ClinVar Miner

List of variants reported as uncertain significance for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3911
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.-330C>T rs532302075 0.00673
NM_015192.4(PLCB1):c.*158T>A rs41275592 0.00287
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.*991A>C rs139726114 0.00202
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_015192.4(PLCB1):c.1678+10C>T rs369652433 0.00131
NM_015192.4(PLCB1):c.1336-13T>C rs185405599 0.00126
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_015192.4(PLCB1):c.-168G>A rs548635433 0.00108
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900 0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867 0.00067
NM_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.-51-1734del rs886054994 0.00064
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_015192.4(PLCB1):c.*2847T>A rs551121948 0.00061
NM_015192.4(PLCB1):c.*3046A>C rs557097380 0.00059
NM_015192.4(PLCB1):c.*1644T>C rs193061195 0.00051
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg) rs139919081 0.00047
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_001040142.2(SCN2A):c.*2374T>G rs544322279 0.00039
NM_001040142.2(SCN2A):c.*2039A>G rs554913735 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734 0.00037
NM_015192.4(PLCB1):c.*2565G>A rs566701784 0.00037
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser) rs201606637 0.00036
NM_016373.4(WWOX):c.998G>A (p.Arg333His) rs184773837 0.00036
NM_001040142.2(SCN2A):c.-51-1762A>T rs1208312868 0.00035
NM_015192.4(PLCB1):c.*1724G>A rs546143014 0.00034
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706 0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842 0.00033
NM_015192.4(PLCB1):c.*2789G>A rs188626146 0.00033
NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser) rs138077430 0.00032
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val) rs200815431 0.00032
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_152309.3(PIK3AP1):c.2177C>T (p.Thr726Ile) rs113976248 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_015192.4(PLCB1):c.*1871G>A rs200559753 0.00027
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys) rs142806268 0.00026
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826 0.00026
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876 0.00025
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly) rs369959670 0.00025
NM_015192.4(PLCB1):c.*295T>C rs376353155 0.00024
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys) rs193001955 0.00024
NM_152309.3(PIK3AP1):c.1555G>A (p.Asp519Asn) rs370707189 0.00024
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_139058.3(ARX):c.554C>A (p.Pro185Gln) rs925128416 0.00021
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs) rs1474186338 0.00019
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_015192.4(PLCB1):c.*1252T>A rs537113179 0.00017
NM_015192.4(PLCB1):c.1433G>T (p.Gly478Val) rs146833633 0.00017
NM_015192.4(PLCB1):c.3347C>T (p.Ala1116Val) rs148936543 0.00017
NM_001040142.2(SCN2A):c.*2358A>C rs191911206 0.00016
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956 0.00016
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_015192.4(PLCB1):c.*1848A>T rs773609998 0.00016
NM_015192.4(PLCB1):c.1489T>G (p.Phe497Val) rs752634021 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059 0.00016
NM_016373.4(WWOX):c.301C>G (p.Pro101Ala) rs574637594 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His) rs201718767 0.00015
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281 0.00015
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798 0.00015
NM_015192.4(PLCB1):c.3569C>G (p.Pro1190Arg) rs200781362 0.00015
NM_001040142.2(SCN2A):c.*88G>A rs574867892 0.00014
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg) rs949517384 0.00014
NM_015192.4(PLCB1):c.*1979T>G rs1002235917 0.00014
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys) rs201228765 0.00014
NM_016373.4(WWOX):c.946G>C (p.Val316Leu) rs201941494 0.00014
NM_021927.3(GUF1):c.514C>G (p.Gln172Glu) rs116300982 0.00014
NM_152309.3(PIK3AP1):c.508C>A (p.Pro170Thr) rs150666185 0.00014
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733 0.00013
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_016373.4(WWOX):c.1078G>A (p.Val360Met) rs200019508 0.00013
NM_152309.3(PIK3AP1):c.2120C>T (p.Thr707Met) rs201595275 0.00013
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_007254.4(PNKP):c.1211G>A (p.Arg404His) rs549069697 0.00012
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.2354C>T (p.Thr785Met) rs202199288 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp) rs374541202 0.00012
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_015192.4(PLCB1):c.*785A>T rs886056972 0.00010
NM_015192.4(PLCB1):c.2588G>C (p.Gly863Ala) rs148288081 0.00010
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) rs369897512 0.00010
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) rs373576665 0.00010
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) rs750028854 0.00009
NM_007254.4(PNKP):c.109C>T (p.Pro37Ser) rs536541839 0.00009
NM_015192.4(PLCB1):c.*1682G>A rs1035139433 0.00009
NM_015192.4(PLCB1):c.*632A>G rs886056970 0.00009
NM_016373.4(WWOX):c.19G>A (p.Ala7Thr) rs371392600 0.00009
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln) rs199625891 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_016373.4(WWOX):c.482C>T (p.Ala161Val) rs369055872 0.00009
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile) rs201662175 0.00009
NM_139058.3(ARX):c.821T>C (p.Val274Ala) rs375289776 0.00009
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106 0.00008
NM_015192.4(PLCB1):c.*381G>A rs765987244 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015192.4(PLCB1):c.3590C>T (p.Thr1197Ile) rs190019296 0.00008
NM_015192.4(PLCB1):c.3606G>C (p.Glu1202Asp) rs200558916 0.00008
NM_016373.4(WWOX):c.635C>T (p.Ala212Val) rs202006159 0.00008
NM_152309.3(PIK3AP1):c.1339A>G (p.Met447Val) rs199952187 0.00008
NM_173354.5(SIK1):c.1888G>A (p.Ala630Thr) rs202116743 0.00008
NM_001040142.2(SCN2A):c.*1000G>T rs886055003 0.00007
NM_001040142.2(SCN2A):c.5836_5838del (p.Lys1946del) rs770838929 0.00007
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866 0.00007
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00007
NM_015192.4(PLCB1):c.232G>A (p.Ala78Thr) rs761393253 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_015192.4(PLCB1):c.738G>A (p.Met246Ile) rs375123870 0.00007
NM_016373.4(WWOX):c.443G>C (p.Gly148Ala) rs372660669 0.00007
NM_016373.4(WWOX):c.981G>A (p.Met327Ile) rs758307666 0.00007
NM_152309.3(PIK3AP1):c.112C>T (p.Arg38Cys) rs369732062 0.00007
NM_152309.3(PIK3AP1):c.2242-3T>C rs374054197 0.00007
NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser) rs544711047 0.00007
NM_173354.5(SIK1):c.88G>C (p.Glu30Gln) rs200616322 0.00007
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482 0.00006
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln) rs149367932 0.00006
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr) rs145054594 0.00006
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447 0.00006
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met) rs537705878 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674 0.00006
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749 0.00006
NM_007254.4(PNKP):c.1443C>G (p.Gly481=) rs376213146 0.00006
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883 0.00006
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136 0.00006
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu) rs11555414 0.00006
NM_015192.4(PLCB1):c.*880G>T rs886056973 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015192.4(PLCB1):c.2171A>G (p.Asn724Ser) rs762968564 0.00006
NM_015192.4(PLCB1):c.3423+6C>T rs779690813 0.00006
NM_015192.4(PLCB1):c.3533A>G (p.Asn1178Ser) rs200309017 0.00006
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr) rs199585408 0.00006
NM_016373.4(WWOX):c.167C>T (p.Ala56Val) rs530912550 0.00006
NM_016373.4(WWOX):c.568G>A (p.Val190Met) rs769400934 0.00006
NM_016373.4(WWOX):c.958G>A (p.Ala320Thr) rs368670215 0.00006
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) rs587783194 0.00006
NM_152309.3(PIK3AP1):c.113G>T (p.Arg38Leu) rs770855063 0.00006
NM_152309.3(PIK3AP1):c.1460A>C (p.Lys487Thr) rs772197733 0.00006
NM_152309.3(PIK3AP1):c.1514A>G (p.His505Arg) rs367935657 0.00006
NM_152309.3(PIK3AP1):c.2065G>A (p.Val689Met) rs371865710 0.00006
NM_152309.3(PIK3AP1):c.730G>A (p.Val244Ile) rs761647957 0.00006
NM_152309.3(PIK3AP1):c.775G>A (p.Val259Ile) rs374586750 0.00006
NM_173354.5(SIK1):c.1260G>A (p.Pro420=) rs776487308 0.00006
NM_173354.5(SIK1):c.1915G>A (p.Gly639Ser) rs780476959 0.00006
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) rs34614061 0.00006
NM_000834.5(GRIN2B):c.3343C>G (p.Arg1115Gly) rs370908319 0.00005
NM_001040142.2(SCN2A):c.*1622T>C rs554984144 0.00005
NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys) rs367833365 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514 0.00005
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu) rs779920318 0.00005
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755 0.00005
NM_006279.5(ST3GAL3):c.502G>A (p.Val168Ile) rs758155830 0.00005
NM_007254.4(PNKP):c.1163C>T (p.Ser388Leu) rs146311500 0.00005
NM_007254.4(PNKP):c.355C>A (p.Pro119Thr) rs376650849 0.00005
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu) rs755468325 0.00005
NM_015192.4(PLCB1):c.*1145A>C rs535936703 0.00005
NM_015192.4(PLCB1):c.*126A>G rs1049772195 0.00005
NM_015192.4(PLCB1):c.*1930G>T rs763981676 0.00005
NM_015192.4(PLCB1):c.3111+6C>T rs971351506 0.00005
NM_016373.4(WWOX):c.445G>A (p.Ala149Thr) rs200820063 0.00005
NM_016373.4(WWOX):c.508G>A (p.Glu170Lys) rs758121265 0.00005
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn) rs763950769 0.00005
NM_139058.3(ARX):c.629G>C (p.Gly210Ala) rs752323898 0.00005
NM_152309.3(PIK3AP1):c.2273G>A (p.Arg758His) rs765634361 0.00005
NM_152309.3(PIK3AP1):c.664A>T (p.Met222Leu) rs774215325 0.00005
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp) rs748371566 0.00005
NM_173354.5(SIK1):c.1849G>A (p.Ala617Thr) rs779097101 0.00005
NM_173354.5(SIK1):c.1870G>A (p.Gly624Ser) rs544350928 0.00005
NM_173354.5(SIK1):c.2201T>C (p.Ile734Thr) rs758936540 0.00005
NM_173354.5(SIK1):c.424G>A (p.Asp142Asn) rs45491503 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000834.5(GRIN2B):c.3812C>T (p.Ala1271Val) rs372379846 0.00004
NM_001040142.2(SCN2A):c.*1264A>G rs951534441 0.00004
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00004
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu) rs143734912 0.00004
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.2016+3G>A rs752881264 0.00004
NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr) rs753977894 0.00004
NM_001040142.2(SCN2A):c.5672T>A (p.Val1891Asp) rs758908934 0.00004
NM_001040142.2(SCN2A):c.5705G>A (p.Arg1902His) rs747710683 0.00004
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597 0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) rs368678094 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590 0.00004
