666474 0.00002
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001376.5(DYNC1H1):c.3765C>T (p.Thr1255=) rs150953878 0.00002
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn) rs776226690 0.00002
NM_001376.5(DYNC1H1):c.5717-8T>G rs748085549 0.00002
NM_001376.5(DYNC1H1):c.6660G>A (p.Leu2220=) rs567417919 0.00002
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys) rs780160519 0.00002
NM_001429.4(EP300):c.1341A>G (p.Gln447=) rs780940794 0.00002
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val) rs190153828 0.00002
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=) rs778140223 0.00002
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn) rs773615925 0.00002
NM_005120.3(MED12):c.1170C>T (p.Thr390=) rs772236514 0.00002
NM_005120.3(MED12):c.1332C>T (p.Cys444=) rs746205041 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.2202C>T (p.Tyr734=) rs1366328614 0.00002
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005120.3(MED12):c.2686-15C>T rs200842589 0.00002
NM_005120.3(MED12):c.3355-16C>G rs201933970 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.380C>T (p.Thr127Met) rs775072642 0.00002
NM_005120.3(MED12):c.4077T>G (p.Ser1359=) rs902073429 0.00002
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.4253+16G>A rs185066241 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.4380T>C (p.Ser1460=) rs377119772 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.4863+16G>A rs745396813 0.00002
NM_005120.3(MED12):c.5561G>A (p.Arg1854His) rs759125296 0.00002
NM_005120.3(MED12):c.981G>A (p.Thr327=) rs769757456 0.00002
NM_013275.6(ANKRD11):c.4404A>G (p.Lys1468=) rs745469592 0.00002
NM_013275.6(ANKRD11):c.7569+14C>A rs758994547 0.00002
NM_014795.4(ZEB2):c.1336C>T (p.Pro446Ser) rs1435380197 0.00002
NM_014795.4(ZEB2):c.1354A>G (p.Thr452Ala) rs781770369 0.00002
NM_014795.4(ZEB2):c.220G>A (p.Val74Met) rs767169568 0.00002
NM_014795.4(ZEB2):c.2248A>G (p.Ser750Gly) rs730881196 0.00002
NM_014795.4(ZEB2):c.2479C>T (p.Pro827Ser) rs780045123 0.00002
NM_014795.4(ZEB2):c.2993T>C (p.Met998Thr) rs553833674 0.00002
NM_014795.4(ZEB2):c.357T>G (p.Thr119=) rs776250942 0.00002
NM_014795.4(ZEB2):c.55A>T (p.Asn19Tyr) rs967864705 0.00002
NM_014795.4(ZEB2):c.981G>A (p.Ser327=) rs201579452 0.00002
NM_016032.4(ZDHHC9):c.674+11C>T rs370687569 0.00002
NM_018026.4(PACS1):c.1457G>A (p.Ser486Asn) rs770126115 0.00002
NM_018026.4(PACS1):c.1838+3A>G rs775980710 0.00002
NM_018026.4(PACS1):c.684C>T (p.Gly228=) rs548594376 0.00002
NM_031206.7(LAS1L):c.1927+9del rs774312008 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu) rs1557142408 0.00001
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile) rs782751824 0.00001
NM_000489.6(ATRX):c.177C>T (p.Asn59=) rs782250182 0.00001
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn) rs897147546 0.00001
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497 0.00001
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr) rs782057275 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val) rs781916347 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3687G>A (p.Val1229=) rs1051682 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=) rs782303976 0.00001
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=) rs782707742 0.00001
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg) rs782115900 0.00001
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.5273-19A>G rs1278007263 0.00001
NM_000489.6(ATRX):c.5566+14C>T rs1003519094 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=) rs1557079262 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000489.6(ATRX):c.7072-3T>C rs782686541 0.00001
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile) rs782416494 0.00001
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser) rs782367711 0.00001
NM_001079872.2(CUL4B):c.2266+4T>A rs747816205 0.00001
NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn) rs782696220 0.00001
NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile) rs1557179208 0.00001
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907 0.00001
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) rs1557179125 0.00001
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=) rs782650242 0.00001
NM_001110556.2(FLNA):c.1568-19G>A rs782606152 0.00001
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) rs863223619 0.00001
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg) rs781806203 0.00001
NM_001110556.2(FLNA):c.1686G>A (p.Gly562=) rs782730676 0.00001
NM_001110556.2(FLNA):c.1692-10G>A rs199740539 0.00001
NM_001110556.2(FLNA):c.1717G>A (p.Glu573Lys) rs1399359867 0.00001
NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe) rs782780394 0.00001
NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn) rs1557178769 0.00001
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311 0.00001
NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser) rs781988346 0.00001
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) rs782287086 0.00001
NM_001110556.2(FLNA):c.2147G>A (p.Gly716Asp) rs782697176 0.00001
NM_001110556.2(FLNA):c.2206G>A (p.Val736Met) rs1409855324 0.00001
NM_001110556.2(FLNA):c.2221G>A (p.Val741Met) rs782439081 0.00001
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) rs863223620 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2452G>A (p.Ala818Thr) rs782591945 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn) rs782555729 0.00001
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp) rs782772998 0.00001
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr) rs782402900 0.00001
NM_001110556.2(FLNA):c.2762G>A (p.Arg921Gln) rs782334371 0.00001
NM_001110556.2(FLNA):c.2783A>G (p.His928Arg) rs1209463656 0.00001
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) rs190437842 0.00001
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) rs782451202 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr) rs1557178033 0.00001
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269 0.00001
NM_001110556.2(FLNA):c.3283G>A (p.Ala1095Thr) rs781864297 0.00001
NM_001110556.2(FLNA):c.3370G>A (p.Val1124Met) rs781842942 0.00001
NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val) rs782318545 0.00001
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) rs782219300 0.00001
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met) rs1557177750 0.00001
NM_001110556.2(FLNA):c.3592T>C (p.Cys1198Arg) rs781924230 0.00001
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) rs201810442 0.00001
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=) rs1557177714 0.00001
