ClinVar Miner

List of variants studied for infantile spasms

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3170
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HGVS dbSNP gnomAD frequency
NM_021927.3(GUF1):c.586-27T>A rs58659516 0.97959
NM_021927.3(GUF1):c.1715+8C>G rs12641137 0.97958
NM_021927.3(GUF1):c.586-28_586-27insA rs112232487 0.97958
NM_021927.3(GUF1):c.585+27C>T rs13117025 0.96436
NM_152309.3(PIK3AP1):c.1576C>T (p.Leu526=) rs4344416 0.87861
NM_006279.5(ST3GAL3):c.1038+15A>G rs3120803 0.84897
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864 0.74835
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862 0.72171
NM_006279.5(ST3GAL3):c.1039-18C>T rs2108202 0.59490
NM_152309.3(PIK3AP1):c.1773G>A (p.Ser591=) rs3748234 0.54017
NM_021927.3(GUF1):c.173T>C (p.Leu58Pro) rs6447368 0.52633
NM_021927.3(GUF1):c.1872+23T>G rs6851576 0.52617
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_152309.3(PIK3AP1):c.247G>T (p.Ala83Ser) rs3748229 0.37094
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_152309.3(PIK3AP1):c.2103T>C (p.Ser701=) rs3748236 0.25229
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_152309.3(PIK3AP1):c.1913A>G (p.Lys638Arg) rs12784975 0.17461
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000834.5(GRIN2B):c.1125+20A>G rs11055581 0.14832
NM_152309.3(PIK3AP1):c.61G>A (p.Glu21Lys) rs17112076 0.13165
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_000834.5(GRIN2B):c.1126-12A>G rs76777620 0.03782
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03378
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388 0.03062
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246 0.02603
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_152309.3(PIK3AP1):c.828C>T (p.Ala276=) rs35668691 0.02430
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952 0.02352
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865 0.02288
NM_152309.3(PIK3AP1):c.2171-7C>T rs111902593 0.02273
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539 0.01980
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) rs36031537 0.01733
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_152309.3(PIK3AP1):c.20C>T (p.Pro7Leu) rs73334383 0.01102
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) rs35025065 0.00902
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_152309.3(PIK3AP1):c.1506T>C (p.Asp502=) rs74496843 0.00731
NM_152309.3(PIK3AP1):c.1092G>A (p.Ala364=) rs35035564 0.00647
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00538
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951 0.00509
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543 0.00379
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001130438.3(SPTAN1):c.931-16C>T rs149289060 0.00285
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_152309.3(PIK3AP1):c.861T>C (p.Phe287=) rs138990701 0.00235
NM_003159.3(CDKL5):c.2994C>T (p.Phe998=) rs150900695 0.00231
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_152309.3(PIK3AP1):c.767G>A (p.Cys256Tyr) rs141221035 0.00177
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_152309.3(PIK3AP1):c.2076A>G (p.Gly692=) rs141067860 0.00168
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00161
NM_152309.3(PIK3AP1):c.217G>T (p.Ala73Ser) rs146527410 0.00156
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_152309.3(PIK3AP1):c.2337G>A (p.Val779=) rs145459703 0.00152
NM_152309.3(PIK3AP1):c.975A>G (p.Glu325=) rs34642975 0.00150
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000834.5(GRIN2B):c.3117C>T (p.Tyr1039=) rs147762014 0.00123
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001323289.2(CDKL5):c.283-12T>C rs188879559 0.00110
NM_000834.5(GRIN2B):c.1338A>G (p.Thr446=) rs141031272 0.00102
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568 0.00101
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_152309.3(PIK3AP1):c.549G>A (p.Pro183=) rs139678848 0.00086
NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser) rs140744818 0.00085
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_000834.5(GRIN2B):c.1569C>T (p.Val523=) rs148573953 0.00081
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001323289.2(CDKL5):c.2046+12del rs766762463 0.00076
NM_152309.3(PIK3AP1):c.387G>A (p.Glu129=) rs149682608 0.00075
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_152309.3(PIK3AP1):c.1806G>A (p.Thr602=) rs147512410 0.00073
NM_152309.3(PIK3AP1):c.471C>T (p.Asp157=) rs117500254 0.00071
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) rs77299791 0.00070
NM_152309.3(PIK3AP1):c.2251G>T (p.Val751Phe) rs147376017 0.00069
NM_000834.5(GRIN2B):c.1780+8C>T rs199986080 0.00068
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900 0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867 0.00067
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_152309.3(PIK3AP1):c.1412T>A (p.Ile471Asn) rs145525421 0.00062
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp) rs199930602 0.00058
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378 0.00050
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_152309.3(PIK3AP1):c.1651G>A (p.Glu551Lys) rs3748233 0.00050
NM_152309.3(PIK3AP1):c.1551T>C (p.Asp517=) rs142087930 0.00048
NM_152309.3(PIK3AP1):c.1735G>A (p.Gly579Arg) rs144966728 0.00048
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg) rs139919081 0.00047
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=) rs147373250 0.00045
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_152309.3(PIK3AP1):c.1370A>G (p.Asp457Gly) rs138047705 0.00044
NM_000834.5(GRIN2B):c.3389G>A (p.Arg1130Gln) rs148625092 0.00043
NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=) rs112932810 0.00043
NM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315 0.00041
NM_000834.5(GRIN2B):c.812C>T (p.Ala271Val) rs138098032 0.00041
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132 0.00038
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966 0.00035
NM_152309.3(PIK3AP1):c.1495C>T (p.Leu499=) rs199720844 0.00034
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607 0.00033
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_152309.3(PIK3AP1):c.2335G>A (p.Val779Met) rs45587542 0.00032
NM_006279.5(ST3GAL3):c.118+36C>G rs149404491 0.00031
NM_000834.5(GRIN2B):c.45G>A (p.Val15=) rs374735893 0.00030
NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=) rs201824606 0.00030
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_000834.5(GRIN2B):c.3799G>T (p.Ala1267Ser) rs141844705 0.00029
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012 0.00029
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670 0.00029
NM_152309.3(PIK3AP1):c.2177C>T (p.Thr726Ile) rs113976248 0.00029
NM_152309.3(PIK3AP1):c.774C>T (p.Thr258=) rs199687287 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_000834.5(GRIN2B):c.2703G>A (p.Leu901=) rs145005918 0.00026
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_000834.5(GRIN2B):c.3413G>A (p.Arg1138Gln) rs187979330 0.00025
NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=) rs201568782 0.00024
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442 0.00024
NM_152309.3(PIK3AP1):c.1555G>A (p.Asp519Asn) rs370707189 0.00024
NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=) rs142935139 0.00023
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00023
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529 0.00022
NM_152309.3(PIK3AP1):c.1302G>A (p.Ser434=) rs140843691 0.00022
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113 0.00021
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=) rs142777123 0.00020
NM_001323289.2(CDKL5):c.2276+12G>C rs372909446 0.00020
NM_152309.3(PIK3AP1):c.568-16C>T rs369779741 0.00020
NM_000834.5(GRIN2B):c.2813G>A (p.Arg938His) rs150445188 0.00019
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071 0.00019
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_152309.3(PIK3AP1):c.989-12G>C rs201975171 0.00019
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_000834.5(GRIN2B):c.1780+9G>A rs201461091 0.00017
NM_000834.5(GRIN2B):c.2599-19C>A rs3751258 0.00017
NM_152309.3(PIK3AP1):c.729C>T (p.Asn243=) rs571900807 0.00017
NM_000834.5(GRIN2B):c.1704C>T (p.Ile568=) rs202102041 0.00016
NM_000834.5(GRIN2B):c.189C>T (p.Ser63=) rs199707487 0.00016
NM_000834.5(GRIN2B):c.3648C>T (p.Arg1216=) rs201405157 0.00016
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_152309.3(PIK3AP1):c.285G>T (p.Pro95=) rs777298829 0.00016
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=) rs189384622 0.00015
NM_152309.3(PIK3AP1):c.360T>C (p.His120=) rs549333065 0.00015
NM_000834.5(GRIN2B):c.2712G>A (p.Thr904=) rs199843136 0.00014
NM_000834.5(GRIN2B):c.291G>A (p.Val97=) rs202223470 0.00014
NM_000834.5(GRIN2B):c.3462C>T (p.Ile1154=) rs373548904 0.00014
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_021927.3(GUF1):c.514C>G (p.Gln172Glu) rs116300982 0.00014
NM_152309.3(PIK3AP1):c.1492A>G (p.Asn498Asp) rs746475285 0.00014
NM_152309.3(PIK3AP1):c.508C>A (p.Pro170Thr) rs150666185 0.00014
NM_001323289.2(CDKL5):c.464-9A>G rs374030184 0.00013
NM_003159.3(CDKL5):c.2797+19A>G rs375809338 0.00013
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_152309.3(PIK3AP1):c.2120C>T (p.Thr707Met) rs201595275 0.00013
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.413T>C (p.Met138Thr) rs767527240 0.00012
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550 0.00012
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_152309.3(PIK3AP1):c.1376-8C>T rs754562989 0.00012
NM_000834.5(GRIN2B):c.1328+17A>G rs201560542 0.00011
NM_000834.5(GRIN2B):c.190G>A (p.Val64Met) rs150070901 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_152309.3(PIK3AP1):c.1941+13G>A rs369291853 0.00011
NM_000834.5(GRIN2B):c.1781-3C>T rs201520798 0.00010
NM_000834.5(GRIN2B):c.2172-6G>A rs201390691 0.00010
NM_000834.5(GRIN2B):c.681C>A (p.Ile227=) rs148254591 0.00010
NM_000834.5(GRIN2B):c.771C>T (p.Ile257=) rs142203984 0.00010
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_152309.3(PIK3AP1):c.2186G>A (p.Arg729His) rs569632623 0.00010
NC_000023.11:g.18650425G>C rs1418563117 0.00009
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_000834.5(GRIN2B):c.2808G>A (p.Glu936=) rs77493389 0.00009
NM_000834.5(GRIN2B):c.3957G>A (p.Pro1319=) rs141730031 0.00009
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=) rs112265127 0.00009
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 0.00009
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901 0.00009
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met) rs754362594 0.00009
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_001323289.2(CDKL5):c.554+10C>T rs755385076 0.00009
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile) rs201662175 0.00009
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748 0.00008
NM_000834.5(GRIN2B):c.3493G>A (p.Asp1165Asn) rs769857006 0.00008
NM_000834.5(GRIN2B):c.513C>T (p.Ile171=) rs3026183 0.00008
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.237+10A>G rs746224717 0.00008
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395 0.00008
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala) rs756560952 0.00008
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=) rs150801649 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=) rs267608490 0.00008
NM_152309.3(PIK3AP1):c.1339A>G (p.Met447Val) rs199952187 0.00008
NM_152309.3(PIK3AP1):c.405A>G (p.Ala135=) rs376969413 0.00008
NM_152309.3(PIK3AP1):c.633G>A (p.Glu211=) rs372013145 0.00008
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00007
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_000834.5(GRIN2B):c.1023T>C (p.Asn341=) rs201228929 0.00007
NM_000834.5(GRIN2B):c.1035G>A (p.Glu345=) rs146812769 0.00007
NM_000834.5(GRIN2B):c.1221C>T (p.Ser407=) rs145080218 0.00007
NM_000834.5(GRIN2B):c.1275G>A (p.Leu425=) rs950679024 0.00007
NM_000834.5(GRIN2B):c.2172-4A>G rs367915298 0.00007
NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=) rs199710029 0.00007
NM_000834.5(GRIN2B):c.957C>T (p.Ser319=) rs201565323 0.00007
NM_000834.5(GRIN2B):c.99C>A (p.Pro33=) rs77738206 0.00007
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283 0.00007
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00007
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001323289.2(CDKL5):c.1233C>T (p.Ala411=) rs907733307 0.00007
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849 0.00007
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154 0.00007
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=) rs770193102 0.00007
NM_003159.3(CDKL5):c.2797+16C>T rs778757202 0.00007
NM_152309.3(PIK3AP1):c.1077A>G (p.Pro359=) rs751495080 0.00007
NM_152309.3(PIK3AP1):c.112C>T (p.Arg38Cys) rs369732062 0.00007
NM_152309.3(PIK3AP1):c.2242-3T>C rs374054197 0.00007
NC_000023.11:g.18646008C>T rs201714912 0.00006
NM_000834.5(GRIN2B):c.1080G>A (p.Pro360=) rs201952040 0.00006
NM_000834.5(GRIN2B):c.1126-10C>T rs374302782 0.00006
NM_000834.5(GRIN2B):c.1501-14C>T rs191974209 0.00006
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr) rs145021339 0.00006
NM_000834.5(GRIN2B):c.2001C>T (p.Ser667=) rs200392452 0.00006
NM_000834.5(GRIN2B):c.2017A>C (p.Arg673=) rs149279923 0.00006
NM_000834.5(GRIN2B):c.270T>C (p.Ser90=) rs540429850 0.00006
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968 0.00006
NM_000834.5(GRIN2B):c.3797C>T (p.Pro1266Leu) rs201947553 0.00006
NM_000834.5(GRIN2B):c.3818C>A (p.Thr1273Lys) rs531747728 0.00006
NM_000834.5(GRIN2B):c.4270C>T (p.Leu1424Phe) rs748128078 0.00006
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln) rs149367932 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr) rs145054594 0.00006
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843 0.00006
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744 0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 0.00006
NM_001323289.2(CDKL5):c.603T>C (p.Leu201=) rs763478005 0.00006
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg) rs1481627825 0.00006
NM_003159.3(CDKL5):c.2909G>A (p.Arg970Gln) rs570887192 0.00006
NM_003159.3(CDKL5):c.3004G>A (p.Val1002Ile) rs987192406 0.00006
NM_152309.3(PIK3AP1):c.113G>T (p.Arg38Leu) rs770855063 0.00006
NM_152309.3(PIK3AP1):c.1460A>C (p.Lys487Thr) rs772197733 0.00006
NM_152309.3(PIK3AP1):c.1514A>G (p.His505Arg) rs367935657 0.00006
NM_152309.3(PIK3AP1):c.1693C>T (p.Arg565Trp) rs534613715 0.00006
NM_152309.3(PIK3AP1):c.1744G>A (p.Val582Ile) rs201358424 0.00006
NM_152309.3(PIK3AP1):c.2065G>A (p.Val689Met) rs371865710 0.00006
NM_152309.3(PIK3AP1):c.2238C>T (p.Asn746=) rs148107187 0.00006
NM_152309.3(PIK3AP1):c.60C>T (p.Ala20=) rs201085961 0.00006
NM_152309.3(PIK3AP1):c.730G>A (p.Val244Ile) rs761647957 0.00006
NM_152309.3(PIK3AP1):c.775G>A (p.Val259Ile) rs374586750 0.00006
NM_000330.4(RS1):c.184+3143G>T rs757994307 0.00005
NM_000330.4(RS1):c.326+1115G>A rs951430019 0.00005
NM_000834.5(GRIN2B):c.1500+7G>A rs201094275 0.00005
NM_000834.5(GRIN2B):c.1780+19G>A rs201169461 0.00005
NM_000834.5(GRIN2B):c.1875G>C (p.Gly625=) rs201095094 0.00005
NM_000834.5(GRIN2B):c.2359+16G>A rs781365670 0.00005
NM_000834.5(GRIN2B):c.3174C>T (p.Ser1058=) rs772364390 0.00005
NM_000834.5(GRIN2B):c.3343C>G (p.Arg1115Gly) rs370908319 0.00005
NM_000834.5(GRIN2B):c.3473G>A (p.Arg1158Gln) rs143955920 0.00005
NM_000834.5(GRIN2B):c.412-20T>C rs779719544 0.00005
NM_000834.5(GRIN2B):c.514G>A (p.Val172Ile) rs201377003 0.00005
NM_000834.5(GRIN2B):c.975C>T (p.His325=) rs200380868 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514 0.00005
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=) rs763156575 0.00005
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912 0.00005
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.283-14T>C rs776132140 0.00005
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755 0.00005
NM_001323289.2(CDKL5):c.64+19G>A rs776988929 0.00005
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057 0.00005
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286 0.00005
NM_006279.5(ST3GAL3):c.502G>A (p.Val168Ile) rs758155830 0.00005
NM_152309.3(PIK3AP1):c.1098C>T (p.Ser366=) rs370396990 0.00005
NM_152309.3(PIK3AP1):c.1137T>C (p.Ala379=) rs762383625 0.00005
NM_152309.3(PIK3AP1):c.2273G>A (p.Arg758His) rs765634361 0.00005
NM_152309.3(PIK3AP1):c.664A>T (p.Met222Leu) rs774215325 0.00005
NM_152309.3(PIK3AP1):c.712+18A>G rs375742773 0.00005
NM_152309.3(PIK3AP1):c.936C>T (p.Ser312=) rs763294320 0.00005
NC_000023.11:g.18646040A>G rs774743991 0.00004
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000834.5(GRIN2B):c.170A>T (p.Asp57Val) rs1019298480 0.00004
NM_000834.5(GRIN2B):c.1767C>T (p.Leu589=) rs763286576 0.00004
NM_000834.5(GRIN2B):c.1780+18C>T rs776489041 0.00004
NM_000834.5(GRIN2B):c.2145T>C (p.Asp715=) rs368555085 0.00004
NM_000834.5(GRIN2B):c.2247G>A (p.Val749=) rs757990373 0.00004
NM_000834.5(GRIN2B):c.2648T>C (p.Val883Ala) rs770464893 0.00004
NM_000834.5(GRIN2B):c.2661C>A (p.Pro887=) rs201157664 0.00004
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln) rs201966022 0.00004
NM_000834.5(GRIN2B):c.2826G>A (p.Thr942=) rs140573925 0.00004
NM_000834.5(GRIN2B):c.282C>A (p.Ile94=) rs147132902 0.00004
NM_000834.5(GRIN2B):c.2910C>T (p.Phe970=) rs201252525 0.00004
NM_000834.5(GRIN2B):c.3000C>T (p.Ile1000=) rs772837930 0.00004
NM_000834.5(GRIN2B):c.3714G>T (p.Ala1238=) rs760725802 0.00004
NM_000834.5(GRIN2B):c.3812C>T (p.Ala1271Val) rs372379846 0.00004
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225 0.00004
NM_000834.5(GRIN2B):c.4041C>A (p.Ser1347Arg) rs769147604 0.00004
NM_000834.5(GRIN2B):c.4179C>T (p.Asp1393=) rs199529615 0.00004
NM_000834.5(GRIN2B):c.4194C>T (p.Leu1398=) rs201247892 0.00004
NM_000834.5(GRIN2B):c.61G>A (p.Val21Met) rs79046967 0.00004
NM_000834.5(GRIN2B):c.630C>T (p.Asp210=) rs202115787 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597 0.00004
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701 0.00004
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538 0.00004
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492 0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 0.00004
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590 0.00004
NM_001323289.2(CDKL5):c.1122T>A (p.Ala374=) rs141452495 0.00004
NM_001323289.2(CDKL5):c.145+6T>G rs753819165 0.00004
NM_001323289.2(CDKL5):c.145+8T>G rs757030306 0.00004