NM_001323289.2(CDKL5):c.2567A>T (p.Asp856Val) rs770426025 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_007254.4(PNKP):c.1202C>G (p.Ser401Cys) rs899556646 0.00004
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137 0.00004
NM_007254.4(PNKP):c.212C>T (p.Pro71Leu) rs772033320 0.00004
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile) rs780440711 0.00004
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala) rs201748578 0.00004
NM_015192.4(PLCB1):c.*1965A>G rs905439149 0.00004
NM_015192.4(PLCB1):c.*2051C>T rs1024191399 0.00004
NM_015192.4(PLCB1):c.*964G>T rs886056974 0.00004
NM_015192.4(PLCB1):c.1432G>A (p.Gly478Ser) rs749354249 0.00004
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.2279G>A (p.Arg760His) rs377440334 0.00004
NM_015192.4(PLCB1):c.2318A>G (p.Tyr773Cys) rs948237591 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.2853G>C (p.Lys951Asn) rs202226833 0.00004
NM_015192.4(PLCB1):c.2930A>G (p.Lys977Arg) rs757601519 0.00004
NM_015192.4(PLCB1):c.2947C>T (p.Pro983Ser) rs371547145 0.00004
NM_015192.4(PLCB1):c.3112C>T (p.Leu1038Phe) rs762562905 0.00004
NM_015192.4(PLCB1):c.346C>T (p.His116Tyr) rs1018596939 0.00004
NM_015192.4(PLCB1):c.735G>A (p.Met245Ile) rs780585750 0.00004
NM_015192.4(PLCB1):c.905A>G (p.Glu302Gly) rs774418267 0.00004
NM_015192.4(PLCB1):c.919G>A (p.Val307Ile) rs373633394 0.00004
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln) rs373148311 0.00004
NM_016373.4(WWOX):c.164T>C (p.Val55Ala) rs775944673 0.00004
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu) rs201008667 0.00004
NM_016373.4(WWOX):c.322G>A (p.Asp108Asn) rs747575799 0.00004
NM_016373.4(WWOX):c.605T>G (p.Val202Gly) rs112636835 0.00004
NM_016373.4(WWOX):c.673C>G (p.Leu225Val) rs376040091 0.00004
NM_016373.4(WWOX):c.721C>G (p.Gln241Glu) rs540386692 0.00004
NM_016373.4(WWOX):c.760C>T (p.Arg254Cys) rs369715848 0.00004
NM_016373.4(WWOX):c.925C>T (p.Arg309Cys) rs761545702 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00004
NM_139058.3(ARX):c.1462A>G (p.Met488Val) rs767404024 0.00004
NM_152309.3(PIK3AP1):c.31G>A (p.Asp11Asn) rs138344015 0.00004
NM_173354.5(SIK1):c.1289G>A (p.Arg430Gln) rs143953116 0.00004
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) rs765573579 0.00004
NM_173354.5(SIK1):c.1927G>A (p.Gly643Ser) rs201009426 0.00004
NM_000834.5(GRIN2B):c.1125G>A (p.Arg375=) rs200126922 0.00003
NM_000834.5(GRIN2B):c.1316G>A (p.Arg439His) rs752720799 0.00003
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_001040142.2(SCN2A):c.*1003G>C rs886055004 0.00003
NM_001040142.2(SCN2A):c.*1433A>G rs886055005 0.00003
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg) rs796053201 0.00003
NM_001040142.2(SCN2A):c.1858C>T (p.Arg620Trp) rs762680220 0.00003
NM_001040142.2(SCN2A):c.2388+6C>A rs747774131 0.00003
NM_001040142.2(SCN2A):c.3065G>A (p.Arg1022His) rs376774884 0.00003
NM_001040142.2(SCN2A):c.3196A>C (p.Asn1066His) rs748876017 0.00003
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys) rs779838514 0.00003
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met) rs372062686 0.00003
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr) rs776648566 0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841 0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 0.00003
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val) rs1192131861 0.00003
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259 0.00003
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00003
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu) rs1159971280 0.00003
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921 0.00003
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791 0.00003
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) rs758697406 0.00003
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys) rs769751880 0.00003
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237 0.00003
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) rs751738454 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) rs886051845 0.00003
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val) rs375873110 0.00003
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267 0.00003
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met) rs370233833 0.00003
NM_001323289.2(CDKL5):c.1027A>G (p.Ser343Gly) rs371313385 0.00003
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys) rs530663093 0.00003
NM_007254.4(PNKP):c.1285G>A (p.Ala429Thr) rs148386689 0.00003
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167 0.00003
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu) rs1165689250 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_007254.4(PNKP):c.20C>T (p.Pro7Leu) rs776442624 0.00003
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln) rs751820948 0.00003
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser) rs147553148 0.00003
NM_007254.4(PNKP):c.961T>C (p.Phe321Leu) rs1210892846 0.00003
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009 0.00003
NM_015192.4(PLCB1):c.1317G>C (p.Glu439Asp) rs746127346 0.00003
NM_015192.4(PLCB1):c.1581+4G>A rs761829659 0.00003
NM_015192.4(PLCB1):c.2559T>G (p.Ser853Arg) rs753642857 0.00003
NM_015192.4(PLCB1):c.2908G>A (p.Ala970Thr) rs763567304 0.00003
NM_015192.4(PLCB1):c.2930+15T>C rs749168952 0.00003
NM_015192.4(PLCB1):c.301C>T (p.Arg101Cys) rs868772684 0.00003
NM_015192.4(PLCB1):c.3373G>A (p.Val1125Ile) rs773333771 0.00003
NM_015192.4(PLCB1):c.499G>A (p.Gly167Arg) rs749130736 0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His) rs775904184 0.00003
NM_015192.4(PLCB1):c.913G>A (p.Gly305Arg) rs370525961 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp) rs750042007 0.00003
NM_016373.4(WWOX):c.251C>G (p.Thr84Ser) rs757145186 0.00003
NM_016373.4(WWOX):c.563G>A (p.Arg188His) rs771163284 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00003
NM_016373.4(WWOX):c.977T>C (p.Met326Thr) rs371996496 0.00003
NM_139058.3(ARX):c.1463T>C (p.Met488Thr) rs759074085 0.00003
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser) rs766065019 0.00003
NM_139058.3(ARX):c.455C>G (p.Ala152Gly) rs1184388194 0.00003
NM_139058.3(ARX):c.664G>A (p.Gly222Ser) rs1183516776 0.00003
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676 0.00003
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_152309.3(PIK3AP1):c.13+3G>A rs996067839 0.00003
NM_152309.3(PIK3AP1):c.227T>G (p.Val76Gly) rs770097737 0.00003
NM_152309.3(PIK3AP1):c.2387C>G (p.Pro796Arg) rs746172807 0.00003
NM_152309.3(PIK3AP1):c.554G>A (p.Arg185His) rs1364487885 0.00003
NM_152309.3(PIK3AP1):c.620C>T (p.Ala207Val) rs201029174 0.00003
NM_173354.5(SIK1):c.1094G>A (p.Arg365Gln) rs780535115 0.00003
NM_173354.5(SIK1):c.1403C>T (p.Thr468Met) rs1012778505 0.00003
NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr) rs777106028 0.00003
NM_173354.5(SIK1):c.1932C>G (p.Ser644Arg) rs761924245 0.00003
NM_173354.5(SIK1):c.2033A>C (p.Gln678Pro) rs763160252 0.00003
NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu) rs988303758 0.00003
NM_173354.5(SIK1):c.2149G>A (p.Gly717Ser) rs766433765 0.00003
NM_173354.5(SIK1):c.2225C>T (p.Pro742Leu) rs750558686 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr) rs755238635 0.00003
NM_173354.5(SIK1):c.365G>A (p.Ser122Asn) rs745541081 0.00003
NM_173354.5(SIK1):c.50G>A (p.Gly17Asp) rs761039038 0.00003
NM_173354.5(SIK1):c.862G>T (p.Ala288Ser) rs376891838 0.00003
NM_173354.5(SIK1):c.955C>T (p.Arg319Trp) rs759268634 0.00003
NC_000023.11:g.18653501C>T rs745370971 0.00002
NM_000834.5(GRIN2B):c.3647G>A (p.Arg1216His) rs757636470 0.00002
NM_000834.5(GRIN2B):c.3690G>A (p.Thr1230=) rs200609066 0.00002
NM_000834.5(GRIN2B):c.3884G>A (p.Arg1295Gln) rs1284336148 0.00002
NM_000834.5(GRIN2B):c.3946G>A (p.Ala1316Thr) rs199803550 0.00002
NM_000834.5(GRIN2B):c.4015A>C (p.Met1339Leu) rs200604023 0.00002
NM_000834.5(GRIN2B):c.4017G>A (p.Met1339Ile) rs752473485 0.00002
NM_000834.5(GRIN2B):c.4241C>T (p.Ala1414Val) rs751107971 0.00002
NM_000834.5(GRIN2B):c.75A>C (p.Arg25Ser) rs948741015 0.00002
NM_001040142.2(SCN2A):c.*690G>A rs1322180654 0.00002
NM_001040142.2(SCN2A):c.-51-1729T>C rs886054998 0.00002
NM_001040142.2(SCN2A):c.1436G>T (p.Gly479Val) rs763114190 0.00002
NM_001040142.2(SCN2A):c.1490G>A (p.Ser497Asn) rs778749930 0.00002
NM_001040142.2(SCN2A):c.2219A>G (p.Asp740Gly) rs747869260 0.00002
NM_001040142.2(SCN2A):c.3102A>C (p.Lys1034Asn) rs772956132 0.00002
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met) rs765278777 0.00002
NM_001040142.2(SCN2A):c.3260T>C (p.Val1087Ala) rs1457881200 0.00002
NM_001040142.2(SCN2A):c.3521-15T>C rs886055000 0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421 0.00002
NM_001040142.2(SCN2A):c.3850-3T>C rs1445707939 0.00002
NM_001040142.2(SCN2A):c.4135G>A (p.Val1379Met) rs779140322 0.00002
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001040142.2(SCN2A):c.6004G>A (p.Glu2002Lys) rs780027748 0.00002
NM_001040142.2(SCN2A):c.901G>A (p.Asp301Asn) rs1432098565 0.00002
NM_001040142.2(SCN2A):c.923A>G (p.Asn308Ser) rs753821498 0.00002
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln) rs1176851202 0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00002
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val) rs767399516 0.00002
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652 0.00002
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys) rs1336849921 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys) rs375571181 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) rs757236821 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) rs371245371 0.00002
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146 0.00002
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321 0.00002
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) rs200263150 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) rs750266156 0.00002
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251 0.00002
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 0.00002
NM_001323289.2(CDKL5):c.1396C>T (p.Arg466Trp) rs1310879766 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.1673G>A (p.Arg558His) rs763991639 0.00002
NM_001323289.2(CDKL5):c.238C>T (p.Arg80Cys) rs1466254546 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys) rs780609419 0.00002
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558 0.00002
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177 0.00002
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp) rs1475195158 0.00002
NM_001323289.2(CDKL5):c.844C>G (p.Pro282Ala) rs1926077779 0.00002
NM_001371246.1(SCN2A):c.687T>C (p.Ser229=) rs746904068 0.00002
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser) rs760583725 0.00002
NM_007254.4(PNKP):c.1121C>T (p.Pro374Leu) rs1391995905 0.00002
NM_007254.4(PNKP):c.1188+12C>T rs780736753 0.00002
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060 0.00002
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val) rs769707108 0.00002
NM_007254.4(PNKP):c.1370C>T (p.Ala457Val) rs776349198 0.00002
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln) rs745651405 0.00002
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949 0.00002
