ClinVar Miner

List of variants reported as likely benign for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7724
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.*937C>A rs41315924 0.03642
NM_004519.4(KCNQ3):c.*6446del rs35153843 0.02379
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001127644.2(GABRA1):c.-53C>A rs75583203 0.01969
NM_004519.4(KCNQ3):c.*4316del rs61438560 0.01792
NM_015192.4(PLCB1):c.*749G>C rs16995375 0.01704
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_004519.4(KCNQ3):c.*7413G>C rs111267263 0.01573
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01337
NM_001134407.3(GRIN2A):c.*8536_*8537insC rs59371229 0.01284
NM_018023.5(YEATS2):c.1601C>A (p.Thr534Lys) rs34759333 0.01226
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925 0.01009
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_004519.4(KCNQ3):c.*5255T>C rs146830560 0.00938
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_198904.4(GABRG2):c.*794A>G rs73316347 0.00873
NM_001199107.2(TBC1D24):c.*4278C>G rs74462094 0.00822
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00805
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_004519.4(KCNQ3):c.*5762G>A rs77343115 0.00723
NM_015192.4(PLCB1):c.*855G>A rs115731722 0.00722
NM_015192.4(PLCB1):c.*1538G>T rs116163517 0.00719
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120 0.00667
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) rs59297244 0.00610
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_004519.4(KCNQ3):c.*4817G>A rs76758430 0.00586
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00542
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) rs61382101 0.00511
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_032776.3(JMJD1C):c.7591G>A (p.Glu2531Lys) rs71508957 0.00482
NM_004519.4(KCNQ3):c.*5704C>T rs145396746 0.00474
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308 0.00434
NM_004519.4(KCNQ3):c.*6174A>G rs116373101 0.00433
NM_198904.4(GABRG2):c.*343A>G rs41275341 0.00432
NM_004519.4(KCNQ3):c.*3731G>T rs117524261 0.00428
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026 0.00407
NM_001199107.2(TBC1D24):c.*3235T>G rs187125185 0.00402
NM_004519.4(KCNQ3):c.*3701G>A rs576940686 0.00391
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_021098.3(CACNA1H):c.4224-6C>T rs72552039 0.00386
NM_004519.4(KCNQ3):c.*5578A>G rs148780224 0.00381
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_004519.4(KCNQ3):c.*7689A>G rs142621198 0.00377
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001199107.2(TBC1D24):c.*3370C>T rs79502522 0.00360
NM_198904.4(GABRG2):c.*385G>A rs185169107 0.00360
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_004519.4(KCNQ3):c.1236-16C>T rs201168632 0.00301
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_001130438.3(SPTAN1):c.931-16C>T rs149289060 0.00285
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795 0.00248
NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp) rs201112543 0.00245
NM_004519.4(KCNQ3):c.*6199C>T rs183259250 0.00240
NM_000811.3(GABRA6):c.710A>G (p.Gln237Arg) rs76773579 0.00226
NM_021098.3(CACNA1H):c.2603+20C>A rs57600685 0.00226
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980 0.00224
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001199107.2(TBC1D24):c.*3218T>G rs564761307 0.00216
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_004519.4(KCNQ3):c.*7722T>A rs138128512 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_000806.5(GABRA1):c.-446G>C rs28364635 0.00203
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) rs145911280 0.00202
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) rs201955244 0.00198
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_173354.5(SIK1):c.859_861del (p.Pro287del) rs374476526 0.00195
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr) rs58394372 0.00193
NM_004519.4(KCNQ3):c.*3303C>A rs571392133 0.00185
NM_021098.3(CACNA1H):c.4778-14C>T rs374784679 0.00185
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu) rs145352110 0.00182
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) rs112011493 0.00172
NM_021098.3(CACNA1H):c.1212+18T>C rs11863387 0.00171
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=) rs57181695 0.00171
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00171
NM_004519.4(KCNQ3):c.*3897C>G rs191691741 0.00166
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_004519.4(KCNQ3):c.*2847T>C rs138023368 0.00156
NM_152309.3(PIK3AP1):c.217G>T (p.Ala73Ser) rs146527410 0.00156
NM_001199107.2(TBC1D24):c.*3750C>T rs189487145 0.00155
NM_021098.3(CACNA1H):c.2790-20G>A rs373286579 0.00153
NM_198904.4(GABRG2):c.*261G>A rs148001179 0.00153
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_001040142.1(SCN2A):c.*2490G>A rs189308010 0.00146
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_021098.3(CACNA1H):c.1213-18C>T rs57432507 0.00130
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) rs189695070 0.00128
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) rs56930660 0.00126
NM_001040142.2(SCN2A):c.*2480A>G rs184839439 0.00123
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=) rs58110066 0.00122
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) rs117964326 0.00118
NM_173354.5(SIK1):c.1100C>T (p.Ser367Leu) rs146018004 0.00118
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00117
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_021098.3(CACNA1H):c.643+11G>A rs200949826 0.00114
NM_032776.3(JMJD1C):c.959G>A (p.Ser320Asn) rs201497554 0.00113
NM_198904.4(GABRG2):c.*1636T>C rs551794496 0.00113
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_032776.3(JMJD1C):c.1868T>C (p.Ile623Thr) rs183692723 0.00112
NM_001040142.2(SCN2A):c.*874A>G rs572817494 0.00111
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_198904.4(GABRG2):c.*2095C>G rs138297122 0.00105
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_001134407.3(GRIN2A):c.*2586C>T rs181616477 0.00102
NM_012281.3(KCND2):c.746C>T (p.Ala249Val) rs146220085 0.00102
NM_001199107.2(TBC1D24):c.*622C>T rs181012332 0.00100
NM_032776.3(JMJD1C):c.6112G>C (p.Glu2038Gln) rs201787760 0.00099
NM_032776.3(JMJD1C):c.2832A>G (p.Pro944=) rs61758114 0.00098
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=) rs61732194 0.00095
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=) rs200144667 0.00094
NM_001271.4(CHD2):c.2973+4A>G rs202244266 0.00093
NM_012281.3(KCND2):c.1375-8G>T rs201244697 0.00093
NM_004519.4(KCNQ3):c.*3165G>T rs567074601 0.00091
NM_012281.3(KCND2):c.1415C>T (p.Ser472Phe) rs146058924 0.00091
NM_172107.4(KCNQ2):c.1887+17G>A rs369457896 0.00091
NM_032776.3(JMJD1C):c.4180A>T (p.Thr1394Ser) rs139881253 0.00088
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
NM_004519.4(KCNQ3):c.*1159G>A rs117218884 0.00087
NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser) rs140744818 0.00085
NM_021098.3(CACNA1H):c.2451+20C>T rs144765479 0.00083
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg) rs144056952 0.00082
NM_032776.3(JMJD1C):c.6702T>C (p.Asn2234=) rs201800652 0.00082
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) rs139253468 0.00081
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_021098.3(CACNA1H):c.3744+17G>A rs187187164 0.00077
NM_173354.5(SIK1):c.881C>T (p.Ala294Val) rs141114345 0.00077
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met) rs201616456 0.00076
NM_032776.3(JMJD1C):c.5074+8dup rs774107583 0.00076
NM_001040142.2(SCN2A):c.*792A>G rs539290679 0.00074
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=) rs57606792 0.00073
NM_021098.3(CACNA1H):c.804-8A>G rs367708036 0.00073
NM_032776.3(JMJD1C):c.4567A>T (p.Ile1523Phe) rs183013953 0.00073
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln) rs58594334 0.00072
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00072
NM_016373.4(WWOX):c.605+9T>A rs368853054 0.00069
NM_139058.3(ARX):c.447G>C (p.Ala149=) rs745705522 0.00069
NM_152309.3(PIK3AP1):c.2251G>T (p.Val751Phe) rs147376017 0.00069
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=) rs371026871 0.00068
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_032776.3(JMJD1C):c.1544A>G (p.Asp515Gly) rs61758117 0.00068
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile) rs200769337 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=) rs60537026 0.00067
NM_032776.3(JMJD1C):c.72T>C (p.Arg24=) rs182663630 0.00067
NM_001199107.2(TBC1D24):c.*1233C>T rs74621956 0.00066
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_021098.3(CACNA1H):c.6048+18C>A rs72552057 0.00066
NM_032776.3(JMJD1C):c.1103G>A (p.Arg368Gln) rs200644675 0.00066
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=) rs371762447 0.00063
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=) rs374421144 0.00063
NM_152309.3(PIK3AP1):c.1412T>A (p.Ile471Asn) rs145525421 0.00062
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_032776.3(JMJD1C):c.1120G>C (p.Asp374His) rs200016210 0.00061
NM_032776.3(JMJD1C):c.334-20A>T rs374798349 0.00061
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_032776.3(JMJD1C):c.2037T>C (p.His679=) rs112116567 0.00059
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_004519.4(KCNQ3):c.*1582C>T rs140360332 0.00058
NM_021098.3(CACNA1H):c.299+20G>T rs1291334132 0.00058
NM_032776.3(JMJD1C):c.468C>G (p.Asn156Lys) rs145265323 0.00057
NM_032776.3(JMJD1C):c.168+9G>A rs368307551 0.00056
NM_032776.3(JMJD1C):c.2895A>T (p.Glu965Asp) rs189118006 0.00056
NM_032776.3(JMJD1C):c.4286C>T (p.Ser1429Leu) rs201627592 0.00056
NM_032776.3(JMJD1C):c.5250A>G (p.Val1750=) rs369497646 0.00056
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_005076.5(CNTN2):c.3085G>A (p.Val1029Met) rs139534426 0.00054
NM_016373.4(WWOX):c.957C>T (p.Asn319=) rs144417100 0.00054
NM_021098.3(CACNA1H):c.3845+8G>A rs200291203 0.00054
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=) rs368758031 0.00053
NM_000811.3(GABRA6):c.1142T>C (p.Ile381Thr) rs141319994 0.00051
NM_004519.4(KCNQ3):c.*3280G>C rs550558851 0.00051
NM_016373.4(WWOX):c.60G>C (p.Pro20=) rs376165565 0.00051
NM_000814.6(GABRB3):c.1158C>T (p.Gly386=) rs147235962 0.00050
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_015192.4(PLCB1):c.3039G>A (p.Gln1013=) rs139859188 0.00049
NM_032776.3(JMJD1C):c.6427A>G (p.Ile2143Val) rs200368807 0.00049
NM_021098.3(CACNA1H):c.3969+20C>T rs201422742 0.00048
NM_021098.3(CACNA1H):c.5445+6C>T rs372544546 0.00048
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 0.00048
NM_032776.3(JMJD1C):c.2538A>G (p.Gly846=) rs200418707 0.00048
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=) rs144292068 0.00047
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_012281.3(KCND2):c.216G>A (p.Arg72=) rs140949631 0.00047
NM_016373.4(WWOX):c.517-12C>T rs373188700 0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_016373.4(WWOX):c.1203C>T (p.Ser401=) rs201428060 0.00046
NM_032776.3(JMJD1C):c.5862+18G>T rs748928858 0.00046
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=) rs373620549 0.00045
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945 0.00044
NM_012281.3(KCND2):c.1441C>T (p.Leu481=) rs370190131 0.00044
NM_032776.3(JMJD1C):c.822+14T>C rs377123420 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
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_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_004519.4(KCNQ3):c.-85C>T rs765522706 0.00043
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831 0.00043
NM_021098.3(CACNA1H):c.4476+15C>T rs201891003 0.00043
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_021098.3(CACNA1H):c.3845+11C>T rs58080058 0.00042
NM_000834.5(GRIN2B):c.812C>T (p.Ala271Val) rs138098032 0.00041
NM_001271.4(CHD2):c.1810-3T>C rs189339982 0.00041
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=) rs58304047 0.00041
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=) rs370805573 0.00041
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=) rs79829712 0.00041
NM_032776.3(JMJD1C):c.1703A>T (p.Asp568Val) rs201464655 0.00041
NM_032776.3(JMJD1C):c.1804C>G (p.Pro602Ala) rs200874068 0.00041
NM_032776.3(JMJD1C):c.2579A>G (p.Tyr860Cys) rs201696710 0.00041
NM_032776.3(JMJD1C):c.3157G>C (p.Ala1053Pro) rs144839482 0.00041
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_021098.3(CACNA1H):c.1213-7G>A rs372752869 0.00040
NM_032776.3(JMJD1C):c.4209C>T (p.Ala1403=) rs193233064 0.00040
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020 0.00039
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603 0.00039
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00039
NM_016373.4(WWOX):c.173-11T>C rs370729028 0.00039
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu) rs114879710 0.00038
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) rs187225648 0.00038
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=) rs200017975 0.00038
NM_032776.3(JMJD1C):c.966A>G (p.Pro322=) rs200728992 0.00038
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088 0.00036
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899 0.00036
NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966 0.00035
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_005076.5(CNTN2):c.2835C>T (p.Thr945=) rs141466578 0.00035
NM_173354.5(SIK1):c.1404G>A (p.Thr468=) rs147101451 0.00035
NM_198904.4(GABRG2):c.*1518A>G rs567153845 0.00035
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910 0.00034
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) rs201352768 0.00034
NM_032776.3(JMJD1C):c.1166T>C (p.Ile389Thr) rs201371848 0.00034
NM_152309.3(PIK3AP1):c.1495C>T (p.Leu499=) rs199720844 0.00034
NM_021098.3(CACNA1H):c.3846-16G>A rs764918796 0.00033
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_152309.3(PIK3AP1):c.2335G>A (p.Val779Met) rs45587542 0.00032
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_000814.6(GABRB3):c.835+8C>T rs75812437 0.00031
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949 0.00031
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu) rs370464322 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_005076.5(CNTN2):c.487+20C>A rs201600070 0.00031
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg) rs200813987 0.00031
NM_021098.3(CACNA1H):c.3745-17G>A rs201602467 0.00031
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=) rs368284672 0.00031
NM_032776.3(JMJD1C):c.4386G>C (p.Lys1462Asn) rs188520171 0.00031
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324 0.00030
NM_007254.4(PNKP):c.1386+41_1386+42del rs765720389 0.00030
NM_021098.3(CACNA1H):c.4566+18G>A rs376034289 0.00030
NM_032776.3(JMJD1C):c.4863T>G (p.Thr1621=) rs376675037 0.00030
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg) rs146655995 0.00029
NM_004519.4(KCNQ3):c.*5018C>G rs534993423 0.00029
NM_004519.4(KCNQ3):c.225C>G (p.Asp75Glu) rs138254004 0.00029
NM_012281.3(KCND2):c.432C>T (p.Asn144=) rs150367628 0.00029
NM_016373.4(WWOX):c.1142G>A (p.Arg381His) rs202002431 0.00029
NM_016373.4(WWOX):c.552C>T (p.Leu184=) rs199715254 0.00029
NM_032776.3(JMJD1C):c.3565T>C (p.Leu1189=) rs372806250 0.00029
NM_152309.3(PIK3AP1):c.774C>T (p.Thr258=) rs199687287 0.00029
NM_173354.5(SIK1):c.2175G>A (p.Ala725=) rs372469113 0.00029
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
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_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698 0.00028
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
NM_021098.3(CACNA1H):c.2003-5C>T rs369119012 0.00027
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) rs199693105 0.00027
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=) rs534974071 0.00027
NM_032776.3(JMJD1C):c.4808T>C (p.Ile1603Thr) rs200242659 0.00027
NM_001134407.3(GRIN2A):c.2007+16T>C rs371738664 0.00026
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala) rs146839931 0.00026
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_004408.4(DNM1):c.414C>T (p.Pro138=) rs141748215 0.00026
NM_012281.3(KCND2):c.1209G>A (p.Pro403=) rs139984469 0.00026
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=) rs375590164 0.00026
NM_021098.3(CACNA1H):c.3745-18C>T rs570915422 0.00026
NM_139058.3(ARX):c.1515A>G (p.Thr505=) rs398124509 0.00026
NM_173354.5(SIK1):c.2148C>T (p.Thr716=) rs776741814 0.00026
NM_173354.5(SIK1):c.875T>A (p.Phe292Tyr) rs150241738 0.00026
NM_000834.5(GRIN2B):c.3413G>A (p.Arg1138Gln) rs187979330 0.00025
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_015192.4(PLCB1):c.2907C>T (p.Ser969=) rs368328261 0.00025
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=) rs372975893 0.00025
NM_032776.3(JMJD1C):c.3214C>T (p.Arg1072Cys) rs566751308 0.00025
NM_032776.3(JMJD1C):c.894G>A (p.Gln298=) rs371805077 0.00025
NM_198904.4(GABRG2):c.954C>T (p.Leu318=) rs749531013 0.00025
NM_000814.6(GABRB3):c.231A>G (p.Glu77=) rs151221282 0.00024
NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=) rs201568782 0.00024
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542 0.00024
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=) rs148846694 0.00024
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00024
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=) rs368251427 0.00024
NM_032776.3(JMJD1C):c.1391C>T (p.Ser464Leu) rs201514908 0.00024
NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=) rs142935139 0.00023
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=) rs367543138 0.00023
NM_015192.4(PLCB1):c.696-18G>T rs371748595 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=) rs1052743921 0.00023
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00022
NM_004408.4(DNM1):c.2582C>A (p.Pro861His) rs187315526 0.00022
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser) rs560915333 0.00022
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308 0.00022
NM_152309.3(PIK3AP1):c.1302G>A (p.Ser434=) rs140843691 0.00022
NM_173354.5(SIK1):c.2226C>T (p.Pro742=) rs199872172 0.00022
NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly) rs756377602 0.00022
NM_173354.5(SIK1):c.748+7C>T rs200315286 0.00022
NM_001127644.2(GABRA1):c.886T>C (p.Leu296=) rs149677108 0.00021
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile) rs555768104 0.00021
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015 0.00021
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met) rs770993927 0.00021
NM_004408.4(DNM1):c.235+8C>T rs370555560 0.00021
NM_004519.4(KCNQ3):c.*5391C>T rs569024726 0.00021
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_012281.3(KCND2):c.1116-14T>A rs184667978 0.00021
NM_015192.4(PLCB1):c.3337-69G>A rs45541432 0.00021
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=) rs56816479 0.00021
NM_032776.3(JMJD1C):c.1698C>T (p.Val566=) rs376805557 0.00021
NM_032776.3(JMJD1C):c.6077-11T>A rs199920148 0.00021
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628 0.00021
NM_001199107.2(TBC1D24):c.*2001A>G rs529770652 0.00020
NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln) rs199599866 0.00020
NM_004408.4(DNM1):c.1386C>T (p.Thr462=) rs372666180 0.00020
NM_007254.4(PNKP):c.1387-37A>T rs530790386 0.00020
NM_021098.3(CACNA1H):c.2452-7C>T rs28365121 0.00020
NM_032776.3(JMJD1C):c.1867A>G (p.Ile623Val) rs753603959 0.00020
NM_032776.3(JMJD1C):c.2982G>A (p.Arg994=) rs371113186 0.00020
NM_152309.3(PIK3AP1):c.568-16C>T rs369779741 0.00020
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_000811.3(GABRA6):c.339G>A (p.Thr113=) rs113239794 0.00019
NM_000834.5(GRIN2B):c.2813G>A (p.Arg938His) rs150445188 0.00019
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001134407.3(GRIN2A):c.1458C>A (p.Gly486=) rs144572467 0.00019
NM_001134407.3(GRIN2A):c.2007+10C>T rs368110989 0.00019
NM_001134407.3(GRIN2A):c.3039G>A (p.Leu1013=) rs577077724 0.00019
NM_001199107.2(TBC1D24):c.*4677G>A rs145113614 0.00019
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser) rs150040014 0.00019
NM_004519.4(KCNQ3):c.1964C>T (p.Thr655Met) rs199942237 0.00019
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_007254.4(PNKP):c.1281C>T (p.Asp427=) rs770775129 0.00019
NM_007254.4(PNKP):c.198+9G>A rs370222304 0.00019
NM_012281.3(KCND2):c.1598G>A (p.Arg533Gln) rs367713278 0.00019
NM_016373.4(WWOX):c.723G>A (p.Gln241=) rs191029309 0.00019
NM_021098.3(CACNA1H):c.4759+8G>A rs199997129 0.00019
NM_032776.3(JMJD1C):c.4380T>C (p.Ser1460=) rs142996119 0.00019
NM_032776.3(JMJD1C):c.5409A>G (p.Lys1803=) rs201595819 0.00019
NM_152309.3(PIK3AP1):c.989-12G>C rs201975171 0.00019
NM_173354.5(SIK1):c.1086G>T (p.Pro362=) rs139979941 0.00019
NM_173354.5(SIK1):c.1246-5C>T rs371389145 0.00019
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_001271.4(CHD2):c.2728-16G>A rs111544874 0.00018
NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala) rs143664009 0.00018
NM_007254.4(PNKP):c.1298+14G>A rs559532107 0.00018
NM_012281.3(KCND2):c.1338G>A (p.Gln446=) rs144966242 0.00018
NM_016373.4(WWOX):c.1179G>A (p.Thr393=) rs376293017 0.00018
NM_173354.5(SIK1):c.1926C>T (p.Ala642=) rs761311570 0.00018
NM_173354.5(SIK1):c.2048C>T (p.Pro683Leu) rs776595772 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001271.4(CHD2):c.2877-15A>G rs374737708 0.00017
NM_001271.4(CHD2):c.4009-4C>T rs376566234 0.00017
NM_012281.3(KCND2):c.1418G>C (p.Ser473Thr) rs140087318 0.00017
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=) rs543668675 0.00017
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=) rs61700478 0.00017
NM_152309.3(PIK3AP1):c.729C>T (p.Asn243=) rs571900807 0.00017
NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu) rs200481902 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_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908 0.00016
NM_001271.4(CHD2):c.1377+12G>A rs200005446 0.00016
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.4593-19T>C rs377557426 0.00016
NM_004408.4(DNM1):c.1335+8G>A rs374438127 0.00016
NM_004408.4(DNM1):c.2430G>A (p.Gly810=) rs1007155416 0.00016
NM_005076.5(CNTN2):c.1755C>T (p.Tyr585=) rs575768659 0.00016
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_015192.4(PLCB1):c.1250+17T>A rs776777689 0.00016
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=) rs59027754 0.00016
NM_021098.3(CACNA1H):c.2790-5C>T rs369327243 0.00016
NM_021098.3(CACNA1H):c.5174-5C>T rs199536335 0.00016
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=) rs375620368 0.00016
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00016
NM_032776.3(JMJD1C):c.2838G>A (p.Leu946=) rs766538443 0.00016
NM_032776.3(JMJD1C):c.4497C>T (p.Ala1499=) rs201686311 0.00016
NM_152309.3(PIK3AP1):c.285G>T (p.Pro95=) rs777298829 0.00016
NM_000814.6(GABRB3):c.585C>T (p.Gly195=) rs781294125 0.00015
NM_000814.6(GABRB3):c.894C>T (p.Pro298=) rs139378274 0.00015
NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=) rs189384622 0.00015
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) rs566224462 0.00015
NM_001127644.2(GABRA1):c.704-17T>G rs115043829 0.00015
NM_001134407.3(GRIN2A):c.1155G>C (p.Leu385=) rs139119497 0.00015
NM_004519.4(KCNQ3):c.1947G>A (p.Arg649=) rs142082768 0.00015
NM_005076.5(CNTN2):c.2514G>A (p.Gln838=) rs144293383 0.00015
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=) rs374317639 0.00015
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=) rs537043174 0.00015
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00015
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=) rs370836939 0.00015
NM_032776.3(JMJD1C):c.1016-17T>C rs199894001 0.00015
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 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.7161-8G>A rs202180736 0.00014
NM_001134407.3(GRIN2A):c.4212C>A (p.Ser1404=) rs373213959 0.00014
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=) rs368200727 0.00014
NM_001271.4(CHD2):c.4485G>A (p.Val1495=) rs143356457 0.00014
NM_001271.4(CHD2):c.891C>T (p.Asp297=) rs567353575 0.00014
NM_007254.4(PNKP):c.1448+13A>G rs748882543 0.00014
NM_012281.3(KCND2):c.1534C>T (p.Pro512Ser) rs372198586 0.00014
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=) rs369894677 0.00014
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=) rs368201539 0.00014
NM_021098.3(CACNA1H):c.3969+12A>G rs200138472 0.00014
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=) rs369051137 0.00014
NM_032776.3(JMJD1C):c.1608A>G (p.Lys536=) rs199536995 0.00014
NM_152309.3(PIK3AP1):c.1492A>G (p.Asn498Asp) rs746475285 0.00014
NM_198904.4(GABRG2):c.11C>T (p.Pro4Leu) rs375295110 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725 0.00013
NM_005076.5(CNTN2):c.1215C>T (p.Tyr405=) rs764907069 0.00013
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964 0.00013
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.2308+11dup rs753502275 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn) rs146467751 0.00013
NM_021098.3(CACNA1H):c.3363+12C>G rs749123905 0.00013
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098 0.00013
NM_032776.3(JMJD1C):c.3384G>A (p.Ala1128=) rs199576131 0.00013
NM_032776.3(JMJD1C):c.3720T>A (p.Ala1240=) rs374157558 0.00013
NM_032776.3(JMJD1C):c.4797T>C (p.Asp1599=) rs200715648 0.00013
NM_173354.5(SIK1):c.1198G>T (p.Val400Phe) rs746671842 0.00013
NM_000814.6(GABRB3):c.675C>T (p.Phe225=) rs201004195 0.00012
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308 0.00012
NM_001040142.2(SCN2A):c.2919+8G>A rs552318566 0.00012
NM_001040142.2(SCN2A):c.4823-15G>A rs375524288 0.00012
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001134407.3(GRIN2A):c.2008-14C>T rs375126711 0.00012
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291 0.00012
NM_001199107.2(TBC1D24):c.*1259G>A rs545082961 0.00012
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=) rs368956894 0.00012
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=) rs773501953 0.00012
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=) rs940068732 0.00012
NM_032776.3(JMJD1C):c.3486G>A (p.Lys1162=) rs200897999 0.00012
NM_139058.3(ARX):c.1599C>G (p.Ala533=) rs1057523196 0.00012
NM_139058.3(ARX):c.708T>C (p.Asp236=) rs763458576 0.00012
NM_000814.6(GABRB3):c.683-7C>A rs759453899 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00011
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001134407.3(GRIN2A):c.949A>C (p.Lys317Gln) rs141326581 0.00011
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=) rs201939255 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935 0.00011
NM_004519.4(KCNQ3):c.1293C>T (p.Arg431=) rs563564763 0.00011
NM_004519.4(KCNQ3):c.2499C>T (p.Leu833=) rs773301064 0.00011
NM_007254.4(PNKP):c.579-4G>A rs371834726 0.00011
NM_007254.4(PNKP):c.816+14C>T rs376371644 0.00011
NM_012281.3(KCND2):c.33T>G (p.Phe11Leu) rs35950053 0.00011
NM_015192.4(PLCB1):c.1539C>T (p.Asp513=) rs199565459 0.00011
NM_015192.4(PLCB1):c.2868G>A (p.Gln956=) rs149312175 0.00011
NM_016373.4(WWOX):c.420C>T (p.Thr140=) rs374644172 0.00011
NM_016373.4(WWOX):c.786C>T (p.Ser262=) rs376709568 0.00011
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=) rs375894182 0.00011
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=) rs41292281 0.00011
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=) rs766161313 0.00011
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=) rs536342720 0.00011
NM_021098.3(CACNA1H):c.3744+8C>T rs373354560 0.00011
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=) rs748968251 0.00011
NM_032776.3(JMJD1C):c.1143A>G (p.Ser381=) rs182143794 0.00011
NM_032776.3(JMJD1C):c.2862T>C (p.His954=) rs370649422 0.00011
NM_152309.3(PIK3AP1):c.1941+13G>A rs369291853 0.00011
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) rs528905001 0.00011
NM_198904.4(GABRG2):c.1122A>G (p.Lys374=) rs776166431 0.00011
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_198904.4(GABRG2):c.162A>G (p.Thr54=) rs748255945 0.00011
NM_000814.6(GABRB3):c.1081-10G>A rs200137318 0.00010
NM_000814.6(GABRB3):c.1081-11C>T rs370945916 0.00010
NM_000814.6(GABRB3):c.1113G>A (p.Ser371=) rs139370891 0.00010
NM_000814.6(GABRB3):c.255C>T (p.Thr85=) rs372195395 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_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441 0.00010
NM_001040142.2(SCN2A):c.5850C>T (p.Leu1950=) rs147055283 0.00010
NM_004519.4(KCNQ3):c.1215C>T (p.Val405=) rs370250223 0.00010
NM_004519.4(KCNQ3):c.778-10A>G rs750579086 0.00010
NM_004519.4(KCNQ3):c.933+12C>T rs113965977 0.00010
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=) rs778178054 0.00010
NM_005076.5(CNTN2):c.1738C>T (p.Arg580Cys) rs185787873 0.00010
NM_005076.5(CNTN2):c.2760C>T (p.Ser920=) rs201621031 0.00010
NM_005076.5(CNTN2):c.537G>C (p.Thr179=) rs143379833 0.00010
NM_007254.4(PNKP):c.885C>T (p.Ala295=) rs763725051 0.00010
NM_007254.4(PNKP):c.936+16C>G rs369723968 0.00010
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574 0.00010
NM_016373.4(WWOX):c.1170C>T (p.Ser390=) rs372635911 0.00010
NM_018100.4(EFHC1):c.912T>C (p.Asn304=) rs373638109 0.00010
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=) rs755382298 0.00010
NM_021098.3(CACNA1H):c.2907+9C>T rs200631961 0.00010
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=) rs371310397 0.00010
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_139058.3(ARX):c.1104C>T (p.Thr368=) rs771822246 0.00010
NM_139058.3(ARX):c.1488C>T (p.Thr496=) rs773666007 0.00010
NM_173354.5(SIK1):c.1143C>T (p.Thr381=) rs201261435 0.00010
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) rs369897512 0.00010
NM_173354.5(SIK1):c.1594G>A (p.Ala532Thr) rs761551726 0.00010
NM_173354.5(SIK1):c.1623C>T (p.Pro541=) rs377361018 0.00010
NM_173354.5(SIK1):c.1875G>T (p.Leu625=) rs376554812 0.00010
NM_173354.5(SIK1):c.2208C>T (p.Thr736=) rs377024605 0.00010
NM_173354.5(SIK1):c.973-19C>T rs372086652 0.00010
NC_000023.11:g.18650425G>C rs1418563117 0.00009
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_000814.6(GABRB3):c.80+13G>A rs749065228 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_001040142.2(SCN2A):c.1306T>C (p.Leu436=) rs376323449 0.00009
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001040142.2(SCN2A):c.4110C>T (p.Thr1370=) rs148868382 0.00009
NM_001040142.2(SCN2A):c.4552-16A>T rs555368941 0.00009
NM_001040142.2(SCN2A):c.5541G>A (p.Val1847=) rs371704720 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.6654C>T (p.His2218=) rs372825476 0.00009
NM_001134407.3(GRIN2A):c.1007+13T>G rs199862009 0.00009
NM_001134407.3(GRIN2A):c.1652-14C>G rs375922984 0.00009
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=) rs144464666 0.00009
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001271.4(CHD2):c.1116G>A (p.Glu372=) rs147482358 0.00009
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg) rs753058189 0.00009
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr) rs754174173 0.00009
NM_001271.4(CHD2):c.753A>G (p.Glu251=) rs368486032 0.00009
NM_001323289.2(CDKL5):c.554+10C>T rs755385076 0.00009
NM_004408.4(DNM1):c.1200G>A (p.Thr400=) rs373198034 0.00009
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile) rs771062230 0.00009
NM_004408.4(DNM1):c.2364G>A (p.Val788=) rs904300233 0.00009
NM_004408.4(DNM1):c.797G>A (p.Arg266His) rs200136679 0.00009
NM_004519.4(KCNQ3):c.168G>C (p.Ala56=) rs777374664 0.00009
NM_004519.4(KCNQ3):c.954C>A (p.Gly318=) rs143224896 0.00009
NM_005076.5(CNTN2):c.1519+10G>A rs193063011 0.00009
NM_005076.5(CNTN2):c.1602C>T (p.His534=) rs760905192 0.00009
NM_007254.4(PNKP):c.151+11C>T rs587781113 0.00009
NM_007254.4(PNKP):c.151+18T>G rs55756709 0.00009
NM_007254.4(PNKP):c.579-18G>A rs199541652 0.00009
NM_007254.4(PNKP):c.822C>T (p.Asn274=) rs780677866 0.00009
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=) rs539497900 0.00009
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=) rs59906488 0.00009
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=) rs375091126 0.00009
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=) rs958144782 0.00009
NM_021098.3(CACNA1H):c.3744+9G>A rs377367672 0.00009
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=) rs72552043 0.00009
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=) rs372465474 0.00009
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=) rs377611664 0.00009
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=) rs368713417 0.00009
NM_032776.3(JMJD1C):c.2313A>G (p.Gln771=) rs200925734 0.00009
NM_173354.5(SIK1):c.1069G>A (p.Gly357Arg) rs771103431 0.00009
NM_173354.5(SIK1):c.807C>T (p.Ile269=) rs761649307 0.00009
NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=) rs762386331 0.00009
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_001040142.2(SCN2A):c.1384-10G>A rs752259362 0.00008
NM_001040142.2(SCN2A):c.1384-4C>G rs113191507 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.2292C>T (p.Ala764=) rs760963593 0.00008
NM_001040142.2(SCN2A):c.5568C>T (p.Asp1856=) rs144058186 0.00008
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553 0.00008
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395 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_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile) rs150574045 0.00008
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526 0.00008
NM_001199107.2(TBC1D24):c.1143-5G>A rs754105574 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063 0.00008
NM_001271.4(CHD2):c.4212A>G (p.Gln1404=) rs202074164 0.00008
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=) rs267608490 0.00008
NM_004408.4(DNM1):c.117C>T (p.Gly39=) rs142432944 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_004519.4(KCNQ3):c.478-15T>C rs1057520808 0.00008
NM_005076.5(CNTN2):c.1653C>T (p.Ile551=) rs147493920 0.00008
NM_005076.5(CNTN2):c.1758G>A (p.Thr586=) rs188155444 0.00008
NM_005076.5(CNTN2):c.2985T>C (p.Pro995=) rs138239566 0.00008
NM_012281.3(KCND2):c.1200A>G (p.Leu400=) rs759052844 0.00008
NM_012281.3(KCND2):c.810C>A (p.Ile270=) rs575666166 0.00008
NM_015192.4(PLCB1):c.100-17T>C rs370810694 0.00008
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=) rs144424401 0.00008
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=) rs755043976 0.00008
NM_021098.3(CACNA1H):c.801C>T (p.Val267=) rs372726042 0.00008
NM_032776.3(JMJD1C):c.4866T>C (p.Tyr1622=) rs373686710 0.00008
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656 0.00008
NM_139058.3(ARX):c.303A>G (p.Ala101=) rs797045295 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_173354.5(SIK1):c.1120-16C>T rs149663047 0.00008
NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu) rs181611369 0.00008
NM_173354.5(SIK1):c.808G>A (p.Ala270Thr) rs571627997 0.00008
NM_173354.5(SIK1):c.91C>G (p.Arg31Gly) rs147781218 0.00008
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_000811.3(GABRA6):c.1156G>A (p.Glu386Lys) rs773585316 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.957C>T (p.Ser319=) rs201565323 0.00007
NM_000834.5(GRIN2B):c.99C>A (p.Pro33=) rs77738206 0.00007
NM_001040142.2(SCN2A):c.3521-12C>T rs370419172 0.00007
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) rs139467768 0.00007
NM_001134407.3(GRIN2A):c.1533G>A (p.Ser511=) rs112848130 0.00007
NM_001134407.3(GRIN2A):c.1652-19T>C rs778659119 0.00007
NM_001134407.3(GRIN2A):c.2636A>G (p.Lys879Arg) rs183029507 0.00007
NM_001134407.3(GRIN2A):c.3276C>G (p.Ser1092=) rs775325646 0.00007
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067 0.00007
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406 0.00007
NM_001134407.3(GRIN2A):c.882C>T (p.Asp294=) rs201002710 0.00007
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631 0.00007
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00007
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122 0.00007
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala) rs754295120 0.00007
NM_001271.4(CHD2):c.2506-11T>G rs376323635 0.00007
NM_001271.4(CHD2):c.2578-18A>G rs375711428 0.00007
NM_001271.4(CHD2):c.2703G>A (p.Ala901=) rs776453723 0.00007
NM_001271.4(CHD2):c.2728-12C>G rs544624674 0.00007
NM_001271.4(CHD2):c.4977C>T (p.Ser1659=) rs769365893 0.00007
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001271.4(CHD2):c.984G>A (p.Gln328=) rs944181807 0.00007
NM_001323289.2(CDKL5):c.1233C>T (p.Ala411=) rs907733307 0.00007
NM_004408.4(DNM1):c.1422+18C>T rs747813685 0.00007
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met) rs772239774 0.00007
NM_004519.4(KCNQ3):c.1568+14G>A rs370848714 0.00007
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) rs752262787 0.00007
NM_005076.5(CNTN2):c.2649G>A (p.Lys883=) rs772173976 0.00007
NM_005076.5(CNTN2):c.843C>T (p.Ser281=) rs150754227 0.00007
NM_005076.5(CNTN2):c.846G>A (p.Pro282=) rs180849149 0.00007
NM_007254.4(PNKP):c.1008C>T (p.Phe336=) rs1474446608 0.00007
NM_007254.4(PNKP):c.1298+19C>T rs541129252 0.00007
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873 0.00007
NM_015192.4(PLCB1):c.1275G>A (p.Ala425=) rs143366963 0.00007
NM_015192.4(PLCB1):c.178-16C>T rs758638401 0.00007
NM_015192.4(PLCB1):c.2209-19T>C rs765382131 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=) rs372703745 0.00007
NM_016373.4(WWOX):c.951G>A (p.Thr317=) rs759801417 0.00007
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=) rs147877708 0.00007
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala) rs201449513 0.00007
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=) rs1043511168 0.00007
NM_021098.3(CACNA1H):c.2907+8C>G rs374392186 0.00007
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=) rs374946880 0.00007
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=) rs372640825 0.00007
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=) rs774253114 0.00007
NM_152309.3(PIK3AP1):c.1077A>G (p.Pro359=) rs751495080 0.00007
NM_173354.5(SIK1):c.1386G>A (p.Glu462=) rs772722600 0.00007
NM_173354.5(SIK1):c.1641C>T (p.Ser547=) rs767618062 0.00007
NM_173354.5(SIK1):c.2109G>A (p.Thr703=) rs752076447 0.00007
NM_198904.4(GABRG2):c.1153-7G>A rs372884176 0.00007
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_000814.6(GABRB3):c.1110A>G (p.Thr370=) rs200523834 0.00006
NM_000814.6(GABRB3):c.357C>T (p.Pro119=) rs370237352 0.00006
NM_000814.6(GABRB3):c.39C>T (p.Phe13=) rs761422251 0.00006
NM_000814.6(GABRB3):c.627G>A (p.Pro209=) rs146431931 0.00006
NM_000814.6(GABRB3):c.81-16C>T rs769413892 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.2001C>T (p.Ser667=) rs200392452 0.00006
NM_000834.5(GRIN2B):c.2017A>C (p.Arg673=) rs149279923 0.00006
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_001040142.2(SCN2A):c.3015T>C (p.Ile1005=) rs758652224 0.00006
NM_001040142.2(SCN2A):c.3330A>C (p.Gly1110=) rs138143967 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val) rs201124054 0.00006
NM_001040142.2(SCN2A):c.4221C>T (p.Asn1407=) rs747792907 0.00006
NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=) rs780514937 0.00006
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009 0.00006
NM_001134407.3(GRIN2A):c.1164C>T (p.Ala388=) rs151137679 0.00006
NM_001134407.3(GRIN2A):c.2070G>A (p.Thr690=) rs141924924 0.00006
NM_001134407.3(GRIN2A):c.2196C>T (p.Ala732=) rs748323416 0.00006
NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=) rs80138441 0.00006
NM_001134407.3(GRIN2A):c.2765C>T (p.Ala922Val) rs200037904 0.00006
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln) rs148669437 0.00006
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=) rs200850130 0.00006
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn) rs540445580 0.00006
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803 0.00006
NM_001134407.3(GRIN2A):c.4259A>G (p.Asn1420Ser) rs775911833 0.00006
NM_001134407.3(GRIN2A):c.559G>A (p.Val187Ile) rs751692867 0.00006
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124 0.00006
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 0.00006
NM_001271.4(CHD2):c.1052+11C>T rs558895083 0.00006
NM_001271.4(CHD2):c.1233C>T (p.Pro411=) rs202188833 0.00006
NM_001271.4(CHD2):c.1377+13T>C rs375615448 0.00006
NM_001271.4(CHD2):c.180T>G (p.Ser60=) rs747415863 0.00006
NM_001271.4(CHD2):c.2724G>A (p.Lys908=) rs775276311 0.00006
NM_001271.4(CHD2):c.3237+14A>G rs763922777 0.00006
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=) rs147115056 0.00006
NM_001271.4(CHD2):c.4907-15T>A rs372145426 0.00006
NM_001271.4(CHD2):c.4968A>G (p.Pro1656=) rs909107415 0.00006
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn) rs61752830 0.00006
NM_001271.4(CHD2):c.4986C>T (p.His1662=) rs139082993 0.00006
NM_001271.4(CHD2):c.826+14G>A rs189583903 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.603T>C (p.Leu201=) rs763478005 0.00006
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg) rs1481627825 0.00006
NM_003159.3(CDKL5):c.3004G>A (p.Val1002Ile) rs987192406 0.00006
NM_004408.4(DNM1):c.1350G>T (p.Pro450=) rs147897973 0.00006
NM_004408.4(DNM1):c.725T>C (p.Ile242Thr) rs138357499 0.00006
NM_004408.4(DNM1):c.849+7G>A rs779667787 0.00006
NM_004408.4(DNM1):c.992+13C>A rs762733307 0.00006
NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=) rs199722269 0.00006
NM_004519.4(KCNQ3):c.2454C>T (p.Phe818=) rs375379466 0.00006
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp) rs185628977 0.00006
NM_004519.4(KCNQ3):c.778-17A>C rs373349894 0.00006
NM_005076.5(CNTN2):c.1114C>T (p.Arg372Trp) rs538644037 0.00006
NM_005076.5(CNTN2):c.1641C>T (p.Asp547=) rs150567846 0.00006
NM_005076.5(CNTN2):c.186C>T (p.Arg62=) rs762058787 0.00006
NM_005076.5(CNTN2):c.1976-14C>G rs377135513 0.00006
NM_005076.5(CNTN2):c.238A>G (p.Met80Val) rs776309126 0.00006
NM_005076.5(CNTN2):c.2432-12A>G rs750433164 0.00006
NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn) rs201107921 0.00006
NM_005076.5(CNTN2):c.703C>T (p.Arg235Trp) rs747208674 0.00006
NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln) rs2229867 0.00006
NM_005076.5(CNTN2):c.786C>T (p.Phe262=) rs369368742 0.00006
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558 0.00006
NM_007254.4(PNKP):c.1098G>A (p.Glu366=) rs755340060 0.00006
NM_007254.4(PNKP):c.456G>A (p.Lys152=) rs752339576 0.00006
NM_007254.4(PNKP):c.817-20C>G rs201778535 0.00006
NM_012281.3(KCND2):c.1278+17G>A rs374091534 0.00006
NM_012281.3(KCND2):c.21G>C (p.Ala7=) rs369141117 0.00006
NM_015192.4(PLCB1):c.1167+14A>G rs563791103 0.00006
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=) rs202109404 0.00006
NM_015192.4(PLCB1):c.1888+9A>C rs371050904 0.00006
NM_015192.4(PLCB1):c.2028C>T (p.Asn676=) rs142083540 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015192.4(PLCB1):c.2982C>T (p.Leu994=) rs770134240 0.00006
NM_015192.4(PLCB1):c.695+10C>G rs763454386 0.00006
NM_015192.4(PLCB1):c.912C>T (p.Asn304=) rs374061975 0.00006
NM_015192.4(PLCB1):c.975T>C (p.Tyr325=) rs372723242 0.00006
NM_016373.4(WWOX):c.840C>G (p.Leu280=) rs772356641 0.00006
NM_018100.4(EFHC1):c.1279-4G>C rs372831217 0.00006
NM_018100.4(EFHC1):c.1335T>C (p.Ala445=) rs767652099 0.00006
NM_018100.4(EFHC1):c.1338C>T (p.Thr446=) rs546464826 0.00006
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=) rs774640110 0.00006
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=) rs369201702 0.00006
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=) rs137869409 0.00006
NM_018100.4(EFHC1):c.1852-6C>G rs372507832 0.00006
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862 0.00006
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=) rs56990251 0.00006
NM_021098.3(CACNA1H):c.3155-5C>T rs143582273 0.00006
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=) rs555890424 0.00006
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=) rs369508525 0.00006
NM_021098.3(CACNA1H):c.4350+16G>A rs372361783 0.00006
NM_021098.3(CACNA1H):c.4567-4A>G rs1055632728 0.00006
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021098.3(CACNA1H):c.5039+16C>T rs58019636 0.00006
NM_021098.3(CACNA1H):c.5173+11G>A rs369914581 0.00006
NM_021098.3(CACNA1H):c.5174-20C>T rs749624753 0.00006
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=) rs58819745 0.00006
NM_021098.3(CACNA1H):c.6049-10G>A rs199547941 0.00006
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=) rs375725132 0.00006
NM_032776.3(JMJD1C):c.3004A>C (p.Asn1002His) rs761151454 0.00006
NM_032776.3(JMJD1C):c.3068G>A (p.Arg1023His) rs200143103 0.00006
NM_032776.3(JMJD1C):c.3345A>C (p.Ser1115=) rs368304419 0.00006
NM_032776.3(JMJD1C):c.448-10A>G rs368431973 0.00006
NM_032776.3(JMJD1C):c.4724T>C (p.Val1575Ala) rs185530790 0.00006
NM_032776.3(JMJD1C):c.7590C>T (p.His2530=) rs375031134 0.00006
NM_139058.3(ARX):c.237G>A (p.Leu79=) rs1212876092 0.00006
NM_139058.3(ARX):c.602C>A (p.Pro201Gln) rs1484238484 0.00006
NM_139058.3(ARX):c.603G>A (p.Pro201=) rs1271214509 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.2238C>T (p.Asn746=) rs148107187 0.00006
NM_152309.3(PIK3AP1):c.60C>T (p.Ala20=) rs201085961 0.00006
NM_173354.5(SIK1):c.1137T>C (p.Leu379=) rs769697033 0.00006
NM_173354.5(SIK1):c.1245+16G>A rs766185392 0.00006
NM_173354.5(SIK1):c.1356G>A (p.Pro452=) rs762697666 0.00006
NM_173354.5(SIK1):c.1744+7C>G rs1348743249 0.00006
NM_173354.5(SIK1):c.1920C>T (p.Gly640=) rs372590689 0.00006
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) rs34614061 0.00006
NM_173354.5(SIK1):c.207G>A (p.Glu69=) rs201818967 0.00006
NM_173354.5(SIK1):c.2121G>A (p.Pro707=) rs374313941 0.00006
NM_173354.5(SIK1):c.27G>A (p.Ala9=) rs757161757 0.00006
NM_173354.5(SIK1):c.306C>T (p.Val102=) rs201331473 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173354.5(SIK1):c.972+15A>G rs769126173 0.00006
NM_173354.5(SIK1):c.999C>T (p.His333=) rs758222972 0.00006
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.36A>T (p.Ser12=) rs762058667 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.632-6C>T rs199883385 0.00006
NM_198904.4(GABRG2):c.690C>T (p.Gly230=) rs747988447 0.00006
NM_198904.4(GABRG2):c.999A>T (p.Thr333=) rs377638785 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_000814.6(GABRB3):c.1338T>C (p.Asn446=) rs370026053 0.00005
NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn) rs375461837 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.514G>A (p.Val172Ile) rs201377003 0.00005
NM_000834.5(GRIN2B):c.975C>T (p.His325=) rs200380868 0.00005
NM_001040142.2(SCN2A):c.1177-16C>G rs553983883 0.00005