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277 0.00001
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His) rs1557177520 0.00001
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182 0.00001
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719 0.00001
NM_001110556.2(FLNA):c.4276G>A (p.Val1426Ile) rs782073521 0.00001
NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser) rs781855364 0.00001
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) rs372729831 0.00001
NM_001110556.2(FLNA):c.4803C>T (p.Asp1601=) rs1557177102 0.00001
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr) rs863223639 0.00001
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met) rs781783107 0.00001
NM_001110556.2(FLNA):c.5095G>A (p.Asp1699Asn) rs782048198 0.00001
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) rs782351877 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile) rs187497365 0.00001
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu) rs1557176526 0.00001
NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His) rs1293701269 0.00001
NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser) rs1557176498 0.00001
NM_001110556.2(FLNA):c.5319G>A (p.Pro1773=) rs782127738 0.00001
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser) rs782269425 0.00001
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) rs782448596 0.00001
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys) rs782307604 0.00001
NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys) rs782771039 0.00001
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418 0.00001
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn) rs930325486 0.00001
NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln) rs1569551872 0.00001
NM_001110556.2(FLNA):c.5908G>A (p.Asp1970Asn) rs1304255474 0.00001
NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu) rs992772682 0.00001
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met) rs200956777 0.00001
NM_001110556.2(FLNA):c.6050G>A (p.Gly2017Glu) rs1557176160 0.00001
NM_001110556.2(FLNA):c.6140C>G (p.Ala2047Gly) rs781802209 0.00001
NM_001110556.2(FLNA):c.6209T>C (p.Ile2070Thr) rs782693894 0.00001
NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn) rs781962577 0.00001
NM_001110556.2(FLNA):c.6297C>T (p.Asp2099=) rs377571943 0.00001
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met) rs1557176038 0.00001
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341 0.00001
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr) rs1222551110 0.00001
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys) rs782621818 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val) rs1004772663 0.00001
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=) rs782377203 0.00001
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys) rs782689584 0.00001
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646 0.00001
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr) rs1557175653 0.00001
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) rs1557175646 0.00001
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746 0.00001
NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu) rs1350949025 0.00001
NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser) rs782189345 0.00001
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met) rs781788290 0.00001
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser) rs1557175387 0.00001
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val) rs782563616 0.00001
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409 0.00001
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala) rs886039104 0.00001
NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg) rs1557175285 0.00001
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=) rs782709737 0.00001
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) rs371600068 0.00001
NM_001110556.2(FLNA):c.969G>A (p.Pro323=) rs782178449 0.00001
NM_001110556.2(FLNA):c.972C>T (p.Ala324=) rs781806385 0.00001
NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg) rs782724892 0.00001
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met) rs765504446 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr) rs770212471 0.00001
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu) rs746076990 0.00001
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser) rs1302645769 0.00001
NM_001172509.2(SATB2):c.1543-6C>G rs1328592029 0.00001
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys) rs756719862 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.1749T>C (p.His583=) rs199854906 0.00001
NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn) rs915648697 0.00001
NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr) rs551624897 0.00001
NM_001172509.2(SATB2):c.2196G>T (p.Gln732His) rs778160560 0.00001
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg) rs1360355424 0.00001
NM_001172509.2(SATB2):c.597+4A>G rs777983427 0.00001
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr) rs1461281024 0.00001
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys) rs367984873 0.00001
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His) rs750600368 0.00001
NM_001347721.2(DYRK1A):c.154C>G (p.Gln52Glu) rs1555977083 0.00001
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp) rs1448604709 0.00001
NM_001347721.2(DYRK1A):c.1607C>T (p.Ala536Val) rs188293397 0.00001
NM_001347721.2(DYRK1A):c.1648C>T (p.Arg550Cys) rs757222616 0.00001
NM_001347721.2(DYRK1A):c.1658T>A (p.Phe553Tyr) rs745713557 0.00001
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp) rs760957728 0.00001
NM_001347721.2(DYRK1A):c.1915G>A (p.Val639Ile) rs201421931 0.00001
NM_001347721.2(DYRK1A):c.2003A>G (p.Asn668Ser) rs543826218 0.00001
NM_001347721.2(DYRK1A):c.2071G>A (p.Val691Ile) rs540559440 0.00001
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala) rs763795503 0.00001
NM_001347721.2(DYRK1A):c.2128A>G (p.Thr710Ala) rs774450081 0.00001
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys) rs1462221945 0.00001
NM_001347721.2(DYRK1A):c.650G>A (p.Arg217His) rs758727805 0.00001
NM_001353921.2(ARHGEF9):c.1077+13C>G rs782189949 0.00001
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) rs1421919089 0.00001
NM_001353921.2(ARHGEF9):c.31-16C>T rs782420279 0.00001
NM_001353921.2(ARHGEF9):c.403-19G>A rs782062229 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_001376.5(DYNC1H1):c.11749A>C (p.Ser3917Arg) rs201024297 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn) rs749297332 0.00001
NM_001376.5(DYNC1H1):c.13449C>T (p.Ser4483=) rs112444677 0.00001