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) rs372629988 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001323289.2(CDKL5):c.2567A>T (p.Asp856Val) rs770426025 0.00004
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_152309.3(PIK3AP1):c.1191G>A (p.Thr397=) rs753965309 0.00004
NM_152309.3(PIK3AP1):c.13+20G>A rs1294985030 0.00004
NM_152309.3(PIK3AP1):c.1621G>A (p.Ala541Thr) rs367613610 0.00004
NM_152309.3(PIK3AP1):c.1710C>T (p.Tyr570=) rs754985674 0.00004
NM_152309.3(PIK3AP1):c.1730G>C (p.Arg577Thr) rs199933936 0.00004
NM_152309.3(PIK3AP1):c.1743C>T (p.Pro581=) rs150030424 0.00004
NM_152309.3(PIK3AP1):c.1863C>T (p.Asn621=) rs775513848 0.00004
NM_152309.3(PIK3AP1):c.1881C>G (p.Leu627=) rs753071212 0.00004
NM_152309.3(PIK3AP1):c.31G>A (p.Asp11Asn) rs138344015 0.00004
NM_152309.3(PIK3AP1):c.567+10G>C rs367980584 0.00004
NM_152309.3(PIK3AP1):c.568-15G>A rs575594175 0.00004
NC_000023.11:g.18653424C>A rs1247449149 0.00003
NC_000023.11:g.18653448G>A rs763292733 0.00003
NM_000834.5(GRIN2B):c.1125+5G>A rs3751257 0.00003
NM_000834.5(GRIN2B):c.1125G>A (p.Arg375=) rs200126922 0.00003
NM_000834.5(GRIN2B):c.1316G>A (p.Arg439His) rs752720799 0.00003
NM_000834.5(GRIN2B):c.1350G>A (p.Pro450=) rs200607718 0.00003
NM_000834.5(GRIN2B):c.144G>A (p.Val48=) rs201242152 0.00003
NM_000834.5(GRIN2B):c.1501-13G>A rs201829637 0.00003
NM_000834.5(GRIN2B):c.2313G>A (p.Gly771=) rs150554184 0.00003
NM_000834.5(GRIN2B):c.251G>A (p.Arg84His) rs778695605 0.00003
NM_000834.5(GRIN2B):c.2644T>G (p.Ser882Ala) rs145602964 0.00003
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000834.5(GRIN2B):c.2861G>A (p.Cys954Tyr) rs376328340 0.00003
NM_000834.5(GRIN2B):c.3300G>A (p.Arg1100=) rs200509787 0.00003
NM_000834.5(GRIN2B):c.3433C>T (p.His1145Tyr) rs758094582 0.00003
NM_000834.5(GRIN2B):c.3505G>A (p.Gly1169Arg) rs777639067 0.00003
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200 0.00003
NM_000834.5(GRIN2B):c.3922G>A (p.Val1308Met) rs374746622 0.00003
NM_000834.5(GRIN2B):c.3945C>T (p.Ala1315=) rs200657400 0.00003
NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=) rs375217280 0.00003
NM_000834.5(GRIN2B):c.4107C>T (p.Gly1369=) rs201732760 0.00003
NM_000834.5(GRIN2B):c.4321C>T (p.Arg1441Cys) rs773648473 0.00003
NM_000834.5(GRIN2B):c.51C>T (p.Ala17=) rs145404836 0.00003
NM_000834.5(GRIN2B):c.80G>A (p.Arg27His) rs200727145 0.00003
NM_000834.5(GRIN2B):c.834C>A (p.Ile278=) rs199835162 0.00003
NM_000834.5(GRIN2B):c.96C>A (p.Pro32=) rs374173060 0.00003
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761 0.00003
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 0.00003
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys) rs779838514 0.00003
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met) rs372062686 0.00003
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160 0.00003
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=) rs749768274 0.00003
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr) rs776648566 0.00003
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val) rs780622472 0.00003
NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=) rs549528366 0.00003
NM_001130438.3(SPTAN1):c.6959+6C>T rs542848685 0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841 0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001323289.2(CDKL5):c.1027A>G (p.Ser343Gly) rs371313385 0.00003
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=) rs144204039 0.00003
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312 0.00003
NM_001323289.2(CDKL5):c.1614G>A (p.Thr538=) rs147300538 0.00003
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712 0.00003
NM_001323289.2(CDKL5):c.2046+9C>T rs1215810014 0.00003
NM_001323289.2(CDKL5):c.2067A>G (p.Pro689=) rs774307489 0.00003
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046 0.00003
NM_001323289.2(CDKL5):c.2497-17C>T rs780795025 0.00003
NM_001323289.2(CDKL5):c.249A>G (p.Gly83=) rs764954859 0.00003
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982 0.00003
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NM_001323289.2(CDKL5):c.554+19A>G rs911879541 0.00003
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr) rs1161142799 0.00003
NM_001323289.2(CDKL5):c.909G>A (p.Leu303=) rs1159901195 0.00003
NM_003159.3(CDKL5):c.3008T>C (p.Met1003Thr) rs587783162 0.00003
NM_152309.3(PIK3AP1):c.13+3G>A rs996067839 0.00003
NM_152309.3(PIK3AP1):c.2014+17G>C rs752466455 0.00003
NM_152309.3(PIK3AP1):c.2015-6T>A rs775761112 0.00003
NM_152309.3(PIK3AP1):c.227T>G (p.Val76Gly) rs770097737 0.00003
NM_152309.3(PIK3AP1):c.2387C>G (p.Pro796Arg) rs746172807 0.00003
NM_152309.3(PIK3AP1):c.554G>A (p.Arg185His) rs1364487885 0.00003
NM_152309.3(PIK3AP1):c.620C>T (p.Ala207Val) rs201029174 0.00003
NM_152309.3(PIK3AP1):c.900G>C (p.Leu300=) rs370579298 0.00003
NC_000023.11:g.18646061G>A rs1487927674 0.00002
NC_000023.11:g.18650483A>G rs765535216 0.00002
NC_000023.11:g.18653493C>A rs587783163 0.00002
NC_000023.11:g.18653501C>T rs745370971 0.00002
NC_000023.11:g.18653502G>A rs910286513 0.00002
NM_000330.4(RS1):c.184+3119G>A rs762576315 0.00002
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00002
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000330.4(RS1):c.185-3207G>A rs587783161 0.00002
NM_000834.5(GRIN2B):c.1020C>T (p.Ile340=) rs778209882 0.00002
NM_000834.5(GRIN2B):c.162C>T (p.His54=) rs200767968 0.00002
NM_000834.5(GRIN2B):c.1781-4C>A rs371286528 0.00002
NM_000834.5(GRIN2B):c.1833T>C (p.Gly611=) rs367543148 0.00002
NM_000834.5(GRIN2B):c.1881C>T (p.Thr627=) rs768296067 0.00002
NM_000834.5(GRIN2B):c.1923C>A (p.Ile641=) rs767875110 0.00002
NM_000834.5(GRIN2B):c.2055C>T (p.Thr685=) rs375843467 0.00002
NM_000834.5(GRIN2B):c.2172-9C>G rs1555103671 0.00002
NM_000834.5(GRIN2B):c.2359+16G>C rs781365670 0.00002
NM_000834.5(GRIN2B):c.2442C>T (p.Asp814=) rs772903335 0.00002
NM_000834.5(GRIN2B):c.2649A>T (p.Val883=) rs535415512 0.00002
NM_000834.5(GRIN2B):c.2757G>A (p.Gln919=) rs750801474 0.00002
NM_000834.5(GRIN2B):c.3012C>T (p.Tyr1004=) rs201439880 0.00002
NM_000834.5(GRIN2B):c.3156C>T (p.His1052=) rs543452359 0.00002
NM_000834.5(GRIN2B):c.3159C>T (p.Asp1053=) rs776986575 0.00002
NM_000834.5(GRIN2B):c.3189C>T (p.Ile1063=) rs1048069070 0.00002
NM_000834.5(GRIN2B):c.3285G>A (p.Ser1095=) rs200058641 0.00002
NM_000834.5(GRIN2B):c.3338C>T (p.Pro1113Leu) rs766946947 0.00002
NM_000834.5(GRIN2B):c.3499G>A (p.Val1167Ile) rs1042339 0.00002
NM_000834.5(GRIN2B):c.3504C>T (p.Ser1168=) rs183502070 0.00002
NM_000834.5(GRIN2B):c.3514C>T (p.Pro1172Ser) rs757924519 0.00002
NM_000834.5(GRIN2B):c.3647G>A (p.Arg1216His) rs757636470 0.00002
NM_000834.5(GRIN2B):c.3690G>A (p.Thr1230=) rs200609066 0.00002
NM_000834.5(GRIN2B):c.3702G>C (p.Ser1234=) rs753797364 0.00002
NM_000834.5(GRIN2B):c.3884G>A (p.Arg1295Gln) rs1284336148 0.00002
NM_000834.5(GRIN2B):c.3946G>A (p.Ala1316Thr) rs199803550 0.00002
NM_000834.5(GRIN2B):c.3964G>A (p.Val1322Ile) rs200255226 0.00002
NM_000834.5(GRIN2B):c.4008C>T (p.Tyr1336=) rs764080484 0.00002
NM_000834.5(GRIN2B):c.4015A>C (p.Met1339Leu) rs200604023 0.00002
NM_000834.5(GRIN2B):c.4017G>A (p.Met1339Ile) rs752473485 0.00002
NM_000834.5(GRIN2B):c.4066G>A (p.Val1356Met) rs796052579 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_000834.5(GRIN2B):c.4241C>T (p.Ala1414Val) rs751107971 0.00002
NM_000834.5(GRIN2B):c.4410T>C (p.Asn1470=) rs199819153 0.00002
NM_000834.5(GRIN2B):c.4434T>C (p.Ser1478=) rs1462553586 0.00002
NM_000834.5(GRIN2B):c.52G>A (p.Val18Ile) rs201094029 0.00002
NM_000834.5(GRIN2B):c.598G>C (p.Glu200Gln) rs1196117849 0.00002
NM_000834.5(GRIN2B):c.732C>G (p.Ala244=) rs201554036 0.00002
NM_000834.5(GRIN2B):c.75A>C (p.Arg25Ser) rs948741015 0.00002
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu) rs780303413 0.00002
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=) rs777441722 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln) rs1176851202 0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00002
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288 0.00002
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426 0.00002
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=) rs775886527 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val) rs767399516 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683 0.00002
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652 0.00002
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys) rs1336849921 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1080C>T (p.Leu360=) rs911838999 0.00002
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786 0.00002
NM_001323289.2(CDKL5):c.1396C>T (p.Arg466Trp) rs1310879766 0.00002
NM_001323289.2(CDKL5):c.145+12T>G rs1394726020 0.00002
NM_001323289.2(CDKL5):c.1476G>A (p.Leu492=) rs1458249124 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.1673G>A (p.Arg558His) rs763991639 0.00002
NM_001323289.2(CDKL5):c.1701G>A (p.Thr567=) rs751738489 0.00002
NM_001323289.2(CDKL5):c.1711T>C (p.Leu571=) rs755177112 0.00002
NM_001323289.2(CDKL5):c.1910C>G (p.Ala637Gly) rs750727784 0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.1968G>A (p.Glu656=) rs1451908414 0.00002
NM_001323289.2(CDKL5):c.2152+15G>A rs1441325648 0.00002
NM_001323289.2(CDKL5):c.238C>T (p.Arg80Cys) rs1466254546 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys) rs780609419 0.00002
NM_001323289.2(CDKL5):c.2487G>A (p.Leu829=) rs1467875005 0.00002
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558 0.00002
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177 0.00002
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466 0.00002
NM_001323289.2(CDKL5):c.2581C>T (p.Pro861Ser) rs1430214724 0.00002
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp) rs1475195158 0.00002
NM_001323289.2(CDKL5):c.844C>G (p.Pro282Ala) rs1926077779 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_003159.3(CDKL5):c.2867G>A (p.Arg956His) rs376557374 0.00002
NM_006279.5(ST3GAL3):c.166+1G>A rs148531289 0.00002
NM_021927.3(GUF1):c.809T>C (p.Ile270Thr) rs754081165 0.00002
NM_152309.3(PIK3AP1):c.1083C>T (p.Ala361=) rs766566195 0.00002
NM_152309.3(PIK3AP1):c.1146C>T (p.His382=) rs769390249 0.00002
NM_152309.3(PIK3AP1):c.1320C>T (p.Asp440=) rs371244901 0.00002
NM_152309.3(PIK3AP1):c.1471+9T>C rs779450561 0.00002
NM_152309.3(PIK3AP1):c.1499A>G (p.Glu500Gly) rs185079778 0.00002
NM_152309.3(PIK3AP1):c.1650C>T (p.Asn550=) rs749043096 0.00002
NM_152309.3(PIK3AP1):c.1664T>C (p.Phe555Ser) rs781326320 0.00002
NM_152309.3(PIK3AP1):c.1739C>T (p.Pro580Leu) rs778955496 0.00002
NM_152309.3(PIK3AP1):c.1941+5C>A rs745868556 0.00002
NM_152309.3(PIK3AP1):c.2197C>T (p.Arg733Trp) rs753785564 0.00002
NM_152309.3(PIK3AP1):c.2343G>A (p.Pro781=) rs539458415 0.00002
NM_152309.3(PIK3AP1):c.2366C>T (p.Pro789Leu) rs1261866966 0.00002
NM_152309.3(PIK3AP1):c.257C>T (p.Pro86Leu) rs374337467 0.00002
NM_152309.3(PIK3AP1):c.280C>T (p.Pro94Ser) rs1469971703 0.00002
NM_152309.3(PIK3AP1):c.645G>A (p.Glu215=) rs752098964 0.00002
NM_152309.3(PIK3AP1):c.800A>G (p.Glu267Gly) rs200224557 0.00002
NM_152309.3(PIK3AP1):c.915G>A (p.Leu305=) rs760573991 0.00002
NC_000023.11:g.18646001A>G rs371658418 0.00001
NC_000023.11:g.18646009G>A rs369009993 0.00001
NC_000023.11:g.18646031A>G rs773644857 0.00001
NC_000023.11:g.18650453G>A rs368344738 0.00001
NC_000023.11:g.18650554G>A rs760568446 0.00001
NC_000023.11:g.18653480G>A rs1018524335 0.00001
NC_000023.11:g.18653525C>A rs768289707 0.00001
NC_000023.11:g.18653529A>G rs776601149 0.00001
NM_000330.4(RS1):c.184+3170G>A rs764540699 0.00001
NM_000330.4(RS1):c.185-3137C>A rs767312604 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000834.5(GRIN2B):c.1010+3G>A rs771246986 0.00001
NM_000834.5(GRIN2B):c.1011-5T>A rs922830141 0.00001
NM_000834.5(GRIN2B):c.1011G>A (p.Arg337=) rs201867439 0.00001
NM_000834.5(GRIN2B):c.1125+19A>C rs181390006 0.00001
NM_000834.5(GRIN2B):c.1125+9T>C rs764590430 0.00001
NM_000834.5(GRIN2B):c.1287C>T (p.Cys429=) rs747172511 0.00001
NM_000834.5(GRIN2B):c.1302C>T (p.Val434=) rs758148425 0.00001
NM_000834.5(GRIN2B):c.1318A>G (p.Ile440Val) rs765062440 0.00001
NM_000834.5(GRIN2B):c.136G>A (p.Asp46Asn) rs370809599 0.00001
NM_000834.5(GRIN2B):c.1377G>T (p.Gly459=) rs779734725 0.00001
NM_000834.5(GRIN2B):c.138C>T (p.Asp46=) rs200527066 0.00001
NM_000834.5(GRIN2B):c.1440G>A (p.Leu480=) rs1356222326 0.00001
NM_000834.5(GRIN2B):c.14C>T (p.Ala5Val) rs367543147 0.00001
NM_000834.5(GRIN2B):c.1501-19C>T rs377609698 0.00001
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_000834.5(GRIN2B):c.1559C>T (p.Ser520Leu) rs1211941493 0.00001
NM_000834.5(GRIN2B):c.1560G>A (p.Ser520=) rs566776310 0.00001
NM_000834.5(GRIN2B):c.1566G>A (p.Val522=) rs1019962975 0.00001
NM_000834.5(GRIN2B):c.1654+10G>A rs201242368 0.00001
NM_000834.5(GRIN2B):c.1655-5C>T rs148132876 0.00001
NM_000834.5(GRIN2B):c.1671C>T (p.Asp557=) rs187488896 0.00001
NM_000834.5(GRIN2B):c.185T>C (p.Leu62Pro) rs769987851 0.00001
NM_000834.5(GRIN2B):c.1938C>T (p.Tyr646=) rs1275673366 0.00001
NM_000834.5(GRIN2B):c.2011-8C>G rs774971411 0.00001
NM_000834.5(GRIN2B):c.2011-8C>T rs774971411 0.00001
NM_000834.5(GRIN2B):c.2103A>G (p.Glu701=) rs1428419292 0.00001
NM_000834.5(GRIN2B):c.2172-19T>G rs1393183189 0.00001
NM_000834.5(GRIN2B):c.2172-8C>T rs751592819 0.00001
NM_000834.5(GRIN2B):c.21C>T (p.Cys7=) rs751673148 0.00001
NM_000834.5(GRIN2B):c.2250C>G (p.Thr750=) rs752150199 0.00001
NM_000834.5(GRIN2B):c.2259T>C (p.Ser753=) rs1165739612 0.00001
NM_000834.5(GRIN2B):c.2325G>C (p.Gln775His) rs774981179 0.00001
NM_000834.5(GRIN2B):c.241A>G (p.Ile81Val) rs200262227 0.00001
NM_000834.5(GRIN2B):c.2497C>G (p.Leu833Val) rs1439435536 0.00001
NM_000834.5(GRIN2B):c.250C>T (p.Arg84Cys) rs1260965687 0.00001
NM_000834.5(GRIN2B):c.2530T>C (p.Trp844Arg) rs138088984 0.00001
NM_000834.5(GRIN2B):c.2540G>A (p.Arg847Gln) rs1591608943 0.00001
NM_000834.5(GRIN2B):c.2561G>T (p.Cys854Phe) rs758762096 0.00001
NM_000834.5(GRIN2B):c.2598+11T>C rs774497797 0.00001
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_000834.5(GRIN2B):c.2631C>T (p.Ile877=) rs1156368940 0.00001
NM_000834.5(GRIN2B):c.2637G>A (p.Glu879=) rs200754384 0.00001
NM_000834.5(GRIN2B):c.2700C>A (p.Arg900=) rs531269037 0.00001
NM_000834.5(GRIN2B):c.2715C>T (p.Ala905=) rs568858172 0.00001
NM_000834.5(GRIN2B):c.2730C>T (p.Asn910=) rs777288719 0.00001
NM_000834.5(GRIN2B):c.2740G>A (p.Val914Met) rs1039043750 0.00001
NM_000834.5(GRIN2B):c.274C>T (p.Arg92Trp) rs1436757161 0.00001
NM_000834.5(GRIN2B):c.2754G>A (p.Pro918=) rs756487785 0.00001
NM_000834.5(GRIN2B):c.2759G>A (p.Ser920Asn) rs781442804 0.00001
NM_000834.5(GRIN2B):c.2760C>T (p.Ser920=) rs149157688 0.00001
NM_000834.5(GRIN2B):c.2790C>G (p.Ser930=) rs201085200 0.00001
NM_000834.5(GRIN2B):c.2823C>T (p.Phe941=) rs369299730 0.00001
NM_000834.5(GRIN2B):c.2825C>T (p.Thr942Met) rs200724001 0.00001
NM_000834.5(GRIN2B):c.2847C>T (p.Tyr949=) rs771565713 0.00001
NM_000834.5(GRIN2B):c.2855C>T (p.Pro952Leu) rs747714077 0.00001
NM_000834.5(GRIN2B):c.286G>C (p.Gly96Arg) rs1865819395 0.00001
NM_000834.5(GRIN2B):c.2898A>G (p.Val966=) rs1265201296 0.00001
NM_000834.5(GRIN2B):c.2913G>A (p.Gly971=) rs200696950 0.00001
NM_000834.5(GRIN2B):c.2936A>T (p.Asn979Ile) rs796052574 0.00001
NM_000834.5(GRIN2B):c.2937C>T (p.Asn979=) rs747235156 0.00001
NM_000834.5(GRIN2B):c.2938G>A (p.Val980Met) rs778202551 0.00001
NM_000834.5(GRIN2B):c.294G>A (p.Val98=) rs774096413 0.00001
NM_000834.5(GRIN2B):c.2969G>A (p.Arg990Gln) rs1458162832 0.00001
NM_000834.5(GRIN2B):c.2991C>A (p.Ala997=) rs766092483 0.00001
NM_000834.5(GRIN2B):c.3004G>C (p.Gly1002Arg) rs761281000 0.00001
NM_000834.5(GRIN2B):c.3033C>T (p.Phe1011=) rs200355836 0.00001
NM_000834.5(GRIN2B):c.3049T>G (p.Ser1017Ala) rs1948601205 0.00001
NM_000834.5(GRIN2B):c.3056G>T (p.Ser1019Ile) rs200265732 0.00001
NM_000834.5(GRIN2B):c.3081C>A (p.Leu1027=) rs200887288 0.00001
NM_000834.5(GRIN2B):c.3099C>G (p.Ser1033Arg) rs796052575 0.00001
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu) rs754878801 0.00001
NM_000834.5(GRIN2B):c.3118G>A (p.Gly1040Ser) rs202222002 0.00001
NM_000834.5(GRIN2B):c.3126C>T (p.Phe1042=) rs767114392 0.00001
NM_000834.5(GRIN2B):c.3148A>G (p.Ser1050Gly) rs1157190922 0.00001
NM_000834.5(GRIN2B):c.3169C>T (p.Arg1057Cys) rs761084398 0.00001
NM_000834.5(GRIN2B):c.3170G>A (p.Arg1057His) rs773737239 0.00001
NM_000834.5(GRIN2B):c.3180C>T (p.Val1060=) rs142071596 0.00001
NM_000834.5(GRIN2B):c.3202G>A (p.Val1068Ile) rs749434579 0.00001
NM_000834.5(GRIN2B):c.3234C>G (p.Ala1078=) rs1208973440 0.00001
NM_000834.5(GRIN2B):c.3344G>T (p.Arg1115Leu) rs199514711 0.00001
NM_000834.5(GRIN2B):c.3365A>C (p.Tyr1122Ser) rs749285212 0.00001
NM_000834.5(GRIN2B):c.33G>A (p.Lys11=) rs199904091 0.00001
NM_000834.5(GRIN2B):c.3402G>A (p.Leu1134=) rs1227988479 0.00001
NM_000834.5(GRIN2B):c.3475A>G (p.Ser1159Gly) rs762050994 0.00001
NM_000834.5(GRIN2B):c.3492C>T (p.Arg1164=) rs775478008 0.00001
NM_000834.5(GRIN2B):c.3546G>C (p.Gly1182=) rs200166566 0.00001
NM_000834.5(GRIN2B):c.3562G>A (p.Gly1188Ser) rs367543149 0.00001
NM_000834.5(GRIN2B):c.3573C>T (p.Ser1191=) rs1360698391 0.00001
NM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=) rs200884387 0.00001
NM_000834.5(GRIN2B):c.360C>T (p.Leu120=) rs377642005 0.00001
NM_000834.5(GRIN2B):c.3621G>A (p.Glu1207=) rs200551241 0.00001
NM_000834.5(GRIN2B):c.3626G>A (p.Arg1209Gln) rs748005909 0.00001
NM_000834.5(GRIN2B):c.3652T>A (p.Cys1218Ser) rs1948583113 0.00001
NM_000834.5(GRIN2B):c.3660C>G (p.Ser1220=) rs201983807 0.00001
NM_000834.5(GRIN2B):c.3681G>A (p.Thr1227=) rs758736358 0.00001
NM_000834.5(GRIN2B):c.3683C>T (p.Thr1228Met) rs75670883 0.00001
NM_000834.5(GRIN2B):c.3685G>A (p.Val1229Met) rs1948582128 0.00001
NM_000834.5(GRIN2B):c.370C>T (p.Leu124=) rs780865592 0.00001
NM_000834.5(GRIN2B):c.3780G>C (p.Leu1260=) rs753005699 0.00001
NM_000834.5(GRIN2B):c.3798G>A (p.Pro1266=) rs754079938 0.00001
NM_000834.5(GRIN2B):c.3805C>T (p.Pro1269Ser) rs1458120181 0.00001
NM_000834.5(GRIN2B):c.381C>T (p.His127=) rs200608452 0.00001
NM_000834.5(GRIN2B):c.3835A>T (p.Thr1279Ser) rs372152403 0.00001
NM_000834.5(GRIN2B):c.3838A>G (p.Lys1280Glu) rs772502958 0.00001
NM_000834.5(GRIN2B):c.3855G>A (p.Pro1285=) rs368885091 0.00001
NM_000834.5(GRIN2B):c.3895C>T (p.Arg1299Cys) rs45540034 0.00001
NM_000834.5(GRIN2B):c.3906C>T (p.His1302=) rs764172372 0.00001
NM_000834.5(GRIN2B):c.3964G>C (p.Val1322Leu) rs200255226 0.00001
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483 0.00001