NM_001040142.2(SCN2A):c.2661A>G (p.Val887=) rs749540280 0.00005
NM_001040142.2(SCN2A):c.5043T>C (p.Asn1681=) rs770118417 0.00005
NM_001040142.2(SCN2A):c.5217A>C (p.Gly1739=) rs2227899 0.00005
NM_001040142.2(SCN2A):c.789G>A (p.Ala263=) rs775625143 0.00005
NM_001040142.2(SCN2A):c.915T>A (p.Thr305=) rs1193774137 0.00005
NM_001134407.3(GRIN2A):c.1509A>G (p.Gln503=) rs1261235589 0.00005
NM_001134407.3(GRIN2A):c.2007+14G>C rs571971134 0.00005
NM_001134407.3(GRIN2A):c.2735C>G (p.Ser912Cys) rs200588845 0.00005
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044 0.00005
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342 0.00005
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=) rs758864728 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=) rs199865687 0.00005
NM_001199107.2(TBC1D24):c.1525+17G>A rs537260143 0.00005
NM_001199107.2(TBC1D24):c.768C>T (p.Ala256=) rs778001053 0.00005
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256 0.00005
NM_001271.4(CHD2):c.1719+12A>G rs754059204 0.00005
NM_001271.4(CHD2):c.2562T>C (p.Asn854=) rs1035687846 0.00005
NM_001271.4(CHD2):c.2835C>T (p.Thr945=) rs752124959 0.00005
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=) rs565686460 0.00005
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=) rs138836603 0.00005
NM_001271.4(CHD2):c.5154-19C>T rs777949860 0.00005
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057 0.00005
NM_004408.4(DNM1):c.1422+7C>A rs761674210 0.00005
NM_004408.4(DNM1):c.1893+12G>A rs376700785 0.00005
NM_004408.4(DNM1):c.2226C>T (p.Ile742=) rs760982623 0.00005
NM_004519.4(KCNQ3):c.*7504C>G rs532052931 0.00005
NM_004519.4(KCNQ3):c.1590T>C (p.Tyr530=) rs757378151 0.00005
NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=) rs759776061 0.00005
NM_005076.5(CNTN2):c.261T>C (p.Arg87=) rs767771094 0.00005
NM_005076.5(CNTN2):c.609C>T (p.Gly203=) rs762080946 0.00005
NM_005076.5(CNTN2):c.699T>C (p.Asp233=) rs370282258 0.00005
NM_005076.5(CNTN2):c.974-12G>C rs201080048 0.00005
NM_007254.4(PNKP):c.1126+7G>A rs368201882 0.00005
NM_007254.4(PNKP):c.1387-48_1387-32del rs537912514 0.00005
NM_007254.4(PNKP):c.1448+12G>A rs770634541 0.00005
NM_007254.4(PNKP):c.351T>C (p.Asp117=) rs545664057 0.00005
NM_012281.3(KCND2):c.1173G>A (p.Ser391=) rs367909110 0.00005
NM_012281.3(KCND2):c.122C>T (p.Ala41Val) rs775640968 0.00005
NM_012281.3(KCND2):c.1674G>A (p.Thr558=) rs142262674 0.00005
NM_012281.3(KCND2):c.51C>T (p.Ile17=) rs751910698 0.00005
NM_015192.4(PLCB1):c.114T>C (p.Val38=) rs146304198 0.00005
NM_015192.4(PLCB1):c.1470C>T (p.Tyr490=) rs13042803 0.00005
NM_015192.4(PLCB1):c.1536C>T (p.Asp512=) rs544749418 0.00005
NM_015192.4(PLCB1):c.1763+17G>A rs377762613 0.00005
NM_015192.4(PLCB1):c.1767T>C (p.Tyr589=) rs554169035 0.00005
NM_015192.4(PLCB1):c.2091G>A (p.Val697=) rs556016271 0.00005
NM_016373.4(WWOX):c.1077C>T (p.Thr359=) rs150912992 0.00005
NM_016373.4(WWOX):c.231-9T>C rs766689304 0.00005
NM_016373.4(WWOX):c.315A>G (p.Gln105=) rs752822745 0.00005
NM_016373.4(WWOX):c.324C>T (p.Asp108=) rs377442022 0.00005
NM_016373.4(WWOX):c.630C>T (p.Asn210=) rs547619401 0.00005
NM_016373.4(WWOX):c.867G>A (p.Ala289=) rs755002954 0.00005
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg) rs200328198 0.00005
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=) rs370061462 0.00005
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=) rs960225573 0.00005
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=) rs746896203 0.00005
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=) rs560635024 0.00005
NM_021098.3(CACNA1H):c.3155-4G>A rs543267343 0.00005
NM_021098.3(CACNA1H):c.4039-17C>T rs775820161 0.00005
NM_021098.3(CACNA1H):c.4223+14C>T rs538104013 0.00005
NM_021098.3(CACNA1H):c.4778-4G>A rs779949902 0.00005
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=) rs754501360 0.00005
NM_021098.3(CACNA1H):c.5888-16T>A rs965860206 0.00005
NM_021098.3(CACNA1H):c.699C>T (p.Val233=) rs200398792 0.00005
NM_032776.3(JMJD1C):c.1008A>T (p.Ser336=) rs377508666 0.00005
NM_032776.3(JMJD1C):c.3162A>G (p.Ser1054=) rs377124953 0.00005
NM_032776.3(JMJD1C):c.3693T>G (p.Thr1231=) rs377625005 0.00005
NM_032776.3(JMJD1C):c.4373T>C (p.Leu1458Ser) rs200797706 0.00005
NM_032776.3(JMJD1C):c.4611A>G (p.Gln1537=) rs368296796 0.00005
NM_032776.3(JMJD1C):c.5445A>G (p.Gln1815=) rs559853876 0.00005
NM_032776.3(JMJD1C):c.5862+8A>G rs770639668 0.00005
NM_032776.3(JMJD1C):c.6522G>A (p.Lys2174=) rs771233853 0.00005
NM_032776.3(JMJD1C):c.7230A>G (p.Ser2410=) rs371366450 0.00005
NM_139058.3(ARX):c.1263G>C (p.Pro421=) rs923672115 0.00005
NM_139058.3(ARX):c.642C>A (p.Ala214=) rs997439358 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.712+18A>G rs375742773 0.00005
NM_152309.3(PIK3AP1):c.936C>T (p.Ser312=) rs763294320 0.00005
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_173354.5(SIK1):c.1120-9C>T rs368589807 0.00005
NM_173354.5(SIK1):c.1458G>A (p.Ala486=) rs147572735 0.00005
NM_173354.5(SIK1):c.1463-19C>T rs200243090 0.00005
NM_173354.5(SIK1):c.1628T>C (p.Leu543Pro) rs144694596 0.00005
NM_173354.5(SIK1):c.2013C>T (p.Pro671=) rs757730365 0.00005
NM_173354.5(SIK1):c.2151C>T (p.Gly717=) rs532529872 0.00005
NM_173354.5(SIK1):c.338-9G>T rs763842347 0.00005
NM_173354.5(SIK1):c.642G>A (p.Leu214=) rs761176948 0.00005
NM_173354.5(SIK1):c.880G>A (p.Ala294Thr) rs776214001 0.00005
NM_173354.5(SIK1):c.976C>T (p.Leu326=) rs776898340 0.00005
NM_198904.4(GABRG2):c.632-10C>A rs144248417 0.00005
NC_000023.11:g.18646040A>G rs774743991 0.00004
NM_000814.6(GABRB3):c.1057C>T (p.Arg353Cys) rs775988401 0.00004
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His) rs185383468 0.00004
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) rs76962261 0.00004
NM_000814.6(GABRB3):c.471G>A (p.Thr157=) rs143528720 0.00004
NM_000814.6(GABRB3):c.549C>T (p.Gly183=) rs780056442 0.00004
NM_000814.6(GABRB3):c.650G>A (p.Arg217His) rs121913125 0.00004
NM_000814.6(GABRB3):c.683-4A>G rs776560822 0.00004
NM_000814.6(GABRB3):c.81-4C>G rs1223039173 0.00004
NM_000814.6(GABRB3):c.87C>T (p.Asn29=) rs772263479 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.2661C>A (p.Pro887=) rs201157664 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.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_001040142.2(SCN2A):c.1386G>A (p.Ala462=) rs145912536 0.00004
NM_001040142.2(SCN2A):c.1527A>G (p.Lys509=) rs150087890 0.00004
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546 0.00004
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973 0.00004
NM_001040142.2(SCN2A):c.1605A>G (p.Lys535=) rs367647572 0.00004
NM_001040142.2(SCN2A):c.1621T>C (p.Leu541=) rs763631456 0.00004
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.1953T>C (p.Asn651=) rs199722574 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3348T>C (p.Asn1116=) rs781717883 0.00004
NM_001040142.2(SCN2A):c.3411A>G (p.Ala1137=) rs112270017 0.00004
NM_001040142.2(SCN2A):c.3676-20T>C rs1057522535 0.00004
NM_001040142.2(SCN2A):c.3753C>T (p.Tyr1251=) rs770116598 0.00004
NM_001040142.2(SCN2A):c.4551+10A>G rs767957352 0.00004
NM_001040142.2(SCN2A):c.4552-14A>G rs775130301 0.00004
NM_001040142.2(SCN2A):c.4842G>T (p.Leu1614=) rs148604854 0.00004
NM_001040142.2(SCN2A):c.5022C>T (p.Tyr1674=) rs186157680 0.00004
NM_001040142.2(SCN2A):c.5097C>G (p.Thr1699=) rs950010627 0.00004
NM_001040142.2(SCN2A):c.5367T>C (p.Pro1789=) rs761507234 0.00004
NM_001040142.2(SCN2A):c.605+19T>C rs373120658 0.00004
NM_001040142.2(SCN2A):c.840A>G (p.Gln280=) rs377200041 0.00004
NM_001127644.2(GABRA1):c.1218A>G (p.Pro406=) rs371392768 0.00004
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701 0.00004
NM_001127644.2(GABRA1):c.216C>T (p.Ile72=) rs200716712 0.00004
NM_001127644.2(GABRA1):c.476+16C>T rs780581747 0.00004
NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile) rs756553428 0.00004
NM_001127644.2(GABRA1):c.840A>G (p.Pro280=) rs150497014 0.00004
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) rs777911034 0.00004
NM_001127644.2(GABRA1):c.966C>T (p.Ala322=) rs201133616 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 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_001134407.3(GRIN2A):c.1008-9C>G rs111844068 0.00004
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=) rs368406915 0.00004
NM_001134407.3(GRIN2A):c.136G>A (p.Val46Met) rs796052542 0.00004
NM_001134407.3(GRIN2A):c.193C>T (p.Leu65=) rs753806713 0.00004
NM_001134407.3(GRIN2A):c.222G>A (p.Met74Ile) rs553783914 0.00004
NM_001134407.3(GRIN2A):c.2356+10C>T rs780647266 0.00004
NM_001134407.3(GRIN2A):c.252G>T (p.Thr84=) rs140136379 0.00004
NM_001134407.3(GRIN2A):c.2550G>A (p.Thr850=) rs750224605 0.00004
NM_001134407.3(GRIN2A):c.2581T>C (p.Phe861Leu) rs374474575 0.00004
NM_001134407.3(GRIN2A):c.2663C>T (p.Thr888Met) rs149698593 0.00004
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665 0.00004
NM_001134407.3(GRIN2A):c.3003C>T (p.Ser1001=) rs199551487 0.00004
NM_001134407.3(GRIN2A):c.3120G>C (p.Glu1040Asp) rs756663920 0.00004
NM_001134407.3(GRIN2A):c.3138A>G (p.Leu1046=) rs773244936 0.00004
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783 0.00004
NM_001134407.3(GRIN2A):c.3366T>G (p.Gly1122=) rs1060504864 0.00004
NM_001134407.3(GRIN2A):c.3378T>C (p.Pro1126=) rs760073529 0.00004
NM_001134407.3(GRIN2A):c.3685A>T (p.Thr1229Ser) rs747136651 0.00004
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg) rs142113044 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001134407.3(GRIN2A):c.3909C>T (p.Asp1303=) rs765744766 0.00004
NM_001134407.3(GRIN2A):c.3919C>T (p.Pro1307Ser) rs148827608 0.00004
NM_001134407.3(GRIN2A):c.3953G>A (p.Arg1318Gln) rs149745535 0.00004
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001134407.3(GRIN2A):c.4185G>A (p.Ala1395=) rs778429009 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001134407.3(GRIN2A):c.744C>T (p.Leu248=) rs928714067 0.00004
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=) rs774169125 0.00004
NM_001134407.3(GRIN2A):c.76G>T (p.Ala26Ser) rs751198815 0.00004
NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser) rs568484876 0.00004
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu) rs367543120 0.00004
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419 0.00004
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=) rs372317366 0.00004
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) rs779117497 0.00004
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) rs555276293 0.00004
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) rs144714321 0.00004
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478 0.00004
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450 0.00004
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=) rs764252146 0.00004
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) rs777237669 0.00004
NM_001199107.2(TBC1D24):c.983+16T>A rs1355546058 0.00004
NM_001199107.2(TBC1D24):c.984-12C>T rs762896980 0.00004
NM_001271.4(CHD2):c.1359C>T (p.Ile453=) rs777978644 0.00004
NM_001271.4(CHD2):c.1809+3G>A rs778257286 0.00004
NM_001271.4(CHD2):c.2601A>G (p.Thr867=) rs145367388 0.00004
NM_001271.4(CHD2):c.3012G>A (p.Thr1004=) rs775751349 0.00004
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275 0.00004
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=) rs547927047 0.00004
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=) rs772169751 0.00004
NM_001271.4(CHD2):c.4592+17C>T rs184611897 0.00004
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=) rs766244767 0.00004
NM_001271.4(CHD2):c.600A>G (p.Gly200=) rs1057522302 0.00004
NM_001271.4(CHD2):c.987A>G (p.Gln329=) rs758605280 0.00004
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 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.2573G>A (p.Arg858His) rs759083770 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 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_004408.4(DNM1):c.1422+9C>T rs760832551 0.00004
NM_004408.4(DNM1):c.1493+16G>C rs746358072 0.00004
NM_004408.4(DNM1):c.2238C>T (p.Asn746=) rs1057521629 0.00004
NM_004408.4(DNM1):c.2535-20G>C rs753705712 0.00004
NM_004408.4(DNM1):c.386-19C>G rs772469890 0.00004
NM_004408.4(DNM1):c.589+10C>T rs987855255 0.00004
NM_004408.4(DNM1):c.589+15G>A rs535456711 0.00004
NM_004408.4(DNM1):c.850-18C>T rs763158060 0.00004
NM_004408.4(DNM1):c.850-8A>G rs750891102 0.00004
NM_004519.4(KCNQ3):c.1077G>A (p.Val359=) rs750375617 0.00004
NM_004519.4(KCNQ3):c.1489G>A (p.Ala497Thr) rs368279666 0.00004
NM_004519.4(KCNQ3):c.1563C>T (p.Ala521=) rs186310292 0.00004
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496 0.00004
NM_004519.4(KCNQ3):c.1677C>A (p.Ser559=) rs377613824 0.00004
NM_004519.4(KCNQ3):c.2334G>A (p.Gln778=) rs373157392 0.00004
NM_004519.4(KCNQ3):c.2544C>T (p.Ser848=) rs766822002 0.00004
NM_004519.4(KCNQ3):c.616C>T (p.Leu206=) rs770952684 0.00004
NM_004519.4(KCNQ3):c.714G>A (p.Leu238=) rs377171734 0.00004
NM_004519.4(KCNQ3):c.912A>G (p.Ala304=) rs762775355 0.00004
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961 0.00004
NM_005076.5(CNTN2):c.1241-3T>C rs200577280 0.00004
NM_005076.5(CNTN2):c.1368G>A (p.Thr456=) rs139907473 0.00004
NM_005076.5(CNTN2):c.1391+7C>A rs748759051 0.00004
NM_005076.5(CNTN2):c.1392-6C>T rs749779814 0.00004
NM_005076.5(CNTN2):c.1728C>T (p.Asn576=) rs766092588 0.00004
NM_005076.5(CNTN2):c.1773G>A (p.Thr591=) rs760280337 0.00004
NM_005076.5(CNTN2):c.1788G>A (p.Ala596=) rs151320977 0.00004
NM_005076.5(CNTN2):c.2001C>T (p.Ala667=) rs1307242710 0.00004
NM_005076.5(CNTN2):c.3084C>T (p.Ser1028=) rs374947887 0.00004
NM_005076.5(CNTN2):c.318C>T (p.Ala106=) rs372422500 0.00004
NM_005076.5(CNTN2):c.488-5C>T rs928434851 0.00004
NM_005076.5(CNTN2):c.534G>A (p.Pro178=) rs151020999 0.00004
NM_005076.5(CNTN2):c.831C>T (p.Asp277=) rs199743054 0.00004
NM_005076.5(CNTN2):c.867C>T (p.Pro289=) rs143847367 0.00004
NM_005076.5(CNTN2):c.912C>T (p.Tyr304=) rs762026633 0.00004
NM_007254.4(PNKP):c.1126+14T>G rs971508207 0.00004
NM_007254.4(PNKP):c.1188+17G>A rs545237601 0.00004
NM_007254.4(PNKP):c.1189-11C>T rs756362768 0.00004
NM_007254.4(PNKP):c.1329C>T (p.Val443=) rs796052846 0.00004
NM_007254.4(PNKP):c.1387-40_1387-39del rs758626895 0.00004
NM_007254.4(PNKP):c.1401G>A (p.Thr467=) rs374547164 0.00004
NM_007254.4(PNKP):c.1449-19C>A rs772322533 0.00004
NM_007254.4(PNKP):c.199-15C>T rs201254691 0.00004
NM_007254.4(PNKP):c.264G>T (p.Gly88=) rs766589333 0.00004
NM_007254.4(PNKP):c.312G>A (p.Leu104=) rs375257269 0.00004
NM_007254.4(PNKP):c.39G>A (p.Glu13=) rs565350498 0.00004
NM_007254.4(PNKP):c.579-19C>T rs368764301 0.00004
NM_007254.4(PNKP):c.636+13G>A rs745577158 0.00004
NM_007254.4(PNKP):c.937-16C>T rs755267515 0.00004
NM_012281.3(KCND2):c.1278+16C>T rs762461586 0.00004
NM_012281.3(KCND2):c.1635A>G (p.Val545=) rs763513144 0.00004
NM_012281.3(KCND2):c.1715+16C>T rs375239098 0.00004
NM_012281.3(KCND2):c.1788A>G (p.Ala596=) rs1339923869 0.00004
NM_012281.3(KCND2):c.27G>T (p.Leu9=) rs753709368 0.00004
NM_012281.3(KCND2):c.31T>C (p.Phe11Leu) rs142392153 0.00004
NM_012281.3(KCND2):c.48T>C (p.Ala16=) rs141637732 0.00004
NM_012281.3(KCND2):c.765C>T (p.Tyr255=) rs748088278 0.00004
NM_012281.3(KCND2):c.949C>T (p.Leu317=) rs3814462 0.00004
NM_015192.4(PLCB1):c.1168-16G>A rs369578844 0.00004
NM_015192.4(PLCB1):c.1242T>C (p.His414=) rs747192374 0.00004
NM_015192.4(PLCB1):c.138C>T (p.Asp46=) rs368510730 0.00004
NM_015192.4(PLCB1):c.1545T>C (p.Asp515=) rs201832361 0.00004
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.2656+7C>T rs370608944 0.00004
NM_015192.4(PLCB1):c.2930+8C>T rs767172522 0.00004
NM_015192.4(PLCB1):c.2979C>T (p.Asp993=) rs148394888 0.00004
NM_015192.4(PLCB1):c.3009A>G (p.Gln1003=) rs761097244 0.00004
NM_015192.4(PLCB1):c.369A>G (p.Gln123=) rs755560918 0.00004
NM_015192.4(PLCB1):c.852C>T (p.Leu284=) rs147648227 0.00004
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) rs780939546 0.00004
NM_016373.4(WWOX):c.114C>T (p.Thr38=) rs372635270 0.00004
NM_016373.4(WWOX):c.231-11C>G rs372011945 0.00004
NM_016373.4(WWOX):c.321C>T (p.Tyr107=) rs373306276 0.00004
NM_016373.4(WWOX):c.517-10C>G rs199820033 0.00004
NM_016373.4(WWOX):c.605+20G>A rs372217196 0.00004
NM_016373.4(WWOX):c.739T>C (p.Leu247=) rs1195368309 0.00004
NM_016373.4(WWOX):c.798A>C (p.Thr266=) rs377727422 0.00004
NM_016373.4(WWOX):c.855C>T (p.Asn285=) rs767903006 0.00004
NM_018100.4(EFHC1):c.1017G>A (p.Gly339=) rs144447906 0.00004
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018100.4(EFHC1):c.1602T>C (p.His534=) rs570700601 0.00004
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=) rs1045298708 0.00004
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys) rs200375854 0.00004
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=) rs751812661 0.00004
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=) rs753841406 0.00004
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp) rs267606697 0.00004
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=) rs372206587 0.00004
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=) rs745368829 0.00004
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=) rs769118582 0.00004
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=) rs767435491 0.00004
NM_021098.3(CACNA1H):c.4224-7C>T rs768524941 0.00004
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=) rs761380706 0.00004
NM_021098.3(CACNA1H):c.6049-11C>T rs764862065 0.00004
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=) rs369048631 0.00004
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=) rs1362184958 0.00004
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=) rs368014968 0.00004
NM_032776.3(JMJD1C):c.159G>A (p.Pro53=) rs758488215 0.00004
NM_032776.3(JMJD1C):c.2481G>A (p.Ala827=) rs548904134 0.00004
NM_032776.3(JMJD1C):c.3498T>C (p.His1166=) rs374137055 0.00004
NM_032776.3(JMJD1C):c.3741A>T (p.Ser1247=) rs150646202 0.00004
NM_032776.3(JMJD1C):c.3870T>C (p.His1290=) rs978230070 0.00004
NM_032776.3(JMJD1C):c.4033C>T (p.Leu1345=) rs777062654 0.00004
NM_032776.3(JMJD1C):c.4038A>G (p.Ala1346=) rs765585678 0.00004
NM_032776.3(JMJD1C):c.4062C>T (p.Ile1354=) rs771859624 0.00004
NM_032776.3(JMJD1C):c.4437T>C (p.Phe1479=) rs369575747 0.00004
NM_032776.3(JMJD1C):c.489G>A (p.Pro163=) rs544692517 0.00004
NM_032776.3(JMJD1C):c.5103T>C (p.Asp1701=) rs759131369 0.00004
NM_032776.3(JMJD1C):c.5122C>T (p.Leu1708=) rs372791018 0.00004
NM_032776.3(JMJD1C):c.5904G>C (p.Leu1968=) rs747979653 0.00004
NM_032776.3(JMJD1C):c.6402G>A (p.Glu2134=) rs372436233 0.00004
NM_032776.3(JMJD1C):c.663C>T (p.Ile221=) rs144745368 0.00004
NM_032776.3(JMJD1C):c.6888A>G (p.Lys2296=) rs765785670 0.00004
NM_032776.3(JMJD1C):c.7386G>A (p.Ala2462=) rs540987742 0.00004
NM_032776.3(JMJD1C):c.7401+12C>T rs374811978 0.00004
NM_139058.3(ARX):c.1389C>T (p.Ser463=) rs760617042 0.00004
NM_139058.3(ARX):c.855G>A (p.Glu285=) rs139301257 0.00004
NM_139058.3(ARX):c.921C>A (p.Gly307=) rs398124519 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.1881C>G (p.Leu627=) rs753071212 0.00004
NM_152309.3(PIK3AP1):c.567+10G>C rs367980584 0.00004
NM_152309.3(PIK3AP1):c.568-15G>A rs575594175 0.00004
NM_172107.4(KCNQ2):c.691-14C>T rs200448016 0.00004
NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu) rs757476600 0.00004
NM_173354.5(SIK1):c.1197C>T (p.Ser399=) rs139566516 0.00004
NM_173354.5(SIK1):c.1745-20C>T rs758494600 0.00004
NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln) rs372399294 0.00004
NM_173354.5(SIK1):c.1887C>T (p.His629=) rs771569126 0.00004
NM_173354.5(SIK1):c.2130G>A (p.Pro710=) rs1425273742 0.00004
NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys) rs754231467 0.00004
NM_173354.5(SIK1):c.338-13T>G rs774201798 0.00004
NM_173354.5(SIK1):c.456C>T (p.Thr152=) rs776186797 0.00004
NM_173354.5(SIK1):c.861C>T (p.Pro287=) rs142816600 0.00004
NM_198904.4(GABRG2):c.107+11C>A rs376576632 0.00004
NM_198904.4(GABRG2):c.1153-8C>T rs771660227 0.00004
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val) rs375785093 0.00004
NM_198904.4(GABRG2):c.219G>A (p.Leu73=) rs753076158 0.00004
NM_198904.4(GABRG2):c.259+19C>T rs758196181 0.00004
NM_198904.4(GABRG2):c.52G>C (p.Val18Leu) rs141106898 0.00004
NM_198904.4(GABRG2):c.579A>G (p.Gln193=) rs751723547 0.00004
NM_198904.4(GABRG2):c.770-18A>C rs765653579 0.00004
NM_198904.4(GABRG2):c.942A>G (p.Thr314=) rs377502016 0.00004
NM_198904.4(GABRG2):c.972A>G (p.Lys324=) rs369614121 0.00004
NC_000023.11:g.18653424C>A rs1247449149 0.00003
NC_000023.11:g.18653448G>A rs763292733 0.00003
NM_000814.6(GABRB3):c.1068C>T (p.Ser356=) rs369761963 0.00003
NM_000814.6(GABRB3):c.1081-17A>G rs963453392 0.00003
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val) rs377215030 0.00003
NM_000814.6(GABRB3):c.156A>T (p.Leu52=) rs368193507 0.00003
NM_000814.6(GABRB3):c.174T>G (p.Gly58=) rs749519657 0.00003
NM_000814.6(GABRB3):c.180G>A (p.Pro60=) rs775865564 0.00003
NM_000814.6(GABRB3):c.321G>A (p.Thr107=) rs367761610 0.00003
NM_000814.6(GABRB3):c.321G>T (p.Thr107=) rs367761610 0.00003
NM_000814.6(GABRB3):c.417C>T (p.Arg139=) rs933729675 0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846 0.00003
NM_000814.6(GABRB3):c.80+12G>A rs926231041 0.00003
NM_000814.6(GABRB3):c.836-20C>T rs369364757 0.00003
NM_000814.6(GABRB3):c.936C>T (p.Gly312=) rs147532209 0.00003
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) rs77608123 0.00003
NM_000834.5(GRIN2B):c.1125+5G>A rs3751257 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.2644T>G (p.Ser882Ala) rs145602964 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.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.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_001040142.2(SCN2A):c.1095G>A (p.Thr365=) rs2227900 0.00003
NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=) rs532681917 0.00003
NM_001040142.2(SCN2A):c.132G>A (p.Glu44=) rs781272663 0.00003
NM_001040142.2(SCN2A):c.1836C>T (p.Phe612=) rs747402663 0.00003
NM_001040142.2(SCN2A):c.1992A>G (p.Thr664=) rs368988956 0.00003
NM_001040142.2(SCN2A):c.2017-9T>C rs1451143110 0.00003
NM_001040142.2(SCN2A):c.2023A>G (p.Thr675Ala) rs371601218 0.00003
NM_001040142.2(SCN2A):c.2304C>T (p.Cys768=) rs764479273 0.00003
NM_001040142.2(SCN2A):c.2389-17C>T rs1461082035 0.00003
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=) rs760647603 0.00003
NM_001040142.2(SCN2A):c.3399+14A>C rs376371059 0.00003
NM_001040142.2(SCN2A):c.3676-9G>T rs767017457 0.00003
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_001040142.2(SCN2A):c.5127A>G (p.Gln1709=) rs938025387 0.00003
NM_001040142.2(SCN2A):c.5166T>C (p.Pro1722=) rs760587370 0.00003
NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=) rs1449263336 0.00003
NM_001040142.2(SCN2A):c.672A>T (p.Ala224=) rs2228986 0.00003
NM_001127644.2(GABRA1):c.384C>T (p.Phe128=) rs1219475284 0.00003
NM_001127644.2(GABRA1):c.390T>C (p.Asn130=) rs778019249 0.00003
NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=) rs775895535 0.00003
NM_001127644.2(GABRA1):c.834T>C (p.Ser278=) rs749956729 0.00003
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe) rs747927213 0.00003
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761 0.00003
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001134407.3(GRIN2A):c.1122+10C>T rs372687112 0.00003
NM_001134407.3(GRIN2A):c.1122+15G>A rs770481323 0.00003
NM_001134407.3(GRIN2A):c.1271C>A (p.Pro424His) rs375260513 0.00003
NM_001134407.3(GRIN2A):c.1476G>A (p.Val492=) rs1347544821 0.00003
NM_001134407.3(GRIN2A):c.2024A>C (p.Asp675Ala) rs75130648 0.00003
NM_001134407.3(GRIN2A):c.2457C>T (p.Gly819=) rs750219908 0.00003
NM_001134407.3(GRIN2A):c.264C>T (p.Asp88=) rs367543127 0.00003
NM_001134407.3(GRIN2A):c.3051C>T (p.Ser1017=) rs773366584 0.00003
NM_001134407.3(GRIN2A):c.3426C>T (p.Pro1142=) rs150487431 0.00003
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674 0.00003
NM_001134407.3(GRIN2A):c.3624G>A (p.Arg1208=) rs587780350 0.00003
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132 0.00003
NM_001134407.3(GRIN2A):c.4191T>C (p.Asn1397=) rs1295475837 0.00003
NM_001134407.3(GRIN2A):c.4205G>A (p.Arg1402Gln) rs74935155 0.00003
NM_001134407.3(GRIN2A):c.837C>G (p.Val279=) rs55885632 0.00003
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=) rs769899113 0.00003
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) rs553497128 0.00003
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=) rs373862230 0.00003
NM_001199107.2(TBC1D24):c.1526-13G>A rs766052989 0.00003
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) rs373872223 0.00003
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) rs201220026 0.00003
NM_001199107.2(TBC1D24):c.279C>T (p.Pro93=) rs1021608042 0.00003
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513 0.00003
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=) rs763534843 0.00003
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=) rs371064617 0.00003
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) rs527719763 0.00003
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001199107.2(TBC1D24):c.965+10C>T rs756687194 0.00003
NM_001199107.2(TBC1D24):c.984-5C>G rs535021783 0.00003
NM_001271.4(CHD2):c.1155T>A (p.Ala385=) rs374640261 0.00003
NM_001271.4(CHD2):c.1199-11A>G rs1236615732 0.00003
NM_001271.4(CHD2):c.1596G>A (p.Leu532=) rs996584370 0.00003
NM_001271.4(CHD2):c.1680C>T (p.Asn560=) rs368985360 0.00003
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217 0.00003
NM_001271.4(CHD2):c.192G>A (p.Ser64=) rs143614581 0.00003
NM_001271.4(CHD2):c.1938G>A (p.Gly646=) rs985145180 0.00003
NM_001271.4(CHD2):c.2769G>A (p.Glu923=) rs755268343 0.00003
NM_001271.4(CHD2):c.2850C>A (p.Ile950=) rs780916645 0.00003
NM_001271.4(CHD2):c.3067-19A>G rs749337105 0.00003
NM_001271.4(CHD2):c.3322T>A (p.Ser1108Thr) rs750356605 0.00003
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=) rs781574098 0.00003
NM_001271.4(CHD2):c.3413+7G>T rs892847874 0.00003
NM_001271.4(CHD2):c.3596-15A>T rs376417647 0.00003
NM_001271.4(CHD2):c.4029G>A (p.Lys1343=) rs200781322 0.00003
NM_001271.4(CHD2):c.4036G>T (p.Val1346Leu) rs200178864 0.00003
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647 0.00003
NM_001271.4(CHD2):c.4242C>T (p.Asp1414=) rs771971989 0.00003
NM_001271.4(CHD2):c.4434C>G (p.Pro1478=) rs199572989 0.00003
NM_001271.4(CHD2):c.4584C>G (p.Leu1528=) rs543526502 0.00003
NM_001271.4(CHD2):c.585G>A (p.Pro195=) rs371325259 0.00003
NM_001271.4(CHD2):c.596G>A (p.Arg199His) rs367550855 0.00003
NM_001271.4(CHD2):c.62+19C>A rs748026656 0.00003
NM_001271.4(CHD2):c.827-12A>C rs759241973 0.00003
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=) rs144204039 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.2546C>T (p.Ser849Leu) rs1064795982 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_004408.4(DNM1):c.1176C>T (p.Ile392=) rs760314213 0.00003
NM_004408.4(DNM1):c.1197-16C>T rs769415906 0.00003
NM_004408.4(DNM1):c.1335+16G>A rs768442528 0.00003
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val) rs992608425 0.00003
NM_004408.4(DNM1):c.1558-16C>T rs768903530 0.00003
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg) rs760956595 0.00003
NM_004408.4(DNM1):c.1672-15T>C rs1184633809 0.00003
NM_004408.4(DNM1):c.1722C>T (p.Asp574=) rs1404706727 0.00003
NM_004408.4(DNM1):c.1893+9C>A rs769121301 0.00003
NM_004408.4(DNM1):c.1906-20C>T rs1284100485 0.00003
NM_004408.4(DNM1):c.1917C>T (p.Thr639=) rs528464319 0.00003
NM_004408.4(DNM1):c.2322G>T (p.Ser774=) rs566718787 0.00003
NM_004408.4(DNM1):c.2427G>T (p.Leu809=) rs897409469 0.00003
NM_004408.4(DNM1):c.387G>A (p.Val129=) rs758325864 0.00003
NM_004408.4(DNM1):c.678C>G (p.Pro226=) rs150094408 0.00003
NM_004519.4(KCNQ3):c.*1676T>C rs574831064 0.00003
NM_004519.4(KCNQ3):c.1119G>A (p.Lys373=) rs148581537 0.00003
NM_004519.4(KCNQ3):c.1568+15G>A rs766512941 0.00003
NM_004519.4(KCNQ3):c.1569-8C>T rs780775965 0.00003
NM_004519.4(KCNQ3):c.1617G>A (p.Arg539=) rs140607300 0.00003
NM_004519.4(KCNQ3):c.1626T>C (p.Asp542=) rs145098530 0.00003
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) rs145204452 0.00003
NM_004519.4(KCNQ3):c.2133G>A (p.Gly711=) rs199701721 0.00003
NM_004519.4(KCNQ3):c.2388C>T (p.Asn796=) rs957388952 0.00003
NM_004519.4(KCNQ3):c.2514G>A (p.Thr838=) rs568466967 0.00003
NM_004519.4(KCNQ3):c.2538G>A (p.Thr846=) rs541215515 0.00003
NM_004519.4(KCNQ3):c.604+8C>T rs374801250 0.00003
NM_004519.4(KCNQ3):c.855C>T (p.Asp285=) rs62519577 0.00003
NM_004519.4(KCNQ3):c.99G>A (p.Ala33=) rs1057520485 0.00003
NM_005076.5(CNTN2):c.1002G>A (p.Ser334=) rs766457094 0.00003
NM_005076.5(CNTN2):c.1110+10A>G rs775868225 0.00003
NM_005076.5(CNTN2):c.1110+19C>G rs752064350 0.00003
NM_005076.5(CNTN2):c.1221C>T (p.Ser407=) rs774139246 0.00003
NM_005076.5(CNTN2):c.1240+18G>T rs200630793 0.00003
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=) rs200403480 0.00003
NM_005076.5(CNTN2):c.1860C>T (p.Gly620=) rs149350213 0.00003
NM_005076.5(CNTN2):c.1914C>T (p.Ile638=) rs1193381104 0.00003
NM_005076.5(CNTN2):c.2037G>A (p.Met679Ile) rs376343938 0.00003
NM_005076.5(CNTN2):c.2126-16C>T rs202038605 0.00003
NM_005076.5(CNTN2):c.215+12G>A rs769149441 0.00003
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=) rs975647789 0.00003
NM_005076.5(CNTN2):c.2880G>A (p.Thr960=) rs1201954383 0.00003
NM_005076.5(CNTN2):c.2934C>A (p.Gly978=) rs138851018 0.00003
NM_005076.5(CNTN2):c.513C>T (p.Asn171=) rs371187600 0.00003
NM_005076.5(CNTN2):c.697+20G>A rs906628634 0.00003
NM_007254.4(PNKP):c.1020C>T (p.Ala340=) rs745968911 0.00003
NM_007254.4(PNKP):c.1029+20G>T rs1239545577 0.00003
NM_007254.4(PNKP):c.1030-9C>T rs368699840 0.00003
NM_007254.4(PNKP):c.1191C>T (p.Asp397=) rs376011384 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1386+19G>T rs1057523595 0.00003
NM_007254.4(PNKP):c.1482C>T (p.Gly494=) rs60279874 0.00003
NM_007254.4(PNKP):c.1513C>T (p.Leu505=) rs201661864 0.00003
NM_007254.4(PNKP):c.327C>G (p.Thr109=) rs749579842 0.00003
NM_007254.4(PNKP):c.366C>T (p.Thr122=) rs145274731 0.00003
NM_007254.4(PNKP):c.403C>T (p.Leu135=) rs766739774 0.00003
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843 0.00003
NM_007254.4(PNKP):c.817-12C>T rs369567366 0.00003
NM_007254.4(PNKP):c.834C>T (p.Pro278=) rs372595462 0.00003
NM_012281.3(KCND2):c.1668C>T (p.Leu556=) rs1212749208 0.00003
NM_012281.3(KCND2):c.42A>G (p.Ala14=) rs758651064 0.00003
NM_012281.3(KCND2):c.705C>A (p.Ala235=) rs753241920 0.00003
NM_015192.4(PLCB1):c.1167+10A>G rs745755417 0.00003
NM_015192.4(PLCB1):c.1296T>C (p.Phe432=) rs781444977 0.00003
NM_015192.4(PLCB1):c.1336-5A>G rs752723995 0.00003
NM_015192.4(PLCB1):c.1763+9G>T rs765638834 0.00003
NM_015192.4(PLCB1):c.2328A>G (p.Leu776=) rs145778961 0.00003
NM_015192.4(PLCB1):c.2742G>A (p.Lys914=) rs776762609 0.00003
NM_015192.4(PLCB1):c.345C>T (p.Ser115=) rs756143193 0.00003
NM_015192.4(PLCB1):c.54G>A (p.Val18=) rs762431785 0.00003
NM_015192.4(PLCB1):c.660C>T (p.Cys220=) rs184317533 0.00003
NM_015192.4(PLCB1):c.78C>A (p.Thr26=) rs553711213 0.00003
NM_015192.4(PLCB1):c.99+14C>T rs370355249 0.00003
NM_015192.4(PLCB1):c.99+15G>A rs372562880 0.00003
NM_016373.4(WWOX):c.1029C>G (p.Thr343=) rs752273047 0.00003
NM_016373.4(WWOX):c.606-9A>G rs370129950 0.00003
NM_016373.4(WWOX):c.636A>C (p.Ala212=) rs1201180702 0.00003
NM_016373.4(WWOX):c.912C>T (p.Ser304=) rs745464578 0.00003
NM_018100.4(EFHC1):c.105C>T (p.Asn35=) rs534406651 0.00003
NM_018100.4(EFHC1):c.1279-9C>T rs143254681 0.00003
NM_018100.4(EFHC1):c.1536T>G (p.Val512=) rs775581363 0.00003
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497 0.00003
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=) rs764371721 0.00003
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=) rs770284927 0.00003
NM_021098.3(CACNA1H):c.1938C>T (p.His646=) rs771171443 0.00003
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=) rs764559629 0.00003
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) rs376616017 0.00003
NM_021098.3(CACNA1H):c.2789+10A>G rs535085854 0.00003
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=) rs775833368 0.00003
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=) rs376470846 0.00003
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) rs368155283 0.00003
NM_021098.3(CACNA1H):c.3364-13C>T rs780323364 0.00003
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=) rs951676471 0.00003
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=) rs4609848 0.00003
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=) rs753643337 0.00003
NM_021098.3(CACNA1H):c.643+13C>A rs372696554 0.00003
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=) rs535504262 0.00003
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=) rs770821118 0.00003
NM_032776.3(JMJD1C):c.2836T>C (p.Leu946=) rs774670652 0.00003
NM_032776.3(JMJD1C):c.288C>T (p.Ser96=) rs186389187 0.00003
NM_032776.3(JMJD1C):c.45G>C (p.Leu15=) rs756992665 0.00003
NM_032776.3(JMJD1C):c.4665C>T (p.Leu1555=) rs773232519 0.00003
NM_032776.3(JMJD1C):c.5136G>A (p.Gly1712=) rs775248033 0.00003
NM_032776.3(JMJD1C):c.6807C>T (p.Asp2269=) rs750471016 0.00003
NM_032776.3(JMJD1C):c.6831-4T>C rs555948242 0.00003
NM_032776.3(JMJD1C):c.684A>G (p.Leu228=) rs905639606 0.00003
NM_032776.3(JMJD1C):c.6858A>C (p.Pro2286=) rs760036423 0.00003
NM_032776.3(JMJD1C):c.933A>C (p.Pro311=) rs61745579 0.00003
NM_139058.3(ARX):c.1326G>A (p.Pro442=) rs774538294 0.00003
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) rs144098296 0.00003
NM_139058.3(ARX):c.1674C>A (p.Gly558=) rs888094094 0.00003
NM_139058.3(ARX):c.196+14C>G rs377487471 0.00003
NM_139058.3(ARX):c.327G>A (p.Ala109=) rs1340239089 0.00003
NM_139058.3(ARX):c.776T>C (p.Leu259Pro) rs774291500 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.900G>C (p.Leu300=) rs370579298 0.00003
NM_173354.5(SIK1):c.1043A>G (p.Tyr348Cys) rs754872537 0.00003
NM_173354.5(SIK1):c.1059C>T (p.Cys353=) rs763345874 0.00003
NM_173354.5(SIK1):c.1064G>A (p.Arg355His) rs759838082 0.00003
NM_173354.5(SIK1):c.1120-8G>A rs375763167 0.00003
NM_173354.5(SIK1):c.1246-4G>A rs368813444 0.00003
NM_173354.5(SIK1):c.1299C>T (p.Pro433=) rs749291191 0.00003
NM_173354.5(SIK1):c.1309A>G (p.Ser437Gly) rs151326084 0.00003
NM_173354.5(SIK1):c.1380G>A (p.Thr460=) rs373572087 0.00003
NM_173354.5(SIK1):c.1416C>T (p.His472=) rs1555891087 0.00003
NM_173354.5(SIK1):c.1422G>A (p.Leu474=) rs1391745784 0.00003
NM_173354.5(SIK1):c.1462+13G>A rs370082383 0.00003
NM_173354.5(SIK1):c.1593C>T (p.Gly531=) rs767538729 0.00003
NM_173354.5(SIK1):c.1725G>A (p.Ser575=) rs547895705 0.00003
NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile) rs751643088 0.00003
NM_173354.5(SIK1):c.1744+9C>T rs764319720 0.00003
NM_173354.5(SIK1):c.1917C>T (p.Gly639=) rs751294210 0.00003
NM_173354.5(SIK1):c.2088G>A (p.Pro696=) rs376915289 0.00003
NM_173354.5(SIK1):c.2091C>T (p.Leu697=) rs779483942 0.00003
NM_173354.5(SIK1):c.2154G>A (p.Ala718=) rs529008487 0.00003
NM_173354.5(SIK1):c.2217C>T (p.Thr739=) rs112091900 0.00003
NM_173354.5(SIK1):c.303C>T (p.Ile101=) rs149932987 0.00003
NM_173354.5(SIK1):c.378G>A (p.Ala126=) rs770396993 0.00003
NM_173354.5(SIK1):c.408C>T (p.Ala136=) rs150770510 0.00003
NM_173354.5(SIK1):c.435C>T (p.Ile145=) rs200536006 0.00003
NM_173354.5(SIK1):c.624+18G>A rs369279240 0.00003
NM_173354.5(SIK1):c.705G>A (p.Arg235=) rs752187558 0.00003
NM_173354.5(SIK1):c.748+8G>A rs201327272 0.00003
NM_173354.5(SIK1):c.750C>G (p.Asp250Glu) rs757740944 0.00003
NM_173354.5(SIK1):c.879C>T (p.Ser293=) rs138160311 0.00003
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe) rs752621588 0.00003
NM_198904.4(GABRG2):c.975G>A (p.Ser325=) rs774809218 0.00003
NM_198904.4(GABRG2):c.981C>G (p.Pro327=) rs1359283950 0.00003
NC_000023.11:g.18646061G>A rs1487927674 0.00002
NC_000023.11:g.18653493C>A rs587783163 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.185-3188G>A rs267608665 0.00002
NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser) rs757233280 0.00002
NM_000814.6(GABRB3):c.1159G>A (p.Asp387Asn) rs373823173 0.00002
NM_000814.6(GABRB3):c.1266G>A (p.Pro422=) rs377621777 0.00002
NM_000814.6(GABRB3):c.172+10C>T rs764970437 0.00002
NM_000814.6(GABRB3):c.240+12C>T rs25408 0.00002
NM_000814.6(GABRB3):c.241-9T>C rs771268184 0.00002
NM_000814.6(GABRB3):c.513C>T (p.Asp171=) rs200507900 0.00002
NM_000814.6(GABRB3):c.648C>T (p.His216=) rs144001770 0.00002
NM_000814.6(GABRB3):c.753T>C (p.Tyr251=) rs150534186 0.00002
NM_000814.6(GABRB3):c.81-3C>T rs746996582 0.00002
NM_000814.6(GABRB3):c.840C>T (p.Ile280=) rs1053195381 0.00002
NM_000814.6(GABRB3):c.918T>A (p.Ile306=) rs756626803 0.00002
NM_000814.6(GABRB3):c.942C>T (p.Phe314=) rs757856929 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.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.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.3504C>T (p.Ser1168=) rs183502070 0.00002
NM_000834.5(GRIN2B):c.3702G>C (p.Ser1234=) rs753797364 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.4066G>A (p.Val1356Met) rs796052579 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 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.732C>G (p.Ala244=) rs201554036 0.00002
NM_001040142.2(SCN2A):c.1131A>G (p.Leu377=) rs928600496 0.00002
NM_001040142.2(SCN2A):c.1353A>G (p.Glu451=) rs559725593 0.00002
NM_001040142.2(SCN2A):c.1398C>T (p.Ala466=) rs373430899 0.00002
NM_001040142.2(SCN2A):c.1437G>C (p.Gly479=) rs940572077 0.00002
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573 0.00002
NM_001040142.2(SCN2A):c.2150-9T>C rs979249844 0.00002
NM_001040142.2(SCN2A):c.2386C>T (p.Leu796=) rs943031760 0.00002
NM_001040142.2(SCN2A):c.252C>T (p.Tyr84=) rs143065769 0.00002
NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=) rs1292645984 0.00002
NM_001040142.2(SCN2A):c.270G>A (p.Thr90=) rs776081713 0.00002
NM_001040142.2(SCN2A):c.3195C>A (p.Leu1065=) rs150369313 0.00002
NM_001040142.2(SCN2A):c.3261G>T (p.Val1087=) rs932319701 0.00002
NM_001040142.2(SCN2A):c.3521-15T>C rs886055000 0.00002
NM_001040142.2(SCN2A):c.3521-9A>G rs748099173 0.00002
NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=) rs552725434 0.00002
NM_001040142.2(SCN2A):c.3675+9T>C rs372657571 0.00002
NM_001040142.2(SCN2A):c.387-6T>C rs1386314410 0.00002
NM_001040142.2(SCN2A):c.4094A>G (p.His1365Arg) rs762800170 0.00002
NM_001040142.2(SCN2A):c.414G>A (p.Thr138=) rs553026899 0.00002
NM_001040142.2(SCN2A):c.4552-9T>C rs760228082 0.00002
NM_001040142.2(SCN2A):c.4671A>G (p.Gln1557=) rs757986594 0.00002
NM_001040142.2(SCN2A):c.5119C>T (p.Leu1707=) rs2227897 0.00002
NM_001040142.2(SCN2A):c.5709A>G (p.Lys1903=) rs780697553 0.00002
NM_001040142.2(SCN2A):c.5994A>G (p.Lys1998=) rs745810335 0.00002
NM_001040142.2(SCN2A):c.698-20C>T rs748075978 0.00002
NM_001040142.2(SCN2A):c.9G>A (p.Gln3=) rs1435672829 0.00002
NM_001127644.2(GABRA1):c.1151C>T (p.Pro384Leu) rs755336024 0.00002
NM_001127644.2(GABRA1):c.1261C>A (p.Arg421=) rs756295089 0.00002
NM_001127644.2(GABRA1):c.198C>T (p.Thr66=) rs770208588 0.00002
NM_001127644.2(GABRA1):c.237C>T (p.Pro79=) rs536603724 0.00002
NM_001127644.2(GABRA1):c.297T>C (p.Asp99=) rs750394365 0.00002
NM_001127644.2(GABRA1):c.33T>C (p.Leu11=) rs766418049 0.00002
NM_001127644.2(GABRA1):c.477-14A>G rs757378039 0.00002
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 0.00002
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001134407.3(GRIN2A):c.1161C>T (p.His387=) rs367543146 0.00002
NM_001134407.3(GRIN2A):c.1201C>G (p.Pro401Ala) rs762535029 0.00002
NM_001134407.3(GRIN2A):c.1224C>T (p.Ile408=) rs776264780 0.00002
NM_001134407.3(GRIN2A):c.1245A>T (p.Pro415=) rs375920773 0.00002
NM_001134407.3(GRIN2A):c.1328+16G>A rs1460561060 0.00002
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=) rs375291296 0.00002
NM_001134407.3(GRIN2A):c.1652-4G>A rs755304312 0.00002
NM_001134407.3(GRIN2A):c.1757G>A (p.Arg586Lys) rs768958947 0.00002
NM_001134407.3(GRIN2A):c.179C>T (p.Ala60Val) rs758117698 0.00002
NM_001134407.3(GRIN2A):c.1842T>C (p.Asn614=) rs138236719 0.00002
NM_001134407.3(GRIN2A):c.1911C>T (p.Phe637=) rs150432804 0.00002
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733 0.00002
NM_001134407.3(GRIN2A):c.2554G>A (p.Val852Met) rs150316865 0.00002
NM_001134407.3(GRIN2A):c.2595+11C>T rs768282034 0.00002
NM_001134407.3(GRIN2A):c.2650G>A (p.Asp884Asn) rs777684328 0.00002
NM_001134407.3(GRIN2A):c.2652C>T (p.Asp884=) rs755207993 0.00002
NM_001134407.3(GRIN2A):c.3028C>A (p.Pro1010Thr) rs753651908 0.00002
NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu) rs201698049 0.00002
NM_001134407.3(GRIN2A):c.3432C>T (p.Asn1144=) rs746900457 0.00002
NM_001134407.3(GRIN2A):c.3532C>A (p.Leu1178Ile) rs377152953 0.00002
NM_001134407.3(GRIN2A):c.39G>A (p.Pro13=) rs776479105 0.00002
NM_001134407.3(GRIN2A):c.414+13A>T rs752708809 0.00002
NM_001134407.3(GRIN2A):c.414+15_414+16del rs773960093 0.00002
NM_001134407.3(GRIN2A):c.414+7C>T rs748888605 0.00002
NM_001134407.3(GRIN2A):c.4152G>A (p.Ser1384=) rs747359798 0.00002
NM_001134407.3(GRIN2A):c.4188G>A (p.Val1396=) rs757189822 0.00002
NM_001134407.3(GRIN2A):c.4227A>G (p.Ala1409=) rs765372126 0.00002
NM_001134407.3(GRIN2A):c.423G>A (p.Thr141=) rs527558415 0.00002
NM_001134407.3(GRIN2A):c.4313T>C (p.Met1438Thr) rs200593691 0.00002
NM_001134407.3(GRIN2A):c.4355G>A (p.Arg1452His) rs774039446 0.00002
NM_001134407.3(GRIN2A):c.468G>A (p.Thr156=) rs773513210 0.00002
NM_001134407.3(GRIN2A):c.735C>T (p.Ser245=) rs760446221 0.00002
NM_001134407.3(GRIN2A):c.870G>A (p.Ala290=) rs1331462860 0.00002
NM_001134407.3(GRIN2A):c.91C>T (p.Pro31Ser) rs199942034 0.00002
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=) rs1178639246 0.00002
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=) rs760897479 0.00002
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=) rs200089341 0.00002
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=) rs375320196 0.00002
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634 0.00002
NM_001199107.2(TBC1D24):c.1525+16C>T rs754724498 0.00002
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=) rs373088306 0.00002
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970 0.00002
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=) rs375578380 0.00002
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=) rs762804146 0.00002
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165 0.00002
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=) rs749237671 0.00002
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=) rs778663250 0.00002
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=) rs769201984 0.00002
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=) rs770453630 0.00002
NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=) rs768933496 0.00002
NM_001199107.2(TBC1D24):c.965+11G>A rs568663296 0.00002
NM_001271.4(CHD2):c.1161G>A (p.Lys387=) rs756485685 0.00002
NM_001271.4(CHD2):c.1215G>A (p.Pro405=) rs144294063 0.00002
NM_001271.4(CHD2):c.1242A>G (p.Leu414=) rs749255095 0.00002
NM_001271.4(CHD2):c.2091T>A (p.Leu697=) rs770949083 0.00002
NM_001271.4(CHD2):c.225C>G (p.Ser75=) rs144667627 0.00002
NM_001271.4(CHD2):c.2395C>T (p.Leu799=) rs369618673 0.00002
NM_001271.4(CHD2):c.2565A>G (p.Ala855=) rs892314237 0.00002
NM_001271.4(CHD2):c.2577+20G>C rs771629875 0.00002
NM_001271.4(CHD2):c.2757G>A (p.Gly919=) rs754006955 0.00002
NM_001271.4(CHD2):c.2974-16G>C rs990532473 0.00002
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=) rs778897064 0.00002
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro) rs751507887 0.00002
NM_001271.4(CHD2):c.4098T>G (p.Pro1366=) rs1478793992 0.00002
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln) rs762950368 0.00002
NM_001271.4(CHD2):c.4592+20C>G rs377002260 0.00002
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=) rs150640503 0.00002
NM_001271.4(CHD2):c.4668T>C (p.His1556=) rs749555682 0.00002
NM_001271.4(CHD2):c.4693-19G>A rs764154165 0.00002
NM_001271.4(CHD2):c.4710C>T (p.Asp1570=) rs756273030 0.00002
NM_001271.4(CHD2):c.4764G>A (p.Arg1588=) rs762849098 0.00002
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe) rs893203290 0.00002
NM_001271.4(CHD2):c.4941C>T (p.Asn1647=) rs1161487399 0.00002
NM_001271.4(CHD2):c.5073C>T (p.Pro1691=) rs754504518 0.00002
NM_001271.4(CHD2):c.5154-13A>G rs747116554 0.00002
NM_001271.4(CHD2):c.5229A>G (p.Arg1743=) rs773814385 0.00002
NM_001271.4(CHD2):c.5370C>T (p.Pro1790=) rs756324303 0.00002
NM_001271.4(CHD2):c.5391C>T (p.His1797=) rs755395580 0.00002
NM_001271.4(CHD2):c.63-15C>G rs372471036 0.00002
NM_001271.4(CHD2):c.699A>G (p.Lys233=) rs201178956 0.00002
NM_001271.4(CHD2):c.827-17A>T rs765907918 0.00002
NM_001271.4(CHD2):c.843T>C (p.Thr281=) rs752429913 0.00002
NM_001271.4(CHD2):c.87G>A (p.Ser29=) rs560296130 0.00002
NM_001323289.2(CDKL5):c.1080C>T (p.Leu360=) rs911838999 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.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.1968G>A (p.Glu656=) rs1451908414 0.00002
NM_001323289.2(CDKL5):c.2152+15G>A rs1441325648 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.2487G>A (p.Leu829=) rs1467875005 0.00002
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466 0.00002
NM_003159.3(CDKL5):c.3012G>T (p.Arg1004Ser) rs267608667 0.00002
NM_004408.4(DNM1):c.1161G>A (p.Glu387=) rs998519750 0.00002
NM_004408.4(DNM1):c.1197-11C>T rs764285452 0.00002
NM_004408.4(DNM1):c.1197-15G>A rs534677463 0.00002
NM_004408.4(DNM1):c.1380G>C (p.Val460=) rs749564973 0.00002
NM_004408.4(DNM1):c.141G>T (p.Val47=) rs1269297218 0.00002
NM_004408.4(DNM1):c.1423-14A>G rs765225886 0.00002
NM_004408.4(DNM1):c.1558-17G>T rs749222845 0.00002
NM_004408.4(DNM1):c.161+11C>G rs1483670500 0.00002
NM_004408.4(DNM1):c.162-17C>T rs1057524327 0.00002
NM_004408.4(DNM1):c.1755C>T (p.Ile585=) rs759079310 0.00002
NM_004408.4(DNM1):c.1860C>T (p.Phe620=) rs1050799692 0.00002
NM_004408.4(DNM1):c.2133G>A (p.Gln711=) rs1277551348 0.00002
NM_004408.4(DNM1):c.2586C>T (p.Phe862=) rs560349998 0.00002
NM_004408.4(DNM1):c.689-8G>T rs760856978 0.00002
NM_004408.4(DNM1):c.702G>A (p.Val234=) rs754094661 0.00002
NM_004408.4(DNM1):c.850-17C>G rs764505046 0.00002
NM_004519.4(KCNQ3):c.*4027G>A rs529880251 0.00002
NM_004519.4(KCNQ3):c.1044+7A>G rs1437816175 0.00002