NM_007254.4(PNKP):c.314G>A (p.Arg105His) rs535302504 0.00002
NM_007254.4(PNKP):c.344A>G (p.Gln115Arg) rs200055661 0.00002
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_007254.4(PNKP):c.816G>A (p.Gln272=) rs534099292 0.00002
NM_007254.4(PNKP):c.936+6G>A rs751664776 0.00002
NM_015080.4(NRXN2):c.3176G>A (p.Arg1059Gln) rs777033569 0.00002
NM_015192.4(PLCB1):c.*2019G>A rs1009626644 0.00002
NM_015192.4(PLCB1):c.*2717G>A rs763021921 0.00002
NM_015192.4(PLCB1):c.-1G>C rs764523154 0.00002
NM_015192.4(PLCB1):c.1415A>C (p.Lys472Thr) rs368448785 0.00002
NM_015192.4(PLCB1):c.1551T>G (p.Asp517Glu) rs150189968 0.00002
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 0.00002
NM_015192.4(PLCB1):c.2829C>A (p.Asp943Glu) rs745349550 0.00002
NM_015192.4(PLCB1):c.2983G>A (p.Ala995Thr) rs780463144 0.00002
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_015192.4(PLCB1):c.3136G>A (p.Ala1046Thr) rs778097231 0.00002
NM_015192.4(PLCB1):c.3326A>G (p.Tyr1109Cys) rs747642151 0.00002
NM_015192.4(PLCB1):c.3475C>G (p.Leu1159Val) rs1987996323 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.3493G>A (p.Val1165Met) rs772786871 0.00002
NM_015192.4(PLCB1):c.3572G>C (p.Gly1191Ala) rs772366922 0.00002
NM_015192.4(PLCB1):c.464C>T (p.Ala155Val) rs148738915 0.00002
NM_015192.4(PLCB1):c.889C>T (p.Arg297Cys) rs149661663 0.00002
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys) rs770155582 0.00002
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr) rs767667847 0.00002
NM_016373.4(WWOX):c.106A>G (p.Asn36Asp) rs1385155926 0.00002
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu) rs1474278988 0.00002
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu) rs1484856529 0.00002
NM_016373.4(WWOX):c.282G>A (p.Val94=) rs771301969 0.00002
NM_016373.4(WWOX):c.410-3T>C rs201178351 0.00002
NM_016373.4(WWOX):c.419C>A (p.Thr140Asn) rs750464034 0.00002
NM_016373.4(WWOX):c.439C>T (p.His147Tyr) rs746480783 0.00002
NM_016373.4(WWOX):c.440A>G (p.His147Arg) rs188859796 0.00002
NM_016373.4(WWOX):c.481G>A (p.Ala161Thr) rs779724017 0.00002
NM_016373.4(WWOX):c.658C>G (p.Leu220Val) rs770774574 0.00002
NM_016373.4(WWOX):c.697C>A (p.His233Asn) rs757863128 0.00002
NM_016373.4(WWOX):c.748T>A (p.Ser250Thr) rs941156863 0.00002
NM_016373.4(WWOX):c.791+4G>T rs766952918 0.00002
NM_016373.4(WWOX):c.791+5G>C rs756074406 0.00002
NM_016373.4(WWOX):c.919C>G (p.Leu307Val) rs200320711 0.00002
NM_016373.4(WWOX):c.962T>C (p.Val321Ala) rs774783221 0.00002
NM_016373.4(WWOX):c.966T>A (p.His322Gln) rs750797952 0.00002
NM_016373.4(WWOX):c.997C>T (p.Arg333Cys) rs369281766 0.00002
NM_021927.3(GUF1):c.809T>C (p.Ile270Thr) rs754081165 0.00002
NM_139058.3(ARX):c.1471C>A (p.Leu491Met) rs752807804 0.00002
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093 0.00002
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr) rs888222904 0.00002
NM_139058.3(ARX):c.681G>C (p.Glu227Asp) rs887974166 0.00002
NM_139058.3(ARX):c.706G>C (p.Asp236His) rs1291778310 0.00002
NM_139058.3(ARX):c.794G>A (p.Arg265His) rs1223069540 0.00002
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) rs878853107 0.00002
NM_152309.3(PIK3AP1):c.1499A>G (p.Glu500Gly) rs185079778 0.00002
NM_152309.3(PIK3AP1):c.1664T>C (p.Phe555Ser) rs781326320 0.00002
NM_152309.3(PIK3AP1):c.1739C>T (p.Pro580Leu) rs778955496 0.00002
NM_152309.3(PIK3AP1):c.1941+5C>A rs745868556 0.00002
NM_152309.3(PIK3AP1):c.2197C>T (p.Arg733Trp) rs753785564 0.00002
NM_152309.3(PIK3AP1):c.2366C>T (p.Pro789Leu) rs1261866966 0.00002
NM_152309.3(PIK3AP1):c.257C>T (p.Pro86Leu) rs374337467 0.00002
NM_152309.3(PIK3AP1):c.280C>T (p.Pro94Ser) rs1469971703 0.00002
NM_152309.3(PIK3AP1):c.645G>A (p.Glu215=) rs752098964 0.00002
NM_152309.3(PIK3AP1):c.800A>G (p.Glu267Gly) rs200224557 0.00002
NM_173354.5(SIK1):c.1046G>A (p.Arg349Gln) rs753524703 0.00002
NM_173354.5(SIK1):c.1168T>C (p.Cys390Arg) rs756613890 0.00002
NM_173354.5(SIK1):c.1210G>A (p.Glu404Lys) rs150822645 0.00002
NM_173354.5(SIK1):c.1235C>T (p.Ser412Leu) rs368079556 0.00002
NM_173354.5(SIK1):c.1279G>A (p.Gly427Arg) rs565748824 0.00002
NM_173354.5(SIK1):c.1295G>A (p.Arg432Gln) rs778947480 0.00002
NM_173354.5(SIK1):c.1312A>G (p.Ser438Gly) rs757099881 0.00002
NM_173354.5(SIK1):c.1634C>T (p.Ser545Leu) rs756332675 0.00002
NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu) rs768025261 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_173354.5(SIK1):c.2114G>A (p.Gly705Glu) rs1283951144 0.00002
NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys) rs768404256 0.00002
NM_173354.5(SIK1):c.380G>A (p.Arg127Gln) rs111703795 0.00002
NM_173354.5(SIK1):c.436G>A (p.Val146Ile) rs762885522 0.00002
NC_000023.11:g.18646009G>A rs369009993 0.00001
NC_000023.11:g.18650554G>A rs760568446 0.00001
NC_000023.11:g.18653480G>A rs1018524335 0.00001
NM_000330.4(RS1):c.184+3170G>A rs764540699 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000834.5(GRIN2B):c.1287C>T (p.Cys429=) rs747172511 0.00001
NM_000834.5(GRIN2B):c.136G>A (p.Asp46Asn) rs370809599 0.00001
NM_000834.5(GRIN2B):c.1440G>A (p.Leu480=) rs1356222326 0.00001
NM_000834.5(GRIN2B):c.14C>T (p.Ala5Val) rs367543147 0.00001
NM_000834.5(GRIN2B):c.1559C>T (p.Ser520Leu) rs1211941493 0.00001
NM_000834.5(GRIN2B):c.1654+10G>A rs201242368 0.00001
NM_000834.5(GRIN2B):c.185T>C (p.Leu62Pro) rs769987851 0.00001
NM_000834.5(GRIN2B):c.2011-8C>G rs774971411 0.00001
NM_000834.5(GRIN2B):c.241A>G (p.Ile81Val) rs200262227 0.00001
NM_000834.5(GRIN2B):c.2540G>A (p.Arg847Gln) rs1591608943 0.00001
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_000834.5(GRIN2B):c.2740G>A (p.Val914Met) rs1039043750 0.00001
NM_000834.5(GRIN2B):c.274C>T (p.Arg92Trp) rs1436757161 0.00001
NM_000834.5(GRIN2B):c.2759G>A (p.Ser920Asn) rs781442804 0.00001
NM_000834.5(GRIN2B):c.2855C>T (p.Pro952Leu) rs747714077 0.00001
NM_000834.5(GRIN2B):c.286G>C (p.Gly96Arg) rs1865819395 0.00001
NM_000834.5(GRIN2B):c.2936A>T (p.Asn979Ile) rs796052574 0.00001
NM_000834.5(GRIN2B):c.3004G>C (p.Gly1002Arg) rs761281000 0.00001
NM_000834.5(GRIN2B):c.3056G>T (p.Ser1019Ile) rs200265732 0.00001
NM_000834.5(GRIN2B):c.3099C>G (p.Ser1033Arg) rs796052575 0.00001
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu) rs754878801 0.00001
NM_000834.5(GRIN2B):c.3118G>A (p.Gly1040Ser) rs202222002 0.00001
NM_000834.5(GRIN2B):c.3169C>T (p.Arg1057Cys) rs761084398 0.00001
NM_000834.5(GRIN2B):c.3170G>A (p.Arg1057His) rs773737239 0.00001
NM_000834.5(GRIN2B):c.3202G>A (p.Val1068Ile) rs749434579 0.00001
NM_000834.5(GRIN2B):c.3344G>T (p.Arg1115Leu) rs199514711 0.00001
NM_000834.5(GRIN2B):c.3365A>C (p.Tyr1122Ser) rs749285212 0.00001
NM_000834.5(GRIN2B):c.3475A>G (p.Ser1159Gly) rs762050994 0.00001
NM_000834.5(GRIN2B):c.3562G>A (p.Gly1188Ser) rs367543149 0.00001
NM_000834.5(GRIN2B):c.3626G>A (p.Arg1209Gln) rs748005909 0.00001
NM_000834.5(GRIN2B):c.3652T>A (p.Cys1218Ser) rs1948583113 0.00001
NM_000834.5(GRIN2B):c.3683C>T (p.Thr1228Met) rs75670883 0.00001
NM_000834.5(GRIN2B):c.3805C>T (p.Pro1269Ser) rs1458120181 0.00001
NM_000834.5(GRIN2B):c.3835A>T (p.Thr1279Ser) rs372152403 0.00001
NM_000834.5(GRIN2B):c.3895C>T (p.Arg1299Cys) rs45540034 0.00001
NM_000834.5(GRIN2B):c.3964G>C (p.Val1322Leu) rs200255226 0.00001
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483 0.00001
NM_000834.5(GRIN2B):c.4108G>A (p.Gly1370Arg) rs754738111 0.00001
NM_000834.5(GRIN2B):c.4112A>G (p.Tyr1371Cys) rs755797497 0.00001
NM_000834.5(GRIN2B):c.4142G>A (p.Arg1381Gln) rs761443441 0.00001
NM_000834.5(GRIN2B):c.4244C>T (p.Ser1415Leu) rs201463390 0.00001
NM_000834.5(GRIN2B):c.427T>C (p.Phe143Leu) rs756875824 0.00001
NM_000834.5(GRIN2B):c.4330A>G (p.Lys1444Glu) rs768707460 0.00001
NM_000834.5(GRIN2B):c.4429C>G (p.Leu1477Val) rs1388986519 0.00001
NM_000834.5(GRIN2B):c.568A>G (p.Ile190Val) rs1863531293 0.00001
NM_000834.5(GRIN2B):c.823A>G (p.Thr275Ala) rs1291904458 0.00001
NM_000834.5(GRIN2B):c.991C>A (p.Gln331Lys) rs1290922060 0.00001
NM_001040142.2(SCN2A):c.*1778A>C rs886055006 0.00001
NM_001040142.2(SCN2A):c.*535A>G rs770662807 0.00001
NM_001040142.2(SCN2A):c.-51-1758A>C rs867379149 0.00001
NM_001040142.2(SCN2A):c.-51-1914C>T rs886054989 0.00001
NM_001040142.2(SCN2A):c.-51-1925G>A rs749326085 0.00001
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987 0.00001
NM_001040142.2(SCN2A):c.115C>A (p.Gln39Lys) rs757194863 0.00001
NM_001040142.2(SCN2A):c.1355A>G (p.Gln452Arg) rs368212942 0.00001
NM_001040142.2(SCN2A):c.1382A>G (p.Gln461Arg) rs780709903 0.00001
NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg) rs369488860 0.00001
NM_001040142.2(SCN2A):c.145G>A (p.Gly49Ser) rs773605666 0.00001
NM_001040142.2(SCN2A):c.1484C>A (p.Ser495Tyr) rs140661535 0.00001
NM_001040142.2(SCN2A):c.1558A>T (p.Asn520Tyr) rs746957483 0.00001
NM_001040142.2(SCN2A):c.1598G>A (p.Arg533Lys) rs1057520163 0.00001
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys) rs775923587 0.00001
NM_001040142.2(SCN2A):c.1661C>T (p.Ser554Phe) rs764865753 0.00001
NM_001040142.2(SCN2A):c.1672-3T>C rs769105267 0.00001
NM_001040142.2(SCN2A):c.1711C>T (p.Arg571Cys) rs750049844 0.00001
NM_001040142.2(SCN2A):c.1724C>T (p.Ala575Val) rs986167267 0.00001
NM_001040142.2(SCN2A):c.1747C>G (p.Arg583Gly) rs1553571901 0.00001
NM_001040142.2(SCN2A):c.1748G>A (p.Arg583Gln) rs1158928024 0.00001
NM_001040142.2(SCN2A):c.1755G>C (p.Lys585Asn) rs370685828 0.00001
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met) rs769069833 0.00001
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996 0.00001
NM_001040142.2(SCN2A):c.1945G>A (p.Asp649Asn) rs1698173114 0.00001
NM_001040142.2(SCN2A):c.1969G>A (p.Val657Ile) rs770573856 0.00001
NM_001040142.2(SCN2A):c.2016+5G>A rs756399627 0.00001
NM_001040142.2(SCN2A):c.2021C>A (p.Thr674Lys) rs1698384021 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.2143A>G (p.Met715Val) rs1490648646 0.00001
NM_001040142.2(SCN2A):c.2149+3A>C rs1474808070 0.00001
NM_001040142.2(SCN2A):c.2204T>A (p.Met735Lys) rs924845392 0.00001
NM_001040142.2(SCN2A):c.2258A>G (p.Asn753Ser) rs772159401 0.00001
NM_001040142.2(SCN2A):c.2278T>A (p.Phe760Ile) rs775759603 0.00001
NM_001040142.2(SCN2A):c.2388+11C>G rs866295388 0.00001
NM_001040142.2(SCN2A):c.23C>T (p.Pro8Leu) rs747139785 0.00001
NM_001040142.2(SCN2A):c.2747A>G (p.Asn916Ser) rs763684457 0.00001
NM_001040142.2(SCN2A):c.2759T>A (p.Leu920His) rs761599392 0.00001
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=) rs202006528 0.00001
NM_001040142.2(SCN2A):c.2919+4T>C rs182428124 0.00001
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) rs769267899 0.00001
NM_001040142.2(SCN2A):c.3107T>C (p.Leu1036Ser) rs774256116 0.00001
NM_001040142.2(SCN2A):c.3130G>T (p.Asp1044Tyr) rs1197983141 0.00001
NM_001040142.2(SCN2A):c.3157A>G (p.Ile1053Val) rs1054419020 0.00001
NM_001040142.2(SCN2A):c.3176T>C (p.Ile1059Thr) rs755305829 0.00001
NM_001040142.2(SCN2A):c.3177A>G (p.Ile1059Met) rs960821024 0.00001
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683 0.00001
NM_001040142.2(SCN2A):c.3356C>T (p.Thr1119Ile) rs756738916 0.00001
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala) rs1160491617 0.00001
NM_001040142.2(SCN2A):c.3434C>T (p.Thr1145Met) rs796053128 0.00001