NM_000834.5(GRIN2B):c.4014C>T (p.His1338=) rs758288071 0.00001
NM_000834.5(GRIN2B):c.4035C>T (p.Gly1345=) rs776247380 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000834.5(GRIN2B):c.4086C>T (p.His1362=) rs1411303131 0.00001
NM_000834.5(GRIN2B):c.4089C>T (p.His1363=) rs1411268559 0.00001
NM_000834.5(GRIN2B):c.4092C>T (p.His1364=) rs771307465 0.00001
NM_000834.5(GRIN2B):c.4093A>C (p.Asn1365His) rs1330186615 0.00001
NM_000834.5(GRIN2B):c.4102G>A (p.Gly1368Ser) rs1043559346 0.00001
NM_000834.5(GRIN2B):c.4108G>A (p.Gly1370Arg) rs754738111 0.00001
NM_000834.5(GRIN2B):c.411+9G>A rs199984775 0.00001
NM_000834.5(GRIN2B):c.4112A>G (p.Tyr1371Cys) rs755797497 0.00001
NM_000834.5(GRIN2B):c.412-14T>C rs879254251 0.00001
NM_000834.5(GRIN2B):c.4128G>A (p.Ser1376=) rs749867196 0.00001
NM_000834.5(GRIN2B):c.4142G>A (p.Arg1381Gln) rs761443441 0.00001
NM_000834.5(GRIN2B):c.4148C>T (p.Thr1383Met) rs775838374 0.00001
NM_000834.5(GRIN2B):c.4149G>A (p.Thr1383=) rs201750358 0.00001
NM_000834.5(GRIN2B):c.4205A>G (p.Lys1402Arg) rs1349506481 0.00001
NM_000834.5(GRIN2B):c.4215C>T (p.Phe1405=) rs778677489 0.00001
NM_000834.5(GRIN2B):c.4229C>T (p.Thr1410Met) rs779830552 0.00001
NM_000834.5(GRIN2B):c.4235C>A (p.Ala1412Glu) rs1314346300 0.00001
NM_000834.5(GRIN2B):c.4242G>A (p.Ala1414=) rs202227485 0.00001
NM_000834.5(GRIN2B):c.4244C>T (p.Ser1415Leu) rs201463390 0.00001
NM_000834.5(GRIN2B):c.4245G>A (p.Ser1415=) rs150956675 0.00001
NM_000834.5(GRIN2B):c.4257G>A (p.Pro1419=) rs761174489 0.00001
NM_000834.5(GRIN2B):c.425T>C (p.Met142Thr) rs1184168879 0.00001
NM_000834.5(GRIN2B):c.4265G>A (p.Arg1422Gln) rs75269586 0.00001
NM_000834.5(GRIN2B):c.427T>C (p.Phe143Leu) rs756875824 0.00001
NM_000834.5(GRIN2B):c.4286C>T (p.Pro1429Leu) rs1261054497 0.00001
NM_000834.5(GRIN2B):c.4322G>A (p.Arg1441His) rs200903876 0.00001
NM_000834.5(GRIN2B):c.4330A>G (p.Lys1444Glu) rs768707460 0.00001
NM_000834.5(GRIN2B):c.4341T>C (p.Cys1447=) rs766970197 0.00001
NM_000834.5(GRIN2B):c.4355C>T (p.Ser1452Phe) rs756790727 0.00001
NM_000834.5(GRIN2B):c.4375A>G (p.Asn1459Asp) rs1384338205 0.00001
NM_000834.5(GRIN2B):c.4413G>A (p.Gly1471=) rs202051424 0.00001
NM_000834.5(GRIN2B):c.4429C>G (p.Leu1477Val) rs1388986519 0.00001
NM_000834.5(GRIN2B):c.510T>C (p.Ser170=) rs200442058 0.00001
NM_000834.5(GRIN2B):c.519C>G (p.Thr173=) rs200357530 0.00001
NM_000834.5(GRIN2B):c.568A>G (p.Ile190Val) rs1863531293 0.00001
NM_000834.5(GRIN2B):c.609C>T (p.Leu203=) rs746896701 0.00001
NM_000834.5(GRIN2B):c.60C>T (p.Ala20=) rs371566007 0.00001
NM_000834.5(GRIN2B):c.612A>G (p.Leu204=) rs1211007071 0.00001
NM_000834.5(GRIN2B):c.619A>G (p.Met207Val) rs747790101 0.00001
NM_000834.5(GRIN2B):c.625C>T (p.Leu209=) rs1591712558 0.00001
NM_000834.5(GRIN2B):c.631G>A (p.Asp211Asn) rs1295510907 0.00001
NM_000834.5(GRIN2B):c.679A>G (p.Ile227Val) rs201672517 0.00001
NM_000834.5(GRIN2B):c.717C>T (p.Tyr239=) rs759323084 0.00001
NM_000834.5(GRIN2B):c.765G>A (p.Thr255=) rs199844735 0.00001
NM_000834.5(GRIN2B):c.823A>G (p.Thr275Ala) rs1291904458 0.00001
NM_000834.5(GRIN2B):c.840A>G (p.Val280=) rs752814750 0.00001
NM_000834.5(GRIN2B):c.871G>A (p.Ala291Thr) rs1246772896 0.00001
NM_000834.5(GRIN2B):c.93C>T (p.Ser31=) rs781344452 0.00001
NM_000834.5(GRIN2B):c.991C>A (p.Gln331Lys) rs1290922060 0.00001
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser) rs748965398 0.00001
NM_000834.5(GRIN2B):c.9C>T (p.Pro3=) rs202219447 0.00001
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=) rs570171059 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315 0.00001
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser) rs773328719 0.00001
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His) rs201168391 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=) rs1057523726 0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His) rs146412583 0.00001
NM_001130438.3(SPTAN1):c.2394G>A (p.Thr798=) rs768271102 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg) rs899998696 0.00001
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys) rs776279771 0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501 0.00001
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys) rs587784436 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 0.00001
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro) rs781124530 0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632 0.00001
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981 0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys) rs773140619 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln) rs773288631 0.00001
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val) rs754419719 0.00001
NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=) rs1357221237 0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln) rs772382171 0.00001
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr) rs961696023 0.00001
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn) rs777407223 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706 0.00001
NM_001130438.3(SPTAN1):c.6763-7C>T rs587784439 0.00001
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His) rs201693154 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076 0.00001
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150 0.00001
NM_001323289.2(CDKL5):c.1066G>C (p.Ala356Pro) rs774594152 0.00001
NM_001323289.2(CDKL5):c.1076G>C (p.Gly359Ala) rs1207429249 0.00001
NM_001323289.2(CDKL5):c.1086C>T (p.Ala362=) rs761253221 0.00001
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser) rs755167459 0.00001
NM_001323289.2(CDKL5):c.1094G>A (p.Ser365Asn) rs1279388510 0.00001
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala) rs1187227979 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001323289.2(CDKL5):c.1230A>C (p.Glu410Asp) rs762247736 0.00001
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766 0.00001
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620 0.00001
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491 0.00001
NM_001323289.2(CDKL5):c.1337C>T (p.Ser446Leu) rs1926273872 0.00001
NM_001323289.2(CDKL5):c.1386A>C (p.Glu462Asp) rs748731763 0.00001
NM_001323289.2(CDKL5):c.1389G>A (p.Lys463=) rs773733498 0.00001
NM_001323289.2(CDKL5):c.1397G>A (p.Arg466Gln) rs748907380 0.00001
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=) rs773921712 0.00001
NM_001323289.2(CDKL5):c.1446C>T (p.Tyr482=) rs372655753 0.00001
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=) rs760623086 0.00001
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347 0.00001
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly) rs749639424 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 0.00001
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg) rs587783153 0.00001
NM_001323289.2(CDKL5):c.1649G>A (p.Arg550Gln) rs745508309 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400 0.00001
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076 0.00001
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302 0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866 0.00001
NM_001323289.2(CDKL5):c.1752A>G (p.Ser584=) rs1282721902 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009 0.00001
NM_001323289.2(CDKL5):c.1786C>T (p.Leu596=) rs776627003 0.00001
NM_001323289.2(CDKL5):c.1791C>T (p.Gly597=) rs1238731278 0.00001
NM_001323289.2(CDKL5):c.1821T>G (p.Arg607=) rs1352220667 0.00001
NM_001323289.2(CDKL5):c.1827T>C (p.His609=) rs764272402 0.00001
NM_001323289.2(CDKL5):c.1909G>C (p.Ala637Pro) rs1330464637 0.00001
NM_001323289.2(CDKL5):c.2014A>T (p.Thr672Ser) rs1926449880 0.00001
NM_001323289.2(CDKL5):c.2031A>G (p.Thr677=) rs1416458696 0.00001
NM_001323289.2(CDKL5):c.2046+16A>G rs1157430431 0.00001
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205 0.00001
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2152+14C>T rs766682793 0.00001
NM_001323289.2(CDKL5):c.2152+9A>C rs903712991 0.00001
NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met) rs888325600 0.00001
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769 0.00001
NM_001323289.2(CDKL5):c.2241C>T (p.Thr747=) rs753606345 0.00001
NM_001323289.2(CDKL5):c.2244C>T (p.Asn748=) rs963899526 0.00001
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser) rs1210870589 0.00001
NM_001323289.2(CDKL5):c.2277-7C>T rs1245961569 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001323289.2(CDKL5):c.2377G>A (p.Val793Ile) rs754699773 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile) rs1449425691 0.00001
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459 0.00001
NM_001323289.2(CDKL5):c.2496+14G>A rs1189045100 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2556G>A (p.Pro852=) rs748905018 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.2679C>G (p.Pro893=) rs777919249 0.00001
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955 0.00001
NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys) rs372825651 0.00001
NM_001323289.2(CDKL5):c.403+5G>A rs1342864362 0.00001
NM_001323289.2(CDKL5):c.404-9A>G rs1037467164 0.00001
NM_001323289.2(CDKL5):c.463+8A>G rs769244237 0.00001
NM_001323289.2(CDKL5):c.473G>A (p.Arg158His) rs757402424 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.555C>T (p.Gly185=) rs904580767 0.00001
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr) rs765304446 0.00001
NM_001323289.2(CDKL5):c.576G>A (p.Val192=) rs1461167746 0.00001
NM_001323289.2(CDKL5):c.65-13C>T rs532222548 0.00001
NM_001323289.2(CDKL5):c.65-4A>G rs777490768 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908 0.00001
NM_001323289.2(CDKL5):c.858C>T (p.Tyr286=) rs766511365 0.00001
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547 0.00001
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671 0.00001
NM_001323289.2(CDKL5):c.915T>C (p.Arg305=) rs1170498240 0.00001
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=) rs1348754333 0.00001
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=) rs370986597 0.00001
NM_001323289.2(CDKL5):c.967T>C (p.Leu323=) rs527360143 0.00001
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244 0.00001
NM_003159.3(CDKL5):c.2784G>A (p.Thr928=) rs369383134 0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter) rs1158418673 0.00001
NM_003159.3(CDKL5):c.2866C>T (p.Arg956Cys) rs1398393336 0.00001
NM_003159.3(CDKL5):c.2881C>G (p.Pro961Ala) rs1064794669 0.00001
NM_003159.3(CDKL5):c.2890T>C (p.Tyr964His) rs781435432 0.00001
NM_003159.3(CDKL5):c.2980+20C>T rs181859624 0.00001
NM_006279.5(ST3GAL3):c.303-9A>G rs762536905 0.00001
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln) rs780826701 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser) rs879255631 0.00001
NM_152309.3(PIK3AP1):c.1014C>A (p.Thr338=) rs374819025 0.00001
NM_152309.3(PIK3AP1):c.1111C>A (p.His371Asn) rs764406248 0.00001
NM_152309.3(PIK3AP1):c.1162C>A (p.Arg388=) rs1291249415 0.00001
NM_152309.3(PIK3AP1):c.1234G>A (p.Gly412Arg) rs760007926 0.00001
NM_152309.3(PIK3AP1):c.1239G>C (p.Glu413Asp) rs150135770 0.00001
NM_152309.3(PIK3AP1):c.1257C>T (p.Tyr419=) rs776232557 0.00001
NM_152309.3(PIK3AP1):c.1258G>A (p.Glu420Lys) rs763602032 0.00001
NM_152309.3(PIK3AP1):c.1259A>T (p.Glu420Val) rs1296135119 0.00001
NM_152309.3(PIK3AP1):c.1433G>A (p.Arg478Gln) rs760805333 0.00001
NM_152309.3(PIK3AP1):c.1471+14A>G rs771532503 0.00001
NM_152309.3(PIK3AP1):c.1472-14C>T rs767738933 0.00001
NM_152309.3(PIK3AP1):c.1472-8G>A rs774832922 0.00001
NM_152309.3(PIK3AP1):c.147C>T (p.Pro49=) rs557918551 0.00001
NM_152309.3(PIK3AP1):c.1483G>A (p.Gly495Arg) rs773784554 0.00001
NM_152309.3(PIK3AP1):c.1490C>A (p.Thr497Asn) rs1245379804 0.00001
NM_152309.3(PIK3AP1):c.1517T>A (p.Leu506His) rs1285143382 0.00001
NM_152309.3(PIK3AP1):c.1544C>T (p.Thr515Met) rs544379655 0.00001
NM_152309.3(PIK3AP1):c.1545G>A (p.Thr515=) rs375373941 0.00001
NM_152309.3(PIK3AP1):c.1590C>A (p.Pro530=) rs1363813166 0.00001
NM_152309.3(PIK3AP1):c.1645G>A (p.Asp549Asn) rs778480899 0.00001
NM_152309.3(PIK3AP1):c.1670-3T>C rs567983975 0.00001
NM_152309.3(PIK3AP1):c.1711G>A (p.Val571Ile) rs751645271 0.00001
NM_152309.3(PIK3AP1):c.1712T>C (p.Val571Ala) rs1251757430 0.00001
NM_152309.3(PIK3AP1):c.1805C>T (p.Thr602Met) rs1018719222 0.00001
NM_152309.3(PIK3AP1):c.1817G>A (p.Arg606Gln) rs768643466 0.00001
NM_152309.3(PIK3AP1):c.1920G>A (p.Ser640=) rs200684467 0.00001
NM_152309.3(PIK3AP1):c.1931G>A (p.Arg644His) rs771872937 0.00001
NM_152309.3(PIK3AP1):c.1942-10T>C rs767405565 0.00001
NM_152309.3(PIK3AP1):c.1955G>A (p.Arg652Gln) rs762971506 0.00001
NM_152309.3(PIK3AP1):c.1985G>A (p.Arg662Lys) rs747349549 0.00001
NM_152309.3(PIK3AP1):c.202G>A (p.Val68Met) rs952542746 0.00001
NM_152309.3(PIK3AP1):c.2035A>G (p.Ile679Val) rs200270009 0.00001
NM_152309.3(PIK3AP1):c.2051A>G (p.His684Arg) rs1589484825 0.00001
NM_152309.3(PIK3AP1):c.2066T>C (p.Val689Ala) rs1849075736 0.00001
NM_152309.3(PIK3AP1):c.2073T>C (p.Phe691=) rs766208052 0.00001
NM_152309.3(PIK3AP1):c.2084A>T (p.Glu695Val) rs1460674779 0.00001
NM_152309.3(PIK3AP1):c.2099A>T (p.Lys700Ile) rs760856517 0.00001
NM_152309.3(PIK3AP1):c.2147C>T (p.Thr716Ile) rs368775964 0.00001
NM_152309.3(PIK3AP1):c.2170+11G>A rs1292350732 0.00001
NM_152309.3(PIK3AP1):c.2170+14G>A rs1356906937 0.00001
NM_152309.3(PIK3AP1):c.2198G>A (p.Arg733Gln) rs777771892 0.00001
NM_152309.3(PIK3AP1):c.2214G>T (p.Val738=) rs752844654 0.00001
NM_152309.3(PIK3AP1):c.2220C>T (p.Ser740=) rs767807459 0.00001
NM_152309.3(PIK3AP1):c.2241+13A>T rs1283162856 0.00001
NM_152309.3(PIK3AP1):c.2298T>C (p.Asp766=) rs1370881954 0.00001
NM_152309.3(PIK3AP1):c.2317C>T (p.Leu773Phe) rs1462949784 0.00001
NM_152309.3(PIK3AP1):c.2354C>T (p.Ser785Leu) rs769596130 0.00001
NM_152309.3(PIK3AP1):c.2367G>A (p.Pro789=) rs776649790 0.00001
NM_152309.3(PIK3AP1):c.2369C>T (p.Thr790Ile) rs1334720195 0.00001
NM_152309.3(PIK3AP1):c.2378C>T (p.Thr793Ile) rs140404891 0.00001
NM_152309.3(PIK3AP1):c.256C>T (p.Pro86Ser) rs1461903721 0.00001
NM_152309.3(PIK3AP1):c.313G>T (p.Val105Leu) rs766269268 0.00001
NM_152309.3(PIK3AP1):c.491C>T (p.Ser164Leu) rs1281459160 0.00001
NM_152309.3(PIK3AP1):c.507G>C (p.Leu169=) rs1227973829 0.00001
NM_152309.3(PIK3AP1):c.509C>T (p.Pro170Leu) rs752904157 0.00001
NM_152309.3(PIK3AP1):c.512C>T (p.Thr171Met) rs567912958 0.00001
NM_152309.3(PIK3AP1):c.526G>A (p.Gly176Arg) rs768087248 0.00001
NM_152309.3(PIK3AP1):c.567+8C>T rs756216607 0.00001
NM_152309.3(PIK3AP1):c.568-7G>A rs377765234 0.00001
NM_152309.3(PIK3AP1):c.568G>A (p.Ala190Thr) rs748113882 0.00001
NM_152309.3(PIK3AP1):c.691A>G (p.Thr231Ala) rs201805846 0.00001
NM_152309.3(PIK3AP1):c.75G>A (p.Gln25=) rs202093664 0.00001
NM_152309.3(PIK3AP1):c.771A>G (p.Glu257=) rs934060056 0.00001
NM_152309.3(PIK3AP1):c.789T>C (p.Tyr263=) rs567664840 0.00001
NM_152309.3(PIK3AP1):c.831G>A (p.Ala277=) rs761608807 0.00001
NM_152309.3(PIK3AP1):c.854A>G (p.Gln285Arg) rs1440323214 0.00001
NM_152309.3(PIK3AP1):c.875A>T (p.Tyr292Phe) rs903471733 0.00001
NM_152309.3(PIK3AP1):c.917A>G (p.Lys306Arg) rs539294987 0.00001
NM_152309.3(PIK3AP1):c.937G>A (p.Gly313Arg) rs1280519942 0.00001
NM_152309.3(PIK3AP1):c.951T>C (p.Phe317=) rs1332271762 0.00001
GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1
GRCh37/hg19 9q34.11(chr9:131295791-131419128)x1
GRCh38/hg38 16q23.1(chr16:78064581-78164300)x1
GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1
NC_000009.11:g.(?_131382516)_(131393966_?)del
NC_000010.10:g.(?_98399836)_(98405338_?)dup
NC_000010.10:g.(?_98408406)_(98480151_?)dup
NC_000012.11:g.(?_11803062)_(15835885_?)dup
NC_000012.11:g.(?_13715717)_(14019142_?)dup
NC_000012.11:g.(?_13828659)_(13828813_?)del
NC_000012.11:g.(?_13906231)_(13906869_?)del
NC_000012.12:g.(?_12717002)_(13982130_?)del
NC_000012.12:g.(?_12717002)_(13982130_?)dup
NC_000023.10:g.(?_17393861)_(18671684_?)del
NC_000023.10:g.(?_17393861)_(18671684_?)dup
NC_000023.10:g.(?_17393881)_(18525300_?)del
NC_000023.10:g.(?_17393881)_(18665472_?)dup
NC_000023.10:g.(?_17393881)_(20284750_?)del
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.10:g.(?_18442725)_(18672749_?)dup
NC_000023.10:g.(?_18525053)_(18525300_?)del
NC_000023.10:g.(?_18525053)_(18613568_?)del
NC_000023.10:g.(?_18525053)_(18616753_?)dup
NC_000023.10:g.(?_18525053)_(18622998_?)del
NC_000023.10:g.(?_18525053)_(18623008_?)dup
NC_000023.10:g.(?_18525053)_(18662765_?)del
NC_000023.10:g.(?_18525053)_(18665462_?)dup
NC_000023.10:g.(?_18525053)_(18671664_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18525211)_(18528980_?)dup
NC_000023.10:g.(?_18525211)_(18671669_?)dup
NC_000023.10:g.(?_18534398)_(18600033_?)del
NC_000023.10:g.(?_18582577)_(18598108_?)del
NC_000023.10:g.(?_18582577)_(18627710_?)dup
NC_000023.10:g.(?_18582577)_(18631415_?)dup
NC_000023.10:g.(?_18582577)_(18646727_?)del
NC_000023.10:g.(?_18582587)_(18627700_?)dup
NC_000023.10:g.(?_18582587)_(18690188_?)del
NC_000023.10:g.(?_18593454)_(18598108_?)del
NC_000023.10:g.(?_18593454)_(18690188_?)del
NC_000023.10:g.(?_18599991)_(18600090_?)dup
NC_000023.10:g.(?_18626911)_(18643387_?)del
NC_000023.10:g.(?_18660124)_(18690188_?)dup
NC_000023.10:g.(?_18668510)_(18668732_?)dup
NC_000023.10:g.(?_18671532)_(18671664_?)del
NC_000023.10:g.(?_18671532)_(18671664_?)dup
NC_000023.10:g.(?_18671542)_(18671664_?)del
NC_000023.11:g.(18581559_18597843)dup
NC_000023.11:g.(?_18506933)_(18510874_?)del
NC_000023.11:g.(?_18506933)_(18604888_?)del
NC_000023.11:g.(?_18506933)_(18653564_?)del
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18595328)_(18595448_?)del
NC_000023.11:g.(?_18628351)_(18628607_?)del
NC_000023.11:g.(?_18653412)_(18653564_?)del
NC_000023.11:g.18419574_18504791del
NC_000023.11:g.18598477_18598478insTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTACTGAAGTTGG
NC_000023.11:g.18619867del
NC_000023.11:g.18645998A>G
NC_000023.11:g.18646012G>A
NC_000023.11:g.18646036C>T
NC_000023.11:g.18646049C>T
NC_000023.11:g.18646059_18646060delinsTA rs2147192668
NC_000023.11:g.18646068G>A rs2147192682
NC_000023.11:g.18646084C>T rs2147192703
NC_000023.11:g.18646086A>G
NC_000023.11:g.18646096G>T
NC_000023.11:g.18646107G>A rs1927762103
NC_000023.11:g.18650390G>T rs980932278
NC_000023.11:g.18650406C>T
NC_000023.11:g.18650435A>G
NC_000023.11:g.18650442C>G rs200236257
NC_000023.11:g.18650452C>A
NC_000023.11:g.18650452C>T
NC_000023.11:g.18650457G>A
NC_000023.11:g.18650460C>T rs1927981327
NC_000023.11:g.18650461C>T rs2147197730
NC_000023.11:g.18650467G>A