NM_004519.4(KCNQ3):c.1374T>C (p.Ser458=) rs1375630782 0.00002
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_004519.4(KCNQ3):c.1443C>T (p.Tyr481=) rs200812594 0.00002
NM_004519.4(KCNQ3):c.1507G>A (p.Gly503Arg) rs773584143 0.00002
NM_004519.4(KCNQ3):c.1568+8C>T rs370337209 0.00002
NM_004519.4(KCNQ3):c.1623C>T (p.Tyr541=) rs138900075 0.00002
NM_004519.4(KCNQ3):c.1707T>C (p.Asp569=) rs748374858 0.00002
NM_004519.4(KCNQ3):c.1737G>A (p.Thr579=) rs574981327 0.00002
NM_004519.4(KCNQ3):c.1800-10T>C rs774538909 0.00002
NM_004519.4(KCNQ3):c.1812T>C (p.Tyr604=) rs749500398 0.00002
NM_004519.4(KCNQ3):c.1884+19T>C rs768618664 0.00002
NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser) rs747379988 0.00002
NM_004519.4(KCNQ3):c.2128T>C (p.Tyr710His) rs181746838 0.00002
NM_004519.4(KCNQ3):c.2398C>T (p.Leu800=) rs1263025120 0.00002
NM_004519.4(KCNQ3):c.339C>T (p.Asp113=) rs998731555 0.00002
NM_004519.4(KCNQ3):c.386+15G>T rs778486411 0.00002
NM_005076.5(CNTN2):c.1050C>T (p.Ala350=) rs142610365 0.00002
NM_005076.5(CNTN2):c.1233C>T (p.Ala411=) rs748305651 0.00002
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=) rs748381947 0.00002
NM_005076.5(CNTN2):c.159G>A (p.Thr53=) rs907497961 0.00002
NM_005076.5(CNTN2):c.1608C>T (p.Pro536=) rs771101678 0.00002
NM_005076.5(CNTN2):c.1696-8G>A rs766657667 0.00002
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_005076.5(CNTN2):c.216-9C>T rs577845981 0.00002
NM_005076.5(CNTN2):c.2545-20G>T rs749089664 0.00002
NM_005076.5(CNTN2):c.2736G>A (p.Pro912=) rs746965528 0.00002
NM_005076.5(CNTN2):c.2845-5C>T rs1239961379 0.00002
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met) rs752800918 0.00002
NM_005076.5(CNTN2):c.391+11C>T rs750562954 0.00002
NM_005076.5(CNTN2):c.392-14G>T rs148381903 0.00002
NM_005076.5(CNTN2):c.552C>T (p.Phe184=) rs777614226 0.00002
NM_005076.5(CNTN2):c.70+16T>A rs1212916132 0.00002
NM_005076.5(CNTN2):c.71-6C>T rs749400715 0.00002
NM_007254.4(PNKP):c.1002C>T (p.Ala334=) rs748042567 0.00002
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007254.4(PNKP):c.1095G>A (p.Pro365=) rs139540159 0.00002
NM_007254.4(PNKP):c.1127-7C>T rs772557014 0.00002
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090 0.00002
NM_007254.4(PNKP):c.130C>A (p.Arg44=) rs374921362 0.00002
NM_007254.4(PNKP):c.1344C>T (p.Phe448=) rs762529581 0.00002
NM_007254.4(PNKP):c.1386+43G>A rs775229994 0.00002
NM_007254.4(PNKP):c.1471C>T (p.Leu491=) rs779306097 0.00002
NM_007254.4(PNKP):c.1554C>T (p.Phe518=) rs541143958 0.00002
NM_007254.4(PNKP):c.1565G>A (p.Ter522=) rs778165913 0.00002
NM_007254.4(PNKP):c.267G>A (p.Val89=) rs531640505 0.00002
NM_007254.4(PNKP):c.357G>A (p.Pro119=) rs766826936 0.00002
NM_007254.4(PNKP):c.498+15G>A rs765136807 0.00002
NM_007254.4(PNKP):c.588C>T (p.Tyr196=) rs745459391 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 0.00002
NM_007254.4(PNKP):c.687C>T (p.Ala229=) rs776236270 0.00002
NM_007254.4(PNKP):c.937-10C>T rs376801468 0.00002
NM_007254.4(PNKP):c.948C>T (p.Asn316=) rs1173052486 0.00002
NM_012281.3(KCND2):c.1053T>A (p.Ala351=) rs563342892 0.00002
NM_012281.3(KCND2):c.1320C>T (p.Ser440=) rs200177734 0.00002
NM_012281.3(KCND2):c.1671C>T (p.Ser557=) rs369805149 0.00002
NM_012281.3(KCND2):c.1758A>G (p.Leu586=) rs533375794 0.00002
NM_012281.3(KCND2):c.318T>C (p.Tyr106=) rs769794049 0.00002
NM_012281.3(KCND2):c.469G>A (p.Ala157Thr) rs144765242 0.00002
NM_012281.3(KCND2):c.573G>C (p.Thr191=) rs780770259 0.00002
NM_012281.3(KCND2):c.750A>G (p.Ala250=) rs778783764 0.00002
NM_012281.3(KCND2):c.795C>T (p.Ile265=) rs776818004 0.00002
NM_015192.4(PLCB1):c.1009+7A>T rs777208922 0.00002
NM_015192.4(PLCB1):c.1168-17T>A rs756936385 0.00002
NM_015192.4(PLCB1):c.1336-19T>A rs765872972 0.00002
NM_015192.4(PLCB1):c.1431C>T (p.Ser477=) rs758504402 0.00002
NM_015192.4(PLCB1):c.1542C>T (p.Asp514=) rs781714752 0.00002
NM_015192.4(PLCB1):c.1582-8A>G rs775526031 0.00002
NM_015192.4(PLCB1):c.231C>T (p.His77=) rs773937907 0.00002
NM_015192.4(PLCB1):c.2355G>A (p.Thr785=) rs763065886 0.00002
NM_015192.4(PLCB1):c.2382A>G (p.Glu794=) rs762411079 0.00002
NM_015192.4(PLCB1):c.2413+7A>G rs369440734 0.00002
NM_015192.4(PLCB1):c.2916G>A (p.Lys972=) rs751967802 0.00002
NM_015192.4(PLCB1):c.2934G>A (p.Ser978=) rs748740359 0.00002
NM_015192.4(PLCB1):c.2946C>T (p.Ser982=) rs369387650 0.00002
NM_015192.4(PLCB1):c.309C>A (p.Ile103=) rs770498816 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.518+16A>G rs373931059 0.00002
NM_015192.4(PLCB1):c.816A>G (p.Gln272=) rs773100834 0.00002
NM_015192.4(PLCB1):c.99+20G>A rs540693889 0.00002
NM_015192.4(PLCB1):c.990G>A (p.Ser330=) rs375950955 0.00002
NM_016373.4(WWOX):c.1057-4C>T rs555716977 0.00002
NM_016373.4(WWOX):c.172+19A>G rs1198975338 0.00002
NM_016373.4(WWOX):c.183C>T (p.Tyr61=) rs759766243 0.00002
NM_016373.4(WWOX):c.210C>T (p.Asn70=) rs762102064 0.00002
NM_016373.4(WWOX):c.414C>T (p.Phe138=) rs767693780 0.00002
NM_016373.4(WWOX):c.453G>A (p.Val151=) rs375649496 0.00002
NM_016373.4(WWOX):c.555T>C (p.Ala185=) rs748722105 0.00002
NM_016373.4(WWOX):c.651C>G (p.Pro217=) rs746893085 0.00002
NM_016373.4(WWOX):c.791+14G>A rs753689854 0.00002
NM_016373.4(WWOX):c.792-6T>G rs771690273 0.00002
NM_016373.4(WWOX):c.792-9A>G rs376320385 0.00002
NM_016373.4(WWOX):c.836G>A (p.Arg279His) rs748534396 0.00002
NM_016373.4(WWOX):c.933C>G (p.Leu311=) rs757508300 0.00002
NM_016373.4(WWOX):c.942C>T (p.Arg314=) rs568012503 0.00002
NM_018100.4(EFHC1):c.1494G>A (p.Val498=) rs1252426853 0.00002
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237 0.00002
NM_018100.4(EFHC1):c.1629A>G (p.Pro543=) rs1422352360 0.00002
NM_018100.4(EFHC1):c.546C>T (p.Arg182=) rs377349630 0.00002
NM_018100.4(EFHC1):c.618G>A (p.Lys206=) rs1374718335 0.00002
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=) rs1338263000 0.00002
NM_021098.3(CACNA1H):c.1719C>T (p.His573=) rs964041008 0.00002
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=) rs201227047 0.00002
NM_021098.3(CACNA1H):c.4224-11C>T rs371952675 0.00002
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=) rs764500957 0.00002
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu) rs776422410 0.00002
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=) rs780808265 0.00002
NM_021098.3(CACNA1H):c.644-7C>T rs545310896 0.00002
NM_032776.3(JMJD1C):c.1112A>G (p.Asn371Ser) rs528244230 0.00002
NM_032776.3(JMJD1C):c.1152A>T (p.Ser384=) rs777440094 0.00002
NM_032776.3(JMJD1C):c.1293G>A (p.Gln431=) rs375059867 0.00002
NM_032776.3(JMJD1C):c.2085A>G (p.Thr695=) rs764269914 0.00002
NM_032776.3(JMJD1C):c.2133T>C (p.Phe711=) rs772812493 0.00002
NM_032776.3(JMJD1C):c.2686T>C (p.Leu896=) rs368708436 0.00002
NM_032776.3(JMJD1C):c.2695-9T>C rs537938353 0.00002
NM_032776.3(JMJD1C):c.270C>T (p.Ala90=) rs1452187493 0.00002
NM_032776.3(JMJD1C):c.2867+13G>T rs569189225 0.00002
NM_032776.3(JMJD1C):c.3300T>C (p.Ser1100=) rs1273669583 0.00002
NM_032776.3(JMJD1C):c.3427C>T (p.Leu1143Phe) rs376656512 0.00002
NM_032776.3(JMJD1C):c.3483C>T (p.Gly1161=) rs551938385 0.00002
NM_032776.3(JMJD1C):c.3765C>T (p.Pro1255=) rs1245334320 0.00002
NM_032776.3(JMJD1C):c.3885C>T (p.Ser1295=) rs758192946 0.00002
NM_032776.3(JMJD1C):c.4653A>G (p.Lys1551=) rs759459088 0.00002
NM_032776.3(JMJD1C):c.5766T>G (p.Thr1922=) rs747909955 0.00002
NM_032776.3(JMJD1C):c.6351T>C (p.Val2117=) rs1844490748 0.00002
NM_032776.3(JMJD1C):c.7134A>G (p.Lys2378=) rs370256419 0.00002
NM_032776.3(JMJD1C):c.7401+16T>C rs997381793 0.00002
NM_032776.3(JMJD1C):c.7477T>C (p.Leu2493=) rs372033085 0.00002
NM_139058.3(ARX):c.1260T>G (p.Pro420=) rs1057521263 0.00002
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.1281C>T (p.Asp427=) rs587783185 0.00002
NM_139058.3(ARX):c.1448+10A>G rs774033566 0.00002
NM_139058.3(ARX):c.1668C>T (p.Ser556=) rs1281833018 0.00002
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196 0.00002
NM_139058.3(ARX):c.440C>T (p.Ala147Val) rs1048593315 0.00002
NM_139058.3(ARX):c.450C>A (p.Ala150=) rs1410039382 0.00002
NM_139058.3(ARX):c.591C>T (p.Gly197=) rs1200326478 0.00002
NM_139058.3(ARX):c.651G>A (p.Ala217=) rs587783204 0.00002
NM_139058.3(ARX):c.699C>T (p.Asp233=) rs1277580936 0.00002
NM_139058.3(ARX):c.739G>C (p.Asp247His) rs765259012 0.00002
NM_139058.3(ARX):c.832G>A (p.Ala278Thr) rs751858511 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.1650C>T (p.Asn550=) rs749043096 0.00002
NM_152309.3(PIK3AP1):c.915G>A (p.Leu305=) rs760573991 0.00002
NM_173354.5(SIK1):c.1068C>T (p.Pro356=) rs776984333 0.00002
NM_173354.5(SIK1):c.1246-7A>G rs199838835 0.00002
NM_173354.5(SIK1):c.1539G>A (p.Ala513=) rs370071213 0.00002
NM_173354.5(SIK1):c.1698C>A (p.Val566=) rs777284773 0.00002
NM_173354.5(SIK1):c.1734A>C (p.Ser578=) rs757586795 0.00002
NM_173354.5(SIK1):c.1744+13C>T rs371523952 0.00002
NM_173354.5(SIK1):c.1746G>T (p.Gly582=) rs527940225 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_173354.5(SIK1):c.2193C>T (p.His731=) rs745398672 0.00002
NM_173354.5(SIK1):c.300C>T (p.Tyr100=) rs147156765 0.00002
NM_173354.5(SIK1):c.338-15T>C rs761757716 0.00002
NM_173354.5(SIK1):c.379C>T (p.Arg127Trp) rs748660297 0.00002
NM_173354.5(SIK1):c.499+14G>A rs780514021 0.00002
NM_173354.5(SIK1):c.690G>A (p.Pro230=) rs769785714 0.00002
NM_173354.5(SIK1):c.748+18G>A rs540350444 0.00002
NM_173354.5(SIK1):c.748+9T>A rs532539559 0.00002
NM_173354.5(SIK1):c.789C>T (p.Pro263=) rs755259558 0.00002
NM_173354.5(SIK1):c.798C>T (p.Arg266=) rs773060642 0.00002
NM_173354.5(SIK1):c.870C>T (p.Pro290=) rs768137586 0.00002
NM_173354.5(SIK1):c.984C>T (p.Asn328=) rs771156923 0.00002
NM_198904.4(GABRG2):c.1053G>A (p.Val351=) rs149472714 0.00002
NM_198904.4(GABRG2):c.1088G>A (p.Arg363Gln) rs780199000 0.00002
NM_198904.4(GABRG2):c.1350C>T (p.Asp450=) rs202246006 0.00002
NM_198904.4(GABRG2):c.631+19C>A rs1157159527 0.00002
NM_198904.4(GABRG2):c.753A>C (p.Val251=) rs764267675 0.00002
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NC_000023.11:g.18646001A>G rs371658418 0.00001
NC_000023.11:g.18646031A>G rs773644857 0.00001
NC_000023.11:g.18650453G>A rs368344738 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.326+1159C>G rs587783160 0.00001
NM_000811.3(GABRA6):c.1053A>C (p.Lys351Asn) rs750458393 0.00001
NM_000814.6(GABRB3):c.1059T>C (p.Arg353=) rs373254789 0.00001
NM_000814.6(GABRB3):c.1069G>A (p.Glu357Lys) rs572427454 0.00001
NM_000814.6(GABRB3):c.1079G>A (p.Arg360Gln) rs778442239 0.00001
NM_000814.6(GABRB3):c.1104G>C (p.Leu368=) rs777145235 0.00001
NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln) rs373229638 0.00001
NM_000814.6(GABRB3):c.1329C>T (p.Thr443=) rs754147659 0.00001
NM_000814.6(GABRB3):c.1362C>T (p.Ile454=) rs745449592 0.00001
NM_000814.6(GABRB3):c.172+16G>A rs1891184947 0.00001
NM_000814.6(GABRB3):c.172+17C>T rs1891184871 0.00001
NM_000814.6(GABRB3):c.172+8G>C rs1451838565 0.00001
NM_000814.6(GABRB3):c.173-17T>A rs1178284927 0.00001
NM_000814.6(GABRB3):c.173-5C>G rs547678442 0.00001
NM_000814.6(GABRB3):c.183C>G (p.Val61=) rs778097525 0.00001
NM_000814.6(GABRB3):c.241-8C>T rs532293456 0.00001
NM_000814.6(GABRB3):c.291C>T (p.Leu97=) rs779511362 0.00001
NM_000814.6(GABRB3):c.33C>T (p.Gly11=) rs1219990897 0.00001
NM_000814.6(GABRB3):c.393G>T (p.Val131=) rs1892476911 0.00001
NM_000814.6(GABRB3):c.558G>A (p.Thr186=) rs745982738 0.00001
NM_000814.6(GABRB3):c.639C>T (p.Ile213=) rs767178198 0.00001
NM_000814.6(GABRB3):c.660G>A (p.Ser220=) rs745841016 0.00001
NM_000814.6(GABRB3):c.683-16T>C rs1269995867 0.00001
NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp) rs144496462 0.00001
NM_000814.6(GABRB3):c.774G>A (p.Thr258=) rs779417468 0.00001
NM_000814.6(GABRB3):c.81-11C>T rs759375301 0.00001
NM_000814.6(GABRB3):c.975C>T (p.Ala325=) rs1160874734 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.1302C>T (p.Val434=) rs758148425 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.1501-19C>T rs377609698 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.1655-5C>T rs148132876 0.00001
NM_000834.5(GRIN2B):c.1671C>T (p.Asp557=) rs187488896 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.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.2561G>T (p.Cys854Phe) rs758762096 0.00001
NM_000834.5(GRIN2B):c.2598+11T>C rs774497797 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.2715C>T (p.Ala905=) rs568858172 0.00001
NM_000834.5(GRIN2B):c.2730C>T (p.Asn910=) rs777288719 0.00001
NM_000834.5(GRIN2B):c.2754G>A (p.Pro918=) rs756487785 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.2898A>G (p.Val966=) rs1265201296 0.00001
NM_000834.5(GRIN2B):c.2913G>A (p.Gly971=) rs200696950 0.00001
NM_000834.5(GRIN2B):c.2937C>T (p.Asn979=) rs747235156 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.3033C>T (p.Phe1011=) rs200355836 0.00001
NM_000834.5(GRIN2B):c.3081C>A (p.Leu1027=) rs200887288 0.00001
NM_000834.5(GRIN2B):c.3126C>T (p.Phe1042=) rs767114392 0.00001
NM_000834.5(GRIN2B):c.3180C>T (p.Val1060=) rs142071596 0.00001
NM_000834.5(GRIN2B):c.3234C>G (p.Ala1078=) rs1208973440 0.00001
NM_000834.5(GRIN2B):c.33G>A (p.Lys11=) rs199904091 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.3573C>T (p.Ser1191=) rs1360698391 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.3681G>A (p.Thr1227=) rs758736358 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.381C>T (p.His127=) rs200608452 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.3906C>T (p.His1302=) rs764172372 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.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.411+9G>A rs199984775 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.4149G>A (p.Thr1383=) rs201750358 0.00001
NM_000834.5(GRIN2B):c.4215C>T (p.Phe1405=) rs778677489 0.00001
NM_000834.5(GRIN2B):c.4242G>A (p.Ala1414=) rs202227485 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.4341T>C (p.Cys1447=) rs766970197 0.00001
NM_000834.5(GRIN2B):c.4413G>A (p.Gly1471=) rs202051424 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.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.625C>T (p.Leu209=) rs1591712558 0.00001
NM_000834.5(GRIN2B):c.631G>A (p.Asp211Asn) rs1295510907 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.840A>G (p.Val280=) rs752814750 0.00001
NM_000834.5(GRIN2B):c.93C>T (p.Ser31=) rs781344452 0.00001
NM_000834.5(GRIN2B):c.9C>T (p.Pro3=) rs202219447 0.00001
NM_001040142.2(SCN2A):c.1032A>G (p.Ala344=) rs778228350 0.00001
NM_001040142.2(SCN2A):c.1034+10G>A rs749778303 0.00001
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987 0.00001
NM_001040142.2(SCN2A):c.1038G>A (p.Gln346=) rs1057522529 0.00001
NM_001040142.2(SCN2A):c.1137T>C (p.Arg379=) rs587781154 0.00001
NM_001040142.2(SCN2A):c.1177-8T>C rs1060504831 0.00001
NM_001040142.2(SCN2A):c.1194G>A (p.Gly398=) rs1436893477 0.00001
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His) rs754993031 0.00001
NM_001040142.2(SCN2A):c.1246C>T (p.Leu416=) rs902180317 0.00001
NM_001040142.2(SCN2A):c.1383+17T>C rs1226775368 0.00001
NM_001040142.2(SCN2A):c.1383+19C>T rs199744298 0.00001
NM_001040142.2(SCN2A):c.1383+20G>A rs567354567 0.00001
NM_001040142.2(SCN2A):c.1384-8C>T rs755754936 0.00001
NM_001040142.2(SCN2A):c.1473T>G (p.Ser491=) rs1427996432 0.00001
NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=) rs780072216 0.00001
NM_001040142.2(SCN2A):c.1578G>A (p.Ser526=) rs141269163 0.00001
NM_001040142.2(SCN2A):c.1613G>A (p.Arg538His) rs761203730 0.00001
NM_001040142.2(SCN2A):c.1623G>A (p.Leu541=) rs753341735 0.00001
NM_001040142.2(SCN2A):c.1846A>G (p.Arg616Gly) rs772896106 0.00001
NM_001040142.2(SCN2A):c.1866C>T (p.His622=) rs377388875 0.00001
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro) rs558887330 0.00001
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614 0.00001
NM_001040142.2(SCN2A):c.1938C>T (p.Ser646=) rs528391611 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.1986C>T (p.Thr662=) rs530608927 0.00001
NM_001040142.2(SCN2A):c.2001G>C (p.Gly667=) rs1323805020 0.00001
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771 0.00001
NM_001040142.2(SCN2A):c.2043A>G (p.Arg681=) rs1384019842 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln) rs146949852 0.00001
NM_001040142.2(SCN2A):c.2074A>G (p.Met692Val) rs771488290 0.00001
NM_001040142.2(SCN2A):c.2149+16T>C rs767512295 0.00001
NM_001040142.2(SCN2A):c.2149+18C>T rs770481092 0.00001
NM_001040142.2(SCN2A):c.2367T>C (p.Ser789=) rs1181917414 0.00001
NM_001040142.2(SCN2A):c.2389-6A>G rs1370290520 0.00001
NM_001040142.2(SCN2A):c.240T>C (p.Asp80=) rs1327484226 0.00001
NM_001040142.2(SCN2A):c.2499T>C (p.Leu833=) rs1699364670 0.00001
NM_001040142.2(SCN2A):c.2518T>C (p.Leu840=) rs768817318 0.00001
NM_001040142.2(SCN2A):c.2541A>T (p.Ser847=) rs776618474 0.00001
NM_001040142.2(SCN2A):c.255T>C (p.Tyr85=) rs199657941 0.00001
NM_001040142.2(SCN2A):c.2598T>G (p.Thr866=) rs1306050789 0.00001
NM_001040142.2(SCN2A):c.2643A>G (p.Leu881=) rs777805952 0.00001
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=) rs202006528 0.00001
NM_001040142.2(SCN2A):c.2799G>A (p.Leu933=) rs759837838 0.00001
NM_001040142.2(SCN2A):c.27A>T (p.Pro9=) rs1191664110 0.00001
NM_001040142.2(SCN2A):c.2802C>T (p.Ile934=) rs758408742 0.00001
NM_001040142.2(SCN2A):c.2811C>T (p.Arg937=) rs779791354 0.00001
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593 0.00001
NM_001040142.2(SCN2A):c.2919+16A>G rs1343240110 0.00001
NM_001040142.2(SCN2A):c.3048T>C (p.Phe1016=) rs1231094286 0.00001
NM_001040142.2(SCN2A):c.3084C>T (p.Ala1028=) rs1700076171 0.00001
NM_001040142.2(SCN2A):c.3133C>T (p.Leu1045=) rs369128399 0.00001
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 0.00001
NM_001040142.2(SCN2A):c.3306T>G (p.Thr1102=) rs1246050360 0.00001
NM_001040142.2(SCN2A):c.3318A>G (p.Pro1106=) rs751746800 0.00001
NM_001040142.2(SCN2A):c.3400-7T>C rs1469952990 0.00001
NM_001040142.2(SCN2A):c.3435G>A (p.Thr1145=) rs1345931602 0.00001
NM_001040142.2(SCN2A):c.3454G>A (p.Ala1152Thr) rs766523968 0.00001
NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln) rs773202451 0.00001
NM_001040142.2(SCN2A):c.3549G>A (p.Gln1183=) rs1402203523 0.00001
NM_001040142.2(SCN2A):c.3556A>G (p.Ile1186Val) rs1433862850 0.00001
NM_001040142.2(SCN2A):c.3561A>G (p.Glu1187=) rs1388551340 0.00001
NM_001040142.2(SCN2A):c.3570A>G (p.Lys1190=) rs765597357 0.00001
NM_001040142.2(SCN2A):c.3630C>T (p.Phe1210=) rs371422797 0.00001
NM_001040142.2(SCN2A):c.3675+7G>T rs369008860 0.00001
NM_001040142.2(SCN2A):c.3693C>T (p.Tyr1231=) rs1559395351 0.00001
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192 0.00001
NM_001040142.2(SCN2A):c.3789A>G (p.Ala1263=) rs771357111 0.00001
NM_001040142.2(SCN2A):c.3850-9T>C rs1273545144 0.00001
NM_001040142.2(SCN2A):c.3855A>C (p.Ser1285=) rs746426337 0.00001
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=) rs1225687118 0.00001
NM_001040142.2(SCN2A):c.4056T>C (p.Ser1352=) rs764921287 0.00001
NM_001040142.2(SCN2A):c.4121T>A (p.Met1374Lys) rs555250264 0.00001
NM_001040142.2(SCN2A):c.4129G>T (p.Val1377Leu) rs1407740477 0.00001
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905 0.00001
NM_001040142.2(SCN2A):c.4551+11C>T rs1292269804 0.00001
NM_001040142.2(SCN2A):c.4566A>C (p.Gly1522=) rs1309014295 0.00001
NM_001040142.2(SCN2A):c.4656C>T (p.Thr1552=) rs765041838 0.00001
NM_001040142.2(SCN2A):c.477-13T>C rs973711914 0.00001
NM_001040142.2(SCN2A):c.4818T>C (p.Ile1606=) rs771160474 0.00001
NM_001040142.2(SCN2A):c.4836T>G (p.Ala1612=) rs144133411 0.00001
NM_001040142.2(SCN2A):c.4977G>A (p.Ala1659=) rs1250394077 0.00001
NM_001040142.2(SCN2A):c.5175T>C (p.Asn1725=) rs1428775007 0.00001
NM_001040142.2(SCN2A):c.5289C>T (p.Ser1763=) rs1381791914 0.00001
NM_001040142.2(SCN2A):c.5316C>T (p.Ile1772=) rs946785343 0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233 0.00001
NM_001040142.2(SCN2A):c.5421C>G (p.Pro1807=) rs1457454456 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001040142.2(SCN2A):c.5487T>C (p.Leu1829=) rs1188907234 0.00001
NM_001040142.2(SCN2A):c.5520T>A (p.Ile1840=) rs1279372118 0.00001
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=) rs761713186 0.00001
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880 0.00001
NM_001040142.2(SCN2A):c.5625T>G (p.Leu1875=) rs374716270 0.00001
NM_001040142.2(SCN2A):c.5658A>C (p.Ser1886=) rs902710874 0.00001
NM_001040142.2(SCN2A):c.5691G>A (p.Thr1897=) rs780700291 0.00001
NM_001040142.2(SCN2A):c.5697G>A (p.Thr1899=) rs746574956 0.00001
NM_001040142.2(SCN2A):c.5733T>C (p.Ile1911=) rs376740497 0.00001
NM_001040142.2(SCN2A):c.5736C>T (p.Ile1912=) rs1324754723 0.00001
NM_001040142.2(SCN2A):c.5761T>C (p.Leu1921=) rs776934629 0.00001
NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=) rs776509462 0.00001
NM_001040142.2(SCN2A):c.5922G>A (p.Ser1974=) rs1260616318 0.00001
NM_001040142.2(SCN2A):c.783G>C (p.Val261=) rs1250340830 0.00001
NM_001040142.2(SCN2A):c.849A>G (p.Pro283=) rs1697368581 0.00001
NM_001040142.2(SCN2A):c.877A>G (p.Thr293Ala) rs1305687130 0.00001
NM_001040142.2(SCN2A):c.892A>G (p.Asn298Asp) rs754706708 0.00001
NM_001040142.2(SCN2A):c.971-10C>T rs1305298237 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001127644.2(GABRA1):c.1026T>C (p.Tyr342=) rs750925935 0.00001
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) rs1755340949 0.00001
NM_001127644.2(GABRA1):c.1104C>T (p.Tyr368=) rs771832995 0.00001
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val) rs771316858 0.00001
NM_001127644.2(GABRA1):c.1179A>C (p.Ala393=) rs779528536 0.00001
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) rs541335259 0.00001
NM_001127644.2(GABRA1):c.219C>T (p.Phe73=) rs1436904885 0.00001
NM_001127644.2(GABRA1):c.256-9A>T rs1325544924 0.00001
NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro) rs762939760 0.00001
NM_001127644.2(GABRA1):c.372G>A (p.Pro124=) rs1378731581 0.00001
NM_001127644.2(GABRA1):c.378A>G (p.Thr126=) rs756299135 0.00001
NM_001127644.2(GABRA1):c.408C>T (p.Ala136=) rs771269673 0.00001
NM_001127644.2(GABRA1):c.459C>T (p.Thr153=) rs761693717 0.00001
NM_001127644.2(GABRA1):c.476+13G>A rs758229064 0.00001
NM_001127644.2(GABRA1):c.476+17T>C rs752753999 0.00001
NM_001127644.2(GABRA1):c.477-5T>C rs779231183 0.00001
NM_001127644.2(GABRA1):c.478C>T (p.Leu160=) rs1269683161 0.00001
NM_001127644.2(GABRA1):c.531C>T (p.Ala177=) rs747452052 0.00001
NM_001127644.2(GABRA1):c.704-18G>A rs758058259 0.00001
NM_001127644.2(GABRA1):c.74+10C>G rs557887445 0.00001
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=) rs779666888 0.00001
NM_001127644.2(GABRA1):c.857-5T>C rs543710675 0.00001
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=) rs374399356 0.00001
NM_001127644.2(GABRA1):c.972G>T (p.Val324=) rs145617915 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=) rs1057523726 0.00001
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501 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.4344G>A (p.Gln1448=) rs1357221237 0.00001
NM_001134407.3(GRIN2A):c.1008-10C>T rs1187421936 0.00001
NM_001134407.3(GRIN2A):c.1008A>G (p.Pro336=) rs754037282 0.00001
NM_001134407.3(GRIN2A):c.1020T>A (p.Asn340Lys) rs756673830 0.00001
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His) rs777505684 0.00001
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met) rs78929970 0.00001
NM_001134407.3(GRIN2A):c.1176G>A (p.Arg392=) rs1596494999 0.00001
NM_001134407.3(GRIN2A):c.1191C>T (p.Ser397=) rs1231295919 0.00001
NM_001134407.3(GRIN2A):c.1203G>A (p.Pro401=) rs369027920 0.00001
NM_001134407.3(GRIN2A):c.1233G>T (p.Leu411=) rs768782812 0.00001
NM_001134407.3(GRIN2A):c.1265T>C (p.Ile422Thr) rs372628324 0.00001
NM_001134407.3(GRIN2A):c.1284G>A (p.Thr428=) rs147211564 0.00001
NM_001134407.3(GRIN2A):c.1329-11T>C rs1400943927 0.00001
NM_001134407.3(GRIN2A):c.1340A>T (p.Asn447Ile) rs367543145 0.00001
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly) rs1273711716 0.00001
NM_001134407.3(GRIN2A):c.1392G>A (p.Leu464=) rs1245036969 0.00001
NM_001134407.3(GRIN2A):c.1425C>T (p.Tyr475=) rs774228933 0.00001
NM_001134407.3(GRIN2A):c.1437G>A (p.Leu479=) rs768988228 0.00001
NM_001134407.3(GRIN2A):c.1455T>C (p.His485=) rs183123732 0.00001
NM_001134407.3(GRIN2A):c.145C>A (p.Arg49Ser) rs1413736970 0.00001
NM_001134407.3(GRIN2A):c.1494T>C (p.Gly498=) rs777998695 0.00001
NM_001134407.3(GRIN2A):c.1497+20C>T rs1356254277 0.00001
NM_001134407.3(GRIN2A):c.1498-9T>C rs1272098613 0.00001
NM_001134407.3(GRIN2A):c.1593G>A (p.Thr531=) rs957436270 0.00001
NM_001134407.3(GRIN2A):c.1651+18T>C rs367980421 0.00001
NM_001134407.3(GRIN2A):c.1652-20C>T rs1358690928 0.00001
NM_001134407.3(GRIN2A):c.167G>T (p.Gly56Val) rs769971551 0.00001
NM_001134407.3(GRIN2A):c.1695G>C (p.Leu565=) rs1485070079 0.00001
NM_001134407.3(GRIN2A):c.1698C>T (p.Leu566=) rs367543142 0.00001
NM_001134407.3(GRIN2A):c.171C>T (p.Pro57=) rs781693549 0.00001
NM_001134407.3(GRIN2A):c.1740C>T (p.Ser580=) rs1296834781 0.00001
NM_001134407.3(GRIN2A):c.174G>T (p.Glu58Asp) rs1432050454 0.00001
NM_001134407.3(GRIN2A):c.1812T>A (p.Ala604=) rs760972725 0.00001
NM_001134407.3(GRIN2A):c.1833G>A (p.Leu611=) rs745506751 0.00001
NM_001134407.3(GRIN2A):c.1848C>T (p.Ser616=) rs372324916 0.00001
NM_001134407.3(GRIN2A):c.1932C>T (p.Ser644=) rs1596471786 0.00001
NM_001134407.3(GRIN2A):c.1986G>A (p.Val662=) rs1435276408 0.00001
NM_001134407.3(GRIN2A):c.1989C>T (p.Thr663=) rs756105228 0.00001
NM_001134407.3(GRIN2A):c.2008-10C>A rs1250803305 0.00001
NM_001134407.3(GRIN2A):c.2008-20C>A rs768456499 0.00001
NM_001134407.3(GRIN2A):c.2022T>G (p.His674Gln) rs910115733 0.00001
NM_001134407.3(GRIN2A):c.2145C>T (p.Asp715=) rs141471530 0.00001
NM_001134407.3(GRIN2A):c.2238G>A (p.Lys746=) rs1473479428 0.00001
NM_001134407.3(GRIN2A):c.2247C>T (p.Thr749=) rs202026070 0.00001
NM_001134407.3(GRIN2A):c.2271C>T (p.Ala757=) rs372459203 0.00001
NM_001134407.3(GRIN2A):c.2283T>C (p.Tyr761=) rs759271923 0.00001
NM_001134407.3(GRIN2A):c.2356+11G>A rs772691866 0.00001
NM_001134407.3(GRIN2A):c.2356+9C>T rs376853235 0.00001
NM_001134407.3(GRIN2A):c.2454G>A (p.Ala818=) rs762596013 0.00001
NM_001134407.3(GRIN2A):c.2472G>C (p.Leu824=) rs1458581648 0.00001
NM_001134407.3(GRIN2A):c.2505C>T (p.Phe835=) rs771342023 0.00001
NM_001134407.3(GRIN2A):c.2563G>A (p.Asp855Asn) rs796052564 0.00001
NM_001134407.3(GRIN2A):c.2566C>G (p.Arg856Gly) rs201072838 0.00001
NM_001134407.3(GRIN2A):c.258G>A (p.Val86=) rs774606054 0.00001
NM_001134407.3(GRIN2A):c.2595+16G>A rs779583842 0.00001
NM_001134407.3(GRIN2A):c.2601C>G (p.Ile867Met) rs768337205 0.00001
NM_001134407.3(GRIN2A):c.2626A>G (p.Ile876Val) rs1399604502 0.00001
NM_001134407.3(GRIN2A):c.2640G>A (p.Lys880=) rs778938265 0.00001
NM_001134407.3(GRIN2A):c.2681T>A (p.Met894Lys) rs775144380 0.00001
NM_001134407.3(GRIN2A):c.2752C>T (p.Pro918Ser) rs778940856 0.00001
NM_001134407.3(GRIN2A):c.2780G>C (p.Arg927Thr) rs752992319 0.00001
NM_001134407.3(GRIN2A):c.2794A>G (p.Met932Val) rs758671206 0.00001
NM_001134407.3(GRIN2A):c.2795T>C (p.Met932Thr) rs1050421930 0.00001
NM_001134407.3(GRIN2A):c.2805T>G (p.Val935=) rs762984731 0.00001
NM_001134407.3(GRIN2A):c.2809G>A (p.Asp937Asn) rs769602505 0.00001
NM_001134407.3(GRIN2A):c.285C>T (p.Ile95=) rs756116240 0.00001
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239 0.00001
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val) rs200526162 0.00001
NM_001134407.3(GRIN2A):c.3018G>A (p.Ala1006=) rs761132463 0.00001
NM_001134407.3(GRIN2A):c.3031C>T (p.Arg1011Trp) rs760522909 0.00001
NM_001134407.3(GRIN2A):c.3032G>A (p.Arg1011Gln) rs1163766811 0.00001
NM_001134407.3(GRIN2A):c.3052G>A (p.Val1018Met) rs775756583 0.00001
NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys) rs560057284 0.00001
NM_001134407.3(GRIN2A):c.3144C>A (p.Ser1048Arg) rs1900774977 0.00001
NM_001134407.3(GRIN2A):c.31G>C (p.Val11Leu) rs769657047 0.00001
NM_001134407.3(GRIN2A):c.3255C>T (p.Asn1085=) rs938766924 0.00001
NM_001134407.3(GRIN2A):c.3266C>T (p.Ser1089Leu) rs1064796981 0.00001
NM_001134407.3(GRIN2A):c.3293G>A (p.Cys1098Tyr) rs746257794 0.00001
NM_001134407.3(GRIN2A):c.3309C>T (p.Arg1103=) rs777266308 0.00001
NM_001134407.3(GRIN2A):c.3311C>T (p.Thr1104Ile) rs755577016 0.00001
NM_001134407.3(GRIN2A):c.333G>A (p.Gln111=) rs1286229927 0.00001
NM_001134407.3(GRIN2A):c.3348G>A (p.Lys1116=) rs766142005 0.00001
NM_001134407.3(GRIN2A):c.3351C>G (p.Ile1117Met) rs1462511588 0.00001
NM_001134407.3(GRIN2A):c.3393T>G (p.Asp1131Glu) rs1900748818 0.00001
NM_001134407.3(GRIN2A):c.3400C>A (p.Gln1134Lys) rs748967552 0.00001
NM_001134407.3(GRIN2A):c.3417G>T (p.Val1139=) rs1236610369 0.00001
NM_001134407.3(GRIN2A):c.3441C>T (p.Phe1147=) rs1455176676 0.00001
NM_001134407.3(GRIN2A):c.3518A>G (p.His1173Arg) rs199975988 0.00001
NM_001134407.3(GRIN2A):c.3530G>A (p.Gly1177Glu) rs745723771 0.00001
NM_001134407.3(GRIN2A):c.3623G>A (p.Arg1208Gln) rs780055204 0.00001
NM_001134407.3(GRIN2A):c.3627G>A (p.Gln1209=) rs1191216428 0.00001
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=) rs765614514 0.00001
NM_001134407.3(GRIN2A):c.3708C>T (p.Cys1236=) rs780909404 0.00001
NM_001134407.3(GRIN2A):c.3738T>C (p.Tyr1246=) rs757701588 0.00001
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530 0.00001
NM_001134407.3(GRIN2A):c.3875A>G (p.Tyr1292Cys) rs796052569 0.00001
NM_001134407.3(GRIN2A):c.38C>T (p.Pro13Leu) rs367543131 0.00001
NM_001134407.3(GRIN2A):c.4015A>G (p.Lys1339Glu) rs754686222 0.00001
NM_001134407.3(GRIN2A):c.4017A>G (p.Lys1339=) rs751221611 0.00001
NM_001134407.3(GRIN2A):c.4019A>G (p.Lys1340Arg) rs1411064283 0.00001
NM_001134407.3(GRIN2A):c.402C>T (p.Ile134=) rs587780352 0.00001
NM_001134407.3(GRIN2A):c.4038A>G (p.Gln1346=) rs765156643 0.00001
NM_001134407.3(GRIN2A):c.4109C>G (p.Ser1370Cys) rs762981158 0.00001
NM_001134407.3(GRIN2A):c.415-15T>G rs1057522859 0.00001
NM_001134407.3(GRIN2A):c.4151C>T (p.Ser1384Leu) rs866228360 0.00001
NM_001134407.3(GRIN2A):c.4176A>G (p.Pro1392=) rs886043681 0.00001
NM_001134407.3(GRIN2A):c.4209G>A (p.Ser1403=) rs558095250 0.00001
NM_001134407.3(GRIN2A):c.4224G>A (p.Thr1408=) rs773175225 0.00001
NM_001134407.3(GRIN2A):c.4230G>A (p.Ser1410=) rs762437402 0.00001
NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu) rs777328885 0.00001
NM_001134407.3(GRIN2A):c.426T>G (p.Ser142=) rs367543125 0.00001
NM_001134407.3(GRIN2A):c.4275G>A (p.Ser1425=) rs778315936 0.00001
NM_001134407.3(GRIN2A):c.4290T>G (p.Pro1430=) rs756705691 0.00001
NM_001134407.3(GRIN2A):c.4350T>C (p.Asn1450=) rs761187900 0.00001
NM_001134407.3(GRIN2A):c.4354C>T (p.Arg1452Cys) rs568622613 0.00001
NM_001134407.3(GRIN2A):c.4378A>G (p.Ile1460Val) rs146055721 0.00001
NM_001134407.3(GRIN2A):c.467C>T (p.Thr156Met) rs763500409 0.00001
NM_001134407.3(GRIN2A):c.498C>G (p.Asp166Glu) rs1433795312 0.00001
NM_001134407.3(GRIN2A):c.510C>T (p.Phe170=) rs113636131 0.00001
NM_001134407.3(GRIN2A):c.540C>T (p.Tyr180=) rs745815376 0.00001
NM_001134407.3(GRIN2A):c.570A>T (p.Thr190=) rs2044768067 0.00001
NM_001134407.3(GRIN2A):c.583T>C (p.Phe195Leu) rs1445598953 0.00001
NM_001134407.3(GRIN2A):c.60T>C (p.Gly20=) rs367543130 0.00001
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=) rs372649219 0.00001
NM_001134407.3(GRIN2A):c.702C>T (p.Asp234=) rs150208429 0.00001
NM_001134407.3(GRIN2A):c.712C>G (p.Leu238Val) rs899780729 0.00001
NM_001134407.3(GRIN2A):c.77C>T (p.Ala26Val) rs765986049 0.00001
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=) rs554338361 0.00001
NM_001134407.3(GRIN2A):c.904G>A (p.Ala302Thr) rs901717931 0.00001
NM_001134407.3(GRIN2A):c.915T>C (p.Ser305=) rs1052146446 0.00001
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys) rs765104792 0.00001
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg) rs374637415 0.00001
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389 0.00001
NM_001134407.3(GRIN2A):c.985G>A (p.Val329Ile) rs146610239 0.00001
NM_001134407.3(GRIN2A):c.990G>A (p.Pro330=) rs149902963 0.00001
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=) rs200711801 0.00001
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=) rs1243475474 0.00001
NM_001199107.2(TBC1D24):c.1142+7C>A rs1364280797 0.00001
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=) rs537494711 0.00001
NM_001199107.2(TBC1D24):c.1197G>A (p.Thr399=) rs568288551 0.00001
NM_001199107.2(TBC1D24):c.1206+13C>T rs376162122 0.00001
NM_001199107.2(TBC1D24):c.1206+7A>G rs2065771868 0.00001
NM_001199107.2(TBC1D24):c.1207-11C>T rs778247648 0.00001
NM_001199107.2(TBC1D24):c.1207-18C>T rs372876116 0.00001
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=) rs1165918189 0.00001
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=) rs761432102 0.00001
NM_001199107.2(TBC1D24):c.1302+17G>A rs1173044946 0.00001
NM_001199107.2(TBC1D24):c.1302+9G>A rs1197608274 0.00001
NM_001199107.2(TBC1D24):c.1303-14C>T rs1211054848 0.00001
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=) rs1231827471 0.00001
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=) rs552951046 0.00001
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=) rs1406537159 0.00001
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=) rs2065782529 0.00001
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=) rs1269959991 0.00001
NM_001199107.2(TBC1D24):c.1525+13A>C rs751260694 0.00001
NM_001199107.2(TBC1D24):c.1525+7G>A rs1041091510 0.00001
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=) rs757328220 0.00001
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=) rs747350771 0.00001
NM_001199107.2(TBC1D24):c.1554C>T (p.Ile518=) rs369958726 0.00001
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=) rs1217553094 0.00001
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=) rs1060502501 0.00001
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465 0.00001
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=) rs774354974 0.00001
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=) rs754301066 0.00001
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=) rs765624033 0.00001
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=) rs3810796 0.00001
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) rs1015174831 0.00001
NM_001199107.2(TBC1D24):c.420G>A (p.Leu140=) rs1400165650 0.00001
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=) rs776661155 0.00001
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372 0.00001
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287 0.00001
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=) rs746087403 0.00001
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) rs750100459 0.00001
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=) rs749531792 0.00001
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=) rs772786813 0.00001
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=) rs554758752 0.00001
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=) rs1246835125 0.00001
NM_001199107.2(TBC1D24):c.965+7C>T rs1244113744 0.00001
NM_001199107.2(TBC1D24):c.965+8G>A rs372247100 0.00001
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) rs1054785696 0.00001
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) rs886043654 0.00001
NM_001199107.2(TBC1D24):c.983+15G>A rs1172969040 0.00001
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711 0.00001
NM_001271.4(CHD2):c.1052+14C>G rs146319346 0.00001
NM_001271.4(CHD2):c.1104G>A (p.Glu368=) rs757569320 0.00001
NM_001271.4(CHD2):c.1154-6G>A rs1275001828 0.00001
NM_001271.4(CHD2):c.1188A>G (p.Thr396=) rs199553245 0.00001
NM_001271.4(CHD2):c.1199-9A>G rs1210573353 0.00001
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu) rs372219984 0.00001
NM_001271.4(CHD2):c.1248A>G (p.Lys416=) rs1034535662 0.00001
NM_001271.4(CHD2):c.1317T>C (p.Asn439=) rs753188917 0.00001
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe) rs763586960 0.00001
NM_001271.4(CHD2):c.1335C>T (p.His445=) rs140008471 0.00001
NM_001271.4(CHD2):c.1378-18T>C rs748100193 0.00001
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.1503-6C>T rs768998067 0.00001
NM_001271.4(CHD2):c.1572C>T (p.Ser524=) rs1019484868 0.00001
NM_001271.4(CHD2):c.1578G>A (p.Leu526=) rs763466775 0.00001
NM_001271.4(CHD2):c.159G>A (p.Ser53=) rs552271683 0.00001
NM_001271.4(CHD2):c.1668A>G (p.Ala556=) rs1060504937 0.00001
NM_001271.4(CHD2):c.174A>G (p.Glu58=) rs1168929886 0.00001
NM_001271.4(CHD2):c.1764G>A (p.Lys588=) rs139263117 0.00001
NM_001271.4(CHD2):c.1770C>T (p.Asn590=) rs149947056 0.00001
NM_001271.4(CHD2):c.1810-11T>C rs759545889 0.00001
NM_001271.4(CHD2):c.189G>T (p.Gln63His) rs568998233 0.00001
NM_001271.4(CHD2):c.1914C>T (p.Ser638=) rs1304257967 0.00001
NM_001271.4(CHD2):c.1968C>T (p.Leu656=) rs1159091696 0.00001
NM_001271.4(CHD2):c.2037G>A (p.Gly679=) rs1441816340 0.00001
NM_001271.4(CHD2):c.2098A>C (p.Arg700=) rs776453537 0.00001
NM_001271.4(CHD2):c.2189A>G (p.Lys730Arg) rs767965789 0.00001
NM_001271.4(CHD2):c.219C>G (p.Ser73=) rs140718403 0.00001
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile) rs1359060187 0.00001
NM_001271.4(CHD2):c.2350C>T (p.Leu784=) rs2053846480 0.00001
NM_001271.4(CHD2):c.249A>G (p.Lys83=) rs990673547 0.00001
NM_001271.4(CHD2):c.24C>T (p.Ser8=) rs1251726951 0.00001
NM_001271.4(CHD2):c.2505+19T>C rs1057521420 0.00001
NM_001271.4(CHD2):c.2506-13T>C rs751543942 0.00001
NM_001271.4(CHD2):c.2553C>T (p.Asp851=) rs2053887874 0.00001
NM_001271.4(CHD2):c.2577+12A>C rs769088995 0.00001
NM_001271.4(CHD2):c.2634A>G (p.Ser878=) rs914239234 0.00001
NM_001271.4(CHD2):c.2745A>G (p.Leu915=) rs1567150238 0.00001
NM_001271.4(CHD2):c.2751A>T (p.Thr917=) rs1233513499 0.00001
NM_001271.4(CHD2):c.2802A>G (p.Val934=) rs544488824 0.00001
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln) rs1158357314 0.00001
NM_001271.4(CHD2):c.2865A>G (p.Ser955=) rs769531663 0.00001
NM_001271.4(CHD2):c.2901G>A (p.Glu967=) rs755608958 0.00001
NM_001271.4(CHD2):c.2907A>G (p.Thr969=) rs2053970223 0.00001
NM_001271.4(CHD2):c.295-17G>A rs757490818 0.00001
NM_001271.4(CHD2):c.295-18G>C rs747188522 0.00001
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=) rs186862897 0.00001
NM_001271.4(CHD2):c.3066+8G>A rs376968734 0.00001
NM_001271.4(CHD2):c.3067-16G>A rs768858302 0.00001
NM_001271.4(CHD2):c.3067-6T>C rs901346678 0.00001
NM_001271.4(CHD2):c.30G>A (p.Glu10=) rs754725429 0.00001
NM_001271.4(CHD2):c.3177G>A (p.Glu1059=) rs764787401 0.00001
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=) rs1005206801 0.00001
NM_001271.4(CHD2):c.3190C>T (p.Leu1064=) rs752339272 0.00001
NM_001271.4(CHD2):c.3214C>A (p.Arg1072=) rs767106034 0.00001
NM_001271.4(CHD2):c.3238-13C>T rs368489730 0.00001
NM_001271.4(CHD2):c.3354G>C (p.Gly1118=) rs747316316 0.00001
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly) rs927604763 0.00001
NM_001271.4(CHD2):c.3399T>C (p.Asp1133=) rs972263908 0.00001
NM_001271.4(CHD2):c.3402A>G (p.Ala1134=) rs1596438065 0.00001
NM_001271.4(CHD2):c.3444C>T (p.Leu1148=) rs949834349 0.00001
NM_001271.4(CHD2):c.3455+9A>C rs199958087 0.00001
NM_001271.4(CHD2):c.3456-16A>G rs375354835 0.00001
NM_001271.4(CHD2):c.3456-19C>T rs780531827 0.00001
NM_001271.4(CHD2):c.3456-6C>T rs755464665 0.00001
NM_001271.4(CHD2):c.3483G>A (p.Glu1161=) rs747595052 0.00001
NM_001271.4(CHD2):c.3510G>A (p.Leu1170=) rs746728408 0.00001
NM_001271.4(CHD2):c.3570G>A (p.Glu1190=) rs1304626183 0.00001
NM_001271.4(CHD2):c.357A>G (p.Pro119=) rs770307318 0.00001
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=) rs753318183 0.00001
NM_001271.4(CHD2):c.3595+7G>A rs527839842 0.00001
NM_001271.4(CHD2):c.3639C>T (p.Ser1213=) rs373621677 0.00001
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=) rs113077918 0.00001
NM_001271.4(CHD2):c.3786G>A (p.Gly1262=) rs1440327194 0.00001
NM_001271.4(CHD2):c.3828T>C (p.His1276=) rs1171704093 0.00001
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=) rs1356992069 0.00001
NM_001271.4(CHD2):c.3894G>A (p.Pro1298=) rs754764864 0.00001
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=) rs745873112 0.00001
NM_001271.4(CHD2):c.3952T>C (p.Leu1318=) rs376550364 0.00001
NM_001271.4(CHD2):c.4008+8C>T rs764966782 0.00001
NM_001271.4(CHD2):c.4009-13T>C rs1161220634 0.00001
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser) rs776072657 0.00001
NM_001271.4(CHD2):c.4137+17C>T rs761732184 0.00001
NM_001271.4(CHD2):c.4137+18G>A rs1246012548 0.00001
NM_001271.4(CHD2):c.4137+9T>G rs774237978 0.00001
NM_001271.4(CHD2):c.4149G>A (p.Leu1383=) rs752784398 0.00001
NM_001271.4(CHD2):c.4227A>G (p.Lys1409=) rs917584577 0.00001
NM_001271.4(CHD2):c.4278+15C>T rs751745833 0.00001
NM_001271.4(CHD2):c.4278+8T>C rs1340343354 0.00001
NM_001271.4(CHD2):c.4321T>G (p.Ser1441Ala) rs1006566437 0.00001
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala) rs1184559933 0.00001
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=) rs750989875 0.00001
NM_001271.4(CHD2):c.4592+7A>G rs1384519631 0.00001
NM_001271.4(CHD2):c.4629T>C (p.Phe1543=) rs1488895664 0.00001
NM_001271.4(CHD2):c.4692+7T>C rs748728212 0.00001
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=) rs749592290 0.00001
NM_001271.4(CHD2):c.4791C>T (p.Thr1597=) rs560317096 0.00001
NM_001271.4(CHD2):c.4815G>A (p.Lys1605=) rs2054437516 0.00001
NM_001271.4(CHD2):c.4906+20T>C rs753889013 0.00001
NM_001271.4(CHD2):c.4907-9T>G rs747965948 0.00001
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn) rs748829883 0.00001
NM_001271.4(CHD2):c.4992G>A (p.Gln1664=) rs1289862557 0.00001
NM_001271.4(CHD2):c.5019C>T (p.His1673=) rs767814807 0.00001
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=) rs199851404 0.00001
NM_001271.4(CHD2):c.5076C>T (p.Asn1692=) rs901529415 0.00001
NM_001271.4(CHD2):c.5083T>C (p.Ser1695Pro) rs757945055 0.00001
NM_001271.4(CHD2):c.5100T>C (p.Tyr1700=) rs751251777 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001271.4(CHD2):c.5121A>G (p.Arg1707=) rs1429253236 0.00001
NM_001271.4(CHD2):c.5124C>T (p.Asp1708=) rs768703416 0.00001
NM_001271.4(CHD2):c.5148T>C (p.Tyr1716=) rs773497328 0.00001
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=) rs781575273 0.00001
NM_001271.4(CHD2):c.525A>G (p.Val175=) rs369466744 0.00001
NM_001271.4(CHD2):c.5310G>A (p.Leu1770=) rs1450537733 0.00001
NM_001271.4(CHD2):c.5328T>G (p.Pro1776=) rs1243275651 0.00001
NM_001271.4(CHD2):c.53A>G (p.Asn18Ser) rs1034044226 0.00001
NM_001271.4(CHD2):c.5437C>T (p.Leu1813=) rs1160530295 0.00001
NM_001271.4(CHD2):c.543C>A (p.Val181=) rs987898061 0.00001
NM_001271.4(CHD2):c.5478G>A (p.Arg1826=) rs769748892 0.00001
NM_001271.4(CHD2):c.551+16A>G rs1298978258 0.00001
NM_001271.4(CHD2):c.552-7A>G rs374413766 0.00001
NM_001271.4(CHD2):c.602A>T (p.Lys201Met) rs1369732003 0.00001
NM_001271.4(CHD2):c.660G>A (p.Arg220=) rs1466513798 0.00001
NM_001271.4(CHD2):c.677C>T (p.Ala226Val) rs1379301229 0.00001
NM_001271.4(CHD2):c.687C>T (p.Asn229=) rs752009455 0.00001
NM_001271.4(CHD2):c.798C>G (p.Val266=) rs1302498638 0.00001
NM_001271.4(CHD2):c.870C>T (p.Gly290=) rs748380979 0.00001
NM_001271.4(CHD2):c.918G>A (p.Gln306=) rs373093638 0.00001
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076 0.00001
NM_001323289.2(CDKL5):c.1066G>C (p.Ala356Pro) rs774594152 0.00001
NM_001323289.2(CDKL5):c.1086C>T (p.Ala362=) rs761253221 0.00001
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala) rs1187227979 0.00001
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491 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.1400A>G (p.His467Arg) rs267608631 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.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.1684A>G (p.Thr562Ala) rs376341076 0.00001
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302 0.00001
NM_001323289.2(CDKL5):c.1752A>G (p.Ser584=) rs1282721902 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.2031A>G (p.Thr677=) rs1416458696 0.00001
NM_001323289.2(CDKL5):c.2046+16A>G rs1157430431 0.00001
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190 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.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001323289.2(CDKL5):c.2496+14G>A rs1189045100 0.00001
NM_001323289.2(CDKL5):c.2556G>A (p.Pro852=) rs748905018 0.00001
NM_001323289.2(CDKL5):c.2679C>G (p.Pro893=) rs777919249 0.00001
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955 0.00001
NM_001323289.2(CDKL5):c.404-9A>G rs1037467164 0.00001
NM_001323289.2(CDKL5):c.555C>T (p.Gly185=) rs904580767 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.858C>T (p.Tyr286=) rs766511365 0.00001
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671 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_003159.3(CDKL5):c.2784G>A (p.Thr928=) rs369383134 0.00001
NM_003159.3(CDKL5):c.2881C>G (p.Pro961Ala) rs1064794669 0.00001
NM_004408.4(DNM1):c.1011C>T (p.Ala337=) rs753714670 0.00001
NM_004408.4(DNM1):c.1053C>T (p.Ile351=) rs1420306273 0.00001
NM_004408.4(DNM1):c.1098C>T (p.Phe366=) rs532535557 0.00001
NM_004408.4(DNM1):c.1101C>T (p.His367=) rs747430397 0.00001
NM_004408.4(DNM1):c.1116C>T (p.Phe372=) rs367584321 0.00001
NM_004408.4(DNM1):c.1137T>C (p.Phe379=) rs1835101654 0.00001
NM_004408.4(DNM1):c.1146G>A (p.Lys382=) rs150617335 0.00001
NM_004408.4(DNM1):c.1155A>C (p.Arg385=) rs140703430 0.00001
NM_004408.4(DNM1):c.1196+14C>T rs372024347 0.00001
NM_004408.4(DNM1):c.1197-4T>C rs1004698189 0.00001
NM_004408.4(DNM1):c.1197-6G>A rs767877912 0.00001
NM_004408.4(DNM1):c.1262G>A (p.Arg421Gln) rs769689269 0.00001
NM_004408.4(DNM1):c.1269G>A (p.Pro423=) rs1436554330 0.00001
NM_004408.4(DNM1):c.1335+7C>T rs201230726 0.00001
NM_004408.4(DNM1):c.1336-15C>T rs764771425 0.00001
NM_004408.4(DNM1):c.1336-7T>C rs550764968 0.00001
NM_004408.4(DNM1):c.1356A>G (p.Leu452=) rs756954152 0.00001
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln) rs750296552 0.00001
NM_004408.4(DNM1):c.1359G>A (p.Arg453=) rs968662562 0.00001
NM_004408.4(DNM1):c.1409G>A (p.Arg470His) rs763830358 0.00001
NM_004408.4(DNM1):c.1422+10G>A rs375886288 0.00001
NM_004408.4(DNM1):c.1422+16C>T rs766488967 0.00001
NM_004408.4(DNM1):c.1443C>T (p.Ile481=) rs778321233 0.00001
NM_004408.4(DNM1):c.1494-10C>T rs772807242 0.00001
NM_004408.4(DNM1):c.1494-15C>T rs375232749 0.00001
NM_004408.4(DNM1):c.150T>C (p.Asn50=) rs769600214 0.00001
NM_004408.4(DNM1):c.1524G>A (p.Lys508=) rs1057523085 0.00001