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser) rs571005578 0.00001
NM_001376.5(DYNC1H1):c.270T>C (p.Asp90=) rs760330950 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.5818-17C>A rs563758908 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7627G>A (p.Gly2543Arg) rs892693926 0.00001
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256 0.00001
NM_001429.4(EP300):c.206G>A (p.Gly69Asp) rs370355846 0.00001
NM_001429.4(EP300):c.271C>T (p.Pro91Ser) rs138538553 0.00001
NM_001429.4(EP300):c.2997+12G>A rs372770495 0.00001
NM_001429.4(EP300):c.469C>A (p.Pro157Thr) rs748538778 0.00001
NM_001429.4(EP300):c.471A>G (p.Pro157=) rs770598337 0.00001
NM_001429.4(EP300):c.5709C>T (p.Gly1903=) rs200728751 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 0.00001
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser) rs201369756 0.00001
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259 0.00001
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) rs746902106 0.00001
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser) rs558051943 0.00001
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) rs563033919 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.5898C>A (p.Ala1966=) rs770870064 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp) rs1327104134 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1485+5G>A rs1006276729 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.205-20G>A rs780403920 0.00001
NM_005120.3(MED12):c.2194G>A (p.Val732Met) rs750304793 0.00001
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr) rs756039521 0.00001
NM_005120.3(MED12):c.2265C>T (p.Val755=) rs750186446 0.00001
NM_005120.3(MED12):c.2280G>A (p.Val760=) rs753948557 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2422+16C>A rs774516868 0.00001
NM_005120.3(MED12):c.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032 0.00001
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser) rs1444442163 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985 0.00001
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val) rs1046757174 0.00001
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser) rs781638379 0.00001
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro) rs777453338 0.00001
NM_013275.6(ANKRD11):c.2889C>T (p.Asp963=) rs139955323 0.00001
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg) rs764356904 0.00001
NM_013275.6(ANKRD11):c.389A>G (p.Asn130Ser) rs745320027 0.00001
NM_013275.6(ANKRD11):c.5167A>C (p.Arg1723=) rs200482809 0.00001
NM_013275.6(ANKRD11):c.5196C>T (p.Tyr1732=) rs567432230 0.00001
NM_013275.6(ANKRD11):c.5412C>T (p.Ser1804=) rs768481687 0.00001
NM_013275.6(ANKRD11):c.5415C>T (p.Val1805=) rs549029103 0.00001
NM_013275.6(ANKRD11):c.6622T>G (p.Ser2208Ala) rs778171762 0.00001
NM_013275.6(ANKRD11):c.7368C>T (p.Cys2456=) rs139103143 0.00001
NM_013275.6(ANKRD11):c.7731A>C (p.Ser2577=) rs564437715 0.00001
NM_014795.4(ZEB2):c.1327A>G (p.Met443Val) rs763297068 0.00001
NM_014795.4(ZEB2):c.139G>T (p.Ala47Ser) rs730881184 0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met) rs780890592 0.00001
NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu) rs794727923 0.00001
NM_014795.4(ZEB2):c.2043G>A (p.Val681=) rs769391382 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala) rs1490526407 0.00001
NM_014795.4(ZEB2):c.2565C>G (p.Asn855Lys) rs904620951 0.00001
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp) rs1242134764 0.00001
NM_014795.4(ZEB2):c.2804T>C (p.Met935Thr) rs201902790 0.00001
NM_014795.4(ZEB2):c.28C>T (p.Pro10Ser) rs1451219938 0.00001
NM_014795.4(ZEB2):c.2935A>G (p.Met979Val) rs777220598 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_014795.4(ZEB2):c.467G>A (p.Arg156His) rs1250217464 0.00001
NM_014795.4(ZEB2):c.593-8G>A rs772118840 0.00001
NM_016032.4(ZDHHC9):c.487+17G>A rs572453121 0.00001
NM_016032.4(ZDHHC9):c.979-18A>G rs202246689 0.00001
NM_018026.4(PACS1):c.1491-4G>C rs1000498364 0.00001
NM_018026.4(PACS1):c.2378C>T (p.Thr793Met) rs763210681 0.00001
NM_018026.4(PACS1):c.2776+5G>A rs371976817 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_018026.4(PACS1):c.691G>C (p.Val231Leu) rs754155683 0.00001
NM_031206.7(LAS1L):c.763C>T (p.His255Tyr) rs1367442721 0.00001
NM_080632.3(UPF3B):c.265T>C (p.Leu89=) rs761622396 0.00001
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) rs779782582 0.00001
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NC_000023.11:g.154366588C>T rs782234539
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu) rs898727479
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro) rs201503118
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser) rs1449091873
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
NM_000489.6(ATRX):c.180C>T (p.Ser60=) rs2072319089
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu) rs2071363928
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
NM_000489.6(ATRX):c.20+12C>T
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
NM_000489.6(ATRX):c.21-6dup
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn) rs2148598084
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile) rs2148591370
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
NM_000489.6(ATRX):c.3090G>A (p.Lys1030=)
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
NM_000489.6(ATRX):c.3222T>G (p.Cys1074Trp)
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
NM_000489.6(ATRX):c.3342A>G (p.Lys1114=)
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
NM_000489.6(ATRX):c.3603A>G (p.Thr1201=)
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
NM_000489.6(ATRX):c.3737-9dup
NM_000489.6(ATRX):c.3810-20del
NM_000489.6(ATRX):c.3810-20dup
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr) rs930261155
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
NM_000489.6(ATRX):c.4214+18del
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
NM_000489.6(ATRX):c.4558-8del
NM_000489.6(ATRX):c.4956+12del
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5698-19G>A
NM_000489.6(ATRX):c.5698-7del rs781820607
NM_000489.6(ATRX):c.5698-7dup rs781820607
NM_000489.6(ATRX):c.5786+19C>T
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.5957-15A>G
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly) rs1557082359
NM_000489.6(ATRX):c.6110+12A>G
NM_000489.6(ATRX):c.6111-9dup rs1557079294
NM_000489.6(ATRX):c.6504+17C>A
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=) rs781823496
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
NM_000489.6(ATRX):c.6850-9dup
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
NM_000489.6(ATRX):c.7071+16A>G