NC_000023.11:g.18650469G>A
NC_000023.11:g.18650479G>T
NC_000023.11:g.18650485T>A rs2147197777
NC_000023.11:g.18650488C>G
NC_000023.11:g.18650489C>T
NC_000023.11:g.18650491G>A
NC_000023.11:g.18650497C>T
NC_000023.11:g.18650499C>G
NC_000023.11:g.18650511C>G
NC_000023.11:g.18650527C>T
NC_000023.11:g.18650535T>A
NC_000023.11:g.18650541A>G
NC_000023.11:g.18650544C>T rs1927986563
NC_000023.11:g.18650548A>G
NC_000023.11:g.18650581C>T
NC_000023.11:g.18650592G>T
NC_000023.11:g.18650593G>A rs1927989790
NC_000023.11:g.18650611C>T
NC_000023.11:g.18650612C>G
NC_000023.11:g.18653413G>A
NC_000023.11:g.18653421G>C
NC_000023.11:g.18653422T>G rs1928132057
NC_000023.11:g.18653433G>T
NC_000023.11:g.18653450G>T
NC_000023.11:g.18653452C>G rs376960593
NC_000023.11:g.18653477A>G rs2147201225
NC_000023.11:g.18653492A>G
NC_000023.11:g.18653502G>C
NC_000023.11:g.18653508G>C
NC_000023.11:g.18653514C>T
NC_000023.11:g.18653517T>A rs1928138947
NC_000023.11:g.18653536G>A
NC_000023.11:g.18653537G>T
NM_000330.4(RS1):c.185-3110G>T
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.185-3260C>T rs866859766
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000834.5(GRIN2B):c.1003C>T (p.Leu335=)
NM_000834.5(GRIN2B):c.1010+10G>T rs1435186399
NM_000834.5(GRIN2B):c.1010+20C>A
NM_000834.5(GRIN2B):c.1010+20C>T rs201837767
NM_000834.5(GRIN2B):c.1011-10A>T rs200245117
NM_000834.5(GRIN2B):c.1011-15A>G
NM_000834.5(GRIN2B):c.1011-18T>G
NM_000834.5(GRIN2B):c.1011-1G>C
NM_000834.5(GRIN2B):c.1011-20C>A
NM_000834.5(GRIN2B):c.1011-20C>T
NM_000834.5(GRIN2B):c.1013A>G (p.Tyr338Cys)
NM_000834.5(GRIN2B):c.101G>C (p.Ser34Thr)
NM_000834.5(GRIN2B):c.1038G>A (p.Gly346=) rs753955843
NM_000834.5(GRIN2B):c.1047G>A (p.Leu349=)
NM_000834.5(GRIN2B):c.104T>A (p.Ile35Asn)
NM_000834.5(GRIN2B):c.104T>C (p.Ile35Thr) rs201568626
NM_000834.5(GRIN2B):c.1053C>T (p.Phe351=)
NM_000834.5(GRIN2B):c.1055G>A (p.Ser352Asn)
NM_000834.5(GRIN2B):c.1068C>T (p.Tyr356=)
NM_000834.5(GRIN2B):c.1074G>A (p.Met358Ile)
NM_000834.5(GRIN2B):c.1080G>T (p.Pro360=) rs201952040
NM_000834.5(GRIN2B):c.1086G>C (p.Leu362=) rs1950068460
NM_000834.5(GRIN2B):c.1103A>C (p.Asn368Thr) rs1314805334
NM_000834.5(GRIN2B):c.1124G>A (p.Arg375Lys)
NM_000834.5(GRIN2B):c.1125+12C>T
NM_000834.5(GRIN2B):c.1125+4A>G rs1950067723
NM_000834.5(GRIN2B):c.1125+6A>T
NM_000834.5(GRIN2B):c.1125+6_1125+10dup rs760029228
NM_000834.5(GRIN2B):c.1126-13_1126-12inv
NM_000834.5(GRIN2B):c.1126-16G>A rs2136481549
NM_000834.5(GRIN2B):c.1126-16G>C
NM_000834.5(GRIN2B):c.1126-20T>C rs752524243
NM_000834.5(GRIN2B):c.1126-3C>T rs1555112424
NM_000834.5(GRIN2B):c.1126-7del rs774388082
NM_000834.5(GRIN2B):c.1126G>A (p.Val376Met)
NM_000834.5(GRIN2B):c.1128G>A (p.Val376=)
NM_000834.5(GRIN2B):c.1143C>T (p.Asp381=)
NM_000834.5(GRIN2B):c.1146G>C (p.Lys382Asn)
NM_000834.5(GRIN2B):c.1147T>A (p.Ser383Thr) rs199671864
NM_000834.5(GRIN2B):c.1147T>G (p.Ser383Ala) rs199671864
NM_000834.5(GRIN2B):c.1167T>C (p.Tyr389=) rs2136481440
NM_000834.5(GRIN2B):c.1185T>C (p.Cys395=)
NM_000834.5(GRIN2B):c.1189G>A (p.Glu397Lys)
NM_000834.5(GRIN2B):c.1213C>T (p.His405Tyr)
NM_000834.5(GRIN2B):c.1223T>C (p.Ile408Thr)
NM_000834.5(GRIN2B):c.1230C>G (p.Thr410=)
NM_000834.5(GRIN2B):c.1230C>T (p.Thr410=)
NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln) rs1555112356
NM_000834.5(GRIN2B):c.123C>T (p.Leu41=) rs2136747318
NM_000834.5(GRIN2B):c.1240G>A (p.Ala414Thr) rs1949443718
NM_000834.5(GRIN2B):c.1245A>G (p.Pro415=)
NM_000834.5(GRIN2B):c.1251C>T (p.Val417=)
NM_000834.5(GRIN2B):c.1266G>A (p.Val422=)
NM_000834.5(GRIN2B):c.1273C>A (p.Leu425Met)
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val) rs1591643530
NM_000834.5(GRIN2B):c.1288A>C (p.Met430Leu)
NM_000834.5(GRIN2B):c.1304C>G (p.Pro435Arg)
NM_000834.5(GRIN2B):c.1308C>T (p.Cys436=) rs992479287
NM_000834.5(GRIN2B):c.1320A>T (p.Ile440=) rs753284709
NM_000834.5(GRIN2B):c.1321G>A (p.Val441Ile)
NM_000834.5(GRIN2B):c.1328+10C>T rs765922947
NM_000834.5(GRIN2B):c.1328+11C>T
NM_000834.5(GRIN2B):c.1329-15T>A
NM_000834.5(GRIN2B):c.1329-15T>C
NM_000834.5(GRIN2B):c.1329-8T>A rs201154780
NM_000834.5(GRIN2B):c.1330A>T (p.Asn444Tyr) rs770946018
NM_000834.5(GRIN2B):c.1332T>C (p.Asn444=)
NM_000834.5(GRIN2B):c.1341C>G (p.Asp447Glu) rs35025065
NM_000834.5(GRIN2B):c.1345G>T (p.Glu449Ter) rs1555112186
NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=)
NM_000834.5(GRIN2B):c.1349C>T (p.Pro450Leu)
NM_000834.5(GRIN2B):c.135C>T (p.Ser45=)
NM_000834.5(GRIN2B):c.1377G>C (p.Gly459=) rs779734725
NM_000834.5(GRIN2B):c.1386T>C (p.Ile462=)
NM_000834.5(GRIN2B):c.1389C>T (p.Asp463=) rs1272584608
NM_000834.5(GRIN2B):c.1401A>G (p.Lys467=)
NM_000834.5(GRIN2B):c.1412C>A (p.Ser471Tyr)
NM_000834.5(GRIN2B):c.1427A>G (p.Tyr476Cys)
NM_000834.5(GRIN2B):c.1478C>A (p.Thr493Asn) rs2136479904
NM_000834.5(GRIN2B):c.1479C>A (p.Thr493=) rs202139349
NM_000834.5(GRIN2B):c.1479C>G (p.Thr493=) rs202139349
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg) rs867553974
NM_000834.5(GRIN2B):c.1500+10CA[4]
NM_000834.5(GRIN2B):c.1500+8T>A
NM_000834.5(GRIN2B):c.1500G>A (p.Glu500=) rs886049102
NM_000834.5(GRIN2B):c.1501-15G>A
NM_000834.5(GRIN2B):c.1501-7C>G
NM_000834.5(GRIN2B):c.1509G>A (p.Met503Ile)
NM_000834.5(GRIN2B):c.1525G>A (p.Ala509Thr) rs1949421309
NM_000834.5(GRIN2B):c.1536A>G (p.Ser512=)
NM_000834.5(GRIN2B):c.1539C>T (p.Leu513=) rs369786199
NM_000834.5(GRIN2B):c.153G>A (p.Lys51=) rs1057522391
NM_000834.5(GRIN2B):c.1541C>A (p.Thr514Asn)
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
NM_000834.5(GRIN2B):c.1553A>G (p.Glu518Gly)
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1560G>C (p.Ser520=)
NM_000834.5(GRIN2B):c.1577del (p.Ser526fs)
NM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser)
NM_000834.5(GRIN2B):c.1581G>A (p.Val527=) rs2136479424
NM_000834.5(GRIN2B):c.1588A>G (p.Ile530Val)
NM_000834.5(GRIN2B):c.1596A>C (p.Thr532=)
NM_000834.5(GRIN2B):c.1596A>G (p.Thr532=) rs1253357396
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.15G>T (p.Ala5=) rs34315573
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
NM_000834.5(GRIN2B):c.1608C>T (p.Val536=)
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
NM_000834.5(GRIN2B):c.1621A>G (p.Ser541Gly)
NM_000834.5(GRIN2B):c.1623C>A (p.Ser541Arg)
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
NM_000834.5(GRIN2B):c.1628G>A (p.Gly543Glu) rs2136479365
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
NM_000834.5(GRIN2B):c.1629G>A (p.Gly543=) rs199517784
NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys) rs763469464
NM_000834.5(GRIN2B):c.1646C>G (p.Ala549Gly)
NM_000834.5(GRIN2B):c.1648T>C (p.Phe550Leu)
NM_000834.5(GRIN2B):c.1654+12G>C
NM_000834.5(GRIN2B):c.1654+15T>A
NM_000834.5(GRIN2B):c.1654+19G>C
NM_000834.5(GRIN2B):c.1654+19G>T rs746677072
NM_000834.5(GRIN2B):c.1654+20G>T rs1160819541
NM_000834.5(GRIN2B):c.1654+8A>G
NM_000834.5(GRIN2B):c.1654+9T>C
NM_000834.5(GRIN2B):c.1655-11C>G
NM_000834.5(GRIN2B):c.1655-12dup rs768388356
NM_000834.5(GRIN2B):c.1655-14T>C
NM_000834.5(GRIN2B):c.1655-18C>T rs2136474744
NM_000834.5(GRIN2B):c.1655-6C>A
NM_000834.5(GRIN2B):c.1655-9C>A
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.1659A>C (p.Pro553=)
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn) rs1949369220
NM_000834.5(GRIN2B):c.1664G>C (p.Ser555Thr)
NM_000834.5(GRIN2B):c.1667_1672dup (p.Asp557_Val558insAlaAsp)
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1674A>G (p.Val558=) rs1949369008
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) rs1949368959
NM_000834.5(GRIN2B):c.167A>C (p.Lys56Thr)
NM_000834.5(GRIN2B):c.1701C>T (p.Leu567=)
NM_000834.5(GRIN2B):c.1705G>A (p.Val569Ile) rs1293991066
NM_000834.5(GRIN2B):c.1714G>A (p.Val572Met)
NM_000834.5(GRIN2B):c.1731T>G (p.Phe577Leu)
NM_000834.5(GRIN2B):c.1734G>A (p.Glu578=)
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr) rs199801114
NM_000834.5(GRIN2B):c.1745C>T (p.Pro582Leu) rs796052581
NM_000834.5(GRIN2B):c.174T>C (p.Asp58=) rs1555149549
NM_000834.5(GRIN2B):c.1756A>C (p.Asn586His) rs764017577
NM_000834.5(GRIN2B):c.1758C>T (p.Asn586=)
NM_000834.5(GRIN2B):c.1773T>C (p.Asp591=)
NM_000834.5(GRIN2B):c.177CCA[1] (p.His61del)
NM_000834.5(GRIN2B):c.1780+20C>G
NM_000834.5(GRIN2B):c.1780+8C>G rs199986080
NM_000834.5(GRIN2B):c.1781-14T>G
NM_000834.5(GRIN2B):c.1786G>A (p.Gly596Ser)
NM_000834.5(GRIN2B):c.1786G>C (p.Gly596Arg)
NM_000834.5(GRIN2B):c.1797T>A (p.Ser599=) rs2136470570
NM_000834.5(GRIN2B):c.17A>C (p.Glu6Ala)
NM_000834.5(GRIN2B):c.1806C>A (p.Ile602=)
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.5(GRIN2B):c.1807G>A (p.Gly603Ser)
NM_000834.5(GRIN2B):c.180C>T (p.His60=)
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser) rs1591638805
NM_000834.5(GRIN2B):c.1821G>A (p.Trp607Ter) rs1057518700
NM_000834.5(GRIN2B):c.1824G>A (p.Leu608=) rs1949321963
NM_000834.5(GRIN2B):c.1826T>C (p.Leu609Pro)
NM_000834.5(GRIN2B):c.182A>G (p.His61Arg)
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg) rs2136470509
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1836G>A (p.Leu612=)
NM_000834.5(GRIN2B):c.1839G>C (p.Val613=)
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) rs1949321492
NM_000834.5(GRIN2B):c.1852G>A (p.Val618Ile)
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1866C>T (p.Asn622=) rs1949321214
NM_000834.5(GRIN2B):c.1871A>G (p.Lys624Arg) rs2136470409
NM_000834.5(GRIN2B):c.1878C>A (p.Thr626=) rs1555110827
NM_000834.5(GRIN2B):c.187T>C (p.Ser63Pro) rs2136747223
NM_000834.5(GRIN2B):c.188C>T (p.Ser63Phe) rs1865821627
NM_000834.5(GRIN2B):c.1896G>A (p.Val632=)
NM_000834.5(GRIN2B):c.189C>A (p.Ser63=) rs199707487
NM_000834.5(GRIN2B):c.1902G>A (p.Val634=) rs2136470347
NM_000834.5(GRIN2B):c.1908C>T (p.Ala636=)
NM_000834.5(GRIN2B):c.1927C>A (p.Leu643Met)
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro) rs2136470302
NM_000834.5(GRIN2B):c.1930G>A (p.Ala644Thr) rs2136470299
NM_000834.5(GRIN2B):c.1932C>G (p.Ala644=)
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.1944C>T (p.Ala648=) rs1591638714
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser) rs879253945
NM_000834.5(GRIN2B):c.1957T>C (p.Phe653Leu)
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.1965C>A (p.Ile655=)
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter) rs1135401799
NM_000834.5(GRIN2B):c.196C>T (p.Pro66Ser) rs1865821300
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp) rs771157135
NM_000834.5(GRIN2B):c.1995C>T (p.Gly665=) rs1316353433
NM_000834.5(GRIN2B):c.1998G>A (p.Leu666=) rs1307827160
NM_000834.5(GRIN2B):c.199C>A (p.Arg67=)
NM_000834.5(GRIN2B):c.199C>T (p.Arg67Trp)
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.5(GRIN2B):c.2009A>T (p.Lys670Met)
NM_000834.5(GRIN2B):c.200G>A (p.Arg67Gln)
NM_000834.5(GRIN2B):c.2010+5G>A
NM_000834.5(GRIN2B):c.2010+8A>T
NM_000834.5(GRIN2B):c.2010+9C>T
NM_000834.5(GRIN2B):c.2010G>A (p.Lys670=) rs1369104116
NM_000834.5(GRIN2B):c.2011-10C>T
NM_000834.5(GRIN2B):c.2011-11TC[2] rs1043571496
NM_000834.5(GRIN2B):c.2011-11TC[3] rs1043571496
NM_000834.5(GRIN2B):c.2011-20A>G
NM_000834.5(GRIN2B):c.2011-20_2011-11del rs1381544753
NM_000834.5(GRIN2B):c.2011-20_2011-17del rs751965360
NM_000834.5(GRIN2B):c.2011-20_2011-17dup
NM_000834.5(GRIN2B):c.2011-4C>T rs1447482208
NM_000834.5(GRIN2B):c.2011-5T>C rs2136416046
NM_000834.5(GRIN2B):c.2011-7T>C
NM_000834.5(GRIN2B):c.2021C>T (p.Pro674Leu)
NM_000834.5(GRIN2B):c.2033C>T (p.Ser678Leu) rs1948714012
NM_000834.5(GRIN2B):c.2036C>A (p.Pro679His)
NM_000834.5(GRIN2B):c.2040T>C (p.Pro680=) rs1948713794
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His) rs886041095
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.5(GRIN2B):c.2056G>A (p.Val686Met) rs2136415913
NM_000834.5(GRIN2B):c.2064C>A (p.Asn688Lys) rs748606750
NM_000834.5(GRIN2B):c.2064C>T (p.Asn688=)
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2069G>T (p.Ser690Ile)
NM_000834.5(GRIN2B):c.2078G>C (p.Arg693Thr) rs1565457884
NM_000834.5(GRIN2B):c.2083A>G (p.Ile695Val)
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2098G>C (p.Ala700Pro)
NM_000834.5(GRIN2B):c.2099C>G (p.Ala700Gly) rs1191539298
NM_000834.5(GRIN2B):c.2099C>T (p.Ala700Val) rs1191539298
NM_000834.5(GRIN2B):c.2109T>C (p.His703=)
NM_000834.5(GRIN2B):c.2111C>T (p.Ala704Val) rs2136415760
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_000834.5(GRIN2B):c.2121A>C (p.Gly707=)
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val) rs1591612279
NM_000834.5(GRIN2B):c.2136G>A (p.Arg712=)
NM_000834.5(GRIN2B):c.2139T>C (p.Gly713=) rs2136415669
NM_000834.5(GRIN2B):c.2148T>C (p.Asp716=) rs749565577
NM_000834.5(GRIN2B):c.2150C>T (p.Ala717Val) rs2136415648
NM_000834.5(GRIN2B):c.2151A>G (p.Ala717=) rs2136415645
NM_000834.5(GRIN2B):c.2152T>C (p.Leu718=) rs1340071049
NM_000834.5(GRIN2B):c.2161C>T (p.Leu721=)
NM_000834.5(GRIN2B):c.2163G>A (p.Leu721=)
NM_000834.5(GRIN2B):c.216C>A (p.Ala72=)
NM_000834.5(GRIN2B):c.2171+10G>T
NM_000834.5(GRIN2B):c.2171+17A>C
NM_000834.5(GRIN2B):c.2171+18G>T
NM_000834.5(GRIN2B):c.2171+9T>C
NM_000834.5(GRIN2B):c.2172-10del rs761900678
NM_000834.5(GRIN2B):c.2172-15dup rs761900678
NM_000834.5(GRIN2B):c.2172-16C>T
NM_000834.5(GRIN2B):c.2172-20_2172-17del rs765274847
NM_000834.5(GRIN2B):c.2172-6G>T
NM_000834.5(GRIN2B):c.2172-8del
NM_000834.5(GRIN2B):c.2176C>T (p.Leu726=)
NM_000834.5(GRIN2B):c.2177T>C (p.Leu726Pro) rs1591611012
NM_000834.5(GRIN2B):c.2181T>C (p.Asp727=)
NM_000834.5(GRIN2B):c.2184C>T (p.Ala728=)
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
NM_000834.5(GRIN2B):c.2202A>C (p.Ala734=) rs148185805
NM_000834.5(GRIN2B):c.2202A>G (p.Ala734=) rs148185805
NM_000834.5(GRIN2B):c.2205G>A (p.Val735=)
NM_000834.5(GRIN2B):c.2214T>C (p.Tyr738=)
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr) rs1555103652
NM_000834.5(GRIN2B):c.2229T>A (p.Asp743Glu) rs1173320185
NM_000834.5(GRIN2B):c.2242C>T (p.Leu748=)
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2268C>G (p.Val756=)
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) rs1565457062
NM_000834.5(GRIN2B):c.228C>A (p.Thr76=) rs77299791
NM_000834.5(GRIN2B):c.2301A>G (p.Gln767=)
NM_000834.5(GRIN2B):c.2313G>T (p.Gly771=) rs150554184
NM_000834.5(GRIN2B):c.2319G>A (p.Lys773=)
NM_000834.5(GRIN2B):c.2320C>T (p.Arg774Cys) rs2136413178
NM_000834.5(GRIN2B):c.2321G>A (p.Arg774His)
NM_000834.5(GRIN2B):c.232C>A (p.Pro78Thr) rs1865820574
NM_000834.5(GRIN2B):c.233C>G (p.Pro78Arg)
NM_000834.5(GRIN2B):c.2344C>T (p.Gln782Ter)
NM_000834.5(GRIN2B):c.2352_2359+2dup
NM_000834.5(GRIN2B):c.2359+12_2359+15dup rs768588788
NM_000834.5(GRIN2B):c.2359+17G>C
NM_000834.5(GRIN2B):c.2360-10del rs1370652121
NM_000834.5(GRIN2B):c.2360-15C>A rs1555103197
NM_000834.5(GRIN2B):c.2360-16T>G
NM_000834.5(GRIN2B):c.2360-6C>T
NM_000834.5(GRIN2B):c.2360-9_2360-4del rs770518465
NM_000834.5(GRIN2B):c.2368G>T (p.Glu790Ter)
NM_000834.5(GRIN2B):c.2385C>G (p.Leu795=)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2393C>G (p.Thr798Ser) rs1948652982
NM_000834.5(GRIN2B):c.2394T>A (p.Thr798=) rs1009828299
NM_000834.5(GRIN2B):c.23G>A (p.Cys8Tyr)
NM_000834.5(GRIN2B):c.23G>C (p.Cys8Ser) rs1060503160
NM_000834.5(GRIN2B):c.2404C>T (p.His802Tyr)
NM_000834.5(GRIN2B):c.2410G>A (p.Glu804Lys) rs1555103172
NM_000834.5(GRIN2B):c.2422G>A (p.Val808Ile) rs1565455923
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_000834.5(GRIN2B):c.2430C>T (p.Ser810=) rs864309560
NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter) rs1555103165
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val) rs1948652423
NM_000834.5(GRIN2B):c.2438T>C (p.Leu813Pro)
NM_000834.5(GRIN2B):c.244A>G (p.Ile82Val)
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr) rs879254016
NM_000834.5(GRIN2B):c.2453T>G (p.Met818Arg) rs879254016
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
NM_000834.5(GRIN2B):c.2457A>G (p.Ala819=)
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.246C>A (p.Ile82=)
NM_000834.5(GRIN2B):c.246C>T (p.Ile82=) rs1865820376
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
NM_000834.5(GRIN2B):c.2479G>A (p.Ala827Thr) rs2136409718
NM_000834.5(GRIN2B):c.2480C>A (p.Ala827Glu) rs748075089
NM_000834.5(GRIN2B):c.2480C>T (p.Ala827Val)
NM_000834.5(GRIN2B):c.2499C>T (p.Leu833=)
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_000834.5(GRIN2B):c.2514C>A (p.Cys838Ter)
NM_000834.5(GRIN2B):c.2517A>G (p.Glu839=)
NM_000834.5(GRIN2B):c.251G>C (p.Arg84Pro)
NM_000834.5(GRIN2B):c.2536T>C (p.Phe846Leu)
NM_000834.5(GRIN2B):c.2537T>G (p.Phe846Cys)
NM_000834.5(GRIN2B):c.2538C>A (p.Phe846Leu) rs1414370305
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.253A>G (p.Ile85Val)
NM_000834.5(GRIN2B):c.2550T>C (p.Phe850=) rs1591608921
NM_000834.5(GRIN2B):c.2551A>T (p.Met851Leu) rs1948649948
NM_000834.5(GRIN2B):c.2552T>C (p.Met851Thr)
NM_000834.5(GRIN2B):c.2555G>A (p.Gly852Asp)
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) rs1168374610
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_000834.5(GRIN2B):c.2572C>G (p.Pro858Ala)
NM_000834.5(GRIN2B):c.2578A>G (p.Met860Val)
NM_000834.5(GRIN2B):c.2582T>C (p.Val861Ala) rs2136409430
NM_000834.5(GRIN2B):c.2598+14T>C
NM_000834.5(GRIN2B):c.2598+6T>C rs773452060
NM_000834.5(GRIN2B):c.2599-15C>G
NM_000834.5(GRIN2B):c.2599-17_2599-14del
NM_000834.5(GRIN2B):c.2599-18C>T
NM_000834.5(GRIN2B):c.2599-19C>T
NM_000834.5(GRIN2B):c.2599-7G>C
NM_000834.5(GRIN2B):c.25T>C (p.Ser9Pro)
NM_000834.5(GRIN2B):c.2625G>T (p.Val875=) rs1325073683
NM_000834.5(GRIN2B):c.2628G>C (p.Ala876=)
NM_000834.5(GRIN2B):c.2630T>G (p.Ile877Ser) rs2136406448
NM_000834.5(GRIN2B):c.2631C>A (p.Ile877=) rs1156368940
NM_000834.5(GRIN2B):c.2632G>A (p.Glu878Lys)
NM_000834.5(GRIN2B):c.2638C>A (p.Arg880Ser) rs1180122833
NM_000834.5(GRIN2B):c.2638C>T (p.Arg880Cys) rs1180122833
NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His) rs904771425
NM_000834.5(GRIN2B):c.2646T>C (p.Ser882=)
NM_000834.5(GRIN2B):c.264C>T (p.Leu88=)
NM_000834.5(GRIN2B):c.2652G>A (p.Met884Ile)
NM_000834.5(GRIN2B):c.2655C>T (p.Asn885=) rs2136406373
NM_000834.5(GRIN2B):c.2662A>G (p.Thr888Ala) rs200256539
NM_000834.5(GRIN2B):c.2664_2665delinsTA (p.Ala889Thr)
NM_000834.5(GRIN2B):c.2665G>A (p.Ala889Thr) rs756224637
NM_000834.5(GRIN2B):c.266T>C (p.Met89Thr)
NM_000834.5(GRIN2B):c.2672T>C (p.Met891Thr)
NM_000834.5(GRIN2B):c.2684A>G (p.His895Arg)
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
NM_000834.5(GRIN2B):c.2685C>T (p.His895=) rs549839161
NM_000834.5(GRIN2B):c.2698C>T (p.Arg900Cys)
NM_000834.5(GRIN2B):c.2699G>A (p.Arg900His)