NM_004408.4(DNM1):c.1671+11G>C rs377034879 0.00001
NM_004408.4(DNM1):c.1743G>A (p.Ser581=) rs776254391 0.00001
NM_004408.4(DNM1):c.1894-5C>G rs1836928538 0.00001
NM_004408.4(DNM1):c.1932C>T (p.Ser644=) rs750934085 0.00001
NM_004408.4(DNM1):c.1956C>T (p.Asp652=) rs1564353077 0.00001
NM_004408.4(DNM1):c.199C>T (p.Arg67Cys) rs199575353 0.00001
NM_004408.4(DNM1):c.2070T>A (p.Ile690=) rs1019671226 0.00001
NM_004408.4(DNM1):c.2076+17A>G rs1361466672 0.00001
NM_004408.4(DNM1):c.2113C>T (p.Leu705=) rs752228958 0.00001
NM_004408.4(DNM1):c.2163G>A (p.Gln721=) rs146678077 0.00001
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser) rs551214260 0.00001
NM_004408.4(DNM1):c.2310C>T (p.Ala770=) rs1224582228 0.00001
NM_004408.4(DNM1):c.235+10C>T rs372579464 0.00001
NM_004408.4(DNM1):c.2361C>T (p.Ala787=) rs1041513039 0.00001
NM_004408.4(DNM1):c.2379C>T (p.Pro793=) rs1215135225 0.00001
NM_004408.4(DNM1):c.2418G>T (p.Gly806=) rs1413872976 0.00001
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter) rs752575279 0.00001
NM_004408.4(DNM1):c.354G>A (p.Val118=) rs1357577359 0.00001
NM_004408.4(DNM1):c.386-17C>T rs766023182 0.00001
NM_004408.4(DNM1):c.3G>T (p.Met1Ile) rs1401701364 0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln) rs763288862 0.00001
NM_004408.4(DNM1):c.528C>T (p.Pro176=) rs146242842 0.00001
NM_004408.4(DNM1):c.603C>T (p.Ile201=) rs1484030185 0.00001
NM_004408.4(DNM1):c.624C>T (p.Asp208=) rs1395270062 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.720G>A (p.Lys240=) rs969868074 0.00001
NM_004408.4(DNM1):c.804G>A (p.Leu268=) rs771201307 0.00001
NM_004408.4(DNM1):c.822G>A (p.Thr274=) rs765410948 0.00001
NM_004408.4(DNM1):c.853C>T (p.Leu285=) rs546034278 0.00001
NM_004408.4(DNM1):c.882G>A (p.Pro294=) rs559572430 0.00001
NM_004408.4(DNM1):c.920T>C (p.Ile307Thr) rs1052613908 0.00001
NM_004408.4(DNM1):c.924G>A (p.Glu308=) rs1364961903 0.00001
NM_004408.4(DNM1):c.990G>T (p.Leu330=) rs761236543 0.00001
NM_004408.4(DNM1):c.992+18C>T rs1320762709 0.00001
NM_004408.4(DNM1):c.992+19C>T rs1375346310 0.00001
NM_004519.4(KCNQ3):c.*6267T>C rs548690680 0.00001
NM_004519.4(KCNQ3):c.1020C>T (p.Gly340=) rs1490473853 0.00001
NM_004519.4(KCNQ3):c.1045-4C>T rs777650536 0.00001
NM_004519.4(KCNQ3):c.1056G>A (p.Gly352=) rs758522184 0.00001
NM_004519.4(KCNQ3):c.1128T>G (p.Ala376=) rs1359217626 0.00001
NM_004519.4(KCNQ3):c.1191G>A (p.Ala397=) rs763718116 0.00001
NM_004519.4(KCNQ3):c.121C>A (p.Arg41=) rs568033682 0.00001
NM_004519.4(KCNQ3):c.1236-4C>T rs768705754 0.00001
NM_004519.4(KCNQ3):c.1248G>A (p.Leu416=) rs913811509 0.00001
NM_004519.4(KCNQ3):c.1262+16T>G rs376689995 0.00001
NM_004519.4(KCNQ3):c.1368T>C (p.Ser456=) rs559321195 0.00001
NM_004519.4(KCNQ3):c.1466-12T>C rs1268220748 0.00001
NM_004519.4(KCNQ3):c.1470C>T (p.Ala490=) rs765705898 0.00001
NM_004519.4(KCNQ3):c.1491G>A (p.Ala497=) rs760918194 0.00001
NM_004519.4(KCNQ3):c.150G>A (p.Val50=) rs770416858 0.00001
NM_004519.4(KCNQ3):c.153G>A (p.Glu51=) rs1405186695 0.00001
NM_004519.4(KCNQ3):c.1548G>A (p.Lys516=) rs994157818 0.00001
NM_004519.4(KCNQ3):c.1568+13C>T rs373830701 0.00001
NM_004519.4(KCNQ3):c.1569-14A>G rs761057466 0.00001
NM_004519.4(KCNQ3):c.1698G>A (p.Thr566=) rs781066375 0.00001
NM_004519.4(KCNQ3):c.1722T>C (p.Pro574=) rs1554622049 0.00001
NM_004519.4(KCNQ3):c.1799+17T>C rs772154355 0.00001
NM_004519.4(KCNQ3):c.1800-12G>A rs761923188 0.00001
NM_004519.4(KCNQ3):c.1800-13C>T rs772137862 0.00001
NM_004519.4(KCNQ3):c.180A>G (p.Gly60=) rs756439288 0.00001
NM_004519.4(KCNQ3):c.183C>G (p.Ala61=) rs761977947 0.00001
NM_004519.4(KCNQ3):c.1938C>T (p.His646=) rs759859458 0.00001
NM_004519.4(KCNQ3):c.1965G>A (p.Thr655=) rs367587987 0.00001
NM_004519.4(KCNQ3):c.2034C>T (p.Ser678=) rs560675018 0.00001
NM_004519.4(KCNQ3):c.2123G>T (p.Ser708Ile) rs977989588 0.00001
NM_004519.4(KCNQ3):c.2169G>T (p.Gly723=) rs780315758 0.00001
NM_004519.4(KCNQ3):c.2220G>A (p.Thr740=) rs758265549 0.00001
NM_004519.4(KCNQ3):c.2238G>A (p.Thr746=) rs769350034 0.00001
NM_004519.4(KCNQ3):c.2340T>C (p.Arg780=) rs1326427779 0.00001
NM_004519.4(KCNQ3):c.2343C>T (p.Ser781=) rs200772304 0.00001
NM_004519.4(KCNQ3):c.2382G>A (p.Ser794=) rs767575527 0.00001
NM_004519.4(KCNQ3):c.2391C>T (p.His797=) rs763446963 0.00001
NM_004519.4(KCNQ3):c.240G>A (p.Arg80=) rs587781012 0.00001
NM_004519.4(KCNQ3):c.2433G>A (p.Gln811=) rs747219299 0.00001
NM_004519.4(KCNQ3):c.2451G>T (p.Val817=) rs754874948 0.00001
NM_004519.4(KCNQ3):c.2472G>C (p.Ser824=) rs774287489 0.00001
NM_004519.4(KCNQ3):c.2492G>A (p.Arg831Gln) rs149004528 0.00001
NM_004519.4(KCNQ3):c.2520A>G (p.Thr840=) rs780185117 0.00001
NM_004519.4(KCNQ3):c.2526G>A (p.Thr842=) rs749906898 0.00001
NM_004519.4(KCNQ3):c.2562G>A (p.Ser854=) rs201736771 0.00001
NM_004519.4(KCNQ3):c.2568A>G (p.Thr856=) rs774499417 0.00001
NM_004519.4(KCNQ3):c.267C>T (p.Ala89=) rs376211413 0.00001
NM_004519.4(KCNQ3):c.386+18C>G rs560407473 0.00001
NM_004519.4(KCNQ3):c.39C>T (p.Gly13=) rs1313781213 0.00001
NM_004519.4(KCNQ3):c.429C>A (p.Thr143=) rs1257391946 0.00001
NM_004519.4(KCNQ3):c.42C>T (p.Gly14=) rs1395792790 0.00001
NM_004519.4(KCNQ3):c.456G>A (p.Ser152=) rs750676667 0.00001
NM_004519.4(KCNQ3):c.477+7T>C rs757078055 0.00001
NM_004519.4(KCNQ3):c.478-10T>G rs1263147270 0.00001
NM_004519.4(KCNQ3):c.478-20C>T rs543697742 0.00001
NM_004519.4(KCNQ3):c.604+10G>T rs541587196 0.00001
NM_004519.4(KCNQ3):c.606C>T (p.Asp202=) rs1332414085 0.00001
NM_004519.4(KCNQ3):c.624C>T (p.Ala208=) rs747188490 0.00001
NM_004519.4(KCNQ3):c.690C>T (p.Arg230=) rs779577320 0.00001
NM_004519.4(KCNQ3):c.789G>A (p.Thr263=) rs762086066 0.00001
NM_004519.4(KCNQ3):c.801C>T (p.Ile267=) rs768436228 0.00001
NM_004519.4(KCNQ3):c.813A>G (p.Thr271=) rs762710625 0.00001
NM_004519.4(KCNQ3):c.81C>T (p.Asn27=) rs1271630840 0.00001
NM_004519.4(KCNQ3):c.867G>A (p.Val289=) rs570123407 0.00001
NM_004519.4(KCNQ3):c.873A>C (p.Ala291=) rs1288709591 0.00001
NM_004519.4(KCNQ3):c.891A>G (p.Lys297=) rs757426539 0.00001
NM_004519.4(KCNQ3):c.897G>A (p.Glu299=) rs367611806 0.00001
NM_004519.4(KCNQ3):c.918C>T (p.Ala306=) rs997018866 0.00001
NM_004519.4(KCNQ3):c.933+8A>G rs1259700908 0.00001
NM_004519.4(KCNQ3):c.978G>A (p.Thr326=) rs751628183 0.00001
NM_004519.4(KCNQ3):c.999C>T (p.Ala333=) rs764352803 0.00001
NM_005076.5(CNTN2):c.1035T>C (p.Arg345=) rs373583007 0.00001
NM_005076.5(CNTN2):c.1053C>T (p.Ala351=) rs140963950 0.00001
NM_005076.5(CNTN2):c.1071A>T (p.Thr357=) rs1340324829 0.00001
NM_005076.5(CNTN2):c.1111-11C>T rs765974056 0.00001
NM_005076.5(CNTN2):c.1125G>A (p.Val375=) rs758300776 0.00001
NM_005076.5(CNTN2):c.1173C>A (p.Gly391=) rs370344142 0.00001
NM_005076.5(CNTN2):c.1240+8G>A rs773641285 0.00001
NM_005076.5(CNTN2):c.1293C>T (p.Ala431=) rs1173989105 0.00001
NM_005076.5(CNTN2):c.1296C>T (p.Arg432=) rs781749087 0.00001
NM_005076.5(CNTN2):c.1347G>A (p.Val449=) rs781410852 0.00001
NM_005076.5(CNTN2):c.1391+13C>T rs761450268 0.00001
NM_005076.5(CNTN2):c.1391+15C>T rs569433119 0.00001
NM_005076.5(CNTN2):c.1554C>T (p.Ala518=) rs769684489 0.00001
NM_005076.5(CNTN2):c.1578G>A (p.Leu526=) rs998708044 0.00001
NM_005076.5(CNTN2):c.1695+7C>T rs1433018634 0.00001
NM_005076.5(CNTN2):c.1878C>A (p.Leu626=) rs1486789598 0.00001
NM_005076.5(CNTN2):c.1980T>C (p.Pro660=) rs760622164 0.00001
NM_005076.5(CNTN2):c.198C>T (p.Ser66=) rs1653745328 0.00001
NM_005076.5(CNTN2):c.2019G>T (p.Leu673=) rs776431413 0.00001
NM_005076.5(CNTN2):c.2154C>T (p.Ser718=) rs1177695422 0.00001
NM_005076.5(CNTN2):c.216-15T>G rs780295997 0.00001
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=) rs756031843 0.00001
NM_005076.5(CNTN2):c.2232C>T (p.Phe744=) rs866464813 0.00001
NM_005076.5(CNTN2):c.2280C>T (p.Thr760=) rs767244012 0.00001
NM_005076.5(CNTN2):c.2431+12C>G rs1436970258 0.00001
NM_005076.5(CNTN2):c.2432-6C>T rs766760353 0.00001
NM_005076.5(CNTN2):c.2432-8G>T rs374180490 0.00001
NM_005076.5(CNTN2):c.2490C>T (p.Asn830=) rs776333018 0.00001
NM_005076.5(CNTN2):c.2505C>T (p.Pro835=) rs1279325074 0.00001
NM_005076.5(CNTN2):c.2544+15G>A rs1451392241 0.00001
NM_005076.5(CNTN2):c.2545-9C>T rs766586200 0.00001
NM_005076.5(CNTN2):c.2661C>T (p.Thr887=) rs769988245 0.00001
NM_005076.5(CNTN2):c.2712C>T (p.Asn904=) rs1339606709 0.00001
NM_005076.5(CNTN2):c.2731+16T>C rs749504685 0.00001
NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met) rs369729930 0.00001
NM_005076.5(CNTN2):c.3009T>C (p.Asn1003=) rs757390584 0.00001
NM_005076.5(CNTN2):c.3069C>T (p.Thr1023=) rs756612071 0.00001
NM_005076.5(CNTN2):c.3090G>A (p.Ala1030=) rs772810010 0.00001
NM_005076.5(CNTN2):c.3114G>A (p.Leu1038=) rs946694379 0.00001
NM_005076.5(CNTN2):c.3122G>A (p.Ter1041=) rs1654722229 0.00001
NM_005076.5(CNTN2):c.391+9C>T rs531062186 0.00001
NM_005076.5(CNTN2):c.423C>T (p.Asp141=) rs774281069 0.00001
NM_005076.5(CNTN2):c.468C>T (p.Asn156=) rs1395072638 0.00001
NM_005076.5(CNTN2):c.576G>A (p.Leu192=) rs1232729829 0.00001
NM_005076.5(CNTN2):c.594T>C (p.Asn198=) rs143234717 0.00001
NM_005076.5(CNTN2):c.657C>T (p.Ser219=) rs752354425 0.00001
NM_005076.5(CNTN2):c.71-19G>A rs762328579 0.00001
NM_005076.5(CNTN2):c.765G>A (p.Gln255=) rs1318994065 0.00001
NM_005076.5(CNTN2):c.885C>T (p.Ser295=) rs765220880 0.00001
NM_005076.5(CNTN2):c.974-4A>G rs1653998862 0.00001
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln) rs780826701 0.00001
NM_007254.4(PNKP):c.1029+16G>A rs982882766 0.00001
NM_007254.4(PNKP):c.1050G>A (p.Gly350=) rs1194208521 0.00001
NM_007254.4(PNKP):c.1056C>G (p.Leu352=) rs767011520 0.00001
NM_007254.4(PNKP):c.1074G>A (p.Arg358=) rs771883677 0.00001
NM_007254.4(PNKP):c.1107C>T (p.Val369=) rs1233198739 0.00001
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101 0.00001
NM_007254.4(PNKP):c.1126+10C>T rs1459307960 0.00001
NM_007254.4(PNKP):c.1127-6A>C rs936791908 0.00001
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233 0.00001
NM_007254.4(PNKP):c.1188+19C>T rs1484018266 0.00001
NM_007254.4(PNKP):c.1188+20G>A rs779991747 0.00001
NM_007254.4(PNKP):c.1189-10G>C rs1458942967 0.00001
NM_007254.4(PNKP):c.1189-15C>G rs1385478589 0.00001
NM_007254.4(PNKP):c.1200C>T (p.Gly400=) rs1188834887 0.00001
NM_007254.4(PNKP):c.1212C>T (p.Arg404=) rs775042023 0.00001
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305 0.00001
NM_007254.4(PNKP):c.1239G>A (p.Leu413=) rs1488660891 0.00001
NM_007254.4(PNKP):c.1287G>A (p.Ala429=) rs1281900821 0.00001
NM_007254.4(PNKP):c.1287G>C (p.Ala429=) rs1281900821 0.00001
NM_007254.4(PNKP):c.1293C>T (p.Arg431=) rs143390809 0.00001
NM_007254.4(PNKP):c.1299-11T>C rs776421692 0.00001
NM_007254.4(PNKP):c.1299-5C>T rs1057522419 0.00001
NM_007254.4(PNKP):c.1299-9C>T rs1055654261 0.00001
NM_007254.4(PNKP):c.1323G>A (p.Ala441=) rs778138676 0.00001
NM_007254.4(PNKP):c.1383C>T (p.Asn461=) rs745974624 0.00001
NM_007254.4(PNKP):c.1386+46C>T rs767727372 0.00001
NM_007254.4(PNKP):c.1387-12T>C rs1446884587 0.00001
NM_007254.4(PNKP):c.1387-38G>A rs1568658400 0.00001
NM_007254.4(PNKP):c.1387-47dup rs747142211 0.00001
NM_007254.4(PNKP):c.1387-4A>C rs774527024 0.00001
NM_007254.4(PNKP):c.1387-8C>T rs541604147 0.00001
NM_007254.4(PNKP):c.1416C>T (p.Ile472=) rs1406190021 0.00001
NM_007254.4(PNKP):c.1448+16G>A rs1468792596 0.00001
NM_007254.4(PNKP):c.1448+7T>C rs775646444 0.00001
NM_007254.4(PNKP):c.152-18C>G rs779728115 0.00001
NM_007254.4(PNKP):c.1551G>A (p.Gln517=) rs771913446 0.00001
NM_007254.4(PNKP):c.199-13T>C rs557741670 0.00001
NM_007254.4(PNKP):c.199-18C>G rs769513325 0.00001
NM_007254.4(PNKP):c.24C>T (p.Gly8=) rs1057522863 0.00001
NM_007254.4(PNKP):c.267G>T (p.Val89=) rs531640505 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.579-5C>T rs767753048 0.00001
NM_007254.4(PNKP):c.585G>A (p.Leu195=) rs770100322 0.00001
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706 0.00001
NM_007254.4(PNKP):c.636+12C>T rs768950578 0.00001
NM_007254.4(PNKP):c.636+19C>G rs777095183 0.00001
NM_007254.4(PNKP):c.637-6C>T rs1421820816 0.00001
NM_007254.4(PNKP):c.657G>A (p.Gln219=) rs1332607261 0.00001
NM_007254.4(PNKP):c.723G>A (p.Glu241=) rs778970176 0.00001
NM_007254.4(PNKP):c.741C>T (p.Phe247=) rs767980504 0.00001
NM_007254.4(PNKP):c.744+8T>C rs587784370 0.00001
NM_007254.4(PNKP):c.759G>A (p.Thr253=) rs1057522106 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.780G>A (p.Lys260=) rs1019739332 0.00001
NM_007254.4(PNKP):c.792C>T (p.Gly264=) rs1188638021 0.00001
NM_007254.4(PNKP):c.817-5C>T rs398124250 0.00001
NM_007254.4(PNKP):c.865+20T>C rs921950177 0.00001
NM_007254.4(PNKP):c.873C>T (p.Ala291=) rs749641401 0.00001
NM_007254.4(PNKP):c.936+10C>T rs750891370 0.00001
NM_007254.4(PNKP):c.936+8C>T rs763573850 0.00001
NM_007254.4(PNKP):c.942C>T (p.Ala314=) rs1268054245 0.00001
NM_007254.4(PNKP):c.960C>T (p.Pro320=) rs2074781901 0.00001
NM_007254.4(PNKP):c.969G>A (p.Thr323=) rs1257495491 0.00001
NM_007254.4(PNKP):c.987C>T (p.Leu329=) rs150644303 0.00001
NM_012281.3(KCND2):c.108A>G (p.Lys36=) rs759371689 0.00001
NM_012281.3(KCND2):c.1095C>T (p.Ile365=) rs764081621 0.00001
NM_012281.3(KCND2):c.1116-8T>C rs1162564000 0.00001
NM_012281.3(KCND2):c.1164T>A (p.Ser388=) rs1244557597 0.00001
NM_012281.3(KCND2):c.1182G>A (p.Gly394=) rs1402229920 0.00001
NM_012281.3(KCND2):c.1227C>T (p.Phe409=) rs753977756 0.00001
NM_012281.3(KCND2):c.1254A>G (p.Arg418=) rs947120230 0.00001
NM_012281.3(KCND2):c.1314C>T (p.Ser438=) rs758879867 0.00001
NM_012281.3(KCND2):c.1325A>G (p.Asn442Ser) rs957617040 0.00001
NM_012281.3(KCND2):c.1329T>C (p.Ala443=) rs1161024740 0.00001
NM_012281.3(KCND2):c.1374+18del rs780298667 0.00001
NM_012281.3(KCND2):c.1485C>T (p.Asp495=) rs772458094 0.00001
NM_012281.3(KCND2):c.1662A>G (p.Gln554=) rs149174897 0.00001
NM_012281.3(KCND2):c.1833C>T (p.Asp611=) rs751906335 0.00001
NM_012281.3(KCND2):c.234A>C (p.Pro78=) rs547897725 0.00001
NM_012281.3(KCND2):c.249T>C (p.Tyr83=) rs757892556 0.00001
NM_012281.3(KCND2):c.321T>C (p.Pro107=) rs775550938 0.00001
NM_012281.3(KCND2):c.336C>A (p.Ile112=) rs774763376 0.00001
NM_012281.3(KCND2):c.366T>C (p.Phe122=) rs1436911197 0.00001
NM_012281.3(KCND2):c.384C>A (p.Ile128=) rs571281706 0.00001
NM_012281.3(KCND2):c.402T>C (p.Tyr134=) rs777246112 0.00001
NM_012281.3(KCND2):c.585T>C (p.Ile195=) rs1235035337 0.00001
NM_012281.3(KCND2):c.648T>A (p.Ile216=) rs773347530 0.00001
NM_012281.3(KCND2):c.702G>A (p.Thr234=) rs141583673 0.00001
NM_012281.3(KCND2):c.930G>A (p.Leu310=) rs1359896450 0.00001
NM_012281.3(KCND2):c.975C>T (p.Gly325=) rs747037415 0.00001
NM_012281.3(KCND2):c.990G>A (p.Ser330=) rs367633670 0.00001
NM_015192.4(PLCB1):c.1010-4A>G rs1208664909 0.00001
NM_015192.4(PLCB1):c.1014C>A (p.Gly338=) rs760110304 0.00001
NM_015192.4(PLCB1):c.1059C>T (p.Leu353=) rs765550076 0.00001
NM_015192.4(PLCB1):c.1128C>T (p.Ile376=) rs1450261335 0.00001
NM_015192.4(PLCB1):c.1167+11T>C rs756079683 0.00001
NM_015192.4(PLCB1):c.1168-16G>T rs369578844 0.00001
NM_015192.4(PLCB1):c.117T>C (p.Thr39=) rs371499786 0.00001
NM_015192.4(PLCB1):c.129G>A (p.Leu43=) rs374402412 0.00001
NM_015192.4(PLCB1):c.12T>C (p.Ala4=) rs757558506 0.00001
NM_015192.4(PLCB1):c.1321C>T (p.Leu441=) rs1332948192 0.00001
NM_015192.4(PLCB1):c.1446C>T (p.Leu482=) rs372481162 0.00001
NM_015192.4(PLCB1):c.1513+12G>T rs1466798040 0.00001
NM_015192.4(PLCB1):c.1513+7G>A rs748079484 0.00001
NM_015192.4(PLCB1):c.1582-10C>T rs770810162 0.00001
NM_015192.4(PLCB1):c.1584G>A (p.Gly528=) rs957436764 0.00001
NM_015192.4(PLCB1):c.1590T>C (p.Ala530=) rs751676929 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1698A>G (p.Glu566=) rs774696079 0.00001
NM_015192.4(PLCB1):c.1710C>T (p.Phe570=) rs772233698 0.00001
NM_015192.4(PLCB1):c.1752G>C (p.Val584=) rs370361540 0.00001
NM_015192.4(PLCB1):c.1782T>C (p.Leu594=) rs878855005 0.00001
NM_015192.4(PLCB1):c.1839C>T (p.Leu613=) rs756005851 0.00001
NM_015192.4(PLCB1):c.186G>A (p.Glu62=) rs770172716 0.00001
NM_015192.4(PLCB1):c.1888+10T>C rs1429911952 0.00001
NM_015192.4(PLCB1):c.1889-4T>G rs1474211054 0.00001
NM_015192.4(PLCB1):c.1929C>T (p.Asn643=) rs757435266 0.00001
NM_015192.4(PLCB1):c.2007C>T (p.Ile669=) rs373550621 0.00001
NM_015192.4(PLCB1):c.2067T>C (p.Ser689=) rs1016422043 0.00001
NM_015192.4(PLCB1):c.2235G>A (p.Leu745=) rs587780416 0.00001
NM_015192.4(PLCB1):c.2244A>C (p.Ala748=) rs1208701865 0.00001
NM_015192.4(PLCB1):c.2309-10C>T rs1336127825 0.00001
NM_015192.4(PLCB1):c.2329A>C (p.Arg777=) rs1467021390 0.00001
NM_015192.4(PLCB1):c.2421C>T (p.Ile807=) rs768060162 0.00001
NM_015192.4(PLCB1):c.2657-15T>C rs779343687 0.00001
NM_015192.4(PLCB1):c.2691T>C (p.Leu897=) rs1360354865 0.00001
NM_015192.4(PLCB1):c.2711-17A>C rs769765757 0.00001
NM_015192.4(PLCB1):c.2736A>G (p.Glu912=) rs760894841 0.00001
NM_015192.4(PLCB1):c.2769A>G (p.Gln923=) rs1207055034 0.00001
NM_015192.4(PLCB1):c.2784A>G (p.Lys928=) rs1185092500 0.00001
NM_015192.4(PLCB1):c.2886G>A (p.Arg962=) rs1488153462 0.00001
NM_015192.4(PLCB1):c.2892C>T (p.Ala964=) rs546783466 0.00001
NM_015192.4(PLCB1):c.2930+17T>G rs754899592 0.00001
NM_015192.4(PLCB1):c.3111+7C>T rs749548164 0.00001
NM_015192.4(PLCB1):c.3300G>T (p.Arg1100=) rs370182417 0.00001
NM_015192.4(PLCB1):c.3339A>G (p.Leu1113=) rs757919673 0.00001
NM_015192.4(PLCB1):c.3348G>A (p.Ala1116=) rs587780417 0.00001
NM_015192.4(PLCB1):c.3366A>G (p.Glu1122=) rs762035591 0.00001
NM_015192.4(PLCB1):c.3372C>T (p.Leu1124=) rs530567846 0.00001
NM_015192.4(PLCB1):c.3423+7G>A rs371050518 0.00001
NM_015192.4(PLCB1):c.3424-20C>T rs1167790783 0.00001
NM_015192.4(PLCB1):c.3424-9G>A rs1045955231 0.00001
NM_015192.4(PLCB1):c.3432G>T (p.Val1144=) rs756201478 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.3492C>T (p.Phe1164=) rs1184688670 0.00001
NM_015192.4(PLCB1):c.3549T>C (p.Pro1183=) rs780459225 0.00001
NM_015192.4(PLCB1):c.354T>C (p.Asn118=) rs766604971 0.00001
NM_015192.4(PLCB1):c.357C>T (p.Leu119=) rs754371354 0.00001
NM_015192.4(PLCB1):c.385-9A>G rs762641125 0.00001
NM_015192.4(PLCB1):c.387A>G (p.Glu129=) rs764014646 0.00001
NM_015192.4(PLCB1):c.405C>T (p.Phe135=) rs1170601854 0.00001
NM_015192.4(PLCB1):c.42G>A (p.Lys14=) rs775655063 0.00001
NM_015192.4(PLCB1):c.432A>G (p.Gln144=) rs142874818 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015192.4(PLCB1):c.519-14T>C rs896154135 0.00001
NM_015192.4(PLCB1):c.528C>G (p.Arg176=) rs1989250535 0.00001
NM_015192.4(PLCB1):c.564T>A (p.Ala188=) rs775374724 0.00001
NM_015192.4(PLCB1):c.570G>A (p.Glu190=) rs966250838 0.00001
NM_015192.4(PLCB1):c.595-17G>A rs776894788 0.00001
NM_015192.4(PLCB1):c.723C>T (p.Thr241=) rs781550034 0.00001
NM_015192.4(PLCB1):c.862+16C>T rs751879371 0.00001
NM_015192.4(PLCB1):c.862+7dup rs1374117351 0.00001
NM_015192.4(PLCB1):c.867A>G (p.Gln289=) rs746884664 0.00001
NM_015192.4(PLCB1):c.942G>A (p.Leu314=) rs182563538 0.00001
NM_015192.4(PLCB1):c.963C>A (p.Pro321=) rs779382331 0.00001
NM_015192.4(PLCB1):c.99+12G>C rs763276609 0.00001
NM_016373.4(WWOX):c.1057-18T>G rs780546419 0.00001
NM_016373.4(WWOX):c.107+12G>T rs753626622 0.00001
NM_016373.4(WWOX):c.107+16T>G rs1313734754 0.00001
NM_016373.4(WWOX):c.1107G>A (p.Glu369=) rs369673368 0.00001
NM_016373.4(WWOX):c.1143C>T (p.Arg381=) rs1427739406 0.00001
NM_016373.4(WWOX):c.1158A>G (p.Pro386=) rs755586346 0.00001
NM_016373.4(WWOX):c.117G>A (p.Glu39=) rs368245025 0.00001
NM_016373.4(WWOX):c.1227T>C (p.Leu409=) rs1370851633 0.00001
NM_016373.4(WWOX):c.172+7A>G rs1307853735 0.00001
NM_016373.4(WWOX):c.173-9G>A rs768579025 0.00001
NM_016373.4(WWOX):c.216A>G (p.Gln72=) rs754962104 0.00001
NM_016373.4(WWOX):c.222T>C (p.Phe74=) rs748079925 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.231-20C>G rs768620458 0.00001
NM_016373.4(WWOX):c.231-6G>T rs987981847 0.00001
NM_016373.4(WWOX):c.24G>A (p.Gly8=) rs960284644 0.00001
NM_016373.4(WWOX):c.273G>A (p.Ala91=) rs778288592 0.00001
NM_016373.4(WWOX):c.303A>G (p.Pro101=) rs761783544 0.00001
NM_016373.4(WWOX):c.372C>A (p.Gly124=) rs1427515892 0.00001
NM_016373.4(WWOX):c.410-19A>G rs201778955 0.00001
NM_016373.4(WWOX):c.567C>T (p.Ser189=) rs201593515 0.00001
NM_016373.4(WWOX):c.579T>C (p.Phe193=) rs554077107 0.00001
NM_016373.4(WWOX):c.605+10C>G rs201186695 0.00001
NM_016373.4(WWOX):c.605+11C>T rs1271857180 0.00001
NM_016373.4(WWOX):c.605+19G>A rs199843934 0.00001
NM_016373.4(WWOX):c.678G>A (p.Glu226=) rs750905852 0.00001
NM_016373.4(WWOX):c.78C>T (p.Thr26=) rs761493229 0.00001
NM_016373.4(WWOX):c.791+11A>G rs779754174 0.00001
NM_016373.4(WWOX):c.843T>A (p.Ser281=) rs367855242 0.00001
NM_016373.4(WWOX):c.866C>T (p.Ala289Val) rs753894507 0.00001
NM_016373.4(WWOX):c.906C>T (p.Leu302=) rs377404672 0.00001
NM_016373.4(WWOX):c.945G>A (p.Gly315=) rs1232491002 0.00001
NM_016373.4(WWOX):c.948C>G (p.Val316=) rs201986739 0.00001
NM_016373.4(WWOX):c.954G>A (p.Ser318=) rs971458936 0.00001
NM_016373.4(WWOX):c.999C>T (p.Arg333=) rs774462234 0.00001
NM_016373.4(WWOX):c.99C>T (p.Tyr33=) rs760762887 0.00001
NM_016373.4(WWOX):c.9G>C (p.Ala3=) rs778036247 0.00001
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=) rs1163603161 0.00001
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=) rs200024100 0.00001
NM_018100.4(EFHC1):c.1104T>C (p.Asp368=) rs754355317 0.00001
NM_018100.4(EFHC1):c.1279-8C>G rs751569889 0.00001
NM_018100.4(EFHC1):c.1449C>G (p.Val483=) rs999038193 0.00001
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827 0.00001
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu) rs370815762 0.00001
NM_018100.4(EFHC1):c.1640+19G>C rs1303813611 0.00001
NM_018100.4(EFHC1):c.1641-8C>A rs1222704866 0.00001
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala) rs543750772 0.00001
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672 0.00001
NM_018100.4(EFHC1):c.249G>A (p.Ala83=) rs149627167 0.00001
NM_018100.4(EFHC1):c.288A>G (p.Val96=) rs1029149593 0.00001
NM_018100.4(EFHC1):c.333T>C (p.Thr111=) rs371542229 0.00001
NM_018100.4(EFHC1):c.339A>G (p.Glu113=) rs774056218 0.00001
NM_018100.4(EFHC1):c.639T>C (p.Thr213=) rs1249877509 0.00001
NM_018100.4(EFHC1):c.681A>G (p.Ser227=) rs772096798 0.00001
NM_018100.4(EFHC1):c.702A>G (p.Gln234=) rs1359654256 0.00001
NM_018100.4(EFHC1):c.789C>T (p.Ile263=) rs148936911 0.00001
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys) rs553105915 0.00001
NM_018100.4(EFHC1):c.917-7A>C rs1266698847 0.00001
NM_018100.4(EFHC1):c.961T>C (p.Leu321=) rs751733899 0.00001
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=) rs753868121 0.00001
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=) rs1259091648 0.00001
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=) rs761519926 0.00001
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=) rs745614463 0.00001
NM_021098.3(CACNA1H):c.2452-12C>T rs762240161 0.00001
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=) rs960703593 0.00001
NM_021098.3(CACNA1H):c.3064-15C>T rs371897810 0.00001
NM_021098.3(CACNA1H):c.312C>T (p.His104=) rs370735613 0.00001
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=) rs200922359 0.00001
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=) rs200353061 0.00001
NM_021098.3(CACNA1H):c.4038+8G>A rs555282047 0.00001
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=) rs776954477 0.00001
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=) rs779699766 0.00001
NM_021098.3(CACNA1H):c.545+10G>T rs748867788 0.00001
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=) rs758391189 0.00001
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=) rs896695448 0.00001
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=) rs766357140 0.00001
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=) rs759684037 0.00001
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=) rs113962757 0.00001
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=) rs1176114621 0.00001
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=) rs747311145 0.00001
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=) rs761655532 0.00001
NM_032776.3(JMJD1C):c.1248C>G (p.Pro416=) rs1459771179 0.00001
NM_032776.3(JMJD1C):c.1404C>T (p.Ser468=) rs775051175 0.00001
NM_032776.3(JMJD1C):c.1500A>G (p.Val500=) rs375523280 0.00001
NM_032776.3(JMJD1C):c.1575C>T (p.Asn525=) rs771978909 0.00001
NM_032776.3(JMJD1C):c.1617T>C (p.Pro539=) rs1192435231 0.00001
NM_032776.3(JMJD1C):c.1950T>C (p.Thr650=) rs1362411291 0.00001
NM_032776.3(JMJD1C):c.1968A>G (p.Val656=) rs767533800 0.00001
NM_032776.3(JMJD1C):c.2355T>G (p.Gly785=) rs751979712 0.00001
NM_032776.3(JMJD1C):c.2370T>C (p.Val790=) rs1166585010 0.00001
NM_032776.3(JMJD1C):c.2445A>G (p.Leu815=) rs748292789 0.00001
NM_032776.3(JMJD1C):c.2499A>G (p.Gln833=) rs1847632833 0.00001
NM_032776.3(JMJD1C):c.2520G>A (p.Gln840=) rs753409956 0.00001
NM_032776.3(JMJD1C):c.3027G>A (p.Gln1009=) rs1191109718 0.00001
NM_032776.3(JMJD1C):c.3237A>G (p.Lys1079=) rs752100624 0.00001
NM_032776.3(JMJD1C):c.331T>C (p.Leu111=) rs953345838 0.00001
NM_032776.3(JMJD1C):c.3375C>T (p.Ala1125=) rs753417322 0.00001
NM_032776.3(JMJD1C):c.3528A>G (p.Val1176=) rs1338457130 0.00001
NM_032776.3(JMJD1C):c.3621A>G (p.Pro1207=) rs762973842 0.00001
NM_032776.3(JMJD1C):c.3681T>C (p.Leu1227=) rs746245595 0.00001
NM_032776.3(JMJD1C):c.3699T>C (p.Thr1233=) rs547928999 0.00001
NM_032776.3(JMJD1C):c.372A>T (p.Ser124=) rs138979462 0.00001
NM_032776.3(JMJD1C):c.3771A>C (p.Pro1257=) rs758339158 0.00001
NM_032776.3(JMJD1C):c.3819G>A (p.Thr1273=) rs917044261 0.00001
NM_032776.3(JMJD1C):c.4044C>T (p.Ala1348=) rs762369149 0.00001
NM_032776.3(JMJD1C):c.405A>G (p.Gln135=) rs757185251 0.00001
NM_032776.3(JMJD1C):c.4170G>A (p.Thr1390=) rs761026917 0.00001
NM_032776.3(JMJD1C):c.4194A>G (p.Val1398=) rs1222236814 0.00001
NM_032776.3(JMJD1C):c.4299A>G (p.Val1433=) rs762447170 0.00001
NM_032776.3(JMJD1C):c.4488T>C (p.Ser1496=) rs752100806 0.00001
NM_032776.3(JMJD1C):c.4506T>C (p.Thr1502=) rs761401207 0.00001
NM_032776.3(JMJD1C):c.450C>T (p.Asp150=) rs745506808 0.00001
NM_032776.3(JMJD1C):c.4569C>A (p.Ile1523=) rs190438301 0.00001
NM_032776.3(JMJD1C):c.4648C>T (p.Leu1550=) rs1249369239 0.00001
NM_032776.3(JMJD1C):c.477C>T (p.Leu159=) rs777623084 0.00001
NM_032776.3(JMJD1C):c.4791T>C (p.Ser1597=) rs753924601 0.00001
NM_032776.3(JMJD1C):c.4821T>C (p.Tyr1607=) rs577263592 0.00001
NM_032776.3(JMJD1C):c.4893A>G (p.Ser1631=) rs978953712 0.00001
NM_032776.3(JMJD1C):c.5075-10G>A rs781064752 0.00001
NM_032776.3(JMJD1C):c.5091A>G (p.Ser1697=) rs374794763 0.00001
NM_032776.3(JMJD1C):c.5169G>A (p.Glu1723=) rs1434473180 0.00001
NM_032776.3(JMJD1C):c.5196A>C (p.Arg1732=) rs1396013090 0.00001
NM_032776.3(JMJD1C):c.5268C>T (p.Tyr1756=) rs747051989 0.00001
NM_032776.3(JMJD1C):c.5460A>G (p.Glu1820=) rs759321451 0.00001
NM_032776.3(JMJD1C):c.5492-7A>G rs778218913 0.00001
NM_032776.3(JMJD1C):c.554-15T>C rs914735026 0.00001
NM_032776.3(JMJD1C):c.5577C>T (p.Val1859=) rs1845584584 0.00001
NM_032776.3(JMJD1C):c.5734+13T>G rs1330261561 0.00001
NM_032776.3(JMJD1C):c.5734+9A>G rs762282212 0.00001
NM_032776.3(JMJD1C):c.5735-4G>A rs752659477 0.00001
NM_032776.3(JMJD1C):c.5775A>G (p.Glu1925=) rs1295225795 0.00001
NM_032776.3(JMJD1C):c.5835T>C (p.Asn1945=) rs772405867 0.00001
NM_032776.3(JMJD1C):c.594A>G (p.Arg198=) rs758501752 0.00001
NM_032776.3(JMJD1C):c.6054A>G (p.Gln2018=) rs755368944 0.00001
NM_032776.3(JMJD1C):c.6093C>T (p.Thr2031=) rs775487533 0.00001
NM_032776.3(JMJD1C):c.6104A>C (p.Gln2035Pro) rs190194717 0.00001
NM_032776.3(JMJD1C):c.6234T>A (p.Arg2078=) rs905897779 0.00001
NM_032776.3(JMJD1C):c.6285A>T (p.Gly2095=) rs377626799 0.00001
NM_032776.3(JMJD1C):c.6378C>T (p.Thr2126=) rs1161779692 0.00001
NM_032776.3(JMJD1C):c.6627A>G (p.Glu2209=) rs757110706 0.00001
NM_032776.3(JMJD1C):c.66G>A (p.Glu22=) rs766418169 0.00001
NM_032776.3(JMJD1C):c.678+15T>C rs370772472 0.00001
NM_032776.3(JMJD1C):c.6962-20A>C rs1354865945 0.00001
NM_032776.3(JMJD1C):c.7254A>G (p.Leu2418=) rs753964728 0.00001
NM_032776.3(JMJD1C):c.7359C>T (p.Phe2453=) rs1337629053 0.00001
NM_032776.3(JMJD1C):c.7533+17C>T rs751861560 0.00001
NM_032776.3(JMJD1C):c.813C>T (p.Asn271=) rs761545891 0.00001
NM_032776.3(JMJD1C):c.897T>C (p.Asn299=) rs367929683 0.00001
NM_032776.3(JMJD1C):c.987G>A (p.Glu329=) rs1189516728 0.00001
NM_139058.3(ARX):c.1027C>T (p.Leu343=) rs370974597 0.00001
NM_139058.3(ARX):c.1073+19C>T rs2048708046 0.00001
NM_139058.3(ARX):c.1073+9G>C rs779717915 0.00001
NM_139058.3(ARX):c.1182C>T (p.His394=) rs950461742 0.00001
NM_139058.3(ARX):c.1194G>T (p.Leu398=) rs1211813471 0.00001
NM_139058.3(ARX):c.1233C>T (p.Ser411=) rs1275814443 0.00001
NM_139058.3(ARX):c.124C>A (p.Arg42=) rs866153168 0.00001
NM_139058.3(ARX):c.1257C>T (p.Phe419=) rs1248729100 0.00001
NM_139058.3(ARX):c.1284C>T (p.Ser428=) rs1202135194 0.00001
NM_139058.3(ARX):c.137C>A (p.Ala46Asp) rs753049882 0.00001
NM_139058.3(ARX):c.1404G>T (p.Ala468=) rs794727657 0.00001
NM_139058.3(ARX):c.1448+9C>A rs759009252 0.00001
NM_139058.3(ARX):c.1542G>A (p.Ser514=) rs1240255602 0.00001
NM_139058.3(ARX):c.1572C>T (p.Ala524=) rs1601945631 0.00001
NM_139058.3(ARX):c.1605G>C (p.Leu535=) rs1480681695 0.00001
NM_139058.3(ARX):c.179C>G (p.Pro60Arg) rs1335616654 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.241C>T (p.Leu81=) rs1601948822 0.00001
NM_139058.3(ARX):c.318G>C (p.Ala106=) rs997762920 0.00001
NM_139058.3(ARX):c.330G>C (p.Ala110=) rs1416343691 0.00001
NM_139058.3(ARX):c.351C>A (p.Ala117=) rs1313243538 0.00001
NM_139058.3(ARX):c.372G>A (p.Glu124=) rs1006764242 0.00001
NM_139058.3(ARX):c.543C>T (p.Pro181=) rs587780854 0.00001
NM_139058.3(ARX):c.611G>A (p.Arg204His) rs755745002 0.00001
NM_139058.3(ARX):c.639C>T (p.Ser213=) rs2048710797 0.00001
NM_139058.3(ARX):c.657T>C (p.Gly219=) rs755317735 0.00001
NM_139058.3(ARX):c.678C>T (p.Asp226=) rs764730866 0.00001
NM_139058.3(ARX):c.770G>C (p.Arg257Pro) rs1239494313 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_139058.3(ARX):c.825C>T (p.Ala275=) rs922800521 0.00001
NM_139058.3(ARX):c.837C>G (p.Ala279=) rs1190644757 0.00001
NM_139058.3(ARX):c.840T>C (p.Ala280=) rs936582415 0.00001
NM_139058.3(ARX):c.873C>G (p.Pro291=) rs1359275622 0.00001
NM_139058.3(ARX):c.8A>G (p.Asn3Ser) rs771031915 0.00001
NM_152309.3(PIK3AP1):c.1014C>A (p.Thr338=) rs374819025 0.00001
NM_152309.3(PIK3AP1):c.1162C>A (p.Arg388=) rs1291249415 0.00001
NM_152309.3(PIK3AP1):c.1257C>T (p.Tyr419=) rs776232557 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.1545G>A (p.Thr515=) rs375373941 0.00001
NM_152309.3(PIK3AP1):c.1590C>A (p.Pro530=) rs1363813166 0.00001
NM_152309.3(PIK3AP1):c.1920G>A (p.Ser640=) rs200684467 0.00001
NM_152309.3(PIK3AP1):c.1942-10T>C rs767405565 0.00001
NM_152309.3(PIK3AP1):c.2073T>C (p.Phe691=) rs766208052 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.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.2367G>A (p.Pro789=) rs776649790 0.00001
NM_152309.3(PIK3AP1):c.507G>C (p.Leu169=) rs1227973829 0.00001
NM_152309.3(PIK3AP1):c.512C>T (p.Thr171Met) rs567912958 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.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.951T>C (p.Phe317=) rs1332271762 0.00001
NM_173354.5(SIK1):c.114C>T (p.Phe38=) rs1359524179 0.00001
NM_173354.5(SIK1):c.1173G>A (p.Pro391=) rs751767557 0.00001
NM_173354.5(SIK1):c.1200C>T (p.Val400=) rs1417285211 0.00001
NM_173354.5(SIK1):c.1236G>A (p.Ser412=) rs374850060 0.00001
NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu) rs1451348781 0.00001
NM_173354.5(SIK1):c.1395C>T (p.Pro465=) rs1260406479 0.00001
NM_173354.5(SIK1):c.1518C>T (p.Asp506=) rs151161967 0.00001
NM_173354.5(SIK1):c.1551C>T (p.Pro517=) rs774252516 0.00001
NM_173354.5(SIK1):c.1620G>A (p.Ser540=) rs746537219 0.00001
NM_173354.5(SIK1):c.1722G>A (p.Ala574=) rs756498556 0.00001
NM_173354.5(SIK1):c.2139C>T (p.Leu713=) rs1250236920 0.00001
NM_173354.5(SIK1):c.2202T>C (p.Ile734=) rs368699653 0.00001
NM_173354.5(SIK1):c.345G>A (p.Leu115=) rs775279592 0.00001
NM_173354.5(SIK1):c.354C>T (p.Asn118=) rs769373966 0.00001
NM_173354.5(SIK1):c.372C>T (p.Asn124=) rs776158971 0.00001
NM_173354.5(SIK1):c.396A>G (p.Gln132=) rs139121264 0.00001
NM_173354.5(SIK1):c.405G>A (p.Ser135=) rs756318531 0.00001
NM_173354.5(SIK1):c.423C>T (p.His141=) rs757318904 0.00001
NM_173354.5(SIK1):c.500-18T>G rs544724581 0.00001
NM_173354.5(SIK1):c.624+13T>C rs374653662 0.00001
NM_173354.5(SIK1):c.625-5A>G rs751277878 0.00001
NM_173354.5(SIK1):c.627C>T (p.Ser209=) rs200883333 0.00001
NM_173354.5(SIK1):c.672C>T (p.Phe224=) rs774674384 0.00001
NM_198904.4(GABRG2):c.*797G>T rs118064447 0.00001
NM_198904.4(GABRG2):c.1014T>C (p.Phe338=) rs1057521488 0.00001
NM_198904.4(GABRG2):c.107+10G>A rs369898285 0.00001
NM_198904.4(GABRG2):c.1110T>C (p.Asp370=) rs201824364 0.00001
NM_198904.4(GABRG2):c.1128+14T>C rs779125212 0.00001
NM_198904.4(GABRG2):c.1128+9C>T rs771223451 0.00001
NM_198904.4(GABRG2):c.1158T>C (p.Pro386=) rs1406802023 0.00001
NM_198904.4(GABRG2):c.1170C>A (p.Ile390=) rs1312081444 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1182A>G (p.Ser394=) rs1458041410 0.00001
NM_198904.4(GABRG2):c.1195A>G (p.Met399Val) rs753097258 0.00001
NM_198904.4(GABRG2):c.1284T>C (p.Cys428=) rs141138508 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.1413C>T (p.Ser471=) rs765926862 0.00001
NM_198904.4(GABRG2):c.260-14G>A rs1266683191 0.00001
NM_198904.4(GABRG2):c.270G>A (p.Thr90=) rs758084555 0.00001
NM_198904.4(GABRG2):c.333C>T (p.Tyr111=) rs777192588 0.00001
NM_198904.4(GABRG2):c.375T>A (p.Arg125=) rs767423340 0.00001
NM_198904.4(GABRG2):c.420C>T (p.Asn140=) rs1581350860 0.00001
NM_198904.4(GABRG2):c.505A>T (p.Met169Leu) rs1369739056 0.00001
NM_198904.4(GABRG2):c.525T>C (p.Asp175=) rs770485021 0.00001
NM_198904.4(GABRG2):c.552G>A (p.Leu184=) rs758574181 0.00001
NM_198904.4(GABRG2):c.75G>A (p.Val25=) rs1452669998 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_198904.4(GABRG2):c.769+12T>G rs1761627675 0.00001
NM_198904.4(GABRG2):c.770-7G>A rs751069405 0.00001
NM_198904.4(GABRG2):c.780G>A (p.Val260=) rs1426450541 0.00001
NM_198904.4(GABRG2):c.789T>G (p.Ser263=) rs754514348 0.00001
NM_198904.4(GABRG2):c.79A>G (p.Ile27Val) rs766990192 0.00001
NM_198904.4(GABRG2):c.808A>C (p.Arg270=) rs796052520 0.00001
NM_198904.4(GABRG2):c.987C>A (p.Val329=) rs774964109 0.00001
NM_198904.4(GABRG2):c.99C>T (p.Leu33=) rs368162707 0.00001
NC_000015.10:g.26773704C>T rs1060504683
NC_000016.9:g.(?_10273835)_(10274268_?)dup
NC_000016.9:g.(?_10273845)_(10274268_?)dup
NC_000023.11:g.18645998A>G
NC_000023.11:g.18646086A>G
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.18650457G>A
NC_000023.11:g.18650461C>T rs2147197730
NC_000023.11:g.18650489C>T
NC_000023.11:g.18653421G>C
NC_000023.11:g.18653452C>G rs376960593
NC_000023.11:g.18653502G>C
NC_000023.11:g.18653508G>C
NC_000023.11:g.18653536G>A
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000702.4(ATP1A2):c.2284+44G>A rs1651914525
NM_000702.4(ATP1A2):c.2284+62T>A rs1651915554
NM_000811.3(GABRA6):c.507T>C (p.Ala169=) rs1400096249
NM_000811.3(GABRA6):c.663A>G (p.Lys221=) rs200968260
NM_000814.6(GABRB3):c.1005C>G (p.Gly335=) rs74907974
NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln) rs761102474
NM_000814.6(GABRB3):c.1080+14_1080+15inv
NM_000814.6(GABRB3):c.1080+7T>C
NM_000814.6(GABRB3):c.1081-10G>T
NM_000814.6(GABRB3):c.1086T>C (p.Asp362=)
NM_000814.6(GABRB3):c.1101T>A (p.Ile367=) rs2140645991
NM_000814.6(GABRB3):c.1116G>T (p.Leu372=)
NM_000814.6(GABRB3):c.1140G>A (p.Glu380=)
NM_000814.6(GABRB3):c.1146A>G (p.Ser382=) rs2140645804
NM_000814.6(GABRB3):c.1167G>A (p.Arg389=)
NM_000814.6(GABRB3):c.1177A>G (p.Ile393Val)
NM_000814.6(GABRB3):c.1185T>C (p.Phe395=)
NM_000814.6(GABRB3):c.1194A>T (p.Ser398=)
NM_000814.6(GABRB3):c.1245C>T (p.Phe415=)
NM_000814.6(GABRB3):c.1248G>C (p.Leu416=)
NM_000814.6(GABRB3):c.1296T>C (p.Ser432=)
NM_000814.6(GABRB3):c.1305C>G (p.Leu435=)
NM_000814.6(GABRB3):c.1320T>C (p.Pro440=)
NM_000814.6(GABRB3):c.1332T>C (p.Asp444=)
NM_000814.6(GABRB3):c.1344A>C (p.Ile448=)
NM_000814.6(GABRB3):c.1350A>G (p.Arg450=)
NM_000814.6(GABRB3):c.1410C>T (p.Tyr470=)
NM_000814.6(GABRB3):c.144C>T (p.Tyr48=) rs868652432
NM_000814.6(GABRB3):c.154C>T (p.Leu52=) rs1057524415
NM_000814.6(GABRB3):c.156A>G (p.Leu52=)
NM_000814.6(GABRB3):c.15G>A (p.Ala5=)
NM_000814.6(GABRB3):c.15G>C (p.Ala5=)
NM_000814.6(GABRB3):c.172+18G>A
NM_000814.6(GABRB3):c.172+19G>A
NM_000814.6(GABRB3):c.172+7G>C rs1207655554
NM_000814.6(GABRB3):c.172+9G>C
NM_000814.6(GABRB3):c.173-10C>T
NM_000814.6(GABRB3):c.173-15C>T rs760478130
NM_000814.6(GABRB3):c.173-18G>A
NM_000814.6(GABRB3):c.173-4G>T
NM_000814.6(GABRB3):c.173-7C>G
NM_000814.6(GABRB3):c.192G>C (p.Gly64=) rs1215093816
NM_000814.6(GABRB3):c.201C>T (p.Ile67=)
NM_000814.6(GABRB3):c.207C>A (p.Ile69=) rs770214111
NM_000814.6(GABRB3):c.219C>T (p.Asp73=)
NM_000814.6(GABRB3):c.228C>T (p.Ser76=)
NM_000814.6(GABRB3):c.240+10C>T
NM_000814.6(GABRB3):c.240+12_240+13delinsGT rs2140199003
NM_000814.6(GABRB3):c.240+13C>A
NM_000814.6(GABRB3):c.240+18C>T
NM_000814.6(GABRB3):c.240+19A>G
NM_000814.6(GABRB3):c.240+7G>T
NM_000814.6(GABRB3):c.241-12T>C rs546175770
NM_000814.6(GABRB3):c.241-18C>G
NM_000814.6(GABRB3):c.241-7C>T rs1595490139
NM_000814.6(GABRB3):c.270A>G (p.Gln90=)
NM_000814.6(GABRB3):c.273T>C (p.Tyr91=)
NM_000814.6(GABRB3):c.300T>C (p.Ser100=) rs975508044
NM_000814.6(GABRB3):c.303G>A (p.Gly101=)
NM_000814.6(GABRB3):c.366T>C (p.Tyr122=)
NM_000814.6(GABRB3):c.36C>T (p.Ile12=) rs1049486764
NM_000814.6(GABRB3):c.381A>G (p.Lys127=) rs754026886
NM_000814.6(GABRB3):c.387A>G (p.Ser129=)
NM_000814.6(GABRB3):c.42G>C (p.Ser14=)
NM_000814.6(GABRB3):c.456G>A (p.Gly152=)
NM_000814.6(GABRB3):c.459C>T (p.Leu153=) rs2140536698
NM_000814.6(GABRB3):c.461+17A>G
NM_000814.6(GABRB3):c.461+19G>A
NM_000814.6(GABRB3):c.462-13C>T
NM_000814.6(GABRB3):c.462-14C>T rs1034382308
NM_000814.6(GABRB3):c.462-16A>G
NM_000814.6(GABRB3):c.462-7A>G rs1404162429
NM_000814.6(GABRB3):c.48G>A (p.Pro16=)
NM_000814.6(GABRB3):c.498G>A (p.Arg166=)
NM_000814.6(GABRB3):c.507C>A (p.Pro169=)
NM_000814.6(GABRB3):c.544+10C>T rs372692704
NM_000814.6(GABRB3):c.544+11G>A
NM_000814.6(GABRB3):c.544+12T>C
NM_000814.6(GABRB3):c.544+14T>G
NM_000814.6(GABRB3):c.570G>A (p.Glu190=) rs2140730701
NM_000814.6(GABRB3):c.594G>A (p.Lys198=) rs1381956789
NM_000814.6(GABRB3):c.600T>C (p.Val200=) rs1595456673
NM_000814.6(GABRB3):c.609G>A (p.Val203=)
NM_000814.6(GABRB3):c.621G>A (p.Glu207=)
NM_000814.6(GABRB3):c.645G>A (p.Glu215=)
NM_000814.6(GABRB3):c.662G>A (p.Arg221Lys)
NM_000814.6(GABRB3):c.666T>C (p.Asn222=)
NM_000814.6(GABRB3):c.682+7C>T rs2140730250
NM_000814.6(GABRB3):c.683-10T>G
NM_000814.6(GABRB3):c.683-11G>T
NM_000814.6(GABRB3):c.683-12T>C
NM_000814.6(GABRB3):c.683-14T>C
NM_000814.6(GABRB3):c.683-29_683-18del
NM_000814.6(GABRB3):c.683-7C>T
NM_000814.6(GABRB3):c.683-9_683-8del rs1890232405
NM_000814.6(GABRB3):c.732A>C (p.Gly244=) rs1890229760
NM_000814.6(GABRB3):c.735C>T (p.Tyr245=)
NM_000814.6(GABRB3):c.73G>A (p.Ala25Thr) rs1448726231
NM_000814.6(GABRB3):c.80+10C>G rs2140199945
NM_000814.6(GABRB3):c.80+11G>T
NM_000814.6(GABRB3):c.80+7T>C
NM_000814.6(GABRB3):c.80+8C>A
NM_000814.6(GABRB3):c.804T>C (p.Asn268=)
NM_000814.6(GABRB3):c.81-15C>G
NM_000814.6(GABRB3):c.81-16C>G
NM_000814.6(GABRB3):c.81-19C>T
NM_000814.6(GABRB3):c.81-5C>G rs201579427
NM_000814.6(GABRB3):c.81-7C>T
NM_000814.6(GABRB3):c.835+16A>G
NM_000814.6(GABRB3):c.835+20G>A
NM_000814.6(GABRB3):c.835+7G>C
NM_000814.6(GABRB3):c.836-10T>C rs1595440495
NM_000814.6(GABRB3):c.836-19del rs779616935
NM_000814.6(GABRB3):c.885G>A (p.Glu295=) rs749704431
NM_000814.6(GABRB3):c.915C>T (p.Ala305=) rs1889965667
NM_000814.6(GABRB3):c.93C>T (p.Pro31=)
NM_000814.6(GABRB3):c.99C>T (p.Asn33=)
NM_000814.6(GABRB3):c.9C>G (p.Gly3=)
NM_000834.5(GRIN2B):c.1010+10G>T rs1435186399
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.1011-20C>A
NM_000834.5(GRIN2B):c.1011-20C>T
NM_000834.5(GRIN2B):c.1038G>A (p.Gly346=) rs753955843
NM_000834.5(GRIN2B):c.1047G>A (p.Leu349=)
NM_000834.5(GRIN2B):c.1053C>T (p.Phe351=)
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.1125+12C>T
NM_000834.5(GRIN2B):c.1125+6_1125+10dup rs760029228
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.1126-7del 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.1167T>C (p.Tyr389=) rs2136481440
NM_000834.5(GRIN2B):c.123C>T (p.Leu41=) rs2136747318
NM_000834.5(GRIN2B):c.1245A>G (p.Pro415=)
NM_000834.5(GRIN2B):c.1266G>A (p.Val422=)
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.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.1332T>C (p.Asn444=)
NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=)
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.1479C>A (p.Thr493=) rs202139349
NM_000834.5(GRIN2B):c.1500+10CA[4]
NM_000834.5(GRIN2B):c.1501-15G>A
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.1560G>C (p.Ser520=)
NM_000834.5(GRIN2B):c.1581G>A (p.Val527=) rs2136479424
NM_000834.5(GRIN2B):c.1596A>C (p.Thr532=)
NM_000834.5(GRIN2B):c.1596A>G (p.Thr532=) rs1253357396
NM_000834.5(GRIN2B):c.15G>T (p.Ala5=) rs34315573
NM_000834.5(GRIN2B):c.1608C>T (p.Val536=)
NM_000834.5(GRIN2B):c.1629G>A (p.Gly543=) rs199517784
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+9T>C
NM_000834.5(GRIN2B):c.1655-14T>C
NM_000834.5(GRIN2B):c.1655-18C>T rs2136474744
NM_000834.5(GRIN2B):c.1655-9C>A
NM_000834.5(GRIN2B):c.1659A>C (p.Pro553=)
NM_000834.5(GRIN2B):c.1674A>G (p.Val558=) rs1949369008
NM_000834.5(GRIN2B):c.1701C>T (p.Leu567=)
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr) rs199801114
NM_000834.5(GRIN2B):c.174T>C (p.Asp58=) rs1555149549
NM_000834.5(GRIN2B):c.1758C>T (p.Asn586=)
NM_000834.5(GRIN2B):c.1773T>C (p.Asp591=)
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.1797T>A (p.Ser599=) rs2136470570
NM_000834.5(GRIN2B):c.180C>T (p.His60=)
NM_000834.5(GRIN2B):c.1824G>A (p.Leu608=) rs1949321963
NM_000834.5(GRIN2B):c.1836G>A (p.Leu612=)
NM_000834.5(GRIN2B):c.1839G>C (p.Val613=)
NM_000834.5(GRIN2B):c.1866C>T (p.Asn622=) rs1949321214
NM_000834.5(GRIN2B):c.1878C>A (p.Thr626=) rs1555110827
NM_000834.5(GRIN2B):c.1896G>A (p.Val632=)
NM_000834.5(GRIN2B):c.1902G>A (p.Val634=) rs2136470347
NM_000834.5(GRIN2B):c.1908C>T (p.Ala636=)
NM_000834.5(GRIN2B):c.1932C>G (p.Ala644=)
NM_000834.5(GRIN2B):c.1944C>T (p.Ala648=) rs1591638714
NM_000834.5(GRIN2B):c.1965C>A (p.Ile655=)
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.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.2040T>C (p.Pro680=) rs1948713794
NM_000834.5(GRIN2B):c.2064C>T (p.Asn688=)
NM_000834.5(GRIN2B):c.2109T>C (p.His703=)
NM_000834.5(GRIN2B):c.2121A>C (p.Gly707=)
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.2151A>G (p.Ala717=) rs2136415645
NM_000834.5(GRIN2B):c.2152T>C (p.Leu718=) rs1340071049
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+9T>C
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.2181T>C (p.Asp727=)
NM_000834.5(GRIN2B):c.2184C>T (p.Ala728=)
NM_000834.5(GRIN2B):c.2202A>C (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.2242C>T (p.Leu748=)
NM_000834.5(GRIN2B):c.228C>A (p.Thr76=) rs77299791
NM_000834.5(GRIN2B):c.2301A>G (p.Gln767=)
NM_000834.5(GRIN2B):c.2319G>A (p.Lys773=)
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.2360-9_2360-4del rs770518465
NM_000834.5(GRIN2B):c.2385C>G (p.Leu795=)
NM_000834.5(GRIN2B):c.2393C>G (p.Thr798Ser) rs1948652982
NM_000834.5(GRIN2B):c.2430C>T (p.Ser810=) rs864309560
NM_000834.5(GRIN2B):c.246C>A (p.Ile82=)
NM_000834.5(GRIN2B):c.246C>T (p.Ile82=) rs1865820376
NM_000834.5(GRIN2B):c.2479G>A (p.Ala827Thr) rs2136409718
NM_000834.5(GRIN2B):c.2517A>G (p.Glu839=)
NM_000834.5(GRIN2B):c.2550T>C (p.Phe850=) rs1591608921
NM_000834.5(GRIN2B):c.2598+14T>C
NM_000834.5(GRIN2B):c.2598+6T>C rs773452060
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.2625G>T (p.Val875=) rs1325073683
NM_000834.5(GRIN2B):c.2628G>C (p.Ala876=)
NM_000834.5(GRIN2B):c.2631C>A (p.Ile877=) rs1156368940
NM_000834.5(GRIN2B):c.2646T>C (p.Ser882=)
NM_000834.5(GRIN2B):c.264C>T (p.Leu88=)
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.2685C>T (p.His895=) rs549839161
NM_000834.5(GRIN2B):c.2708G>A (p.Arg903His) rs1555102571
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.2748C>T (p.Gly916=) rs1948608745
NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala) rs2136406174
NM_000834.5(GRIN2B):c.2750C>T (p.Ser917Leu) rs1555102552
NM_000834.5(GRIN2B):c.2761G>C (p.Ala921Pro) rs1313881938
NM_000834.5(GRIN2B):c.2779C>A (p.Arg927=)
NM_000834.5(GRIN2B):c.2790C>T (p.Ser930=)
NM_000834.5(GRIN2B):c.2796T>C (p.Tyr932=) rs2136406080
NM_000834.5(GRIN2B):c.2826G>T (p.Thr942=) rs140573925
NM_000834.5(GRIN2B):c.2835C>T (p.Asp945=)
NM_000834.5(GRIN2B):c.2856G>A (p.Pro952=) rs547507161
NM_000834.5(GRIN2B):c.2865G>A (p.Glu955=) rs1279558402
NM_000834.5(GRIN2B):c.2877C>T (p.Phe959=)
NM_000834.5(GRIN2B):c.2889C>T (p.Ile963=)
NM_000834.5(GRIN2B):c.2897T>A (p.Val966Glu)
NM_000834.5(GRIN2B):c.2913G>C (p.Gly971=) rs200696950
NM_000834.5(GRIN2B):c.2919G>A (p.Leu973=)
NM_000834.5(GRIN2B):c.291G>T (p.Val97=)
NM_000834.5(GRIN2B):c.2946A>G (p.Gln982=)
NM_000834.5(GRIN2B):c.2979T>C (p.Ser993=)
NM_000834.5(GRIN2B):c.3006G>A (p.Gly1002=)
NM_000834.5(GRIN2B):c.3009C>G (p.Leu1003=) rs1460313772
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.3054C>T (p.Ile1018=) rs2136405540
NM_000834.5(GRIN2B):c.3075C>T (p.Ile1025=)
NM_000834.5(GRIN2B):c.3078C>T (p.Gly1026=) rs1555102406
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.3096C>T (p.His1032=)
NM_000834.5(GRIN2B):c.3114G>C (p.Leu1038=)
NM_000834.5(GRIN2B):c.3120C>T (p.Gly1040=)
NM_000834.5(GRIN2B):c.3146A>G (p.Tyr1049Cys) rs201866998
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.3231C>A (p.Ala1077=)
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.3275G>A (p.Arg1092Gln) rs1555102321
NM_000834.5(GRIN2B):c.3296G>A (p.Arg1099His) rs1411402744
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.3339G>A (p.Pro1113=) rs200660626
NM_000834.5(GRIN2B):c.3339G>T (p.Pro1113=) rs200660626
NM_000834.5(GRIN2B):c.3343C>A (p.Arg1115Ser) rs370908319
NM_000834.5(GRIN2B):c.336C>T (p.Leu112=) rs1060504845
NM_000834.5(GRIN2B):c.3393C>T (p.Asp1131=)
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.3459C>T (p.Asp1153=)
NM_000834.5(GRIN2B):c.3486T>C (p.Phe1162=) rs202120141
NM_000834.5(GRIN2B):c.348A>C (p.Ser116=)
NM_000834.5(GRIN2B):c.3495C>T (p.Asp1165=)
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.3546G>A (p.Gly1182=)