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys) rs2147648778
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser) rs199543136
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
NM_001015877.2(PHF6):c.138+10C>T rs778255925
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.241-17T>C
NM_001015877.2(PHF6):c.241-20A>G
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
NM_001015877.2(PHF6):c.374+16_374+20del
NM_001015877.2(PHF6):c.399A>G (p.Lys133=) rs780193840
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
NM_001015877.2(PHF6):c.537C>G (p.Thr179=)
NM_001015877.2(PHF6):c.585+14dup
NM_001015877.2(PHF6):c.586-18T>C
NM_001015877.2(PHF6):c.648T>C (p.His216=)
NM_001015877.2(PHF6):c.888C>G (p.Ala296=)
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)
NM_001079872.2(CUL4B):c.1107A>G (p.Gln369=)
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)
NM_001079872.2(CUL4B):c.1257-9del rs746854249
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)
NM_001079872.2(CUL4B):c.1636+11C>T
NM_001079872.2(CUL4B):c.1637-13T>C
NM_001079872.2(CUL4B):c.1853-19G>A
NM_001079872.2(CUL4B):c.1939-19T>C
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
NM_001079872.2(CUL4B):c.2046+6A>C
NM_001079872.2(CUL4B):c.2161-15T>C rs183114462
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)
NM_001079872.2(CUL4B):c.557-20A>G
NM_001079872.2(CUL4B):c.747C>T (p.His249=)
NM_001079872.2(CUL4B):c.776+7dup rs200461872
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=) rs373366243
NM_001110556.2(FLNA):c.1236C>T (p.Gly412=)
NM_001110556.2(FLNA):c.1243G>A (p.Glu415Lys)
NM_001110556.2(FLNA):c.1289T>C (p.Val430Ala)
NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn)
NM_001110556.2(FLNA):c.1366G>T (p.Val456Leu) rs782495199
NM_001110556.2(FLNA):c.1400G>A (p.Arg467His)
NM_001110556.2(FLNA):c.1430-16del rs782361173
NM_001110556.2(FLNA):c.1456G>A (p.Val486Ile) rs1557179006
NM_001110556.2(FLNA):c.1482T>C (p.Gly494=)
NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)
NM_001110556.2(FLNA):c.1623G>T (p.Glu541Asp)
NM_001110556.2(FLNA):c.1664C>A (p.Thr555Lys)
NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met) rs782611953
NM_001110556.2(FLNA):c.1691+11dup
NM_001110556.2(FLNA):c.1705A>G (p.Lys569Glu)
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1900C>T (p.Arg634Cys)
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2013C>T (p.His671=)
NM_001110556.2(FLNA):c.2281-13del
NM_001110556.2(FLNA):c.2291G>C (p.Gly764Ala)
NM_001110556.2(FLNA):c.2358C>T (p.Ala786=)
NM_001110556.2(FLNA):c.2405-8_2405-5dup rs782040815
NM_001110556.2(FLNA):c.2515A>G (p.Thr839Ala)
NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys) rs782292045
NM_001110556.2(FLNA):c.2629G>A (p.Ala877Thr)
NM_001110556.2(FLNA):c.2650C>A (p.Arg884Ser)
NM_001110556.2(FLNA):c.2665C>T (p.Leu889Phe)
NM_001110556.2(FLNA):c.2826+7A>G rs782545599
NM_001110556.2(FLNA):c.2910C>G (p.Asp970Glu)
NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu) rs782513930
NM_001110556.2(FLNA):c.3144C>T (p.Asp1048=)
NM_001110556.2(FLNA):c.3253C>T (p.Pro1085Ser)
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3388G>A (p.Glu1130Lys)
NM_001110556.2(FLNA):c.33C>T (p.Ser11=)
NM_001110556.2(FLNA):c.3406A>T (p.Ile1136Phe)
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3491A>G (p.Lys1164Arg)
NM_001110556.2(FLNA):c.3514C>T (p.Arg1172Trp)
NM_001110556.2(FLNA):c.3537C>A (p.Gly1179=)
NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=) rs1396701849
NM_001110556.2(FLNA):c.3564G>A (p.Ala1188=)
NM_001110556.2(FLNA):c.3732C>T (p.Pro1244=)
NM_001110556.2(FLNA):c.374-17C>T
NM_001110556.2(FLNA):c.3805+15C>T rs144968452
NM_001110556.2(FLNA):c.3881A>C (p.Lys1294Thr)
NM_001110556.2(FLNA):c.3979+8_3979+11del rs781854538
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) rs782490288
NM_001110556.2(FLNA):c.4083C>T (p.His1361=)
NM_001110556.2(FLNA):c.4189G>A (p.Glu1397Lys)
NM_001110556.2(FLNA):c.4332T>C (p.Asp1444=)
NM_001110556.2(FLNA):c.4391G>A (p.Arg1464His)
NM_001110556.2(FLNA):c.4428C>T (p.Ser1476=)
NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr)
NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)
NM_001110556.2(FLNA):c.4488A>G (p.Pro1496=)
NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala) rs782484503
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4746C>T (p.Val1582=)
NM_001110556.2(FLNA):c.4785C>T (p.His1595=)
NM_001110556.2(FLNA):c.4808C>T (p.Thr1603Met)
NM_001110556.2(FLNA):c.495G>A (p.Lys165=)
NM_001110556.2(FLNA):c.5100G>A (p.Val1700=)
NM_001110556.2(FLNA):c.5217+13G>A rs370737630
NM_001110556.2(FLNA):c.5217+18del
NM_001110556.2(FLNA):c.5258G>A (p.Arg1753Gln)
NM_001110556.2(FLNA):c.5472A>C (p.Lys1824Asn)
NM_001110556.2(FLNA):c.5505C>T (p.Ser1835=)
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=) rs782315233
NM_001110556.2(FLNA):c.58G>T (p.Gly20Cys)
NM_001110556.2(FLNA):c.5907C>T (p.Ala1969=) rs375906241
NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met)
NM_001110556.2(FLNA):c.6034G>T (p.Val2012Leu)
NM_001110556.2(FLNA):c.609C>T (p.Asp203=)
NM_001110556.2(FLNA):c.6144T>A (p.Ser2048Arg)
NM_001110556.2(FLNA):c.6153G>A (p.Arg2051=)
NM_001110556.2(FLNA):c.6174C>T (p.His2058=)
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6302C>G (p.Thr2101Arg)
NM_001110556.2(FLNA):c.6306C>T (p.Cys2102=)
NM_001110556.2(FLNA):c.6351C>T (p.Asn2117=)
NM_001110556.2(FLNA):c.6372C>T (p.His2124=)
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys) rs782142395
NM_001110556.2(FLNA):c.6442C>T (p.Arg2148Cys)
NM_001110556.2(FLNA):c.6502+7G>A rs782202978
NM_001110556.2(FLNA):c.6546G>A (p.Ser2182=)
NM_001110556.2(FLNA):c.6564C>T (p.Ala2188=)
NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met)
NM_001110556.2(FLNA):c.6687C>T (p.Thr2229=)
NM_001110556.2(FLNA):c.6708G>A (p.Gly2236=)
NM_001110556.2(FLNA):c.7001G>A (p.Arg2334His)
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001110556.2(FLNA):c.7131G>A (p.Glu2377=)
NM_001110556.2(FLNA):c.7210G>C (p.Val2404Leu)
NM_001110556.2(FLNA):c.7256G>A (p.Arg2419Gln)
NM_001110556.2(FLNA):c.7323C>T (p.Gly2441=)
NM_001110556.2(FLNA):c.7333+18G>A
NM_001110556.2(FLNA):c.7365C>T (p.Ser2455=)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)
NM_001110556.2(FLNA):c.7683G>A (p.Val2561=)
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) rs782308141
NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110556.2(FLNA):c.7756+20G>T rs782395246
NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)
NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln)
NM_001127178.3(PIGG):c.154+11dup rs782776784
NM_001127178.3(PIGG):c.1614+9G>A rs188737876