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.347A>G (p.Asn116Ser) rs1173773190 0.00001
NM_001040142.2(SCN2A):c.3586A>G (p.Asn1196Asp) rs796053199 0.00001
NM_001040142.2(SCN2A):c.3623A>G (p.Asn1208Ser) rs781032326 0.00001
NM_001040142.2(SCN2A):c.3638T>G (p.Phe1213Cys) rs1700783513 0.00001
NM_001040142.2(SCN2A):c.3670G>T (p.Ala1224Ser) rs780330020 0.00001
NM_001040142.2(SCN2A):c.3689T>C (p.Ile1230Thr) rs777751518 0.00001
NM_001040142.2(SCN2A):c.3706A>G (p.Lys1236Glu) rs1229209018 0.00001
NM_001040142.2(SCN2A):c.3721A>G (p.Met1241Val) rs1334797843 0.00001
NM_001040142.2(SCN2A):c.3803T>A (p.Val1268Glu) rs774849906 0.00001
NM_001040142.2(SCN2A):c.386+3535C>A rs891087983 0.00001
NM_001040142.2(SCN2A):c.3971G>A (p.Arg1324Lys) rs761654525 0.00001
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905 0.00001
NM_001040142.2(SCN2A):c.4414A>G (p.Ile1472Val) rs368657915 0.00001
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr) rs199641159 0.00001
NM_001040142.2(SCN2A):c.5007G>A (p.Leu1669=) rs1423260538 0.00001
NM_001040142.2(SCN2A):c.5023G>A (p.Ala1675Thr) rs1469322698 0.00001
NM_001040142.2(SCN2A):c.5026A>G (p.Ile1676Val) rs755159786 0.00001
NM_001040142.2(SCN2A):c.5412G>T (p.Lys1804Asn) rs759697991 0.00001
NM_001040142.2(SCN2A):c.5589G>C (p.Lys1863Asn) rs760733246 0.00001
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val) rs772819993 0.00001
NM_001040142.2(SCN2A):c.5773G>A (p.Val1925Ile) rs145727224 0.00001
NM_001040142.2(SCN2A):c.5788A>G (p.Ser1930Gly) rs886055001 0.00001
NM_001040142.2(SCN2A):c.5791A>G (p.Ile1931Val) rs758820824 0.00001
NM_001040142.2(SCN2A):c.5839G>A (p.Glu1947Lys) rs1464068986 0.00001
NM_001040142.2(SCN2A):c.5999T>C (p.Ile2000Thr) rs1433941543 0.00001
NM_001040142.2(SCN2A):c.599C>G (p.Thr200Ser) rs202234412 0.00001
NM_001040142.2(SCN2A):c.6007A>T (p.Ser2003Cys) rs1389700505 0.00001
NM_001040142.2(SCN2A):c.697+13T>G rs770992144 0.00001
NM_001040142.2(SCN2A):c.697+3G>A rs754960917 0.00001
NM_001040142.2(SCN2A):c.73A>G (p.Ile25Val) rs767145207 0.00001
NM_001040142.2(SCN2A):c.745T>A (p.Ser249Thr) rs1210217208 0.00001
NM_001040142.2(SCN2A):c.864T>G (p.Phe288Leu) rs1008008564 0.00001
NM_001040142.2(SCN2A):c.970+6A>T rs371629371 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315 0.00001
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser) rs773328719 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His) rs146412583 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg) rs899998696 0.00001
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys) rs776279771 0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys) rs587784436 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro) rs781124530 0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632 0.00001
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981 0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys) rs773140619 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val) rs754419719 0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln) rs772382171 0.00001
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr) rs961696023 0.00001
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn) rs777407223 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706 0.00001
NM_001130438.3(SPTAN1):c.6763-7C>T rs587784439 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910 0.00001
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) rs889668249 0.00001
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile) rs777515811 0.00001
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln) rs762442022 0.00001
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581 0.00001
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg) rs528162903 0.00001
NM_001199107.2(TBC1D24):c.1206+6C>T rs974544530 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) rs863224932 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr) rs201911646 0.00001
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile) rs951307443 0.00001
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg) rs772570554 0.00001
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His) rs1596972871 0.00001
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) rs758665573 0.00001
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile) rs1403522004 0.00001
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly) rs761300077 0.00001
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844 0.00001
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) rs1333624924 0.00001
NM_001199107.2(TBC1D24):c.1526-3C>T rs752385354 0.00001
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln) rs780286465 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser) rs779026472 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg) rs1427285339 0.00001
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg) rs866586869 0.00001
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr) rs756581138 0.00001
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630 0.00001
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu) rs543224888 0.00001
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys) rs1343535255 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) rs746543920 0.00001
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met) rs754479878 0.00001
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr) rs770787878 0.00001
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala) rs1162185369 0.00001
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr) rs565087939 0.00001
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) rs1301489148 0.00001
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser) rs1277641753 0.00001
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr) rs757359393 0.00001
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) rs770847294 0.00001
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) rs767035291 0.00001
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) rs763670146 0.00001
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val) rs771442254 0.00001
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) rs1223160118 0.00001
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401 0.00001
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile) rs370614433 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg) rs1004946712 0.00001
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val) rs1417808543 0.00001
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561 0.00001
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932 0.00001
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727 0.00001
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) rs909267678 0.00001
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val) rs775099094 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199107.2(TBC1D24):c.965+13C>T rs531521557 0.00001
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404 0.00001
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150 0.00001
NM_001323289.2(CDKL5):c.1076G>C (p.Gly359Ala) rs1207429249 0.00001
NM_001323289.2(CDKL5):c.1094G>A (p.Ser365Asn) rs1279388510 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001323289.2(CDKL5):c.1230A>C (p.Glu410Asp) rs762247736 0.00001
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766 0.00001
NM_001323289.2(CDKL5):c.1337C>T (p.Ser446Leu) rs1926273872 0.00001
NM_001323289.2(CDKL5):c.1397G>A (p.Arg466Gln) rs748907380 0.00001
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474 0.00001
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly) rs749639424 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400 0.00001
NM_001323289.2(CDKL5):c.1909G>C (p.Ala637Pro) rs1330464637 0.00001
NM_001323289.2(CDKL5):c.2014A>T (p.Thr672Ser) rs1926449880 0.00001
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001323289.2(CDKL5):c.2377G>A (p.Val793Ile) rs754699773 0.00001
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile) rs1449425691 0.00001
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys) rs372825651 0.00001
NM_001323289.2(CDKL5):c.403+5G>A rs1342864362 0.00001
NM_001323289.2(CDKL5):c.473G>A (p.Arg158His) rs757402424 0.00001
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr) rs765304446 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908 0.00001
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547 0.00001
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp) rs1230372504 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter) rs1158418673 0.00001
NM_003159.3(CDKL5):c.2866C>T (p.Arg956Cys) rs1398393336 0.00001
NM_003159.3(CDKL5):c.2890T>C (p.Tyr964His) rs781435432 0.00001
NM_006279.5(ST3GAL3):c.303-9A>G rs762536905 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_007254.4(PNKP):c.1016C>T (p.Pro339Leu) rs1025604697 0.00001
NM_007254.4(PNKP):c.1018G>C (p.Ala340Pro) rs1194802183 0.00001
NM_007254.4(PNKP):c.1046C>T (p.Ser349Leu) rs758045226 0.00001
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg) rs750098786 0.00001
NM_007254.4(PNKP):c.1051C>T (p.Pro351Ser) rs764879888 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1087G>A (p.Ala363Thr) rs1187151464 0.00001
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303 0.00001
NM_007254.4(PNKP):c.1108G>A (p.Ala370Thr) rs945654606 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855 0.00001
NM_007254.4(PNKP):c.1193C>T (p.Thr398Met) rs1010036717 0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312 0.00001
NM_007254.4(PNKP):c.1217T>G (p.Val406Gly) rs141938129 0.00001
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro) rs199652836 0.00001
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150 0.00001
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val) rs1060502500 0.00001
NM_007254.4(PNKP):c.1247G>A (p.Gly416Glu) rs1198936842 0.00001
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098 0.00001
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151 0.00001
NM_007254.4(PNKP):c.1292G>A (p.Arg431His) rs950502049 0.00001
NM_007254.4(PNKP):c.1295C>T (p.Ala432Val) rs1568658987 0.00001
NM_007254.4(PNKP):c.1303G>A (p.Val435Ile) rs1568658756 0.00001
NM_007254.4(PNKP):c.1309T>C (p.Cys437Arg) rs772111430 0.00001
NM_007254.4(PNKP):c.1330C>T (p.Pro444Ser) rs1191025361 0.00001
NM_007254.4(PNKP):c.1331C>T (p.Pro444Leu) rs908736344 0.00001
NM_007254.4(PNKP):c.1373G>A (p.Arg458His) rs1187812495 0.00001
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp) rs778893834 0.00001
NM_007254.4(PNKP):c.1387-3C>G rs1470343514 0.00001
NM_007254.4(PNKP):c.1429A>G (p.Met477Val) rs796052856 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857 0.00001
NM_007254.4(PNKP):c.1465C>T (p.Pro489Ser) rs746916070 0.00001
NM_007254.4(PNKP):c.1477G>A (p.Glu493Lys) rs1488577824 0.00001
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756 0.00001
NM_007254.4(PNKP):c.14A>G (p.Glu5Gly) rs1278449939 0.00001
NM_007254.4(PNKP):c.152-8A>G rs751424212 0.00001
NM_007254.4(PNKP):c.152T>G (p.Val51Gly) rs758700077 0.00001
NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp) rs112217838 0.00001
NM_007254.4(PNKP):c.1538G>A (p.Arg513Gln) rs761491872 0.00001
NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln) rs770823063 0.00001
NM_007254.4(PNKP):c.1561G>A (p.Gly521Ser) rs1289682803 0.00001
NM_007254.4(PNKP):c.184G>A (p.Val62Met) rs1467903741 0.00001
NM_007254.4(PNKP):c.199-7T>A rs904994238 0.00001
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys) rs1016887861 0.00001
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617 0.00001
NM_007254.4(PNKP):c.473C>T (p.Ala158Val) rs372615308 0.00001
NM_007254.4(PNKP):c.482T>C (p.Val161Ala) rs368921337 0.00001
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138 0.00001
NM_007254.4(PNKP):c.499-4C>G rs545573584 0.00001
NM_007254.4(PNKP):c.520G>A (p.Gly174Arg) rs142770020 0.00001
NM_007254.4(PNKP):c.566C>G (p.Pro189Arg) rs570975244 0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 0.00001
NM_007254.4(PNKP):c.602G>A (p.Arg201His) rs150253619 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007254.4(PNKP):c.634A>G (p.Lys212Glu) rs762187891 0.00001
NM_007254.4(PNKP):c.637C>T (p.Leu213=) rs770006231 0.00001
NM_007254.4(PNKP):c.667G>A (p.Gly223Arg) rs764562312 0.00001
NM_007254.4(PNKP):c.688G>A (p.Glu230Lys) rs768745851 0.00001
NM_007254.4(PNKP):c.713C>T (p.Ala238Val) rs746166841 0.00001
NM_007254.4(PNKP):c.718G>A (p.Val240Met) rs1315272571 0.00001
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505 0.00001
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249 0.00001
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768 0.00001
NM_007254.4(PNKP):c.788C>T (p.Thr263Met) rs766704284 0.00001
NM_007254.4(PNKP):c.794T>C (p.Met265Thr) rs756988038 0.00001
NM_007254.4(PNKP):c.816+6T>A rs1313353571 0.00001
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814 0.00001
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965 0.00001
NM_007254.4(PNKP):c.863G>A (p.Gly288Glu) rs1215859117 0.00001
NM_007254.4(PNKP):c.865+6G>A rs776910301 0.00001
NM_007254.4(PNKP):c.868G>A (p.Ala290Thr) rs1485940017 0.00001
NM_007254.4(PNKP):c.872C>G (p.Ala291Gly) rs1259588757 0.00001
NM_007254.4(PNKP):c.925G>A (p.Ala309Thr) rs202022265 0.00001
NM_007254.4(PNKP):c.927C>A (p.Ala309=) rs375879639 0.00001
NM_007254.4(PNKP):c.932G>A (p.Arg311His) rs372435922 0.00001
NM_015192.4(PLCB1):c.*1795A>C rs1280054046 0.00001
NM_015192.4(PLCB1):c.*2485G>C rs1988098726 0.00001
NM_015192.4(PLCB1):c.*372A>G rs886056967 0.00001
NM_015192.4(PLCB1):c.*423G>A rs886056969 0.00001
NM_015192.4(PLCB1):c.1183A>G (p.Ile395Val) rs564559831 0.00001
NM_015192.4(PLCB1):c.1219A>G (p.Ile407Val) rs546265226 0.00001
NM_015192.4(PLCB1):c.121A>G (p.Ile41Val) rs191106606 0.00001
NM_015192.4(PLCB1):c.1250C>T (p.Ser417Phe) rs559611655 0.00001
NM_015192.4(PLCB1):c.1366A>G (p.Met456Val) rs777452326 0.00001
NM_015192.4(PLCB1):c.1460C>T (p.Ser487Phe) rs1376374003 0.00001
NM_015192.4(PLCB1):c.1474G>A (p.Asp492Asn) rs1319451536 0.00001
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn) rs764250569 0.00001
NM_015192.4(PLCB1):c.1582-3C>A rs1055626063 0.00001
NM_015192.4(PLCB1):c.1643A>T (p.Gln548Leu) rs1158119382 0.00001
NM_015192.4(PLCB1):c.1657G>C (p.Glu553Gln) rs1555786069 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1686T>G (p.Asn562Lys) rs745674166 0.00001
NM_015192.4(PLCB1):c.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_015192.4(PLCB1):c.1742A>G (p.Lys581Arg) rs1568574949 0.00001
NM_015192.4(PLCB1):c.1930G>A (p.Gly644Arg) rs781536705 0.00001
NM_015192.4(PLCB1):c.1961T>C (p.Phe654Ser) rs369668806 0.00001
NM_015192.4(PLCB1):c.1962C>T (p.Phe654=) rs747774959 0.00001
NM_015192.4(PLCB1):c.2008G>A (p.Val670Ile) rs772981786 0.00001
NM_015192.4(PLCB1):c.200G>A (p.Ser67Asn) rs775742325 0.00001
NM_015192.4(PLCB1):c.2042A>G (p.Lys681Arg) rs776660417 0.00001
NM_015192.4(PLCB1):c.2134G>T (p.Ala712Ser) rs978185234 0.00001
NM_015192.4(PLCB1):c.2176G>A (p.Val726Ile) rs756337847 0.00001
NM_015192.4(PLCB1):c.2267T>G (p.Phe756Cys) rs1350964561 0.00001
NM_015192.4(PLCB1):c.2286G>T (p.Leu762Phe) rs202079822 0.00001
NM_015192.4(PLCB1):c.2300T>C (p.Ile767Thr) rs745553901 0.00001
NM_015192.4(PLCB1):c.2387A>G (p.Lys796Arg) rs886056964 0.00001
NM_015192.4(PLCB1):c.2405C>T (p.Thr802Ile) rs377053037 0.00001
NM_015192.4(PLCB1):c.2534G>A (p.Gly845Glu) rs749715935 0.00001
NM_015192.4(PLCB1):c.2552C>T (p.Ala851Val) rs1326445069 0.00001
NM_015192.4(PLCB1):c.2600C>T (p.Thr867Ile) rs746314670 0.00001
NM_015192.4(PLCB1):c.260G>A (p.Arg87His) rs750475493 0.00001
NM_015192.4(PLCB1):c.2753C>T (p.Ser918Leu) rs759604666 0.00001
NM_015192.4(PLCB1):c.2785G>C (p.Glu929Gln) rs758788229 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.2893G>A (p.Ala965Thr) rs1253411202 0.00001
NM_015192.4(PLCB1):c.289C>T (p.Arg97Cys) rs778824465 0.00001
NM_015192.4(PLCB1):c.2930+13A>G rs779541589 0.00001
NM_015192.4(PLCB1):c.2930+4A>G rs1467441458 0.00001
NM_015192.4(PLCB1):c.2969T>C (p.Ile990Thr) rs758174226 0.00001
NM_015192.4(PLCB1):c.2992G>C (p.Asp998His) rs1982854661 0.00001
NM_015192.4(PLCB1):c.3074A>G (p.Tyr1025Cys) rs1250342429 0.00001
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00001
NM_015192.4(PLCB1):c.3105T>G (p.Ile1035Met) rs1458003629 0.00001
NM_015192.4(PLCB1):c.3128C>T (p.Thr1043Met) rs754052641 0.00001
NM_015192.4(PLCB1):c.3172A>G (p.Lys1058Glu) rs771219955 0.00001
NM_015192.4(PLCB1):c.319T>C (p.Tyr107His) rs759519379 0.00001
NM_015192.4(PLCB1):c.31T>G (p.Leu11Val) rs759794686 0.00001
NM_015192.4(PLCB1):c.3292A>G (p.Met1098Val) rs1325949995 0.00001
NM_015192.4(PLCB1):c.3294G>T (p.Met1098Ile) rs1983651282 0.00001
NM_015192.4(PLCB1):c.3304T>C (p.Tyr1102His) rs376179077 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 0.00001
NM_015192.4(PLCB1):c.340A>G (p.Ile114Val) rs561450964 0.00001
NM_015192.4(PLCB1):c.3422A>C (p.Lys1141Thr) rs758111758 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.3505A>G (p.Met1169Val) rs766079031 0.00001
NM_015192.4(PLCB1):c.3522T>G (p.Ser1174Arg) rs765066861 0.00001
NM_015192.4(PLCB1):c.3616G>A (p.Asp1206Asn) rs761748712 0.00001
NM_015192.4(PLCB1):c.3626G>A (p.Gly1209Glu) rs779064619 0.00001
NM_015192.4(PLCB1):c.379G>A (p.Ala127Thr) rs779377929 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015192.4(PLCB1):c.696-3T>C rs1439321294 0.00001
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp) rs1222914240 0.00001
NM_015192.4(PLCB1):c.853G>A (p.Ala285Thr) rs776416226 0.00001
NM_016373.4(WWOX):c.1010T>C (p.Val337Ala) rs1170717426 0.00001
NM_016373.4(WWOX):c.1038G>T (p.Arg346Ser) rs781040616 0.00001
NM_016373.4(WWOX):c.1042T>G (p.Phe348Val) rs768904294 0.00001
NM_016373.4(WWOX):c.1054A>G (p.Met352Val) rs575317950 0.00001
NM_016373.4(WWOX):c.107+6G>A rs1276657647 0.00001
NM_016373.4(WWOX):c.108-3C>T rs1163967827 0.00001
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr) rs778218106 0.00001
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly) rs2051755192 0.00001
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser) rs770628801 0.00001
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile) rs775460117 0.00001
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr) rs758746365 0.00001
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser) rs544760115 0.00001
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly) rs1316600993 0.00001
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr) rs375970162 0.00001
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly) rs2051763292 0.00001
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp) rs923748427 0.00001
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter) rs1197462916 0.00001
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro) rs368397011 0.00001
NM_016373.4(WWOX):c.177G>C (p.Leu59Phe) rs771850922 0.00001
NM_016373.4(WWOX):c.184G>A (p.Gly62Arg) rs775696083 0.00001
NM_016373.4(WWOX):c.193C>A (p.Gln65Lys) rs558101281 0.00001
NM_016373.4(WWOX):c.211G>A (p.Gly71Arg) rs767880120 0.00001
NM_016373.4(WWOX):c.286G>A (p.Asp96Asn) rs1461547362 0.00001
NM_016373.4(WWOX):c.287A>G (p.Asp96Gly) rs776969977 0.00001
NM_016373.4(WWOX):c.28G>C (p.Asp10His) rs781180473 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.379G>A (p.Val127Ile) rs1183597678 0.00001
NM_016373.4(WWOX):c.385G>C (p.Val129Leu) rs781732002 0.00001
NM_016373.4(WWOX):c.409+5G>A rs1305123836 0.00001
NM_016373.4(WWOX):c.409+6C>G rs780224603 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_016373.4(WWOX):c.516+3A>G rs200058019 0.00001
NM_016373.4(WWOX):c.518A>G (p.His173Arg) rs770595933 0.00001
NM_016373.4(WWOX):c.51G>T (p.Glu17Asp) rs991773402 0.00001
NM_016373.4(WWOX):c.553G>A (p.Ala185Thr) rs778951309 0.00001
NM_016373.4(WWOX):c.566G>A (p.Ser189Asn) rs776354746 0.00001
NM_016373.4(WWOX):c.586G>A (p.Ala196Thr) rs370367979 0.00001
NM_016373.4(WWOX):c.599A>G (p.Lys200Arg) rs1011606866 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.606-16A>G rs139257288 0.00001
NM_016373.4(WWOX):c.631G>A (p.Ala211Thr) rs370737224 0.00001
NM_016373.4(WWOX):c.647T>C (p.Leu216Pro) rs1385370021 0.00001
NM_016373.4(WWOX):c.656G>A (p.Ser219Asn) rs367599412 0.00001
NM_016373.4(WWOX):c.666A>C (p.Lys222Asn) rs982171635 0.00001
NM_016373.4(WWOX):c.667G>A (p.Asp223Asn) rs768734917 0.00001
NM_016373.4(WWOX):c.670G>A (p.Gly224Ser) rs1349025177 0.00001
NM_016373.4(WWOX):c.691G>C (p.Val231Leu) rs755974419 0.00001
NM_016373.4(WWOX):c.698A>T (p.His233Leu) rs1266205670 0.00001
NM_016373.4(WWOX):c.704G>T (p.Gly235Val) rs1169887175 0.00001
NM_016373.4(WWOX):c.708C>G (p.His236Gln) rs745681407 0.00001
NM_016373.4(WWOX):c.715C>G (p.Leu239Val) rs575080327 0.00001
NM_016373.4(WWOX):c.737T>C (p.Val246Ala) rs200966505 0.00001
NM_016373.4(WWOX):c.763G>A (p.Val255Ile) rs765590833 0.00001
NM_016373.4(WWOX):c.766A>G (p.Ile256Val) rs1023419687 0.00001
NM_016373.4(WWOX):c.812C>T (p.Ser271Phe) rs758222414 0.00001
NM_016373.4(WWOX):c.818G>A (p.Gly273Glu) rs756228469 0.00001
NM_016373.4(WWOX):c.828C>G (p.Asp276Glu) rs372225190 0.00001
NM_016373.4(WWOX):c.82A>C (p.Lys28Gln) rs771726317 0.00001
NM_016373.4(WWOX):c.848C>A (p.Thr283Lys) rs1186552961 0.00001
NM_016373.4(WWOX):c.860A>G (p.Tyr287Cys) rs369890118 0.00001
NM_016373.4(WWOX):c.870G>A (p.Met290Ile) rs199809390 0.00001
NM_016373.4(WWOX):c.880A>G (p.Asn294Asp) rs775585652 0.00001
NM_016373.4(WWOX):c.887C>G (p.Ser296Cys) rs1385421754 0.00001
NM_016373.4(WWOX):c.914A>G (p.Asn305Ser) rs1224888299 0.00001
NM_016373.4(WWOX):c.916G>A (p.Glu306Lys) rs1326472012 0.00001
NM_016373.4(WWOX):c.937C>G (p.Pro313Ala) rs370345936 0.00001
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys) rs781683643 0.00001
NM_016373.4(WWOX):c.947T>C (p.Val316Ala) rs1476364680 0.00001
NM_016373.4(WWOX):c.971G>A (p.Gly324Glu) rs766163069 0.00001
NM_016373.4(WWOX):c.980T>C (p.Met327Thr) rs1567570484 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00001
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala) rs776523818 0.00001
NM_139058.3(ARX):c.186G>C (p.Lys62Asn) rs2048723387 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.430G>T (p.Ala144Ser) rs1253162910 0.00001
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup) rs797045302 0.00001
NM_139058.3(ARX):c.586G>C (p.Gly196Arg) rs1287749285 0.00001
NM_139058.3(ARX):c.592G>A (p.Val198Ile) rs966816905 0.00001
NM_139058.3(ARX):c.610C>A (p.Arg204Ser) rs777162737 0.00001