NM_000834.5(GRIN2B):c.3561C>T (p.His1187=) rs1300574984
NM_000834.5(GRIN2B):c.3564C>T (p.Gly1188=)
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.3627G>A (p.Arg1209=) rs149089581
NM_000834.5(GRIN2B):c.3630C>T (p.Ser1210=)
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.366C>A (p.Pro122=) rs7301328
NM_000834.5(GRIN2B):c.3678C>A (p.Ser1226=) rs199529555
NM_000834.5(GRIN2B):c.3690G>C (p.Thr1230=) rs200609066
NM_000834.5(GRIN2B):c.3702G>A (p.Ser1234=) rs753797364
NM_000834.5(GRIN2B):c.3714G>A (p.Ala1238=)
NM_000834.5(GRIN2B):c.3717C>T (p.Cys1239=)
NM_000834.5(GRIN2B):c.3723G>T (p.Arg1241=)
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.3796C>T (p.Pro1266Ser) rs199935748
NM_000834.5(GRIN2B):c.3798G>T (p.Pro1266=) rs754079938
NM_000834.5(GRIN2B):c.3807A>G (p.Pro1269=) rs78765966
NM_000834.5(GRIN2B):c.3819G>A (p.Thr1273=) rs1555101910
NM_000834.5(GRIN2B):c.3825C>T (p.Asn1275=) rs200571186
NM_000834.5(GRIN2B):c.384G>C (p.Gly128=) rs2136746889
NM_000834.5(GRIN2B):c.3873G>A (p.Gln1291=)
NM_000834.5(GRIN2B):c.3883C>A (p.Arg1295=)
NM_000834.5(GRIN2B):c.3912C>T (p.Tyr1304=) rs1407009840
NM_000834.5(GRIN2B):c.3920T>C (p.Phe1307Ser) rs1948575540
NM_000834.5(GRIN2B):c.393T>C (p.Ser131=) rs1591774189
NM_000834.5(GRIN2B):c.3948C>T (p.Ala1316=) rs1948574967
NM_000834.5(GRIN2B):c.3951G>C (p.Leu1317=)
NM_000834.5(GRIN2B):c.3963C>T (p.Ser1321=)
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.3990C>T (p.Phe1330=) rs1225505219
NM_000834.5(GRIN2B):c.4023G>A (p.Glu1341=)
NM_000834.5(GRIN2B):c.4038G>A (p.Glu1346=) rs201214704
NM_000834.5(GRIN2B):c.4050CAA[2] (p.Asn1352del) rs761812510
NM_000834.5(GRIN2B):c.4053C>T (p.Asn1351=)
NM_000834.5(GRIN2B):c.4071C>T (p.Pro1357=) rs2136403023
NM_000834.5(GRIN2B):c.4084CAC[2] (p.His1364del) rs1214837315
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.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.412-15C>G rs1293031702
NM_000834.5(GRIN2B):c.412-5del rs1591712751
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.4209C>G (p.Ser1403=)
NM_000834.5(GRIN2B):c.4230G>C (p.Thr1410=) rs149655315
NM_000834.5(GRIN2B):c.4236G>A (p.Ala1412=)
NM_000834.5(GRIN2B):c.423C>T (p.Ser141=) rs745829995
NM_000834.5(GRIN2B):c.4245G>T (p.Ser1415=) rs150956675
NM_000834.5(GRIN2B):c.4254G>A (p.Arg1418=)
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.4296G>A (p.Ser1432=) rs755880051
NM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=)
NM_000834.5(GRIN2B):c.429C>T (p.Phe143=) rs868689428
NM_000834.5(GRIN2B):c.4305T>C (p.His1435=)
NM_000834.5(GRIN2B):c.4309_4310delinsAT (p.Ala1437Ile) rs1591604894
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>T (p.Phe1442=)
NM_000834.5(GRIN2B):c.4329G>A (p.Gln1443=)
NM_000834.5(GRIN2B):c.4385C>A (p.Pro1462His)
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.444A>G (p.Pro148=) rs200658883
NM_000834.5(GRIN2B):c.465C>T (p.Ser155=) rs115189840
NM_000834.5(GRIN2B):c.495C>T (p.Asp165=)
NM_000834.5(GRIN2B):c.501C>T (p.Tyr167=)
NM_000834.5(GRIN2B):c.537C>T (p.Tyr179=)
NM_000834.5(GRIN2B):c.573G>A (p.Glu191=)
NM_000834.5(GRIN2B):c.588C>G (p.Gly196=)
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.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.675C>T (p.Ser225=)
NM_000834.5(GRIN2B):c.681C>T (p.Ile227=)
NM_000834.5(GRIN2B):c.711C>T (p.Ala237=)
NM_000834.5(GRIN2B):c.72C>T (p.Ser24=)
NM_000834.5(GRIN2B):c.741A>G (p.Val247=) rs2136629162
NM_000834.5(GRIN2B):c.764C>T (p.Thr255Met) rs748054907
NM_000834.5(GRIN2B):c.807G>A (p.Val269=) rs61754644
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.843A>G (p.Ser281=) rs201585449
NM_000834.5(GRIN2B):c.846T>C (p.Tyr282=) rs1208230861
NM_000834.5(GRIN2B):c.861T>C (p.Tyr287=)
NM_000834.5(GRIN2B):c.876A>G (p.Arg292=) rs876661173
NM_000834.5(GRIN2B):c.90G>A (p.Lys30=)
NM_000834.5(GRIN2B):c.920T>G (p.Met307Arg) rs2136628922
NM_000834.5(GRIN2B):c.942C>T (p.Ile314=) rs1476421998
NM_000834.5(GRIN2B):c.951C>T (p.Pro317=) rs1410392494
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.981G>A (p.Lys327=) rs1863519417
NM_001040142.2(SCN2A):c.1034+15C>T
NM_001040142.2(SCN2A):c.1035-13A>G
NM_001040142.2(SCN2A):c.1050A>T (p.Gly350=) rs1284650444
NM_001040142.2(SCN2A):c.1053C>T (p.Tyr351=) rs1574566686
NM_001040142.2(SCN2A):c.1071T>G (p.Gly357=) rs779499394
NM_001040142.2(SCN2A):c.108A>G (p.Arg36=) rs2106149149
NM_001040142.2(SCN2A):c.1113T>C (p.Ser371=) rs1438036303
NM_001040142.2(SCN2A):c.1167T>C (p.Leu389=) rs1186490705
NM_001040142.2(SCN2A):c.1174C>T (p.Leu392=)
NM_001040142.2(SCN2A):c.1176+11A>T
NM_001040142.2(SCN2A):c.1176+12T>C
NM_001040142.2(SCN2A):c.1176+13A>T
NM_001040142.2(SCN2A):c.1177-16C>T
NM_001040142.2(SCN2A):c.1180C>T (p.Leu394=)
NM_001040142.2(SCN2A):c.1200G>T (p.Thr400=) rs532681917
NM_001040142.2(SCN2A):c.1218G>A (p.Val406=)
NM_001040142.2(SCN2A):c.1224C>A (p.Val408=)
NM_001040142.2(SCN2A):c.1224C>T (p.Val408=)
NM_001040142.2(SCN2A):c.1227T>C (p.Ile409=) rs1559355886
NM_001040142.2(SCN2A):c.1231T>C (p.Leu411=)
NM_001040142.2(SCN2A):c.1251A>C (p.Ile417=) rs1290406159
NM_001040142.2(SCN2A):c.1281C>T (p.Ala427=) rs2105255954
NM_001040142.2(SCN2A):c.12A>G (p.Ser4=)
NM_001040142.2(SCN2A):c.1302C>T (p.Ala434=) rs1488671443
NM_001040142.2(SCN2A):c.1305A>G (p.Thr435=) rs1574567854
NM_001040142.2(SCN2A):c.1326G>A (p.Lys442=)
NM_001040142.2(SCN2A):c.1350C>T (p.Leu450=) rs750850028
NM_001040142.2(SCN2A):c.1383+7T>C rs2105256264
NM_001040142.2(SCN2A):c.1384-11C>T rs780656967
NM_001040142.2(SCN2A):c.1384-12G>T
NM_001040142.2(SCN2A):c.1384-15T>C
NM_001040142.2(SCN2A):c.1384-19A>G
NM_001040142.2(SCN2A):c.1384-7C>T rs1283931859
NM_001040142.2(SCN2A):c.1428T>A (p.Gly476=)
NM_001040142.2(SCN2A):c.1437G>A (p.Gly479=) rs940572077
NM_001040142.2(SCN2A):c.1445T>G (p.Val482Gly)
NM_001040142.2(SCN2A):c.147C>T (p.Gly49=)
NM_001040142.2(SCN2A):c.1485C>T (p.Ser495=) rs756904745
NM_001040142.2(SCN2A):c.1524G>A (p.Lys508=) rs2105259852
NM_001040142.2(SCN2A):c.1533A>G (p.Lys511=) rs2105259899
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His) rs1574572514
NM_001040142.2(SCN2A):c.159C>T (p.Asn53=)
NM_001040142.2(SCN2A):c.1629A>G (p.Gly543=)
NM_001040142.2(SCN2A):c.1641A>G (p.Thr547=)
NM_001040142.2(SCN2A):c.1644T>C (p.Tyr548=)
NM_001040142.2(SCN2A):c.1668C>T (p.His556=) rs1574572897
NM_001040142.2(SCN2A):c.1671+14A>T
NM_001040142.2(SCN2A):c.1671+19A>G
NM_001040142.2(SCN2A):c.1672-13T>C
NM_001040142.2(SCN2A):c.1672-13T>G rs1168838956
NM_001040142.2(SCN2A):c.1672-4A>G
NM_001040142.2(SCN2A):c.1672-6T>A rs2105276596
NM_001040142.2(SCN2A):c.1672-7T>C rs1553571855
NM_001040142.2(SCN2A):c.1672-8A>T rs761226454
NM_001040142.2(SCN2A):c.1674C>T (p.Ser558=)
NM_001040142.2(SCN2A):c.1695C>A (p.Ser565=) rs267598960
NM_001040142.2(SCN2A):c.1725G>C (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.1761T>C (p.Ile587=)
NM_001040142.2(SCN2A):c.1764C>T (p.Gly588=) rs2105276848
NM_001040142.2(SCN2A):c.1767T>C (p.Ser589=)
NM_001040142.2(SCN2A):c.177A>C (p.Gly59=) rs796053110
NM_001040142.2(SCN2A):c.1815C>T (p.Asp605=)
NM_001040142.2(SCN2A):c.1833G>A (p.Leu611=) rs1057522258
NM_001040142.2(SCN2A):c.1839G>A (p.Val613=)
NM_001040142.2(SCN2A):c.1842G>A (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1871A>G (p.Asn624Ser)
NM_001040142.2(SCN2A):c.1881G>A (p.Gln627=) rs1466478648
NM_001040142.2(SCN2A):c.1893C>T (p.Ala631=)
NM_001040142.2(SCN2A):c.189A>G (p.Pro63=) rs2106149322
NM_001040142.2(SCN2A):c.1941T>C (p.Ala647=)
NM_001040142.2(SCN2A):c.1956T>C (p.Gly652=)
NM_001040142.2(SCN2A):c.1956T>G (p.Gly652=)
NM_001040142.2(SCN2A):c.1965C>A (p.Ser655=) rs914170392
NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=) rs748739874
NM_001040142.2(SCN2A):c.1968G>C (p.Leu656=)
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1986C>A (p.Thr662=) rs530608927
NM_001040142.2(SCN2A):c.198T>C (p.Tyr66=)
NM_001040142.2(SCN2A):c.1995T>G (p.Ser665=) rs2105277323
NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe) rs766470088
NM_001040142.2(SCN2A):c.2010A>G (p.Leu670=)
NM_001040142.2(SCN2A):c.2016+13A>G
NM_001040142.2(SCN2A):c.2016+17T>C rs2105277430
NM_001040142.2(SCN2A):c.2016+18T>G
NM_001040142.2(SCN2A):c.2025T>C (p.Thr675=) rs1698384424
NM_001040142.2(SCN2A):c.2049A>G (p.Arg683=)
NM_001040142.2(SCN2A):c.2052G>A (p.Arg684=)
NM_001040142.2(SCN2A):c.2058T>C (p.Ser686=) rs1334530455
NM_001040142.2(SCN2A):c.2070T>A (p.Val690=) rs1574600370
NM_001040142.2(SCN2A):c.2079T>C (p.Asp693=) rs1553573107
NM_001040142.2(SCN2A):c.2103G>A (p.Arg701=)
NM_001040142.2(SCN2A):c.2112A>G (p.Ala704=)
NM_001040142.2(SCN2A):c.2119A>T (p.Ile707Leu)
NM_001040142.2(SCN2A):c.213A>T (p.Pro71=) rs1574525422
NM_001040142.2(SCN2A):c.2149+11A>C
NM_001040142.2(SCN2A):c.2149+9A>G
NM_001040142.2(SCN2A):c.2150-10T>G rs1057523367
NM_001040142.2(SCN2A):c.2150-17A>C
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.2277A>G (p.Pro759=)
NM_001040142.2(SCN2A):c.2346C>T (p.Pro782=) rs750905569
NM_001040142.2(SCN2A):c.2352G>A (p.Thr784=) rs369101059
NM_001040142.2(SCN2A):c.2388+20T>G
NM_001040142.2(SCN2A):c.2388+8T>C
NM_001040142.2(SCN2A):c.2389-7C>A
NM_001040142.2(SCN2A):c.2389-9C>T
NM_001040142.2(SCN2A):c.2403C>A (p.Ile801=) rs572550754
NM_001040142.2(SCN2A):c.2406C>T (p.Phe802=)
NM_001040142.2(SCN2A):c.2409A>T (p.Thr803=)
NM_001040142.2(SCN2A):c.2451T>C (p.Tyr817=)
NM_001040142.2(SCN2A):c.24G>T (p.Pro8=)
NM_001040142.2(SCN2A):c.2517T>G (p.Gly839=) rs745823892
NM_001040142.2(SCN2A):c.2562+11T>G
NM_001040142.2(SCN2A):c.2563-13C>T rs1699472180
NM_001040142.2(SCN2A):c.2563-4C>T
NM_001040142.2(SCN2A):c.2568A>G (p.Arg856=)
NM_001040142.2(SCN2A):c.2574C>T (p.Phe858=) rs748244795
NM_001040142.2(SCN2A):c.2598T>C (p.Thr866=) rs1306050789
NM_001040142.2(SCN2A):c.2604T>C (p.Asn868=)
NM_001040142.2(SCN2A):c.2616G>A (p.Lys872=) rs1574641438
NM_001040142.2(SCN2A):c.2637G>T (p.Gly879=)
NM_001040142.2(SCN2A):c.2641C>T (p.Leu881=)
NM_001040142.2(SCN2A):c.267+17G>A rs1240522073
NM_001040142.2(SCN2A):c.268-16G>A
NM_001040142.2(SCN2A):c.268-9C>G
NM_001040142.2(SCN2A):c.2694C>G (p.Val898=) rs1051662437
NM_001040142.2(SCN2A):c.2751T>C (p.Asp917=)
NM_001040142.2(SCN2A):c.2757A>G (p.Glu919=) rs1057520595
NM_001040142.2(SCN2A):c.2787C>T (p.Phe929=)
NM_001040142.2(SCN2A):c.2826G>A (p.Glu942=)
NM_001040142.2(SCN2A):c.2838C>A (p.Thr946=) rs777944503
NM_001040142.2(SCN2A):c.2838C>T (p.Thr946=)
NM_001040142.2(SCN2A):c.2856G>A (p.Glu952=)
NM_001040142.2(SCN2A):c.2886C>T (p.Val962=)
NM_001040142.2(SCN2A):c.2916A>G (p.Leu972=) rs1574642369
NM_001040142.2(SCN2A):c.2919+7A>G
NM_001040142.2(SCN2A):c.2920-4T>G
NM_001040142.2(SCN2A):c.2920-7G>A rs1574664160
NM_001040142.2(SCN2A):c.2928C>T (p.Asn976=) rs2105336790
NM_001040142.2(SCN2A):c.2940C>G (p.Ala980=) rs1574664203
NM_001040142.2(SCN2A):c.2943G>A (p.Leu981=) rs2105336814
NM_001040142.2(SCN2A):c.2985T>C (p.Asp995=) rs1336113495
NM_001040142.2(SCN2A):c.2991T>C (p.Asp997=)
NM_001040142.2(SCN2A):c.2994C>T (p.Asn998=)
NM_001040142.2(SCN2A):c.3027G>A (p.Arg1009=)
NM_001040142.2(SCN2A):c.3039A>G (p.Gly1013=)
NM_001040142.2(SCN2A):c.3042C>T (p.Ile1014=) rs370200920
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3091A>C (p.Arg1031=) rs1700076343
NM_001040142.2(SCN2A):c.3123G>T (p.Pro1041=) rs147576541
NM_001040142.2(SCN2A):c.315C>T (p.Ala105=)
NM_001040142.2(SCN2A):c.3192C>T (p.Asp1064=)
NM_001040142.2(SCN2A):c.3216T>C (p.Asn1072=) rs1700082579
NM_001040142.2(SCN2A):c.3231C>A (p.Gly1077=) rs775367520
NM_001040142.2(SCN2A):c.3246A>G (p.Val1082=)
NM_001040142.2(SCN2A):c.3297T>C (p.Pro1099=)
NM_001040142.2(SCN2A):c.3303C>T (p.Leu1101=) rs1364091068
NM_001040142.2(SCN2A):c.3399+15_3399+18del
NM_001040142.2(SCN2A):c.3400-12A>G
NM_001040142.2(SCN2A):c.3400-13G>A
NM_001040142.2(SCN2A):c.3400-4T>C rs1178159762
NM_001040142.2(SCN2A):c.3400-4dup rs2105355679
NM_001040142.2(SCN2A):c.3432C>T (p.Ser1144=)
NM_001040142.2(SCN2A):c.3435G>T (p.Thr1145=) rs1345931602
NM_001040142.2(SCN2A):c.3441T>C (p.Asp1147=)
NM_001040142.2(SCN2A):c.3446G>C (p.Gly1149Ala)
NM_001040142.2(SCN2A):c.3447A>G (p.Gly1149=)
NM_001040142.2(SCN2A):c.3456C>A (p.Ala1152=)
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3471T>A (p.Pro1157=)
NM_001040142.2(SCN2A):c.3474G>A (p.Glu1158=)
NM_001040142.2(SCN2A):c.3489A>G (p.Glu1163=)
NM_001040142.2(SCN2A):c.348C>T (p.Asn116=)
NM_001040142.2(SCN2A):c.3516A>G (p.Thr1172=)
NM_001040142.2(SCN2A):c.351T>C (p.Pro117=)
NM_001040142.2(SCN2A):c.3520+14T>C
NM_001040142.2(SCN2A):c.3520+18A>G
NM_001040142.2(SCN2A):c.3520+20A>G
NM_001040142.2(SCN2A):c.3521-10C>T
NM_001040142.2(SCN2A):c.3521-13C>T
NM_001040142.2(SCN2A):c.3530G>C (p.Arg1177Pro) rs773202451
NM_001040142.2(SCN2A):c.3566G>A (p.Gly1189Asp) rs540994733
NM_001040142.2(SCN2A):c.3600A>G (p.Thr1200=)
NM_001040142.2(SCN2A):c.3615G>T (p.Val1205=) rs1700782112
NM_001040142.2(SCN2A):c.3621C>T (p.His1207=)
NM_001040142.2(SCN2A):c.3636C>A (p.Thr1212=)
NM_001040142.2(SCN2A):c.3657G>A (p.Leu1219=)
NM_001040142.2(SCN2A):c.3675+13T>C rs2105359866
NM_001040142.2(SCN2A):c.3675+19A>C
NM_001040142.2(SCN2A):c.3676-19A>G
NM_001040142.2(SCN2A):c.3676-4A>G
NM_001040142.2(SCN2A):c.3690A>T (p.Ile1230=)
NM_001040142.2(SCN2A):c.3696T>C (p.Ile1232=)
NM_001040142.2(SCN2A):c.36C>G (p.Asp12Glu) rs1334730213
NM_001040142.2(SCN2A):c.36C>T (p.Asp12=) rs1334730213
NM_001040142.2(SCN2A):c.3702G>A (p.Gln1234=) rs1198199936
NM_001040142.2(SCN2A):c.3732T>C (p.Tyr1244=)
NM_001040142.2(SCN2A):c.376T>C (p.Leu126=) rs2106151267
NM_001040142.2(SCN2A):c.3810T>C (p.Phe1270=) rs1230638602
NM_001040142.2(SCN2A):c.3819C>T (p.Ala1273=) rs2105365337
NM_001040142.2(SCN2A):c.381A>G (p.Val127=) rs2106151272
NM_001040142.2(SCN2A):c.3831A>G (p.Leu1277=)
NM_001040142.2(SCN2A):c.3846T>A (p.Val1282=)
NM_001040142.2(SCN2A):c.3849+13del
NM_001040142.2(SCN2A):c.3849+15del
NM_001040142.2(SCN2A):c.3849+19G>A
NM_001040142.2(SCN2A):c.3849+19G>C
NM_001040142.2(SCN2A):c.386+18G>A
NM_001040142.2(SCN2A):c.3861T>A (p.Val1287=)
NM_001040142.2(SCN2A):c.3861T>C (p.Val1287=)
NM_001040142.2(SCN2A):c.3861T>G (p.Val1287=) rs1701137260
NM_001040142.2(SCN2A):c.387-11C>T
NM_001040142.2(SCN2A):c.3870T>C (p.Thr1290=) rs1225687118
NM_001040142.2(SCN2A):c.3939A>G (p.Pro1313=) rs1553593075
NM_001040142.2(SCN2A):c.3940C>T (p.Leu1314=) rs1574712123
NM_001040142.2(SCN2A):c.3954C>T (p.Ser1318=) rs139507841
NM_001040142.2(SCN2A):c.3972+9G>A rs1261133567
NM_001040142.2(SCN2A):c.3972+9G>T rs1261133567
NM_001040142.2(SCN2A):c.3973-14T>A
NM_001040142.2(SCN2A):c.3975T>G (p.Val1325=) rs1553593569
NM_001040142.2(SCN2A):c.3981A>G (p.Val1327=)
NM_001040142.2(SCN2A):c.402C>A (p.Leu134=)
NM_001040142.2(SCN2A):c.402C>T (p.Leu134=)
NM_001040142.2(SCN2A):c.4045C>T (p.Leu1349=) rs946393942
NM_001040142.2(SCN2A):c.405T>C (p.Ile135=) rs1225501159
NM_001040142.2(SCN2A):c.411C>T (p.Cys137=) rs1253966876
NM_001040142.2(SCN2A):c.4140C>G (p.Val1380=)
NM_001040142.2(SCN2A):c.4187C>T (p.Ala1396Val) rs914316483
NM_001040142.2(SCN2A):c.4224A>G (p.Val1408=) rs1060504830
NM_001040142.2(SCN2A):c.4245A>C (p.Leu1415=)
NM_001040142.2(SCN2A):c.4254+13T>C
NM_001040142.2(SCN2A):c.4254+15T>C
NM_001040142.2(SCN2A):c.4255-4A>G
NM_001040142.2(SCN2A):c.4260G>A (p.Thr1420=) rs138241682
NM_001040142.2(SCN2A):c.4308+10G>T rs2105378539
NM_001040142.2(SCN2A):c.4309-11A>G
NM_001040142.2(SCN2A):c.4311A>G (p.Val1437=)
NM_001040142.2(SCN2A):c.4320A>G (p.Gln1440=)
NM_001040142.2(SCN2A):c.4329T>C (p.Tyr1443=) rs2105384580
NM_001040142.2(SCN2A):c.432A>G (p.Val144=) rs757533588
NM_001040142.2(SCN2A):c.4341G>T (p.Leu1447=) rs2105384602
NM_001040142.2(SCN2A):c.4353T>G (p.Leu1451=) rs2105384625
NM_001040142.2(SCN2A):c.4383A>T (p.Ser1461=)
NM_001040142.2(SCN2A):c.43C>T (p.Arg15Cys)
NM_001040142.2(SCN2A):c.4404C>T (p.Phe1468=) rs2105384719
NM_001040142.2(SCN2A):c.4446+11T>C
NM_001040142.2(SCN2A):c.4446+15A>G
NM_001040142.2(SCN2A):c.4446+16C>T
NM_001040142.2(SCN2A):c.4446+18T>A
NM_001040142.2(SCN2A):c.4447-20T>G rs2105385618
NM_001040142.2(SCN2A):c.4447-6C>T rs1173151782
NM_001040142.2(SCN2A):c.4491C>T (p.Tyr1497=) rs1372606065
NM_001040142.2(SCN2A):c.44G>A (p.Arg15His)
NM_001040142.2(SCN2A):c.4515T>C (p.Gly1505=)
NM_001040142.2(SCN2A):c.4545A>T (p.Arg1515=)
NM_001040142.2(SCN2A):c.4551+12A>G
NM_001040142.2(SCN2A):c.4551+19C>A rs753272771
NM_001040142.2(SCN2A):c.4551+20A>G
NM_001040142.2(SCN2A):c.4551+8T>G rs1064797263
NM_001040142.2(SCN2A):c.4552-10T>C
NM_001040142.2(SCN2A):c.4552-12T>C
NM_001040142.2(SCN2A):c.4552-14del
NM_001040142.2(SCN2A):c.4552-15T>C
NM_001040142.2(SCN2A):c.4552-16A>G
NM_001040142.2(SCN2A):c.4552-4C>A
NM_001040142.2(SCN2A):c.4552-5T>C
NM_001040142.2(SCN2A):c.4557A>G (p.Lys1519=) rs1574746483
NM_001040142.2(SCN2A):c.4572C>A (p.Val1524=)
NM_001040142.2(SCN2A):c.4572C>T (p.Val1524=) rs776254144
NM_001040142.2(SCN2A):c.4575T>C (p.Phe1525=)
NM_001040142.2(SCN2A):c.4596C>A (p.Val1532=)
NM_001040142.2(SCN2A):c.4596C>G (p.Val1532=) rs371690453
NM_001040142.2(SCN2A):c.4656C>G (p.Thr1552=) rs765041838
NM_001040142.2(SCN2A):c.4659T>C (p.Asp1553=)
NM_001040142.2(SCN2A):c.4686T>A (p.Ile1562=)
NM_001040142.2(SCN2A):c.4719G>C (p.Leu1573=)
NM_001040142.2(SCN2A):c.4738C>T (p.Leu1580=)
NM_001040142.2(SCN2A):c.474G>A (p.Val158=)
NM_001040142.2(SCN2A):c.477-15G>A
NM_001040142.2(SCN2A):c.477-15G>T rs1475312967
NM_001040142.2(SCN2A):c.477-5C>T rs2105243234
NM_001040142.2(SCN2A):c.4779A>T (p.Gly1593=)
NM_001040142.2(SCN2A):c.4797T>C (p.Phe1599=)
NM_001040142.2(SCN2A):c.4822+8G>A rs2105398667
NM_001040142.2(SCN2A):c.4823-15G>T rs375524288
NM_001040142.2(SCN2A):c.4823-6C>A
NM_001040142.2(SCN2A):c.4836T>A (p.Ala1612=) rs144133411
NM_001040142.2(SCN2A):c.483C>G (p.Thr161=)
NM_001040142.2(SCN2A):c.4842G>A (p.Leu1614=)
NM_001040142.2(SCN2A):c.4842G>C (p.Leu1614=)
NM_001040142.2(SCN2A):c.4872G>C (p.Leu1624=) rs1702002389
NM_001040142.2(SCN2A):c.4935G>A (p.Gly1645=)
NM_001040142.2(SCN2A):c.4938C>T (p.Ile1646=)
NM_001040142.2(SCN2A):c.4956T>A (p.Ala1652=)
NM_001040142.2(SCN2A):c.5007G>T (p.Leu1669=) rs1423260538
NM_001040142.2(SCN2A):c.5016C>T (p.Phe1672=)
NM_001040142.2(SCN2A):c.5070G>A (p.Gly1690=)
NM_001040142.2(SCN2A):c.5073C>T (p.Ile1691=) rs1702013086
NM_001040142.2(SCN2A):c.5097C>T (p.Thr1699=)
NM_001040142.2(SCN2A):c.5136C>A (p.Thr1712=)
NM_001040142.2(SCN2A):c.5163A>T (p.Ala1721=)
NM_001040142.2(SCN2A):c.5169T>C (p.Ile1723=)
NM_001040142.2(SCN2A):c.5183C>T (p.Pro1728Leu) rs2105402674
NM_001040142.2(SCN2A):c.5184T>A (p.Pro1728=)
NM_001040142.2(SCN2A):c.5187A>C (p.Pro1729=)
NM_001040142.2(SCN2A):c.5187A>T (p.Pro1729=)
NM_001040142.2(SCN2A):c.5190C>T (p.Asp1730=) rs757159972
NM_001040142.2(SCN2A):c.5271C>G (p.Val1757=) rs2105402892
NM_001040142.2(SCN2A):c.5292C>T (p.Phe1764=)
NM_001040142.2(SCN2A):c.5304G>A (p.Val1768=)
NM_001040142.2(SCN2A):c.5322C>T (p.Val1774=)
NM_001040142.2(SCN2A):c.5346T>C (p.Ala1782=)
NM_001040142.2(SCN2A):c.534C>T (p.Gly178=) rs1559351963
NM_001040142.2(SCN2A):c.5421C>T (p.Pro1807=)
NM_001040142.2(SCN2A):c.5466A>G (p.Ala1822=)
NM_001040142.2(SCN2A):c.546A>G (p.Glu182=)
NM_001040142.2(SCN2A):c.5481T>G (p.Pro1827=)
NM_001040142.2(SCN2A):c.549T>C (p.Asp183=) rs1237372557
NM_001040142.2(SCN2A):c.5514G>A (p.Gln1838=) rs547095921
NM_001040142.2(SCN2A):c.5517C>A (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.555A>G (p.Thr185=) rs1485827292
NM_001040142.2(SCN2A):c.555A>T (p.Thr185=)
NM_001040142.2(SCN2A):c.5592T>C (p.Arg1864=)
NM_001040142.2(SCN2A):c.5619T>C (p.Asp1873=)
NM_001040142.2(SCN2A):c.5644C>A (p.Arg1882=)
NM_001040142.2(SCN2A):c.5682G>A (p.Glu1894=)
NM_001040142.2(SCN2A):c.5697G>T (p.Thr1899=) rs746574956
NM_001040142.2(SCN2A):c.570A>G (p.Pro190=)
NM_001040142.2(SCN2A):c.5721G>T (p.Val1907=) rs1060504829
NM_001040142.2(SCN2A):c.5742G>A (p.Arg1914=)
NM_001040142.2(SCN2A):c.5745T>C (p.Ala1915=) rs1020615406
NM_001040142.2(SCN2A):c.5769A>G (p.Gln1923=)
NM_001040142.2(SCN2A):c.5772A>G (p.Lys1924=)
NM_001040142.2(SCN2A):c.5778A>G (p.Lys1926=)
NM_001040142.2(SCN2A):c.5805C>T (p.Asp1935=)
NM_001040142.2(SCN2A):c.580T>C (p.Leu194=) rs1015952309
NM_001040142.2(SCN2A):c.5832C>G (p.Pro1944=) rs1268874177
NM_001040142.2(SCN2A):c.5835C>T (p.Ile1945=) rs972057381
NM_001040142.2(SCN2A):c.5844T>C (p.Asp1948=)
NM_001040142.2(SCN2A):c.5862G>A (p.Leu1954=)
NM_001040142.2(SCN2A):c.5868G>A (p.Glu1956=)
NM_001040142.2(SCN2A):c.5898G>A (p.Thr1966=) rs761947985
NM_001040142.2(SCN2A):c.5901T>G (p.Pro1967=)
NM_001040142.2(SCN2A):c.591A>G (p.Thr197=)
NM_001040142.2(SCN2A):c.5928T>C (p.Asp1976=) rs755379418
NM_001040142.2(SCN2A):c.5955A>G (p.Lys1985=) rs572474239
NM_001040142.2(SCN2A):c.6009T>C (p.Ser2003=) rs748224005
NM_001040142.2(SCN2A):c.6015G>A (p.Lys2005=) rs1301968587
NM_001040142.2(SCN2A):c.605+14_605+15insTA
NM_001040142.2(SCN2A):c.605+15A>T
NM_001040142.2(SCN2A):c.605+16C>T
NM_001040142.2(SCN2A):c.606-13C>A
NM_001040142.2(SCN2A):c.606-13_606-12insT rs2105244802
NM_001040142.2(SCN2A):c.606-18G>A
NM_001040142.2(SCN2A):c.606-6_606-4del rs2105244825
NM_001040142.2(SCN2A):c.606-7A>T
NM_001040142.2(SCN2A):c.606-8del rs1697308967
NM_001040142.2(SCN2A):c.636T>C (p.Asn212=) rs2105244918
NM_001040142.2(SCN2A):c.645G>A (p.Ala215=) rs370724112
NM_001040142.2(SCN2A):c.646T>C (p.Leu216=)
NM_001040142.2(SCN2A):c.654A>G (p.Thr218=) rs2105244995
NM_001040142.2(SCN2A):c.666C>T (p.Leu222=) rs2105245029
NM_001040142.2(SCN2A):c.681A>G (p.Thr227=) rs2228987
NM_001040142.2(SCN2A):c.684T>A (p.Ile228=) rs2105245070
NM_001040142.2(SCN2A):c.687A>G (p.Ser229=) rs779972161
NM_001040142.2(SCN2A):c.697+11G>T
NM_001040142.2(SCN2A):c.698-14G>T rs1697359238
NM_001040142.2(SCN2A):c.780C>T (p.Ser260=)
NM_001040142.2(SCN2A):c.792A>G (p.Leu264=)
NM_001040142.2(SCN2A):c.795A>C (p.Ile265=)
NM_001040142.2(SCN2A):c.816C>A (p.Gly272=) rs2105247434
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001040142.2(SCN2A):c.876C>A (p.Ile292=)
NM_001040142.2(SCN2A):c.909T>C (p.Asn303=) rs756068683
NM_001040142.2(SCN2A):c.916A>T (p.Thr306Ser) rs370114048
NM_001040142.2(SCN2A):c.924T>C (p.Asn308=)
NM_001040142.2(SCN2A):c.966T>C (p.Asp322=)
NM_001040142.2(SCN2A):c.970+11C>G
NM_001040142.2(SCN2A):c.970+15A>G
NM_001040142.2(SCN2A):c.970+20C>A
NM_001040142.2(SCN2A):c.970+20C>G rs190639791
NM_001040142.2(SCN2A):c.970+8A>C
NM_001040142.2(SCN2A):c.970+8A>G
NM_001040142.2(SCN2A):c.971-10C>G
NM_001040142.2(SCN2A):c.971-20A>G
NM_001040142.2(SCN2A):c.971-6A>C
NM_001040142.2(SCN2A):c.972T>C (p.Ser324=)
NM_001127644.2(GABRA1):c.1008T>C (p.Tyr336=)
NM_001127644.2(GABRA1):c.1020A>G (p.Arg340=)
NM_001127644.2(GABRA1):c.1029A>G (p.Ala343=) rs1304537393
NM_001127644.2(GABRA1):c.1059+14T>C
NM_001127644.2(GABRA1):c.1059+7G>A
NM_001127644.2(GABRA1):c.1059+8C>A rs758699164
NM_001127644.2(GABRA1):c.1060-10del rs1581221506
NM_001127644.2(GABRA1):c.1060-14C>T rs1755401207
NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_001127644.2(GABRA1):c.1068A>G (p.Lys356=)
NM_001127644.2(GABRA1):c.1146C>A (p.Gly382=)
NM_001127644.2(GABRA1):c.1152G>A (p.Pro384=) rs777957860
NM_001127644.2(GABRA1):c.1206C>A (p.Pro402=)
NM_001127644.2(GABRA1):c.1212A>G (p.Thr404=)
NM_001127644.2(GABRA1):c.1239T>C (p.Phe413=) rs2113470244
NM_001127644.2(GABRA1):c.1251C>T (p.Ser417=)
NM_001127644.2(GABRA1):c.1257T>C (p.Ile419=) rs1755413332
NM_001127644.2(GABRA1):c.1260C>T (p.Asp420=)
NM_001127644.2(GABRA1):c.1263A>T (p.Arg421=) rs1581221881
NM_001127644.2(GABRA1):c.1264C>T (p.Leu422=) rs754135872
NM_001127644.2(GABRA1):c.1288C>T (p.Leu430=)
NM_001127644.2(GABRA1):c.1329A>G (p.Leu443=) rs2113470613
NM_001127644.2(GABRA1):c.1347A>G (p.Leu449=)
NM_001127644.2(GABRA1):c.1360C>T (p.Pro454Ser)
NM_001127644.2(GABRA1):c.1365T>C (p.His455=)
NM_001127644.2(GABRA1):c.147C>A (p.Leu49=) rs2113307246
NM_001127644.2(GABRA1):c.148C>T (p.Leu50=) rs2113307265
NM_001127644.2(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_001127644.2(GABRA1):c.153T>C (p.Asp51=)
NM_001127644.2(GABRA1):c.187+16G>T
NM_001127644.2(GABRA1):c.187+5G>T rs368360804
NM_001127644.2(GABRA1):c.188-12C>G
NM_001127644.2(GABRA1):c.188-14T>C
NM_001127644.2(GABRA1):c.188-15T>A
NM_001127644.2(GABRA1):c.188-19C>T
NM_001127644.2(GABRA1):c.188-9C>A
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn) rs2113354062
NM_001127644.2(GABRA1):c.201A>G (p.Glu67=) rs766903604
NM_001127644.2(GABRA1):c.216C>A (p.Ile72=)
NM_001127644.2(GABRA1):c.255+10C>A
NM_001127644.2(GABRA1):c.255+8G>A
NM_001127644.2(GABRA1):c.255+9A>T
NM_001127644.2(GABRA1):c.256-4C>T
NM_001127644.2(GABRA1):c.258A>G (p.Glu86=)
NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=) rs1057523723
NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)
NM_001127644.2(GABRA1):c.303G>A (p.Arg101=) rs758360317
NM_001127644.2(GABRA1):c.321T>A (p.Pro107=) rs932397983
NM_001127644.2(GABRA1):c.333C>A (p.Leu111=)
NM_001127644.2(GABRA1):c.346C>T (p.Leu116=) rs1048661957
NM_001127644.2(GABRA1):c.348A>G (p.Leu116=) rs1233872919
NM_001127644.2(GABRA1):c.396G>A (p.Lys132=)
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=) rs1581175017
NM_001127644.2(GABRA1):c.429C>T (p.Asn143=)
NM_001127644.2(GABRA1):c.435C>G (p.Leu145=)
NM_001127644.2(GABRA1):c.439C>A (p.Arg147=)
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127644.2(GABRA1):c.453T>C (p.Asp151=) rs1308271547
NM_001127644.2(GABRA1):c.463C>T (p.Leu155=)
NM_001127644.2(GABRA1):c.476+14C>T rs1180737693
NM_001127644.2(GABRA1):c.476+19C>T rs1057522828
NM_001127644.2(GABRA1):c.477-14_477-13del
NM_001127644.2(GABRA1):c.477-7C>T
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_001127644.2(GABRA1):c.513G>A (p.Glu171=)
NM_001127644.2(GABRA1):c.522T>A (p.Pro174=)
NM_001127644.2(GABRA1):c.537T>C (p.Ala179=) rs945438671
NM_001127644.2(GABRA1):c.559+15A>G
NM_001127644.2(GABRA1):c.559+16T>C
NM_001127644.2(GABRA1):c.559+18G>A
NM_001127644.2(GABRA1):c.559+19A>G rs1554085838
NM_001127644.2(GABRA1):c.559+20C>T rs2113389380
NM_001127644.2(GABRA1):c.560-12G>C
NM_001127644.2(GABRA1):c.560-13T>C rs2113414291
NM_001127644.2(GABRA1):c.560-9T>C rs1581207011
NM_001127644.2(GABRA1):c.560-9del rs1230461981
NM_001127644.2(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_001127644.2(GABRA1):c.576A>T (p.Ala192=)
NM_001127644.2(GABRA1):c.612C>G (p.Arg204=)
NM_001127644.2(GABRA1):c.624A>G (p.Val208=)
NM_001127644.2(GABRA1):c.627A>G (p.Ala209=)
NM_001127644.2(GABRA1):c.651G>A (p.Gln217=)
NM_001127644.2(GABRA1):c.703+18A>G
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.703+8C>T rs376693195
NM_001127644.2(GABRA1):c.703+9G>A
NM_001127644.2(GABRA1):c.708A>G (p.Glu236=)
NM_001127644.2(GABRA1):c.723C>A (p.Thr241=) rs2113446356
NM_001127644.2(GABRA1):c.729T>C (p.His243=) rs772218052
NM_001127644.2(GABRA1):c.732C>T (p.Phe244=) rs1581215256
NM_001127644.2(GABRA1):c.74+10C>T rs557887445
NM_001127644.2(GABRA1):c.74+13T>A
NM_001127644.2(GABRA1):c.74+16T>A
NM_001127644.2(GABRA1):c.74+9A>C
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.75-11T>C
NM_001127644.2(GABRA1):c.75-13T>C
NM_001127644.2(GABRA1):c.75-14_75-13del
NM_001127644.2(GABRA1):c.75-17T>G
NM_001127644.2(GABRA1):c.75-18C>G
NM_001127644.2(GABRA1):c.75-7T>C
NM_001127644.2(GABRA1):c.75-8T>G
NM_001127644.2(GABRA1):c.753C>T (p.Gly251=) rs2113446431
NM_001127644.2(GABRA1):c.768A>G (p.Gln256=)
NM_001127644.2(GABRA1):c.775C>T (p.Leu259=)
NM_001127644.2(GABRA1):c.834T>G (p.Ser278=) rs749956729
NM_001127644.2(GABRA1):c.856+8C>T rs1554087151
NM_001127644.2(GABRA1):c.857-10T>A rs2113464132
NM_001127644.2(GABRA1):c.857-18T>A rs78782356
NM_001127644.2(GABRA1):c.857-20del
NM_001127644.2(GABRA1):c.857-8C>T rs752572964
NM_001127644.2(GABRA1):c.867T>A (p.Thr289=)
NM_001127644.2(GABRA1):c.906C>T (p.Asn302=)
NM_001127644.2(GABRA1):c.927T>C (p.Tyr309=)
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr) rs1755335825
NM_001127644.2(GABRA1):c.978A>G (p.Ser326=)
NM_001127644.2(GABRA1):c.999A>T (p.Thr333=)
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg) rs150793549
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.6016A>T (p.Thr2006Ser)
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg) rs2131953509
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln) rs755273355
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser) rs1589389281
NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro) rs1851427709
NM_001134407.3(GRIN2A):c.*7650_*7654del rs537062402
NM_001134407.3(GRIN2A):c.1007+12C>A
NM_001134407.3(GRIN2A):c.1007+17T>C
NM_001134407.3(GRIN2A):c.1007+8A>G rs2141629108
NM_001134407.3(GRIN2A):c.1008-14C>T rs776960433
NM_001134407.3(GRIN2A):c.1008-6T>G
NM_001134407.3(GRIN2A):c.1008-8C>T
NM_001134407.3(GRIN2A):c.1035C>T (p.Gly345=)
NM_001134407.3(GRIN2A):c.1041C>T (p.Asp347=) rs1390365288
NM_001134407.3(GRIN2A):c.1044A>G (p.Leu348=)
NM_001134407.3(GRIN2A):c.1047C>T (p.Ser349=)
NM_001134407.3(GRIN2A):c.1072C>A (p.His358Asn)
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln) rs763315364
NM_001134407.3(GRIN2A):c.1078A>C (p.Arg360=) rs929836056
NM_001134407.3(GRIN2A):c.1081C>T (p.Leu361=) rs267604690
NM_001134407.3(GRIN2A):c.1083G>A (p.Leu361=)
NM_001134407.3(GRIN2A):c.108T>A (p.Ile36=)
NM_001134407.3(GRIN2A):c.1123-19C>T
NM_001134407.3(GRIN2A):c.1125G>C (p.Val375=) rs2141370109
NM_001134407.3(GRIN2A):c.1131G>A (p.Lys377=) rs1465011695
NM_001134407.3(GRIN2A):c.1141C>A (p.His381Asn)
NM_001134407.3(GRIN2A):c.1145C>G (p.Thr382Arg)
NM_001134407.3(GRIN2A):c.1149G>A (p.Leu383=) rs1219972496
NM_001134407.3(GRIN2A):c.1155G>A (p.Leu385=) rs139119497
NM_001134407.3(GRIN2A):c.1200G>A (p.Glu400=)
NM_001134407.3(GRIN2A):c.1203G>T (p.Pro401=)
NM_001134407.3(GRIN2A):c.120G>T (p.Leu40=) rs2050239024
NM_001134407.3(GRIN2A):c.123T>C (p.Gly41=)
NM_001134407.3(GRIN2A):c.1242C>A (p.Ala414=)
NM_001134407.3(GRIN2A):c.1254C>A (p.Ile418=)
NM_001134407.3(GRIN2A):c.1269C>T (p.Asp423=) rs766685370
NM_001134407.3(GRIN2A):c.1271C>T (p.Pro424Leu) rs375260513
NM_001134407.3(GRIN2A):c.1272C>T (p.Pro424=)
NM_001134407.3(GRIN2A):c.1296C>T (p.Asn432=)
NM_001134407.3(GRIN2A):c.1305A>C (p.Pro435=) rs1555496114
NM_001134407.3(GRIN2A):c.1308T>C (p.Cys436=)
NM_001134407.3(GRIN2A):c.1317C>T (p.Phe439=)
NM_001134407.3(GRIN2A):c.1322A>C (p.Lys441Thr)
NM_001134407.3(GRIN2A):c.1328+11G>A
NM_001134407.3(GRIN2A):c.1328+13A>G
NM_001134407.3(GRIN2A):c.1329-20C>G
NM_001134407.3(GRIN2A):c.1329-5T>C rs2141346229
NM_001134407.3(GRIN2A):c.1329-7dup rs1455515948
NM_001134407.3(GRIN2A):c.1342G>A (p.Glu448Lys) rs368026708
NM_001134407.3(GRIN2A):c.1351A>T (p.Asn451Tyr) rs2141345962
NM_001134407.3(GRIN2A):c.1352A>G (p.Asn451Ser)
NM_001134407.3(GRIN2A):c.1374G>A (p.Gly458=) rs368221866
NM_001134407.3(GRIN2A):c.1374G>T (p.Gly458=) rs368221866
NM_001134407.3(GRIN2A):c.1386T>C (p.Asp462=)
NM_001134407.3(GRIN2A):c.1410T>A (p.Thr470=) rs372058698
NM_001134407.3(GRIN2A):c.1410T>C (p.Thr470=) rs372058698
NM_001134407.3(GRIN2A):c.1426G>A (p.Asp476Asn)
NM_001134407.3(GRIN2A):c.1428C>T (p.Asp476=) rs762674544
NM_001134407.3(GRIN2A):c.1431C>G (p.Leu477=) rs772869148
NM_001134407.3(GRIN2A):c.1446T>C (p.Asn482=)
NM_001134407.3(GRIN2A):c.144G>A (p.Glu48=) rs1334555320
NM_001134407.3(GRIN2A):c.1497+19C>T rs1432754649
NM_001134407.3(GRIN2A):c.1498-18T>C
NM_001134407.3(GRIN2A):c.1498-4C>T
NM_001134407.3(GRIN2A):c.1498-8G>T rs1242162646
NM_001134407.3(GRIN2A):c.1548G>A (p.Glu516=)
NM_001134407.3(GRIN2A):c.1557T>G (p.Ser519=)
NM_001134407.3(GRIN2A):c.1596A>G (p.Gly532=)
NM_001134407.3(GRIN2A):c.1602T>C (p.Ser534=) rs2141342406
NM_001134407.3(GRIN2A):c.1651+11T>A
NM_001134407.3(GRIN2A):c.1651+13C>T
NM_001134407.3(GRIN2A):c.1651+14A>C
NM_001134407.3(GRIN2A):c.1651+14A>T rs1375166103
NM_001134407.3(GRIN2A):c.1651+16A>C
NM_001134407.3(GRIN2A):c.1651+3G>A
NM_001134407.3(GRIN2A):c.1662C>T (p.Ser554=) rs1596476657
NM_001134407.3(GRIN2A):c.1665C>T (p.Ala555=)
NM_001134407.3(GRIN2A):c.166G>A (p.Gly56Ser)
NM_001134407.3(GRIN2A):c.1677G>A (p.Val559=) rs2141325632
NM_001134407.3(GRIN2A):c.168C>G (p.Gly56=) rs748684701
NM_001134407.3(GRIN2A):c.1719T>C (p.Val573=)
NM_001134407.3(GRIN2A):c.1725C>T (p.Val575=)
NM_001134407.3(GRIN2A):c.172G>A (p.Glu58Lys) rs143833346
NM_001134407.3(GRIN2A):c.1734C>T (p.Tyr578=) rs1060503228
NM_001134407.3(GRIN2A):c.1737C>T (p.Phe579=) rs2141325353
NM_001134407.3(GRIN2A):c.1743T>C (p.Pro581=)
NM_001134407.3(GRIN2A):c.1749A>G (p.Gly583=) rs367543141
NM_001134407.3(GRIN2A):c.174G>A (p.Glu58=) rs1432050454
NM_001134407.3(GRIN2A):c.1752C>T (p.Tyr584=)
NM_001134407.3(GRIN2A):c.1777+19G>C
NM_001134407.3(GRIN2A):c.1777+6G>T rs76549675
NM_001134407.3(GRIN2A):c.1777+7G>A
NM_001134407.3(GRIN2A):c.1784A>G (p.His595Arg)
NM_001134407.3(GRIN2A):c.1815A>T (p.Ile605=)
NM_001134407.3(GRIN2A):c.1833G>C (p.Leu611=)
NM_001134407.3(GRIN2A):c.183G>A (p.Ala61=)
NM_001134407.3(GRIN2A):c.1893A>G (p.Val631=)
NM_001134407.3(GRIN2A):c.18T>C (p.Tyr6=)
NM_001134407.3(GRIN2A):c.1914T>A (p.Ala638=)
NM_001134407.3(GRIN2A):c.1929T>C (p.Ala643=) rs2141312447
NM_001134407.3(GRIN2A):c.1953C>A (p.Ala651=) rs1373636631
NM_001134407.3(GRIN2A):c.1962C>A (p.Ile654=)
NM_001134407.3(GRIN2A):c.2007+20C>G rs1013909512
NM_001134407.3(GRIN2A):c.2008-13G>A
NM_001134407.3(GRIN2A):c.2008-18T>C rs191897643
NM_001134407.3(GRIN2A):c.2008-20C>T
NM_001134407.3(GRIN2A):c.2008-5T>C
NM_001134407.3(GRIN2A):c.2027A>C (p.Tyr676Ser) rs2141295127
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=) rs1057523027
NM_001134407.3(GRIN2A):c.2085G>A (p.Arg695=) rs9806806
NM_001134407.3(GRIN2A):c.2134G>A (p.Gly712Arg) rs1555491635
NM_001134407.3(GRIN2A):c.2149T>C (p.Leu717=) rs2141294625
NM_001134407.3(GRIN2A):c.2151G>A (p.Leu717=) rs1181779977
NM_001134407.3(GRIN2A):c.2166G>A (p.Thr722=)
NM_001134407.3(GRIN2A):c.2168+18C>T
NM_001134407.3(GRIN2A):c.2169-13C>G
NM_001134407.3(GRIN2A):c.2178C>T (p.Asp726=)
NM_001134407.3(GRIN2A):c.2223G>A (p.Arg741=)
NM_001134407.3(GRIN2A):c.2259G>C (p.Gly753=) rs1282411841
NM_001134407.3(GRIN2A):c.231C>T (p.Thr77=)
NM_001134407.3(GRIN2A):c.2325C>T (p.Ile775=) rs748291723
NM_001134407.3(GRIN2A):c.2329C>T (p.Leu777=) rs1013991339
NM_001134407.3(GRIN2A):c.2337G>A (p.Leu779=)
NM_001134407.3(GRIN2A):c.2340T>G (p.Leu780=)
NM_001134407.3(GRIN2A):c.2355T>C (p.Asp785=) rs1903125192
NM_001134407.3(GRIN2A):c.2356+13G>A rs1006336368
NM_001134407.3(GRIN2A):c.2356+13G>C
NM_001134407.3(GRIN2A):c.2356+17C>T
NM_001134407.3(GRIN2A):c.2356+6A>T rs1030132899
NM_001134407.3(GRIN2A):c.2356+9C>G
NM_001134407.3(GRIN2A):c.2357-17T>C
NM_001134407.3(GRIN2A):c.2357-19A>C
NM_001134407.3(GRIN2A):c.2357-4C>G
NM_001134407.3(GRIN2A):c.2370G>A (p.Glu790=)
NM_001134407.3(GRIN2A):c.2445C>T (p.Asp815=) rs754929310
NM_001134407.3(GRIN2A):c.2463C>T (p.Phe821=)
NM_001134407.3(GRIN2A):c.2466C>T (p.Tyr822=) rs2141150691
NM_001134407.3(GRIN2A):c.2475T>A (p.Ala825=)
NM_001134407.3(GRIN2A):c.2478C>A (p.Ala826=)
NM_001134407.3(GRIN2A):c.247A>G (p.Ile83Val)
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe) rs145495027
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser) rs1006328489
NM_001134407.3(GRIN2A):c.2517C>T (p.His839=) rs769482103
NM_001134407.3(GRIN2A):c.2526C>T (p.Tyr842=)
NM_001134407.3(GRIN2A):c.2537G>A (p.Arg846His)
NM_001134407.3(GRIN2A):c.2547C>T (p.Phe849=) rs758351955
NM_001134407.3(GRIN2A):c.2568G>T (p.Arg856=)
NM_001134407.3(GRIN2A):c.2586C>T (p.Ser862=) rs2141149475
NM_001134407.3(GRIN2A):c.2592C>T (p.Ser864=)
NM_001134407.3(GRIN2A):c.2595+13G>A
NM_001134407.3(GRIN2A):c.2595+18C>A
NM_001134407.3(GRIN2A):c.2595+7A>G
NM_001134407.3(GRIN2A):c.2596-12G>C
NM_001134407.3(GRIN2A):c.2596-17A>G
NM_001134407.3(GRIN2A):c.2596-18T>C
NM_001134407.3(GRIN2A):c.2596-6C>T
NM_001134407.3(GRIN2A):c.2601C>T (p.Ile867=)
NM_001134407.3(GRIN2A):c.2607C>T (p.Ser869=)
NM_001134407.3(GRIN2A):c.2611A>G (p.Ile871Val) rs927932970
NM_001134407.3(GRIN2A):c.2625C>T (p.His875=)
NM_001134407.3(GRIN2A):c.2626A>T (p.Ile876Phe)
NM_001134407.3(GRIN2A):c.2627T>A (p.Ile876Asn) rs199784503
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_001134407.3(GRIN2A):c.2651A>G (p.Asp884Gly)
NM_001134407.3(GRIN2A):c.2661G>C (p.Leu887=)
NM_001134407.3(GRIN2A):c.2663C>G (p.Thr888Arg) rs149698593
NM_001134407.3(GRIN2A):c.2670C>T (p.Ser890=)
NM_001134407.3(GRIN2A):c.2674A>G (p.Ser892Gly) rs1060503229
NM_001134407.3(GRIN2A):c.2696G>C (p.Arg899Pro)
NM_001134407.3(GRIN2A):c.2712T>A (p.Ile904=)
NM_001134407.3(GRIN2A):c.2715C>T (p.Ser905=)
NM_001134407.3(GRIN2A):c.273C>G (p.Ser91=)
NM_001134407.3(GRIN2A):c.2755A>G (p.Lys919Glu) rs1555482911
NM_001134407.3(GRIN2A):c.2765C>G (p.Ala922Gly) rs200037904
NM_001134407.3(GRIN2A):c.2784T>G (p.Gly928=)
NM_001134407.3(GRIN2A):c.2790C>G (p.Leu930=) rs1048008799
NM_001134407.3(GRIN2A):c.27G>A (p.Leu9=) rs2142391446
NM_001134407.3(GRIN2A):c.280C>G (p.Arg94Gly) rs1282664179
NM_001134407.3(GRIN2A):c.2821T>C (p.Leu941=) rs1670156767
NM_001134407.3(GRIN2A):c.2838C>T (p.Asn946=)
NM_001134407.3(GRIN2A):c.285C>A (p.Ile95=) rs756116240
NM_001134407.3(GRIN2A):c.2861G>C (p.Ser954Thr)
NM_001134407.3(GRIN2A):c.2862C>T (p.Ser954=)
NM_001134407.3(GRIN2A):c.2877C>T (p.Asn959=) rs756576680
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.288C>T (p.His96=) rs74853460
NM_001134407.3(GRIN2A):c.2910G>A (p.Arg970=)
NM_001134407.3(GRIN2A):c.2937A>G (p.Val979=) rs2141135862
NM_001134407.3(GRIN2A):c.2949A>G (p.Gln983=) rs2141135761
NM_001134407.3(GRIN2A):c.2958T>G (p.Leu986=) rs1057522359
NM_001134407.3(GRIN2A):c.2961T>G (p.Thr987=)
NM_001134407.3(GRIN2A):c.2967T>C (p.Asn989=)
NM_001134407.3(GRIN2A):c.2970G>A (p.Glu990=) rs1300708683
NM_001134407.3(GRIN2A):c.2983A>G (p.Thr995Ala) rs749438401
NM_001134407.3(GRIN2A):c.2985G>C (p.Thr995=) rs781646325
NM_001134407.3(GRIN2A):c.2988G>A (p.Val996=) rs2141135502
NM_001134407.3(GRIN2A):c.2991G>A (p.Glu997=) rs755332991
NM_001134407.3(GRIN2A):c.2995G>A (p.Ala999Thr)
NM_001134407.3(GRIN2A):c.2997C>G (p.Ala999=) rs144706004
NM_001134407.3(GRIN2A):c.2997C>T (p.Ala999=) rs144706004
NM_001134407.3(GRIN2A):c.3000G>A (p.Val1000=)
NM_001134407.3(GRIN2A):c.3030C>T (p.Pro1010=) rs763891276
NM_001134407.3(GRIN2A):c.3032G>C (p.Arg1011Pro) rs1163766811
NM_001134407.3(GRIN2A):c.3032_3033insCCT (p.Arg1011_Gln1012insLeu) rs2141135194
NM_001134407.3(GRIN2A):c.3039G>T (p.Leu1013=) rs577077724
NM_001134407.3(GRIN2A):c.3061A>G (p.Ile1021Val) rs1181382897
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser) rs560057284
NM_001134407.3(GRIN2A):c.3065G>A (p.Arg1022His)
NM_001134407.3(GRIN2A):c.306C>A (p.Asp102Glu)
NM_001134407.3(GRIN2A):c.3075A>G (p.Ser1025=)
NM_001134407.3(GRIN2A):c.3078A>C (p.Leu1026=)
NM_001134407.3(GRIN2A):c.3099G>A (p.Gln1033=)
NM_001134407.3(GRIN2A):c.3108G>A (p.Glu1036=) rs1555482675
NM_001134407.3(GRIN2A):c.3113C>T (p.Thr1038Ile)
NM_001134407.3(GRIN2A):c.3129C>G (p.Thr1043=)
NM_001134407.3(GRIN2A):c.3132C>T (p.His1044=) rs373175480
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly) rs797045015
NM_001134407.3(GRIN2A):c.3153T>C (p.Tyr1051=)
NM_001134407.3(GRIN2A):c.315C>T (p.Asp105=)
NM_001134407.3(GRIN2A):c.3164A>T (p.Glu1055Val) rs1900773737
NM_001134407.3(GRIN2A):c.3172C>G (p.His1058Asp)
NM_001134407.3(GRIN2A):c.3172C>T (p.His1058Tyr)
NM_001134407.3(GRIN2A):c.3196A>T (p.Asn1066Tyr)
NM_001134407.3(GRIN2A):c.31G>A (p.Val11Met)
NM_001134407.3(GRIN2A):c.3206C>T (p.Thr1069Met) rs777249842
NM_001134407.3(GRIN2A):c.3207G>A (p.Thr1069=) rs752560113
NM_001134407.3(GRIN2A):c.3207G>C (p.Thr1069=)
NM_001134407.3(GRIN2A):c.3207G>T (p.Thr1069=)
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3246C>G (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.324C>T (p.Ala108=) rs762110435
NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)
NM_001134407.3(GRIN2A):c.3282C>T (p.Tyr1094=) rs2141133865
NM_001134407.3(GRIN2A):c.3285C>A (p.Pro1095=) rs1596376404
NM_001134407.3(GRIN2A):c.3307C>T (p.Arg1103Cys) rs748879665
NM_001134407.3(GRIN2A):c.3308G>T (p.Arg1103Leu) rs1064796904
NM_001134407.3(GRIN2A):c.3315C>T (p.Tyr1105=)
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs) rs1419346546
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile) rs1185300490
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs) rs1215972111
NM_001134407.3(GRIN2A):c.3324C>A (p.Thr1108=)
NM_001134407.3(GRIN2A):c.3339T>C (p.Pro1113=) rs2141133304
NM_001134407.3(GRIN2A):c.3345C>G (p.Asp1115Glu)
NM_001134407.3(GRIN2A):c.3345C>T (p.Asp1115=)
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu) rs1440127051
NM_001134407.3(GRIN2A):c.3357T>C (p.Thr1119=) rs1596376124
NM_001134407.3(GRIN2A):c.3363T>C (p.Asp1121=)
NM_001134407.3(GRIN2A):c.3365G>A (p.Gly1122Asp) rs760885908
NM_001134407.3(GRIN2A):c.3375G>A (p.Glu1125=)
NM_001134407.3(GRIN2A):c.3377C>G (p.Pro1126Arg) rs1230714956
NM_001134407.3(GRIN2A):c.3384C>T (p.Phe1128=) rs1596376035
NM_001134407.3(GRIN2A):c.3388T>C (p.Leu1130=)
NM_001134407.3(GRIN2A):c.3391G>T (p.Asp1131Tyr) rs1243412120
NM_001134407.3(GRIN2A):c.33G>A (p.Val11=)
NM_001134407.3(GRIN2A):c.3402G>C (p.Gln1134His) rs2141132634
NM_001134407.3(GRIN2A):c.3410A>T (p.Glu1137Val)
NM_001134407.3(GRIN2A):c.3413A>T (p.Asn1138Ile) rs367543135
NM_001134407.3(GRIN2A):c.3416T>G (p.Val1139Gly)
NM_001134407.3(GRIN2A):c.3419C>T (p.Thr1140Ile)
NM_001134407.3(GRIN2A):c.3432C>A (p.Asn1144Lys)
NM_001134407.3(GRIN2A):c.3443C>T (p.Pro1148Leu) rs140536516
NM_001134407.3(GRIN2A):c.3444G>T (p.Pro1148=)
NM_001134407.3(GRIN2A):c.3447C>T (p.Asp1149=) rs2141132170
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_001134407.3(GRIN2A):c.3476G>A (p.Arg1159His) rs534440095
NM_001134407.3(GRIN2A):c.3476G>T (p.Arg1159Leu) rs534440095
NM_001134407.3(GRIN2A):c.3483G>A (p.Gly1161=)
NM_001134407.3(GRIN2A):c.3492G>A (p.Thr1164=) rs1330743809
NM_001134407.3(GRIN2A):c.3505C>G (p.Arg1169Gly)
NM_001134407.3(GRIN2A):c.3513C>T (p.Pro1171=) rs1344421124
NM_001134407.3(GRIN2A):c.3531G>A (p.Gly1177=) rs777800482
NM_001134407.3(GRIN2A):c.3531G>T (p.Gly1177=)
NM_001134407.3(GRIN2A):c.3543C>T (p.Asn1181=)
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr) rs375160358
NM_001134407.3(GRIN2A):c.3558C>G (p.Leu1186=)
NM_001134407.3(GRIN2A):c.3567G>A (p.Lys1189=)
NM_001134407.3(GRIN2A):c.3571T>G (p.Phe1191Val) rs562833714
NM_001134407.3(GRIN2A):c.3576C>G (p.Thr1192=) rs768172880
NM_001134407.3(GRIN2A):c.3597G>C (p.Pro1199=) rs368418052
NM_001134407.3(GRIN2A):c.3601A>G (p.Ser1201Gly) rs748338352
NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)
NM_001134407.3(GRIN2A):c.360C>T (p.Thr120=)
NM_001134407.3(GRIN2A):c.3616C>A (p.Arg1206=)
NM_001134407.3(GRIN2A):c.3621C>T (p.Tyr1207=)
NM_001134407.3(GRIN2A):c.3630C>T (p.Asn1210=) rs750892541
NM_001134407.3(GRIN2A):c.3633C>T (p.Ser1211=)
NM_001134407.3(GRIN2A):c.3635C>A (p.Thr1212Lys)
NM_001134407.3(GRIN2A):c.363C>T (p.Phe121=)
NM_001134407.3(GRIN2A):c.3660C>T (p.Asn1220=) rs945221421
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_001134407.3(GRIN2A):c.3669C>T (p.Thr1223=)
NM_001134407.3(GRIN2A):c.366C>T (p.Val122=)
NM_001134407.3(GRIN2A):c.3687C>A (p.Thr1229=) rs1060504863
NM_001134407.3(GRIN2A):c.369C>T (p.Pro123=) rs2050228632
NM_001134407.3(GRIN2A):c.3718C>T (p.Leu1240=)
NM_001134407.3(GRIN2A):c.3720G>A (p.Leu1240=)
NM_001134407.3(GRIN2A):c.3744C>T (p.Ile1248=) rs1259213207
NM_001134407.3(GRIN2A):c.3747T>C (p.Asp1249=) rs2141129751
NM_001134407.3(GRIN2A):c.3753C>T (p.Asp1251=) rs2141129726
NM_001134407.3(GRIN2A):c.3756G>C (p.Gln1252His)
NM_001134407.3(GRIN2A):c.3785C>G (p.Thr1262Ser)
NM_001134407.3(GRIN2A):c.3786C>G (p.Thr1262=)
NM_001134407.3(GRIN2A):c.3786C>T (p.Thr1262=)
NM_001134407.3(GRIN2A):c.3795G>A (p.Gln1265=) rs147556384
NM_001134407.3(GRIN2A):c.3799T>C (p.Tyr1267His) rs2141129483
NM_001134407.3(GRIN2A):c.3817C>A (p.Gln1273Lys) rs762745084
NM_001134407.3(GRIN2A):c.3819G>A (p.Gln1273=) rs1900707840
NM_001134407.3(GRIN2A):c.3825T>C (p.Asn1275=) rs2141129262
NM_001134407.3(GRIN2A):c.3843G>A (p.Lys1281=)
NM_001134407.3(GRIN2A):c.3845A>G (p.Asn1282Ser)
NM_001134407.3(GRIN2A):c.3846C>T (p.Asn1282=) rs1596374956
NM_001134407.3(GRIN2A):c.3849G>A (p.Lys1283=) rs1596374942
NM_001134407.3(GRIN2A):c.3850C>T (p.Leu1284=) rs1267415988
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met) rs367543132
NM_001134407.3(GRIN2A):c.3861C>T (p.Ser1287=) rs1447951387
NM_001134407.3(GRIN2A):c.3871T>A (p.Ser1291Thr)
NM_001134407.3(GRIN2A):c.3872C>T (p.Ser1291Phe)
NM_001134407.3(GRIN2A):c.3877G>C (p.Asp1293His)
NM_001134407.3(GRIN2A):c.3904C>T (p.Leu1302=)
NM_001134407.3(GRIN2A):c.390C>T (p.Gly130=) rs2142387516
NM_001134407.3(GRIN2A):c.3915C>G (p.Ser1305Arg) rs199830697
NM_001134407.3(GRIN2A):c.3915C>T (p.Ser1305=) rs199830697
NM_001134407.3(GRIN2A):c.3926G>T (p.Arg1309Leu) rs1900699130
NM_001134407.3(GRIN2A):c.3927G>C (p.Arg1309=)
NM_001134407.3(GRIN2A):c.3930C>T (p.Ser1310=)
NM_001134407.3(GRIN2A):c.3935G>C (p.Ser1312Thr)
NM_001134407.3(GRIN2A):c.3939C>G (p.Leu1313=) rs2141128266
NM_001134407.3(GRIN2A):c.3952C>G (p.Arg1318Gly) rs774419037
NM_001134407.3(GRIN2A):c.3952C>T (p.Arg1318Trp) rs774419037
NM_001134407.3(GRIN2A):c.3960G>A (p.Leu1320=)
NM_001134407.3(GRIN2A):c.3978C>G (p.Gly1326=) rs368066766
NM_001134407.3(GRIN2A):c.3978C>T (p.Gly1326=)
NM_001134407.3(GRIN2A):c.397A>G (p.Met133Val) rs77288930
NM_001134407.3(GRIN2A):c.3996C>A (p.Pro1332=)
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
NM_001134407.3(GRIN2A):c.4011G>A (p.Ser1337=) rs748586367
NM_001134407.3(GRIN2A):c.4014G>A (p.Gly1338=) rs61758997
NM_001134407.3(GRIN2A):c.4017A>T (p.Lys1339Asn)
NM_001134407.3(GRIN2A):c.4022G>T (p.Ser1341Ile) rs757898035
NM_001134407.3(GRIN2A):c.4023C>G (p.Ser1341Arg)
NM_001134407.3(GRIN2A):c.4023C>T (p.Ser1341=)
NM_001134407.3(GRIN2A):c.4026C>T (p.Ser1342=)
NM_001134407.3(GRIN2A):c.4042C>T (p.Leu1348=)
NM_001134407.3(GRIN2A):c.4047G>A (p.Glu1349=)
NM_001134407.3(GRIN2A):c.404T>C (p.Met135Thr)
NM_001134407.3(GRIN2A):c.4050C>T (p.Asp1350=)
NM_001134407.3(GRIN2A):c.4057A>C (p.Arg1353=) rs1900689042
NM_001134407.3(GRIN2A):c.4085C>G (p.Thr1362Ser)
NM_001134407.3(GRIN2A):c.4095C>T (p.Asn1365=)
NM_001134407.3(GRIN2A):c.4110C>A (p.Ser1370=) rs2141126546
NM_001134407.3(GRIN2A):c.4126C>T (p.Arg1376Cys) rs1426934537
NM_001134407.3(GRIN2A):c.414+15T>C
NM_001134407.3(GRIN2A):c.414+16G>A
NM_001134407.3(GRIN2A):c.414+8C>T
NM_001134407.3(GRIN2A):c.4140G>C (p.Gly1380=) rs373901698
NM_001134407.3(GRIN2A):c.415-15T>C rs1057522859
NM_001134407.3(GRIN2A):c.415-4G>T rs1596345068
NM_001134407.3(GRIN2A):c.415-9C>T rs747828140
NM_001134407.3(GRIN2A):c.4164A>G (p.Lys1388=)
NM_001134407.3(GRIN2A):c.4184C>A (p.Ala1395Glu) rs199696775