NM_001127178.3(PIGG):c.1614+9G>C rs188737876
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127178.3(PIGG):c.759+13G>A rs201035016
NM_001172509.2(SATB2):c.1174-16del rs555268633
NM_001172509.2(SATB2):c.1174-16dup
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe) rs1323623166
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val) rs1559161533
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
NM_001172509.2(SATB2):c.1542+13del
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met) rs188013011
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
NM_001172509.2(SATB2):c.1741G>C (p.Val581Leu) rs1692196446
NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln) rs2105707537
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
NM_001172509.2(SATB2):c.1844C>T (p.Pro615Leu) rs1692191333
NM_001172509.2(SATB2):c.1970A>G (p.His657Arg) rs2105707013
NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)
NM_001172509.2(SATB2):c.2101A>G (p.Asn701Asp)
NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)
NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val) rs2105706426
NM_001172509.2(SATB2):c.2179C>T (p.Pro727Ser)
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys) rs767582582
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.598-13dup rs199978702
NM_001172509.2(SATB2):c.701-12A>C rs116585116
NM_001172509.2(SATB2):c.701-4A>G
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu) rs766855879
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
NM_001172509.2(SATB2):c.752G>A (p.Arg251His) rs2105823583
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val) rs1688735770
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
NM_001347721.2(DYRK1A):c.10+5C>T
NM_001347721.2(DYRK1A):c.1012C>T (p.Leu338Phe)
NM_001347721.2(DYRK1A):c.1121A>G (p.His374Arg)
NM_001347721.2(DYRK1A):c.1315G>A (p.Asp439Asn)
NM_001347721.2(DYRK1A):c.134A>T (p.Gln45Leu)
NM_001347721.2(DYRK1A):c.1508C>G (p.Ser503Trp) rs1555991126
NM_001347721.2(DYRK1A):c.1559C>T (p.Ser520Leu)
NM_001347721.2(DYRK1A):c.1565C>T (p.Pro522Leu) rs2148651660
NM_001347721.2(DYRK1A):c.1604C>A (p.Ala535Asp)
NM_001347721.2(DYRK1A):c.1609G>A (p.Val537Met) rs762519059
NM_001347721.2(DYRK1A):c.1645-3C>A
NM_001347721.2(DYRK1A):c.1645-7C>A rs1198926046
NM_001347721.2(DYRK1A):c.1693C>T (p.Pro565Ser) rs768231661
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys) rs1041691170
NM_001347721.2(DYRK1A):c.1751C>T (p.Pro584Leu)
NM_001347721.2(DYRK1A):c.1803CCA[4] (p.His610del) rs760576043
NM_001347721.2(DYRK1A):c.1830T>A (p.His610Gln)
NM_001347721.2(DYRK1A):c.1864A>G (p.Arg622Gly)
NM_001347721.2(DYRK1A):c.187C>A (p.Gln63Lys)
NM_001347721.2(DYRK1A):c.1898C>T (p.Thr633Ile)
NM_001347721.2(DYRK1A):c.1958C>T (p.Thr653Met)
NM_001347721.2(DYRK1A):c.2027T>A (p.Val676Glu)
NM_001347721.2(DYRK1A):c.207+4A>G
NM_001347721.2(DYRK1A):c.208-34A>G rs201001986
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val) rs1601336491
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val) rs201958918
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu) rs201958918
NM_001347721.2(DYRK1A):c.2200G>C (p.Ala734Pro) rs1413667922
NM_001347721.2(DYRK1A):c.348C>G (p.Asp116Glu) rs150200258
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile) rs1297803457
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile) rs780200883
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln) rs1057175147
NM_001347721.2(DYRK1A):c.490-3T>C
NM_001347721.2(DYRK1A):c.509G>A (p.Arg170His)
NM_001347721.2(DYRK1A):c.578T>C (p.Ile193Thr)
NM_001347721.2(DYRK1A):c.7A>G (p.Thr3Ala) rs2148427299
NM_001347721.2(DYRK1A):c.820A>G (p.Ile274Val)
NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val) rs762466544
NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)
NM_001347721.2(DYRK1A):c.924+3A>G
NM_001347721.2(DYRK1A):c.925-3C>T
NM_001353921.2(ARHGEF9):c.120C>T (p.Asp40=)
NM_001353921.2(ARHGEF9):c.1321+16G>T
NM_001353921.2(ARHGEF9):c.1322-10del
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu) rs374753195
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
NM_001353921.2(ARHGEF9):c.30+10T>C
NM_001353921.2(ARHGEF9):c.403-13dup
NM_001353921.2(ARHGEF9):c.583-13del
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) rs782497496
NM_001353921.2(ARHGEF9):c.816-12_816-11del rs781845457
NM_001376.5(DYNC1H1):c.11055+22dup rs777865098
NM_001376.5(DYNC1H1):c.1122T>A (p.Ile374=) rs777210028
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11942-20_11947dup rs745960214
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.12355C>A (p.His4119Asn)
NM_001376.5(DYNC1H1):c.12564G>A (p.Ala4188=) rs370064490
NM_001376.5(DYNC1H1):c.12685-3del rs751203379
NM_001376.5(DYNC1H1):c.13118G>A (p.Arg4373His) rs1366928812
NM_001376.5(DYNC1H1):c.13515+17C>G
NM_001376.5(DYNC1H1):c.2937A>G (p.Arg979=)
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.314T>C (p.Ile105Thr)
NM_001376.5(DYNC1H1):c.3296A>G (p.Lys1099Arg)
NM_001376.5(DYNC1H1):c.3565-12dup
NM_001376.5(DYNC1H1):c.3804+20del
NM_001376.5(DYNC1H1):c.6144A>G (p.Leu2048=)
NM_001376.5(DYNC1H1):c.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6222-9_6222-7del rs747347010
NM_001376.5(DYNC1H1):c.6324C>A (p.Ile2108=)
NM_001376.5(DYNC1H1):c.6858-15dup
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) rs769311346
NM_001376.5(DYNC1H1):c.7158G>A (p.Pro2386=) rs773186619
NM_001376.5(DYNC1H1):c.8508-5dup
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=) rs532073330
NM_001376.5(DYNC1H1):c.9469-8del
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) rs2295445
NM_001376.5(DYNC1H1):c.9643-6C>T
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
NM_001429.4(EP300):c.1047C>T (p.His349=)
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1283-19dup
NM_001429.4(EP300):c.1283-6C>G
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
NM_001429.4(EP300):c.1456G>A (p.Val486Met)
NM_001429.4(EP300):c.156A>G (p.Glu52=)
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn) rs547550163
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
NM_001429.4(EP300):c.1878+19dup
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
NM_001429.4(EP300):c.2053+18T>C
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.208A>G (p.Met70Val)
NM_001429.4(EP300):c.2131+18_2131+19inv
NM_001429.4(EP300):c.2131+24dup rs766192274
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
NM_001429.4(EP300):c.222A>T (p.Ala74=)
NM_001429.4(EP300):c.2237A>G (p.Asn746Ser)
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
NM_001429.4(EP300):c.2505A>G (p.Val835=)
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