NM_000834.5(GRIN2B):c.2708G>A (p.Arg903His) rs1555102571
NM_000834.5(GRIN2B):c.2717A>G (p.Lys906Arg)
NM_000834.5(GRIN2B):c.271_274delinsCCCT (p.Asp91_Arg92delinsProTrp)
NM_000834.5(GRIN2B):c.2721C>T (p.Asn907=)
NM_000834.5(GRIN2B):c.2733G>A (p.Leu911=)
NM_000834.5(GRIN2B):c.273C>T (p.Asp91=)
NM_000834.5(GRIN2B):c.2741T>C (p.Val914Ala) rs1565454741
NM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys)
NM_000834.5(GRIN2B):c.2748C>T (p.Gly916=) rs1948608745
NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala) rs2136406174
NM_000834.5(GRIN2B):c.274C>A (p.Arg92=) rs1436757161
NM_000834.5(GRIN2B):c.2750C>T (p.Ser917Leu) rs1555102552
NM_000834.5(GRIN2B):c.2755C>A (p.Gln919Lys) rs1555102548
NM_000834.5(GRIN2B):c.2755C>T (p.Gln919Ter) rs1555102548
NM_000834.5(GRIN2B):c.2761G>A (p.Ala921Thr) rs1313881938
NM_000834.5(GRIN2B):c.2761G>C (p.Ala921Pro) rs1313881938
NM_000834.5(GRIN2B):c.2779C>A (p.Arg927=)
NM_000834.5(GRIN2B):c.2780G>A (p.Arg927Gln) rs199677214
NM_000834.5(GRIN2B):c.278A>G (p.Lys93Arg) rs1865819544
NM_000834.5(GRIN2B):c.2790C>T (p.Ser930=)
NM_000834.5(GRIN2B):c.2791G>A (p.Val931Ile) rs199941557
NM_000834.5(GRIN2B):c.2795A>G (p.Tyr932Cys)
NM_000834.5(GRIN2B):c.2796T>C (p.Tyr932=) rs2136406080
NM_000834.5(GRIN2B):c.2810A>G (p.His937Arg) rs1168893427
NM_000834.5(GRIN2B):c.2816G>T (p.Arg939Leu)
NM_000834.5(GRIN2B):c.2816_2817delinsAA (p.Arg939Gln)
NM_000834.5(GRIN2B):c.2826G>T (p.Thr942=) rs140573925
NM_000834.5(GRIN2B):c.282C>G (p.Ile94Met) rs147132902
NM_000834.5(GRIN2B):c.2834_2837dup (p.Cys946Ter) rs1948606788
NM_000834.5(GRIN2B):c.2835C>T (p.Asp945=)
NM_000834.5(GRIN2B):c.2848AAC[1] (p.Asn951del) rs2136406017
NM_000834.5(GRIN2B):c.2852A>T (p.Asn951Ile)
NM_000834.5(GRIN2B):c.2854C>G (p.Pro952Ala) rs1565454641
NM_000834.5(GRIN2B):c.2854C>T (p.Pro952Ser) rs1565454641
NM_000834.5(GRIN2B):c.2856G>A (p.Pro952=) rs547507161
NM_000834.5(GRIN2B):c.2863GAG[1] (p.Glu956del)
NM_000834.5(GRIN2B):c.2865G>A (p.Glu955=) rs1279558402
NM_000834.5(GRIN2B):c.2866G>A (p.Glu956Lys) rs886049101
NM_000834.5(GRIN2B):c.2877C>T (p.Phe959=)
NM_000834.5(GRIN2B):c.2881G>A (p.Asp961Asn)
NM_000834.5(GRIN2B):c.2884_2886del (p.Tyr962del) rs2136405960
NM_000834.5(GRIN2B):c.2889C>T (p.Ile963=)
NM_000834.5(GRIN2B):c.2897T>A (p.Val966Glu)
NM_000834.5(GRIN2B):c.2899G>C (p.Glu967Gln)
NM_000834.5(GRIN2B):c.2906C>T (p.Thr969Met)
NM_000834.5(GRIN2B):c.2913G>C (p.Gly971=) rs200696950
NM_000834.5(GRIN2B):c.2914_2919dup (p.Asn972_Leu973dup) rs1948604917
NM_000834.5(GRIN2B):c.2919G>A (p.Leu973=)
NM_000834.5(GRIN2B):c.291G>T (p.Val97=)
NM_000834.5(GRIN2B):c.2922G>C (p.Gln974His)
NM_000834.5(GRIN2B):c.2946A>C (p.Gln982His) rs758533546
NM_000834.5(GRIN2B):c.2946A>G (p.Gln982=)
NM_000834.5(GRIN2B):c.2959C>T (p.His987Tyr)
NM_000834.5(GRIN2B):c.2960A>G (p.His987Arg) rs765183831
NM_000834.5(GRIN2B):c.2968C>T (p.Arg990Trp)
NM_000834.5(GRIN2B):c.2975A>G (p.His992Arg) rs1555102461
NM_000834.5(GRIN2B):c.2979T>C (p.Ser993=)
NM_000834.5(GRIN2B):c.2981T>C (p.Ile994Thr)
NM_000834.5(GRIN2B):c.3004G>A (p.Gly1002Arg)
NM_000834.5(GRIN2B):c.3005G>T (p.Gly1002Val) rs773762599
NM_000834.5(GRIN2B):c.3006G>A (p.Gly1002=)
NM_000834.5(GRIN2B):c.3009C>G (p.Leu1003=) rs1460313772
NM_000834.5(GRIN2B):c.3011A>G (p.Tyr1004Cys)
NM_000834.5(GRIN2B):c.3024C>A (p.Asn1008Lys)
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_000834.5(GRIN2B):c.3029C>T (p.Pro1010Leu)
NM_000834.5(GRIN2B):c.3030C>G (p.Pro1010=) rs1948601838
NM_000834.5(GRIN2B):c.3043T>A (p.Ser1015Thr) rs574130239
NM_000834.5(GRIN2B):c.3043T>G (p.Ser1015Ala) rs574130239
NM_000834.5(GRIN2B):c.3047G>C (p.Arg1016Thr)
NM_000834.5(GRIN2B):c.3054C>T (p.Ile1018=) rs2136405540
NM_000834.5(GRIN2B):c.3073A>T (p.Ile1025Phe)
NM_000834.5(GRIN2B):c.3074T>G (p.Ile1025Ser)
NM_000834.5(GRIN2B):c.3075C>T (p.Ile1025=)
NM_000834.5(GRIN2B):c.3077G>A (p.Gly1026Asp)
NM_000834.5(GRIN2B):c.3078C>T (p.Gly1026=) rs1555102406
NM_000834.5(GRIN2B):c.3082C>T (p.Pro1028Ser)
NM_000834.5(GRIN2B):c.3085TCC[1] (p.Ser1030del) rs878854145
NM_000834.5(GRIN2B):c.3090C>A (p.Ser1030=) rs2136405464
NM_000834.5(GRIN2B):c.3092A>T (p.Lys1031Met) rs1311868719
NM_000834.5(GRIN2B):c.3096C>T (p.His1032=)
NM_000834.5(GRIN2B):c.3102G>C (p.Gln1034His) rs1204745546
NM_000834.5(GRIN2B):c.3104T>C (p.Leu1035Pro)
NM_000834.5(GRIN2B):c.3114G>C (p.Leu1038=)
NM_000834.5(GRIN2B):c.3118G>T (p.Gly1040Cys)
NM_000834.5(GRIN2B):c.3120C>T (p.Gly1040=)
NM_000834.5(GRIN2B):c.3127T>C (p.Ser1043Pro)
NM_000834.5(GRIN2B):c.3127T>G (p.Ser1043Ala) rs1251332746
NM_000834.5(GRIN2B):c.3139G>A (p.Asp1047Asn)
NM_000834.5(GRIN2B):c.313C>G (p.Gln105Glu)
NM_000834.5(GRIN2B):c.3141C>A (p.Asp1047Glu) rs1948598797
NM_000834.5(GRIN2B):c.3142C>G (p.Arg1048Gly) rs1216931858
NM_000834.5(GRIN2B):c.3146A>G (p.Tyr1049Cys) rs201866998
NM_000834.5(GRIN2B):c.3152G>C (p.Gly1051Ala)
NM_000834.5(GRIN2B):c.3160G>A (p.Asp1054Asn)
NM_000834.5(GRIN2B):c.3174C>G (p.Ser1058=) rs772364390
NM_000834.5(GRIN2B):c.3177T>C (p.Asp1059=)
NM_000834.5(GRIN2B):c.3201C>A (p.Thr1067=)
NM_000834.5(GRIN2B):c.3201C>T (p.Thr1067=) rs929166123
NM_000834.5(GRIN2B):c.3206C>T (p.Thr1069Ile)
NM_000834.5(GRIN2B):c.3221A>T (p.Glu1074Val)
NM_000834.5(GRIN2B):c.3227A>G (p.Asn1076Ser)
NM_000834.5(GRIN2B):c.3231C>A (p.Ala1077=)
NM_000834.5(GRIN2B):c.3233C>G (p.Ala1078Gly)
NM_000834.5(GRIN2B):c.3237G>C (p.Lys1079Asn)
NM_000834.5(GRIN2B):c.324C>A (p.Ile108=)
NM_000834.5(GRIN2B):c.324C>T (p.Ile108=)
NM_000834.5(GRIN2B):c.3253T>C (p.Tyr1085His) rs1948595625
NM_000834.5(GRIN2B):c.3255T>C (p.Tyr1085=)
NM_000834.5(GRIN2B):c.325G>T (p.Ala109Ser) rs772078838
NM_000834.5(GRIN2B):c.3272A>C (p.Lys1091Thr)
NM_000834.5(GRIN2B):c.3275G>A (p.Arg1092Gln) rs1555102321
NM_000834.5(GRIN2B):c.3295C>T (p.Arg1099Cys)
NM_000834.5(GRIN2B):c.3296G>A (p.Arg1099His) rs1411402744
NM_000834.5(GRIN2B):c.3296G>T (p.Arg1099Leu)
NM_000834.5(GRIN2B):c.3302A>T (p.Glu1101Val) rs2136405009
NM_000834.5(GRIN2B):c.3306T>C (p.Phe1102=) rs763445499
NM_000834.5(GRIN2B):c.3309C>T (p.Asp1103=)
NM_000834.5(GRIN2B):c.3318G>A (p.Glu1106=)
NM_000834.5(GRIN2B):c.3322G>A (p.Ala1108Thr)
NM_000834.5(GRIN2B):c.3323C>T (p.Ala1108Val)
NM_000834.5(GRIN2B):c.3326A>G (p.Tyr1109Cys) rs1948594046
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000834.5(GRIN2B):c.3335G>A (p.Arg1112Gln) rs557670363
NM_000834.5(GRIN2B):c.3339G>A (p.Pro1113=) rs200660626
NM_000834.5(GRIN2B):c.3339G>T (p.Pro1113=) rs200660626
NM_000834.5(GRIN2B):c.3340C>T (p.Pro1114Ser) rs2136404905
NM_000834.5(GRIN2B):c.3343C>A (p.Arg1115Ser) rs370908319
NM_000834.5(GRIN2B):c.3344G>A (p.Arg1115His) rs199514711
NM_000834.5(GRIN2B):c.3352G>T (p.Asp1118Tyr) rs2136404881
NM_000834.5(GRIN2B):c.3360G>T (p.Lys1120Asn)
NM_000834.5(GRIN2B):c.3361C>T (p.Arg1121Cys)
NM_000834.5(GRIN2B):c.3365A>G (p.Tyr1122Cys) rs749285212
NM_000834.5(GRIN2B):c.3367T>C (p.Phe1123Leu) rs1591606392
NM_000834.5(GRIN2B):c.336C>T (p.Leu112=) rs1060504845
NM_000834.5(GRIN2B):c.3378G>A (p.Lys1126=)
NM_000834.5(GRIN2B):c.3383G>A (p.Gly1128Glu) rs769658975
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3389G>T (p.Arg1130Leu) rs148625092
NM_000834.5(GRIN2B):c.3393C>T (p.Asp1131=)
NM_000834.5(GRIN2B):c.3400C>G (p.Leu1134Val) rs979079013
NM_000834.5(GRIN2B):c.3400_3416del (p.Leu1134fs) rs1948591247
NM_000834.5(GRIN2B):c.3407A>C (p.Gln1136Pro)
NM_000834.5(GRIN2B):c.3409T>A (p.Phe1137Ile) rs1060503159
NM_000834.5(GRIN2B):c.3413G>T (p.Arg1138Leu) rs187979330
NM_000834.5(GRIN2B):c.3415A>G (p.Thr1139Ala) rs200237781
NM_000834.5(GRIN2B):c.3416C>A (p.Thr1139Lys) rs1948591192
NM_000834.5(GRIN2B):c.3427T>A (p.Ser1143Thr)
NM_000834.5(GRIN2B):c.3434A>G (p.His1145Arg) rs2136404605
NM_000834.5(GRIN2B):c.3445G>A (p.Val1149Ile)
NM_000834.5(GRIN2B):c.3456C>A (p.Thr1152=) rs752200554
NM_000834.5(GRIN2B):c.3456C>T (p.Thr1152=) rs752200554
NM_000834.5(GRIN2B):c.3457G>A (p.Asp1153Asn)
NM_000834.5(GRIN2B):c.3459C>A (p.Asp1153Glu)
NM_000834.5(GRIN2B):c.3459C>T (p.Asp1153=)
NM_000834.5(GRIN2B):c.3470A>G (p.Glu1157Gly) rs1565453853
NM_000834.5(GRIN2B):c.3472C>T (p.Arg1158Trp)
NM_000834.5(GRIN2B):c.3473G>C (p.Arg1158Pro) rs143955920
NM_000834.5(GRIN2B):c.3473G>T (p.Arg1158Leu) rs143955920
NM_000834.5(GRIN2B):c.3476G>A (p.Ser1159Asn) rs1220848394
NM_000834.5(GRIN2B):c.3476G>C (p.Ser1159Thr)
NM_000834.5(GRIN2B):c.3484T>G (p.Phe1162Val)
NM_000834.5(GRIN2B):c.3486T>C (p.Phe1162=) rs202120141
NM_000834.5(GRIN2B):c.348A>C (p.Ser116=)
NM_000834.5(GRIN2B):c.3491G>A (p.Arg1164His)
NM_000834.5(GRIN2B):c.3495C>T (p.Asp1165=)
NM_000834.5(GRIN2B):c.3497C>G (p.Ser1166Cys)
NM_000834.5(GRIN2B):c.3508G>C (p.Gly1170Arg)
NM_000834.5(GRIN2B):c.3509G>A (p.Gly1170Glu)
NM_000834.5(GRIN2B):c.3512G>A (p.Gly1171Glu) rs1948587537
NM_000834.5(GRIN2B):c.3516C>G (p.Pro1172=) rs2136404402
NM_000834.5(GRIN2B):c.3522C>A (p.Thr1174=)
NM_000834.5(GRIN2B):c.3525C>T (p.Asn1175=) rs1472155608
NM_000834.5(GRIN2B):c.3535A>T (p.Ile1179Phe)
NM_000834.5(GRIN2B):c.3541C>T (p.His1181Tyr) rs2136404295
NM_000834.5(GRIN2B):c.3543C>A (p.His1181Gln) rs866476716
NM_000834.5(GRIN2B):c.3543C>T (p.His1181=)
NM_000834.5(GRIN2B):c.3546G>A (p.Gly1182=)
NM_000834.5(GRIN2B):c.3547A>G (p.Thr1183Ala)
NM_000834.5(GRIN2B):c.3548C>T (p.Thr1183Met) rs2136404253
NM_000834.5(GRIN2B):c.3550G>A (p.Gly1184Ser)
NM_000834.5(GRIN2B):c.3558del (p.Lys1186fs)
NM_000834.5(GRIN2B):c.3561C>T (p.His1187=) rs1300574984
NM_000834.5(GRIN2B):c.3564C>T (p.Gly1188=)
NM_000834.5(GRIN2B):c.3566T>G (p.Val1189Gly)
NM_000834.5(GRIN2B):c.3572G>A (p.Ser1191Asn)
NM_000834.5(GRIN2B):c.3577G>A (p.Val1193Ile) rs201861590
NM_000834.5(GRIN2B):c.3581C>A (p.Pro1194His) rs1424106237
NM_000834.5(GRIN2B):c.3583G>A (p.Ala1195Thr) rs1455731420
NM_000834.5(GRIN2B):c.3597G>C (p.Lys1199Asn)
NM_000834.5(GRIN2B):c.3601C>G (p.Leu1201Val) rs1434222109
NM_000834.5(GRIN2B):c.3612G>A (p.Val1204=) rs2136404080
NM_000834.5(GRIN2B):c.3625C>A (p.Arg1209=) rs1488088518
NM_000834.5(GRIN2B):c.3625C>T (p.Arg1209Trp)
NM_000834.5(GRIN2B):c.3627G>A (p.Arg1209=) rs149089581
NM_000834.5(GRIN2B):c.3629C>G (p.Ser1210Cys)
NM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile)
NM_000834.5(GRIN2B):c.3630C>T (p.Ser1210=)
NM_000834.5(GRIN2B):c.3632G>A (p.Gly1211Glu) rs1255161034
NM_000834.5(GRIN2B):c.3641T>C (p.Phe1214Ser)
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys) rs199834850
NM_000834.5(GRIN2B):c.364C>T (p.Pro122Ser) rs1865817808
NM_000834.5(GRIN2B):c.3669C>G (p.His1223Gln)
NM_000834.5(GRIN2B):c.366C>A (p.Pro122=) rs7301328
NM_000834.5(GRIN2B):c.3673T>A (p.Tyr1225Asn) rs1591605873
NM_000834.5(GRIN2B):c.3678C>A (p.Ser1226=) rs199529555
NM_000834.5(GRIN2B):c.3689C>T (p.Thr1230Met)
NM_000834.5(GRIN2B):c.3690G>C (p.Thr1230=) rs200609066
NM_000834.5(GRIN2B):c.36C>G (p.Phe12Leu)
NM_000834.5(GRIN2B):c.3702G>A (p.Ser1234=) rs753797364
NM_000834.5(GRIN2B):c.3703G>A (p.Gly1235Ser) rs886049099
NM_000834.5(GRIN2B):c.370C>G (p.Leu124Val)
NM_000834.5(GRIN2B):c.3714G>A (p.Ala1238=)
NM_000834.5(GRIN2B):c.3717C>T (p.Cys1239=)
NM_000834.5(GRIN2B):c.3721C>T (p.Arg1241Trp)
NM_000834.5(GRIN2B):c.3722G>A (p.Arg1241Gln) rs2136403871
NM_000834.5(GRIN2B):c.3723G>T (p.Arg1241=)
NM_000834.5(GRIN2B):c.3745G>T (p.Gly1249Cys) rs796052577
NM_000834.5(GRIN2B):c.3750C>T (p.Asn1250=) rs200883120
NM_000834.5(GRIN2B):c.3751C>T (p.Leu1251=) rs200186058
NM_000834.5(GRIN2B):c.3753G>T (p.Leu1251=) rs748973212
NM_000834.5(GRIN2B):c.3759C>T (p.Asp1253=)
NM_000834.5(GRIN2B):c.3764G>C (p.Ser1255Thr) rs1948579945
NM_000834.5(GRIN2B):c.3768G>A (p.Glu1256=)
NM_000834.5(GRIN2B):c.3772A>G (p.Asn1258Asp)
NM_000834.5(GRIN2B):c.3782A>T (p.Gln1261Leu) rs1948579532
NM_000834.5(GRIN2B):c.3787C>G (p.Leu1263Val) rs1378542850
NM_000834.5(GRIN2B):c.3789_3837dup (p.Lys1280delinsGlyProAlaGlyCysProSerGlyGlyAspValLysArgLeuHisHisTer) rs2136403635
NM_000834.5(GRIN2B):c.378C>G (p.Ile126Met) rs2136746897
NM_000834.5(GRIN2B):c.3792C>G (p.Asp1264Glu)
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser) rs199935748
NM_000834.5(GRIN2B):c.3798G>T (p.Pro1266=) rs754079938
NM_000834.5(GRIN2B):c.3799G>A (p.Ala1267Thr) rs141844705
NM_000834.5(GRIN2B):c.3807A>G (p.Pro1269=) rs78765966
NM_000834.5(GRIN2B):c.3815T>G (p.Val1272Gly) rs75642143
NM_000834.5(GRIN2B):c.3819G>A (p.Thr1273=) rs1555101910
NM_000834.5(GRIN2B):c.3819G>T (p.Thr1273=)
NM_000834.5(GRIN2B):c.3822A>T (p.Ser1274=)
NM_000834.5(GRIN2B):c.3825C>T (p.Asn1275=) rs200571186
NM_000834.5(GRIN2B):c.3835A>G (p.Thr1279Ala)
NM_000834.5(GRIN2B):c.3836C>T (p.Thr1279Ile)
NM_000834.5(GRIN2B):c.3839A>C (p.Lys1280Thr)
NM_000834.5(GRIN2B):c.3840G>A (p.Lys1280=)
NM_000834.5(GRIN2B):c.3844C>A (p.Pro1282Thr)
NM_000834.5(GRIN2B):c.384G>C (p.Gly128=) rs2136746889
NM_000834.5(GRIN2B):c.3851G>T (p.Ser1284Ile) rs1948577072
NM_000834.5(GRIN2B):c.3851_3856del (p.Ser1284_Pro1285del)
NM_000834.5(GRIN2B):c.3873G>A (p.Gln1291=)
NM_000834.5(GRIN2B):c.3873GAA[2] (p.Lys1293del)
NM_000834.5(GRIN2B):c.3875A>G (p.Lys1292Arg) rs1948576645
NM_000834.5(GRIN2B):c.3883C>A (p.Arg1295=)
NM_000834.5(GRIN2B):c.3886A>C (p.Asn1296His) rs1555101871
NM_000834.5(GRIN2B):c.3893T>C (p.Leu1298Pro) rs876661100
NM_000834.5(GRIN2B):c.3896G>A (p.Arg1299His)
NM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu) rs765133670
NM_000834.5(GRIN2B):c.3902A>G (p.Gln1301Arg)
NM_000834.5(GRIN2B):c.3912C>T (p.Tyr1304=) rs1407009840
NM_000834.5(GRIN2B):c.3916A>T (p.Thr1306Ser)
NM_000834.5(GRIN2B):c.3920T>C (p.Phe1307Ser) rs1948575540
NM_000834.5(GRIN2B):c.392C>T (p.Ser131Phe)
NM_000834.5(GRIN2B):c.393T>C (p.Ser131=) rs1591774189
NM_000834.5(GRIN2B):c.3943G>A (p.Ala1315Thr)
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val) rs1591605514
NM_000834.5(GRIN2B):c.3946G>T (p.Ala1316Ser)
NM_000834.5(GRIN2B):c.3948C>T (p.Ala1316=) rs1948574967
NM_000834.5(GRIN2B):c.3950T>C (p.Leu1317Pro) rs2136403363
NM_000834.5(GRIN2B):c.3951G>C (p.Leu1317=)
NM_000834.5(GRIN2B):c.3963C>T (p.Ser1321=)
NM_000834.5(GRIN2B):c.3964G>T (p.Val1322Leu)
NM_000834.5(GRIN2B):c.3966A>G (p.Val1322=) rs1555101821
NM_000834.5(GRIN2B):c.3968G>A (p.Ser1323Asn)
NM_000834.5(GRIN2B):c.3969C>T (p.Ser1323=) rs1591605471
NM_000834.5(GRIN2B):c.3970C>T (p.Leu1324=)
NM_000834.5(GRIN2B):c.3978C>T (p.Asp1326=)
NM_000834.5(GRIN2B):c.397A>G (p.Ile133Val)
NM_000834.5(GRIN2B):c.3980A>G (p.Lys1327Arg) rs780293991
NM_000834.5(GRIN2B):c.3990C>T (p.Phe1330=) rs1225505219
NM_000834.5(GRIN2B):c.3991A>C (p.Met1331Leu) rs1338505023
NM_000834.5(GRIN2B):c.3994G>A (p.Asp1332Asn)
NM_000834.5(GRIN2B):c.4001G>A (p.Ser1334Asn)
NM_000834.5(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000834.5(GRIN2B):c.4016T>G (p.Met1339Arg) rs2136403185
NM_000834.5(GRIN2B):c.4021G>A (p.Glu1341Lys)
NM_000834.5(GRIN2B):c.4021G>C (p.Glu1341Gln)
NM_000834.5(GRIN2B):c.4023G>A (p.Glu1341=)
NM_000834.5(GRIN2B):c.4028C>T (p.Ser1343Leu)
NM_000834.5(GRIN2B):c.4031C>T (p.Ala1344Val) rs759438353
NM_000834.5(GRIN2B):c.4036G>A (p.Glu1346Lys) rs766060662
NM_000834.5(GRIN2B):c.4038G>A (p.Glu1346=) rs201214704
NM_000834.5(GRIN2B):c.4050C>T (p.Ala1350=)
NM_000834.5(GRIN2B):c.4050CAA[2] (p.Asn1352del) rs761812510
NM_000834.5(GRIN2B):c.4053C>A (p.Asn1351Lys)
NM_000834.5(GRIN2B):c.4053C>T (p.Asn1351=)
NM_000834.5(GRIN2B):c.4056C>A (p.Asn1352Lys)
NM_000834.5(GRIN2B):c.4064C>T (p.Ser1355Leu)
NM_000834.5(GRIN2B):c.4071C>T (p.Pro1357=) rs2136403023
NM_000834.5(GRIN2B):c.4075G>T (p.Ala1359Ser) rs2136403015
NM_000834.5(GRIN2B):c.4084CAC[2] (p.His1364del) rs1214837315
NM_000834.5(GRIN2B):c.4093A>G (p.Asn1365Asp)
NM_000834.5(GRIN2B):c.4093AAC[1] (p.Asn1366del) rs1948572064
NM_000834.5(GRIN2B):c.40T>C (p.Leu14=) rs1248811502
NM_000834.5(GRIN2B):c.4101C>G (p.Pro1367=) rs112932810
NM_000834.5(GRIN2B):c.4102G>T (p.Gly1368Cys)
NM_000834.5(GRIN2B):c.4104C>A (p.Gly1368=) rs200021190
NM_000834.5(GRIN2B):c.4104C>T (p.Gly1368=) rs200021190
NM_000834.5(GRIN2B):c.4107C>G (p.Gly1369=)
NM_000834.5(GRIN2B):c.411+17G>C rs2136746854
NM_000834.5(GRIN2B):c.411+8G>A
NM_000834.5(GRIN2B):c.4114A>G (p.Met1372Val)
NM_000834.5(GRIN2B):c.4115T>C (p.Met1372Thr)
NM_000834.5(GRIN2B):c.412-15C>G rs1293031702
NM_000834.5(GRIN2B):c.412-2A>G rs2136629609
NM_000834.5(GRIN2B):c.412-5del rs1591712751
NM_000834.5(GRIN2B):c.412-6T>C
NM_000834.5(GRIN2B):c.4122C>A (p.Ser1374Arg)
NM_000834.5(GRIN2B):c.4139A>C (p.Asp1380Ala)
NM_000834.5(GRIN2B):c.4140C>T (p.Asp1380=)
NM_000834.5(GRIN2B):c.4141C>A (p.Arg1381=)
NM_000834.5(GRIN2B):c.414T>C (p.Asp138=)
NM_000834.5(GRIN2B):c.4155C>T (p.Asn1385=)
NM_000834.5(GRIN2B):c.4158T>C (p.Pro1386=)
NM_000834.5(GRIN2B):c.4162A>G (p.Ile1388Val)
NM_000834.5(GRIN2B):c.4172T>C (p.Phe1391Ser) rs1948570623
NM_000834.5(GRIN2B):c.4185G>T (p.Gln1395His)
NM_000834.5(GRIN2B):c.418T>A (p.Ser140Thr)
NM_000834.5(GRIN2B):c.4196A>G (p.His1399Arg) rs1565452791
NM_000834.5(GRIN2B):c.4203C>T (p.Ser1401=) rs772027875
NM_000834.5(GRIN2B):c.4205A>C (p.Lys1402Thr)
NM_000834.5(GRIN2B):c.4208C>G (p.Ser1403Cys)
NM_000834.5(GRIN2B):c.4209C>G (p.Ser1403=)
NM_000834.5(GRIN2B):c.4220G>A (p.Arg1407Lys)
NM_000834.5(GRIN2B):c.4229C>G (p.Thr1410Arg) rs779830552
NM_000834.5(GRIN2B):c.4230G>C (p.Thr1410=) rs149655315
NM_000834.5(GRIN2B):c.4236G>A (p.Ala1412=)
NM_000834.5(GRIN2B):c.4239G>T (p.Gly1413=)
NM_000834.5(GRIN2B):c.423C>T (p.Ser141=) rs745829995
NM_000834.5(GRIN2B):c.4240G>A (p.Ala1414Thr) rs140744818
NM_000834.5(GRIN2B):c.4245G>T (p.Ser1415=) rs150956675
NM_000834.5(GRIN2B):c.4249G>T (p.Ala1417Ser)
NM_000834.5(GRIN2B):c.4250C>G (p.Ala1417Gly)
NM_000834.5(GRIN2B):c.4250C>T (p.Ala1417Val)
NM_000834.5(GRIN2B):c.4254G>A (p.Arg1418=)
NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)
NM_000834.5(GRIN2B):c.4259A>G (p.Asp1420Gly)
NM_000834.5(GRIN2B):c.4264C>G (p.Arg1422Gly)
NM_000834.5(GRIN2B):c.4264C>T (p.Arg1422Trp)
NM_000834.5(GRIN2B):c.4268C>T (p.Ala1423Val) rs1948568535
NM_000834.5(GRIN2B):c.4269C>T (p.Ala1423=) rs1565452665
NM_000834.5(GRIN2B):c.4287G>A (p.Pro1429=) rs146235271
NM_000834.5(GRIN2B):c.4289T>C (p.Val1430Ala)
NM_000834.5(GRIN2B):c.4295C>T (p.Ser1432Leu)
NM_000834.5(GRIN2B):c.4296G>A (p.Ser1432=) rs755880051
NM_000834.5(GRIN2B):c.4296_4297inv (p.Ala1433Pro)
NM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=)
NM_000834.5(GRIN2B):c.429C>T (p.Phe143=) rs868689428
NM_000834.5(GRIN2B):c.4300C>T (p.Leu1434Phe) rs1002108827
NM_000834.5(GRIN2B):c.4304dup (p.His1435fs)
NM_000834.5(GRIN2B):c.4305T>C (p.His1435=)
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000834.5(GRIN2B):c.4309_4310delinsAT (p.Ala1437Ile) rs1591604894
NM_000834.5(GRIN2B):c.4310C>T (p.Ala1437Val) rs1948567394
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_000834.5(GRIN2B):c.4314G>A (p.Val1438=) rs1384732217