NM_001134407.3(GRIN2A):c.4195A>G (p.Ser1399Gly)
NM_001134407.3(GRIN2A):c.4205G>C (p.Arg1402Pro) rs74935155
NM_001134407.3(GRIN2A):c.4206G>T (p.Arg1402=) rs2141125554
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=) rs367543126
NM_001134407.3(GRIN2A):c.420G>T (p.Pro140=)
NM_001134407.3(GRIN2A):c.4220C>T (p.Ser1407Leu)
NM_001134407.3(GRIN2A):c.4223C>T (p.Thr1408Met)
NM_001134407.3(GRIN2A):c.422C>A (p.Thr141Lys) rs78631453
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4234T>C (p.Cys1412Arg) rs1262702313
NM_001134407.3(GRIN2A):c.4247G>A (p.Ser1416Asn) rs377712891
NM_001134407.3(GRIN2A):c.4247G>T (p.Ser1416Ile) rs377712891
NM_001134407.3(GRIN2A):c.4252G>T (p.Gly1418Cys)
NM_001134407.3(GRIN2A):c.4266G>A (p.Val1422=)
NM_001134407.3(GRIN2A):c.4267T>G (p.Tyr1423Asp) rs1900671651
NM_001134407.3(GRIN2A):c.4274C>T (p.Ser1425Leu)
NM_001134407.3(GRIN2A):c.42C>G (p.Ala14=) rs2142391305
NM_001134407.3(GRIN2A):c.4314G>A (p.Met1438Ile)
NM_001134407.3(GRIN2A):c.4318T>C (p.Ser1440Pro) rs1596373985
NM_001134407.3(GRIN2A):c.4323C>G (p.Thr1441=) rs1246423634
NM_001134407.3(GRIN2A):c.4326C>T (p.Pro1442=)
NM_001134407.3(GRIN2A):c.432C>T (p.Phe144=)
NM_001134407.3(GRIN2A):c.4343G>A (p.Cys1448Tyr)
NM_001134407.3(GRIN2A):c.4356C>T (p.Arg1452=) rs140093291
NM_001134407.3(GRIN2A):c.4357G>T (p.Val1453Leu)
NM_001134407.3(GRIN2A):c.4379T>C (p.Ile1460Thr) rs1394154823
NM_001134407.3(GRIN2A):c.4380C>T (p.Ile1460=)
NM_001134407.3(GRIN2A):c.440T>C (p.Phe147Ser)
NM_001134407.3(GRIN2A):c.465C>T (p.Ala155=)
NM_001134407.3(GRIN2A):c.468G>C (p.Thr156=)
NM_001134407.3(GRIN2A):c.48G>A (p.Leu16=)
NM_001134407.3(GRIN2A):c.498C>T (p.Asp166=)
NM_001134407.3(GRIN2A):c.507C>G (p.Val169=)
NM_001134407.3(GRIN2A):c.522C>A (p.Thr174=) rs771962690
NM_001134407.3(GRIN2A):c.531C>T (p.Phe177=) rs2141632501
NM_001134407.3(GRIN2A):c.558C>T (p.Phe186=)
NM_001134407.3(GRIN2A):c.566C>T (p.Thr189Ile) rs1377082706
NM_001134407.3(GRIN2A):c.567C>G (p.Thr189=)
NM_001134407.3(GRIN2A):c.579C>G (p.Asn193Lys)
NM_001134407.3(GRIN2A):c.595G>A (p.Asp199Asn) rs1200624532
NM_001134407.3(GRIN2A):c.600G>A (p.Met200Ile)
NM_001134407.3(GRIN2A):c.603G>C (p.Gln201His)
NM_001134407.3(GRIN2A):c.609G>A (p.Val203=) rs2141631974
NM_001134407.3(GRIN2A):c.616C>T (p.Leu206=)
NM_001134407.3(GRIN2A):c.617T>C (p.Leu206Pro) rs2141631923
NM_001134407.3(GRIN2A):c.618G>A (p.Leu206=)
NM_001134407.3(GRIN2A):c.61C>G (p.Pro21Ala) rs1285592726
NM_001134407.3(GRIN2A):c.629T>C (p.Phe210Ser)
NM_001134407.3(GRIN2A):c.633G>C (p.Glu211Asp) rs771580780
NM_001134407.3(GRIN2A):c.63G>C (p.Pro21=) rs1060504865
NM_001134407.3(GRIN2A):c.668A>T (p.His223Leu) rs2044764460
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del) rs775540481
NM_001134407.3(GRIN2A):c.681C>A (p.Ile227=) rs2141631520
NM_001134407.3(GRIN2A):c.685C>G (p.Leu229Val)
NM_001134407.3(GRIN2A):c.69G>A (p.Pro23=)
NM_001134407.3(GRIN2A):c.720G>A (p.Leu240=) rs1041367014
NM_001134407.3(GRIN2A):c.720G>C (p.Leu240=)
NM_001134407.3(GRIN2A):c.750G>C (p.Gly250=)
NM_001134407.3(GRIN2A):c.777C>T (p.Ser259=)
NM_001134407.3(GRIN2A):c.794C>T (p.Thr265Met) rs747214620
NM_001134407.3(GRIN2A):c.799C>A (p.Leu267Ile) rs780286303
NM_001134407.3(GRIN2A):c.822G>A (p.Ser274=) rs759344136
NM_001134407.3(GRIN2A):c.828C>G (p.Leu276=) rs752295285
NM_001134407.3(GRIN2A):c.846T>C (p.Asp282=) rs2141630353
NM_001134407.3(GRIN2A):c.849C>T (p.Asp283=)
NM_001134407.3(GRIN2A):c.858C>T (p.Tyr286=)
NM_001134407.3(GRIN2A):c.861C>T (p.Ser287=)
NM_001134407.3(GRIN2A):c.879G>A (p.Arg293=) rs2141630122
NM_001134407.3(GRIN2A):c.90T>C (p.Gly30=) rs1204355370
NM_001134407.3(GRIN2A):c.916A>G (p.Met306Val)
NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu) rs778386295
NM_001134407.3(GRIN2A):c.926A>G (p.Lys309Arg)
NM_001134407.3(GRIN2A):c.927G>A (p.Lys309=)
NM_001134407.3(GRIN2A):c.933C>T (p.Ser311=)
NM_001134407.3(GRIN2A):c.93C>T (p.Pro31=)
NM_001134407.3(GRIN2A):c.94C>T (p.Pro32Ser)
NM_001134407.3(GRIN2A):c.954C>G (p.Ala318=) rs2044755576
NM_001134407.3(GRIN2A):c.960C>T (p.Cys320=)
NM_001134407.3(GRIN2A):c.96C>A (p.Pro32=)
NM_001134407.3(GRIN2A):c.979C>A (p.Pro327Thr)
NM_001134407.3(GRIN2A):c.982G>C (p.Glu328Gln) rs1300381776
NM_001134407.3(GRIN2A):c.984G>A (p.Glu328=)
NM_001199107.2(TBC1D24):c.*2540del rs58172016
NM_001199107.2(TBC1D24):c.*2850_*2851del rs376511845
NM_001199107.2(TBC1D24):c.*36G>A rs73490289
NM_001199107.2(TBC1D24):c.*3959G>A rs550975150
NM_001199107.2(TBC1D24):c.1002C>G (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=) rs961839071
NM_001199107.2(TBC1D24):c.1026G>C (p.Ser342=) rs370244846
NM_001199107.2(TBC1D24):c.1074C>G (p.Pro358=)
NM_001199107.2(TBC1D24):c.1086C>T (p.Ala362=)
NM_001199107.2(TBC1D24):c.1095G>A (p.Gln365=) rs2141874394
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=) rs1555501404
NM_001199107.2(TBC1D24):c.1116C>A (p.Ser372=)
NM_001199107.2(TBC1D24):c.1116C>T (p.Ser372=)
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=) rs2141874428
NM_001199107.2(TBC1D24):c.1143-5G>T rs754105574
NM_001199107.2(TBC1D24):c.1143-9C>G
NM_001199107.2(TBC1D24):c.1167T>C (p.His389=) rs2065771222
NM_001199107.2(TBC1D24):c.1180T>C (p.Leu394=)
NM_001199107.2(TBC1D24):c.1206+11G>C
NM_001199107.2(TBC1D24):c.1206+14C>T
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[4] rs777798547
NM_001199107.2(TBC1D24):c.1207-20C>A rs757347903
NM_001199107.2(TBC1D24):c.1207-20C>T
NM_001199107.2(TBC1D24):c.1207-6C>T rs749626631
NM_001199107.2(TBC1D24):c.1207-7C>T rs1348586468
NM_001199107.2(TBC1D24):c.1209G>T (p.Val403=)
NM_001199107.2(TBC1D24):c.1221C>T (p.Tyr407=) rs2065775888
NM_001199107.2(TBC1D24):c.1269C>T (p.Gly423=)
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) rs377748101
NM_001199107.2(TBC1D24):c.1302+19C>T
NM_001199107.2(TBC1D24):c.1303-18A>G rs2141876962
NM_001199107.2(TBC1D24):c.1303-5C>G rs1468286638
NM_001199107.2(TBC1D24):c.1303-7A>G rs2141876976
NM_001199107.2(TBC1D24):c.1317G>A (p.Val439=)
NM_001199107.2(TBC1D24):c.1335G>C (p.Val445=)
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1347C>T (p.His449=)
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) rs200641000
NM_001199107.2(TBC1D24):c.1371C>G (p.Pro457=)
NM_001199107.2(TBC1D24):c.1374G>A (p.Leu458=)
NM_001199107.2(TBC1D24):c.1407C>T (p.His469=) rs2141877201
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=) rs761742075
NM_001199107.2(TBC1D24):c.144C>T (p.His48=) rs765396824
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=) rs373862230
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1506C>T (p.Gly502=) rs1302904331
NM_001199107.2(TBC1D24):c.1525+10A>G
NM_001199107.2(TBC1D24):c.1539C>T (p.Gly513=) rs1466557404
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=) rs1555501692
NM_001199107.2(TBC1D24):c.1608G>A (p.Gln536=)
NM_001199107.2(TBC1D24):c.1620C>G (p.Ser540=)
NM_001199107.2(TBC1D24):c.1623G>A (p.Glu541=) rs1596973590
NM_001199107.2(TBC1D24):c.1629C>T (p.Phe543=)
NM_001199107.2(TBC1D24):c.162G>A (p.Val54=)
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1644G>A (p.Val548=)
NM_001199107.2(TBC1D24):c.1668T>C (p.Pro556=)
NM_001199107.2(TBC1D24):c.1671C>T (p.Asp557=)
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=) rs878854271
NM_001199107.2(TBC1D24):c.216C>T (p.Ser72=) rs749814291
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=) rs2141871200
NM_001199107.2(TBC1D24):c.274C>T (p.Leu92=)
NM_001199107.2(TBC1D24):c.291C>T (p.Asp97=)
NM_001199107.2(TBC1D24):c.303G>A (p.Val101=)
NM_001199107.2(TBC1D24):c.321T>C (p.Asn107=)
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.339C>A (p.Ala113=)
NM_001199107.2(TBC1D24):c.348G>A (p.Lys116=)
NM_001199107.2(TBC1D24):c.354C>G (p.Leu118=) rs2141871420
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=) rs754479878
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=) rs371937830
NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=)
NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=) rs2065741660
NM_001199107.2(TBC1D24):c.417C>A (p.Ala139=)
NM_001199107.2(TBC1D24):c.418C>T (p.Leu140=)
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=) rs776944981
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=) rs2065742840
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=) rs1596968205
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=)
NM_001199107.2(TBC1D24):c.489C>T (p.Asp163=)
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=) rs529104933
NM_001199107.2(TBC1D24):c.555C>T (p.Asp185=)
NM_001199107.2(TBC1D24):c.57C>A (p.Ile19=)
NM_001199107.2(TBC1D24):c.600C>T (p.Ala200=)
NM_001199107.2(TBC1D24):c.612T>C (p.Asp204=)
NM_001199107.2(TBC1D24):c.624C>T (p.Val208=)
NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=)
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.717G>A (p.Val239=)
NM_001199107.2(TBC1D24):c.777G>A (p.Pro259=)
NM_001199107.2(TBC1D24):c.777G>T (p.Pro259=)
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.804C>T (p.Asp268=)
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=) rs796053402
NM_001199107.2(TBC1D24):c.831G>A (p.Ala277=)
NM_001199107.2(TBC1D24):c.840G>A (p.Val280=)
NM_001199107.2(TBC1D24):c.846T>C (p.Pro282=)
NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=) rs769201984
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=) rs1328290571
NM_001199107.2(TBC1D24):c.930C>T (p.Ala310=)
NM_001199107.2(TBC1D24):c.954G>A (p.Val318=)
NM_001199107.2(TBC1D24):c.965+11G>C rs568663296
NM_001199107.2(TBC1D24):c.965+15G>T
NM_001199107.2(TBC1D24):c.965+16C>G rs2065750449
NM_001199107.2(TBC1D24):c.965+16C>T
NM_001199107.2(TBC1D24):c.965+17C>T
NM_001199107.2(TBC1D24):c.965+8G>T rs372247100
NM_001199107.2(TBC1D24):c.966-11C>T
NM_001199107.2(TBC1D24):c.966-12_966-10del rs2065755511
NM_001199107.2(TBC1D24):c.966-5T>C
NM_001199107.2(TBC1D24):c.972A>G (p.Ser324=)
NM_001199107.2(TBC1D24):c.983+15_983+16del rs1064794673
NM_001199107.2(TBC1D24):c.983+19C>G rs2141873600
NM_001199107.2(TBC1D24):c.984-11G>A rs1297656612
NM_001199107.2(TBC1D24):c.984-16T>C
NM_001199107.2(TBC1D24):c.984-5C>T rs535021783
NM_001199107.2(TBC1D24):c.984-7C>T rs1432999070
NM_001271.4(CHD2):c.1008A>G (p.Lys336=)
NM_001271.4(CHD2):c.1011A>G (p.Lys337=)
NM_001271.4(CHD2):c.1032A>G (p.Lys344=)
NM_001271.4(CHD2):c.1052+12A>G
NM_001271.4(CHD2):c.1052+15A>G
NM_001271.4(CHD2):c.1052+16T>C
NM_001271.4(CHD2):c.1052+17G>A
NM_001271.4(CHD2):c.1053-11C>G rs2141790964
NM_001271.4(CHD2):c.1053-17G>A
NM_001271.4(CHD2):c.1080A>G (p.Val360=)
NM_001271.4(CHD2):c.111G>A (p.Ser37=)
NM_001271.4(CHD2):c.1125A>G (p.Lys375=)
NM_001271.4(CHD2):c.1153+4_1153+7dup
NM_001271.4(CHD2):c.1153+9A>G
NM_001271.4(CHD2):c.1154-3del rs760631104
NM_001271.4(CHD2):c.1154-5T>A rs767803710
NM_001271.4(CHD2):c.1155T>C (p.Ala385=)
NM_001271.4(CHD2):c.1164A>G (p.Thr388=)
NM_001271.4(CHD2):c.1198+12A>G
NM_001271.4(CHD2):c.1198+18T>C
NM_001271.4(CHD2):c.1199-12T>A rs1474100681
NM_001271.4(CHD2):c.1199-20A>T
NM_001271.4(CHD2):c.1199-8T>C rs2141795407
NM_001271.4(CHD2):c.1203T>A (p.His401Gln) rs1567137019
NM_001271.4(CHD2):c.1203T>C (p.His401=) rs1567137019
NM_001271.4(CHD2):c.1225A>C (p.Asn409His) rs531251618
NM_001271.4(CHD2):c.1260C>G (p.Leu420=) rs772268139
NM_001271.4(CHD2):c.1272G>A (p.Glu424=)
NM_001271.4(CHD2):c.1284A>G (p.Glu428=) rs2141795543
NM_001271.4(CHD2):c.1293C>T (p.Ala431=)
NM_001271.4(CHD2):c.1347C>T (p.Asn449=)
NM_001271.4(CHD2):c.1377+12G>T
NM_001271.4(CHD2):c.1377+16G>T rs1182159823
NM_001271.4(CHD2):c.1378-14C>T
NM_001271.4(CHD2):c.1378-15G>A
NM_001271.4(CHD2):c.1378-15G>C rs2053515097
NM_001271.4(CHD2):c.1380C>T (p.Ala460=)
NM_001271.4(CHD2):c.1502+18A>G
NM_001271.4(CHD2):c.1502+19G>T
NM_001271.4(CHD2):c.1503-10C>T
NM_001271.4(CHD2):c.1503-19T>C rs1390489313
NM_001271.4(CHD2):c.1503-20T>C
NM_001271.4(CHD2):c.1521T>G (p.Leu507=) rs2141811515
NM_001271.4(CHD2):c.1524T>G (p.Ala508=)
NM_001271.4(CHD2):c.1576C>T (p.Leu526=) rs2141811552
NM_001271.4(CHD2):c.1581C>T (p.Phe527=) rs2053579395
NM_001271.4(CHD2):c.158C>T (p.Ser53Leu) rs368237024
NM_001271.4(CHD2):c.159G>T (p.Ser53=)
NM_001271.4(CHD2):c.1602C>T (p.Gly534=) rs2141811584
NM_001271.4(CHD2):c.1629C>G (p.Ser543=)
NM_001271.4(CHD2):c.1632C>T (p.Thr544=)
NM_001271.4(CHD2):c.1641A>G (p.Ser547=)
NM_001271.4(CHD2):c.1686G>C (p.Val562=) rs2141811679
NM_001271.4(CHD2):c.1719+18G>T
NM_001271.4(CHD2):c.171T>C (p.Ser57=) rs2053018449
NM_001271.4(CHD2):c.171T>G (p.Ser57=)
NM_001271.4(CHD2):c.1720-17A>C
NM_001271.4(CHD2):c.1720-17A>G
NM_001271.4(CHD2):c.1720-7C>T
NM_001271.4(CHD2):c.1720-8T>C rs2053606565
NM_001271.4(CHD2):c.1723C>A (p.Arg575=)
NM_001271.4(CHD2):c.1756A>C (p.Arg586=) rs1596406455
NM_001271.4(CHD2):c.1759T>C (p.Leu587=)
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr) rs1060503521
NM_001271.4(CHD2):c.1791G>A (p.Glu597=)
NM_001271.4(CHD2):c.1809+15T>A
NM_001271.4(CHD2):c.1810-20C>G
NM_001271.4(CHD2):c.1815G>A (p.Val605=)
NM_001271.4(CHD2):c.1836C>G (p.Ala612=)
NM_001271.4(CHD2):c.1881T>C (p.Ser627=) rs2141816554
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys) rs2053619310
NM_001271.4(CHD2):c.1920T>C (p.His640=) rs755517341
NM_001271.4(CHD2):c.1935G>A (p.Thr645=) rs779686192
NM_001271.4(CHD2):c.1956C>A (p.Ser652=)
NM_001271.4(CHD2):c.1986T>C (p.Phe662=)
NM_001271.4(CHD2):c.2000+13C>T
NM_001271.4(CHD2):c.2000+15G>C
NM_001271.4(CHD2):c.2000+9C>T
NM_001271.4(CHD2):c.2001-20C>G
NM_001271.4(CHD2):c.2001-5C>G
NM_001271.4(CHD2):c.2019T>C (p.Asp673=)
NM_001271.4(CHD2):c.2043G>T (p.Gly681=)
NM_001271.4(CHD2):c.204C>T (p.Ser68=)
NM_001271.4(CHD2):c.2067T>G (p.Leu689=)
NM_001271.4(CHD2):c.2070T>C (p.His690=)
NM_001271.4(CHD2):c.2076G>T (p.Val692=)
NM_001271.4(CHD2):c.2077C>T (p.Leu693=)
NM_001271.4(CHD2):c.2097G>T (p.Arg699=)
NM_001271.4(CHD2):c.2112T>C (p.Asp704=)
NM_001271.4(CHD2):c.2118G>A (p.Glu706=) rs763045714
NM_001271.4(CHD2):c.2124C>T (p.Ser708=)
NM_001271.4(CHD2):c.2189+15G>C
NM_001271.4(CHD2):c.2189+19T>C
NM_001271.4(CHD2):c.2189+8C>G rs1486555733
NM_001271.4(CHD2):c.2189+8C>T rs1486555733
NM_001271.4(CHD2):c.2189+8_2189+19del
NM_001271.4(CHD2):c.219C>A (p.Ser73=)
NM_001271.4(CHD2):c.2211C>T (p.Tyr737=)
NM_001271.4(CHD2):c.2223C>T (p.Ala741=)
NM_001271.4(CHD2):c.2238C>A (p.Gly746=)
NM_001271.4(CHD2):c.2244A>G (p.Thr748=) rs760029815
NM_001271.4(CHD2):c.225C>T (p.Ser75=) rs144667627
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
NM_001271.4(CHD2):c.2280A>G (p.Lys760=)
NM_001271.4(CHD2):c.2310C>T (p.Pro770=)
NM_001271.4(CHD2):c.231A>C (p.Pro77=)
NM_001271.4(CHD2):c.2337A>C (p.Gly779=) rs138084718
NM_001271.4(CHD2):c.2349T>C (p.Leu783=) rs1285009362
NM_001271.4(CHD2):c.234C>T (p.Val78=)
NM_001271.4(CHD2):c.2352+10del rs1596419038
NM_001271.4(CHD2):c.2352+15A>G
NM_001271.4(CHD2):c.2352+7_2352+9del rs775279701
NM_001271.4(CHD2):c.2353-15C>T
NM_001271.4(CHD2):c.2353-18T>C
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
NM_001271.4(CHD2):c.2362A>C (p.Arg788=)
NM_001271.4(CHD2):c.237C>T (p.Leu79=)
NM_001271.4(CHD2):c.2403A>G (p.Thr801=) rs2141836198
NM_001271.4(CHD2):c.240A>G (p.Pro80=) rs2141746164
NM_001271.4(CHD2):c.2412A>T (p.Arg804=) rs2141836205
NM_001271.4(CHD2):c.2418G>A (p.Arg806=) rs1330473840
NM_001271.4(CHD2):c.245C>G (p.Ala82Gly) rs548561366
NM_001271.4(CHD2):c.2475A>G (p.Glu825=)
NM_001271.4(CHD2):c.2502C>T (p.Phe834=) rs1461571191
NM_001271.4(CHD2):c.2505+16T>A
NM_001271.4(CHD2):c.2505+4A>G rs767309501
NM_001271.4(CHD2):c.2505+9A>G
NM_001271.4(CHD2):c.2506-14G>T
NM_001271.4(CHD2):c.2506-17G>A rs2141839109
NM_001271.4(CHD2):c.2506-4A>G rs1259027522
NM_001271.4(CHD2):c.2511G>T (p.Leu837=) rs2053887597
NM_001271.4(CHD2):c.2535C>A (p.Ile845=)
NM_001271.4(CHD2):c.2544G>A (p.Gln848=) rs2053887752
NM_001271.4(CHD2):c.2547A>G (p.Ala849=) rs1596423292
NM_001271.4(CHD2):c.2571G>A (p.Gly857=) rs2141839178
NM_001271.4(CHD2):c.2577+15G>A
NM_001271.4(CHD2):c.2577+7T>G
NM_001271.4(CHD2):c.2577+8A>G rs867398061
NM_001271.4(CHD2):c.2577+9T>C
NM_001271.4(CHD2):c.2592G>A (p.Leu864=) rs2141843178
NM_001271.4(CHD2):c.2595C>G (p.Leu865=) rs1478427410
NM_001271.4(CHD2):c.2614C>T (p.Leu872=) rs2141843184
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
NM_001271.4(CHD2):c.2646C>T (p.Val882=)
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val) rs2053935304
NM_001271.4(CHD2):c.2682C>T (p.Asp894=)
NM_001271.4(CHD2):c.2700A>G (p.Arg900=)
NM_001271.4(CHD2):c.2727+16C>T
NM_001271.4(CHD2):c.2727+20T>A
NM_001271.4(CHD2):c.2727+7A>G rs1408693780
NM_001271.4(CHD2):c.2727+9G>A rs1245946446
NM_001271.4(CHD2):c.2728-12del
NM_001271.4(CHD2):c.2728-13C>A
NM_001271.4(CHD2):c.2728-20A>T
NM_001271.4(CHD2):c.2728-8T>C rs762774089
NM_001271.4(CHD2):c.2743T>C (p.Leu915=) rs112279925
NM_001271.4(CHD2):c.2847G>A (p.Thr949=) rs756812749
NM_001271.4(CHD2):c.2876+10A>G rs2053946994
NM_001271.4(CHD2):c.2876+7G>T rs2141844294
NM_001271.4(CHD2):c.2877-17A>G rs764609850
NM_001271.4(CHD2):c.2877-4A>G
NM_001271.4(CHD2):c.2877-5C>T rs1248829265
NM_001271.4(CHD2):c.294+19A>G
NM_001271.4(CHD2):c.294+20G>A
NM_001271.4(CHD2):c.294+7A>G rs1351696136
NM_001271.4(CHD2):c.295-12_295-11del
NM_001271.4(CHD2):c.2955G>C (p.Gly985=)
NM_001271.4(CHD2):c.2973+18_2973+23del
NM_001271.4(CHD2):c.2973+8A>T
NM_001271.4(CHD2):c.2973+9C>T rs1596431717
NM_001271.4(CHD2):c.2974-10G>A
NM_001271.4(CHD2):c.2974-4T>C
NM_001271.4(CHD2):c.2982T>C (p.Asp994=) rs372974686
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp) rs758134774
NM_001271.4(CHD2):c.3000G>A (p.Arg1000=)
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=) rs2141847120
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=) rs768946382
NM_001271.4(CHD2):c.3066+19G>A
NM_001271.4(CHD2):c.3066+20A>G rs946119641
NM_001271.4(CHD2):c.3067-10C>G rs2141850547
NM_001271.4(CHD2):c.3078T>C (p.Phe1026=) rs2141850566
NM_001271.4(CHD2):c.3111G>A (p.Glu1037=) rs2141850590
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu) rs150268140
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3153A>G (p.Gln1051=) rs1312097410
NM_001271.4(CHD2):c.3165A>G (p.Val1055=) rs758991890
NM_001271.4(CHD2):c.3168G>A (p.Glu1056=) rs1555443360
NM_001271.4(CHD2):c.3168G>T (p.Glu1056Asp) rs1555443360
NM_001271.4(CHD2):c.3237+19A>G
NM_001271.4(CHD2):c.3237+20G>A
NM_001271.4(CHD2):c.3238-12G>A rs1276545339
NM_001271.4(CHD2):c.3238-16C>T rs2054030766
NM_001271.4(CHD2):c.3238-5C>T rs1555443468
NM_001271.4(CHD2):c.3264C>T (p.Asp1088=)
NM_001271.4(CHD2):c.3265A>C (p.Thr1089Pro) rs1596437938
NM_001271.4(CHD2):c.3285C>G (p.Ala1095=)
NM_001271.4(CHD2):c.3298G>C (p.Ala1100Pro)
NM_001271.4(CHD2):c.3303T>C (p.Ser1101=)
NM_001271.4(CHD2):c.3306G>A (p.Glu1102=)
NM_001271.4(CHD2):c.3314C>T (p.Thr1105Met) rs1567152717
NM_001271.4(CHD2):c.331C>A (p.Arg111=) rs1040550014
NM_001271.4(CHD2):c.3333C>T (p.Asp1111=)
NM_001271.4(CHD2):c.3345G>A (p.Lys1115=) rs2054031847
NM_001271.4(CHD2):c.3360G>A (p.Pro1120=)
NM_001271.4(CHD2):c.3381C>T (p.Leu1127=)
NM_001271.4(CHD2):c.3387G>A (p.Glu1129=)
NM_001271.4(CHD2):c.3413+13T>A
NM_001271.4(CHD2):c.3413+16G>T
NM_001271.4(CHD2):c.3414-11C>T rs2054119012
NM_001271.4(CHD2):c.3414-20T>C
NM_001271.4(CHD2):c.3414-5C>T
NM_001271.4(CHD2):c.3414-5_3414-3del
NM_001271.4(CHD2):c.3417C>T (p.Phe1139=)
NM_001271.4(CHD2):c.3455+11T>C rs2141859897
NM_001271.4(CHD2):c.3455+12G>A
NM_001271.4(CHD2):c.3455+9A>G rs199958087
NM_001271.4(CHD2):c.3456-15T>C
NM_001271.4(CHD2):c.3456-19C>G rs780531827
NM_001271.4(CHD2):c.3456-8C>T rs1394301788
NM_001271.4(CHD2):c.346A>C (p.Arg116=)
NM_001271.4(CHD2):c.3471A>G (p.Ala1157=)
NM_001271.4(CHD2):c.3486G>A (p.Leu1162=) rs1229609376
NM_001271.4(CHD2):c.3486G>C (p.Leu1162=)
NM_001271.4(CHD2):c.3519G>C (p.Leu1173=) rs377400826
NM_001271.4(CHD2):c.3522T>C (p.Gly1174=)
NM_001271.4(CHD2):c.3526C>T (p.Leu1176=)
NM_001271.4(CHD2):c.3537C>T (p.Asn1179=)
NM_001271.4(CHD2):c.3549A>G (p.Ser1183=)
NM_001271.4(CHD2):c.3576G>A (p.Leu1192=)
NM_001271.4(CHD2):c.3579A>G (p.Lys1193=) rs2141861699
NM_001271.4(CHD2):c.3595+14G>A
NM_001271.4(CHD2):c.3595+9A>G
NM_001271.4(CHD2):c.3596-10T>C
NM_001271.4(CHD2):c.3596-10T>G rs1596446956
NM_001271.4(CHD2):c.3596-6T>C
NM_001271.4(CHD2):c.3606A>G (p.Pro1202=) rs2054196905
NM_001271.4(CHD2):c.360G>A (p.Ser120=) rs1409764161
NM_001271.4(CHD2):c.3613A>C (p.Arg1205=)
NM_001271.4(CHD2):c.3684G>A (p.Glu1228=) rs766134171
NM_001271.4(CHD2):c.3687T>C (p.Phe1229=)
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg) rs2054197477
NM_001271.4(CHD2):c.3705T>C (p.Ser1235=)
NM_001271.4(CHD2):c.3708C>T (p.Ile1236=) rs2054197617
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=) rs2054197942
NM_001271.4(CHD2):c.3732A>G (p.Lys1244=)
NM_001271.4(CHD2):c.3734+20A>C
NM_001271.4(CHD2):c.3734+20A>G rs765676490
NM_001271.4(CHD2):c.3734+9A>G
NM_001271.4(CHD2):c.3735-10C>T
NM_001271.4(CHD2):c.3735-11A>C
NM_001271.4(CHD2):c.3735-18T>C
NM_001271.4(CHD2):c.3738C>T (p.Tyr1246=) rs2054200384
NM_001271.4(CHD2):c.3801T>C (p.Ser1267=)
NM_001271.4(CHD2):c.3805C>T (p.Leu1269=)
NM_001271.4(CHD2):c.3807G>A (p.Leu1269=) rs1040196048
NM_001271.4(CHD2):c.3807G>T (p.Leu1269=) rs1040196048
NM_001271.4(CHD2):c.381+11A>T rs2141752541
NM_001271.4(CHD2):c.381+12A>G
NM_001271.4(CHD2):c.381+12del rs778998281
NM_001271.4(CHD2):c.381+14G>C
NM_001271.4(CHD2):c.3811C>T (p.Leu1271=)
NM_001271.4(CHD2):c.382-12C>G
NM_001271.4(CHD2):c.382-14del
NM_001271.4(CHD2):c.382-17C>T
NM_001271.4(CHD2):c.382-20T>C rs2141755276
NM_001271.4(CHD2):c.382-9A>C rs1555437848
NM_001271.4(CHD2):c.3879T>A (p.Thr1293=) rs2054201169
NM_001271.4(CHD2):c.3885+16A>G
NM_001271.4(CHD2):c.3885+9C>T
NM_001271.4(CHD2):c.3886-10C>T
NM_001271.4(CHD2):c.3886-11dup
NM_001271.4(CHD2):c.3886-9T>C
NM_001271.4(CHD2):c.3891G>C (p.Leu1297=)
NM_001271.4(CHD2):c.3897G>T (p.Val1299=) rs2141868862
NM_001271.4(CHD2):c.3903A>G (p.Thr1301=) rs200766577
NM_001271.4(CHD2):c.3936C>G (p.Thr1312=)
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
NM_001271.4(CHD2):c.3958C>T (p.Leu1320=) rs2141868909
NM_001271.4(CHD2):c.4008+10C>A
NM_001271.4(CHD2):c.4008+16G>T
NM_001271.4(CHD2):c.4008+17C>G rs2141868997
NM_001271.4(CHD2):c.4008+19G>C
NM_001271.4(CHD2):c.4008+9G>A
NM_001271.4(CHD2):c.4008+9G>C rs369142709
NM_001271.4(CHD2):c.4008+9G>T rs369142709
NM_001271.4(CHD2):c.4009-19A>C rs2141871654
NM_001271.4(CHD2):c.4009-19A>G rs2141871654
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln) rs751507887
NM_001271.4(CHD2):c.4035G>A (p.Arg1345=)
NM_001271.4(CHD2):c.4038A>G (p.Val1346=)
NM_001271.4(CHD2):c.4067A>G (p.Lys1356Arg)
NM_001271.4(CHD2):c.4074G>A (p.Glu1358=)
NM_001271.4(CHD2):c.4089T>G (p.Leu1363=) rs2141871747
NM_001271.4(CHD2):c.4095T>C (p.Ser1365=) rs777131411
NM_001271.4(CHD2):c.4099A>C (p.Arg1367=)
NM_001271.4(CHD2):c.4125G>A (p.Glu1375=) rs2054242561
NM_001271.4(CHD2):c.4138-11T>C
NM_001271.4(CHD2):c.4138-18C>T rs775111839
NM_001271.4(CHD2):c.4138-19_4138-18delinsTA rs1555444947
NM_001271.4(CHD2):c.4188G>A (p.Glu1396=)
NM_001271.4(CHD2):c.4191CAAGGAGAA[1] (p.1397NKE[1]) rs779732210
NM_001271.4(CHD2):c.4257G>A (p.Lys1419=) rs1318336358
NM_001271.4(CHD2):c.4260A>C (p.Ser1420=) rs760422132
NM_001271.4(CHD2):c.4260A>G (p.Ser1420=) rs760422132
NM_001271.4(CHD2):c.4278+20C>G rs762068313
NM_001271.4(CHD2):c.4278+4ATG[3] rs780977518
NM_001271.4(CHD2):c.4278+7A>T rs1000622773
NM_001271.4(CHD2):c.4279-12C>G
NM_001271.4(CHD2):c.4296C>G (p.Ala1432=) rs1596452047
NM_001271.4(CHD2):c.42G>C (p.Ser14=)
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)
NM_001271.4(CHD2):c.4371A>T (p.Gly1457=)
NM_001271.4(CHD2):c.4413+13A>T
NM_001271.4(CHD2):c.4413+15C>G
NM_001271.4(CHD2):c.4413+18G>A rs1331622431
NM_001271.4(CHD2):c.4413+19G>C rs376928152
NM_001271.4(CHD2):c.4413+20G>A
NM_001271.4(CHD2):c.4414-14T>C
NM_001271.4(CHD2):c.4414-17C>A rs2054359181
NM_001271.4(CHD2):c.4414-19C>G
NM_001271.4(CHD2):c.443+16G>A
NM_001271.4(CHD2):c.443+20A>G
NM_001271.4(CHD2):c.4434C>T (p.Pro1478=) rs199572989
NM_001271.4(CHD2):c.444-4A>C rs369479687
NM_001271.4(CHD2):c.444-4A>G rs369479687
NM_001271.4(CHD2):c.4440A>G (p.Lys1480=)
NM_001271.4(CHD2):c.4470C>T (p.Asp1490=)
NM_001271.4(CHD2):c.4476G>A (p.Gly1492=)
NM_001271.4(CHD2):c.4497G>A (p.Leu1499=)
NM_001271.4(CHD2):c.4503C>T (p.His1501=) rs2054360183
NM_001271.4(CHD2):c.4505C>G (p.Thr1502Ser) rs956620619
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.4516C>T (p.Leu1506=)
NM_001271.4(CHD2):c.4557C>G (p.Ala1519=) rs138253997
NM_001271.4(CHD2):c.4560C>T (p.Tyr1520=) rs1596454969
NM_001271.4(CHD2):c.456A>G (p.Lys152=) rs2141773450
NM_001271.4(CHD2):c.4578C>A (p.Ile1526=)
NM_001271.4(CHD2):c.4578C>T (p.Ile1526=) rs143876394
NM_001271.4(CHD2):c.4584C>A (p.Leu1528=)
NM_001271.4(CHD2):c.4584C>T (p.Leu1528=) rs543526502
NM_001271.4(CHD2):c.4592+11T>G
NM_001271.4(CHD2):c.4592+7A>C
NM_001271.4(CHD2):c.4593-14A>C
NM_001271.4(CHD2):c.4593-14A>G
NM_001271.4(CHD2):c.4593-4T>G rs2141885411
NM_001271.4(CHD2):c.45A>G (p.Leu15=) rs1009840698
NM_001271.4(CHD2):c.4626A>G (p.Glu1542=) rs2054404334
NM_001271.4(CHD2):c.462A>G (p.Glu154=)
NM_001271.4(CHD2):c.4653A>G (p.Leu1551=)
NM_001271.4(CHD2):c.4675A>C (p.Arg1559=) rs2141885460
NM_001271.4(CHD2):c.4692+20del
NM_001271.4(CHD2):c.4693-19G>C
NM_001271.4(CHD2):c.4716G>T (p.Val1572=) rs2141888143
NM_001271.4(CHD2):c.4719T>G (p.Thr1573=) rs2054436203
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu) rs56227200
NM_001271.4(CHD2):c.4727A>G (p.Lys1576Arg) rs2141888165
NM_001271.4(CHD2):c.4728G>A (p.Lys1576=)
NM_001271.4(CHD2):c.4749C>T (p.Ala1583=) rs1183396141
NM_001271.4(CHD2):c.4758C>T (p.Ser1586=)
NM_001271.4(CHD2):c.477A>G (p.Glu159=) rs2141773476
NM_001271.4(CHD2):c.4797C>T (p.His1599=) rs1596458228
NM_001271.4(CHD2):c.4822T>C (p.Leu1608=) rs201452886
NM_001271.4(CHD2):c.4840C>A (p.Pro1614Thr)
NM_001271.4(CHD2):c.4842A>G (p.Pro1614=)
NM_001271.4(CHD2):c.4845G>A (p.Gln1615=) rs1427359303
NM_001271.4(CHD2):c.4866T>C (p.Asp1622=) rs2141888326
NM_001271.4(CHD2):c.486A>G (p.Gln162=)
NM_001271.4(CHD2):c.4890A>G (p.Arg1630=) rs1596458291
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile) rs761860129
NM_001271.4(CHD2):c.4906+16dup
NM_001271.4(CHD2):c.4906+19T>C
NM_001271.4(CHD2):c.4906+7C>T
NM_001271.4(CHD2):c.4907-12_4907-9del rs764356498
NM_001271.4(CHD2):c.4907-13T>A
NM_001271.4(CHD2):c.4907-13dup rs1343290835
NM_001271.4(CHD2):c.4907-16C>G
NM_001271.4(CHD2):c.4907-7C>T
NM_001271.4(CHD2):c.4926G>A (p.Arg1642=) rs2141895125
NM_001271.4(CHD2):c.4938C>T (p.Phe1646=)
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser) rs781717447
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser) rs2054514401
NM_001271.4(CHD2):c.4968A>T (p.Pro1656=)
NM_001271.4(CHD2):c.5004C>T (p.His1668=) rs770874614
NM_001271.4(CHD2):c.5010C>T (p.Tyr1670=) rs369883738
NM_001271.4(CHD2):c.5016C>T (p.Asp1672=)
NM_001271.4(CHD2):c.5025T>C (p.Tyr1675=)
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg) rs770784804
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn) rs1555446342
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser) rs764702103
NM_001271.4(CHD2):c.5103C>T (p.Asp1701=)
NM_001271.4(CHD2):c.5109C>T (p.Tyr1703=) rs2141895374
NM_001271.4(CHD2):c.5136C>T (p.His1712=)
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp) rs1555446358
NM_001271.4(CHD2):c.5153+13C>T rs2141895433
NM_001271.4(CHD2):c.5153+15G>A
NM_001271.4(CHD2):c.5153+20A>G
NM_001271.4(CHD2):c.5153+8A>G rs1032969529
NM_001271.4(CHD2):c.5154-12T>C rs2141761261
NM_001271.4(CHD2):c.5154-9_5154-8del
NM_001271.4(CHD2):c.5163T>C (p.His1721=)
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln) rs1240488615
NM_001271.4(CHD2):c.5199T>G (p.Pro1733=)
NM_001271.4(CHD2):c.5202A>G (p.Gln1734=)
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln) rs1230076038
NM_001271.4(CHD2):c.5274C>T (p.Pro1758=)
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly) rs1596463935
NM_001271.4(CHD2):c.5343C>T (p.His1781=) rs190327730
NM_001271.4(CHD2):c.5406C>T (p.Pro1802=) rs1567168673
NM_001271.4(CHD2):c.5454C>T (p.Asn1818=)
NM_001271.4(CHD2):c.551+17A>C
NM_001271.4(CHD2):c.551+8G>A
NM_001271.4(CHD2):c.552-10C>G
NM_001271.4(CHD2):c.552-9T>C
NM_001271.4(CHD2):c.555A>G (p.Thr185=)
NM_001271.4(CHD2):c.558G>A (p.Val186=) rs766588440
NM_001271.4(CHD2):c.57A>G (p.Ala19=) rs1412598141
NM_001271.4(CHD2):c.588G>A (p.Lys196=)
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser) rs764705223
NM_001271.4(CHD2):c.596G>C (p.Arg199Pro) rs367550855
NM_001271.4(CHD2):c.59C>T (p.Ser20Leu) rs1057524801
NM_001271.4(CHD2):c.615A>G (p.Gln205=)
NM_001271.4(CHD2):c.62+18_62+21del
NM_001271.4(CHD2):c.62+19C>T
NM_001271.4(CHD2):c.62+22_62+25del
NM_001271.4(CHD2):c.624T>G (p.Ser208=)
NM_001271.4(CHD2):c.63-17C>G
NM_001271.4(CHD2):c.63-19C>G
NM_001271.4(CHD2):c.63-22TC[5] rs749583665
NM_001271.4(CHD2):c.642T>C (p.Asp214=) rs2053325593
NM_001271.4(CHD2):c.648A>G (p.Glu216=)
NM_001271.4(CHD2):c.669T>G (p.Arg223=)
NM_001271.4(CHD2):c.66C>T (p.His22=) rs2141745833
NM_001271.4(CHD2):c.678G>A (p.Ala226=)
NM_001271.4(CHD2):c.678G>T (p.Ala226=)
NM_001271.4(CHD2):c.692+10A>G rs370469675
NM_001271.4(CHD2):c.692+16G>A rs2141778590
NM_001271.4(CHD2):c.692+20T>G
NM_001271.4(CHD2):c.692+8G>A
NM_001271.4(CHD2):c.693-10C>T rs374771910
NM_001271.4(CHD2):c.708T>C (p.Asp236=)
NM_001271.4(CHD2):c.720T>A (p.Thr240=) rs762283261
NM_001271.4(CHD2):c.720T>C (p.Thr240=) rs762283261
NM_001271.4(CHD2):c.777T>C (p.Asn259=)
NM_001271.4(CHD2):c.813G>A (p.Leu271=) rs907174346
NM_001271.4(CHD2):c.826+14G>C
NM_001271.4(CHD2):c.827-10C>G rs2141787300
NM_001271.4(CHD2):c.827-15T>G
NM_001271.4(CHD2):c.846T>C (p.Thr282=)
NM_001271.4(CHD2):c.846T>G (p.Thr282=) rs763813072
NM_001271.4(CHD2):c.849A>T (p.Val283=)
NM_001271.4(CHD2):c.855G>C (p.Ala285=) rs138796857
NM_001271.4(CHD2):c.930G>A (p.Lys310=) rs1318106648
NM_001271.4(CHD2):c.948C>T (p.Tyr316=)
NM_001271.4(CHD2):c.951C>T (p.Ile317=)
NM_001271.4(CHD2):c.978C>G (p.Ser326=) rs2141787594
NM_001271.4(CHD2):c.981A>G (p.Leu327=)
NM_001271.4(CHD2):c.99A>G (p.Ser33=)
NM_001323289.2(CDKL5):c.100-20C>T
NM_001323289.2(CDKL5):c.1011T>C (p.Ser337=)
NM_001323289.2(CDKL5):c.1062C>T (p.Pro354=)
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.1106G>A (p.Gly369Glu)
NM_001323289.2(CDKL5):c.1136T>G (p.Leu379Arg)
NM_001323289.2(CDKL5):c.1164C>T (p.Ser388=)
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
NM_001323289.2(CDKL5):c.120G>C (p.Ala40=)
NM_001323289.2(CDKL5):c.1213CTT[1] (p.Leu406del) rs759725174
NM_001323289.2(CDKL5):c.1242A>G (p.Lys414=)
NM_001323289.2(CDKL5):c.1272G>A (p.Lys424=) rs1926270928
NM_001323289.2(CDKL5):c.1287A>G (p.Pro429=) rs2147160563
NM_001323289.2(CDKL5):c.1311C>T (p.Asn437=)
NM_001323289.2(CDKL5):c.1317A>G (p.Arg439=) rs2147160587
NM_001323289.2(CDKL5):c.1339T>C (p.Phe447Leu)
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
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.1387A>G (p.Lys463Glu)
NM_001323289.2(CDKL5):c.1413C>T (p.Asp471=) rs2147160714
NM_001323289.2(CDKL5):c.1442C>G (p.Ser481Cys)
NM_001323289.2(CDKL5):c.145+17_145+42del rs1305984337
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.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.146-7A>G
NM_001323289.2(CDKL5):c.146-8C>T
NM_001323289.2(CDKL5):c.1515G>A (p.Arg505=)
NM_001323289.2(CDKL5):c.1542T>C (p.Ser514=)
NM_001323289.2(CDKL5):c.1554A>G (p.Pro518=)
NM_001323289.2(CDKL5):c.1580C>T (p.Pro527Leu) rs748615147
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1596C>T (p.Pro532=)
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.1701G>T (p.Thr567=) rs751738489
NM_001323289.2(CDKL5):c.1713G>A (p.Leu571=)
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1800C>T (p.Ser600=)
NM_001323289.2(CDKL5):c.1815G>A (p.Gln605=)
NM_001323289.2(CDKL5):c.1821T>C (p.Arg607=)
NM_001323289.2(CDKL5):c.1866C>T (p.Ala622=)
NM_001323289.2(CDKL5):c.1890C>T (p.Ser630=) rs2147161290
NM_001323289.2(CDKL5):c.1906G>T (p.Ala636Ser)
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.1980A>G (p.Ala660=)
NM_001323289.2(CDKL5):c.1989G>A (p.Ser663=) rs1156694391
NM_001323289.2(CDKL5):c.2016C>T (p.Thr672=)
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.2047-15T>A
NM_001323289.2(CDKL5):c.2047-5C>T
NM_001323289.2(CDKL5):c.2061T>C (p.His687=)
NM_001323289.2(CDKL5):c.2085A>G (p.Thr695=) rs2147164693
NM_001323289.2(CDKL5):c.2106C>T (p.His702=) rs1057520416
NM_001323289.2(CDKL5):c.2121T>C (p.Pro707=)
NM_001323289.2(CDKL5):c.2135T>C (p.Val712Ala) rs1926475375
NM_001323289.2(CDKL5):c.2152+10C>T rs763466606
NM_001323289.2(CDKL5):c.2152+16G>A
NM_001323289.2(CDKL5):c.2152+9A>T
NM_001323289.2(CDKL5):c.2153-10C>G
NM_001323289.2(CDKL5):c.2153-16C>A
NM_001323289.2(CDKL5):c.2153-20C>A
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.2164C>T (p.Arg722Cys)
NM_001323289.2(CDKL5):c.2167C>T (p.Pro723Ser) rs2147167531
NM_001323289.2(CDKL5):c.2193T>C (p.Asn731=)
NM_001323289.2(CDKL5):c.21T>C (p.Gly7=) rs1922604912
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=) rs1602292116
NM_001323289.2(CDKL5):c.222G>A (p.Glu74=)
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr) rs748459878
NM_001323289.2(CDKL5):c.2268C>T (p.Phe756=)
NM_001323289.2(CDKL5):c.2276+18T>C
NM_001323289.2(CDKL5):c.2277-13T>A rs1413641177
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.234A>G (p.Ala78=) rs1288226865
NM_001323289.2(CDKL5):c.2376+11G>T
NM_001323289.2(CDKL5):c.2376+18T>A
NM_001323289.2(CDKL5):c.2377-18G>C
NM_001323289.2(CDKL5):c.2377-4C>G
NM_001323289.2(CDKL5):c.2389G>C (p.Asp797His) rs140313320
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg) rs1602298609
NM_001323289.2(CDKL5):c.2485C>G (p.Leu829Val)
NM_001323289.2(CDKL5):c.2487G>C (p.Leu829=)
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2496+16A>G
NM_001323289.2(CDKL5):c.2497-6_2497-3del rs2147178840
NM_001323289.2(CDKL5):c.2505A>G (p.Pro835=) rs2147178868
NM_001323289.2(CDKL5):c.2655G>A (p.Gly885=)
NM_001323289.2(CDKL5):c.2668C>A (p.Arg890=) rs1354788122
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_001323289.2(CDKL5):c.2685G>A (p.Pro895=)
NM_001323289.2(CDKL5):c.273T>C (p.Tyr91=)
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.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.291C>G (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.295T>C (p.Leu99=) rs2147142589
NM_001323289.2(CDKL5):c.396C>T (p.Val132=) rs1602271730
NM_001323289.2(CDKL5):c.404-16T>A
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_001323289.2(CDKL5):c.463+16A>G
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.507A>C (p.Thr169=)
NM_001323289.2(CDKL5):c.51G>A (p.Gly17=)
NM_001323289.2(CDKL5):c.532C>A (p.Arg178=)
NM_001323289.2(CDKL5):c.546C>T (p.Leu182=)
NM_001323289.2(CDKL5):c.554+17A>G
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.588G>A (p.Ser196=)
NM_001323289.2(CDKL5):c.621A>T (p.Gly207=)
NM_001323289.2(CDKL5):c.64+14T>C
NM_001323289.2(CDKL5):c.64+18C>T
NM_001323289.2(CDKL5):c.65-7A>C
NM_001323289.2(CDKL5):c.678G>T (p.Val226=)
NM_001323289.2(CDKL5):c.735T>C (p.His245=)
NM_001323289.2(CDKL5):c.745-15G>A rs2147153513
NM_001323289.2(CDKL5):c.745-20C>A
NM_001323289.2(CDKL5):c.783A>G (p.Arg261=) rs1925958381
NM_001323289.2(CDKL5):c.810A>G (p.Leu270=) rs2147153595
NM_001323289.2(CDKL5):c.825+7C>T
NM_001323289.2(CDKL5):c.825+9A>G rs2147153613
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.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+9A>C
NM_001323289.2(CDKL5):c.99+9A>T rs1602233003
NM_003159.3(CDKL5):c.2797+8_2797+9del rs1555957573
NM_003159.3(CDKL5):c.2844C>T (p.Cys948=) rs1602315522
NM_003159.3(CDKL5):c.3037_3046del (p.Val1013fs) rs1363899499
NM_004171.4(SLC1A2):c.1493A>G (p.Lys498Arg)
NM_004171.4(SLC1A2):c.1684G>A (p.Asp562Asn)
NM_004408.4(DNM1):c.1020T>C (p.Phe340=) rs2131173713
NM_004408.4(DNM1):c.1028G>A (p.Arg343His)
NM_004408.4(DNM1):c.1035G>A (p.Glu345=)
NM_004408.4(DNM1):c.1089C>T (p.Asn363=) rs1377650055
NM_004408.4(DNM1):c.108G>T (p.Val36=)
NM_004408.4(DNM1):c.1104G>A (p.Glu368=)
NM_004408.4(DNM1):c.1125C>A (p.Val375=) rs760118978
NM_004408.4(DNM1):c.1128+12A>C
NM_004408.4(DNM1):c.1129-18C>A
NM_004408.4(DNM1):c.1134G>A (p.Glu378=) rs1365194190
NM_004408.4(DNM1):c.1140T>C (p.Asp380=)
NM_004408.4(DNM1):c.114C>A (p.Gly38=)
NM_004408.4(DNM1):c.114C>T (p.Gly38=) rs1326366504
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter) rs1835102166
NM_004408.4(DNM1):c.1182T>C (p.Asn394=) rs1171703565
NM_004408.4(DNM1):c.1196+14C>A
NM_004408.4(DNM1):c.1196+16T>C
NM_004408.4(DNM1):c.1196+17G>A
NM_004408.4(DNM1):c.1196+7A>C rs955349107
NM_004408.4(DNM1):c.1196+7A>T
NM_004408.4(DNM1):c.1196+8T>C rs1588370851
NM_004408.4(DNM1):c.1197-14C>T
NM_004408.4(DNM1):c.1197-16C>G
NM_004408.4(DNM1):c.1206G>A (p.Leu402=) rs754423616
NM_004408.4(DNM1):c.1226T>C (p.Phe409Ser) rs2131181546
NM_004408.4(DNM1):c.1257G>A (p.Lys419=) rs2131181635
NM_004408.4(DNM1):c.1299G>A (p.Ser433=)
NM_004408.4(DNM1):c.1303C>T (p.Leu435=)
NM_004408.4(DNM1):c.1329C>G (p.Thr443=) rs2131181922
NM_004408.4(DNM1):c.1335+13C>T
NM_004408.4(DNM1):c.1335+14C>T
NM_004408.4(DNM1):c.1335+15C>G
NM_004408.4(DNM1):c.1335+15C>T rs779719063
NM_004408.4(DNM1):c.1335+16G>T rs768442528
NM_004408.4(DNM1):c.1336-18C>T
NM_004408.4(DNM1):c.1336-6C>T rs1400533057
NM_004408.4(DNM1):c.1344G>A (p.Gln448=) rs1352962318
NM_004408.4(DNM1):c.1377C>T (p.Ile459=) rs756256016
NM_004408.4(DNM1):c.138G>A (p.Ser46=) rs781131754
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp) rs772264918
NM_004408.4(DNM1):c.1401C>A (p.Arg467=)
NM_004408.4(DNM1):c.1416G>A (p.Lys472=) rs1835861637
NM_004408.4(DNM1):c.1422+13G>A
NM_004408.4(DNM1):c.1422+19G>A rs1440002003
NM_004408.4(DNM1):c.1422+19G>T
NM_004408.4(DNM1):c.1422+6_1422+83dup
NM_004408.4(DNM1):c.1422+8C>T
NM_004408.4(DNM1):c.1423-16C>T
NM_004408.4(DNM1):c.1423-16del
NM_004408.4(DNM1):c.1423-17C>T
NM_004408.4(DNM1):c.1461C>T (p.Asn487=) rs1318922555
NM_004408.4(DNM1):c.1462A>G (p.Thr488Ala) rs2131251443
NM_004408.4(DNM1):c.1493+17G>A
NM_004408.4(DNM1):c.1494-11C>T
NM_004408.4(DNM1):c.1494-5A>G rs1836247500
NM_004408.4(DNM1):c.1512C>T (p.Asn504=)
NM_004408.4(DNM1):c.1545+18C>A
NM_004408.4(DNM1):c.1557+1G>C rs1230944082
NM_004408.4(DNM1):c.1558-13C>T rs2131262430
NM_004408.4(DNM1):c.1566C>T (p.Arg522=)
NM_004408.4(DNM1):c.161+14G>A
NM_004408.4(DNM1):c.161+8C>T
NM_004408.4(DNM1):c.162-8C>T rs1205557529
NM_004408.4(DNM1):c.162-9T>G rs920593927
NM_004408.4(DNM1):c.1665T>C (p.Asp555=)
NM_004408.4(DNM1):c.1671+7C>G
NM_004408.4(DNM1):c.1671+7C>T
NM_004408.4(DNM1):c.1698T>C (p.Ser566=) rs749674787
NM_004408.4(DNM1):c.1714C>T (p.Leu572=) rs2131283571
NM_004408.4(DNM1):c.1761C>T (p.Ala587=)
NM_004408.4(DNM1):c.1781+16del
NM_004408.4(DNM1):c.1781+18G>C
NM_004408.4(DNM1):c.1781+9C>T
NM_004408.4(DNM1):c.1782-13C>T
NM_004408.4(DNM1):c.1782-8T>C
NM_004408.4(DNM1):c.1807C>T (p.Leu603=)
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg) rs1564352065
NM_004408.4(DNM1):c.1893+7G>T rs1157263142
NM_004408.4(DNM1):c.1894-10G>A
NM_004408.4(DNM1):c.1894-8C>T rs912124924
NM_004408.4(DNM1):c.1905+9G>T rs2131289646
NM_004408.4(DNM1):c.1906-12T>C
NM_004408.4(DNM1):c.1920G>A (p.Glu640=) rs1554784647
NM_004408.4(DNM1):c.1935C>T (p.Asp645=)
NM_004408.4(DNM1):c.1969C>A (p.Arg657=) rs2131291997
NM_004408.4(DNM1):c.1983C>T (p.Thr661=)
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr) rs1437208936
NM_004408.4(DNM1):c.2022C>T (p.Asn674=)
NM_004408.4(DNM1):c.2028C>T (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2031G>A (p.Val677=) rs1441521036
NM_004408.4(DNM1):c.2055C>A (p.Ile685=)
NM_004408.4(DNM1):c.2061C>T (p.His687=) rs1026710429
NM_004408.4(DNM1):c.2077-16C>T
NM_004408.4(DNM1):c.2077-5C>G
NM_004408.4(DNM1):c.2077-8A>G
NM_004408.4(DNM1):c.2082G>A (p.Lys694=) rs1284689897
NM_004408.4(DNM1):c.2106G>C (p.Leu702=)
NM_004408.4(DNM1):c.2121G>A (p.Ser707=)
NM_004408.4(DNM1):c.2156C>T (p.Ala719Val) rs1432815882
NM_004408.4(DNM1):c.2157G>C (p.Ala719=)
NM_004408.4(DNM1):c.216G>A (p.Gln72=) rs781185286
NM_004408.4(DNM1):c.2170C>A (p.Arg724=) rs1386035686
NM_004408.4(DNM1):c.2178C>T (p.Asp726=)
NM_004408.4(DNM1):c.2187G>A (p.Leu729=) rs749382749
NM_004408.4(DNM1):c.2190C>T (p.Arg730=)
NM_004408.4(DNM1):c.2208G>A (p.Lys736=) rs1829430358
NM_004408.4(DNM1):c.2211G>A (p.Glu737=)
NM_004408.4(DNM1):c.2241G>C (p.Thr747=) rs1184149576
NM_004408.4(DNM1):c.2241G>T (p.Thr747=)
NM_004408.4(DNM1):c.2271C>G (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2271C>T (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2289G>T (p.Leu763=) rs1393047937
NM_004408.4(DNM1):c.2318+14C>A rs1251375115
NM_004408.4(DNM1):c.2319-5C>G rs947802436
NM_004408.4(DNM1):c.2319-5C>T
NM_004408.4(DNM1):c.2319-8G>A
NM_004408.4(DNM1):c.2319-9C>T
NM_004408.4(DNM1):c.2340G>A (p.Thr780=)
NM_004408.4(DNM1):c.235+18C>T
NM_004408.4(DNM1):c.235+9C>T rs1834733486
NM_004408.4(DNM1):c.236-17G>T
NM_004408.4(DNM1):c.2385G>A (p.Ser795=)
NM_004408.4(DNM1):c.2391C>G (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2391C>T (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2427G>C (p.Leu809=) rs897409469
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val) rs888747029
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
NM_004408.4(DNM1):c.243C>A (p.Ala81=)
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
NM_004408.4(DNM1):c.246G>A (p.Glu82=)
NM_004408.4(DNM1):c.2484T>A (p.Pro828=) rs888550421
NM_004408.4(DNM1):c.2496G>A (p.Val832=) rs2131299802
NM_004408.4(DNM1):c.2526G>T (p.Gly842=) rs1390465556
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg) rs1564355393
NM_004408.4(DNM1):c.2534+7A>G
NM_004408.4(DNM1):c.2535-17T>C
NM_004408.4(DNM1):c.2541G>T (p.Ser847=)
NM_004408.4(DNM1):c.2544T>G (p.Gly848=)
NM_004408.4(DNM1):c.2583dup (p.Phe862fs) rs1244967245
NM_004408.4(DNM1):c.2592C>T (p.Leu864=) rs2131314459
NM_004408.4(DNM1):c.2594A>G (p.Ter865=) rs550838267
NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala) rs2131150312
NM_004408.4(DNM1):c.304G>A (p.Glu102Lys) rs2131150438
NM_004408.4(DNM1):c.327C>T (p.Thr109=)
NM_004408.4(DNM1):c.342C>T (p.Gly114=) rs553331150
NM_004408.4(DNM1):c.375C>T (p.Tyr125=) rs2131150705
NM_004408.4(DNM1):c.385+11T>C
NM_004408.4(DNM1):c.385+18G>A rs2131150824
NM_004408.4(DNM1):c.385+18G>C
NM_004408.4(DNM1):c.385+8C>T
NM_004408.4(DNM1):c.386-11G>T
NM_004408.4(DNM1):c.386-4C>G
NM_004408.4(DNM1):c.386-7T>C rs1588352214
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
NM_004408.4(DNM1):c.411G>T (p.Leu137=) rs1051766292
NM_004408.4(DNM1):c.435G>T (p.Val145=)
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
NM_004408.4(DNM1):c.471A>G (p.Arg157=) rs2131152882
NM_004408.4(DNM1):c.507C>T (p.Cys169=)
NM_004408.4(DNM1):c.519C>T (p.Ala173=) rs2131152966
NM_004408.4(DNM1):c.54C>T (p.Asp18=) rs2131061036
NM_004408.4(DNM1):c.589+14C>G
NM_004408.4(DNM1):c.589+19G>A
NM_004408.4(DNM1):c.589+8C>T rs1588352832
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile) rs1834848160
NM_004408.4(DNM1):c.609C>T (p.Val203=) rs1430929380
NM_004408.4(DNM1):c.644A>T (p.Asp215Val)
NM_004408.4(DNM1):c.669G>A (p.Lys223=) rs2131157240
NM_004408.4(DNM1):c.683G>A (p.Arg228His) rs866946278
NM_004408.4(DNM1):c.688+11C>T rs2131157325
NM_004408.4(DNM1):c.688+13T>C
NM_004408.4(DNM1):c.688+16C>A
NM_004408.4(DNM1):c.688+16C>G
NM_004408.4(DNM1):c.688+17C>T
NM_004408.4(DNM1):c.688+18C>G rs1253064816
NM_004408.4(DNM1):c.688+18C>T
NM_004408.4(DNM1):c.689-11A>T
NM_004408.4(DNM1):c.689-7T>C
NM_004408.4(DNM1):c.723C>T (p.Asp241=)
NM_004408.4(DNM1):c.741C>T (p.Asp247=)
NM_004408.4(DNM1):c.750C>T (p.Ala250=) rs778276496
NM_004408.4(DNM1):c.753C>T (p.Ala251=) rs1834862864
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser) rs752005713
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter) rs1456731322
NM_004408.4(DNM1):c.780C>G (p.Leu260=)
NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr) rs778811040
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
NM_004408.4(DNM1):c.801C>T (p.His267=)
NM_004408.4(DNM1):c.807T>C (p.Ala269=) rs1261949821
NM_004408.4(DNM1):c.81G>A (p.Ala27=) rs1268920821
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu) rs1156961123
NM_004408.4(DNM1):c.843C>T (p.Leu281=) rs764376283
NM_004408.4(DNM1):c.849+10C>A rs2131158360
NM_004408.4(DNM1):c.858G>A (p.Thr286=)
NM_004408.4(DNM1):c.876A>G (p.Thr292=) rs1194475149
NM_004408.4(DNM1):c.888G>A (p.Leu296=)
NM_004408.4(DNM1):c.891G>C (p.Arg297=) rs2131172668
NM_004408.4(DNM1):c.898C>T (p.Leu300=)
NM_004408.4(DNM1):c.909G>A (p.Gln303=)
NM_004408.4(DNM1):c.921T>C (p.Ile307=)
NM_004408.4(DNM1):c.930G>A (p.Glu310=) rs1272441165
NM_004408.4(DNM1):c.942C>T (p.Tyr314=)
NM_004408.4(DNM1):c.945G>T (p.Lys315Asn) rs528406413
NM_004408.4(DNM1):c.954C>T (p.Arg318=) rs774518740
NM_004408.4(DNM1):c.993-17C>T
NM_004408.4(DNM1):c.993-19C>G rs1835081298
NM_004408.4(DNM1):c.993-6C>T rs1196657001
NM_004519.4(KCNQ3):c.*3261C>T rs181166117
NM_004519.4(KCNQ3):c.1005C>T (p.Thr335=)
NM_004519.4(KCNQ3):c.1026C>T (p.Ser342=) rs1057524036
NM_004519.4(KCNQ3):c.102G>A (p.Ala34=) rs1587060440
NM_004519.4(KCNQ3):c.1044+12T>C
NM_004519.4(KCNQ3):c.1044+18A>G
NM_004519.4(KCNQ3):c.1044+9C>T
NM_004519.4(KCNQ3):c.1045-17C>T
NM_004519.4(KCNQ3):c.1045-9del
NM_004519.4(KCNQ3):c.105G>T (p.Ala35=) rs773623235
NM_004519.4(KCNQ3):c.1071C>T (p.Leu357=)
NM_004519.4(KCNQ3):c.1077G>T (p.Val359=)
NM_004519.4(KCNQ3):c.1140+14G>A rs370219417
NM_004519.4(KCNQ3):c.1140+15G>A rs771333555
NM_004519.4(KCNQ3):c.1141-17T>A rs2130109802
NM_004519.4(KCNQ3):c.1141-5del rs2130109742
NM_004519.4(KCNQ3):c.1209A>G (p.Glu403=) rs1554626530
NM_004519.4(KCNQ3):c.120G>A (p.Glu40=)
NM_004519.4(KCNQ3):c.1215C>G (p.Val405=)
NM_004519.4(KCNQ3):c.1224T>C (p.Phe408=)
NM_004519.4(KCNQ3):c.1227T>C (p.Pro409=)
NM_004519.4(KCNQ3):c.1236-7T>C rs371637178
NM_004519.4(KCNQ3):c.1236-8C>G rs144831549
NM_004519.4(KCNQ3):c.1236-8C>T rs144831549
NM_004519.4(KCNQ3):c.1262+19A>G rs1202982894
NM_004519.4(KCNQ3):c.1263-18C>T
NM_004519.4(KCNQ3):c.1263-8T>C rs2130944780
NM_004519.4(KCNQ3):c.1272G>A (p.Leu424=) rs2130944767
NM_004519.4(KCNQ3):c.129G>A (p.Val43=)
NM_004519.4(KCNQ3):c.12G>A (p.Lys4=) rs1554660855
NM_004519.4(KCNQ3):c.141C>G (p.Pro47=) rs563366275
NM_004519.4(KCNQ3):c.141C>T (p.Pro47=) rs563366275
NM_004519.4(KCNQ3):c.1422G>A (p.Thr474=)
NM_004519.4(KCNQ3):c.1437A>G (p.Lys479=)
NM_004519.4(KCNQ3):c.1446T>G (p.Ala482=)
NM_004519.4(KCNQ3):c.1465+8dup
NM_004519.4(KCNQ3):c.1466-10T>A
NM_004519.4(KCNQ3):c.1467T>C (p.Asp489=) rs2130942553