NM_139058.3(ARX):c.644C>T (p.Pro215Leu) rs964935114 0.00001
NM_139058.3(ARX):c.694G>A (p.Glu232Lys) rs1026478061 0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
NM_145239.3(PRRT2):c.839T>C (p.Met280Thr) rs1419914220 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_152309.3(PIK3AP1):c.1111C>A (p.His371Asn) rs764406248 0.00001
NM_152309.3(PIK3AP1):c.1234G>A (p.Gly412Arg) rs760007926 0.00001
NM_152309.3(PIK3AP1):c.1239G>C (p.Glu413Asp) rs150135770 0.00001
NM_152309.3(PIK3AP1):c.1258G>A (p.Glu420Lys) rs763602032 0.00001
NM_152309.3(PIK3AP1):c.1259A>T (p.Glu420Val) rs1296135119 0.00001
NM_152309.3(PIK3AP1):c.1433G>A (p.Arg478Gln) rs760805333 0.00001
NM_152309.3(PIK3AP1):c.1483G>A (p.Gly495Arg) rs773784554 0.00001
NM_152309.3(PIK3AP1):c.1490C>A (p.Thr497Asn) rs1245379804 0.00001
NM_152309.3(PIK3AP1):c.1517T>A (p.Leu506His) rs1285143382 0.00001
NM_152309.3(PIK3AP1):c.1544C>T (p.Thr515Met) rs544379655 0.00001
NM_152309.3(PIK3AP1):c.1645G>A (p.Asp549Asn) rs778480899 0.00001
NM_152309.3(PIK3AP1):c.1670-3T>C rs567983975 0.00001
NM_152309.3(PIK3AP1):c.1711G>A (p.Val571Ile) rs751645271 0.00001
NM_152309.3(PIK3AP1):c.1712T>C (p.Val571Ala) rs1251757430 0.00001
NM_152309.3(PIK3AP1):c.1805C>T (p.Thr602Met) rs1018719222 0.00001
NM_152309.3(PIK3AP1):c.1817G>A (p.Arg606Gln) rs768643466 0.00001
NM_152309.3(PIK3AP1):c.1931G>A (p.Arg644His) rs771872937 0.00001
NM_152309.3(PIK3AP1):c.1955G>A (p.Arg652Gln) rs762971506 0.00001
NM_152309.3(PIK3AP1):c.1985G>A (p.Arg662Lys) rs747349549 0.00001
NM_152309.3(PIK3AP1):c.202G>A (p.Val68Met) rs952542746 0.00001
NM_152309.3(PIK3AP1):c.2035A>G (p.Ile679Val) rs200270009 0.00001
NM_152309.3(PIK3AP1):c.2051A>G (p.His684Arg) rs1589484825 0.00001
NM_152309.3(PIK3AP1):c.2066T>C (p.Val689Ala) rs1849075736 0.00001
NM_152309.3(PIK3AP1):c.2084A>T (p.Glu695Val) rs1460674779 0.00001
NM_152309.3(PIK3AP1):c.2099A>T (p.Lys700Ile) rs760856517 0.00001
NM_152309.3(PIK3AP1):c.2147C>T (p.Thr716Ile) rs368775964 0.00001
NM_152309.3(PIK3AP1):c.2198G>A (p.Arg733Gln) rs777771892 0.00001
NM_152309.3(PIK3AP1):c.2317C>T (p.Leu773Phe) rs1462949784 0.00001
NM_152309.3(PIK3AP1):c.2354C>T (p.Ser785Leu) rs769596130 0.00001
NM_152309.3(PIK3AP1):c.2369C>T (p.Thr790Ile) rs1334720195 0.00001
NM_152309.3(PIK3AP1):c.2378C>T (p.Thr793Ile) rs140404891 0.00001
NM_152309.3(PIK3AP1):c.256C>T (p.Pro86Ser) rs1461903721 0.00001
NM_152309.3(PIK3AP1):c.313G>T (p.Val105Leu) rs766269268 0.00001
NM_152309.3(PIK3AP1):c.491C>T (p.Ser164Leu) rs1281459160 0.00001
NM_152309.3(PIK3AP1):c.509C>T (p.Pro170Leu) rs752904157 0.00001
NM_152309.3(PIK3AP1):c.526G>A (p.Gly176Arg) rs768087248 0.00001
NM_152309.3(PIK3AP1):c.568G>A (p.Ala190Thr) rs748113882 0.00001
NM_152309.3(PIK3AP1):c.691A>G (p.Thr231Ala) rs201805846 0.00001
NM_152309.3(PIK3AP1):c.854A>G (p.Gln285Arg) rs1440323214 0.00001
NM_152309.3(PIK3AP1):c.875A>T (p.Tyr292Phe) rs903471733 0.00001
NM_152309.3(PIK3AP1):c.917A>G (p.Lys306Arg) rs539294987 0.00001
NM_152309.3(PIK3AP1):c.937G>A (p.Gly313Arg) rs1280519942 0.00001
NM_173354.5(SIK1):c.1087C>T (p.Arg363Trp) rs755778593 0.00001
NM_173354.5(SIK1):c.1093C>T (p.Arg365Trp) rs1296194659 0.00001
NM_173354.5(SIK1):c.1105C>T (p.Leu369Phe) rs1396148473 0.00001
NM_173354.5(SIK1):c.1147C>G (p.Pro383Ala) rs746691059 0.00001
NM_173354.5(SIK1):c.1178C>T (p.Pro393Leu) rs375024211 0.00001
NM_173354.5(SIK1):c.1205A>C (p.Gln402Pro) rs1188686119 0.00001
NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg) rs746408860 0.00001
NM_173354.5(SIK1):c.1388C>G (p.Ser463Cys) rs1022873540 0.00001
NM_173354.5(SIK1):c.1415A>T (p.His472Leu) rs998623002 0.00001
NM_173354.5(SIK1):c.1424C>G (p.Ala475Gly) rs1163668338 0.00001
NM_173354.5(SIK1):c.1447C>T (p.Pro483Ser) rs781047363 0.00001
NM_173354.5(SIK1):c.1456G>A (p.Ala486Thr) rs1225191975 0.00001
NM_173354.5(SIK1):c.1487C>T (p.Thr496Met) rs539292224 0.00001
NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu) rs763399015 0.00001
NM_173354.5(SIK1):c.1568C>T (p.Thr523Ile) rs1389573601 0.00001
NM_173354.5(SIK1):c.1580_1581del (p.Gln527fs) rs761030360 0.00001
NM_173354.5(SIK1):c.1690C>T (p.Leu564Phe) rs770574136 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_173354.5(SIK1):c.1918G>A (p.Gly640Ser) rs763499196 0.00001
NM_173354.5(SIK1):c.200A>G (p.Asn67Ser) rs770927120 0.00001
NM_173354.5(SIK1):c.2153C>T (p.Ala718Val) rs772137462 0.00001
NM_173354.5(SIK1):c.2188A>T (p.Thr730Ser) rs1410454168 0.00001
NM_173354.5(SIK1):c.274-11T>G rs768226889 0.00001
NM_173354.5(SIK1):c.301A>G (p.Ile101Val) rs1162511475 0.00001
NM_173354.5(SIK1):c.37G>A (p.Gly13Ser) rs758084408 0.00001
NM_173354.5(SIK1):c.404C>T (p.Ser135Leu) rs780569607 0.00001
NM_173354.5(SIK1):c.409G>A (p.Val137Met) rs141382693 0.00001
NM_173354.5(SIK1):c.499+4C>T rs558742499 0.00001
NM_173354.5(SIK1):c.691A>G (p.Thr231Ala) rs745825829 0.00001
NM_173354.5(SIK1):c.817C>T (p.Arg273Trp) rs768230594 0.00001
NM_173354.5(SIK1):c.818G>A (p.Arg273Gln) rs377644840 0.00001
NM_173354.5(SIK1):c.826C>T (p.Arg276Trp) rs775013998 0.00001
NM_173354.5(SIK1):c.938A>G (p.Gln313Arg) rs1352926525 0.00001
NM_173354.5(SIK1):c.949G>A (p.Val317Met) rs752551158 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NC_000002.11:g.(?_165946640)_(166246354_?)dup
NC_000002.11:g.(?_165946660)_(166246334_?)dup
NC_000002.11:g.(?_165984121)_(166246354_?)dup
NC_000002.11:g.(?_166210682)_(167168266_?)dup
NC_000002.11:g.(?_166210692)_(166226819_?)dup
NC_000002.11:g.(?_166226616)_(166226829_?)dup
NC_000002.12:g.(?_165090130)_(166311776_?)dup
NC_000002.12:g.(?_165295804)_(165389844_?)dup
NC_000010.10:g.(?_98399836)_(98405338_?)dup
NC_000010.10:g.(?_98408406)_(98480151_?)dup
NC_000012.11:g.(?_11803062)_(15835885_?)dup
NC_000012.11:g.(?_13715717)_(14019142_?)dup
NC_000012.12:g.(?_12717002)_(13982130_?)dup
NC_000016.10:g.(?_78386840)_(78432772_?)dup
NC_000016.10:g.(?_78386840)_(78624496_?)dup
NC_000016.9:g.(?_1822222)_(2550959_?)dup
NC_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000016.9:g.(?_2546150)_(2550959_?)dup
NC_000016.9:g.(?_2549338)_(2550959_?)dup
NC_000016.9:g.(?_78133656)_(78133806_?)dup
NC_000016.9:g.(?_78133656)_(78149071_?)dup
NC_000016.9:g.(?_78133656)_(78198206_?)dup
NC_000016.9:g.(?_78133656)_(78458972_?)dup
NC_000016.9:g.(?_78133656)_(78466669_?)dup
NC_000016.9:g.(?_78133656)_(78658393_?)dup
NC_000016.9:g.(?_78133671)_(78466659_?)dup
NC_000016.9:g.(?_78133676)_(78420865_?)dup
NC_000016.9:g.(?_78133676)_(78466669_?)dup
NC_000016.9:g.(?_78312480)_(78466669_?)dup
NC_000016.9:g.(?_78312480)_(78658393_?)dup
NC_000019.10:g.(?_49861228)_(49861901_?)del
NC_000019.10:g.(?_49861228)_(49867224_?)dup
NC_000019.9:g.(?_49519325)_(50366015_?)dup
NC_000019.9:g.(?_49713446)_(50413064_?)dup
NC_000020.10:g.(?_8113279)_(8352117_?)dup
NC_000020.10:g.(?_8113279)_(8862516_?)dup
NC_000020.10:g.(?_8113299)_(8352107_?)dup
NC_000020.10:g.(?_8113299)_(8352117_?)dup
NC_000020.10:g.(?_8608921)_(8609098_?)del
NC_000020.10:g.(?_8608921)_(8862496_?)dup
NC_000020.10:g.(?_8630001)_(8637951_?)del
NC_000020.10:g.(?_8696891)_(8862496_?)dup
NC_000020.10:g.(?_8782683)_(8862516_?)dup
NC_000020.10:g.(?_8862249)_(8862516_?)dup
NC_000020.11:g.(?_8371362)_(8371470_?)del
NC_000020.11:g.(?_8646082)_(8881869_?)dup
NC_000020.11:g.(?_8684912)_(8685098_?)del
NC_000020.11:g.(?_8684912)_(8881869_?)dup
NC_000020.11:g.(?_8757026)_(8881869_?)dup
NC_000020.11:g.8722354_8722356del rs1979690177
NC_000021.8:g.(?_43160998)_(47754702_?)del
NC_000021.8:g.(?_43160998)_(47865240_?)dup
NC_000021.8:g.(?_43892908)_(45629566_?)del
NC_000021.8:g.(?_44473990)_(45629566_?)del
NC_000021.8:g.(?_44836622)_(44846058_?)dup
NC_000021.8:g.(?_44838120)_(45629566_?)dup
NC_000021.8:g.(?_44838130)_(45196150_?)dup
NC_000021.9:g.(?_43413515)_(43428122_?)dup
NC_000023.10:g.(?_17393861)_(18671684_?)dup
NC_000023.10:g.(?_17393881)_(18665472_?)dup
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.10:g.(?_18442725)_(18672749_?)dup
NC_000023.10:g.(?_18525053)_(18616753_?)dup
NC_000023.10:g.(?_18525053)_(18623008_?)dup
NC_000023.10:g.(?_18525053)_(18665462_?)dup
NC_000023.10:g.(?_18525053)_(18671664_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18525211)_(18671669_?)dup
NC_000023.10:g.(?_18599991)_(18600090_?)dup
NC_000023.10:g.(?_18660124)_(18690188_?)dup
NC_000023.10:g.(?_18668510)_(18668732_?)dup
NC_000023.10:g.(?_18671532)_(18671664_?)del
NC_000023.10:g.(?_18671532)_(18671664_?)dup
NC_000023.10:g.(?_18671542)_(18671664_?)del
NC_000023.10:g.(?_24512839)_(25033854_?)dup
NC_000023.10:g.(?_24544305)_(25025566_?)dup
NC_000023.10:g.(?_25013922)_(25025556_?)dup
NC_000023.10:g.(?_25022767)_(25033874_?)dup
NC_000023.10:g.(?_25022787)_(25033854_?)dup
NC_000023.10:g.(?_25028377)_(25033854_?)dup
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18653412)_(18653564_?)del
NC_000023.11:g.18646012G>A
NC_000023.11:g.18646036C>T
NC_000023.11:g.18646049C>T
NC_000023.11:g.18646059_18646060delinsTA rs2147192668
NC_000023.11:g.18646068G>A rs2147192682
NC_000023.11:g.18646084C>T rs2147192703
NC_000023.11:g.18646096G>T
NC_000023.11:g.18650442C>G rs200236257
NC_000023.11:g.18650452C>A
NC_000023.11:g.18650452C>T
NC_000023.11:g.18650460C>T rs1927981327
NC_000023.11:g.18650467G>A
NC_000023.11:g.18650469G>A
NC_000023.11:g.18650485T>A rs2147197777
NC_000023.11:g.18650491G>A
NC_000023.11:g.18650497C>T
NC_000023.11:g.18650499C>G
NC_000023.11:g.18650535T>A
NC_000023.11:g.18650541A>G
NC_000023.11:g.18650544C>T rs1927986563
NC_000023.11:g.18650593G>A rs1927989790
NC_000023.11:g.18653422T>G rs1928132057
NC_000023.11:g.18653450G>T
NC_000023.11:g.18653477A>G rs2147201225
NC_000023.11:g.18653492A>G
NC_000023.11:g.18653517T>A rs1928138947
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000834.5(GRIN2B):c.1013A>G (p.Tyr338Cys)
NM_000834.5(GRIN2B):c.101G>C (p.Ser34Thr)
NM_000834.5(GRIN2B):c.104T>A (p.Ile35Asn)
NM_000834.5(GRIN2B):c.104T>C (p.Ile35Thr) rs201568626
NM_000834.5(GRIN2B):c.1055G>A (p.Ser352Asn)
NM_000834.5(GRIN2B):c.1124G>A (p.Arg375Lys)
NM_000834.5(GRIN2B):c.1125+4A>G rs1950067723
NM_000834.5(GRIN2B):c.1126-13_1126-12inv
NM_000834.5(GRIN2B):c.1126-3C>T rs1555112424
NM_000834.5(GRIN2B):c.1147T>G (p.Ser383Ala) rs199671864
NM_000834.5(GRIN2B):c.1189G>A (p.Glu397Lys)
NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln) rs1555112356
NM_000834.5(GRIN2B):c.1240G>A (p.Ala414Thr) rs1949443718
NM_000834.5(GRIN2B):c.1273C>A (p.Leu425Met)
NM_000834.5(GRIN2B):c.1304C>G (p.Pro435Arg)
NM_000834.5(GRIN2B):c.1329-8T>A rs201154780
NM_000834.5(GRIN2B):c.1330A>T (p.Asn444Tyr) rs770946018
NM_000834.5(GRIN2B):c.1341C>G (p.Asp447Glu) rs35025065
NM_000834.5(GRIN2B):c.1349C>T (p.Pro450Leu)
NM_000834.5(GRIN2B):c.1427A>G (p.Tyr476Cys)
NM_000834.5(GRIN2B):c.1478C>A (p.Thr493Asn) rs2136479904
NM_000834.5(GRIN2B):c.1500G>A (p.Glu500=) rs886049102
NM_000834.5(GRIN2B):c.1509G>A (p.Met503Ile)
NM_000834.5(GRIN2B):c.1525G>A (p.Ala509Thr) rs1949421309
NM_000834.5(GRIN2B):c.1541C>A (p.Thr514Asn)
NM_000834.5(GRIN2B):c.1553A>G (p.Glu518Gly)
NM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser)
NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys) rs763469464
NM_000834.5(GRIN2B):c.1646C>G (p.Ala549Gly)
NM_000834.5(GRIN2B):c.1648T>C (p.Phe550Leu)
