ClinVar Miner

List of variants reported as likely benign for infancy electroclinical syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3653
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) rs201955244 0.00198
NM_173354.5(SIK1):c.859_861del (p.Pro287del) rs374476526 0.00195
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) rs112011493 0.00172
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_152309.3(PIK3AP1):c.217G>T (p.Ala73Ser) rs146527410 0.00156
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
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.1100C>T (p.Ser367Leu) rs146018004 0.00118
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser) rs140744818 0.00085
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_173354.5(SIK1):c.881C>T (p.Ala294Val) rs141114345 0.00077
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met) rs201616456 0.00076
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_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 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_152309.3(PIK3AP1):c.1412T>A (p.Ile471Asn) rs145525421 0.00062
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_016373.4(WWOX):c.957C>T (p.Asn319=) rs144417100 0.00054
NM_016373.4(WWOX):c.60G>C (p.Pro20=) rs376165565 0.00051
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_015192.4(PLCB1):c.3039G>A (p.Gln1013=) rs139859188 0.00049
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 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_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_000834.5(GRIN2B):c.812C>T (p.Ala271Val) rs138098032 0.00041
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_016373.4(WWOX):c.173-11T>C rs370729028 0.00039
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_173354.5(SIK1):c.1404G>A (p.Thr468=) rs147101451 0.00035
NM_152309.3(PIK3AP1):c.1495C>T (p.Leu499=) rs199720844 0.00034
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_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_007254.4(PNKP):c.1386+41_1386+42del rs765720389 0.00030
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 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_152309.3(PIK3AP1):c.774C>T (p.Thr258=) rs199687287 0.00029
NM_173354.5(SIK1):c.2175G>A (p.Ala725=) rs372469113 0.00029
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_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 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_000834.5(GRIN2B):c.3549G>A (p.Thr1183=) rs201568782 0.00024
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700 0.00024
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 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_015192.4(PLCB1):c.696-18G>T rs371748595 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
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_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015 0.00021
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628 0.00021
NM_007254.4(PNKP):c.1387-37A>T rs530790386 0.00020
NM_152309.3(PIK3AP1):c.568-16C>T rs369779741 0.00020
NM_000834.5(GRIN2B):c.2813G>A (p.Arg938His) rs150445188 0.00019
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102 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_016373.4(WWOX):c.723G>A (p.Gln241=) rs191029309 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_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_007254.4(PNKP):c.1298+14G>A rs559532107 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_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 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_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_015192.4(PLCB1):c.1250+17T>A rs776777689 0.00016
NM_152309.3(PIK3AP1):c.285G>T (p.Pro95=) rs777298829 0.00016
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_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_007254.4(PNKP):c.1448+13A>G rs748882543 0.00014
NM_152309.3(PIK3AP1):c.1492A>G (p.Asn498Asp) rs746475285 0.00014
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841 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_173354.5(SIK1):c.1198G>T (p.Val400Phe) rs746671842 0.00013
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_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_139058.3(ARX):c.1599C>G (p.Ala533=) rs1057523196 0.00012
NM_139058.3(ARX):c.708T>C (p.Asp236=) rs763458576 0.00012
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_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935 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_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_152309.3(PIK3AP1):c.1941+13G>A rs369291853 0.00011
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) rs528905001 0.00011
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.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_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_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_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_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001323289.2(CDKL5):c.554+10C>T rs755385076 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_173354.5(SIK1):c.1069G>A (p.Gly357Arg) rs771103431 0.00009
NM_173354.5(SIK1):c.807C>T (p.Ile269=) rs761649307 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.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_001199107.2(TBC1D24):c.1143-5G>A rs754105574 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=) rs267608490 0.00008
NM_015192.4(PLCB1):c.100-17T>C rs370810694 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_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_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_001323289.2(CDKL5):c.1233C>T (p.Ala411=) rs907733307 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_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_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_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 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_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_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_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.972+15A>G rs769126173 0.00006
NM_173354.5(SIK1):c.999C>T (p.His333=) rs758222972 0.00006
NM_000330.4(RS1):c.184+3143G>T rs757994307 0.00005
NM_000330.4(RS1):c.326+1115G>A rs951430019 0.00005
NM_000834.5(GRIN2B):c.1500+7G>A rs201094275 0.00005
NM_000834.5(GRIN2B):c.1780+19G>A rs201169461 0.00005
NM_000834.5(GRIN2B):c.1875G>C (p.Gly625=) rs201095094 0.00005
NM_000834.5(GRIN2B):c.2359+16G>A rs781365670 0.00005
NM_000834.5(GRIN2B):c.3174C>T (p.Ser1058=) rs772364390 0.00005
NM_000834.5(GRIN2B):c.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_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_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_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_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_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
NC_000023.11:g.18646040A>G rs774743991 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_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_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.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_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_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_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_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
NC_000023.11:g.18653424C>A rs1247449149 0.00003
NC_000023.11:g.18653448G>A rs763292733 0.00003
NM_000834.5(GRIN2B):c.1125+5G>A rs3751257 0.00003
NM_000834.5(GRIN2B):c.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_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_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_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_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_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
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_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.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_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_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_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_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_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
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_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.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_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_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.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_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_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_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
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_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.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.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.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.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.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_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_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.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.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.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.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_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_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_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_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_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.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

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