NM_004519.4(KCNQ3):c.1549G>A (p.Ala517Thr) rs1554622834
NM_004519.4(KCNQ3):c.1568+14G>T rs370848714
NM_004519.4(KCNQ3):c.1568+18C>A
NM_004519.4(KCNQ3):c.1569-18C>T
NM_004519.4(KCNQ3):c.1581C>T (p.Phe527=)
NM_004519.4(KCNQ3):c.162C>G (p.Thr54=)
NM_004519.4(KCNQ3):c.1635T>C (p.Asp545=)
NM_004519.4(KCNQ3):c.1656C>A (p.Ala552=) rs199722269
NM_004519.4(KCNQ3):c.1665C>A (p.Leu555=)
NM_004519.4(KCNQ3):c.1686G>A (p.Lys562=) rs1347503592
NM_004519.4(KCNQ3):c.168G>T (p.Ala56=) rs777374664
NM_004519.4(KCNQ3):c.1700+13C>T
NM_004519.4(KCNQ3):c.1700+14A>C rs535592577
NM_004519.4(KCNQ3):c.1700+16C>T
NM_004519.4(KCNQ3):c.1700+7C>T rs2130938532
NM_004519.4(KCNQ3):c.1701-16del
NM_004519.4(KCNQ3):c.1701-17_1701-16del
NM_004519.4(KCNQ3):c.1701-18T>C
NM_004519.4(KCNQ3):c.1701-4T>C rs1060503978
NM_004519.4(KCNQ3):c.171C>G (p.Leu57=) rs758097251
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1770A>G (p.Ala590=) rs2130931538
NM_004519.4(KCNQ3):c.1776C>T (p.Thr592=) rs2130931523
NM_004519.4(KCNQ3):c.177C>T (p.Ala59=)
NM_004519.4(KCNQ3):c.1788G>A (p.Gln596=) rs1206001509
NM_004519.4(KCNQ3):c.1791A>G (p.Gln597=)
NM_004519.4(KCNQ3):c.1799+12G>A rs2130931439
NM_004519.4(KCNQ3):c.1799+15C>T
NM_004519.4(KCNQ3):c.1799+17T>A
NM_004519.4(KCNQ3):c.1800-17T>C rs2130928127
NM_004519.4(KCNQ3):c.1800-18G>A
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) rs886062691
NM_004519.4(KCNQ3):c.1818C>T (p.Ala606=) rs2130928070
NM_004519.4(KCNQ3):c.1839C>A (p.Ile613=) rs140045642
NM_004519.4(KCNQ3):c.1839C>T (p.Ile613=) rs140045642
NM_004519.4(KCNQ3):c.183C>T (p.Ala61=)
NM_004519.4(KCNQ3):c.1860G>A (p.Gly620=)
NM_004519.4(KCNQ3):c.1884+11T>C
NM_004519.4(KCNQ3):c.1885-5T>C
NM_004519.4(KCNQ3):c.1885-7T>C
NM_004519.4(KCNQ3):c.1899G>A (p.Gly633=)
NM_004519.4(KCNQ3):c.1929C>T (p.His643=)
NM_004519.4(KCNQ3):c.1948T>C (p.Leu650=)
NM_004519.4(KCNQ3):c.1965G>C (p.Thr655=)
NM_004519.4(KCNQ3):c.1980C>G (p.Thr660=)
NM_004519.4(KCNQ3):c.1986C>A (p.Gly662=) rs140383266
NM_004519.4(KCNQ3):c.1986C>T (p.Gly662=) rs140383266
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=) rs759776061
NM_004519.4(KCNQ3):c.1998A>G (p.Pro666=) rs1586750955
NM_004519.4(KCNQ3):c.2025C>T (p.Asn675=) rs1242857199
NM_004519.4(KCNQ3):c.204G>A (p.Leu68=)
NM_004519.4(KCNQ3):c.2055C>T (p.Cys685=)
NM_004519.4(KCNQ3):c.2070A>G (p.Thr690=)
NM_004519.4(KCNQ3):c.2076C>T (p.Pro692=)
NM_004519.4(KCNQ3):c.2085A>C (p.Pro695=)
NM_004519.4(KCNQ3):c.2100C>T (p.His700=) rs563382297
NM_004519.4(KCNQ3):c.2129A>G (p.Tyr710Cys) rs1060500605
NM_004519.4(KCNQ3):c.2130T>C (p.Tyr710=) rs2130923678
NM_004519.4(KCNQ3):c.2133G>T (p.Gly711=)
NM_004519.4(KCNQ3):c.213C>A (p.Gly71=)
NM_004519.4(KCNQ3):c.2151T>C (p.Pro717=)
NM_004519.4(KCNQ3):c.216C>T (p.Gly72=)
NM_004519.4(KCNQ3):c.2190T>C (p.Val730=) rs2130923523
NM_004519.4(KCNQ3):c.2193G>A (p.Gln731=)
NM_004519.4(KCNQ3):c.2217A>G (p.Thr739=)
NM_004519.4(KCNQ3):c.2229G>A (p.Glu743=) rs2130923440
NM_004519.4(KCNQ3):c.2235C>A (p.Pro745=)
NM_004519.4(KCNQ3):c.2235C>T (p.Pro745=)
NM_004519.4(KCNQ3):c.2244G>A (p.Leu748=)
NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=) rs555827251
NM_004519.4(KCNQ3):c.228G>A (p.Glu76=)
NM_004519.4(KCNQ3):c.2298G>C (p.Leu766=) rs752643910
NM_004519.4(KCNQ3):c.2304C>A (p.Gly768=) rs894928437
NM_004519.4(KCNQ3):c.231G>A (p.Gly77=) rs1195159317
NM_004519.4(KCNQ3):c.2323T>G (p.Ser775Ala)
NM_004519.4(KCNQ3):c.2349G>T (p.Thr783=)
NM_004519.4(KCNQ3):c.2355C>T (p.Asp785=) rs753350662
NM_004519.4(KCNQ3):c.2373C>T (p.Ser791=)
NM_004519.4(KCNQ3):c.237G>A (p.Arg79=)
NM_004519.4(KCNQ3):c.2382G>C (p.Ser794=) rs767575527
NM_004519.4(KCNQ3):c.2415T>C (p.Ser805=)
NM_004519.4(KCNQ3):c.2427C>A (p.Ile809=)
NM_004519.4(KCNQ3):c.2442T>C (p.Asp814=) rs758166616
NM_004519.4(KCNQ3):c.2460C>T (p.Pro820=) rs2130922812
NM_004519.4(KCNQ3):c.2463T>C (p.Asn821=)
NM_004519.4(KCNQ3):c.2469G>T (p.Gly823=) rs1824779603
NM_004519.4(KCNQ3):c.2472G>A (p.Ser824=) rs774287489
NM_004519.4(KCNQ3):c.2514G>C (p.Thr838=) rs568466967
NM_004519.4(KCNQ3):c.2514G>T (p.Thr838=)
NM_004519.4(KCNQ3):c.2562G>C (p.Ser854=)
NM_004519.4(KCNQ3):c.2568A>C (p.Thr856=) rs774499417
NM_004519.4(KCNQ3):c.2586T>C (p.Asp862=)
NM_004519.4(KCNQ3):c.2589A>T (p.Ser863=)
NM_004519.4(KCNQ3):c.2619A>G (p.Ter873=) rs893752295
NM_004519.4(KCNQ3):c.261C>T (p.Leu87=) rs764225680
NM_004519.4(KCNQ3):c.264G>A (p.Leu88=) rs1367088907
NM_004519.4(KCNQ3):c.279G>A (p.Leu93=)
NM_004519.4(KCNQ3):c.27G>A (p.Ala9=) rs1156848745
NM_004519.4(KCNQ3):c.27G>T (p.Ala9=) rs1156848745
NM_004519.4(KCNQ3):c.295A>C (p.Arg99=) rs2130874925
NM_004519.4(KCNQ3):c.336C>T (p.Tyr112=) rs771552309
NM_004519.4(KCNQ3):c.342C>G (p.Ala114=)
NM_004519.4(KCNQ3):c.36T>A (p.Ala12=) rs2130875446
NM_004519.4(KCNQ3):c.386+11G>C
NM_004519.4(KCNQ3):c.386+16C>G
NM_004519.4(KCNQ3):c.386+18C>T rs560407473
NM_004519.4(KCNQ3):c.386+8C>A rs746209429
NM_004519.4(KCNQ3):c.386+8C>T
NM_004519.4(KCNQ3):c.387-16C>A
NM_004519.4(KCNQ3):c.387-7C>T
NM_004519.4(KCNQ3):c.399C>A (p.Val133=)
NM_004519.4(KCNQ3):c.402G>A (p.Leu134=) rs1253481641
NM_004519.4(KCNQ3):c.405G>T (p.Gly135=)
NM_004519.4(KCNQ3):c.414T>C (p.Ile138=)
NM_004519.4(KCNQ3):c.453C>G (p.Val151=)
NM_004519.4(KCNQ3):c.456G>T (p.Ser152=) rs750676667
NM_004519.4(KCNQ3):c.477+18G>A
NM_004519.4(KCNQ3):c.478-12T>C
NM_004519.4(KCNQ3):c.478-16A>T rs781487724
NM_004519.4(KCNQ3):c.489T>C (p.Ala163=) rs2130176597
NM_004519.4(KCNQ3):c.48C>G (p.Gly16=) rs751156998
NM_004519.4(KCNQ3):c.507C>T (p.Ala169=) rs1220196153
NM_004519.4(KCNQ3):c.520A>C (p.Arg174=)
NM_004519.4(KCNQ3):c.537A>T (p.Gly179=) rs1303764833
NM_004519.4(KCNQ3):c.558C>T (p.Gly186=)
NM_004519.4(KCNQ3):c.562C>A (p.Arg188=) rs754551218
NM_004519.4(KCNQ3):c.597C>T (p.Cys199=)
NM_004519.4(KCNQ3):c.601T>C (p.Leu201=)
NM_004519.4(KCNQ3):c.604+19C>T
NM_004519.4(KCNQ3):c.605-11C>T
NM_004519.4(KCNQ3):c.605-14G>A
NM_004519.4(KCNQ3):c.605-15_605-12del rs1826717428
NM_004519.4(KCNQ3):c.605-16C>T
NM_004519.4(KCNQ3):c.605-19dup rs1826717705
NM_004519.4(KCNQ3):c.605-5C>T
NM_004519.4(KCNQ3):c.609C>T (p.Ile203=) rs574174380
NM_004519.4(KCNQ3):c.627T>C (p.Ser209=)
NM_004519.4(KCNQ3):c.676C>T (p.Leu226=) rs1586806127
NM_004519.4(KCNQ3):c.679C>A (p.Arg227=) rs796052675
NM_004519.4(KCNQ3):c.69C>T (p.Gly23=)
NM_004519.4(KCNQ3):c.717G>A (p.Arg239=) rs2130156611
NM_004519.4(KCNQ3):c.723C>T (p.Asp241=) rs1586806052
NM_004519.4(KCNQ3):c.738C>G (p.Thr246=)
NM_004519.4(KCNQ3):c.744G>A (p.Lys248=)
NM_004519.4(KCNQ3):c.75G>C (p.Ala25=) rs1554660829
NM_004519.4(KCNQ3):c.768C>G (p.Ala256=) rs1447168784
NM_004519.4(KCNQ3):c.777+16A>G
NM_004519.4(KCNQ3):c.777+20T>C
NM_004519.4(KCNQ3):c.778-16C>T
NM_004519.4(KCNQ3):c.778-19C>T
NM_004519.4(KCNQ3):c.819C>T (p.Ile273=) rs775490614
NM_004519.4(KCNQ3):c.903G>A (p.Glu301=) rs764285990
NM_004519.4(KCNQ3):c.912A>C (p.Ala304=) rs762775355
NM_004519.4(KCNQ3):c.919C>T (p.Leu307=)
NM_004519.4(KCNQ3):c.921G>A (p.Leu307=) rs961895208
NM_004519.4(KCNQ3):c.934-10C>T rs756550944
NM_004519.4(KCNQ3):c.934-6C>A
NM_004519.4(KCNQ3):c.934-8C>G
NM_004519.4(KCNQ3):c.936C>A (p.Ile312=) rs746319449
NM_004519.4(KCNQ3):c.939A>G (p.Thr313=) rs1826477958
NM_004519.4(KCNQ3):c.93G>A (p.Gly31=) rs2130875298
NM_004519.4(KCNQ3):c.948C>A (p.Thr316=) rs142144538
NM_004519.4(KCNQ3):c.9C>T (p.Leu3=)
NM_005076.5(CNTN2):c.1001C>T (p.Ser334Leu)
NM_005076.5(CNTN2):c.102C>T (p.Thr34=)
NM_005076.5(CNTN2):c.1065G>A (p.Arg355=)
NM_005076.5(CNTN2):c.1083G>A (p.Leu361=)
NM_005076.5(CNTN2):c.1111-11C>G rs765974056
NM_005076.5(CNTN2):c.1111-14G>A
NM_005076.5(CNTN2):c.1111-14del
NM_005076.5(CNTN2):c.1111-4A>G rs1221890068
NM_005076.5(CNTN2):c.1111-5C>T
NM_005076.5(CNTN2):c.1111-6G>A
NM_005076.5(CNTN2):c.1111-6G>C
NM_005076.5(CNTN2):c.1111-7T>C
NM_005076.5(CNTN2):c.1137C>T (p.Asp379=) rs1054922120
NM_005076.5(CNTN2):c.1170G>A (p.Ser390=)
NM_005076.5(CNTN2):c.1197T>C (p.Asn399=)
NM_005076.5(CNTN2):c.1203C>T (p.His401=)
NM_005076.5(CNTN2):c.1224C>T (p.Ala408=) rs374199117
NM_005076.5(CNTN2):c.123C>T (p.Asp41=) rs2151189002
NM_005076.5(CNTN2):c.1240+15G>A
NM_005076.5(CNTN2):c.1241-14C>T
NM_005076.5(CNTN2):c.1269C>T (p.Pro423=)
NM_005076.5(CNTN2):c.1299G>C (p.Gly433=)
NM_005076.5(CNTN2):c.1308C>A (p.Ile436=)
NM_005076.5(CNTN2):c.1353C>T (p.Leu451=)
NM_005076.5(CNTN2):c.1359C>T (p.Ser453=) rs746391581
NM_005076.5(CNTN2):c.135T>C (p.Ser45=)
NM_005076.5(CNTN2):c.1377G>A (p.Leu459=)
NM_005076.5(CNTN2):c.1391+13C>A
NM_005076.5(CNTN2):c.1391+14C>A rs2151194296
NM_005076.5(CNTN2):c.1391+18C>T
NM_005076.5(CNTN2):c.1391+20C>G
NM_005076.5(CNTN2):c.1392-12T>A
NM_005076.5(CNTN2):c.1392-14T>C
NM_005076.5(CNTN2):c.1392-20C>T
NM_005076.5(CNTN2):c.1392-5C>T
NM_005076.5(CNTN2):c.141A>C (p.Leu47=)
NM_005076.5(CNTN2):c.1458C>T (p.Tyr486=)
NM_005076.5(CNTN2):c.1461C>G (p.Thr487=)
NM_005076.5(CNTN2):c.1507C>T (p.Leu503=) rs766723952
NM_005076.5(CNTN2):c.1519+14T>C
NM_005076.5(CNTN2):c.1519+15G>A
NM_005076.5(CNTN2):c.1519+18G>T
NM_005076.5(CNTN2):c.1519+7G>A rs1346328506
NM_005076.5(CNTN2):c.1520-14G>T rs756912706
NM_005076.5(CNTN2):c.1520-17C>T rs1302100288
NM_005076.5(CNTN2):c.1542C>T (p.Ala514=) rs1222050124
NM_005076.5(CNTN2):c.1545C>A (p.Pro515=)
NM_005076.5(CNTN2):c.1596C>T (p.Ala532=) rs1003669995
NM_005076.5(CNTN2):c.1617C>T (p.Asp539=)
NM_005076.5(CNTN2):c.1629C>G (p.Thr543=)
NM_005076.5(CNTN2):c.1638G>A (p.Leu546=)
NM_005076.5(CNTN2):c.1647C>T (p.Phe549=)
NM_005076.5(CNTN2):c.1677C>T (p.His559=) rs770974958
NM_005076.5(CNTN2):c.1680C>T (p.Tyr560=)
NM_005076.5(CNTN2):c.1695+20C>G
NM_005076.5(CNTN2):c.1695+8C>G
NM_005076.5(CNTN2):c.1696-10C>A
NM_005076.5(CNTN2):c.1696-15T>C
NM_005076.5(CNTN2):c.1696-9C>T
NM_005076.5(CNTN2):c.172T>C (p.Leu58=)
NM_005076.5(CNTN2):c.1746G>C (p.Gly582=)
NM_005076.5(CNTN2):c.1785C>T (p.Ser595=) rs374726965
NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr) rs556646437
NM_005076.5(CNTN2):c.1800C>A (p.Ala600=)
NM_005076.5(CNTN2):c.1816+13C>T
NM_005076.5(CNTN2):c.1816+15A>C rs1654266364
NM_005076.5(CNTN2):c.1816+8G>A
NM_005076.5(CNTN2):c.1817-14A>G
NM_005076.5(CNTN2):c.1848G>A (p.Val616=)
NM_005076.5(CNTN2):c.1872C>G (p.Ile624Met) rs202153875
NM_005076.5(CNTN2):c.1926C>T (p.Thr642=) rs747563076
NM_005076.5(CNTN2):c.1962G>A (p.Lys654=)
NM_005076.5(CNTN2):c.1965G>A (p.Gln655=) rs768447366
NM_005076.5(CNTN2):c.1975+10A>G rs773175563
NM_005076.5(CNTN2):c.1975+13C>T
NM_005076.5(CNTN2):c.1975+15C>T
NM_005076.5(CNTN2):c.1975+7G>T rs1654305122
NM_005076.5(CNTN2):c.1976-15C>T rs2151196512
NM_005076.5(CNTN2):c.1989C>A (p.Ile663=)
NM_005076.5(CNTN2):c.1989C>T (p.Ile663=)
NM_005076.5(CNTN2):c.2025C>A (p.Leu675=) rs1340029424
NM_005076.5(CNTN2):c.2052G>A (p.Arg684=)
NM_005076.5(CNTN2):c.2064C>T (p.Ser688=)
NM_005076.5(CNTN2):c.2079T>C (p.Thr693=) rs2151196632
NM_005076.5(CNTN2):c.2125+10C>T rs1301103369
NM_005076.5(CNTN2):c.2125+12G>A
NM_005076.5(CNTN2):c.2126-12G>T
NM_005076.5(CNTN2):c.2126-16C>A rs202038605
NM_005076.5(CNTN2):c.2130C>T (p.Pro710=) rs1009461344
NM_005076.5(CNTN2):c.2136G>A (p.Val712=)
NM_005076.5(CNTN2):c.215+11T>G
NM_005076.5(CNTN2):c.215+20T>G
NM_005076.5(CNTN2):c.216-18C>T
NM_005076.5(CNTN2):c.216-19C>T
NM_005076.5(CNTN2):c.2184C>T (p.Ile728=)
NM_005076.5(CNTN2):c.2196+7T>G rs1654476200
NM_005076.5(CNTN2):c.2197-7C>T
NM_005076.5(CNTN2):c.2197-9G>C
NM_005076.5(CNTN2):c.222G>A (p.Lys74=)
NM_005076.5(CNTN2):c.2241G>A (p.Leu747=)
NM_005076.5(CNTN2):c.2304C>T (p.Ala768=)
NM_005076.5(CNTN2):c.2349C>T (p.Pro783=)
NM_005076.5(CNTN2):c.234C>T (p.Thr78=)
NM_005076.5(CNTN2):c.2394C>T (p.Pro798=)
NM_005076.5(CNTN2):c.2412C>T (p.Leu804=) rs753589096
NM_005076.5(CNTN2):c.2431+18_2431+19insA
NM_005076.5(CNTN2):c.2432-19A>T
NM_005076.5(CNTN2):c.2445C>G (p.Ala815=)
NM_005076.5(CNTN2):c.2448T>C (p.Pro816=)
NM_005076.5(CNTN2):c.2496C>T (p.Thr832=)
NM_005076.5(CNTN2):c.2517C>T (p.Asp839=) rs1654538290
NM_005076.5(CNTN2):c.2544+14T>G
NM_005076.5(CNTN2):c.2544+20T>G
NM_005076.5(CNTN2):c.2544+9C>T
NM_005076.5(CNTN2):c.2545-10C>T
NM_005076.5(CNTN2):c.2545-11G>A
NM_005076.5(CNTN2):c.2545-16C>T rs2151199908
NM_005076.5(CNTN2):c.2545-20G>C rs749089664
NM_005076.5(CNTN2):c.2548C>T (p.Arg850Cys)
NM_005076.5(CNTN2):c.2550C>G (p.Arg850=)
NM_005076.5(CNTN2):c.2577A>G (p.Ala859=)
NM_005076.5(CNTN2):c.2589A>G (p.Arg863=) rs1452001260
NM_005076.5(CNTN2):c.2673C>T (p.Tyr891=)
NM_005076.5(CNTN2):c.2676C>T (p.Asn892=)
NM_005076.5(CNTN2):c.2683G>A (p.Gly895Ser)
NM_005076.5(CNTN2):c.2715C>T (p.Ala905=)
NM_005076.5(CNTN2):c.2718G>A (p.Thr906=)
NM_005076.5(CNTN2):c.2718G>T (p.Thr906=)
NM_005076.5(CNTN2):c.2721C>T (p.Thr907=)
NM_005076.5(CNTN2):c.2732-12C>T
NM_005076.5(CNTN2):c.273G>C (p.Val91=)
NM_005076.5(CNTN2):c.273G>T (p.Val91=)
NM_005076.5(CNTN2):c.2778T>C (p.Ser926=)
NM_005076.5(CNTN2):c.2784T>C (p.Leu928=) rs1354778874
NM_005076.5(CNTN2):c.2811T>C (p.Pro937=)
NM_005076.5(CNTN2):c.2835C>A (p.Thr945=)
NM_005076.5(CNTN2):c.283C>T (p.Leu95=) rs2151189280
NM_005076.5(CNTN2):c.2892C>T (p.Thr964=)
NM_005076.5(CNTN2):c.2967C>T (p.Pro989=)
NM_005076.5(CNTN2):c.2979G>A (p.Gly993=)
NM_005076.5(CNTN2):c.2988A>G (p.Ala996=)
NM_005076.5(CNTN2):c.3000C>A (p.Ile1000=) rs947096199
NM_005076.5(CNTN2):c.3000C>T (p.Ile1000=)
NM_005076.5(CNTN2):c.3013+14C>T rs2151200888
NM_005076.5(CNTN2):c.3013+15C>T
NM_005076.5(CNTN2):c.3013+17A>G
NM_005076.5(CNTN2):c.3013+19C>G
NM_005076.5(CNTN2):c.3014-13G>C
NM_005076.5(CNTN2):c.3014-17G>A
NM_005076.5(CNTN2):c.3042A>T (p.Ala1014=)
NM_005076.5(CNTN2):c.306G>A (p.Lys102=)
NM_005076.5(CNTN2):c.3072C>T (p.Val1024=) rs2151201250
NM_005076.5(CNTN2):c.3081C>T (p.His1027=)
NM_005076.5(CNTN2):c.3087G>C (p.Val1029=) rs747629348
NM_005076.5(CNTN2):c.3099C>T (p.Ile1033=) rs368955126
NM_005076.5(CNTN2):c.3108C>T (p.Gly1036=)
NM_005076.5(CNTN2):c.318C>G (p.Ala106=) rs372422500
NM_005076.5(CNTN2):c.342C>T (p.Ser114=)
NM_005076.5(CNTN2):c.369G>A (p.Arg123=)
NM_005076.5(CNTN2):c.387C>T (p.Phe129=)
NM_005076.5(CNTN2):c.391+18C>T
NM_005076.5(CNTN2):c.391+7C>G
NM_005076.5(CNTN2):c.391+8C>G
NM_005076.5(CNTN2):c.392-19C>T rs2151189586
NM_005076.5(CNTN2):c.394C>T (p.Leu132=) rs2151189605
NM_005076.5(CNTN2):c.39G>A (p.Leu13=) rs1375494353
NM_005076.5(CNTN2):c.487+12C>G
NM_005076.5(CNTN2):c.487+20C>T
NM_005076.5(CNTN2):c.488-17A>C rs747845333
NM_005076.5(CNTN2):c.488-4C>T
NM_005076.5(CNTN2):c.51G>A (p.Val17=) rs2151185969
NM_005076.5(CNTN2):c.528C>T (p.Phe176=) rs952476278
NM_005076.5(CNTN2):c.534G>C (p.Pro178=) rs151020999
NM_005076.5(CNTN2):c.540C>T (p.Asp180=)
NM_005076.5(CNTN2):c.543G>C (p.Gly181=) rs145237574
NM_005076.5(CNTN2):c.555G>C (p.Val185=) rs2151190097
NM_005076.5(CNTN2):c.57T>C (p.Leu19=)
NM_005076.5(CNTN2):c.591C>A (p.Thr197=)
NM_005076.5(CNTN2):c.615C>T (p.Tyr205=)
NM_005076.5(CNTN2):c.618C>G (p.Ser206=) rs1653833334
NM_005076.5(CNTN2):c.636C>T (p.His212=)
NM_005076.5(CNTN2):c.690T>C (p.Ala230=) rs1182147073
NM_005076.5(CNTN2):c.697+11G>A
NM_005076.5(CNTN2):c.697+18G>A rs872379
NM_005076.5(CNTN2):c.698-13C>A
NM_005076.5(CNTN2):c.698-14C>T
NM_005076.5(CNTN2):c.70+8G>A
NM_005076.5(CNTN2):c.71-19G>T rs762328579
NM_005076.5(CNTN2):c.71-6C>A
NM_005076.5(CNTN2):c.71-7C>T rs2151188960
NM_005076.5(CNTN2):c.744G>A (p.Glu248=)
NM_005076.5(CNTN2):c.756G>A (p.Leu252=)
NM_005076.5(CNTN2):c.762G>C (p.Gly254=) rs1653864841
NM_005076.5(CNTN2):c.777G>A (p.Leu259=)
NM_005076.5(CNTN2):c.792T>C (p.Phe264=)
NM_005076.5(CNTN2):c.797+14G>A
NM_005076.5(CNTN2):c.797+15G>A
NM_005076.5(CNTN2):c.797+18G>A
NM_005076.5(CNTN2):c.798-6T>C
NM_005076.5(CNTN2):c.816G>A (p.Lys272=)
NM_005076.5(CNTN2):c.855C>A (p.Thr285=)
NM_005076.5(CNTN2):c.900T>C (p.Asp300=)
NM_005076.5(CNTN2):c.948C>A (p.Thr316=) rs542983417
NM_005076.5(CNTN2):c.948C>T (p.Thr316=)
NM_005076.5(CNTN2):c.973+13G>C rs2151192001
NM_005076.5(CNTN2):c.974-13C>T
NM_005076.5(CNTN2):c.99C>T (p.Thr33=)
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser) rs745451424
NM_007254.4(PNKP):c.1011G>A (p.Glu337=)
NM_007254.4(PNKP):c.1014C>T (p.Leu338=)
NM_007254.4(PNKP):c.1017A>T (p.Pro339=)
NM_007254.4(PNKP):c.1029+19G>A
NM_007254.4(PNKP):c.1029+20G>C rs1239545577
NM_007254.4(PNKP):c.1030-12C>G
NM_007254.4(PNKP):c.1030-15C>T rs2122325717
NM_007254.4(PNKP):c.1030-16C>A
NM_007254.4(PNKP):c.1030-16C>G
NM_007254.4(PNKP):c.1030-16C>T rs772191471
NM_007254.4(PNKP):c.1030-8C>G
NM_007254.4(PNKP):c.103A>C (p.Arg35=)
NM_007254.4(PNKP):c.1041C>T (p.Ser347=)
NM_007254.4(PNKP):c.1044C>G (p.Arg348=) rs932293072
NM_007254.4(PNKP):c.1050G>T (p.Gly350=) rs1194208521
NM_007254.4(PNKP):c.1065C>G (p.Pro355=)
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1110A>G (p.Ala370=) rs753408018
NM_007254.4(PNKP):c.111C>A (p.Pro37=) rs781573473
NM_007254.4(PNKP):c.1125G>T (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1126+15C>T rs748643212
NM_007254.4(PNKP):c.1126+16C>T
NM_007254.4(PNKP):c.1126+9C>G rs3739202
NM_007254.4(PNKP):c.1127-10C>A rs747464508
NM_007254.4(PNKP):c.1127-19G>A
NM_007254.4(PNKP):c.1127-19G>C
NM_007254.4(PNKP):c.1127-19G>T rs776536622
NM_007254.4(PNKP):c.1127-7C>A
NM_007254.4(PNKP):c.1128C>T (p.Ala376=)
NM_007254.4(PNKP):c.1134G>A (p.Lys378=)
NM_007254.4(PNKP):c.1146C>G (p.Leu382=) rs751483948
NM_007254.4(PNKP):c.1155C>T (p.His385=) rs758168476
NM_007254.4(PNKP):c.1161G>A (p.Val387=)
NM_007254.4(PNKP):c.1164G>T (p.Ser388=) rs776788871
NM_007254.4(PNKP):c.1179C>T (p.His393=)
NM_007254.4(PNKP):c.1188+11_1188+13del
NM_007254.4(PNKP):c.1188+12C>G
NM_007254.4(PNKP):c.1188+16T>A rs1254862884
NM_007254.4(PNKP):c.1188+7C>T rs2122323745
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-13C>G
NM_007254.4(PNKP):c.1189-13C>T
NM_007254.4(PNKP):c.1189-16C>T
NM_007254.4(PNKP):c.1189-46_1189-10del
NM_007254.4(PNKP):c.1215T>C (p.Cys405=) rs2122321900
NM_007254.4(PNKP):c.1218G>C (p.Val406=)
NM_007254.4(PNKP):c.1236C>T (p.Ala412=) rs1060504641
NM_007254.4(PNKP):c.1237C>T (p.Leu413=) rs2074769563
NM_007254.4(PNKP):c.1263C>A (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.1263C>T (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.126G>A (p.Thr42=)
NM_007254.4(PNKP):c.126G>C (p.Thr42=)
NM_007254.4(PNKP):c.1284C>A (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1284C>G (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1284C>T (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1293C>A (p.Arg431=) rs143390809
NM_007254.4(PNKP):c.1296C>G (p.Ala432=)
NM_007254.4(PNKP):c.1298+12G>A rs747065246
NM_007254.4(PNKP):c.1298+12G>T rs747065246
NM_007254.4(PNKP):c.1298+13C>T
NM_007254.4(PNKP):c.1298+16_1298+17insCGCGGGTCA
NM_007254.4(PNKP):c.1298+18C>T rs964341783
NM_007254.4(PNKP):c.1298+20G>A rs765634741
NM_007254.4(PNKP):c.1298+7_1298+12dup
NM_007254.4(PNKP):c.1299-12C>T
NM_007254.4(PNKP):c.1299-13C>G rs761732328
NM_007254.4(PNKP):c.1299-9C>A rs1055654261
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
NM_007254.4(PNKP):c.1305C>G (p.Val435=)
NM_007254.4(PNKP):c.1320C>G (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1323G>T (p.Ala441=)
NM_007254.4(PNKP):c.1326C>T (p.Gly442=) rs1159488769
NM_007254.4(PNKP):c.1332C>G (p.Pro444=)
NM_007254.4(PNKP):c.1332C>T (p.Pro444=) rs1354256517
NM_007254.4(PNKP):c.1338C>G (p.Arg446=) rs1487681927
NM_007254.4(PNKP):c.135G>A (p.Lys45=)
NM_007254.4(PNKP):c.1360C>T (p.Leu454=)
NM_007254.4(PNKP):c.1371G>A (p.Ala457=) rs1477817574
NM_007254.4(PNKP):c.1386+15C>T
NM_007254.4(PNKP):c.1386+19G>A
NM_007254.4(PNKP):c.1386+40C>G
NM_007254.4(PNKP):c.1386+41C>G
NM_007254.4(PNKP):c.1386+45C>T
NM_007254.4(PNKP):c.1386+46C>G rs767727372
NM_007254.4(PNKP):c.1386+8C>T rs2074762037
NM_007254.4(PNKP):c.1386+9G>T
NM_007254.4(PNKP):c.1387-14G>A
NM_007254.4(PNKP):c.1387-35C>T
NM_007254.4(PNKP):c.1387-36C>A
NM_007254.4(PNKP):c.1387-36C>T rs748550221
NM_007254.4(PNKP):c.1387-43C>T
NM_007254.4(PNKP):c.1387-47del
NM_007254.4(PNKP):c.1387-7C>T rs1060504642
NM_007254.4(PNKP):c.1395G>A (p.Glu465=)
NM_007254.4(PNKP):c.1422G>A (p.Val474=) rs1017330396
NM_007254.4(PNKP):c.1422G>C (p.Val474=)
NM_007254.4(PNKP):c.1428C>T (p.Asp476=)
NM_007254.4(PNKP):c.1448+10G>A rs2074756487
NM_007254.4(PNKP):c.1448+11G>T
NM_007254.4(PNKP):c.1448+14T>C
NM_007254.4(PNKP):c.1448+5_1448+8dup
NM_007254.4(PNKP):c.1449-11_1449-10del rs1568658026
NM_007254.4(PNKP):c.1449-12C>T
NM_007254.4(PNKP):c.1449-13C>T
NM_007254.4(PNKP):c.1449-14_1449-13delinsTT
NM_007254.4(PNKP):c.1449-5G>A
NM_007254.4(PNKP):c.1449-5G>T rs1030404078
NM_007254.4(PNKP):c.1449-8_1449-6del
NM_007254.4(PNKP):c.1449-9C>T
NM_007254.4(PNKP):c.1464C>T (p.Ala488=)
NM_007254.4(PNKP):c.1482C>A (p.Gly494=) rs60279874
NM_007254.4(PNKP):c.1482C>G (p.Gly494=)
NM_007254.4(PNKP):c.1494C>T (p.Ile498=) rs368390840
NM_007254.4(PNKP):c.1497G>T (p.Leu499=)
NM_007254.4(PNKP):c.1500G>A (p.Glu500=) rs1381051164
NM_007254.4(PNKP):c.151+10G>T rs752454809
NM_007254.4(PNKP):c.151+9G>A rs1334243225
NM_007254.4(PNKP):c.1510C>A (p.Arg504=) rs148669160
NM_007254.4(PNKP):c.1512G>C (p.Arg504=) rs2074753438
NM_007254.4(PNKP):c.1512G>T (p.Arg504=)
NM_007254.4(PNKP):c.152-13C>T
NM_007254.4(PNKP):c.1521G>A (p.Val507=) rs2122315651
NM_007254.4(PNKP):c.1527G>T (p.Pro509=) rs144086713
NM_007254.4(PNKP):c.1536G>A (p.Gly512=) rs766717633
NM_007254.4(PNKP):c.1539G>A (p.Arg513=) rs776243333
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.1557C>G (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1560G>A (p.Glu520=)
NM_007254.4(PNKP):c.15G>A (p.Glu5=)
NM_007254.4(PNKP):c.198+13C>G
NM_007254.4(PNKP):c.198+13C>T
NM_007254.4(PNKP):c.198+15G>A
NM_007254.4(PNKP):c.198+19G>C rs533017953
NM_007254.4(PNKP):c.198+7G>T rs2122342848
NM_007254.4(PNKP):c.198+9G>T
NM_007254.4(PNKP):c.199-14C>T
NM_007254.4(PNKP):c.199-14CT[2] rs749292876
NM_007254.4(PNKP):c.222C>T (p.Thr74=)
NM_007254.4(PNKP):c.234G>A (p.Glu78=) rs2122339283
NM_007254.4(PNKP):c.258T>C (p.Ser86=) rs375826483
NM_007254.4(PNKP):c.270G>A (p.Gly90=)
NM_007254.4(PNKP):c.27C>T (p.Arg9=)
NM_007254.4(PNKP):c.28T>C (p.Leu10=)
NM_007254.4(PNKP):c.291T>C (p.Asn97=) rs1555811608
NM_007254.4(PNKP):c.294C>T (p.Gly98=) rs1197822719
NM_007254.4(PNKP):c.300C>T (p.His100=)
NM_007254.4(PNKP):c.321A>G (p.Glu107=) rs2122338975
NM_007254.4(PNKP):c.336A>G (p.Pro112=) rs2122338877
NM_007254.4(PNKP):c.357G>C (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.357G>T (p.Pro119=)
NM_007254.4(PNKP):c.36C>G (p.Leu12=) rs1197600061
NM_007254.4(PNKP):c.378C>T (p.Ser126=) rs2122338751
NM_007254.4(PNKP):c.381A>G (p.Gln127=) rs139679798
NM_007254.4(PNKP):c.408G>A (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.408G>C (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.417T>A (p.Arg139=) rs1060504643
NM_007254.4(PNKP):c.429A>C (p.Ser143=)
NM_007254.4(PNKP):c.42C>T (p.Ser14=) rs751327913
NM_007254.4(PNKP):c.432C>T (p.Asn144=)
NM_007254.4(PNKP):c.438C>G (p.Gly146=)
NM_007254.4(PNKP):c.444G>A (p.Glu148=) rs2122338483
NM_007254.4(PNKP):c.460C>T (p.Leu154=) rs933383603
NM_007254.4(PNKP):c.480G>C (p.Gly160=) rs1600421459
NM_007254.4(PNKP):c.48T>A (p.Pro16=)
NM_007254.4(PNKP):c.495C>G (p.Gly165=)
NM_007254.4(PNKP):c.498+14C>T
NM_007254.4(PNKP):c.499-18_499-17insTCCTTGGTGTCACCTG rs753093330
NM_007254.4(PNKP):c.499-19C>T rs868590428
NM_007254.4(PNKP):c.499-4C>A
NM_007254.4(PNKP):c.499-9T>C
NM_007254.4(PNKP):c.51G>A (p.Gly17=)
NM_007254.4(PNKP):c.528C>T (p.Leu176=)
NM_007254.4(PNKP):c.54A>G (p.Gly18=)
NM_007254.4(PNKP):c.578+11G>A
NM_007254.4(PNKP):c.578+11G>T
NM_007254.4(PNKP):c.578+18_578+21del
NM_007254.4(PNKP):c.578+8G>A rs1434825029
NM_007254.4(PNKP):c.578+8G>C
NM_007254.4(PNKP):c.579-11del
NM_007254.4(PNKP):c.579-6C>T
NM_007254.4(PNKP):c.579-9C>A rs955732346
NM_007254.4(PNKP):c.579-9C>G rs955732346
NM_007254.4(PNKP):c.579-9C>T
NM_007254.4(PNKP):c.582C>T (p.Ile194=)
NM_007254.4(PNKP):c.591A>G (p.Pro197=)
NM_007254.4(PNKP):c.606G>A (p.Lys202=) rs767378244
NM_007254.4(PNKP):c.609C>G (p.Leu203=)
NM_007254.4(PNKP):c.612A>G (p.Arg204=) rs1207529903
NM_007254.4(PNKP):c.636+14C>G rs2122335161
NM_007254.4(PNKP):c.636+15C>G rs773988123
NM_007254.4(PNKP):c.637-13del rs754413273
NM_007254.4(PNKP):c.637-14C>A
NM_007254.4(PNKP):c.637-14C>G
NM_007254.4(PNKP):c.637-14C>T
NM_007254.4(PNKP):c.645C>A (p.Ile215=)
NM_007254.4(PNKP):c.663C>T (p.Ser221=) rs1376565938
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.681G>C (p.Leu227=)
NM_007254.4(PNKP):c.69C>T (p.Phe23=) rs2122345008
NM_007254.4(PNKP):c.6C>T (p.Gly2=)
NM_007254.4(PNKP):c.705G>A (p.Lys235=)
NM_007254.4(PNKP):c.744+13G>A
NM_007254.4(PNKP):c.744+18G>A
NM_007254.4(PNKP):c.745-17C>G
NM_007254.4(PNKP):c.745-9C>T rs1555811381
NM_007254.4(PNKP):c.765A>C (p.Ala255=)
NM_007254.4(PNKP):c.801C>T (p.Asp267=)
NM_007254.4(PNKP):c.807G>A (p.Leu269=)
NM_007254.4(PNKP):c.816+8_816+11dup
NM_007254.4(PNKP):c.817-15T>C
NM_007254.4(PNKP):c.817-16C>T rs751500600
NM_007254.4(PNKP):c.817-17A>C
NM_007254.4(PNKP):c.817-17A>G rs759404435
NM_007254.4(PNKP):c.817-20_817-18del
NM_007254.4(PNKP):c.817-4G>C
NM_007254.4(PNKP):c.817-4G>T rs377241372
NM_007254.4(PNKP):c.817-5del rs767881542
NM_007254.4(PNKP):c.817-6C>T rs1438851811
NM_007254.4(PNKP):c.81C>T (p.Asp27=) rs1226961947
NM_007254.4(PNKP):c.828C>T (p.Gly276=)
NM_007254.4(PNKP):c.840C>T (p.Ser280=) rs754505243
NM_007254.4(PNKP):c.843C>T (p.Ile281=)
NM_007254.4(PNKP):c.865+10T>C
NM_007254.4(PNKP):c.865+11G>C
NM_007254.4(PNKP):c.865+17T>C
NM_007254.4(PNKP):c.865+8C>T
NM_007254.4(PNKP):c.865+9C>T rs1555811201
NM_007254.4(PNKP):c.865+9del rs2122329016
NM_007254.4(PNKP):c.866-14C>G
NM_007254.4(PNKP):c.866-18G>A
NM_007254.4(PNKP):c.867C>T (p.Asp289=) rs771239062
NM_007254.4(PNKP):c.873C>A (p.Ala291=) rs749641401
NM_007254.4(PNKP):c.882G>A (p.Pro294=) rs745849196
NM_007254.4(PNKP):c.882G>T (p.Pro294=)
NM_007254.4(PNKP):c.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.927C>T (p.Ala309=)
NM_007254.4(PNKP):c.933C>G (p.Arg311=) rs755200425
NM_007254.4(PNKP):c.933C>T (p.Arg311=)
NM_007254.4(PNKP):c.936+10del rs1028122181
NM_007254.4(PNKP):c.936+11T>C
NM_007254.4(PNKP):c.936+13C>A rs962788282
NM_007254.4(PNKP):c.936+13C>G rs962788282
NM_007254.4(PNKP):c.936+15C>G rs1408686073
NM_007254.4(PNKP):c.936+16C>T rs369723968
NM_007254.4(PNKP):c.936+17C>G rs771741148
NM_007254.4(PNKP):c.936+4_936+10dup
NM_007254.4(PNKP):c.937-11_937-10del rs769234730
NM_007254.4(PNKP):c.937-13C>T
NM_007254.4(PNKP):c.937-15G>A
NM_007254.4(PNKP):c.937-15G>C rs200183796
NM_007254.4(PNKP):c.937-16C>G rs755267515
NM_007254.4(PNKP):c.937-19G>T
NM_007254.4(PNKP):c.937-6C>T
NM_007254.4(PNKP):c.937-7C>T
NM_007254.4(PNKP):c.93G>C (p.Leu31=)
NM_007254.4(PNKP):c.957G>A (p.Leu319=) rs1600417997
NM_007254.4(PNKP):c.963C>T (p.Phe321=) rs1042120334
NM_007254.4(PNKP):c.999A>T (p.Ala333=) rs1568660146
NM_012281.3(KCND2):c.1014C>T (p.Phe338=) rs781428853
NM_012281.3(KCND2):c.1044G>A (p.Gly348=)
NM_012281.3(KCND2):c.1044G>C (p.Gly348=)
NM_012281.3(KCND2):c.1050G>A (p.Ser350=)
NM_012281.3(KCND2):c.1053T>C (p.Ala351=)
NM_012281.3(KCND2):c.1056C>T (p.Ser352=)
NM_012281.3(KCND2):c.105G>A (p.Arg35=)
NM_012281.3(KCND2):c.1068C>T (p.Ser356=) rs1221856771
NM_012281.3(KCND2):c.1071C>T (p.Ile357=)
NM_012281.3(KCND2):c.1115+13A>C
NM_012281.3(KCND2):c.1116-16T>G
NM_012281.3(KCND2):c.1116-17T>C
NM_012281.3(KCND2):c.1167C>T (p.Ile389=)
NM_012281.3(KCND2):c.1174C>T (p.Leu392=)
NM_012281.3(KCND2):c.1194T>C (p.Ile398=)
NM_012281.3(KCND2):c.1245G>A (p.Gln415=)
NM_012281.3(KCND2):c.1278+13C>T
NM_012281.3(KCND2):c.1278+7A>G rs2116147039
NM_012281.3(KCND2):c.1279-19T>A
NM_012281.3(KCND2):c.1279-6C>T
NM_012281.3(KCND2):c.1374+15A>C
NM_012281.3(KCND2):c.1375-10T>G
NM_012281.3(KCND2):c.1375-14C>G
NM_012281.3(KCND2):c.1375-7T>G
NM_012281.3(KCND2):c.1380A>G (p.Ser460=) rs1584903787
NM_012281.3(KCND2):c.1411G>A (p.Gly471Ser)
NM_012281.3(KCND2):c.1464C>T (p.Thr488=)
NM_012281.3(KCND2):c.1468-13A>G rs2116189673
NM_012281.3(KCND2):c.1468-14C>T rs1792997939
NM_012281.3(KCND2):c.1468-16T>C
NM_012281.3(KCND2):c.1494C>T (p.Val498=) rs2116189796
NM_012281.3(KCND2):c.1704T>G (p.Pro568=) rs2116190590
NM_012281.3(KCND2):c.1715+8A>G rs1793001971
NM_012281.3(KCND2):c.1716-14T>G
NM_012281.3(KCND2):c.1716-6T>C
NM_012281.3(KCND2):c.1716-7C>G rs1584905520
NM_012281.3(KCND2):c.174C>G (p.Thr58=)
NM_012281.3(KCND2):c.174C>T (p.Thr58=)
NM_012281.3(KCND2):c.1773T>C (p.Pro591=) rs1404266875
NM_012281.3(KCND2):c.1782T>C (p.Thr594=)
NM_012281.3(KCND2):c.1797C>T (p.Ser599=)
NM_012281.3(KCND2):c.1803A>G (p.Pro601=)
NM_012281.3(KCND2):c.1824A>G (p.Pro608=) rs2116195795
NM_012281.3(KCND2):c.1836T>C (p.Asp612=)
NM_012281.3(KCND2):c.1893A>G (p.Ter631=)
NM_012281.3(KCND2):c.195T>A (p.Thr65=) rs1584706291
NM_012281.3(KCND2):c.213G>A (p.Glu71=)
NM_012281.3(KCND2):c.273C>T (p.Ile91=) rs2116242517
NM_012281.3(KCND2):c.279C>T (p.Arg93=)
NM_012281.3(KCND2):c.27G>C (p.Leu9=) rs753709368
NM_012281.3(KCND2):c.330G>A (p.Glu110=) rs1584706391
NM_012281.3(KCND2):c.39G>A (p.Arg13=)
NM_012281.3(KCND2):c.405G>A (p.Glu135=) rs1799153420
NM_012281.3(KCND2):c.438G>A (p.Glu146=)
NM_012281.3(KCND2):c.468C>G (p.Thr156=) rs149119940
NM_012281.3(KCND2):c.468C>T (p.Thr156=) rs149119940
NM_012281.3(KCND2):c.553C>T (p.Leu185=)
NM_012281.3(KCND2):c.576G>A (p.Gly192=)
NM_012281.3(KCND2):c.582C>T (p.Phe194=)
NM_012281.3(KCND2):c.588C>T (p.Ala196=)
NM_012281.3(KCND2):c.603G>T (p.Ala201=) rs756020692
NM_012281.3(KCND2):c.624G>A (p.Pro208=) rs370036350
NM_012281.3(KCND2):c.627C>T (p.Cys209=)
NM_012281.3(KCND2):c.639A>C (p.Pro213=)
NM_012281.3(KCND2):c.666A>C (p.Gly222=)
NM_012281.3(KCND2):c.684C>T (p.Ala228=) rs143590028
NM_012281.3(KCND2):c.696G>A (p.Leu232=)
NM_012281.3(KCND2):c.69C>G (p.Ala23=)
NM_012281.3(KCND2):c.69C>T (p.Ala23=)
NM_012281.3(KCND2):c.726T>G (p.Val242=)
NM_012281.3(KCND2):c.742C>T (p.Leu248=) rs2116243692
NM_012281.3(KCND2):c.774G>C (p.Val258=)
NM_012281.3(KCND2):c.852C>T (p.Asp284=)
NM_012281.3(KCND2):c.870C>A (p.Val290=) rs1584706773
NM_012281.3(KCND2):c.915C>G (p.Arg305=)
NM_012281.3(KCND2):c.927C>A (p.Gly309=) rs2116244171
NM_012281.3(KCND2):c.939G>C (p.Leu313=) rs1303676765
NM_012281.3(KCND2):c.954G>A (p.Lys318=)
NM_012281.3(KCND2):c.978C>T (p.Phe326=) rs1554421107
NM_012281.3(KCND2):c.993C>A (p.Leu331=)
NM_015192.4(PLCB1):c.100-5del rs2051496558
NM_015192.4(PLCB1):c.1010-12G>C rs2123427869
NM_015192.4(PLCB1):c.1010-16T>C
NM_015192.4(PLCB1):c.1010-5T>G
NM_015192.4(PLCB1):c.1011T>C (p.Ala337=)
NM_015192.4(PLCB1):c.1020G>T (p.Leu340=) rs1026746331
NM_015192.4(PLCB1):c.1023T>A (p.Ala341=) rs2123427957
NM_015192.4(PLCB1):c.1023T>C (p.Ala341=)
NM_015192.4(PLCB1):c.1056G>A (p.Val352=)
NM_015192.4(PLCB1):c.1149A>T (p.Thr383=) rs1600258498
NM_015192.4(PLCB1):c.1167+9T>C rs202247297
NM_015192.4(PLCB1):c.1168-17T>C
NM_015192.4(PLCB1):c.1168-19C>T
NM_015192.4(PLCB1):c.1168-20A>G
NM_015192.4(PLCB1):c.1179A>G (p.Glu393=)
NM_015192.4(PLCB1):c.1206T>C (p.Thr402=) rs1244012742
NM_015192.4(PLCB1):c.1218A>G (p.Pro406=)
NM_015192.4(PLCB1):c.1250+10C>T rs2123451946
NM_015192.4(PLCB1):c.1251-12G>A
NM_015192.4(PLCB1):c.1251-12G>T
NM_015192.4(PLCB1):c.1251-20C>T rs2123465564
NM_015192.4(PLCB1):c.1251-5C>T rs1232990898
NM_015192.4(PLCB1):c.1263A>G (p.Gln421=) rs2123465618
NM_015192.4(PLCB1):c.1281C>T (p.Tyr427=)
NM_015192.4(PLCB1):c.1317G>A (p.Glu439=)
NM_015192.4(PLCB1):c.1320C>A (p.Pro440=) rs2123465748
NM_015192.4(PLCB1):c.1335+11C>G
NM_015192.4(PLCB1):c.1336-13dup
NM_015192.4(PLCB1):c.1365T>C (p.Pro455=) rs1979399173
NM_015192.4(PLCB1):c.1389G>A (p.Leu463=)
NM_015192.4(PLCB1):c.1401G>A (p.Lys467=)
NM_015192.4(PLCB1):c.1416G>A (p.Lys472=)
NM_015192.4(PLCB1):c.1434C>A (p.Gly478=) rs13042785
NM_015192.4(PLCB1):c.1449A>G (p.Ser483=)
NM_015192.4(PLCB1):c.1464C>T (p.Asn488=)
NM_015192.4(PLCB1):c.1467C>G (p.Thr489=) rs1319689571
NM_015192.4(PLCB1):c.1514-17T>C
NM_015192.4(PLCB1):c.1527G>A (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.1527G>C (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.1581+20G>C
NM_015192.4(PLCB1):c.1582-11C>A
NM_015192.4(PLCB1):c.1582-16T>C rs2123482619
NM_015192.4(PLCB1):c.1582-20T>C rs978161914
NM_015192.4(PLCB1):c.1582-20T>G
NM_015192.4(PLCB1):c.1582-6T>G rs763270303
NM_015192.4(PLCB1):c.1584G>C (p.Gly528=) rs957436764
NM_015192.4(PLCB1):c.1587T>C (p.Thr529=)
NM_015192.4(PLCB1):c.159C>T (p.Tyr53=)
NM_015192.4(PLCB1):c.1623T>C (p.Ser541=)
NM_015192.4(PLCB1):c.1653G>A (p.Lys551=)
NM_015192.4(PLCB1):c.1678+14G>A
NM_015192.4(PLCB1):c.1679-20T>G
NM_015192.4(PLCB1):c.1722A>G (p.Lys574=)
NM_015192.4(PLCB1):c.1740C>T (p.Thr580=) rs2123487994
NM_015192.4(PLCB1):c.1746T>G (p.Ser582=)
NM_015192.4(PLCB1):c.1763+16C>T
NM_015192.4(PLCB1):c.1764-12A>G rs1377870470
NM_015192.4(PLCB1):c.1764-7G>T
NM_015192.4(PLCB1):c.177+10G>A rs2123032657
NM_015192.4(PLCB1):c.177+13G>A
NM_015192.4(PLCB1):c.177+16T>C
NM_015192.4(PLCB1):c.177+8A>G rs2051497659
NM_015192.4(PLCB1):c.1785C>T (p.Ser595=)
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1888+17T>A
NM_015192.4(PLCB1):c.1888+9A>G rs371050904
NM_015192.4(PLCB1):c.1889-17G>T
NM_015192.4(PLCB1):c.1889-6A>G rs754796840
NM_015192.4(PLCB1):c.189A>G (p.Leu63=) rs2122343551
NM_015192.4(PLCB1):c.18C>T (p.Pro6=) rs745497485
NM_015192.4(PLCB1):c.1902A>G (p.Gln634=)
NM_015192.4(PLCB1):c.1908T>C (p.Asn636=) rs778595698
NM_015192.4(PLCB1):c.1938T>C (p.Ser646=)
NM_015192.4(PLCB1):c.1944C>T (p.Tyr648=) rs200073364
NM_015192.4(PLCB1):c.1956A>G (p.Pro652=) rs2123500900
NM_015192.4(PLCB1):c.1971G>A (p.Arg657=) rs1184814410
NM_015192.4(PLCB1):c.1992A>G (p.Pro664=)
NM_015192.4(PLCB1):c.2037T>G (p.Ser679=) rs1980374821
NM_015192.4(PLCB1):c.2043+10C>A
NM_015192.4(PLCB1):c.2043+12C>A rs2123501040
NM_015192.4(PLCB1):c.2044-7T>C rs1600286973
NM_015192.4(PLCB1):c.204T>G (p.Leu68=)
NM_015192.4(PLCB1):c.2055T>C (p.Gly685=)
NM_015192.4(PLCB1):c.2076A>G (p.Lys692=)
NM_015192.4(PLCB1):c.2079T>C (p.Val693=)
NM_015192.4(PLCB1):c.2082G>T (p.Gly694=)
NM_015192.4(PLCB1):c.2100T>C (p.Asp700=) rs1810685406
NM_015192.4(PLCB1):c.2133G>A (p.Lys711=) rs1980624026
NM_015192.4(PLCB1):c.2209-8C>G
NM_015192.4(PLCB1):c.2209-9C>A
NM_015192.4(PLCB1):c.2256A>G (p.Glu752=)
NM_015192.4(PLCB1):c.2308+10G>C
NM_015192.4(PLCB1):c.2308+11T>C
NM_015192.4(PLCB1):c.2309-5T>C rs2123518557
NM_015192.4(PLCB1):c.2316C>T (p.His772=)
NM_015192.4(PLCB1):c.2413+20T>C
NM_015192.4(PLCB1):c.2413+8A>G rs1332027028
NM_015192.4(PLCB1):c.2414-17A>C
NM_015192.4(PLCB1):c.2414-6A>G rs1980876450
NM_015192.4(PLCB1):c.2442C>A (p.Ile814=)
NM_015192.4(PLCB1):c.2448T>C (p.Tyr816=) rs2123521345
NM_015192.4(PLCB1):c.2457G>A (p.Leu819=)
NM_015192.4(PLCB1):c.246+18del
NM_015192.4(PLCB1):c.246+19T>G
NM_015192.4(PLCB1):c.246+9T>C rs2122343882
NM_015192.4(PLCB1):c.2466G>A (p.Gln822=) rs2123521405
NM_015192.4(PLCB1):c.247-13A>G
NM_015192.4(PLCB1):c.247-4C>T rs1183324381
NM_015192.4(PLCB1):c.2478A>G (p.Gln826=)
NM_015192.4(PLCB1):c.2523+11G>A rs2123521619
NM_015192.4(PLCB1):c.2523+17A>G
NM_015192.4(PLCB1):c.2524-17G>C
NM_015192.4(PLCB1):c.252C>A (p.Pro84=)
NM_015192.4(PLCB1):c.2538A>G (p.Glu846=)
NM_015192.4(PLCB1):c.2547A>G (p.Ser849=) rs995924752
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.2598C>T (p.His866=)
NM_015192.4(PLCB1):c.2607C>T (p.Thr869=)
NM_015192.4(PLCB1):c.2625C>G (p.Pro875=) rs1600302170
NM_015192.4(PLCB1):c.2628C>T (p.Ser876=) rs747869213
NM_015192.4(PLCB1):c.2656+19G>T rs1254067033
NM_015192.4(PLCB1):c.2656+20C>G
NM_015192.4(PLCB1):c.2657-10T>A
NM_015192.4(PLCB1):c.2657-10T>C
NM_015192.4(PLCB1):c.2657-18T>G
NM_015192.4(PLCB1):c.2657-19_2657-15del rs2123571999
NM_015192.4(PLCB1):c.2657-4A>G rs777637262
NM_015192.4(PLCB1):c.2658T>A (p.Gly886=) rs1420202284
NM_015192.4(PLCB1):c.2710+17C>T
NM_015192.4(PLCB1):c.2710+8C>G rs1981963703
NM_015192.4(PLCB1):c.2711-11A>C
NM_015192.4(PLCB1):c.2711-13T>C
NM_015192.4(PLCB1):c.2711-16T>C rs2123585570
NM_015192.4(PLCB1):c.2711-20T>C
NM_015192.4(PLCB1):c.2711-9T>C
NM_015192.4(PLCB1):c.2712A>G (p.Glu904=) rs2123585641
NM_015192.4(PLCB1):c.2754G>T (p.Ser918=)
NM_015192.4(PLCB1):c.2796C>T (p.Asp932=)
NM_015192.4(PLCB1):c.282C>T (p.Asn94=) rs1988422042
NM_015192.4(PLCB1):c.2835C>T (p.Ile945=)
NM_015192.4(PLCB1):c.285C>T (p.Ile95=)
NM_015192.4(PLCB1):c.2901A>G (p.Glu967=)
NM_015192.4(PLCB1):c.2931-8C>G rs1982848887
NM_015192.4(PLCB1):c.2958T>C (p.Gly986=) rs1273351024
NM_015192.4(PLCB1):c.2997T>C (p.Ala999=)
NM_015192.4(PLCB1):c.3048G>A (p.Leu1016=)
NM_015192.4(PLCB1):c.3072T>C (p.Tyr1024=)
NM_015192.4(PLCB1):c.3093G>A (p.Lys1031=) rs2146203971
NM_015192.4(PLCB1):c.3111+16A>C
NM_015192.4(PLCB1):c.3112-15A>G
NM_015192.4(PLCB1):c.3112-7T>C rs2146220088
NM_015192.4(PLCB1):c.3114T>C (p.Leu1038=)
NM_015192.4(PLCB1):c.3129G>A (p.Thr1043=) rs141102170
NM_015192.4(PLCB1):c.312A>G (p.Thr104=) rs776521907
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3138A>G (p.Ala1046=)
NM_015192.4(PLCB1):c.3141A>G (p.Glu1047=) rs1983595733
NM_015192.4(PLCB1):c.3180C>A (p.Ile1060=) rs1043961648
NM_015192.4(PLCB1):c.3180C>T (p.Ile1060=)
NM_015192.4(PLCB1):c.3188+14C>A rs2146220288
NM_015192.4(PLCB1):c.3188+16C>T
NM_015192.4(PLCB1):c.3188+17A>G
NM_015192.4(PLCB1):c.3188+20A>G
NM_015192.4(PLCB1):c.3189-18C>T rs2146220402
NM_015192.4(PLCB1):c.3189-8G>A rs2146220422
NM_015192.4(PLCB1):c.3237G>A (p.Lys1079=)
NM_015192.4(PLCB1):c.3249T>G (p.Ala1083=)
NM_015192.4(PLCB1):c.3278+16C>A
NM_015192.4(PLCB1):c.3279-9del rs1983650147
NM_015192.4(PLCB1):c.3321G>A (p.Val1107=) rs1600329135
NM_015192.4(PLCB1):c.3336+18G>A
NM_015192.4(PLCB1):c.3336+18G>T
NM_015192.4(PLCB1):c.3337-15G>A
NM_015192.4(PLCB1):c.3348G>C (p.Ala1116=) rs587780417
NM_015192.4(PLCB1):c.3360G>A (p.Arg1120=) rs2146222865
NM_015192.4(PLCB1):c.3411T>C (p.Asp1137=)
NM_015192.4(PLCB1):c.3420C>A (p.Pro1140=) rs1213422177
NM_015192.4(PLCB1):c.3423+12T>G rs1041619042
NM_015192.4(PLCB1):c.3423+18A>C
NM_015192.4(PLCB1):c.3423+18A>T rs201519375
NM_015192.4(PLCB1):c.3424-11A>G
NM_015192.4(PLCB1):c.3424-17C>T
NM_015192.4(PLCB1):c.3424-18C>T
NM_015192.4(PLCB1):c.3424-19C>T rs2146337482
NM_015192.4(PLCB1):c.3477C>A (p.Leu1159=)
NM_015192.4(PLCB1):c.3513A>C (p.Gly1171=)
NM_015192.4(PLCB1):c.3513A>G (p.Gly1171=) rs781577271
NM_015192.4(PLCB1):c.3537C>T (p.His1179=)
NM_015192.4(PLCB1):c.3546C>T (p.Ala1182=) rs148236379
NM_015192.4(PLCB1):c.3549T>A (p.Pro1183=) rs780459225
NM_015192.4(PLCB1):c.3552C>T (p.Leu1184=) rs1008953911
NM_015192.4(PLCB1):c.3603G>A (p.Glu1201=)
NM_015192.4(PLCB1):c.360G>T (p.Val120=)
NM_015192.4(PLCB1):c.3648G>C (p.Leu1216=) rs2146337863
NM_015192.4(PLCB1):c.378G>T (p.Val126=)
NM_015192.4(PLCB1):c.384+17T>C
NM_015192.4(PLCB1):c.385-15A>C
NM_015192.4(PLCB1):c.420C>T (p.Asn140=)
NM_015192.4(PLCB1):c.423G>A (p.Leu141=)
NM_015192.4(PLCB1):c.441C>G (p.Ser147=) rs1031381948
NM_015192.4(PLCB1):c.450A>G (p.Ala150=)
NM_015192.4(PLCB1):c.45C>A (p.Pro15=) rs540174506
NM_015192.4(PLCB1):c.45C>G (p.Pro15=) rs540174506
NM_015192.4(PLCB1):c.464+14A>T
NM_015192.4(PLCB1):c.464+16T>C
NM_015192.4(PLCB1):c.464+18T>A
NM_015192.4(PLCB1):c.464+20T>C rs2123286146
NM_015192.4(PLCB1):c.464+7C>G rs1193936118
NM_015192.4(PLCB1):c.465-13G>C
NM_015192.4(PLCB1):c.465-14T>C
NM_015192.4(PLCB1):c.483G>T (p.Leu161=) rs1989210406
NM_015192.4(PLCB1):c.492T>C (p.Thr164=)
NM_015192.4(PLCB1):c.507T>A (p.Ile169=)
NM_015192.4(PLCB1):c.518+14G>A
NM_015192.4(PLCB1):c.519-10C>T rs2123294964
NM_015192.4(PLCB1):c.519-13G>A rs2123294946
NM_015192.4(PLCB1):c.519-18G>A
NM_015192.4(PLCB1):c.519-19T>C rs754810660
NM_015192.4(PLCB1):c.519-20T>C rs2123294914
NM_015192.4(PLCB1):c.519-7_519-3del rs2123294953
NM_015192.4(PLCB1):c.550C>A (p.Arg184=) rs770826618
NM_015192.4(PLCB1):c.585A>G (p.Pro195=)
NM_015192.4(PLCB1):c.595-14_595-12del
NM_015192.4(PLCB1):c.595-18C>T
NM_015192.4(PLCB1):c.630A>G (p.Glu210=)
NM_015192.4(PLCB1):c.633G>T (p.Val211=)
NM_015192.4(PLCB1):c.63C>T (p.Ser21=) rs1256957868
NM_015192.4(PLCB1):c.672A>G (p.Glu224=) rs1555780720
NM_015192.4(PLCB1):c.695+11A>G
NM_015192.4(PLCB1):c.695+20G>A rs752982923
NM_015192.4(PLCB1):c.695+9A>G rs2123319106
NM_015192.4(PLCB1):c.696-8G>C rs1600230967
NM_015192.4(PLCB1):c.696-9del rs769183508
NM_015192.4(PLCB1):c.6C>G (p.Ala2=) rs752168839
NM_015192.4(PLCB1):c.6C>T (p.Ala2=) rs752168839
NM_015192.4(PLCB1):c.777T>C (p.Asn259=)
NM_015192.4(PLCB1):c.855C>T (p.Ala285=) rs1989536075
NM_015192.4(PLCB1):c.862+12C>G
NM_015192.4(PLCB1):c.862+13_862+16del
NM_015192.4(PLCB1):c.862+18C>T
NM_015192.4(PLCB1):c.862+19A>G
NM_015192.4(PLCB1):c.863-15C>T rs2123399297
NM_015192.4(PLCB1):c.882G>A (p.Gly294=)
NM_015192.4(PLCB1):c.885C>T (p.Phe295=)
NM_015192.4(PLCB1):c.903A>G (p.Gly301=) rs1990323891
NM_015192.4(PLCB1):c.90G>A (p.Lys30=) rs777647424
NM_015192.4(PLCB1):c.918C>T (p.Val306=) rs1600250108
NM_015192.4(PLCB1):c.972C>T (p.His324=) rs1289654666
NM_015192.4(PLCB1):c.99+19C>T
NM_016373.4(WWOX):c.1011G>C (p.Val337=) rs773816992
NM_016373.4(WWOX):c.1021C>T (p.Leu341=) rs201616456
NM_016373.4(WWOX):c.1023G>C (p.Leu341=)
NM_016373.4(WWOX):c.102C>T (p.Tyr34=)
NM_016373.4(WWOX):c.1047C>A (p.Thr349=) rs940453353
NM_016373.4(WWOX):c.1050G>A (p.Lys350=) rs2151386362
NM_016373.4(WWOX):c.1056+13C>A
NM_016373.4(WWOX):c.1056+18G>A
NM_016373.4(WWOX):c.1056+20C>T
NM_016373.4(WWOX):c.1056+7_1056+9del
NM_016373.4(WWOX):c.1057-10G>C
NM_016373.4(WWOX):c.1057-13_1057-11del
NM_016373.4(WWOX):c.1057-14_1057-13insTCTC
NM_016373.4(WWOX):c.1057-17_1057-14del rs750753794
NM_016373.4(WWOX):c.1057-18_1057-17dup rs1412456452
NM_016373.4(WWOX):c.1057-20C>T
NM_016373.4(WWOX):c.1057-22_1057-19del
NM_016373.4(WWOX):c.1057-22_1057-20del rs2150867224
NM_016373.4(WWOX):c.1057-7T>C
NM_016373.4(WWOX):c.1057-9G>C
NM_016373.4(WWOX):c.1057-9_1057-6dup rs2150867300
NM_016373.4(WWOX):c.107+10C>G
NM_016373.4(WWOX):c.107+10C>T
NM_016373.4(WWOX):c.107+12G>C
NM_016373.4(WWOX):c.107+13C>T
NM_016373.4(WWOX):c.107+15G>A
NM_016373.4(WWOX):c.107+17G>C
NM_016373.4(WWOX):c.1077C>G (p.Thr359=) rs150912992
NM_016373.4(WWOX):c.108-12G>C
NM_016373.4(WWOX):c.108-12_108-11del rs756598479
NM_016373.4(WWOX):c.108-12_108-6del
NM_016373.4(WWOX):c.108-14T>C
NM_016373.4(WWOX):c.108-19A>T
NM_016373.4(WWOX):c.108-20G>A rs760210735
NM_016373.4(WWOX):c.108-7T>C rs2151665632
NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)
NM_016373.4(WWOX):c.1086T>C (p.Cys362=) rs755448649
NM_016373.4(WWOX):c.1102C>T (p.Leu368=)
NM_016373.4(WWOX):c.1110T>A (p.Gly370=) rs901897952
NM_016373.4(WWOX):c.1110T>G (p.Gly370=)
NM_016373.4(WWOX):c.1113G>A (p.Leu371=)
NM_016373.4(WWOX):c.1113G>T (p.Leu371=) rs2150867604
NM_016373.4(WWOX):c.1119G>C (p.Gly373=)
NM_016373.4(WWOX):c.1128C>T (p.Phe376=) rs1417388410
NM_016373.4(WWOX):c.1155A>C (p.Ser385=) rs1414101968
NM_016373.4(WWOX):c.1182C>G (p.Ala394=)
NM_016373.4(WWOX):c.1183C>A (p.Arg395=)
NM_016373.4(WWOX):c.1185G>C (p.Arg395=) rs1296581246
NM_016373.4(WWOX):c.1188C>A (p.Thr396=) rs923268639
NM_016373.4(WWOX):c.1189C>T (p.Leu397=)
NM_016373.4(WWOX):c.1191G>C (p.Leu397=) rs749223740
NM_016373.4(WWOX):c.1197G>T (p.Ala399=) rs376935572
NM_016373.4(WWOX):c.1206G>A (p.Glu402=) rs923748427
NM_016373.4(WWOX):c.1209G>A (p.Arg403=) rs764726398
NM_016373.4(WWOX):c.1218A>G (p.Gln406=)
NM_016373.4(WWOX):c.1230C>A (p.Gly410=)
NM_016373.4(WWOX):c.1230C>G (p.Gly410=) rs778834456
NM_016373.4(WWOX):c.1236G>A (p.Gln412=)
NM_016373.4(WWOX):c.1239C>G (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.1242C>T (p.Gly414=) rs557367276
NM_016373.4(WWOX):c.12G>A (p.Leu4=) rs2151651643
NM_016373.4(WWOX):c.138T>C (p.His46=)
NM_016373.4(WWOX):c.160C>A (p.Arg54=) rs587777248
NM_016373.4(WWOX):c.165G>A (p.Val55=)
NM_016373.4(WWOX):c.172+10T>A rs2032295814
NM_016373.4(WWOX):c.172+15G>T
NM_016373.4(WWOX):c.172+17C>G
NM_016373.4(WWOX):c.172+9G>A rs1220647416
NM_016373.4(WWOX):c.173-10T>G rs960259890
NM_016373.4(WWOX):c.173-12C>G
NM_016373.4(WWOX):c.173-14T>G
NM_016373.4(WWOX):c.173-20C>G
NM_016373.4(WWOX):c.173-4T>G
NM_016373.4(WWOX):c.18C>T (p.Tyr6=)
NM_016373.4(WWOX):c.228T>A (p.Val76=) rs370579498
NM_016373.4(WWOX):c.230+9C>T rs1254974575
NM_016373.4(WWOX):c.231-10T>C
NM_016373.4(WWOX):c.231-16T>C rs376333974
NM_016373.4(WWOX):c.231-17C>A rs372361154
NM_016373.4(WWOX):c.231-17C>T
NM_016373.4(WWOX):c.231-18G>T
NM_016373.4(WWOX):c.231-7T>C
NM_016373.4(WWOX):c.231-8T>G rs776271651
NM_016373.4(WWOX):c.240T>C (p.Asn80=)
NM_016373.4(WWOX):c.252C>T (p.Thr84=)
NM_016373.4(WWOX):c.261C>T (p.Asp87=)
NM_016373.4(WWOX):c.276T>C (p.Phe92=)
NM_016373.4(WWOX):c.294G>A (p.Pro98=)
NM_016373.4(WWOX):c.294G>C (p.Pro98=) rs200208343
NM_016373.4(WWOX):c.306C>T (p.Thr102=)
NM_016373.4(WWOX):c.30C>T (p.Asp10=) rs373146723
NM_016373.4(WWOX):c.310C>A (p.Arg104=) rs750226191
NM_016373.4(WWOX):c.333C>T (p.Thr111=)
NM_016373.4(WWOX):c.360G>A (p.Arg120=)
NM_016373.4(WWOX):c.36G>A (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>C (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>T (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.375A>G (p.Lys125=)
NM_016373.4(WWOX):c.409+10T>C rs2151674977
NM_016373.4(WWOX):c.409+16A>G rs12934985
NM_016373.4(WWOX):c.409+16A>T rs12934985
NM_016373.4(WWOX):c.409+16_409+17delinsCA rs2151674999
NM_016373.4(WWOX):c.409+17G>T rs771445250
NM_016373.4(WWOX):c.409+8C>G
NM_016373.4(WWOX):c.410-14C>T
NM_016373.4(WWOX):c.410-15T>A
NM_016373.4(WWOX):c.410-4A>G rs183410581
NM_016373.4(WWOX):c.410-6C>T rs1488901499
NM_016373.4(WWOX):c.411G>T (p.Gly137=) rs1172090882
NM_016373.4(WWOX):c.423C>G (p.Ala141=)
NM_016373.4(WWOX):c.459G>A (p.Leu153=)
NM_016373.4(WWOX):c.45G>A (p.Glu15=) rs770319919
NM_016373.4(WWOX):c.462C>G (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.462C>T (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.468G>A (p.Arg156=)
NM_016373.4(WWOX):c.477A>T (p.Ala159=)
NM_016373.4(WWOX):c.480G>A (p.Arg160=) rs919851150
NM_016373.4(WWOX):c.483G>A (p.Ala161=) rs143067173
NM_016373.4(WWOX):c.495G>C (p.Val165=)
NM_016373.4(WWOX):c.498A>G (p.Ser166=)
NM_016373.4(WWOX):c.516+12A>G
NM_016373.4(WWOX):c.516+14T>A rs779863445
NM_016373.4(WWOX):c.516+14TGT[2] rs757933432
NM_016373.4(WWOX):c.516+16T>C
NM_016373.4(WWOX):c.516+19T>A rs2034899735
NM_016373.4(WWOX):c.516+6_516+7delinsCT rs2151735603
NM_016373.4(WWOX):c.517-10C>T
NM_016373.4(WWOX):c.517-11T>C rs2151934076
NM_016373.4(WWOX):c.517-12C>A rs373188700
NM_016373.4(WWOX):c.517-19T>C rs1057518552
NM_016373.4(WWOX):c.517-20T>C rs2151934070
NM_016373.4(WWOX):c.517-4G>A
NM_016373.4(WWOX):c.517-4G>C
NM_016373.4(WWOX):c.517-6T>C
NM_016373.4(WWOX):c.517-8C>T
NM_016373.4(WWOX):c.517-9T>C
NM_016373.4(WWOX):c.531A>G (p.Val177=) rs1451196383
NM_016373.4(WWOX):c.543C>G (p.Thr181=)
NM_016373.4(WWOX):c.552C>G (p.Leu184=) rs199715254