NM_000834.5(GRIN2B):c.1654+8A>G
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn) rs1949369220
NM_000834.5(GRIN2B):c.1667_1672dup (p.Asp557_Val558insAlaAsp)
NM_000834.5(GRIN2B):c.1705G>A (p.Val569Ile) rs1293991066
NM_000834.5(GRIN2B):c.1714G>A (p.Val572Met)
NM_000834.5(GRIN2B):c.1731T>G (p.Phe577Leu)
NM_000834.5(GRIN2B):c.1745C>T (p.Pro582Leu) rs796052581
NM_000834.5(GRIN2B):c.1756A>C (p.Asn586His) rs764017577
NM_000834.5(GRIN2B):c.177CCA[1] (p.His61del)
NM_000834.5(GRIN2B):c.1786G>C (p.Gly596Arg)
NM_000834.5(GRIN2B):c.17A>C (p.Glu6Ala)
NM_000834.5(GRIN2B):c.1807G>A (p.Gly603Ser)
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser) rs1591638805
NM_000834.5(GRIN2B):c.182A>G (p.His61Arg)
NM_000834.5(GRIN2B):c.1871A>G (p.Lys624Arg) rs2136470409
NM_000834.5(GRIN2B):c.187T>C (p.Ser63Pro) rs2136747223
NM_000834.5(GRIN2B):c.1927C>A (p.Leu643Met)
NM_000834.5(GRIN2B):c.1930G>A (p.Ala644Thr) rs2136470299
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser) rs879253945
NM_000834.5(GRIN2B):c.1957T>C (p.Phe653Leu)
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.196C>T (p.Pro66Ser) rs1865821300
NM_000834.5(GRIN2B):c.1995C>T (p.Gly665=) rs1316353433
NM_000834.5(GRIN2B):c.2009A>T (p.Lys670Met)
NM_000834.5(GRIN2B):c.2010+5G>A
NM_000834.5(GRIN2B):c.2010G>A (p.Lys670=) rs1369104116
NM_000834.5(GRIN2B):c.2033C>T (p.Ser678Leu) rs1948714012
NM_000834.5(GRIN2B):c.2036C>A (p.Pro679His)
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.5(GRIN2B):c.2064C>A (p.Asn688Lys) rs748606750
NM_000834.5(GRIN2B):c.2069G>T (p.Ser690Ile)
NM_000834.5(GRIN2B):c.2078G>C (p.Arg693Thr) rs1565457884
NM_000834.5(GRIN2B):c.2083A>G (p.Ile695Val)
NM_000834.5(GRIN2B):c.2098G>C (p.Ala700Pro)
NM_000834.5(GRIN2B):c.2099C>G (p.Ala700Gly) rs1191539298
NM_000834.5(GRIN2B):c.2099C>T (p.Ala700Val) rs1191539298
NM_000834.5(GRIN2B):c.2111C>T (p.Ala704Val) rs2136415760
NM_000834.5(GRIN2B):c.2177T>C (p.Leu726Pro) rs1591611012
NM_000834.5(GRIN2B):c.2229T>A (p.Asp743Glu) rs1173320185
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) rs1565457062
NM_000834.5(GRIN2B):c.2313G>T (p.Gly771=) rs150554184
NM_000834.5(GRIN2B):c.2320C>T (p.Arg774Cys) rs2136413178
NM_000834.5(GRIN2B):c.2321G>A (p.Arg774His)
NM_000834.5(GRIN2B):c.232C>A (p.Pro78Thr) rs1865820574
NM_000834.5(GRIN2B):c.2394T>A (p.Thr798=) rs1009828299
NM_000834.5(GRIN2B):c.23G>A (p.Cys8Tyr)
NM_000834.5(GRIN2B):c.23G>C (p.Cys8Ser) rs1060503160
NM_000834.5(GRIN2B):c.2422G>A (p.Val808Ile) rs1565455923
NM_000834.5(GRIN2B):c.244A>G (p.Ile82Val)
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2453T>G (p.Met818Arg) rs879254016
NM_000834.5(GRIN2B):c.2480C>T (p.Ala827Val)
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_000834.5(GRIN2B):c.251G>C (p.Arg84Pro)
NM_000834.5(GRIN2B):c.2536T>C (p.Phe846Leu)
NM_000834.5(GRIN2B):c.2538C>A (p.Phe846Leu) rs1414370305
NM_000834.5(GRIN2B):c.253A>G (p.Ile85Val)
NM_000834.5(GRIN2B):c.2551A>T (p.Met851Leu) rs1948649948
NM_000834.5(GRIN2B):c.2555G>A (p.Gly852Asp)
NM_000834.5(GRIN2B):c.2572C>G (p.Pro858Ala)
NM_000834.5(GRIN2B):c.2578A>G (p.Met860Val)
NM_000834.5(GRIN2B):c.2582T>C (p.Val861Ala) rs2136409430
NM_000834.5(GRIN2B):c.25T>C (p.Ser9Pro)
NM_000834.5(GRIN2B):c.2630T>G (p.Ile877Ser) rs2136406448
NM_000834.5(GRIN2B):c.2632G>A (p.Glu878Lys)
NM_000834.5(GRIN2B):c.2638C>A (p.Arg880Ser) rs1180122833
NM_000834.5(GRIN2B):c.2638C>T (p.Arg880Cys) rs1180122833
NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His) rs904771425
NM_000834.5(GRIN2B):c.266T>C (p.Met89Thr)
NM_000834.5(GRIN2B):c.2684A>G (p.His895Arg)
NM_000834.5(GRIN2B):c.2698C>T (p.Arg900Cys)
NM_000834.5(GRIN2B):c.2699G>A (p.Arg900His)
NM_000834.5(GRIN2B):c.271_274delinsCCCT (p.Asp91_Arg92delinsProTrp)
NM_000834.5(GRIN2B):c.2755C>A (p.Gln919Lys) rs1555102548
NM_000834.5(GRIN2B):c.2761G>A (p.Ala921Thr) rs1313881938
NM_000834.5(GRIN2B):c.2780G>A (p.Arg927Gln) rs199677214
NM_000834.5(GRIN2B):c.2791G>A (p.Val931Ile) rs199941557
NM_000834.5(GRIN2B):c.2795A>G (p.Tyr932Cys)
NM_000834.5(GRIN2B):c.2816G>T (p.Arg939Leu)
NM_000834.5(GRIN2B):c.282C>G (p.Ile94Met) rs147132902
NM_000834.5(GRIN2B):c.2834_2837dup (p.Cys946Ter) rs1948606788
NM_000834.5(GRIN2B):c.2848AAC[1] (p.Asn951del) rs2136406017
NM_000834.5(GRIN2B):c.2852A>T (p.Asn951Ile)
NM_000834.5(GRIN2B):c.2854C>G (p.Pro952Ala) rs1565454641
NM_000834.5(GRIN2B):c.2854C>T (p.Pro952Ser) rs1565454641
NM_000834.5(GRIN2B):c.2863GAG[1] (p.Glu956del)
NM_000834.5(GRIN2B):c.2866G>A (p.Glu956Lys) rs886049101
NM_000834.5(GRIN2B):c.2881G>A (p.Asp961Asn)
NM_000834.5(GRIN2B):c.2884_2886del (p.Tyr962del) rs2136405960
NM_000834.5(GRIN2B):c.2906C>T (p.Thr969Met)
NM_000834.5(GRIN2B):c.2914_2919dup (p.Asn972_Leu973dup) rs1948604917
NM_000834.5(GRIN2B):c.2946A>C (p.Gln982His) rs758533546
NM_000834.5(GRIN2B):c.2959C>T (p.His987Tyr)
NM_000834.5(GRIN2B):c.2981T>C (p.Ile994Thr)
NM_000834.5(GRIN2B):c.3004G>A (p.Gly1002Arg)
NM_000834.5(GRIN2B):c.3011A>G (p.Tyr1004Cys)
NM_000834.5(GRIN2B):c.3024C>A (p.Asn1008Lys)
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_000834.5(GRIN2B):c.3043T>G (p.Ser1015Ala) rs574130239
NM_000834.5(GRIN2B):c.3047G>C (p.Arg1016Thr)
NM_000834.5(GRIN2B):c.3073A>T (p.Ile1025Phe)
NM_000834.5(GRIN2B):c.3074T>G (p.Ile1025Ser)
NM_000834.5(GRIN2B):c.3092A>T (p.Lys1031Met) rs1311868719
NM_000834.5(GRIN2B):c.3102G>C (p.Gln1034His) rs1204745546
NM_000834.5(GRIN2B):c.3104T>C (p.Leu1035Pro)
NM_000834.5(GRIN2B):c.3118G>T (p.Gly1040Cys)
NM_000834.5(GRIN2B):c.3127T>C (p.Ser1043Pro)
NM_000834.5(GRIN2B):c.3139G>A (p.Asp1047Asn)
NM_000834.5(GRIN2B):c.313C>G (p.Gln105Glu)
NM_000834.5(GRIN2B):c.3141C>A (p.Asp1047Glu) rs1948598797
NM_000834.5(GRIN2B):c.3142C>G (p.Arg1048Gly) rs1216931858
NM_000834.5(GRIN2B):c.3152G>C (p.Gly1051Ala)
NM_000834.5(GRIN2B):c.3206C>T (p.Thr1069Ile)
NM_000834.5(GRIN2B):c.3221A>T (p.Glu1074Val)
NM_000834.5(GRIN2B):c.3227A>G (p.Asn1076Ser)
NM_000834.5(GRIN2B):c.3237G>C (p.Lys1079Asn)
NM_000834.5(GRIN2B):c.3272A>C (p.Lys1091Thr)
NM_000834.5(GRIN2B):c.3295C>T (p.Arg1099Cys)
NM_000834.5(GRIN2B):c.3296G>T (p.Arg1099Leu)
NM_000834.5(GRIN2B):c.3322G>A (p.Ala1108Thr)
NM_000834.5(GRIN2B):c.3323C>T (p.Ala1108Val)
NM_000834.5(GRIN2B):c.3335G>A (p.Arg1112Gln) rs557670363
NM_000834.5(GRIN2B):c.3352G>T (p.Asp1118Tyr) rs2136404881
NM_000834.5(GRIN2B):c.3361C>T (p.Arg1121Cys)
NM_000834.5(GRIN2B):c.3365A>G (p.Tyr1122Cys) rs749285212
NM_000834.5(GRIN2B):c.3367T>C (p.Phe1123Leu) rs1591606392
NM_000834.5(GRIN2B):c.3383G>A (p.Gly1128Glu) rs769658975
NM_000834.5(GRIN2B):c.3400C>G (p.Leu1134Val) rs979079013
NM_000834.5(GRIN2B):c.3400_3416del (p.Leu1134fs) rs1948591247
NM_000834.5(GRIN2B):c.3409T>A (p.Phe1137Ile) rs1060503159
NM_000834.5(GRIN2B):c.3415A>G (p.Thr1139Ala) rs200237781
NM_000834.5(GRIN2B):c.3416C>A (p.Thr1139Lys) rs1948591192
NM_000834.5(GRIN2B):c.3427T>A (p.Ser1143Thr)
NM_000834.5(GRIN2B):c.3434A>G (p.His1145Arg) rs2136404605
NM_000834.5(GRIN2B):c.3445G>A (p.Val1149Ile)
NM_000834.5(GRIN2B):c.3457G>A (p.Asp1153Asn)
NM_000834.5(GRIN2B):c.3459C>A (p.Asp1153Glu)
NM_000834.5(GRIN2B):c.3470A>G (p.Glu1157Gly) rs1565453853
NM_000834.5(GRIN2B):c.3472C>T (p.Arg1158Trp)
NM_000834.5(GRIN2B):c.3473G>C (p.Arg1158Pro) rs143955920
NM_000834.5(GRIN2B):c.3476G>A (p.Ser1159Asn) rs1220848394
NM_000834.5(GRIN2B):c.3476G>C (p.Ser1159Thr)
NM_000834.5(GRIN2B):c.3484T>G (p.Phe1162Val)
NM_000834.5(GRIN2B):c.3491G>A (p.Arg1164His)
NM_000834.5(GRIN2B):c.3509G>A (p.Gly1170Glu)
NM_000834.5(GRIN2B):c.3512G>A (p.Gly1171Glu) rs1948587537
NM_000834.5(GRIN2B):c.3535A>T (p.Ile1179Phe)
NM_000834.5(GRIN2B):c.3541C>T (p.His1181Tyr) rs2136404295
NM_000834.5(GRIN2B):c.3547A>G (p.Thr1183Ala)
NM_000834.5(GRIN2B):c.3548C>T (p.Thr1183Met) rs2136404253
NM_000834.5(GRIN2B):c.3566T>G (p.Val1189Gly)
NM_000834.5(GRIN2B):c.3572G>A (p.Ser1191Asn)
NM_000834.5(GRIN2B):c.3577G>A (p.Val1193Ile) rs201861590
NM_000834.5(GRIN2B):c.3581C>A (p.Pro1194His) rs1424106237
NM_000834.5(GRIN2B):c.3583G>A (p.Ala1195Thr) rs1455731420
NM_000834.5(GRIN2B):c.3597G>C (p.Lys1199Asn)
NM_000834.5(GRIN2B):c.3601C>G (p.Leu1201Val) rs1434222109
NM_000834.5(GRIN2B):c.3625C>T (p.Arg1209Trp)
NM_000834.5(GRIN2B):c.3629C>G (p.Ser1210Cys)
NM_000834.5(GRIN2B):c.3632G>A (p.Gly1211Glu) rs1255161034
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys) rs199834850
NM_000834.5(GRIN2B):c.3669C>G (p.His1223Gln)
NM_000834.5(GRIN2B):c.3689C>T (p.Thr1230Met)
NM_000834.5(GRIN2B):c.36C>G (p.Phe12Leu)
NM_000834.5(GRIN2B):c.370C>G (p.Leu124Val)
NM_000834.5(GRIN2B):c.3721C>T (p.Arg1241Trp)
NM_000834.5(GRIN2B):c.3745G>T (p.Gly1249Cys) rs796052577
NM_000834.5(GRIN2B):c.3764G>C (p.Ser1255Thr) rs1948579945
NM_000834.5(GRIN2B):c.3772A>G (p.Asn1258Asp)
NM_000834.5(GRIN2B):c.3782A>T (p.Gln1261Leu) rs1948579532
NM_000834.5(GRIN2B):c.3787C>G (p.Leu1263Val) rs1378542850
NM_000834.5(GRIN2B):c.378C>G (p.Ile126Met) rs2136746897
NM_000834.5(GRIN2B):c.3792C>G (p.Asp1264Glu)
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser) rs199935748
NM_000834.5(GRIN2B):c.3799G>A (p.Ala1267Thr) rs141844705
NM_000834.5(GRIN2B):c.3815T>G (p.Val1272Gly) rs75642143
NM_000834.5(GRIN2B):c.3835A>G (p.Thr1279Ala)
NM_000834.5(GRIN2B):c.3836C>T (p.Thr1279Ile)
NM_000834.5(GRIN2B):c.3844C>A (p.Pro1282Thr)
NM_000834.5(GRIN2B):c.3851G>T (p.Ser1284Ile) rs1948577072
NM_000834.5(GRIN2B):c.3873GAA[2] (p.Lys1293del)
NM_000834.5(GRIN2B):c.3875A>G (p.Lys1292Arg) rs1948576645
NM_000834.5(GRIN2B):c.3893T>C (p.Leu1298Pro) rs876661100
NM_000834.5(GRIN2B):c.3896G>A (p.Arg1299His)
NM_000834.5(GRIN2B):c.3902A>G (p.Gln1301Arg)
NM_000834.5(GRIN2B):c.392C>T (p.Ser131Phe)
NM_000834.5(GRIN2B):c.3946G>T (p.Ala1316Ser)
NM_000834.5(GRIN2B):c.397A>G (p.Ile133Val)
NM_000834.5(GRIN2B):c.3994G>A (p.Asp1332Asn)
NM_000834.5(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000834.5(GRIN2B):c.4016T>G (p.Met1339Arg) rs2136403185
NM_000834.5(GRIN2B):c.4021G>A (p.Glu1341Lys)
NM_000834.5(GRIN2B):c.4028C>T (p.Ser1343Leu)
NM_000834.5(GRIN2B):c.4036G>A (p.Glu1346Lys) rs766060662
NM_000834.5(GRIN2B):c.4053C>A (p.Asn1351Lys)
NM_000834.5(GRIN2B):c.4064C>T (p.Ser1355Leu)
NM_000834.5(GRIN2B):c.4093A>G (p.Asn1365Asp)
NM_000834.5(GRIN2B):c.4093AAC[1] (p.Asn1366del) rs1948572064
NM_000834.5(GRIN2B):c.4122C>A (p.Ser1374Arg)
NM_000834.5(GRIN2B):c.4172T>C (p.Phe1391Ser) rs1948570623
NM_000834.5(GRIN2B):c.4185G>T (p.Gln1395His)
NM_000834.5(GRIN2B):c.418T>A (p.Ser140Thr)
NM_000834.5(GRIN2B):c.4196A>G (p.His1399Arg) rs1565452791
NM_000834.5(GRIN2B):c.4203C>T (p.Ser1401=) rs772027875
NM_000834.5(GRIN2B):c.4205A>C (p.Lys1402Thr)
NM_000834.5(GRIN2B):c.4208C>G (p.Ser1403Cys)
NM_000834.5(GRIN2B):c.4240G>A (p.Ala1414Thr) rs140744818
NM_000834.5(GRIN2B):c.4249G>T (p.Ala1417Ser)
NM_000834.5(GRIN2B):c.4250C>G (p.Ala1417Gly)
NM_000834.5(GRIN2B):c.4250C>T (p.Ala1417Val)
NM_000834.5(GRIN2B):c.4259A>G (p.Asp1420Gly)
NM_000834.5(GRIN2B):c.4264C>G (p.Arg1422Gly)
NM_000834.5(GRIN2B):c.4264C>T (p.Arg1422Trp)
NM_000834.5(GRIN2B):c.4268C>T (p.Ala1423Val) rs1948568535
NM_000834.5(GRIN2B):c.4304dup (p.His1435fs)
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000834.5(GRIN2B):c.4310C>T (p.Ala1437Val) rs1948567394
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_000834.5(GRIN2B):c.4326C>G (p.Phe1442Leu) rs1565452565