NM_001429.4(EP300):c.2981C>T (p.Pro994Leu)
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
NM_001429.4(EP300):c.3135G>A (p.Lys1045=)
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3143-5_3143-4dup rs757931697
NM_001429.4(EP300):c.3143-6_3143-4dup
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
NM_001429.4(EP300):c.3262-13C>T
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.33T>A (p.Pro11=)
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
NM_001429.4(EP300):c.372C>T (p.Ser124=)
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3811G>A (p.Val1271Ile)
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.3996C>T (p.Thr1332=) rs142288817
NM_001429.4(EP300):c.410G>C (p.Gly137Ala)
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
NM_001429.4(EP300):c.4236A>G (p.Ala1412=)
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4863C>T (p.Cys1621=)
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
NM_001429.4(EP300):c.5016A>G (p.Glu1672=)
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
NM_001429.4(EP300):c.5737A>C (p.Thr1913Pro)
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
NM_001429.4(EP300):c.605G>A (p.Arg202Gln)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
NM_001429.4(EP300):c.63G>C (p.Pro21=)
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
NM_001429.4(EP300):c.6447A>G (p.Gln2149=)
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
NM_001429.4(EP300):c.6591A>G (p.Ala2197=)
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
NM_001429.4(EP300):c.6975C>G (p.Ser2325=)
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
NM_001429.4(EP300):c.7129G>A (p.Ala2377Thr)
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7186A>G (p.Ser2396Gly)
NM_001429.4(EP300):c.7192G>A (p.Asp2398Asn)
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.750C>T (p.Pro250=)
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
NM_001429.4(EP300):c.80C>T (p.Ala27Val)
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
NM_001429.4(EP300):c.933G>A (p.Gln311=)
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
NM_001429.4(EP300):c.963A>G (p.Gln321=)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
NM_004380.3(CREBBP):c.1509G>T (p.Gln503His)
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
NM_004380.3(CREBBP):c.1941+18G>A
NM_004380.3(CREBBP):c.1942-17A>G
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
NM_004380.3(CREBBP):c.2056C>T (p.Pro686Ser)
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.216G>T (p.Glu72Asp)
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2266A>G (p.Met756Val)
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
NM_004380.3(CREBBP):c.2577T>C (p.Pro859=)
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
NM_004380.3(CREBBP):c.2911A>G (p.Arg971Gly)
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
NM_004380.3(CREBBP):c.2964A>G (p.Pro988=)
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser) rs886042430
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.3232T>C (p.Ser1078Pro)
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
NM_004380.3(CREBBP):c.3498C>G (p.Leu1166=)
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
NM_004380.3(CREBBP):c.3594T>C (p.Tyr1198=)
NM_004380.3(CREBBP):c.3690T>C (p.Tyr1230=)
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
NM_004380.3(CREBBP):c.411A>T (p.Ala137=)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.417C>T (p.Ser139=)
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.486G>A (p.Ala162=)
NM_004380.3(CREBBP):c.4890+16G>A
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
NM_004380.3(CREBBP):c.57G>T (p.Ser19=)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)
NM_004380.3(CREBBP):c.6039G>A (p.Met2013Ile)
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
NM_004380.3(CREBBP):c.6087G>A (p.Gln2029=)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6157A>G (p.Met2053Val)
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
NM_004380.3(CREBBP):c.6712G>A (p.Gly2238Arg)
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
NM_004380.3(CREBBP):c.7126G>A (p.Val2376Ile)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.7266C>T (p.Ser2422=)
NM_004380.3(CREBBP):c.7275C>G (p.Ser2425=)
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
NM_004380.3(CREBBP):c.962A>G (p.Asn321Ser)
NM_004380.3(CREBBP):c.976-3del
NM_004586.3(RPS6KA3):c.1000-10del rs748680802
NM_004586.3(RPS6KA3):c.1000-19dup rs748680802
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
NM_004586.3(RPS6KA3):c.1035A>G (p.Lys345=)
NM_004586.3(RPS6KA3):c.1103-10C>T
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
NM_004586.3(RPS6KA3):c.126+13T>C
NM_004586.3(RPS6KA3):c.127-14G>A
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
NM_004586.3(RPS6KA3):c.1353+13dup rs766402947
NM_004586.3(RPS6KA3):c.1353+5A>T
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
NM_004586.3(RPS6KA3):c.1842-7A>G
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
NM_004586.3(RPS6KA3):c.406+12C>A
NM_004586.3(RPS6KA3):c.406+13C>T
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
NM_004586.3(RPS6KA3):c.53C>G (p.Pro18Arg)
NM_004586.3(RPS6KA3):c.543A>G (p.Leu181=)
NM_004586.3(RPS6KA3):c.555T>C (p.His185=)
NM_004586.3(RPS6KA3):c.593+16A>G
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
NM_004586.3(RPS6KA3):c.631+12del
NM_004586.3(RPS6KA3):c.631+12dup rs751517771
NM_004586.3(RPS6KA3):c.631+13T>C
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
NM_004586.3(RPS6KA3):c.70-20G>A
NM_004586.3(RPS6KA3):c.845+10C>T
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
NM_005120.3(MED12):c.1101+14G>A
NM_005120.3(MED12):c.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln)
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
NM_005120.3(MED12):c.1409G>A (p.Arg470His)
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr) rs370812643
NM_005120.3(MED12):c.171C>T (p.Gly57=)
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2372-8del
NM_005120.3(MED12):c.2372-9C>T
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
NM_005120.3(MED12):c.2423-6C>T
NM_005120.3(MED12):c.2568C>T (p.Ile856=)
NM_005120.3(MED12):c.2685+20G>A
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
NM_005120.3(MED12):c.3355-11T>C
NM_005120.3(MED12):c.3355-14G>T
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
NM_005120.3(MED12):c.3549G>A (p.Pro1183=)
NM_005120.3(MED12):c.3567G>T (p.Gln1189His) rs2147804945
NM_005120.3(MED12):c.3691+9dup rs966516434
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
NM_005120.3(MED12):c.4527+18A>G