NM_016373.4(WWOX):c.555T>A (p.Ala185=) rs748722105
NM_016373.4(WWOX):c.556C>T (p.Leu186=) rs772539448
NM_016373.4(WWOX):c.558G>A (p.Leu186=) rs1464156122
NM_016373.4(WWOX):c.564T>C (p.Arg188=)
NM_016373.4(WWOX):c.588A>C (p.Ala196=)
NM_016373.4(WWOX):c.588A>G (p.Ala196=)
NM_016373.4(WWOX):c.605+10C>A rs201186695
NM_016373.4(WWOX):c.605+12A>T
NM_016373.4(WWOX):c.605+13G>A
NM_016373.4(WWOX):c.605+18G>A
NM_016373.4(WWOX):c.605+7G>A rs900076277
NM_016373.4(WWOX):c.605+7G>C
NM_016373.4(WWOX):c.605+9T>G
NM_016373.4(WWOX):c.606-14A>G
NM_016373.4(WWOX):c.618G>C (p.Val206=) rs376279847
NM_016373.4(WWOX):c.624G>T (p.Val208=)
NM_016373.4(WWOX):c.633A>G (p.Ala211=) rs1597215838
NM_016373.4(WWOX):c.63C>T (p.Gly21=)
NM_016373.4(WWOX):c.645T>C (p.Ala215=)
NM_016373.4(WWOX):c.672C>G (p.Gly224=)
NM_016373.4(WWOX):c.681C>T (p.Thr227=)
NM_016373.4(WWOX):c.684C>G (p.Thr228=)
NM_016373.4(WWOX):c.690A>G (p.Gln230=) rs372408512
NM_016373.4(WWOX):c.717T>A (p.Leu239=)
NM_016373.4(WWOX):c.729C>G (p.Leu243=) rs2083042980
NM_016373.4(WWOX):c.72G>A (p.Glu24=) rs1255601873
NM_016373.4(WWOX):c.744C>T (p.Cys248=) rs1597216164
NM_016373.4(WWOX):c.759C>A (p.Ala253=) rs1363794629
NM_016373.4(WWOX):c.765C>A (p.Val255=) rs1232507130
NM_016373.4(WWOX):c.765C>G (p.Val255=)
NM_016373.4(WWOX):c.774C>G (p.Val258=) rs1597216285
NM_016373.4(WWOX):c.780A>G (p.Ser260=) rs2083044569
NM_016373.4(WWOX):c.789T>C (p.His263=) rs2083044812
NM_016373.4(WWOX):c.791+15C>A
NM_016373.4(WWOX):c.791+15C>T
NM_016373.4(WWOX):c.791+16A>G rs2083045240
NM_016373.4(WWOX):c.791+20T>C
NM_016373.4(WWOX):c.792-15T>C rs769065057
NM_016373.4(WWOX):c.792-16A>G
NM_016373.4(WWOX):c.792-20T>C rs2151385825
NM_016373.4(WWOX):c.798A>G (p.Thr266=) rs377727422
NM_016373.4(WWOX):c.813C>G (p.Ser271=)
NM_016373.4(WWOX):c.813C>T (p.Ser271=)
NM_016373.4(WWOX):c.81C>A (p.Thr27=)
NM_016373.4(WWOX):c.823C>T (p.Leu275=) rs1272996029
NM_016373.4(WWOX):c.825G>T (p.Leu275=)
NM_016373.4(WWOX):c.840C>T (p.Leu280=)
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)
NM_016373.4(WWOX):c.867G>C (p.Ala289=) rs755002954
NM_016373.4(WWOX):c.871C>T (p.Leu291=) rs1230337512
NM_016373.4(WWOX):c.873G>A (p.Leu291=)
NM_016373.4(WWOX):c.891G>A (p.Lys297=)
NM_016373.4(WWOX):c.903C>T (p.Ile301=)
NM_016373.4(WWOX):c.909C>T (p.Phe303=)
NM_016373.4(WWOX):c.90C>T (p.Gly30=) rs772839022
NM_016373.4(WWOX):c.912C>G (p.Ser304=)
NM_016373.4(WWOX):c.915C>T (p.Asn305=) rs201818301
NM_016373.4(WWOX):c.918G>A (p.Glu306=) rs2151386096
NM_016373.4(WWOX):c.919C>T (p.Leu307=) rs200320711
NM_016373.4(WWOX):c.921G>T (p.Leu307=)
NM_016373.4(WWOX):c.924C>T (p.His308=)
NM_016373.4(WWOX):c.933C>A (p.Leu311=)
NM_016373.4(WWOX):c.936C>T (p.Ser312=) rs2151386149
NM_016373.4(WWOX):c.942C>G (p.Arg314=)
NM_016373.4(WWOX):c.945G>T (p.Gly315=) rs1232491002
NM_016373.4(WWOX):c.954G>C (p.Ser318=)
NM_016373.4(WWOX):c.963G>A (p.Val321=)
NM_016373.4(WWOX):c.969T>C (p.Pro323=)
NM_016373.4(WWOX):c.972A>C (p.Gly324=)
NM_016373.4(WWOX):c.990C>T (p.Asn330=) rs117209694
NM_016373.4(WWOX):c.993T>A (p.Ile331=)
NM_016373.4(WWOX):c.9G>A (p.Ala3=)
NM_018100.4(EFHC1):c.1138-6C>T rs932580766
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=) rs1554261597
NM_018100.4(EFHC1):c.1527C>T (p.Asp509=) rs368238981
NM_018100.4(EFHC1):c.1560T>C (p.Ala520=) rs1199507059
NM_018100.4(EFHC1):c.1563C>G (p.Ala521=) rs2114024468
NM_018100.4(EFHC1):c.1622C>G (p.Pro541Arg) rs763151746
NM_018100.4(EFHC1):c.1626T>C (p.Ala542=) rs2114024594
NM_018100.4(EFHC1):c.1758T>C (p.Tyr586=) rs1765869162
NM_018100.4(EFHC1):c.1827A>G (p.Pro609=) rs2114037054
NM_018100.4(EFHC1):c.1841_1851+13del rs775583843
NM_018100.4(EFHC1):c.1851+8T>A rs1765873500
NM_018100.4(EFHC1):c.1866C>T (p.Cys622=) rs1554262324
NM_018100.4(EFHC1):c.336G>A (p.Glu112=) rs1764580689
NM_018100.4(EFHC1):c.378A>G (p.Leu126=) rs2113979351
NM_018100.4(EFHC1):c.504A>G (p.Leu168=) rs1405675667
NM_018100.4(EFHC1):c.528T>A (p.Ile176=) rs2113979621
NM_018100.4(EFHC1):c.672C>A (p.Val224=)
NM_018100.4(EFHC1):c.678A>T (p.Pro226=) rs1060504898
NM_018100.4(EFHC1):c.816G>C (p.Thr272=) rs765401978
NM_018100.4(EFHC1):c.819G>A (p.Val273=) rs1764987409
NM_018100.4(EFHC1):c.840A>G (p.Glu280=) rs1764987965
NM_018100.4(EFHC1):c.917-6T>C
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=) rs58198225
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=) rs763608019
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=) rs2141277940
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly) rs538923520
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=) rs904297221
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=) rs545917540
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=) rs377029056
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=) rs562148225
NM_021098.3(CACNA1H):c.299+14_299+15inv
NM_021098.3(CACNA1H):c.300-5G>A rs748626072
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=) rs369351441
NM_021098.3(CACNA1H):c.3154+12C>T rs779364761
NM_021098.3(CACNA1H):c.3745-14G>A rs8056494
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=) rs750607074
NM_021098.3(CACNA1H):c.4224-17C>G rs565477632
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=) rs752944065
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=) rs559982155
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=) rs534178272
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.5039+17C>T rs201391366
NM_021098.3(CACNA1H):c.5173+13G>C rs542071111
NM_021098.3(CACNA1H):c.5173+19G>A rs753759563
NM_021098.3(CACNA1H):c.5245-11C>G rs150441087
NM_021098.3(CACNA1H):c.5245-11C>T rs150441087
NM_021098.3(CACNA1H):c.5324-16G>T rs374872701
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=) rs868670809
NM_021098.3(CACNA1H):c.537C>T (p.Val179=) rs368785828
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=) rs58632975
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=) rs375725132
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=) rs1468998569
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=) rs369201438
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=) rs529471626
NM_032776.3(JMJD1C):c.1015+9C>T rs1847845891
NM_032776.3(JMJD1C):c.1020T>C (p.Asn340=)
NM_032776.3(JMJD1C):c.1071G>A (p.Glu357=) rs1847826247
NM_032776.3(JMJD1C):c.1074T>C (p.Asp358=) rs1361787535
NM_032776.3(JMJD1C):c.1084C>T (p.Leu362=) rs1280256287
NM_032776.3(JMJD1C):c.1125T>C (p.Phe375=) rs1589169860
NM_032776.3(JMJD1C):c.117G>C (p.Ala39=)
NM_032776.3(JMJD1C):c.1191A>G (p.Pro397=) rs1589169670
NM_032776.3(JMJD1C):c.1197T>C (p.Asn399=) rs1589169651
NM_032776.3(JMJD1C):c.120G>T (p.Gly40=) rs2133123479
NM_032776.3(JMJD1C):c.123C>T (p.Val41=) rs2133123441
NM_032776.3(JMJD1C):c.1347G>C (p.Arg449=)
NM_032776.3(JMJD1C):c.147C>T (p.Asp49=) rs2133123207
NM_032776.3(JMJD1C):c.1480C>T (p.Leu494=) rs2133224175
NM_032776.3(JMJD1C):c.1516C>G (p.Pro506Ala) rs1847769670
NM_032776.3(JMJD1C):c.1527T>A (p.Val509=) rs2133223729
NM_032776.3(JMJD1C):c.168+10del rs879419570
NM_032776.3(JMJD1C):c.168+18C>T
NM_032776.3(JMJD1C):c.168+19C>T
NM_032776.3(JMJD1C):c.168+20C>G
NM_032776.3(JMJD1C):c.168+9_168+11delinsACG rs386744629
NM_032776.3(JMJD1C):c.1686C>T (p.Asp562=)
NM_032776.3(JMJD1C):c.169-11T>G
NM_032776.3(JMJD1C):c.169-18G>A
NM_032776.3(JMJD1C):c.1806T>A (p.Pro602=) rs1589167462
NM_032776.3(JMJD1C):c.1845G>A (p.Lys615=) rs2133220433
NM_032776.3(JMJD1C):c.1854A>C (p.Pro618=)
NM_032776.3(JMJD1C):c.1983T>C (p.Thr661=)
NM_032776.3(JMJD1C):c.1986T>C (p.Tyr662=)
NM_032776.3(JMJD1C):c.2007T>C (p.Gly669=)
NM_032776.3(JMJD1C):c.2010A>G (p.Glu670=) rs746334497
NM_032776.3(JMJD1C):c.2097A>G (p.Thr699=)
NM_032776.3(JMJD1C):c.2151T>A (p.Pro717=)
NM_032776.3(JMJD1C):c.2268T>C (p.Pro756=) rs2133215902
NM_032776.3(JMJD1C):c.2316T>C (p.Thr772=)
NM_032776.3(JMJD1C):c.2358A>T (p.Pro786=) rs1447114427
NM_032776.3(JMJD1C):c.2391C>A (p.Pro797=) rs763838753
NM_032776.3(JMJD1C):c.2418C>G (p.Ala806=) rs910216672
NM_032776.3(JMJD1C):c.2424A>G (p.Leu808=) rs769904055
NM_032776.3(JMJD1C):c.2481G>T (p.Ala827=)
NM_032776.3(JMJD1C):c.2482C>T (p.Leu828=) rs1564619004
NM_032776.3(JMJD1C):c.249G>A (p.Val83=)
NM_032776.3(JMJD1C):c.2550T>G (p.Pro850=)
NM_032776.3(JMJD1C):c.2562T>C (p.Tyr854=) rs2133212868
NM_032776.3(JMJD1C):c.2565T>C (p.Asn855=)
NM_032776.3(JMJD1C):c.25C>T (p.Leu9=)
NM_032776.3(JMJD1C):c.2619C>T (p.Tyr873=)
NM_032776.3(JMJD1C):c.2661A>G (p.Glu887=) rs2133212088
NM_032776.3(JMJD1C):c.2775C>T (p.Val925=) rs754472073
NM_032776.3(JMJD1C):c.2784C>T (p.Ser928=) rs1589152618
NM_032776.3(JMJD1C):c.27G>A (p.Leu9=)
NM_032776.3(JMJD1C):c.27G>C (p.Leu9=) rs750072663
NM_032776.3(JMJD1C):c.2805T>A (p.Pro935=)
NM_032776.3(JMJD1C):c.2841A>G (p.Thr947=) rs763180095
NM_032776.3(JMJD1C):c.2867+19A>C
NM_032776.3(JMJD1C):c.2868-8C>T rs1846968833
NM_032776.3(JMJD1C):c.2868-9T>C
NM_032776.3(JMJD1C):c.2935C>T (p.Leu979=) rs139734770
NM_032776.3(JMJD1C):c.2940T>C (p.Asp980=)
NM_032776.3(JMJD1C):c.2976A>G (p.Leu992=) rs2133164464
NM_032776.3(JMJD1C):c.3156G>A (p.Val1052=) rs2133162604
NM_032776.3(JMJD1C):c.3207T>C (p.Asp1069=) rs1461358577
NM_032776.3(JMJD1C):c.3243G>A (p.Lys1081=)
NM_032776.3(JMJD1C):c.3303G>A (p.Val1101=)
NM_032776.3(JMJD1C):c.3303G>C (p.Val1101=) rs771035963
NM_032776.3(JMJD1C):c.3306C>T (p.Val1102=)
NM_032776.3(JMJD1C):c.333+10A>G rs2134500737
NM_032776.3(JMJD1C):c.333+10A>T rs2134500737
NM_032776.3(JMJD1C):c.333+14C>G
NM_032776.3(JMJD1C):c.334-19A>T
NM_032776.3(JMJD1C):c.3387A>G (p.Ala1129=)
NM_032776.3(JMJD1C):c.3402A>G (p.Gln1134=) rs2133159675
NM_032776.3(JMJD1C):c.3408G>T (p.Leu1136=)
NM_032776.3(JMJD1C):c.3441A>G (p.Pro1147=) rs941064607
NM_032776.3(JMJD1C):c.3471A>G (p.Glu1157=)
NM_032776.3(JMJD1C):c.3513T>C (p.Ile1171=)
NM_032776.3(JMJD1C):c.3552G>A (p.Arg1184=) rs1208322503
NM_032776.3(JMJD1C):c.3606A>G (p.Ala1202=)
NM_032776.3(JMJD1C):c.3609A>G (p.Leu1203=) rs1589149313
NM_032776.3(JMJD1C):c.3645C>T (p.His1215=) rs1846860660
NM_032776.3(JMJD1C):c.3681T>G (p.Leu1227=)
NM_032776.3(JMJD1C):c.3684C>T (p.Ser1228=) rs1846856432
NM_032776.3(JMJD1C):c.3702G>A (p.Pro1234=)
NM_032776.3(JMJD1C):c.3757C>T (p.Leu1253=)
NM_032776.3(JMJD1C):c.375C>T (p.Val125=) rs1447328277
NM_032776.3(JMJD1C):c.3780C>T (p.Ser1260=) rs764321670
NM_032776.3(JMJD1C):c.381A>G (p.Ala127=) rs1346112475
NM_032776.3(JMJD1C):c.3823A>T (p.Met1275Leu) rs540558753
NM_032776.3(JMJD1C):c.3837T>C (p.Asn1279=) rs1224169270
NM_032776.3(JMJD1C):c.3909A>G (p.Ala1303=) rs2133153790
NM_032776.3(JMJD1C):c.3927A>G (p.Pro1309=)
NM_032776.3(JMJD1C):c.3967T>C (p.Leu1323=)
NM_032776.3(JMJD1C):c.4008G>A (p.Gly1336=)
NM_032776.3(JMJD1C):c.4113C>T (p.Asn1371=) rs1247014343
NM_032776.3(JMJD1C):c.4116T>C (p.Phe1372=)
NM_032776.3(JMJD1C):c.4119G>A (p.Gln1373=)
NM_032776.3(JMJD1C):c.411T>C (p.Asp137=) rs561459877
NM_032776.3(JMJD1C):c.4125C>T (p.Val1375=) rs2133151362
NM_032776.3(JMJD1C):c.4227C>T (p.Ser1409=)
NM_032776.3(JMJD1C):c.4284A>G (p.Thr1428=) rs2133149325
NM_032776.3(JMJD1C):c.4323A>G (p.Pro1441=)
NM_032776.3(JMJD1C):c.4350C>T (p.Val1450=)
NM_032776.3(JMJD1C):c.4386G>A (p.Lys1462=) rs188520171
NM_032776.3(JMJD1C):c.441C>T (p.Pro147=)
NM_032776.3(JMJD1C):c.4422A>C (p.Ser1474=)
NM_032776.3(JMJD1C):c.4455C>T (p.His1485=)
NM_032776.3(JMJD1C):c.4464A>G (p.Ala1488=) rs377385483
NM_032776.3(JMJD1C):c.4473A>G (p.Ala1491=) rs2133146821
NM_032776.3(JMJD1C):c.4533A>C (p.Thr1511=)
NM_032776.3(JMJD1C):c.4548T>C (p.Leu1516=) rs2133145980
NM_032776.3(JMJD1C):c.45G>A (p.Leu15=) rs756992665
NM_032776.3(JMJD1C):c.4614T>A (p.Ala1538=) rs2133145061
NM_032776.3(JMJD1C):c.4617C>T (p.Ser1539=) rs753472329
NM_032776.3(JMJD1C):c.462C>T (p.Ser154=) rs1589189257
NM_032776.3(JMJD1C):c.4659C>G (p.Ala1553=) rs2133144495
NM_032776.3(JMJD1C):c.4695T>G (p.Thr1565=) rs1163608474
NM_032776.3(JMJD1C):c.4713A>G (p.Ser1571=) rs2133143968
NM_032776.3(JMJD1C):c.4713A>T (p.Ser1571=) rs2133143968
NM_032776.3(JMJD1C):c.4843A>C (p.Arg1615=) rs1846680996
NM_032776.3(JMJD1C):c.4869A>G (p.Glu1623=)
NM_032776.3(JMJD1C):c.48T>C (p.Cys16=)
NM_032776.3(JMJD1C):c.4959G>A (p.Lys1653=)
NM_032776.3(JMJD1C):c.4974A>G (p.Gln1658=)
NM_032776.3(JMJD1C):c.4977G>A (p.Lys1659=)
NM_032776.3(JMJD1C):c.5074+13C>T
NM_032776.3(JMJD1C):c.5074+14T>C
NM_032776.3(JMJD1C):c.5075-17T>A
NM_032776.3(JMJD1C):c.5109T>C (p.Arg1703=) rs2133081764
NM_032776.3(JMJD1C):c.5148A>G (p.Leu1716=)
NM_032776.3(JMJD1C):c.5211T>C (p.Ile1737=) rs773956806
NM_032776.3(JMJD1C):c.5241C>T (p.His1747=) rs1845896422
NM_032776.3(JMJD1C):c.5277-8T>C
NM_032776.3(JMJD1C):c.5283A>G (p.Ser1761=)
NM_032776.3(JMJD1C):c.5295C>T (p.Asn1765=)
NM_032776.3(JMJD1C):c.5301A>T (p.Val1767=) rs2133064888
NM_032776.3(JMJD1C):c.5319C>T (p.Phe1773=)
NM_032776.3(JMJD1C):c.5388A>G (p.Glu1796=) rs1253466513
NM_032776.3(JMJD1C):c.5454A>G (p.Thr1818=)
NM_032776.3(JMJD1C):c.5484A>G (p.Lys1828=) rs1845692836
NM_032776.3(JMJD1C):c.5491+14A>G
NM_032776.3(JMJD1C):c.5492-9G>A rs1589123853
NM_032776.3(JMJD1C):c.5538T>C (p.Cys1846=) rs1589123712
NM_032776.3(JMJD1C):c.554-17C>G
NM_032776.3(JMJD1C):c.5589T>C (p.Cys1863=) rs1554833174
NM_032776.3(JMJD1C):c.5604C>T (p.Cys1868=)
NM_032776.3(JMJD1C):c.5607A>G (p.Leu1869=)
NM_032776.3(JMJD1C):c.5645-9A>G
NM_032776.3(JMJD1C):c.5655A>G (p.Leu1885=)
NM_032776.3(JMJD1C):c.5691T>C (p.His1897=)
NM_032776.3(JMJD1C):c.5734+20G>A
NM_032776.3(JMJD1C):c.57C>T (p.Val19=) rs2133124257
NM_032776.3(JMJD1C):c.5811C>T (p.Asn1937=) rs1845078415
NM_032776.3(JMJD1C):c.5844A>C (p.Thr1948=) rs2133011274
NM_032776.3(JMJD1C):c.5850T>C (p.Asn1950=)
NM_032776.3(JMJD1C):c.5862+10_5862+11del rs1845073177
NM_032776.3(JMJD1C):c.5868A>G (p.Leu1956=) rs760034491
NM_032776.3(JMJD1C):c.588A>G (p.Val196=) rs780054796
NM_032776.3(JMJD1C):c.5902C>T (p.Leu1968=) rs1034862088
NM_032776.3(JMJD1C):c.5904G>A (p.Leu1968=)
NM_032776.3(JMJD1C):c.5993A>C (p.Asn1998Thr) rs550649881
NM_032776.3(JMJD1C):c.6018G>A (p.Gln2006=) rs2133006564
NM_032776.3(JMJD1C):c.6024A>G (p.Pro2008=) rs2133006517
NM_032776.3(JMJD1C):c.6077-15A>G
NM_032776.3(JMJD1C):c.60C>T (p.Gly20=)
NM_032776.3(JMJD1C):c.612G>A (p.Gln204=)
NM_032776.3(JMJD1C):c.6213T>A (p.Thr2071=) rs1470102272
NM_032776.3(JMJD1C):c.6246A>G (p.Thr2082=) rs1007600942
NM_032776.3(JMJD1C):c.6292-21_6292-19del
NM_032776.3(JMJD1C):c.6292-8C>T rs755721303
NM_032776.3(JMJD1C):c.6297C>T (p.Ser2099=)
NM_032776.3(JMJD1C):c.6360A>G (p.Lys2120=)
NM_032776.3(JMJD1C):c.6453T>C (p.Asn2151=)
NM_032776.3(JMJD1C):c.6504A>G (p.Leu2168=)
NM_032776.3(JMJD1C):c.6513G>A (p.Lys2171=)
NM_032776.3(JMJD1C):c.6570+10_6570+11del
NM_032776.3(JMJD1C):c.6570+13G>A
NM_032776.3(JMJD1C):c.6570+13G>T rs2132952513
NM_032776.3(JMJD1C):c.6570+17G>A
NM_032776.3(JMJD1C):c.6570+20A>G
NM_032776.3(JMJD1C):c.6571-9A>G
NM_032776.3(JMJD1C):c.6606C>T (p.Asn2202=) rs1054058537
NM_032776.3(JMJD1C):c.6740-3dup rs2132914885
NM_032776.3(JMJD1C):c.6740-7C>T
NM_032776.3(JMJD1C):c.6750A>G (p.Lys2250=) rs2132914778
NM_032776.3(JMJD1C):c.6771T>C (p.Val2257=) rs981353505
NM_032776.3(JMJD1C):c.678+13A>C
NM_032776.3(JMJD1C):c.678+14C>T
NM_032776.3(JMJD1C):c.678+16A>C
NM_032776.3(JMJD1C):c.678+16A>G
NM_032776.3(JMJD1C):c.679-5A>T rs1237244107
NM_032776.3(JMJD1C):c.682C>T (p.Leu228=)
NM_032776.3(JMJD1C):c.6831-20G>A
NM_032776.3(JMJD1C):c.6844T>C (p.Leu2282=) rs1349303677
NM_032776.3(JMJD1C):c.6858A>G (p.Pro2286=) rs760036423
NM_032776.3(JMJD1C):c.6876T>C (p.Asn2292=) rs891610063
NM_032776.3(JMJD1C):c.6909G>A (p.Leu2303=) rs2132900386
NM_032776.3(JMJD1C):c.6951C>T (p.Cys2317=) rs2132900164
NM_032776.3(JMJD1C):c.6961+14C>T rs2132900042
NM_032776.3(JMJD1C):c.7074C>T (p.Leu2358=) rs2132884633
NM_032776.3(JMJD1C):c.7084+12A>G
NM_032776.3(JMJD1C):c.7085-16T>C
NM_032776.3(JMJD1C):c.7085-9T>G
NM_032776.3(JMJD1C):c.7092C>G (p.Leu2364=) rs1342898465
NM_032776.3(JMJD1C):c.7138T>C (p.Leu2380=)
NM_032776.3(JMJD1C):c.7191A>G (p.Lys2397=)
NM_032776.3(JMJD1C):c.7224+14T>C
NM_032776.3(JMJD1C):c.7227T>C (p.Ile2409=)
NM_032776.3(JMJD1C):c.7374T>A (p.Ile2458=) rs1589053902
NM_032776.3(JMJD1C):c.7402-19dup rs779521920
NM_032776.3(JMJD1C):c.7440T>C (p.Asp2480=) rs1332989506
NM_032776.3(JMJD1C):c.7503G>A (p.Lys2501=) rs529698959
NM_032776.3(JMJD1C):c.7518T>C (p.Tyr2506=) rs1842049722
NM_032776.3(JMJD1C):c.7534-12C>T
NM_032776.3(JMJD1C):c.7534-12del
NM_032776.3(JMJD1C):c.7534-14A>G
NM_032776.3(JMJD1C):c.7534-16T>C
NM_032776.3(JMJD1C):c.7534-9C>A rs374905392
NM_032776.3(JMJD1C):c.75G>A (p.Ser25=)
NM_032776.3(JMJD1C):c.7620T>C (p.Asn2540=) rs1230119535
NM_032776.3(JMJD1C):c.783A>G (p.Arg261=)
NM_032776.3(JMJD1C):c.822+19A>G
NM_032776.3(JMJD1C):c.823-8_823-6del rs2133232218
NM_032776.3(JMJD1C):c.840C>G (p.Ala280=) rs1847868976
NM_032776.3(JMJD1C):c.906G>A (p.Gln302=) rs2133231395
NM_032776.3(JMJD1C):c.951A>G (p.Ser317=) rs2133231004
NM_139058.3(ARX):c.1005C>T (p.Phe335=)
NM_139058.3(ARX):c.1008C>A (p.Thr336=) rs2147323576
NM_139058.3(ARX):c.1014C>T (p.Tyr338=)
NM_139058.3(ARX):c.1017G>A (p.Gln339=)
NM_139058.3(ARX):c.1026A>G (p.Glu342=)
NM_139058.3(ARX):c.1033C>A (p.Arg345=) rs1601948273
NM_139058.3(ARX):c.1050G>A (p.Thr350=)
NM_139058.3(ARX):c.1059G>A (p.Pro353=) rs1060504804
NM_139058.3(ARX):c.1062C>T (p.Asp354=)
NM_139058.3(ARX):c.1073+13G>A
NM_139058.3(ARX):c.1073+14G>T
NM_139058.3(ARX):c.1073+18T>C
NM_139058.3(ARX):c.1073+7G>A
NM_139058.3(ARX):c.1073+8C>A
NM_139058.3(ARX):c.1073+9G>A
NM_139058.3(ARX):c.1074-20T>G
NM_139058.3(ARX):c.1074-5T>C
NM_139058.3(ARX):c.1074-7C>A
NM_139058.3(ARX):c.1083G>A (p.Leu361=)
NM_139058.3(ARX):c.1083G>C (p.Leu361=)
NM_139058.3(ARX):c.1095G>C (p.Leu365=)
NM_139058.3(ARX):c.1095G>T (p.Leu365=)
NM_139058.3(ARX):c.1116C>A (p.Val372=)
NM_139058.3(ARX):c.1119+14C>T
NM_139058.3(ARX):c.1119+16G>A
NM_139058.3(ARX):c.1119+20G>A rs2048696652
NM_139058.3(ARX):c.1120-12T>G
NM_139058.3(ARX):c.1120-17CT[3] rs763304807
NM_139058.3(ARX):c.1120-4G>A
NM_139058.3(ARX):c.1120-5del rs2147320646
NM_139058.3(ARX):c.1143C>T (p.Ala381=)
NM_139058.3(ARX):c.1155G>A (p.Lys385=) rs1053434875
NM_139058.3(ARX):c.1158G>T (p.Arg386=)
NM_139058.3(ARX):c.1173G>A (p.Ala391=)
NM_139058.3(ARX):c.1185C>T (p.Pro395=)
NM_139058.3(ARX):c.1203G>C (p.Pro401=)
NM_139058.3(ARX):c.1209G>A (p.Pro403=) rs1380487514
NM_139058.3(ARX):c.1209G>C (p.Pro403=) rs1380487514
NM_139058.3(ARX):c.1230C>G (p.Leu410=)
NM_139058.3(ARX):c.1239C>T (p.Tyr413=)
NM_139058.3(ARX):c.1245C>T (p.Asp415=) rs2147320537
NM_139058.3(ARX):c.1248C>T (p.Ala416=)
NM_139058.3(ARX):c.125G>C (p.Arg42Pro) rs763796730
NM_139058.3(ARX):c.1263G>A (p.Pro421=)
NM_139058.3(ARX):c.1263G>T (p.Pro421=)
NM_139058.3(ARX):c.1275G>T (p.Ala425=) rs2048682544
NM_139058.3(ARX):c.1278C>G (p.Leu426=)
NM_139058.3(ARX):c.1296C>T (p.Ala432=) rs990653917
NM_139058.3(ARX):c.1299T>A (p.Ala433=) rs952488301
NM_139058.3(ARX):c.1299T>C (p.Ala433=)
NM_139058.3(ARX):c.1299_1310del (p.Ala437_Ala440del) rs776061068
NM_139058.3(ARX):c.1302C>T (p.Ala434=)
NM_139058.3(ARX):c.1305C>T (p.Ala435=)
NM_139058.3(ARX):c.1308C>T (p.Ala436=)
NM_139058.3(ARX):c.1311C>A (p.Ala437=) rs1307707269
NM_139058.3(ARX):c.1311C>T (p.Ala437=)
NM_139058.3(ARX):c.1314C>T (p.Ala438=)
NM_139058.3(ARX):c.1320C>T (p.Ala440=)
NM_139058.3(ARX):c.1323C>T (p.Phe441=)
NM_139058.3(ARX):c.1326G>C (p.Pro442=) rs774538294
NM_139058.3(ARX):c.132G>C (p.Leu44=)
NM_139058.3(ARX):c.1330C>T (p.Leu444=)
NM_139058.3(ARX):c.1338G>T (p.Pro446=)
NM_139058.3(ARX):c.1344G>C (p.Pro448=)
NM_139058.3(ARX):c.1350G>C (p.Ser450=)
NM_139058.3(ARX):c.1362G>A (p.Pro454=)
NM_139058.3(ARX):c.1362G>T (p.Pro454=)
NM_139058.3(ARX):c.1371G>T (p.Gly457=) rs781348930
NM_139058.3(ARX):c.1374G>A (p.Ala458=)
NM_139058.3(ARX):c.138C>A (p.Ala46=)
NM_139058.3(ARX):c.1404G>A (p.Ala468=)
NM_139058.3(ARX):c.141G>A (p.Ala47=)
NM_139058.3(ARX):c.1425T>C (p.Ala475=) rs2147320329
NM_139058.3(ARX):c.1428C>T (p.Phe476=)
NM_139058.3(ARX):c.1443C>T (p.Phe481=)
NM_139058.3(ARX):c.1446C>G (p.Gly482=)
NM_139058.3(ARX):c.1448+11G>C
NM_139058.3(ARX):c.1448+14T>C rs1201797048
NM_139058.3(ARX):c.1448+15C>T rs2147320273
NM_139058.3(ARX):c.1448+16G>A
NM_139058.3(ARX):c.1448+19del
NM_139058.3(ARX):c.1448+20G>A
NM_139058.3(ARX):c.1448+7_1448+9del rs2147320285
NM_139058.3(ARX):c.1448+8G>A
NM_139058.3(ARX):c.1449-10C>T
NM_139058.3(ARX):c.1449-11T>C
NM_139058.3(ARX):c.1449-13G>A
NM_139058.3(ARX):c.1449-20G>A
NM_139058.3(ARX):c.1449-4G>A
NM_139058.3(ARX):c.144G>A (p.Gln48=)
NM_139058.3(ARX):c.1470C>A (p.Pro490=)
NM_139058.3(ARX):c.1473G>C (p.Leu491=)
NM_139058.3(ARX):c.1479C>T (p.Ser493=)
NM_139058.3(ARX):c.1491G>T (p.Ala497=) rs1021002740
NM_139058.3(ARX):c.1494C>G (p.Ala498=)
NM_139058.3(ARX):c.1497G>A (p.Ala499=) rs770318189
NM_139058.3(ARX):c.1497G>C (p.Ala499=) rs770318189
NM_139058.3(ARX):c.1497G>T (p.Ala499=) rs770318189
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe)
NM_139058.3(ARX):c.1500C>G (p.Leu500=)
NM_139058.3(ARX):c.1503G>A (p.Leu501=) rs2147318758
NM_139058.3(ARX):c.1518C>G (p.Pro506=) rs1601945679
NM_139058.3(ARX):c.1530C>A (p.Gly510=)
NM_139058.3(ARX):c.1533A>G (p.Ala511=) rs1556046751
NM_139058.3(ARX):c.1542G>C (p.Ser514=) rs1240255602
NM_139058.3(ARX):c.1566G>C (p.Thr522=)
NM_139058.3(ARX):c.1569G>A (p.Ala523=)
NM_139058.3(ARX):c.1569G>C (p.Ala523=) rs1601945635
NM_139058.3(ARX):c.1575A>T (p.Ala525=)
NM_139058.3(ARX):c.1587C>G (p.Ala529=)
NM_139058.3(ARX):c.1587C>T (p.Ala529=) rs1601945617
NM_139058.3(ARX):c.1590T>A (p.Ser530=)
NM_139058.3(ARX):c.1599C>A (p.Ala533=) rs1057523196
NM_139058.3(ARX):c.1602G>A (p.Ala534=)
NM_139058.3(ARX):c.1602G>C (p.Ala534=)
NM_139058.3(ARX):c.1611C>G (p.Leu537=)
NM_139058.3(ARX):c.1629G>A (p.Ala543=)
NM_139058.3(ARX):c.1638C>G (p.Leu546=)
NM_139058.3(ARX):c.1638C>T (p.Leu546=)
NM_139058.3(ARX):c.1641G>A (p.Thr547=)
NM_139058.3(ARX):c.1659G>A (p.Pro553=)
NM_139058.3(ARX):c.1677G>A (p.Lys559=) rs2147318581
NM_139058.3(ARX):c.174C>A (p.Ala58=)
NM_139058.3(ARX):c.180G>T (p.Pro60=)
NM_139058.3(ARX):c.196+15G>A
NM_139058.3(ARX):c.197-15C>T
NM_139058.3(ARX):c.197-5C>T
NM_139058.3(ARX):c.216C>T (p.Ser72=)
NM_139058.3(ARX):c.219C>T (p.Ala73=)
NM_139058.3(ARX):c.222G>A (p.Pro74=) rs2048714056
NM_139058.3(ARX):c.222G>T (p.Pro74=)
NM_139058.3(ARX):c.240C>T (p.His80=)
NM_139058.3(ARX):c.252G>A (p.Lys84=)
NM_139058.3(ARX):c.264G>A (p.Leu88=) rs1556056513
NM_139058.3(ARX):c.267C>T (p.Tyr89=) rs1060504805
NM_139058.3(ARX):c.273G>A (p.Pro91=)
NM_139058.3(ARX):c.273G>C (p.Pro91=)
NM_139058.3(ARX):c.276C>T (p.Gly92=)
NM_139058.3(ARX):c.279G>A (p.Gly93=) rs1299202405
NM_139058.3(ARX):c.279G>T (p.Gly93=)
NM_139058.3(ARX):c.27C>G (p.Gly9=)
NM_139058.3(ARX):c.291T>C (p.Leu97=) rs2147324418
NM_139058.3(ARX):c.294G>A (p.Gln98=)
NM_139058.3(ARX):c.300G>C (p.Ala100=)
NM_139058.3(ARX):c.303A>C (p.Ala101=)
NM_139058.3(ARX):c.303_305del (p.Ala115del)
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)
NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)
NM_139058.3(ARX):c.306G>A (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306G>C (p.Ala102=)
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.312G>A (p.Ala104=) rs1419161057
NM_139058.3(ARX):c.312G>C (p.Ala104=)
NM_139058.3(ARX):c.312G>T (p.Ala104=)
NM_139058.3(ARX):c.315G>A (p.Ala105=) rs2048713533
NM_139058.3(ARX):c.324G>A (p.Ala108=)
NM_139058.3(ARX):c.333G>C (p.Ala111=)
NM_139058.3(ARX):c.333G>T (p.Ala111=)
NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)
NM_139058.3(ARX):c.33C>T (p.Ser11=)
NM_139058.3(ARX):c.342C>G (p.Ala114=) rs2147324330
NM_139058.3(ARX):c.345C>G (p.Ala115=) rs2147324328
NM_139058.3(ARX):c.348G>A (p.Thr116=) rs1601948719
NM_139058.3(ARX):c.354G>A (p.Thr118=)
NM_139058.3(ARX):c.363A>G (p.Pro121=)
NM_139058.3(ARX):c.387A>C (p.Pro129=)
NM_139058.3(ARX):c.390G>T (p.Pro130=) rs2147324273
NM_139058.3(ARX):c.399G>A (p.Ala133=) rs2147324267
NM_139058.3(ARX):c.414G>A (p.Arg138=)
NM_139058.3(ARX):c.414G>T (p.Arg138=)
NM_139058.3(ARX):c.420C>T (p.Asp140=) rs2147324243
NM_139058.3(ARX):c.426A>C (p.Ala142=)
NM_139058.3(ARX):c.426A>T (p.Ala142=)
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del) rs387906493
NM_139058.3(ARX):c.42C>G (p.Pro14=) rs2048724355
NM_139058.3(ARX):c.42C>T (p.Pro14=)
NM_139058.3(ARX):c.432C>G (p.Ala144=)
NM_139058.3(ARX):c.432C>T (p.Ala144=)
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del) rs2147324216
NM_139058.3(ARX):c.435C>G (p.Ala145=)
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del) rs2048712160
NM_139058.3(ARX):c.441A>C (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del) rs1460450589
NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)
NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del) rs797045302
NM_139058.3(ARX):c.450C>T (p.Ala150=)
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.453G>A (p.Ala151=)
NM_139058.3(ARX):c.453G>C (p.Ala151=) rs878855205
NM_139058.3(ARX):c.456C>A (p.Ala152=)
NM_139058.3(ARX):c.457G>A (p.Ala153Thr) rs2048712192
NM_139058.3(ARX):c.462G>C (p.Ala154=)
NM_139058.3(ARX):c.462G>T (p.Ala154=)
NM_139058.3(ARX):c.492G>A (p.Ala164=)
NM_139058.3(ARX):c.495G>T (p.Pro165=)
NM_139058.3(ARX):c.498G>A (p.Gln166=)
NM_139058.3(ARX):c.501G>A (p.Val167=) rs2048711777
NM_139058.3(ARX):c.504C>T (p.Ser168=)
NM_139058.3(ARX):c.510C>T (p.Ser170=) rs2147324103
NM_139058.3(ARX):c.522G>T (p.Ser174=) rs2048711689
NM_139058.3(ARX):c.528C>T (p.Arg176=)
NM_139058.3(ARX):c.540G>A (p.Ala180=) rs794727309
NM_139058.3(ARX):c.549G>A (p.Val183=)
NM_139058.3(ARX):c.552G>A (p.Pro184=)
NM_139058.3(ARX):c.552G>C (p.Pro184=) rs2147324063
NM_139058.3(ARX):c.561C>G (p.Pro187=)
NM_139058.3(ARX):c.579C>T (p.Gly193=)
NM_139058.3(ARX):c.594C>T (p.Val198=)
NM_139058.3(ARX):c.597G>A (p.Thr199=) rs398124515
NM_139058.3(ARX):c.597G>T (p.Thr199=)
NM_139058.3(ARX):c.615C>T (p.Leu205=)
NM_139058.3(ARX):c.618C>T (p.Gly206=)
NM_139058.3(ARX):c.625G>A (p.Gly209Ser) rs587783203
NM_139058.3(ARX):c.633G>A (p.Pro211=)
NM_139058.3(ARX):c.636C>T (p.Gly212=)
NM_139058.3(ARX):c.645G>C (p.Pro215=)
NM_139058.3(ARX):c.663C>G (p.Thr221=) rs1006404746
NM_139058.3(ARX):c.664G>C (p.Gly222Arg) rs1183516776
NM_139058.3(ARX):c.669C>A (p.Thr223=) rs1473823603
NM_139058.3(ARX):c.669C>G (p.Thr223=)
NM_139058.3(ARX):c.669C>T (p.Thr223=)
NM_139058.3(ARX):c.675C>T (p.Asp225=)
NM_139058.3(ARX):c.681G>A (p.Glu227=)
NM_139058.3(ARX):c.690G>T (p.Leu230=)
NM_139058.3(ARX):c.711G>A (p.Glu237=)
NM_139058.3(ARX):c.714C>T (p.Asp238=)
NM_139058.3(ARX):c.717G>A (p.Glu239=)
NM_139058.3(ARX):c.729G>A (p.Leu243=)
NM_139058.3(ARX):c.747G>A (p.Glu249=) rs797045305
NM_139058.3(ARX):c.756G>C (p.Leu252=)
NM_139058.3(ARX):c.762C>T (p.Asp254=)
NM_139058.3(ARX):c.765C>T (p.Asp255=)
NM_139058.3(ARX):c.774G>C (p.Ala258=)
NM_139058.3(ARX):c.780C>T (p.Leu260=)
NM_139058.3(ARX):c.790C>A (p.Arg264=)
NM_139058.3(ARX):c.810C>T (p.Ala270=)
NM_139058.3(ARX):c.813T>C (p.Thr271=)
NM_139058.3(ARX):c.816C>T (p.Gly272=)
NM_139058.3(ARX):c.822G>A (p.Val274=)
NM_139058.3(ARX):c.825C>A (p.Ala275=)
NM_139058.3(ARX):c.831A>G (p.Ala277=)
NM_139058.3(ARX):c.858C>T (p.Gly286=)
NM_139058.3(ARX):c.865C>T (p.Leu289=)
NM_139058.3(ARX):c.921C>T (p.Gly307=) rs398124519
NM_139058.3(ARX):c.924G>A (p.Glu308=)
NM_139058.3(ARX):c.927C>T (p.Asp309=)
NM_139058.3(ARX):c.930C>T (p.Ser310=) rs1569395305
NM_139058.3(ARX):c.936C>T (p.Cys312=)
NM_139058.3(ARX):c.945G>A (p.Ala315=) rs1310022652
NM_139058.3(ARX):c.948C>T (p.Gly316=)
NM_139058.3(ARX):c.951C>T (p.Ser317=) rs2048708727
NM_139058.3(ARX):c.993C>T (p.Tyr331=)
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)
NM_152309.3(PIK3AP1):c.1032G>A (p.Ala344=) rs562494094
NM_152309.3(PIK3AP1):c.1032G>T (p.Ala344=)
NM_152309.3(PIK3AP1):c.1068C>T (p.Leu356=)
NM_152309.3(PIK3AP1):c.1092G>C (p.Ala364=)
NM_152309.3(PIK3AP1):c.1176C>T (p.Asp392=)
NM_152309.3(PIK3AP1):c.1186-15C>T rs2134228489
NM_152309.3(PIK3AP1):c.1186-17C>T
NM_152309.3(PIK3AP1):c.1227G>C (p.Leu409=) rs2134228418
NM_152309.3(PIK3AP1):c.1233C>T (p.His411=)
NM_152309.3(PIK3AP1):c.1242G>A (p.Glu414=)
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.1311C>T (p.Pro437=)
NM_152309.3(PIK3AP1):c.135C>T (p.His45=)
NM_152309.3(PIK3AP1):c.1376-6T>G
NM_152309.3(PIK3AP1):c.14-5T>C rs2134291677
NM_152309.3(PIK3AP1):c.1461G>A (p.Lys487=) rs2134208806
NM_152309.3(PIK3AP1):c.1471+18G>A
NM_152309.3(PIK3AP1):c.1471+19C>T
NM_152309.3(PIK3AP1):c.1472-5T>C
NM_152309.3(PIK3AP1):c.1527A>G (p.Glu509=) rs1218886811
NM_152309.3(PIK3AP1):c.1536T>G (p.Val512=)
NM_152309.3(PIK3AP1):c.153C>T (p.Ala51=) rs1554963337
NM_152309.3(PIK3AP1):c.156C>T (p.Ser52=)
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.1669+17A>G
NM_152309.3(PIK3AP1):c.1669+7A>G rs2134207219
NM_152309.3(PIK3AP1):c.1670-9A>T
NM_152309.3(PIK3AP1):c.1695G>A (p.Arg565=) rs922297353
NM_152309.3(PIK3AP1):c.1728C>T (p.Ile576=) rs1554954774
NM_152309.3(PIK3AP1):c.1740G>A (p.Pro580=)
NM_152309.3(PIK3AP1):c.1857T>C (p.Ile619=) rs2134201181
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.192C>T (p.Thr64=) rs755769271
NM_152309.3(PIK3AP1):c.1965C>T (p.Asp655=)
NM_152309.3(PIK3AP1):c.1983G>A (p.Gln661=)
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.2100A>G (p.Lys700=) rs2134189611
NM_152309.3(PIK3AP1):c.2116A>C (p.Arg706=)
NM_152309.3(PIK3AP1):c.2121G>A (p.Thr707=)
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.2187C>T (p.Arg729=) rs2134183432
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.2242-6del rs2134181291
NM_152309.3(PIK3AP1):c.2283C>T (p.Gly761=)
NM_152309.3(PIK3AP1):c.2319C>G (p.Leu773=) rs777233199
NM_152309.3(PIK3AP1):c.2352C>T (p.Ala784=) rs1390796047
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.2361-17C>A rs2134172614
NM_152309.3(PIK3AP1):c.253C>T (p.Leu85=)
NM_152309.3(PIK3AP1):c.333C>T (p.Phe111=)
NM_152309.3(PIK3AP1):c.381C>T (p.Asp127=) rs1206726427
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.450C>T (p.Val150=)
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.510G>C (p.Pro170=) rs761536697
NM_152309.3(PIK3AP1):c.522A>C (p.Ser174=) rs776181166
NM_152309.3(PIK3AP1):c.528G>C (p.Gly176=)
NM_152309.3(PIK3AP1):c.612C>T (p.Asp204=)
NM_152309.3(PIK3AP1):c.621G>T (p.Ala207=)
NM_152309.3(PIK3AP1):c.642T>A (p.Pro214=) rs752472885
NM_152309.3(PIK3AP1):c.690C>T (p.Tyr230=) rs2134235520
NM_152309.3(PIK3AP1):c.712+14T>G rs2134235478
NM_152309.3(PIK3AP1):c.713-19T>C
NM_152309.3(PIK3AP1):c.79C>T (p.Leu27=) rs2134291563
NM_152309.3(PIK3AP1):c.813T>C (p.Asn271=)
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.898C>T (p.Leu300=) rs1427646407
NM_152309.3(PIK3AP1):c.988+11A>G
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_173354.5(SIK1):c.1050T>C (p.Asn350=) rs766069194
NM_173354.5(SIK1):c.1086G>A (p.Pro362=) rs139979941
NM_173354.5(SIK1):c.1089G>A (p.Arg363=)
NM_173354.5(SIK1):c.1095G>A (p.Arg365=)
NM_173354.5(SIK1):c.1101G>A (p.Ser367=) rs751045541
NM_173354.5(SIK1):c.1119+11G>A
NM_173354.5(SIK1):c.1119+13A>C rs2146471945
NM_173354.5(SIK1):c.1119+14G>A rs1194217813
NM_173354.5(SIK1):c.1119+19C>T
NM_173354.5(SIK1):c.1119+20T>A
NM_173354.5(SIK1):c.1119+5_1119+6dup rs750333204
NM_173354.5(SIK1):c.1120-15G>A
NM_173354.5(SIK1):c.1120-4C>G rs761968823
NM_173354.5(SIK1):c.1144G>A (p.Asp382Asn) rs770570987
NM_173354.5(SIK1):c.1149T>C (p.Pro383=)
NM_173354.5(SIK1):c.1155A>C (p.Arg385=) rs2081047729
NM_173354.5(SIK1):c.1179G>A (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.1179G>T (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.117G>C (p.Ala39=) rs1555891652
NM_173354.5(SIK1):c.1191G>C (p.Val397=) rs1054134213
NM_173354.5(SIK1):c.1209C>T (p.Ala403=)
NM_173354.5(SIK1):c.1230G>A (p.Gln410=)
NM_173354.5(SIK1):c.123G>A (p.Val41=) rs2146476379
NM_173354.5(SIK1):c.1245+16G>T
NM_173354.5(SIK1):c.1245+19T>A rs2146471245
NM_173354.5(SIK1):c.1245+20G>A
NM_173354.5(SIK1):c.1246-10T>G
NM_173354.5(SIK1):c.1246-15G>A
NM_173354.5(SIK1):c.1246-17G>C rs753969379
NM_173354.5(SIK1):c.1246-17G>T
NM_173354.5(SIK1):c.1246-9C>G
NM_173354.5(SIK1):c.1260G>C (p.Pro420=) rs776487308
NM_173354.5(SIK1):c.1275C>T (p.Cys425=) rs1297686739
NM_173354.5(SIK1):c.1300G>A (p.Val434Met) rs111780079
NM_173354.5(SIK1):c.1300G>C (p.Val434Leu) rs111780079
NM_173354.5(SIK1):c.1302G>T (p.Val434=)
NM_173354.5(SIK1):c.1338G>A (p.Glu446=) rs1601508239
NM_173354.5(SIK1):c.1353G>A (p.Gly451=) rs2146470893
NM_173354.5(SIK1):c.1362A>G (p.Leu454=)
NM_173354.5(SIK1):c.1368G>A (p.Glu456=) rs1555891099
NM_173354.5(SIK1):c.1371G>A (p.Glu457=)
NM_173354.5(SIK1):c.1398C>T (p.Ser466=)
NM_173354.5(SIK1):c.1400_1401delinsTT (p.Ser467Ile) rs2146470803
NM_173354.5(SIK1):c.1410G>C (p.Arg470=) rs1032796020
NM_173354.5(SIK1):c.1413G>A (p.Arg471=) rs2146470778
NM_173354.5(SIK1):c.1419C>T (p.Thr473=) rs1320930912
NM_173354.5(SIK1):c.1424C>T (p.Ala475Val) rs1163668338
NM_173354.5(SIK1):c.1425C>G (p.Ala475=)
NM_173354.5(SIK1):c.1425C>T (p.Ala475=)
NM_173354.5(SIK1):c.1434C>T (p.Ser478=) rs2146470699
NM_173354.5(SIK1):c.1449A>G (p.Pro483=)
NM_173354.5(SIK1):c.1449A>T (p.Pro483=) rs1251367400
NM_173354.5(SIK1):c.1462+12C>G
NM_173354.5(SIK1):c.1462+12C>T
NM_173354.5(SIK1):c.1462+18C>T rs1038464471
NM_173354.5(SIK1):c.1462+19C>T rs2146470601
NM_173354.5(SIK1):c.1462+20C>G rs2146470598
NM_173354.5(SIK1):c.1462+9C>A rs1324778844
NM_173354.5(SIK1):c.1462T>G (p.Cys488Gly) rs2081044642
NM_173354.5(SIK1):c.1463-10C>A
NM_173354.5(SIK1):c.1463-10C>T rs75613088
NM_173354.5(SIK1):c.1463-15G>A rs377350792
NM_173354.5(SIK1):c.1463-15G>C rs377350792
NM_173354.5(SIK1):c.1463-27_1463-19dup rs755251328
NM_173354.5(SIK1):c.1463-5C>A rs375664122
NM_173354.5(SIK1):c.1463-5C>G rs375664122
NM_173354.5(SIK1):c.1463-5C>T rs375664122
NM_173354.5(SIK1):c.1463-6C>A rs148529513
NM_173354.5(SIK1):c.1463-6C>G rs148529513
NM_173354.5(SIK1):c.1463-6C>T rs148529513
NM_173354.5(SIK1):c.1463-7C>G rs142866662
NM_173354.5(SIK1):c.1463-8C>T rs2146470344
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_173354.5(SIK1):c.1475C>T (p.Ser492Phe) rs2081043276
NM_173354.5(SIK1):c.1479C>G (p.Pro493=) rs778877054
NM_173354.5(SIK1):c.1482C>T (p.Ser494=) rs1555891046
NM_173354.5(SIK1):c.1515T>C (p.Ser505=) rs753009708
NM_173354.5(SIK1):c.1530C>G (p.Thr510=) rs759750280
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) rs200402559
NM_173354.5(SIK1):c.1552G>A (p.Ala518Thr) rs367547841
NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro) rs367547841
NM_173354.5(SIK1):c.1554G>A (p.Ala518=) rs34487963
NM_173354.5(SIK1):c.156+10G>A rs1601511858
NM_173354.5(SIK1):c.156+13G>A rs1193250951
NM_173354.5(SIK1):c.156+20C>T
NM_173354.5(SIK1):c.156+7G>A
NM_173354.5(SIK1):c.1563T>C (p.Ser521=) rs2146470093
NM_173354.5(SIK1):c.157-10A>G rs1237472803
NM_173354.5(SIK1):c.157-20T>A
NM_173354.5(SIK1):c.157-5del
NM_173354.5(SIK1):c.157-9_157-8dup rs753580895
NM_173354.5(SIK1):c.1572G>A (p.Pro524=)
NM_173354.5(SIK1):c.1581G>A (p.Gln527=) rs1187631793
NM_173354.5(SIK1):c.1582G>A (p.Gly528Arg)
NM_173354.5(SIK1):c.1587G>A (p.Leu529=) rs1460477463
NM_173354.5(SIK1):c.15G>C (p.Ser5=)
NM_173354.5(SIK1):c.1601C>T (p.Ser534Phe) rs34704670
NM_173354.5(SIK1):c.1605G>T (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.1635G>A (p.Ser545=) rs113076434
NM_173354.5(SIK1):c.1635G>T (p.Ser545=) rs113076434
NM_173354.5(SIK1):c.1668G>T (p.Gly556=)
NM_173354.5(SIK1):c.1692C>T (p.Leu564=)
NM_173354.5(SIK1):c.1695T>C (p.Pro565=)
NM_173354.5(SIK1):c.1744+10G>C
NM_173354.5(SIK1):c.1761G>A (p.Arg587=)
NM_173354.5(SIK1):c.1770G>A (p.Leu590=) rs1601507060
NM_173354.5(SIK1):c.1788C>T (p.Thr596=)
NM_173354.5(SIK1):c.1830C>T (p.Arg610=) rs1043309128
NM_173354.5(SIK1):c.1869C>A (p.Gly623=)
NM_173354.5(SIK1):c.1869C>T (p.Gly623=) rs369496134
NM_173354.5(SIK1):c.1908C>T (p.Gly636=)
NM_173354.5(SIK1):c.1909C>T (p.Leu637=)
NM_173354.5(SIK1):c.1911G>A (p.Leu637=) rs2081037813
NM_173354.5(SIK1):c.1914C>T (p.His638=) rs781091892
NM_173354.5(SIK1):c.1923A>G (p.Ala641=)
NM_173354.5(SIK1):c.1962G>A (p.Val654=)
NM_173354.5(SIK1):c.1976+11C>T
NM_173354.5(SIK1):c.1976+12C>G
NM_173354.5(SIK1):c.1976+13C>T
NM_173354.5(SIK1):c.1976+15C>A
NM_173354.5(SIK1):c.1976+15C>G
NM_173354.5(SIK1):c.1976+15C>T rs200878902
NM_173354.5(SIK1):c.1976+16G>A
NM_173354.5(SIK1):c.1976+19C>T
NM_173354.5(SIK1):c.1976+6dup
NM_173354.5(SIK1):c.1976+8C>T rs2146468560
NM_173354.5(SIK1):c.1977-13T>C
NM_173354.5(SIK1):c.1977-14C>T rs1009274600
NM_173354.5(SIK1):c.1977-14del rs2146468167
NM_173354.5(SIK1):c.1977-16T>G
NM_173354.5(SIK1):c.198C>T (p.Ser66=)
NM_173354.5(SIK1):c.1992G>A (p.Gln664=) rs1268323259
NM_173354.5(SIK1):c.2001G>A (p.Pro667=) rs778549988
NM_173354.5(SIK1):c.2004C>T (p.Ala668=) rs1434599598
NM_173354.5(SIK1):c.2013C>A (p.Pro671=) rs757730365
NM_173354.5(SIK1):c.2013C>G (p.Pro671=) rs757730365
NM_173354.5(SIK1):c.2016C>G (p.Gly672=)
NM_173354.5(SIK1):c.2037G>A (p.Pro679=) rs943521135
NM_173354.5(SIK1):c.204G>A (p.Leu68=) rs144182369
NM_173354.5(SIK1):c.2052T>C (p.Phe684=) rs929370860
NM_173354.5(SIK1):c.2058C>T (p.Ile686=) rs1434388095
NM_173354.5(SIK1):c.2073C>A (p.Gly691=) rs2146467907
NM_173354.5(SIK1):c.2086C>T (p.Pro696Ser) rs778637849
NM_173354.5(SIK1):c.2093C>T (p.Pro698Leu) rs757755073
NM_173354.5(SIK1):c.2112G>C (p.Ser704=) rs773124142
NM_173354.5(SIK1):c.2115G>A (p.Gly705=)
NM_173354.5(SIK1):c.2118C>T (p.Leu706=) rs550744437
NM_173354.5(SIK1):c.211dup (p.Ile71fs) rs2146476025
NM_173354.5(SIK1):c.2127G>A (p.Leu709=) rs1173555669
NM_173354.5(SIK1):c.2133C>G (p.Pro711=) rs2146467763
NM_173354.5(SIK1):c.2148C>G (p.Thr716=)
NM_173354.5(SIK1):c.2151C>G (p.Gly717=) rs532529872
NM_173354.5(SIK1):c.2160G>A (p.Pro720=)
NM_173354.5(SIK1):c.2166C>T (p.Ala722=) rs994009828
NM_173354.5(SIK1):c.2172G>A (p.Ala724=) rs897883794
NM_173354.5(SIK1):c.2182C>T (p.Leu728=) rs926567754
NM_173354.5(SIK1):c.2196G>A (p.Leu732=)
NM_173354.5(SIK1):c.2208C>G (p.Thr736=) rs377024605
NM_173354.5(SIK1):c.2211C>T (p.Gly737=) rs754064357
NM_173354.5(SIK1):c.2220C>T (p.Ala740=)
NM_173354.5(SIK1):c.2226C>G (p.Pro742=) rs199872172
NM_173354.5(SIK1):c.2238A>G (p.Pro746=)
NM_173354.5(SIK1):c.2250C>T (p.Ala750=)
NM_173354.5(SIK1):c.2311C>T (p.Leu771=) rs2146467426
NM_173354.5(SIK1):c.2334G>A (p.Thr778=) rs149343716
NM_173354.5(SIK1):c.2340C>T (p.Val780=) rs2146467388
NM_173354.5(SIK1):c.237G>A (p.Lys79=)
NM_173354.5(SIK1):c.24C>T (p.Ser8=)
NM_173354.5(SIK1):c.252A>G (p.Pro84=)
NM_173354.5(SIK1):c.273+13C>T
NM_173354.5(SIK1):c.273+15T>C rs201358826
NM_173354.5(SIK1):c.273+15T>G rs201358826
NM_173354.5(SIK1):c.273+16G>A rs1311079707
NM_173354.5(SIK1):c.273+7G>A rs2146475913
NM_173354.5(SIK1):c.273+8G>A rs370279333
NM_173354.5(SIK1):c.274-5T>C
NM_173354.5(SIK1):c.274-6C>A
NM_173354.5(SIK1):c.282A>G (p.Glu94=)
NM_173354.5(SIK1):c.285A>G (p.Thr95=) rs2146474546
NM_173354.5(SIK1):c.337+10A>G
NM_173354.5(SIK1):c.337+11C>T
NM_173354.5(SIK1):c.337+17T>C rs2146474455
NM_173354.5(SIK1):c.337+19C>T
NM_173354.5(SIK1):c.337+20A>G
NM_173354.5(SIK1):c.338-14T>C rs2146474287
NM_173354.5(SIK1):c.338-18T>C
NM_173354.5(SIK1):c.338-25_338-20del
NM_173354.5(SIK1):c.33C>A (p.Pro11=)
NM_173354.5(SIK1):c.348T>G (p.Thr116=) rs2146474230
NM_173354.5(SIK1):c.357G>A (p.Gly119=)
NM_173354.5(SIK1):c.36G>C (p.Ala12=) rs763900549
NM_173354.5(SIK1):c.377C>T (p.Ala126Val) rs2081057135
NM_173354.5(SIK1):c.381G>A (p.Arg127=) rs2146474165
NM_173354.5(SIK1):c.400C>T (p.Leu134=) rs1601510250
NM_173354.5(SIK1):c.402G>A (p.Leu134=)
NM_173354.5(SIK1):c.402G>C (p.Leu134=) rs925035221
NM_173354.5(SIK1):c.424G>C (p.Asp142His) rs45491503
NM_173354.5(SIK1):c.466C>T (p.Leu156=) rs1569016426
NM_173354.5(SIK1):c.468G>A (p.Leu156=) rs2081056659
NM_173354.5(SIK1):c.499+10_499+11delinsCC rs2146474030
NM_173354.5(SIK1):c.499+13C>T
NM_173354.5(SIK1):c.499+13_499+55del rs2146473974
NM_173354.5(SIK1):c.499+16G>A
NM_173354.5(SIK1):c.499+17G>A
NM_173354.5(SIK1):c.499+9G>T rs772859594
NM_173354.5(SIK1):c.500-6G>A
NM_173354.5(SIK1):c.500-6G>T rs537948000
NM_173354.5(SIK1):c.500-7C>T
NM_173354.5(SIK1):c.501T>C (p.Asp167=)
NM_173354.5(SIK1):c.513G>C (p.Gly171=) rs2081055591
NM_173354.5(SIK1):c.525G>A (p.Lys175=)
NM_173354.5(SIK1):c.534G>A (p.Glu178=)
NM_173354.5(SIK1):c.552T>C (p.Cys184=) rs2146473768
NM_173354.5(SIK1):c.564G>A (p.Pro188=) rs373343445
NM_173354.5(SIK1):c.564G>T (p.Pro188=) rs373343445
NM_173354.5(SIK1):c.570C>T (p.Ala190=)
NM_173354.5(SIK1):c.573C>T (p.Ala191=) rs766226295
NM_173354.5(SIK1):c.57G>A (p.Gln19=)
NM_173354.5(SIK1):c.591G>C (p.Gly197=) rs1463286648
NM_173354.5(SIK1):c.600T>C (p.Tyr200=) rs2146473660
NM_173354.5(SIK1):c.606C>A (p.Gly202=) rs2146473652
NM_173354.5(SIK1):c.624+12G>A
NM_173354.5(SIK1):c.624+19C>G
NM_173354.5(SIK1):c.624+20A>G
NM_173354.5(SIK1):c.625-12G>C rs756924717
NM_173354.5(SIK1):c.625-6C>T
NM_173354.5(SIK1):c.625-9C>T rs2146473425
NM_173354.5(SIK1):c.633C>T (p.Gly211=)
NM_173354.5(SIK1):c.63C>A (p.Pro21=) rs2146476475
NM_173354.5(SIK1):c.645C>T (p.Tyr215=)
NM_173354.5(SIK1):c.648C>T (p.Val216=)
NM_173354.5(SIK1):c.654C>T (p.Val218=)
NM_173354.5(SIK1):c.657C>T (p.Cys219=)
NM_173354.5(SIK1):c.666C>T (p.Leu222=) rs2146473356
NM_173354.5(SIK1):c.669C>T (p.Pro223=) rs138329388
NM_173354.5(SIK1):c.693G>C (p.Thr231=)
NM_173354.5(SIK1):c.702G>A (p.Gln234=) rs2146473256
NM_173354.5(SIK1):c.720C>T (p.Arg240=)
NM_173354.5(SIK1):c.748+16T>C
NM_173354.5(SIK1):c.748+17C>G
NM_173354.5(SIK1):c.748+20del
NM_173354.5(SIK1):c.749-11C>T
NM_173354.5(SIK1):c.749-4A>C
NM_173354.5(SIK1):c.765C>A (p.Ile255=)
NM_173354.5(SIK1):c.801C>T (p.Ile267=)
NM_173354.5(SIK1):c.804C>A (p.Thr268=) rs2146472763
NM_173354.5(SIK1):c.840T>C (p.Ala280=) rs779456208
NM_173354.5(SIK1):c.849C>T (p.Cys283=) rs528484611
NM_173354.5(SIK1):c.850T>C (p.Leu284=) rs2146472664
NM_173354.5(SIK1):c.855G>T (p.Pro285=) rs549052367
NM_173354.5(SIK1):c.871G>A (p.Ala291Thr) rs201889040
NM_173354.5(SIK1):c.87C>T (p.Ile29=)
NM_173354.5(SIK1):c.891C>T (p.Tyr297=)
NM_173354.5(SIK1):c.894C>G (p.Thr298=)
NM_173354.5(SIK1):c.900C>T (p.Asn300=) rs2146472549
NM_173354.5(SIK1):c.901C>T (p.Leu301=) rs1467859908
NM_173354.5(SIK1):c.90G>A (p.Glu30=)
NM_173354.5(SIK1):c.912C>T (p.Tyr304=) rs1294261387
NM_173354.5(SIK1):c.924G>T (p.Ala308=) rs199738681
NM_173354.5(SIK1):c.943C>T (p.Leu315=) rs763874876
NM_173354.5(SIK1):c.948C>A (p.Gly316=)
NM_173354.5(SIK1):c.972+10G>A rs2146472401
NM_173354.5(SIK1):c.972+13_972+27del
NM_173354.5(SIK1):c.972+14C>T
NM_173354.5(SIK1):c.973-13C>T
NM_173354.5(SIK1):c.973-14C>T
NM_173354.5(SIK1):c.973-16C>T rs2146472238
NM_173354.5(SIK1):c.973-5C>G
NM_173354.5(SIK1):c.993T>C (p.Tyr331=)
NM_173354.5(SIK1):c.99G>A (p.Leu33=) rs1220306715
NM_173354.5(SIK1):c.9C>T (p.Ile3=) rs1307688110
NM_198904.4(GABRG2):c.*441T>C rs188825588
NM_198904.4(GABRG2):c.102C>T (p.Tyr34=) rs780713471
NM_198904.4(GABRG2):c.1056G>A (p.Glu352=) rs2113633277
NM_198904.4(GABRG2):c.107+13C>A
NM_198904.4(GABRG2):c.107+15T>G
NM_198904.4(GABRG2):c.107+8G>A rs2113081716
NM_198904.4(GABRG2):c.108-12G>A
NM_198904.4(GABRG2):c.108-14A>G
NM_198904.4(GABRG2):c.108-15T>C
NM_198904.4(GABRG2):c.108-17A>G rs2113297683
NM_198904.4(GABRG2):c.1116GAA[1] (p.Lys374del)
NM_198904.4(GABRG2):c.1128+11T>C
NM_198904.4(GABRG2):c.1153-17C>T
NM_198904.4(GABRG2):c.1153-4C>G
NM_198904.4(GABRG2):c.1153-8C>G rs771660227
NM_198904.4(GABRG2):c.1173C>A (p.Arg391=)
NM_198904.4(GABRG2):c.1203T>C (p.Asn401=)
NM_198904.4(GABRG2):c.1302A>T (p.Thr434=)
NM_198904.4(GABRG2):c.1305A>G (p.Gly435=) rs2113651080
NM_198904.4(GABRG2):c.1359T>G (p.Ala453=)
NM_198904.4(GABRG2):c.1362G>C (p.Arg454=) rs2113651413
NM_198904.4(GABRG2):c.1365C>A (p.Ile455=) rs1242649084
NM_198904.4(GABRG2):c.1398G>T (p.Leu466=) rs1581463326
NM_198904.4(GABRG2):c.1404T>C (p.Tyr468=) rs1220037383
NM_198904.4(GABRG2):c.140A>G (p.Glu47Gly) rs1760798437
NM_198904.4(GABRG2):c.141A>G (p.Glu47=)
NM_198904.4(GABRG2):c.1422C>T (p.Tyr474=)
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.150T>A (p.Ala50=)
NM_198904.4(GABRG2):c.168C>T (p.Val56=) rs2113298209
NM_198904.4(GABRG2):c.184C>G (p.Pro62Ala) rs1184632361
NM_198904.4(GABRG2):c.185C>G (p.Pro62Arg) rs771317794
NM_198904.4(GABRG2):c.243T>C (p.Leu81=) rs143295869
NM_198904.4(GABRG2):c.260-11T>C
NM_198904.4(GABRG2):c.260-16_260-15del rs747283752
NM_198904.4(GABRG2):c.260-8C>G rs201449891
NM_198904.4(GABRG2):c.260-9T>C rs1581345919
NM_198904.4(GABRG2):c.28G>A (p.Gly10Arg) rs1262705178
NM_198904.4(GABRG2):c.327+12A>C rs188717038
NM_198904.4(GABRG2):c.327+12A>G
NM_198904.4(GABRG2):c.339T>C (p.Ile113=)
NM_198904.4(GABRG2):c.33C>T (p.Ser11=)
NM_198904.4(GABRG2):c.381A>G (p.Lys127=)
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198904.4(GABRG2):c.441T>C (p.Ile147=)
NM_198904.4(GABRG2):c.453C>T (p.Phe151=)
NM_198904.4(GABRG2):c.462T>C (p.Asn154=)
NM_198904.4(GABRG2):c.495C>A (p.Thr165=)
NM_198904.4(GABRG2):c.548+8T>C
NM_198904.4(GABRG2):c.549-6A>T
NM_198904.4(GABRG2):c.567G>A (p.Glu189=) rs868460983
NM_198904.4(GABRG2):c.573A>G (p.Gln191=) rs1361752531
NM_198904.4(GABRG2):c.632-16T>C
NM_198904.4(GABRG2):c.632-4G>A
NM_198904.4(GABRG2):c.632-5G>T
NM_198904.4(GABRG2):c.632-7dup
NM_198904.4(GABRG2):c.632-8C>T rs779617978
NM_198904.4(GABRG2):c.642A>C (p.Pro214=)
NM_198904.4(GABRG2):c.669G>A (p.Lys223=)
NM_198904.4(GABRG2):c.723A>G (p.Ser241=) rs1761622061
NM_198904.4(GABRG2):c.72G>C (p.Thr24=) rs1343042707
NM_198904.4(GABRG2):c.733C>T (p.Leu245=)
NM_198904.4(GABRG2):c.744C>T (p.Thr248=)
NM_198904.4(GABRG2):c.762A>G (p.Thr254=)
NM_198904.4(GABRG2):c.765T>G (p.Thr255=) rs2113371201
NM_198904.4(GABRG2):c.769+17A>G
NM_198904.4(GABRG2):c.769+9C>A rs1761626925
NM_198904.4(GABRG2):c.770-17T>C
NM_198904.4(GABRG2):c.770-9C>A
NM_198904.4(GABRG2):c.774T>C (p.Asp258=)
NM_198904.4(GABRG2):c.801T>C (p.Asp267=)
NM_198904.4(GABRG2):c.804G>A (p.Leu268=)
NM_198904.4(GABRG2):c.831C>T (p.Ile277=) rs1764620798
NM_198904.4(GABRG2):c.843C>A (p.Ile281=) rs749127891
NM_198904.4(GABRG2):c.843C>T (p.Ile281=)
NM_198904.4(GABRG2):c.84G>C (p.Leu28=) rs1554096092
NM_198904.4(GABRG2):c.861C>T (p.Val287=) rs778780107
NM_198904.4(GABRG2):c.888C>A (p.Ile296=)
NM_198904.4(GABRG2):c.90G>C (p.Leu30=) rs115976622
NM_198904.4(GABRG2):c.915A>G (p.Thr305=) rs1398214382
NM_198904.4(GABRG2):c.915A>T (p.Thr305=)
NM_198904.4(GABRG2):c.922+17T>G
NM_198904.4(GABRG2):c.922+18A>C
NM_198904.4(GABRG2):c.923-12A>G
NM_198904.4(GABRG2):c.93G>A (p.Leu31=) rs2113081300
NM_198904.4(GABRG2):c.948C>A (p.Thr316=) rs1207623268
NM_198904.4(GABRG2):c.996C>T (p.Val332=) rs138964417
NM_198904.4(GABRG2):c.9G>A (p.Ser3=) rs55716248

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