NM_000834.5(GRIN2B):c.4318G>T (p.Ala1440Ser)
NM_000834.5(GRIN2B):c.4323T>C (p.Arg1441=) rs2136402416
NM_000834.5(GRIN2B):c.4326C>G (p.Phe1442Leu) rs1565452565
NM_000834.5(GRIN2B):c.4326C>T (p.Phe1442=)
NM_000834.5(GRIN2B):c.4329G>A (p.Gln1443=)
NM_000834.5(GRIN2B):c.4330_4332del (p.Lys1444del)
NM_000834.5(GRIN2B):c.4337T>A (p.Ile1446Asn)
NM_000834.5(GRIN2B):c.4359C>A (p.Asn1453Lys)
NM_000834.5(GRIN2B):c.4385C>A (p.Pro1462His)
NM_000834.5(GRIN2B):c.4390G>C (p.Ala1464Pro) rs1168549804
NM_000834.5(GRIN2B):c.4399G>A (p.Gly1467Ser)
NM_000834.5(GRIN2B):c.4402T>C (p.Ser1468Pro)
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn) rs202133231
NM_000834.5(GRIN2B):c.4416T>C (p.His1472=)
NM_000834.5(GRIN2B):c.4416T>G (p.His1472Gln) rs1555101497
NM_000834.5(GRIN2B):c.4421A>G (p.Tyr1474Cys) rs2136402179
NM_000834.5(GRIN2B):c.4432T>C (p.Ser1478Pro) rs910793751
NM_000834.5(GRIN2B):c.4437del (p.Ser1479fs) rs1948563428
NM_000834.5(GRIN2B):c.4446T>C (p.Ser1482=)
NM_000834.5(GRIN2B):c.444A>G (p.Pro148=) rs200658883
NM_000834.5(GRIN2B):c.4455A>C (p.Ter1485Cys)
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val) rs796052570
NM_000834.5(GRIN2B):c.465C>A (p.Ser155=) rs115189840
NM_000834.5(GRIN2B):c.465C>T (p.Ser155=) rs115189840
NM_000834.5(GRIN2B):c.466G>A (p.Val156Ile) rs1555133189
NM_000834.5(GRIN2B):c.476A>G (p.Asn159Ser)
NM_000834.5(GRIN2B):c.478A>T (p.Ile160Phe)
NM_000834.5(GRIN2B):c.495C>T (p.Asp165=)
NM_000834.5(GRIN2B):c.501C>T (p.Tyr167=)
NM_000834.5(GRIN2B):c.511A>G (p.Ile171Val)
NM_000834.5(GRIN2B):c.511A>T (p.Ile171Phe)
NM_000834.5(GRIN2B):c.533G>A (p.Gly178Asp)
NM_000834.5(GRIN2B):c.537C>T (p.Tyr179=)
NM_000834.5(GRIN2B):c.540G>A (p.Gln180=) rs1057523105
NM_000834.5(GRIN2B):c.542A>G (p.Asp181Gly) rs1060503161
NM_000834.5(GRIN2B):c.544T>C (p.Phe182Leu)
NM_000834.5(GRIN2B):c.573G>A (p.Glu191=)
NM_000834.5(GRIN2B):c.588C>G (p.Gly196=)
NM_000834.5(GRIN2B):c.595C>T (p.Leu199=)
NM_000834.5(GRIN2B):c.5A>C (p.Lys2Thr) rs2136747631
NM_000834.5(GRIN2B):c.603G>A (p.Glu201=)
NM_000834.5(GRIN2B):c.610C>T (p.Leu204=) rs2136629371
NM_000834.5(GRIN2B):c.615G>A (p.Leu205=)
NM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe)
NM_000834.5(GRIN2B):c.627G>A (p.Leu209=)
NM_000834.5(GRIN2B):c.63_64delinsTG (p.Ser22Ala) rs2136747439
NM_000834.5(GRIN2B):c.66A>G (p.Ser22=)
NM_000834.5(GRIN2B):c.66A>T (p.Ser22=) rs1591774566
NM_000834.5(GRIN2B):c.672A>G (p.Gln224=) rs2136629283
NM_000834.5(GRIN2B):c.674G>A (p.Ser225Asn) rs1060503158
NM_000834.5(GRIN2B):c.675C>T (p.Ser225=)
NM_000834.5(GRIN2B):c.681C>T (p.Ile227=)
NM_000834.5(GRIN2B):c.689T>C (p.Leu230Pro)
NM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg)
NM_000834.5(GRIN2B):c.699C>T (p.Thr233=)
NM_000834.5(GRIN2B):c.69C>G (p.Gly23=)
NM_000834.5(GRIN2B):c.711C>T (p.Ala237=)
NM_000834.5(GRIN2B):c.718A>G (p.Ile240Val) rs2136629212
NM_000834.5(GRIN2B):c.72C>T (p.Ser24=)
NM_000834.5(GRIN2B):c.731C>T (p.Ala244Val)
NM_000834.5(GRIN2B):c.741A>G (p.Val247=) rs2136629162
NM_000834.5(GRIN2B):c.748A>T (p.Thr250Ser) rs2136629146
NM_000834.5(GRIN2B):c.764C>T (p.Thr255Met) rs748054907
NM_000834.5(GRIN2B):c.76G>A (p.Ala26Thr) rs79962661
NM_000834.5(GRIN2B):c.77C>T (p.Ala26Val)
NM_000834.5(GRIN2B):c.802A>C (p.Thr268Pro) rs921044614
NM_000834.5(GRIN2B):c.807G>A (p.Val269=) rs61754644
NM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu) rs200727145
NM_000834.5(GRIN2B):c.812C>A (p.Ala271Glu) rs138098032
NM_000834.5(GRIN2B):c.813G>A (p.Ala271=) rs201732785
NM_000834.5(GRIN2B):c.822C>T (p.Pro274=) rs1863524208
NM_000834.5(GRIN2B):c.841T>A (p.Ser281Thr) rs1085307651
NM_000834.5(GRIN2B):c.843A>G (p.Ser281=) rs201585449
NM_000834.5(GRIN2B):c.846T>C (p.Tyr282=) rs1208230861
NM_000834.5(GRIN2B):c.856G>C (p.Asp286His)
NM_000834.5(GRIN2B):c.861T>C (p.Tyr287=)
NM_000834.5(GRIN2B):c.862G>C (p.Gly288Arg)
NM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser) rs1863522709
NM_000834.5(GRIN2B):c.870C>A (p.Pro290=)
NM_000834.5(GRIN2B):c.876A>G (p.Arg292=) rs876661173
NM_000834.5(GRIN2B):c.877G>A (p.Val293Met)
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
NM_000834.5(GRIN2B):c.90G>A (p.Lys30=)
NM_000834.5(GRIN2B):c.920T>G (p.Met307Arg) rs2136628922
NM_000834.5(GRIN2B):c.923T>C (p.Leu308Pro) rs1565524674
NM_000834.5(GRIN2B):c.927T>C (p.Ser309=)
NM_000834.5(GRIN2B):c.92G>C (p.Ser31Thr) rs746004289
NM_000834.5(GRIN2B):c.930G>T (p.Glu310Asp)
NM_000834.5(GRIN2B):c.942C>T (p.Ile314=) rs1476421998
NM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr)
NM_000834.5(GRIN2B):c.94C>T (p.Pro32Ser) rs1383833874
NM_000834.5(GRIN2B):c.951C>T (p.Pro317=) rs1410392494
NM_000834.5(GRIN2B):c.958A>G (p.Ser320Gly) rs1863520117
NM_000834.5(GRIN2B):c.959G>C (p.Ser320Thr) rs931791422
NM_000834.5(GRIN2B):c.95C>A (p.Pro32His)
NM_000834.5(GRIN2B):c.963T>C (p.Cys321=) rs1555132954
NM_000834.5(GRIN2B):c.96C>T (p.Pro32=) rs374173060
NM_000834.5(GRIN2B):c.973C>T (p.His325Tyr)
NM_000834.5(GRIN2B):c.981G>A (p.Lys327=) rs1863519417
NM_000834.5(GRIN2B):c.982A>C (p.Arg328=)
NM_000834.5(GRIN2B):c.992A>C (p.Gln331Pro)
NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg) rs1555132930
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001037343.1:c.100-?_744+?dup
NM_001037343.2(CDKL5):c.2787del (p.Glu930fs)
NM_001037343.2(CDKL5):c.3034del (p.Gln1012fs)
NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val) rs2105255913
NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys) rs1553568990
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp) rs2105373027
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val) rs796053135
NM_001040142.2(SCN2A):c.4364T>A (p.Ile1455Asn) rs2105384629
NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr) rs2105385811
NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile) rs2105385886
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr) rs2105398463
NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile) rs1702008323
NM_001040142.2(SCN2A):c.5144G>T (p.Gly1715Val) rs1702015681
NM_001040142.2(SCN2A):c.5198del (p.Pro1733fs) rs2105402711
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg) rs2105403389
NM_001040142.2(SCN2A):c.5640A>C (p.Glu1880Asp) rs2105403544
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro) rs1057517854
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr) rs1553567561
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser) rs2105247122
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.807G>T (p.Leu269Phe) rs2105247416
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.121G>T (p.Glu41Ter)
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp) rs1589203624
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu) rs1455085342
NM_001130438.3(SPTAN1):c.1462-2A>G
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys) rs79650677
NM_001130438.3(SPTAN1):c.1649del (p.Ala550fs)
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln) rs587784432
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr) rs2131129868
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2012-3T>C
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=) rs587784433
NM_001130438.3(SPTAN1):c.2158C>G (p.His720Asp)
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter) rs1852298912
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser) rs766491965
NM_001130438.3(SPTAN1):c.2438-13T>G rs587784434
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs) rs1852530020
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser) rs587784435
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe) rs1852827656
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
NM_001130438.3(SPTAN1):c.3007-2A>G
NM_001130438.3(SPTAN1):c.3014G>A (p.Trp1005Ter)
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg) rs150793549
NM_001130438.3(SPTAN1):c.3156-4G>A rs549061995
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) rs764844675
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3504G>C (p.Gln1168His)
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3626A>C (p.Lys1209Thr)
NM_001130438.3(SPTAN1):c.364-3C>G rs1851102695
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn) rs1855652617
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)
NM_001130438.3(SPTAN1):c.3886G>A (p.Ala1296Thr)
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr) rs1048236
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro) rs1856116625
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn) rs1856146384
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu) rs1589311413
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=) rs570247500
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln) rs1856289676
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr) rs776999454
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) rs1564286708
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter) rs1856640613
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu) rs2131682815
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile) rs1129924
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met) rs2131703648
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp) rs1232614751
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp) rs2130975930
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) rs146418243
NM_001130438.3(SPTAN1):c.5392G>T (p.Gly1798Cys) rs756006714
NM_001130438.3(SPTAN1):c.5459C>T (p.Ala1820Val)
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
NM_001130438.3(SPTAN1):c.5768dup (p.Asp1923fs)
NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly) rs772780483
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly) rs11543346
NM_001130438.3(SPTAN1):c.6016A>T (p.Thr2006Ser)
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg) rs2131953509
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln) rs755273355
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys) rs780696613
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser) rs1589389281
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup) rs1589393179
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln) rs1858936991
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del) rs2131985621
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.6690-17G>A rs1554767335
NM_001130438.3(SPTAN1):c.6763-6C>A rs543227930
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del) rs2132088836
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met) rs2132089093
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del) rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr) rs767301092
NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001130438.3(SPTAN1):c.7174T>G (p.Ser2392Ala)
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys) rs1860016560
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter) rs2132957934
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln) rs1850091477
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val) rs2131012797
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro) rs1851427709
NM_001130438.3:c.(?_1225)_(1572_?)del
NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)
NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile)
NM_001164664.2(MAST4):c.7655C>G (p.Ser2552Trp)
NM_001165963.4(SCN1A):c.3625A>T (p.Arg1209Trp) rs2105610731
NM_001323289.2(CDKL5):c.-162-2A>G rs786204973
NM_001323289.2(CDKL5):c.100-20C>T
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.100-3C>G rs2147132216
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) rs786204964
NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)
NM_001323289.2(CDKL5):c.1011T>C (p.Ser337=)
NM_001323289.2(CDKL5):c.1011dup (p.His338fs) rs2147160162
NM_001323289.2(CDKL5):c.1012C>T (p.His338Tyr)
NM_001323289.2(CDKL5):c.1033G>A (p.Asp345Asn)
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_001323289.2(CDKL5):c.103A>C (p.Thr35Pro) rs1924898828
NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)
NM_001323289.2(CDKL5):c.1049G>A (p.Ser350Asn)
NM_001323289.2(CDKL5):c.1053_1056dup (p.Leu353fs) rs2147160237
NM_001323289.2(CDKL5):c.105A>G (p.Thr35=)
NM_001323289.2(CDKL5):c.1062C>T (p.Pro354=)
NM_001323289.2(CDKL5):c.1065G>A (p.Arg355=)
NM_001323289.2(CDKL5):c.1066dup (p.Ala356fs) rs2147160283
NM_001323289.2(CDKL5):c.106_107del (p.Thr35_His36insTer) rs2147132223
NM_001323289.2(CDKL5):c.1075G>A (p.Gly359Ser)
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) rs267608565
NM_001323289.2(CDKL5):c.1082del (p.Pro361fs)
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln) rs2147132235
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) rs1926261579
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
NM_001323289.2(CDKL5):c.1103dup (p.Asn368fs) rs1926262196
NM_001323289.2(CDKL5):c.1106G>A (p.Gly369Glu)
NM_001323289.2(CDKL5):c.1106del (p.Gly369fs)
NM_001323289.2(CDKL5):c.1136T>G (p.Leu379Arg)
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001323289.2(CDKL5):c.1152C>T (p.Tyr384=)
NM_001323289.2(CDKL5):c.1164C>T (p.Ser388=)
NM_001323289.2(CDKL5):c.1166A>T (p.Gln389Leu)
NM_001323289.2(CDKL5):c.1166_1169del (p.Gln389fs)
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly) rs1924899673
NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)
NM_001323289.2(CDKL5):c.1188T>A (p.Asp396Glu)
NM_001323289.2(CDKL5):c.1196A>G (p.Asn399Ser) rs267608611
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1208del (p.Pro403fs)
NM_001323289.2(CDKL5):c.1209A>G (p.Pro403=)
NM_001323289.2(CDKL5):c.120G>C (p.Ala40=)
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1213CTT[1] (p.Leu406del) rs759725174
NM_001323289.2(CDKL5):c.1230A>T (p.Glu410Asp)
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1242A>G (p.Lys414=)
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_001323289.2(CDKL5):c.1272G>A (p.Lys424=) rs1926270928
NM_001323289.2(CDKL5):c.1273C>T (p.Pro425Ser) rs1926271094
NM_001323289.2(CDKL5):c.1287A>G (p.Pro429=) rs2147160563
NM_001323289.2(CDKL5):c.1287dup (p.Gly430fs)
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
NM_001323289.2(CDKL5):c.1291A>G (p.Thr431Ala)
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.1297T>C (p.Tyr433His)
NM_001323289.2(CDKL5):c.1311C>T (p.Asn437=)
NM_001323289.2(CDKL5):c.1314C>A (p.Ser438Arg)
NM_001323289.2(CDKL5):c.1317A>G (p.Arg439=) rs2147160587
NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)
NM_001323289.2(CDKL5):c.1328A>T (p.Asn443Ile)
NM_001323289.2(CDKL5):c.1330_1342del (p.Arg444fs)
NM_001323289.2(CDKL5):c.1337C>G (p.Ser446Ter)
NM_001323289.2(CDKL5):c.1339T>C (p.Phe447Leu)
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.135G>T (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_001323289.2(CDKL5):c.1377G>A (p.Gln459=) rs2147160664
NM_001323289.2(CDKL5):c.1382A>G (p.Asn461Ser) rs267608629
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile) rs267608629
NM_001323289.2(CDKL5):c.1387A>G (p.Lys463Glu)
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1404C>G (p.Ser468Arg) rs1926278693
NM_001323289.2(CDKL5):c.1413C>T (p.Asp471=) rs2147160714
NM_001323289.2(CDKL5):c.1414A>G (p.Thr472Ala)
NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs) rs2147160726
NM_001323289.2(CDKL5):c.1425G>A (p.Gln475=)
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.1442C>G (p.Ser481Cys)
NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer) rs2147160749
NM_001323289.2(CDKL5):c.145+17_145+42del rs1305984337
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.145+4_145+5dup rs776844003
NM_001323289.2(CDKL5):c.145+5AT[10] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[14] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[15] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[6] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[8]
NM_001323289.2(CDKL5):c.145+5AT[9]
NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.146-14T>G
NM_001323289.2(CDKL5):c.146-15T>C
NM_001323289.2(CDKL5):c.146-16A>G
NM_001323289.2(CDKL5):c.146-18_146-16del
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.146-1G>T
NM_001323289.2(CDKL5):c.146-2A>C rs2147139522
NM_001323289.2(CDKL5):c.146-7A>G
NM_001323289.2(CDKL5):c.146-8C>T
NM_001323289.2(CDKL5):c.1463G>C (p.Ser488Thr)
NM_001323289.2(CDKL5):c.1464_1488del (p.His489fs)
NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)
NM_001323289.2(CDKL5):c.1477A>T (p.Ser493Cys) rs2147160801
NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs) rs1926283743
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter) rs1926283887
NM_001323289.2(CDKL5):c.1506dup (p.Glu503Ter)
NM_001323289.2(CDKL5):c.1515G>A (p.Arg505=)
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.1540A>G (p.Ser514Gly)
NM_001323289.2(CDKL5):c.1542T>C (p.Ser514=)
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter) rs1925261282
NM_001323289.2(CDKL5):c.1552C>T (p.Pro518Ser)
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
NM_001323289.2(CDKL5):c.1554A>G (p.Pro518=)
NM_001323289.2(CDKL5):c.1580C>T (p.Pro527Leu) rs748615147
NM_001323289.2(CDKL5):c.1584dup (p.Ser529fs) rs2147160886
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1592C>T (p.Thr531Ile)
NM_001323289.2(CDKL5):c.1596C>T (p.Pro532=)
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_001323289.2(CDKL5):c.1602A>C (p.Arg534Ser) rs1385183228
NM_001323289.2(CDKL5):c.1613C>A (p.Thr538Lys)
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs) rs2147160942
NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1640G>A (p.Arg547Lys)
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1657G>A (p.Gly553Arg)
NM_001323289.2(CDKL5):c.1667A>G (p.Asp556Gly) rs2147160978
NM_001323289.2(CDKL5):c.1669T>C (p.Ser557Pro)
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_001323289.2(CDKL5):c.1686del (p.Arg563fs) rs2147161009
NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)
NM_001323289.2(CDKL5):c.1689A>T (p.Arg563Ser) rs2147161018
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.16A>G (p.Ile6Val)
NM_001323289.2(CDKL5):c.1700C>T (p.Thr567Met)
NM_001323289.2(CDKL5):c.1701G>T (p.Thr567=) rs751738489
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
NM_001323289.2(CDKL5):c.1713G>A (p.Leu571=)
NM_001323289.2(CDKL5):c.1721C>A (p.Pro574Gln) rs199897804
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)
NM_001323289.2(CDKL5):c.1741del (p.His581fs)
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1744del (p.Ser582fs)