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
NM_005120.3(MED12):c.4727+17C>T
NM_005120.3(MED12):c.4780T>C (p.Leu1594=)
NM_005120.3(MED12):c.4806G>A (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.5025+20C>T
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
NM_005120.3(MED12):c.5490A>G (p.Thr1830=)
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
NM_005120.3(MED12):c.5749-11del rs2147830057
NM_005120.3(MED12):c.5749-15C>T
NM_005120.3(MED12):c.5827-15C>T
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6408+22del
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
NM_005120.3(MED12):c.6491-20T>C
NM_005120.3(MED12):c.751A>C (p.Arg251=)
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
NM_005120.3(MED12):c.846+6dup
NM_005120.3(MED12):c.954T>C (p.His318=)
NM_005120.3(MED12):c.958A>G (p.Ile320Val) rs781192327
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053
NM_006950.3(SYN1):c.1056-14_1056-8del rs377385507
NM_006950.3(SYN1):c.1159-3del
NM_006950.3(SYN1):c.144C>G (p.Thr48=)
NM_006950.3(SYN1):c.1821G>T (p.Ala607=)
NM_013275.6(ANKRD11):c.-268GCC[5] rs953053004
NM_013275.6(ANKRD11):c.1019C>T (p.Thr340Met)
NM_013275.6(ANKRD11):c.1022C>G (p.Ala341Gly)
NM_013275.6(ANKRD11):c.1056C>T (p.Asp352=)
NM_013275.6(ANKRD11):c.1079C>T (p.Pro360Leu)
NM_013275.6(ANKRD11):c.111C>T (p.Thr37=)
NM_013275.6(ANKRD11):c.112A>C (p.Lys38Gln)
NM_013275.6(ANKRD11):c.1254C>G (p.Val418=)
NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=) rs74033734
NM_013275.6(ANKRD11):c.130C>T (p.Arg44Cys)
NM_013275.6(ANKRD11):c.135C>T (p.Gly45=)
NM_013275.6(ANKRD11):c.141C>T (p.Gly47=)
NM_013275.6(ANKRD11):c.1440G>A (p.Glu480=)
NM_013275.6(ANKRD11):c.151G>T (p.Val51Leu)
NM_013275.6(ANKRD11):c.1671G>A (p.Pro557=)
NM_013275.6(ANKRD11):c.1674T>C (p.Ala558=)
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly) rs115797011
NM_013275.6(ANKRD11):c.190G>A (p.Ala64Thr)
NM_013275.6(ANKRD11):c.191C>T (p.Ala64Val)
NM_013275.6(ANKRD11):c.218C>T (p.Ser73Leu)
NM_013275.6(ANKRD11):c.221A>G (p.Asp74Gly)
NM_013275.6(ANKRD11):c.245G>A (p.Arg82Gln)
NM_013275.6(ANKRD11):c.249G>A (p.Lys83=)
NM_013275.6(ANKRD11):c.2944G>C (p.Glu982Gln)
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu) rs137894790
NM_013275.6(ANKRD11):c.3432G>A (p.Pro1144=)
NM_013275.6(ANKRD11):c.355C>T (p.Leu119Phe)
NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=) rs62000377
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln) rs1276607391
NM_013275.6(ANKRD11):c.3825C>T (p.Asp1275=)
NM_013275.6(ANKRD11):c.3880G>C (p.Glu1294Gln)
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=) rs143428884
NM_013275.6(ANKRD11):c.401A>G (p.Asp134Gly)
NM_013275.6(ANKRD11):c.430A>G (p.Thr144Ala)
NM_013275.6(ANKRD11):c.4367T>C (p.Leu1456Pro)
NM_013275.6(ANKRD11):c.4442C>T (p.Ala1481Val)
NM_013275.6(ANKRD11):c.450G>A (p.Thr150=)
NM_013275.6(ANKRD11):c.458C>G (p.Ser153Cys)
NM_013275.6(ANKRD11):c.4912C>G (p.Pro1638Ala) rs113527563
NM_013275.6(ANKRD11):c.525C>T (p.Ala175=)
NM_013275.6(ANKRD11):c.540C>T (p.Asp180=)
NM_013275.6(ANKRD11):c.544C>T (p.Arg182Trp)
NM_013275.6(ANKRD11):c.5464G>A (p.Asp1822Asn)
NM_013275.6(ANKRD11):c.580G>A (p.Val194Ile)
NM_013275.6(ANKRD11):c.5877C>T (p.Ala1959=)
NM_013275.6(ANKRD11):c.5908C>A (p.Pro1970Thr)
NM_013275.6(ANKRD11):c.5964C>T (p.Pro1988=)
NM_013275.6(ANKRD11):c.597C>T (p.Phe199=)
NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=) rs542077760
NM_013275.6(ANKRD11):c.6079C>G (p.Leu2027Val)
NM_013275.6(ANKRD11):c.609G>A (p.Thr203=)
NM_013275.6(ANKRD11):c.612G>A (p.Ala204=)
NM_013275.6(ANKRD11):c.6336C>T (p.Leu2112=)
NM_013275.6(ANKRD11):c.642C>T (p.Tyr214=)
NM_013275.6(ANKRD11):c.649G>A (p.Ala217Thr)
NM_013275.6(ANKRD11):c.6579C>T (p.Asp2193=)
NM_013275.6(ANKRD11):c.6602C>T (p.Ala2201Val)
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser) rs201957371
NM_013275.6(ANKRD11):c.6828G>A (p.Pro2276=)
NM_013275.6(ANKRD11):c.6864C>T (p.Ala2288=)
NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly) rs576742682
NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val) rs576742682
NM_013275.6(ANKRD11):c.705C>T (p.Asp235=)
NM_013275.6(ANKRD11):c.717C>T (p.His239=)
NM_013275.6(ANKRD11):c.7407C>T (p.Tyr2469=)
NM_013275.6(ANKRD11):c.745-19G>A
NM_013275.6(ANKRD11):c.7471-17T>G
NM_013275.6(ANKRD11):c.7806+11C>T rs777198327
NM_013275.6(ANKRD11):c.7806+14G>A
NM_013275.6(ANKRD11):c.810G>A (p.Pro270=)
NM_013275.6(ANKRD11):c.81G>A (p.Gly27=)
NM_013275.6(ANKRD11):c.833C>T (p.Thr278Met)
NM_013275.6(ANKRD11):c.843C>T (p.Asn281=) rs912859980
NM_013275.6(ANKRD11):c.846C>T (p.Leu282=)
NM_013275.6(ANKRD11):c.867C>T (p.Tyr289=)
NM_013275.6(ANKRD11):c.876C>T (p.Ser292=)
NM_013275.6(ANKRD11):c.893-13C>T
NM_013275.6(ANKRD11):c.914C>T (p.Ala305Val)
NM_014795.4(ZEB2):c.1204G>A (p.Val402Ile)
NM_014795.4(ZEB2):c.1238G>A (p.Ser413Asn)
NM_014795.4(ZEB2):c.1262G>C (p.Gly421Ala) rs2149877371
NM_014795.4(ZEB2):c.1291T>A (p.Ser431Thr) rs1267201464
NM_014795.4(ZEB2):c.1361A>T (p.Asn454Ile) rs1560607170
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp) rs886043609
NM_014795.4(ZEB2):c.1447A>G (p.Ile483Val)
NM_014795.4(ZEB2):c.1491A>C (p.Gln497His) rs200378546
NM_014795.4(ZEB2):c.1534G>A (p.Gly512Ser) rs141781307
NM_014795.4(ZEB2):c.1534G>T (p.Gly512Cys) rs141781307
NM_014795.4(ZEB2):c.1564A>G (p.Thr522Ala)
NM_014795.4(ZEB2):c.1598T>C (p.Val533Ala)
NM_014795.4(ZEB2):c.1601A>T (p.Asn534Ile)
NM_014795.4(ZEB2):c.1637A>T (p.Asp546Val)
NM_014795.4(ZEB2):c.1688T>C (p.Ile563Thr)
NM_014795.4(ZEB2):c.1711A>G (p.Met571Val) rs2149877101
NM_014795.4(ZEB2):c.1713G>A (p.Met571Ile) rs1451965551
NM_014795.4(ZEB2):c.1727A>G (p.Asn576Ser) rs748955225
NM_014795.4(ZEB2):c.1869C>A (p.Asn623Lys)
NM_014795.4(ZEB2):c.1879G>A (p.Val627Ile) rs1703275164
NM_014795.4(ZEB2):c.1888G>A (p.Asp630Asn)
NM_014795.4(ZEB2):c.1897G>T (p.Ala633Ser) rs2149876991
NM_014795.4(ZEB2):c.193G>A (p.Val65Met) rs2149891224
NM_014795.4(ZEB2):c.1958A>G (p.Lys653Arg)
NM_014795.4(ZEB2):c.1966A>G (p.Met656Val)
NM_014795.4(ZEB2):c.1993A>G (p.Met665Val) rs1388932284
NM_014795.4(ZEB2):c.203A>G (p.His68Arg)
NM_014795.4(ZEB2):c.2119T>A (p.Ser707Thr) rs1244099058
NM_014795.4(ZEB2):c.2204C>T (p.Pro735Leu)
NM_014795.4(ZEB2):c.224G>A (p.Ser75Asn) rs1703745750
NM_014795.4(ZEB2):c.2255C>G (p.Thr752Arg) rs143438888
NM_014795.4(ZEB2):c.242G>C (p.Arg81Thr) rs1703745146
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr) rs1553961536
NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn) rs730881198
NM_014795.4(ZEB2):c.2494G>A (p.Ala832Thr) rs1573715635
NM_014795.4(ZEB2):c.2519G>A (p.Ser840Asn)
NM_014795.4(ZEB2):c.2537A>G (p.His846Arg)