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe) rs1378912528
NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs) rs1926298521
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs) rs1926298368
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1766A>G (p.His589Arg) rs2147161126
NM_001323289.2(CDKL5):c.1767C>A (p.His589Gln)
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.1772C>A (p.Ser591Tyr)
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln) rs1925262394
NM_001323289.2(CDKL5):c.1790del (p.Gly597fs)
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_001323289.2(CDKL5):c.1799G>T (p.Ser600Ile) rs2147161196
NM_001323289.2(CDKL5):c.179A>G (p.Glu60Gly)
NM_001323289.2(CDKL5):c.17T>C (p.Ile6Thr)
NM_001323289.2(CDKL5):c.1800C>T (p.Ser600=)
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.1815G>A (p.Gln605=)
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.1821T>C (p.Arg607=)
NM_001323289.2(CDKL5):c.1837A>G (p.Met613Val)
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs) rs1926303951
NM_001323289.2(CDKL5):c.1866C>T (p.Ala622=)
NM_001323289.2(CDKL5):c.1874T>G (p.Leu625Trp)
NM_001323289.2(CDKL5):c.1883G>A (p.Ser628Asn) rs2147161274
NM_001323289.2(CDKL5):c.1883del (p.Ser628fs) rs1926305134
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
NM_001323289.2(CDKL5):c.1890C>T (p.Ser630=) rs2147161290
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1896del (p.Gln633fs) rs2147161299
NM_001323289.2(CDKL5):c.1906G>T (p.Ala636Ser)
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile) rs1602287027
NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter) rs2147161353
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1944+15C>G
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.1945-8A>C rs2147164149
NM_001323289.2(CDKL5):c.1947T>C (p.Pro649=) rs2147164157
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg) rs1602289171
NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro) rs267608436
NM_001323289.2(CDKL5):c.1952A>G (p.Glu651Gly)
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)
NM_001323289.2(CDKL5):c.1969A>G (p.Met657Val)
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.1980A>G (p.Ala660=)
NM_001323289.2(CDKL5):c.1982G>T (p.Arg661Ile)
NM_001323289.2(CDKL5):c.1988C>T (p.Ser663Leu)
NM_001323289.2(CDKL5):c.1989G>A (p.Ser663=) rs1156694391
NM_001323289.2(CDKL5):c.1994_1997del (p.Lys665fs)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2009_2012dup (p.Thr672fs)
NM_001323289.2(CDKL5):c.200_201del (p.Leu67fs) rs1555949011
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2016C>T (p.Thr672=)
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2026del (p.His676fs) rs1926450614
NM_001323289.2(CDKL5):c.2027A>G (p.His676Arg)
NM_001323289.2(CDKL5):c.2032C>T (p.Arg678Cys)
NM_001323289.2(CDKL5):c.2034C>T (p.Arg678=)
NM_001323289.2(CDKL5):c.2037G>A (p.Gln679=)
NM_001323289.2(CDKL5):c.2040G>A (p.Lys680=) rs761995288
NM_001323289.2(CDKL5):c.2046+10A>G
NM_001323289.2(CDKL5):c.2046+11A>G rs111749777
NM_001323289.2(CDKL5):c.2046+19T>C
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2047-15T>A
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2047-2A>C rs1926471092
NM_001323289.2(CDKL5):c.2047-5C>T
NM_001323289.2(CDKL5):c.2048G>A (p.Gly683Asp)
NM_001323289.2(CDKL5):c.2053G>A (p.Val685Met)
NM_001323289.2(CDKL5):c.2057A>T (p.Tyr686Phe) rs2047709269
NM_001323289.2(CDKL5):c.2061T>C (p.His687=)
NM_001323289.2(CDKL5):c.2066C>T (p.Pro689Leu) rs1326292288
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_001323289.2(CDKL5):c.206A>C (p.Gln69Pro)
NM_001323289.2(CDKL5):c.2070C>G (p.His690Gln) rs2147164673
NM_001323289.2(CDKL5):c.2072_2073del (p.His690_Ser691insTer) rs2147164676
NM_001323289.2(CDKL5):c.2074G>A (p.Asp692Asn) rs2147164679
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_001323289.2(CDKL5):c.2083A>G (p.Thr695Ala)
NM_001323289.2(CDKL5):c.2085A>G (p.Thr695=) rs2147164693
NM_001323289.2(CDKL5):c.2089C>G (p.Pro697Ala)
NM_001323289.2(CDKL5):c.2091del (p.Glu699fs)
NM_001323289.2(CDKL5):c.2099A>G (p.Asn700Ser)
NM_001323289.2(CDKL5):c.2103A>G (p.Arg701=)
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs) rs786204978
NM_001323289.2(CDKL5):c.2106C>T (p.His702=) rs1057520416
NM_001323289.2(CDKL5):c.2111A>G (p.Tyr704Cys)
NM_001323289.2(CDKL5):c.2120C>G (p.Pro707Arg)
NM_001323289.2(CDKL5):c.2121T>C (p.Pro707=)
NM_001323289.2(CDKL5):c.2129G>A (p.Arg710Lys)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.2135T>C (p.Val712Ala) rs1926475375
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2152+10C>T rs763466606
NM_001323289.2(CDKL5):c.2152+16G>A
NM_001323289.2(CDKL5):c.2152+18A>G
NM_001323289.2(CDKL5):c.2152+1G>C
NM_001323289.2(CDKL5):c.2152+1G>T
NM_001323289.2(CDKL5):c.2152+2T>G
NM_001323289.2(CDKL5):c.2152+5G>T rs1926476615
NM_001323289.2(CDKL5):c.2152+9A>T
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_001323289.2(CDKL5):c.2153-10C>A
NM_001323289.2(CDKL5):c.2153-10C>G
NM_001323289.2(CDKL5):c.2153-16C>A
NM_001323289.2(CDKL5):c.2153-17A>C
NM_001323289.2(CDKL5):c.2153-18T>G
NM_001323289.2(CDKL5):c.2153-20C>A
NM_001323289.2(CDKL5):c.2153-64_2153-5delinsG rs1926607521
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2164C>T (p.Arg722Cys)
NM_001323289.2(CDKL5):c.2167C>T (p.Pro723Ser) rs2147167531
NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)
NM_001323289.2(CDKL5):c.2171A>G (p.Asp724Gly)
NM_001323289.2(CDKL5):c.2171A>T (p.Asp724Val) rs1926616572
NM_001323289.2(CDKL5):c.217G>A (p.Val73Met) rs2147139605
NM_001323289.2(CDKL5):c.2180T>C (p.Phe727Ser)
NM_001323289.2(CDKL5):c.2182del (p.His728fs) rs1926616715
NM_001323289.2(CDKL5):c.2193T>C (p.Asn731=)
NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu) rs1926617510
NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs) rs1926617807
NM_001323289.2(CDKL5):c.21T>C (p.Gly7=) rs1922604912
NM_001323289.2(CDKL5):c.2201_2204dup (p.Arg735delinsSerTer) rs2147167570
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=) rs1602292116
NM_001323289.2(CDKL5):c.2218C>G (p.Pro740Ala)
NM_001323289.2(CDKL5):c.2219C>T (p.Pro740Leu) rs2147167595
NM_001323289.2(CDKL5):c.2227_2228del (p.Ser743fs) rs2147167604
NM_001323289.2(CDKL5):c.222G>A (p.Glu74=)
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) rs1926619731
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr) rs748459878
NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)
NM_001323289.2(CDKL5):c.2255_2259dup (p.Pro754fs)
NM_001323289.2(CDKL5):c.2256_2263del (p.Arg752fs) rs1926620965
NM_001323289.2(CDKL5):c.2268C>T (p.Phe756=)
NM_001323289.2(CDKL5):c.2276+18T>C
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.2276+1G>T
NM_001323289.2(CDKL5):c.2277-13T>A rs1413641177
NM_001323289.2(CDKL5):c.2277-13T>C
NM_001323289.2(CDKL5):c.2277-2A>G rs786204979
NM_001323289.2(CDKL5):c.2277-8T>C
NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)
NM_001323289.2(CDKL5):c.2296A>T (p.Ser766Cys)
NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs) rs267608441
NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup) rs1555954068
NM_001323289.2(CDKL5):c.2310A>T (p.Gln770His) rs2147172236
NM_001323289.2(CDKL5):c.2319A>G (p.Glu773=)
NM_001323289.2(CDKL5):c.231A>G (p.Glu77=) rs1602269399
NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs) rs267608654
NM_001323289.2(CDKL5):c.2325_2326dup (p.Lys776fs)
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs) rs1602295727
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.234A>G (p.Ala78=) rs1288226865
NM_001323289.2(CDKL5):c.2354A>C (p.Lys785Thr)
NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs) rs1926837956
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) rs267608655
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser) rs2147139630
NM_001323289.2(CDKL5):c.2371C>G (p.Gln791Glu)
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter) rs1926838663
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs) rs1602295779
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2376+11G>T
NM_001323289.2(CDKL5):c.2376+18T>A
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2376+2T>A
NM_001323289.2(CDKL5):c.2376+4dup rs34335533
NM_001323289.2(CDKL5):c.2376+9A>G
NM_001323289.2(CDKL5):c.2377-18G>C
NM_001323289.2(CDKL5):c.2377-4C>G
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.2387C>G (p.Ser796Cys)
NM_001323289.2(CDKL5):c.2389G>C (p.Asp797His) rs140313320
NM_001323289.2(CDKL5):c.2393G>A (p.Ser798Asn)
NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.241C>G (p.Arg81Gly) rs1925266779
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg) rs1602298609
NM_001323289.2(CDKL5):c.2437A>G (p.Thr813Ala) rs1927002061
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_001323289.2(CDKL5):c.2463del (p.Trp821fs) rs2147175902
NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)
NM_001323289.2(CDKL5):c.2466C>T (p.Arg822=)
NM_001323289.2(CDKL5):c.2479T>C (p.Ser827Pro)
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_001323289.2(CDKL5):c.2485C>G (p.Leu829Val)
NM_001323289.2(CDKL5):c.2487G>C (p.Leu829=)
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_001323289.2(CDKL5):c.2496+16A>G
NM_001323289.2(CDKL5):c.2496+18C>G
NM_001323289.2(CDKL5):c.2497-3C>T
NM_001323289.2(CDKL5):c.2497-6_2497-3del rs2147178840
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_001323289.2(CDKL5):c.2505A>G (p.Pro835=) rs2147178868
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_001323289.2(CDKL5):c.2529dup (p.His844fs)
NM_001323289.2(CDKL5):c.2530C>A (p.His844Asn)
NM_001323289.2(CDKL5):c.2530del (p.His844fs)
NM_001323289.2(CDKL5):c.2545T>G (p.Ser849Ala)
NM_001323289.2(CDKL5):c.2548A>G (p.Asn850Asp)
NM_001323289.2(CDKL5):c.2551C>A (p.His851Asn)
NM_001323289.2(CDKL5):c.2555C>G (p.Pro852Arg) rs587783156
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp) rs2147139669
NM_001323289.2(CDKL5):c.2570C>G (p.Pro857Arg)
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter) rs1927139054
NM_001323289.2(CDKL5):c.2579_2582dup (p.Leu862fs) rs2147178955
NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.2606del (p.Asn869fs) rs2147178971
NM_001323289.2(CDKL5):c.2611T>G (p.Phe871Val) rs2147178975
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs) rs2147179000
NM_001323289.2(CDKL5):c.2655G>A (p.Gly885=)
NM_001323289.2(CDKL5):c.2666T>G (p.Ile889Ser)
NM_001323289.2(CDKL5):c.2668C>A (p.Arg890=) rs1354788122
NM_001323289.2(CDKL5):c.2668C>T (p.Arg890Trp)
NM_001323289.2(CDKL5):c.2668del (p.Arg890fs)
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs) rs1927142990
NM_001323289.2(CDKL5):c.2677C>T (p.Pro893Ser)
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_001323289.2(CDKL5):c.2680G>C (p.Ala894Pro) rs763110247
NM_001323289.2(CDKL5):c.2680G>T (p.Ala894Ser)
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2683C>A (p.Pro895Thr)
NM_001323289.2(CDKL5):c.2685G>A (p.Pro895=)
NM_001323289.2(CDKL5):c.2693_2694del (p.Arg898fs) rs2147179071
NM_001323289.2(CDKL5):c.2695C>G (p.Pro899Ala)
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2704C>A (p.Gln902Lys)
NM_001323289.2(CDKL5):c.2706G>C (p.Gln902His)
NM_001323289.2(CDKL5):c.2706G>T (p.Gln902His)
NM_001323289.2(CDKL5):c.2711C>T (p.Pro904Leu)
NM_001323289.2(CDKL5):c.2713G>A (p.Gly905Ser)
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.273T>C (p.Tyr91=)
NM_001323289.2(CDKL5):c.274G>C (p.Val92Leu) rs2147139679
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs) rs786204982
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter) rs1602300816
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.282+15G>A
NM_001323289.2(CDKL5):c.282+16C>A rs1456184121
NM_001323289.2(CDKL5):c.282+18A>G
NM_001323289.2(CDKL5):c.282+1G>A rs1569213054
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.282+3A>G
NM_001323289.2(CDKL5):c.282+5G>A rs1925269123
NM_001323289.2(CDKL5):c.282+5G>C
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.283-11T>G
NM_001323289.2(CDKL5):c.283-12_283-9del rs754433548
NM_001323289.2(CDKL5):c.283-15C>G
NM_001323289.2(CDKL5):c.283-15_283-14del
NM_001323289.2(CDKL5):c.283-18A>T
NM_001323289.2(CDKL5):c.283-3_290del rs786204983
NM_001323289.2(CDKL5):c.283-8A>G
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.2883A>T (p.Ter961Tyr)
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.295T>C (p.Leu99=) rs2147142589
NM_001323289.2(CDKL5):c.301G>T (p.Glu101Ter)
NM_001323289.2(CDKL5):c.308del (p.Met103fs) rs2147142599
NM_001323289.2(CDKL5):c.317G>A (p.Gly106Glu)
NM_001323289.2(CDKL5):c.327T>A (p.Pro109=)
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs) rs1925420814
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.351T>G (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs) rs1925421198
NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg) rs2147142685
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
NM_001323289.2(CDKL5):c.376T>G (p.Cys126Gly)
NM_001323289.2(CDKL5):c.377G>C (p.Cys126Ser) rs1925423604
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp) rs1925423909
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile) rs2147092100
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.396C>T (p.Val132=) rs1602271730
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro) rs1925424843
NM_001323289.2(CDKL5):c.39del (p.Phe13fs) rs267608415
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_001323289.2(CDKL5):c.401G>C (p.Arg134Pro)
NM_001323289.2(CDKL5):c.403+1G>A rs786204984
NM_001323289.2(CDKL5):c.403+540_554+61del
NM_001323289.2(CDKL5):c.404-15dup
NM_001323289.2(CDKL5):c.404-16T>A
NM_001323289.2(CDKL5):c.404-1G>A rs267608474
NM_001323289.2(CDKL5):c.404-1G>C
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.404-2A>G rs587783080
NM_001323289.2(CDKL5):c.404-2_412del rs2147143992
NM_001323289.2(CDKL5):c.404-6C>G
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met) rs1310022305
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala) rs1925492354
NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys) rs1925492808
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro) rs1925493091
NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val) rs1925493252
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His) rs2147144038
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.440A>T (p.Asp147Val)
NM_001323289.2(CDKL5):c.450del (p.Lys150fs) rs2147144049
NM_001323289.2(CDKL5):c.453del (p.Cys152fs) rs1555949763
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_001323289.2(CDKL5):c.460T>C (p.Phe154Leu) rs2147144071
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_001323289.2(CDKL5):c.463+16A>G
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.463+1G>T rs267608479
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)
NM_001323289.2(CDKL5):c.464-1G>C rs786204986
NM_001323289.2(CDKL5):c.464-2A>C rs267608480
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.464-3C>G
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro) rs2147145500
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
NM_001323289.2(CDKL5):c.46del (p.Val18fs)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.480G>T (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs) rs1925573011
NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) rs786204987
NM_001323289.2(CDKL5):c.507A>C (p.Thr169=)
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)
NM_001323289.2(CDKL5):c.51G>A (p.Gly17=)
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly) rs1925574557
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr) rs1064794734
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) rs2147145565
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_001323289.2(CDKL5):c.529T>C (p.Tyr177His)
NM_001323289.2(CDKL5):c.52dup (p.Val18fs)
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
NM_001323289.2(CDKL5):c.532C>A (p.Arg178=)
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly) rs267608493
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)
NM_001323289.2(CDKL5):c.533_536dup (p.Pro180fs)
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp) rs1602230515
NM_001323289.2(CDKL5):c.544C>T (p.Leu182Phe)
NM_001323289.2(CDKL5):c.546C>T (p.Leu182=)
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) rs587783111
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.554+17A>G
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.554+2T>C
NM_001323289.2(CDKL5):c.554+4A>G rs2147145614
NM_001323289.2(CDKL5):c.554+5G>A rs1925577525
NM_001323289.2(CDKL5):c.554+7_554+12del
NM_001323289.2(CDKL5):c.555-17C>T
NM_001323289.2(CDKL5):c.555-19C>A
NM_001323289.2(CDKL5):c.555-19C>T
NM_001323289.2(CDKL5):c.555-9A>G
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.573C>T (p.Ser191=)
NM_001323289.2(CDKL5):c.574G>A (p.Val192Met) rs998686458
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala) rs267608500
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter) rs2147147996
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.588G>A (p.Ser196=)
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser) rs267608418
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp) rs1925696959
NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn) rs2147148013
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val) rs786204962
NM_001323289.2(CDKL5):c.601_603del (p.Leu201del) rs2147148016
NM_001323289.2(CDKL5):c.601del (p.Glu203fs) rs1925697105
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp) rs2147148032
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly) rs1925697823
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_001323289.2(CDKL5):c.615C>T (p.Ser205=)
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.621A>T (p.Gly207=)
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg) rs2147148092
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.64+14T>C
NM_001323289.2(CDKL5):c.64+18C>T
NM_001323289.2(CDKL5):c.64+1G>C rs1922607301
NM_001323289.2(CDKL5):c.64+2T>G
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.64+3A>G
NM_001323289.2(CDKL5):c.64+4A>G
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg) rs1922607139
NM_001323289.2(CDKL5):c.65-7A>C
NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
NM_001323289.2(CDKL5):c.658del (p.Leu220fs)
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala) rs1602232972
NM_001323289.2(CDKL5):c.660T>C (p.Leu220=)
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter) rs1925701271
NM_001323289.2(CDKL5):c.678G>A (p.Val226=)