NM_014795.4(ZEB2):c.2538T>A (p.His846Gln) rs557767273
NM_014795.4(ZEB2):c.2641A>C (p.Asn881His) rs794727922
NM_014795.4(ZEB2):c.2707G>A (p.Ala903Thr) rs730881200
NM_014795.4(ZEB2):c.2847G>A (p.Met949Ile) rs1703257497
NM_014795.4(ZEB2):c.2863T>C (p.Tyr955His)
NM_014795.4(ZEB2):c.2896C>T (p.Leu966Phe)
NM_014795.4(ZEB2):c.2951C>T (p.Ser984Phe) rs143474223
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.3201G>A (p.Ser1067=) rs730881180
NM_014795.4(ZEB2):c.32G>A (p.Arg11Gln) rs1476193985
NM_014795.4(ZEB2):c.3327C>A (p.Asn1109Lys) rs1288140327
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val) rs1360979536
NM_014795.4(ZEB2):c.3565T>C (p.Ser1189Pro)
NM_014795.4(ZEB2):c.3574G>T (p.Asp1192Tyr)
NM_014795.4(ZEB2):c.520A>G (p.Ile174Val)
NM_014795.4(ZEB2):c.582A>C (p.Gln194His) rs918109625
NM_014795.4(ZEB2):c.592+6G>A
NM_014795.4(ZEB2):c.593-27CT[5]
NM_014795.4(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014795.4(ZEB2):c.74-27_74-20dup rs748573164
NM_014795.4(ZEB2):c.74-3C>T rs984545941
NM_014795.4(ZEB2):c.757C>A (p.Arg253Ser) rs760301787
NM_014795.4(ZEB2):c.807+3G>A rs144925893
NM_014795.4(ZEB2):c.807+3G>T rs144925893
NM_014795.4(ZEB2):c.807+8del rs1411186011
NM_014795.4(ZEB2):c.807+8dup rs1411186011
NM_014795.4(ZEB2):c.9G>A (p.Gln3=) rs149882004
NM_014795.4(ZEB2):c.9G>C (p.Gln3His) rs149882004
NM_016032.4(ZDHHC9):c.488-15C>G
NM_016032.4(ZDHHC9):c.488-19CT[3] rs762762877
NM_016032.4(ZDHHC9):c.621C>T (p.Ala207=)
NM_016032.4(ZDHHC9):c.674+10G>A
NM_016032.4(ZDHHC9):c.714C>T (p.Ser238=)
NM_016032.4(ZDHHC9):c.987A>C (p.Thr329=)
NM_018026.4(PACS1):c.1067G>A (p.Arg356His)
NM_018026.4(PACS1):c.1199+10C>G rs199906288
NM_018026.4(PACS1):c.1199+11dup
NM_018026.4(PACS1):c.1199+3G>A
NM_018026.4(PACS1):c.1216A>T (p.Met406Leu)
NM_018026.4(PACS1):c.1218G>A (p.Met406Ile)
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
NM_018026.4(PACS1):c.1286C>A (p.Thr429Asn) rs760985201
NM_018026.4(PACS1):c.1325C>G (p.Ser442Cys)
NM_018026.4(PACS1):c.1408A>G (p.Ser470Gly)
NM_018026.4(PACS1):c.1423G>C (p.Val475Leu)
NM_018026.4(PACS1):c.1463C>T (p.Thr488Met)
NM_018026.4(PACS1):c.1517G>A (p.Arg506Gln)
NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg)
NM_018026.4(PACS1):c.1534C>T (p.Pro512Ser)
NM_018026.4(PACS1):c.1613G>C (p.Gly538Ala)
NM_018026.4(PACS1):c.1626+4C>A
NM_018026.4(PACS1):c.1804G>A (p.Val602Met)
NM_018026.4(PACS1):c.1910C>T (p.Ser637Phe)
NM_018026.4(PACS1):c.2045G>T (p.Ser682Ile)
NM_018026.4(PACS1):c.2108A>T (p.Gln703Leu)
NM_018026.4(PACS1):c.2133G>A (p.Met711Ile)
NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser)
NM_018026.4(PACS1):c.2283C>T (p.Pro761=)
NM_018026.4(PACS1):c.2336C>T (p.Ser779Phe)
NM_018026.4(PACS1):c.2353A>G (p.Ser785Gly)
NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln) rs1855762487
NM_018026.4(PACS1):c.2374G>A (p.Ala792Thr)
NM_018026.4(PACS1):c.2383A>C (p.Thr795Pro)
NM_018026.4(PACS1):c.2450G>C (p.Gly817Ala) rs1855812873
NM_018026.4(PACS1):c.2455G>A (p.Val819Met)
NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg)
NM_018026.4(PACS1):c.2528C>T (p.Ala843Val)
NM_018026.4(PACS1):c.2656+22del
NM_018026.4(PACS1):c.2698G>A (p.Val900Met)
NM_018026.4(PACS1):c.2749G>A (p.Ala917Thr)
NM_018026.4(PACS1):c.385G>C (p.Val129Leu)
NM_018026.4(PACS1):c.424G>A (p.Val142Ile) rs2134674046
NM_018026.4(PACS1):c.445-15T>C rs182977545
NM_018026.4(PACS1):c.534+3G>A rs2134698969
NM_018026.4(PACS1):c.535-12del
NM_018026.4(PACS1):c.661-5C>G rs79265330
NM_018026.4(PACS1):c.676A>C (p.Asn226His) rs1175983246
NM_018026.4(PACS1):c.731C>G (p.Pro244Arg)
NM_018026.4(PACS1):c.794C>G (p.Ser265Cys)
NM_018026.4(PACS1):c.897+16C>T
NM_018026.4(PACS1):c.897+9C>G rs184374266
NM_018026.4(PACS1):c.926G>A (p.Arg309Gln)
NM_024665.7(TBL1XR1):c.1123-14del
NM_024665.7(TBL1XR1):c.1417-12dup rs753561692
NM_024665.7(TBL1XR1):c.1417-16_1417-15dup rs753561692
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=) rs544818049
NM_024665.7(TBL1XR1):c.1519-21_1519-18del rs777937343
NM_024665.7(TBL1XR1):c.561-5dup
NM_024665.7(TBL1XR1):c.59-3dup
NM_024665.7(TBL1XR1):c.703-10del
NM_024665.7(TBL1XR1):c.865-20del rs1376809747
NM_024665.7(TBL1XR1):c.865-9del
NM_031206.7(LAS1L):c.1114G>A (p.Val372Ile) rs186130633
NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)
NM_031206.7(LAS1L):c.1301-18T>A
NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1]) rs766197666
NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del) rs750470319
NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)
NM_031206.7(LAS1L):c.362+20G>C
NM_080632.3(UPF3B):c.1001C>T (p.Pro334Leu)
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
NM_080632.3(UPF3B):c.157-16T>G rs769285530
NM_080632.3(UPF3B):c.263+14_263+18dup
NM_080632.3(UPF3B):c.263+15_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+18del rs55712755
NM_080632.3(UPF3B):c.263+18dup rs55712755
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.370+20G>A
NM_080632.3(UPF3B):c.371-9del
NM_080632.3(UPF3B):c.371-9dup
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
NM_080632.3(UPF3B):c.470-17C>T
NM_080632.3(UPF3B):c.480T>C (p.Tyr160=)
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)
NM_152564.5(VPS13B):c.11496-7dup
NM_152564.5(VPS13B):c.11745+15del rs1450725730
NM_152564.5(VPS13B):c.11746-10dup
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.148-11del
NM_152564.5(VPS13B):c.2013+9del rs2132597306
NM_152564.5(VPS13B):c.2208+9del rs2132624713
NM_152564.5(VPS13B):c.2209-4T>G rs201309214
NM_152564.5(VPS13B):c.2934+25dup rs770873113
NM_152564.5(VPS13B):c.3445+20dup
NM_152564.5(VPS13B):c.3667-14dup
NM_152564.5(VPS13B):c.413-12del
NM_152564.5(VPS13B):c.413-12dup
NM_152564.5(VPS13B):c.4633+22del rs756149542
NM_152564.5(VPS13B):c.4633+22dup rs756149542
NM_152564.5(VPS13B):c.5076+22del
NM_152564.5(VPS13B):c.5077-8del
NM_152564.5(VPS13B):c.5221-8dup rs2133931327
NM_152564.5(VPS13B):c.581-9del
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.6046+17del
NM_152564.5(VPS13B):c.6454+19del rs772522395
NM_152564.5(VPS13B):c.6455-4del rs398124337
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-5_6455-4dup
NM_152564.5(VPS13B):c.6658-13del
NM_152564.5(VPS13B):c.6658-13dup
NM_152564.5(VPS13B):c.6658-5dup
NM_152564.5(VPS13B):c.7051-13del
NM_152564.5(VPS13B):c.7429+14dup rs747441995
NM_152564.5(VPS13B):c.762+19dup rs770716174
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
NM_152564.5(VPS13B):c.7942-7dup
NM_152564.5(VPS13B):c.8446-5del rs760534492
NM_152564.5(VPS13B):c.8792+24dup
NM_152564.5(VPS13B):c.8994+16del
NM_152564.5(VPS13B):c.9742+13C>T rs112919682
NM_152564.5(VPS13B):c.9742+9dup

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