NM_001323289.2(CDKL5):c.678G>T (p.Val226=)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.680T>C (p.Leu227Pro) rs267608515
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_001323289.2(CDKL5):c.692del (p.Pro231fs)
NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)
NM_001323289.2(CDKL5):c.719G>T (p.Ser240Ile)
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_001323289.2(CDKL5):c.728G>A (p.Arg243His)
NM_001323289.2(CDKL5):c.735T>C (p.His245=)
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.744+1G>A rs1925705674
NM_001323289.2(CDKL5):c.745-15G>A rs2147153513
NM_001323289.2(CDKL5):c.745-1G>T rs2147153521
NM_001323289.2(CDKL5):c.745-20C>A
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001323289.2(CDKL5):c.745-3C>G rs2147153520
NM_001323289.2(CDKL5):c.745-3C>T
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_001323289.2(CDKL5):c.749del (p.Pro250fs) rs2147153531
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)
NM_001323289.2(CDKL5):c.758del (p.Asn253fs)
NM_001323289.2(CDKL5):c.767A>G (p.Gln256Arg)
NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)
NM_001323289.2(CDKL5):c.783A>G (p.Arg261=) rs1925958381
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001323289.2(CDKL5):c.794T>C (p.Ile265Thr) rs1925958833
NM_001323289.2(CDKL5):c.79G>T (p.Val27Leu)
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_001323289.2(CDKL5):c.803G>A (p.Ser268Asn) rs1925959502
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
NM_001323289.2(CDKL5):c.810A>G (p.Leu270=) rs2147153595
NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+10A>G
NM_001323289.2(CDKL5):c.825+1G>C
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.825+7C>T
NM_001323289.2(CDKL5):c.825+9A>G rs2147153613
NM_001323289.2(CDKL5):c.826-14_835del
NM_001323289.2(CDKL5):c.826-1G>A rs587783149
NM_001323289.2(CDKL5):c.826-2A>G rs1060501859
NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)
NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser) rs2147156094
NM_001323289.2(CDKL5):c.844_855del (p.Pro282_Arg285del) rs2147156103
NM_001323289.2(CDKL5):c.844_856delinsA (p.Pro282_Tyr286delinsAsn) rs2147156107
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly) rs1926078505
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.856T>A (p.Tyr286Asn) rs2147156130
NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001323289.2(CDKL5):c.86A>C (p.Lys29Thr)
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.873T>G (p.Cys291Trp)
NM_001323289.2(CDKL5):c.877_881dup (p.His294fs) rs1926080344
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs) rs1926080187
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_001323289.2(CDKL5):c.887C>A (p.Thr296Lys)
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.907C>T (p.Leu303=)
NM_001323289.2(CDKL5):c.914G>A (p.Arg305His)
NM_001323289.2(CDKL5):c.915T>G (p.Arg305=) rs1170498240
NM_001323289.2(CDKL5):c.918T>C (p.Ser306=)
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)
NM_001323289.2(CDKL5):c.951T>A (p.His317Gln)
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs) rs267608552
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.977+7A>G rs770011012
NM_001323289.2(CDKL5):c.978-14T>C
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.978-3T>C rs2147160073
NM_001323289.2(CDKL5):c.984A>G (p.Gln328=) rs2147160092
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser) rs760930296
NM_001323289.2(CDKL5):c.99+1G>C rs267608421
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001323289.2(CDKL5):c.99+5G>A rs587783131
NM_001323289.2(CDKL5):c.99+9A>C
NM_001323289.2(CDKL5):c.99+9A>G rs1602233003
NM_001323289.2(CDKL5):c.99+9A>T rs1602233003
NM_001323289.2(CDKL5):c.993_994dup (p.Ser332fs) rs2147160115
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001690.4(ATP6V1A):c.524C>T (p.Thr175Ile)
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003159.2(CDKL5):c.-253_2276+?del
NM_003159.2(CDKL5):c.-253_825+?del
NM_003159.2(CDKL5):c.-253_977+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.464_484del
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_003159.2(CDKL5):c.745-?_825+?del
NM_003159.3(CDKL5):c.2714-10del
NM_003159.3(CDKL5):c.2741_2742del (p.Arg914fs)
NM_003159.3(CDKL5):c.2793del (p.Gln931fs) rs1927760301
NM_003159.3(CDKL5):c.2796del (p.Gly933fs)
NM_003159.3(CDKL5):c.2797+8_2797+9del rs1555957573
NM_003159.3(CDKL5):c.2807_2809del (p.Phe936del)
NM_003159.3(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.3(CDKL5):c.2844C>T (p.Cys948=) rs1602315522
NM_003159.3(CDKL5):c.2849del (p.Pro950fs) rs1927981164
NM_003159.3(CDKL5):c.2921T>C (p.Met974Thr) rs2147197846
NM_003159.3(CDKL5):c.2972A>G (p.Gln991Arg)
NM_003159.3(CDKL5):c.2981G>C (p.Gly994Ala) rs2147201137
NM_003159.3(CDKL5):c.3037_3046del (p.Val1013fs) rs1363899499
NM_004408.4(DNM1):c.590-2A>G
NM_006009.4(TUBA1A):c.656T>C (p.Ile219Thr) rs2121244045
NM_006279.5(ST3GAL3):c.-31+9631T>C rs1163915476
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His) rs2082916829
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_006279.5(ST3GAL3):c.397+2T>C rs200255759
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser) rs745451424
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter) rs201204481
NM_006279.5(ST3GAL3):c.891+1del rs1387140766
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro) rs1557563410
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs) rs747316677
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_152309.3(PIK3AP1):c.100A>G (p.Ser34Gly)
NM_152309.3(PIK3AP1):c.1026T>G (p.Phe342Leu) rs2134231522
NM_152309.3(PIK3AP1):c.1031C>T (p.Ala344Val)
NM_152309.3(PIK3AP1):c.1032G>A (p.Ala344=) rs562494094
NM_152309.3(PIK3AP1):c.1032G>T (p.Ala344=)
NM_152309.3(PIK3AP1):c.1039G>A (p.Gly347Arg) rs1473752688
NM_152309.3(PIK3AP1):c.103C>A (p.Arg35=)
NM_152309.3(PIK3AP1):c.103C>T (p.Arg35Trp) rs760519047
NM_152309.3(PIK3AP1):c.1060T>A (p.Leu354Met)
NM_152309.3(PIK3AP1):c.1068C>T (p.Leu356=)
NM_152309.3(PIK3AP1):c.1070C>T (p.Thr357Ile) rs754924629
NM_152309.3(PIK3AP1):c.1071C>T (p.Thr357=)
NM_152309.3(PIK3AP1):c.1092G>C (p.Ala364=)
NM_152309.3(PIK3AP1):c.1111C>T (p.His371Tyr)
NM_152309.3(PIK3AP1):c.112C>G (p.Arg38Gly)
NM_152309.3(PIK3AP1):c.1134C>T (p.Ile378=)
NM_152309.3(PIK3AP1):c.113G>A (p.Arg38His) rs770855063
NM_152309.3(PIK3AP1):c.1143A>G (p.Lys381=)
NM_152309.3(PIK3AP1):c.1176C>T (p.Asp392=)
NM_152309.3(PIK3AP1):c.1177G>A (p.Glu393Lys)
NM_152309.3(PIK3AP1):c.1186-15C>T rs2134228489
NM_152309.3(PIK3AP1):c.1186-17C>T
NM_152309.3(PIK3AP1):c.1186-8T>C
NM_152309.3(PIK3AP1):c.1187A>C (p.Glu396Ala)
NM_152309.3(PIK3AP1):c.118del (p.Gln40fs) rs1564991748
NM_152309.3(PIK3AP1):c.1190C>T (p.Thr397Met)
NM_152309.3(PIK3AP1):c.1213A>C (p.Ile405Leu)
NM_152309.3(PIK3AP1):c.1218A>C (p.Lys406Asn) rs1177724670
NM_152309.3(PIK3AP1):c.1227G>C (p.Leu409=) rs2134228418
NM_152309.3(PIK3AP1):c.1233C>T (p.His411=)
NM_152309.3(PIK3AP1):c.123G>C (p.Lys41Asn)
NM_152309.3(PIK3AP1):c.1242G>A (p.Glu414=)
NM_152309.3(PIK3AP1):c.1243G>C (p.Ala415Pro) rs191740470
NM_152309.3(PIK3AP1):c.1243G>T (p.Ala415Ser)
NM_152309.3(PIK3AP1):c.1244C>G (p.Ala415Gly) rs1239321656
NM_152309.3(PIK3AP1):c.1252G>A (p.Val418Met) rs562166763
NM_152309.3(PIK3AP1):c.1252G>T (p.Val418Leu)
NM_152309.3(PIK3AP1):c.127C>T (p.Leu43=) rs2134291490
NM_152309.3(PIK3AP1):c.1281A>T (p.Thr427=)
NM_152309.3(PIK3AP1):c.13+19C>T
NM_152309.3(PIK3AP1):c.1301C>T (p.Ser434Leu) rs1329719454
NM_152309.3(PIK3AP1):c.1311C>T (p.Pro437=)
NM_152309.3(PIK3AP1):c.1312G>A (p.Gly438Ser) rs2134228303
NM_152309.3(PIK3AP1):c.1325A>T (p.Asp442Val)
NM_152309.3(PIK3AP1):c.1342G>C (p.Ala448Pro) rs1843446161
NM_152309.3(PIK3AP1):c.1345G>A (p.Ala449Thr)
NM_152309.3(PIK3AP1):c.135C>T (p.His45=)
NM_152309.3(PIK3AP1):c.1373T>C (p.Leu458Pro)
NM_152309.3(PIK3AP1):c.1376-14C>G
NM_152309.3(PIK3AP1):c.1376-6T>G
NM_152309.3(PIK3AP1):c.1380T>C (p.Val460=)
NM_152309.3(PIK3AP1):c.1398T>G (p.Ser466Arg)
NM_152309.3(PIK3AP1):c.14-17G>A
NM_152309.3(PIK3AP1):c.14-5T>C rs2134291677
NM_152309.3(PIK3AP1):c.1414C>T (p.Pro472Ser)
NM_152309.3(PIK3AP1):c.1417G>A (p.Gly473Arg) rs2134208864
NM_152309.3(PIK3AP1):c.1435G>A (p.Ala479Thr)
NM_152309.3(PIK3AP1):c.1436C>T (p.Ala479Val)
NM_152309.3(PIK3AP1):c.1439C>T (p.Thr480Ile) rs1843182697
NM_152309.3(PIK3AP1):c.143G>A (p.Gly48Asp) rs1249665321
NM_152309.3(PIK3AP1):c.1452G>T (p.Met484Ile) rs2134208820
NM_152309.3(PIK3AP1):c.1456C>T (p.Arg486Cys) rs1308742123
NM_152309.3(PIK3AP1):c.145C>A (p.Pro49Thr) rs773554213
NM_152309.3(PIK3AP1):c.1461G>A (p.Lys487=) rs2134208806
NM_152309.3(PIK3AP1):c.1470A>G (p.Glu490=)
NM_152309.3(PIK3AP1):c.1471+12C>G
NM_152309.3(PIK3AP1):c.1471+18G>A
NM_152309.3(PIK3AP1):c.1471+19C>T
NM_152309.3(PIK3AP1):c.1471+6T>C
NM_152309.3(PIK3AP1):c.1472-3T>C
NM_152309.3(PIK3AP1):c.1472-5T>C
NM_152309.3(PIK3AP1):c.1472-5T>G
NM_152309.3(PIK3AP1):c.1472G>A (p.Gly491Asp)
NM_152309.3(PIK3AP1):c.1489A>G (p.Thr497Ala) rs770212814
NM_152309.3(PIK3AP1):c.1507C>G (p.Gln503Glu)
NM_152309.3(PIK3AP1):c.150G>C (p.Glu50Asp) rs1844416205
NM_152309.3(PIK3AP1):c.1527A>G (p.Glu509=) rs1218886811
NM_152309.3(PIK3AP1):c.1527AGA[1] (p.Glu510del) rs752887348
NM_152309.3(PIK3AP1):c.1528G>A (p.Glu510Lys) rs1843161341
NM_152309.3(PIK3AP1):c.1534G>T (p.Val512Phe) rs2134207401
NM_152309.3(PIK3AP1):c.1536T>G (p.Val512=)
NM_152309.3(PIK3AP1):c.153C>T (p.Ala51=) rs1554963337
NM_152309.3(PIK3AP1):c.1543A>G (p.Thr515Ala)
NM_152309.3(PIK3AP1):c.1562C>G (p.Ala521Gly)
NM_152309.3(PIK3AP1):c.156C>T (p.Ser52=)
NM_152309.3(PIK3AP1):c.158_160del (p.Phe53del)
NM_152309.3(PIK3AP1):c.1590C>T (p.Pro530=) rs1363813166
NM_152309.3(PIK3AP1):c.1599A>G (p.Pro533=) rs2134207312
NM_152309.3(PIK3AP1):c.1622C>T (p.Ala541Val)
NM_152309.3(PIK3AP1):c.1631C>A (p.Ala544Asp)
NM_152309.3(PIK3AP1):c.163G>T (p.Ala55Ser) rs1844415897
NM_152309.3(PIK3AP1):c.1650C>G (p.Asn550Lys)
NM_152309.3(PIK3AP1):c.165A>G (p.Ala55=)
NM_152309.3(PIK3AP1):c.1669+10_1669+11delinsTT
NM_152309.3(PIK3AP1):c.1669+17A>G
NM_152309.3(PIK3AP1):c.1669+7A>G rs2134207219
NM_152309.3(PIK3AP1):c.1669G>A (p.Val557Ile) rs1843157949
NM_152309.3(PIK3AP1):c.1670-2A>T rs1843115988
NM_152309.3(PIK3AP1):c.1670-9A>T
NM_152309.3(PIK3AP1):c.1676C>T (p.Ala559Val) rs1843115934
NM_152309.3(PIK3AP1):c.1690G>A (p.Glu564Lys) rs1274478777
NM_152309.3(PIK3AP1):c.1694G>A (p.Arg565Gln)
NM_152309.3(PIK3AP1):c.1695G>A (p.Arg565=) rs922297353
NM_152309.3(PIK3AP1):c.1703A>T (p.Asn568Ile)
NM_152309.3(PIK3AP1):c.1705T>G (p.Phe569Val)
NM_152309.3(PIK3AP1):c.1715C>A (p.Ser572Tyr)
NM_152309.3(PIK3AP1):c.1727T>A (p.Ile576Asn)
NM_152309.3(PIK3AP1):c.1728C>T (p.Ile576=) rs1554954774
NM_152309.3(PIK3AP1):c.1736-3C>T
NM_152309.3(PIK3AP1):c.1736G>C (p.Gly579Ala)
NM_152309.3(PIK3AP1):c.1740G>A (p.Pro580=)
NM_152309.3(PIK3AP1):c.1765C>T (p.Pro589Ser)
NM_152309.3(PIK3AP1):c.1772C>T (p.Ser591Leu)
NM_152309.3(PIK3AP1):c.1793C>T (p.Ala598Val) rs761563569
NM_152309.3(PIK3AP1):c.182T>A (p.Phe61Tyr) rs1295938169
NM_152309.3(PIK3AP1):c.1857T>C (p.Ile619=) rs2134201181
NM_152309.3(PIK3AP1):c.1861A>G (p.Asn621Asp) rs2134201180
NM_152309.3(PIK3AP1):c.1872G>A (p.Glu624=) rs2134201161
NM_152309.3(PIK3AP1):c.1881C>T (p.Leu627=) rs753071212
NM_152309.3(PIK3AP1):c.18G>A (p.Val6=)
NM_152309.3(PIK3AP1):c.1907A>G (p.Gln636Arg) rs2134201107
NM_152309.3(PIK3AP1):c.1915C>T (p.Arg639Ter) rs1843059517
NM_152309.3(PIK3AP1):c.192C>T (p.Thr64=) rs755769271
NM_152309.3(PIK3AP1):c.1930C>T (p.Arg644Cys)
NM_152309.3(PIK3AP1):c.1941+4A>G
NM_152309.3(PIK3AP1):c.1942-3C>T
NM_152309.3(PIK3AP1):c.1965C>T (p.Asp655=)
NM_152309.3(PIK3AP1):c.1966A>T (p.Ser656Cys)
NM_152309.3(PIK3AP1):c.1983G>A (p.Gln661=)
NM_152309.3(PIK3AP1):c.1998dup (p.Ser667fs) rs1589490109
NM_152309.3(PIK3AP1):c.2014+12C>G
NM_152309.3(PIK3AP1):c.201C>T (p.Val67=) rs767322969
NM_152309.3(PIK3AP1):c.2028G>A (p.Thr676=)
NM_152309.3(PIK3AP1):c.2099A>G (p.Lys700Arg) rs760856517
NM_152309.3(PIK3AP1):c.2100A>G (p.Lys700=) rs2134189611
NM_152309.3(PIK3AP1):c.2103_2104inv (p.Val702Ile)
NM_152309.3(PIK3AP1):c.2108T>C (p.Ile703Thr) rs1554952901
NM_152309.3(PIK3AP1):c.2116A>C (p.Arg706=)
NM_152309.3(PIK3AP1):c.2121G>A (p.Thr707=)
NM_152309.3(PIK3AP1):c.2132G>A (p.Arg711Gln)
NM_152309.3(PIK3AP1):c.2135G>A (p.Gly712Glu) rs1849071480
NM_152309.3(PIK3AP1):c.213G>C (p.Leu71=)
NM_152309.3(PIK3AP1):c.216C>G (p.Ser72=)
NM_152309.3(PIK3AP1):c.2170+15G>T
NM_152309.3(PIK3AP1):c.2170+17G>A rs2134189475
NM_152309.3(PIK3AP1):c.2170+18C>G rs753935989
NM_152309.3(PIK3AP1):c.2170+18C>T rs753935989
NM_152309.3(PIK3AP1):c.2171-17T>C
NM_152309.3(PIK3AP1):c.2171-20A>G rs1848957609
NM_152309.3(PIK3AP1):c.2177C>G (p.Thr726Arg) rs113976248
NM_152309.3(PIK3AP1):c.2185C>T (p.Arg729Cys) rs745636219
NM_152309.3(PIK3AP1):c.2187C>T (p.Arg729=) rs2134183432
NM_152309.3(PIK3AP1):c.218C>T (p.Ala73Val)
NM_152309.3(PIK3AP1):c.2196C>G (p.Thr732=)
NM_152309.3(PIK3AP1):c.219G>A (p.Ala73=)
NM_152309.3(PIK3AP1):c.2205C>T (p.Leu735=)
NM_152309.3(PIK3AP1):c.2237A>C (p.Asn746Thr)
NM_152309.3(PIK3AP1):c.2241+6A>G
NM_152309.3(PIK3AP1):c.2242-11_2242-9del
NM_152309.3(PIK3AP1):c.2242-19C>T
NM_152309.3(PIK3AP1):c.2242-6del rs2134181291
NM_152309.3(PIK3AP1):c.2251G>C (p.Val751Leu)
NM_152309.3(PIK3AP1):c.2272C>T (p.Arg758Cys)
NM_152309.3(PIK3AP1):c.2283C>T (p.Gly761=)
NM_152309.3(PIK3AP1):c.2288C>A (p.Pro763Gln)
NM_152309.3(PIK3AP1):c.2294T>C (p.Val765Ala) rs1164907557
NM_152309.3(PIK3AP1):c.22A>G (p.Arg8Gly) rs1844418715
NM_152309.3(PIK3AP1):c.2302A>T (p.Thr768Ser)
NM_152309.3(PIK3AP1):c.2305C>A (p.Pro769Thr) rs1554951926
NM_152309.3(PIK3AP1):c.2311A>G (p.Met771Val)
NM_152309.3(PIK3AP1):c.2319C>G (p.Leu773=) rs777233199
NM_152309.3(PIK3AP1):c.2320G>A (p.Glu774Lys)
NM_152309.3(PIK3AP1):c.2335G>C (p.Val779Leu)
NM_152309.3(PIK3AP1):c.2339C>T (p.Pro780Leu) rs2134181089
NM_152309.3(PIK3AP1):c.233A>G (p.His78Arg)
NM_152309.3(PIK3AP1):c.2342C>T (p.Pro781Leu)
NM_152309.3(PIK3AP1):c.2352C>T (p.Ala784=) rs1390796047
NM_152309.3(PIK3AP1):c.2360+10A>G
NM_152309.3(PIK3AP1):c.2360+14T>C
NM_152309.3(PIK3AP1):c.2360+15G>T
NM_152309.3(PIK3AP1):c.2360+19T>A rs747096308
NM_152309.3(PIK3AP1):c.2360+19T>C
NM_152309.3(PIK3AP1):c.2360+19T>G
NM_152309.3(PIK3AP1):c.2360+6A>G rs1848911558
NM_152309.3(PIK3AP1):c.2361-17C>A rs2134172614
NM_152309.3(PIK3AP1):c.237C>G (p.Phe79Leu) rs1324659918
NM_152309.3(PIK3AP1):c.2387C>A (p.Pro796His) rs746172807
NM_152309.3(PIK3AP1):c.239A>C (p.His80Pro) rs1589550882
NM_152309.3(PIK3AP1):c.2406C>T (p.Pro802=)
NM_152309.3(PIK3AP1):c.253C>T (p.Leu85=)
NM_152309.3(PIK3AP1):c.26G>A (p.Gly9Glu) rs1381486962
NM_152309.3(PIK3AP1):c.295G>C (p.Val99Leu)
NM_152309.3(PIK3AP1):c.312C>T (p.Gly104=)
NM_152309.3(PIK3AP1):c.313G>A (p.Val105Met)
NM_152309.3(PIK3AP1):c.317G>A (p.Arg106Gln) rs1323743578
NM_152309.3(PIK3AP1):c.318G>A (p.Arg106=)
NM_152309.3(PIK3AP1):c.319G>A (p.Asp107Asn)
NM_152309.3(PIK3AP1):c.325G>A (p.Glu109Lys)
NM_152309.3(PIK3AP1):c.333C>T (p.Phe111=)
NM_152309.3(PIK3AP1):c.338A>G (p.Asp113Gly) rs2134291149
NM_152309.3(PIK3AP1):c.359A>G (p.His120Arg) rs762096013
NM_152309.3(PIK3AP1):c.363G>T (p.Trp121Cys)
NM_152309.3(PIK3AP1):c.367G>A (p.Glu123Lys)
NM_152309.3(PIK3AP1):c.381C>A (p.Asp127Glu)
NM_152309.3(PIK3AP1):c.381C>T (p.Asp127=) rs1206726427
NM_152309.3(PIK3AP1):c.382G>C (p.Asp128His) rs1844410722
NM_152309.3(PIK3AP1):c.383A>G (p.Asp128Gly)
NM_152309.3(PIK3AP1):c.399C>T (p.Tyr133=)
NM_152309.3(PIK3AP1):c.411G>A (p.Val137=)
NM_152309.3(PIK3AP1):c.426C>T (p.Ser142=)
NM_152309.3(PIK3AP1):c.431-18G>A rs1409765569
NM_152309.3(PIK3AP1):c.431-5T>C
NM_152309.3(PIK3AP1):c.442G>T (p.Asp148Tyr)
NM_152309.3(PIK3AP1):c.450C>T (p.Val150=)
NM_152309.3(PIK3AP1):c.465T>C (p.Pro155=)
NM_152309.3(PIK3AP1):c.492G>A (p.Ser164=) rs778934212
NM_152309.3(PIK3AP1):c.492G>C (p.Ser164=)
NM_152309.3(PIK3AP1):c.504C>T (p.Asn168=) rs143102361
NM_152309.3(PIK3AP1):c.506T>C (p.Leu169Pro)
NM_152309.3(PIK3AP1):c.510G>A (p.Pro170=)
NM_152309.3(PIK3AP1):c.510G>C (p.Pro170=) rs761536697
NM_152309.3(PIK3AP1):c.512C>G (p.Thr171Arg)
NM_152309.3(PIK3AP1):c.514G>C (p.Val172Leu)
NM_152309.3(PIK3AP1):c.514G>T (p.Val172Leu) rs766807797
NM_152309.3(PIK3AP1):c.522A>C (p.Ser174=) rs776181166
NM_152309.3(PIK3AP1):c.528G>C (p.Gly176=)
NM_152309.3(PIK3AP1):c.53C>T (p.Pro18Leu)
NM_152309.3(PIK3AP1):c.54G>A (p.Pro18=)
NM_152309.3(PIK3AP1):c.553C>T (p.Arg185Cys) rs749289928
NM_152309.3(PIK3AP1):c.562T>C (p.Cys188Arg) rs1843620428
NM_152309.3(PIK3AP1):c.567+5G>T rs2134239266
NM_152309.3(PIK3AP1):c.608A>G (p.Asp203Gly)
NM_152309.3(PIK3AP1):c.612C>T (p.Asp204=)
NM_152309.3(PIK3AP1):c.616G>T (p.Val206Leu)
NM_152309.3(PIK3AP1):c.621G>T (p.Ala207=)
NM_152309.3(PIK3AP1):c.642T>A (p.Pro214=) rs752472885
NM_152309.3(PIK3AP1):c.646G>A (p.Asp216Asn)
NM_152309.3(PIK3AP1):c.662G>A (p.Arg221Lys)
NM_152309.3(PIK3AP1):c.679G>C (p.Glu227Gln) rs1843557117
NM_152309.3(PIK3AP1):c.685G>A (p.Glu229Lys) rs1264361188
NM_152309.3(PIK3AP1):c.690C>T (p.Tyr230=) rs2134235520
NM_152309.3(PIK3AP1):c.706G>T (p.Ala236Ser) rs1307133908
NM_152309.3(PIK3AP1):c.712+14T>G rs2134235478
NM_152309.3(PIK3AP1):c.713-19T>C
NM_152309.3(PIK3AP1):c.72C>T (p.Cys24=)
NM_152309.3(PIK3AP1):c.748T>G (p.Ser250Ala)
NM_152309.3(PIK3AP1):c.758T>C (p.Leu253Ser)
NM_152309.3(PIK3AP1):c.759A>C (p.Leu253Phe)
NM_152309.3(PIK3AP1):c.761T>A (p.Val254Glu)
NM_152309.3(PIK3AP1):c.778A>G (p.Ile260Val)
NM_152309.3(PIK3AP1):c.796A>G (p.Met266Val) rs371873967
NM_152309.3(PIK3AP1):c.79C>T (p.Leu27=) rs2134291563
NM_152309.3(PIK3AP1):c.807T>G (p.Ile269Met) rs1843537852
NM_152309.3(PIK3AP1):c.808G>A (p.Gly270Arg) rs751076536
NM_152309.3(PIK3AP1):c.813T>C (p.Asn271=)
NM_152309.3(PIK3AP1):c.814T>G (p.Leu272Val) rs2134234232
NM_152309.3(PIK3AP1):c.826G>A (p.Ala276Thr) rs779642441
NM_152309.3(PIK3AP1):c.829G>A (p.Ala277Thr)
NM_152309.3(PIK3AP1):c.829G>T (p.Ala277Ser) rs182619826
NM_152309.3(PIK3AP1):c.855+13C>A
NM_152309.3(PIK3AP1):c.855+7A>T rs2134234166
NM_152309.3(PIK3AP1):c.856-20A>G
NM_152309.3(PIK3AP1):c.86C>A (p.Thr29Asn)
NM_152309.3(PIK3AP1):c.887C>T (p.Thr296Ile) rs1589515449
NM_152309.3(PIK3AP1):c.898C>T (p.Leu300=) rs1427646407
NM_152309.3(PIK3AP1):c.91T>C (p.Phe31Leu)
NM_152309.3(PIK3AP1):c.921C>A (p.Asn307Lys) rs774301849
NM_152309.3(PIK3AP1):c.980T>C (p.Met327Thr) rs972272839
NM_152309.3(PIK3AP1):c.988+11A>G
NM_152309.3(PIK3AP1):c.988+6T>A
NM_152309.3(PIK3AP1):c.999T>G (p.Asp333Glu)
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
Single allele

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