NM_000834.5(GRIN2B):c.4330_4332del (p.Lys1444del)
NM_000834.5(GRIN2B):c.4390G>C (p.Ala1464Pro) rs1168549804
NM_000834.5(GRIN2B):c.4402T>C (p.Ser1468Pro)
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn) rs202133231
NM_000834.5(GRIN2B):c.4432T>C (p.Ser1478Pro) rs910793751
NM_000834.5(GRIN2B):c.4437del (p.Ser1479fs) rs1948563428
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val) rs796052570
NM_000834.5(GRIN2B):c.466G>A (p.Val156Ile) rs1555133189
NM_000834.5(GRIN2B):c.476A>G (p.Asn159Ser)
NM_000834.5(GRIN2B):c.478A>T (p.Ile160Phe)
NM_000834.5(GRIN2B):c.511A>T (p.Ile171Phe)
NM_000834.5(GRIN2B):c.533G>A (p.Gly178Asp)
NM_000834.5(GRIN2B):c.540G>A (p.Gln180=) rs1057523105
NM_000834.5(GRIN2B):c.542A>G (p.Asp181Gly) rs1060503161
NM_000834.5(GRIN2B):c.544T>C (p.Phe182Leu)
NM_000834.5(GRIN2B):c.5A>C (p.Lys2Thr) rs2136747631
NM_000834.5(GRIN2B):c.63_64delinsTG (p.Ser22Ala) rs2136747439
NM_000834.5(GRIN2B):c.674G>A (p.Ser225Asn) rs1060503158
NM_000834.5(GRIN2B):c.689T>C (p.Leu230Pro)
NM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg)
NM_000834.5(GRIN2B):c.718A>G (p.Ile240Val) rs2136629212
NM_000834.5(GRIN2B):c.731C>T (p.Ala244Val)
NM_000834.5(GRIN2B):c.748A>T (p.Thr250Ser) rs2136629146
NM_000834.5(GRIN2B):c.77C>T (p.Ala26Val)
NM_000834.5(GRIN2B):c.802A>C (p.Thr268Pro) rs921044614
NM_000834.5(GRIN2B):c.812C>A (p.Ala271Glu) rs138098032
NM_000834.5(GRIN2B):c.862G>C (p.Gly288Arg)
NM_000834.5(GRIN2B):c.877G>A (p.Val293Met)
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
NM_000834.5(GRIN2B):c.923T>C (p.Leu308Pro) rs1565524674
NM_000834.5(GRIN2B):c.94C>T (p.Pro32Ser) rs1383833874
NM_000834.5(GRIN2B):c.958A>G (p.Ser320Gly) rs1863520117
NM_000834.5(GRIN2B):c.95C>A (p.Pro32His)
NM_000834.5(GRIN2B):c.973C>T (p.His325Tyr)
NM_000834.5(GRIN2B):c.992A>C (p.Gln331Pro)
NM_001040142.2(SCN2A):c.*1209C>T rs1702103045
NM_001040142.2(SCN2A):c.*1359G>T rs1702107512
NM_001040142.2(SCN2A):c.*1592G>A rs902494496
NM_001040142.2(SCN2A):c.*1825A>G rs886055007
NM_001040142.2(SCN2A):c.*2454C>T rs886055008
NM_001040142.2(SCN2A):c.*264C>T rs1702070313
NM_001040142.2(SCN2A):c.*291G>T rs886055002
NM_001040142.2(SCN2A):c.*437G>A rs553239308
NM_001040142.2(SCN2A):c.*47G>A rs377384458
NM_001040142.2(SCN2A):c.*47G>T rs377384458
NM_001040142.2(SCN2A):c.*535A>T rs770662807
NM_001040142.2(SCN2A):c.*987A>G rs958016137
NM_001040142.2(SCN2A):c.-42A>C rs755901960
NM_001040142.2(SCN2A):c.-51-1652A>G rs886054999
NM_001040142.2(SCN2A):c.-51-1720dup rs1553563950
NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup rs1553563950
NM_001040142.2(SCN2A):c.-51-1733A>T rs76193610
NM_001040142.2(SCN2A):c.-51-1733_-51-1732dup rs886054996
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAA rs1553563951
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATTT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAGATT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGATT rs780674346
NM_001040142.2(SCN2A):c.-51-1734G>A rs886054990
NM_001040142.2(SCN2A):c.-51-1734_-51-1733del rs1553563943
NM_001040142.2(SCN2A):c.-51-1735_-51-1733del rs886054992
NM_001040142.2(SCN2A):c.-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup rs67417831
NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup rs67417831
NM_001040142.2(SCN2A):c.1028A>G (p.Asp343Gly) rs1057524164
NM_001040142.2(SCN2A):c.1034+3A>G
NM_001040142.2(SCN2A):c.1034+4A>G rs1697466247
NM_001040142.2(SCN2A):c.1034G>T (p.Gly345Val)
NM_001040142.2(SCN2A):c.1039T>C (p.Cys347Arg)
NM_001040142.2(SCN2A):c.1046A>C (p.Glu349Ala) rs1574566659
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1094C>G (p.Thr365Arg)
NM_001040142.2(SCN2A):c.109C>A (p.Pro37Thr) rs763906285
NM_001040142.2(SCN2A):c.1106C>A (p.Thr369Asn) rs1697568342
NM_001040142.2(SCN2A):c.110C>G (p.Pro37Arg)
NM_001040142.2(SCN2A):c.1129T>A (p.Leu377Ile) rs1697569806
NM_001040142.2(SCN2A):c.1156T>C (p.Trp386Arg)
NM_001040142.2(SCN2A):c.1165C>G (p.Leu389Val)
NM_001040142.2(SCN2A):c.1166T>A (p.Leu389His)
NM_001040142.2(SCN2A):c.1177-3C>G
NM_001040142.2(SCN2A):c.1177-6T>A rs2105255749
NM_001040142.2(SCN2A):c.1186G>A (p.Ala396Thr)
NM_001040142.2(SCN2A):c.118G>A (p.Glu40Lys) rs1553564192
NM_001040142.2(SCN2A):c.1198A>G (p.Thr400Ala)
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.1199C>T (p.Thr400Met)
NM_001040142.2(SCN2A):c.1206_1208del (p.Met402del)
NM_001040142.2(SCN2A):c.1208T>C (p.Ile403Thr)
NM_001040142.2(SCN2A):c.1219C>A (p.Leu407Met)
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.122G>T (p.Arg41Leu) rs754993031
NM_001040142.2(SCN2A):c.1238C>T (p.Ser413Leu) rs2105255865
NM_001040142.2(SCN2A):c.1249A>G (p.Ile417Val)
NM_001040142.2(SCN2A):c.1253A>G (p.Asn418Ser) rs1553568970
NM_001040142.2(SCN2A):c.1259T>A (p.Ile420Asn) rs1697584791
NM_001040142.2(SCN2A):c.1263G>A (p.Leu421=)
NM_001040142.2(SCN2A):c.1280C>T (p.Ala427Val)
NM_001040142.2(SCN2A):c.1285G>A (p.Glu429Lys) rs1553568987
NM_001040142.2(SCN2A):c.1292A>G (p.Gln431Arg) rs1697588104
NM_001040142.2(SCN2A):c.1300G>A (p.Ala434Thr) rs1553568999
NM_001040142.2(SCN2A):c.1301C>A (p.Ala434Asp)
NM_001040142.2(SCN2A):c.1314G>C (p.Glu438Asp) rs1697590312
NM_001040142.2(SCN2A):c.1330G>A (p.Ala444Thr) rs765670012
NM_001040142.2(SCN2A):c.1348C>T (p.Leu450Phe)
NM_001040142.2(SCN2A):c.134A>T (p.Asp45Val) rs748331725
NM_001040142.2(SCN2A):c.1360A>G (p.Lys454Glu)
NM_001040142.2(SCN2A):c.1361A>T (p.Lys454Ile)
NM_001040142.2(SCN2A):c.1370AAG[2] (p.Glu459del)
NM_001040142.2(SCN2A):c.1385C>A (p.Ala462Glu)
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.1393G>A (p.Ala465Thr)
NM_001040142.2(SCN2A):c.1395_1406dup (p.Ala466_Ala469dup) rs1697689259
NM_001040142.2(SCN2A):c.1396_1401dup (p.Ala466_Ala467dup) rs754615123
NM_001040142.2(SCN2A):c.1398_1400del (p.Ala467del)
NM_001040142.2(SCN2A):c.13G>A (p.Val5Met)
NM_001040142.2(SCN2A):c.1400C>T (p.Ala467Val) rs2105259518
NM_001040142.2(SCN2A):c.1429G>A (p.Ala477Thr) rs2105259608
NM_001040142.2(SCN2A):c.1436G>A (p.Gly479Glu) rs763114190
NM_001040142.2(SCN2A):c.1455G>C (p.Glu485Asp)
NM_001040142.2(SCN2A):c.1457G>T (p.Ser486Ile)
NM_001040142.2(SCN2A):c.1460C>A (p.Ser487Tyr) rs1697697157
NM_001040142.2(SCN2A):c.1460C>T (p.Ser487Phe) rs1697697157
NM_001040142.2(SCN2A):c.1472C>T (p.Ser491Phe) rs1697697928
NM_001040142.2(SCN2A):c.1484C>G (p.Ser495Cys) rs140661535
NM_001040142.2(SCN2A):c.148C>T (p.Pro50Ser)
NM_001040142.2(SCN2A):c.149C>A (p.Pro50Gln) rs2106149256
NM_001040142.2(SCN2A):c.1511G>A (p.Arg504Lys)
NM_001040142.2(SCN2A):c.1513A>G (p.Arg505Gly) rs1378908186
NM_001040142.2(SCN2A):c.1517A>G (p.Lys506Arg)
NM_001040142.2(SCN2A):c.1519A>G (p.Lys507Glu) rs1553569649
NM_001040142.2(SCN2A):c.1524G>T (p.Lys508Asn) rs2105259852
NM_001040142.2(SCN2A):c.1533A>T (p.Lys511Asn)
NM_001040142.2(SCN2A):c.1538A>G (p.Gln513Arg) rs905945919
NM_001040142.2(SCN2A):c.1541C>T (p.Ser514Phe)
NM_001040142.2(SCN2A):c.1545AGA[2] (p.Glu518del) rs1457091720
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His) rs1574572514
NM_001040142.2(SCN2A):c.1564A>G (p.Arg522Gly)
NM_001040142.2(SCN2A):c.1589A>G (p.Asp530Gly)
NM_001040142.2(SCN2A):c.158A>G (p.Asn53Ser)
NM_001040142.2(SCN2A):c.1592G>A (p.Ser531Asn) rs1697706158
NM_001040142.2(SCN2A):c.1594A>G (p.Ile532Val)
NM_001040142.2(SCN2A):c.1607G>A (p.Gly536Asp) rs1697707398
NM_001040142.2(SCN2A):c.160A>T (p.Ser54Cys) rs557687080
NM_001040142.2(SCN2A):c.1616T>C (p.Phe539Ser) rs2105260084
NM_001040142.2(SCN2A):c.163G>A (p.Asp55Asn)
NM_001040142.2(SCN2A):c.163G>C (p.Asp55His)
NM_001040142.2(SCN2A):c.1654T>C (p.Phe552Leu) rs1186187591
NM_001040142.2(SCN2A):c.1655T>C (p.Phe552Ser)
NM_001040142.2(SCN2A):c.1671+5A>C
NM_001040142.2(SCN2A):c.1691G>A (p.Gly564Asp)
NM_001040142.2(SCN2A):c.1721G>A (p.Arg574Lys)
NM_001040142.2(SCN2A):c.1738T>C (p.Phe580Leu)
NM_001040142.2(SCN2A):c.1741A>G (p.Arg581Gly)
NM_001040142.2(SCN2A):c.1751C>G (p.Ala584Gly) rs1015465660
NM_001040142.2(SCN2A):c.1759A>G (p.Ile587Val) rs148275498
NM_001040142.2(SCN2A):c.1777T>C (p.Phe593Leu) rs1698165274
NM_001040142.2(SCN2A):c.1786G>C (p.Asp596His)
NM_001040142.2(SCN2A):c.179A>G (p.Lys60Arg) rs1696487020
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.1827C>A (p.Asp609Glu)
NM_001040142.2(SCN2A):c.1861C>A (p.Arg621Ser)
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.1888C>G (p.Arg630Gly)
NM_001040142.2(SCN2A):c.188C>T (p.Pro63Leu)
NM_001040142.2(SCN2A):c.1898G>A (p.Arg633Lys)
NM_001040142.2(SCN2A):c.1901T>A (p.Val634Glu)
NM_001040142.2(SCN2A):c.1909A>T (p.Ile637Phe) rs758619758
NM_001040142.2(SCN2A):c.1919T>C (p.Met640Thr) rs1559362618
NM_001040142.2(SCN2A):c.1934A>G (p.His645Arg)
NM_001040142.2(SCN2A):c.1972G>A (p.Gly658Arg) rs767183298
NM_001040142.2(SCN2A):c.1972G>C (p.Gly658Arg)
NM_001040142.2(SCN2A):c.1973G>A (p.Gly658Glu)
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1978C>T (p.Pro660Ser)
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.1987C>G (p.Leu663Val) rs1017711579
NM_001040142.2(SCN2A):c.2009T>G (p.Leu670Arg) rs1698177953
NM_001040142.2(SCN2A):c.2016+6G>T rs748611550
NM_001040142.2(SCN2A):c.2017G>C (p.Gly673Arg) rs766339753
NM_001040142.2(SCN2A):c.2020A>G (p.Thr674Ala) rs1360867886
NM_001040142.2(SCN2A):c.2033C>G (p.Thr678Arg) rs1446046264
NM_001040142.2(SCN2A):c.2033C>T (p.Thr678Ile) rs1446046264
NM_001040142.2(SCN2A):c.2057G>A (p.Ser686Asn)
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile) rs796053190
NM_001040142.2(SCN2A):c.2062T>C (p.Tyr688His)
NM_001040142.2(SCN2A):c.2066A>C (p.His689Pro) rs778275125
NM_001040142.2(SCN2A):c.2075T>C (p.Met692Thr) rs779698884
NM_001040142.2(SCN2A):c.2096C>T (p.Thr699Ile) rs1060503100
NM_001040142.2(SCN2A):c.2102G>A (p.Arg701Lys)
NM_001040142.2(SCN2A):c.2130T>G (p.Ile710Met) rs2105284581
NM_001040142.2(SCN2A):c.2138A>G (p.Asn713Ser)
NM_001040142.2(SCN2A):c.2149+5G>A rs773024189
NM_001040142.2(SCN2A):c.2167C>A (p.Gln723Lys) rs1553574506
NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu) rs867268264
NM_001040142.2(SCN2A):c.218T>C (p.Met73Thr) rs2106149377
NM_001040142.2(SCN2A):c.2192A>C (p.Lys731Thr)
NM_001040142.2(SCN2A):c.2198C>T (p.Ala733Val)
NM_001040142.2(SCN2A):c.2204T>C (p.Met735Thr) rs924845392
NM_001040142.2(SCN2A):c.220G>A (p.Val74Met) rs1553564231
NM_001040142.2(SCN2A):c.2211G>T (p.Leu737Phe)
NM_001040142.2(SCN2A):c.2219A>C (p.Asp740Ala) rs747869260
NM_001040142.2(SCN2A):c.2266G>A (p.Val756Ile)
NM_001040142.2(SCN2A):c.2273A>G (p.Asp758Gly) rs1698669001
NM_001040142.2(SCN2A):c.2281G>C (p.Val761Leu) rs2105293473
NM_001040142.2(SCN2A):c.2293A>G (p.Ile765Val)
NM_001040142.2(SCN2A):c.2299A>G (p.Ile767Val)
NM_001040142.2(SCN2A):c.2300T>C (p.Ile767Thr) rs2105293488
NM_001040142.2(SCN2A):c.2320C>T (p.Leu774Phe) rs1458651318
NM_001040142.2(SCN2A):c.2351C>T (p.Thr784Met) rs758872788
NM_001040142.2(SCN2A):c.2357A>G (p.Gln786Arg) rs1698672623
NM_001040142.2(SCN2A):c.235G>C (p.Glu79Gln) rs1402926276
NM_001040142.2(SCN2A):c.2377G>A (p.Val793Ile) rs2105293604
NM_001040142.2(SCN2A):c.2388+5G>A
NM_001040142.2(SCN2A):c.2388G>C (p.Leu796=) rs2105293632
NM_001040142.2(SCN2A):c.239A>T (p.Asp80Val)
NM_001040142.2(SCN2A):c.2435C>T (p.Ala812Val) rs1699362667
NM_001040142.2(SCN2A):c.2447A>T (p.Tyr816Phe) rs2105314804
NM_001040142.2(SCN2A):c.247C>A (p.Pro83Thr) rs1696490964
NM_001040142.2(SCN2A):c.2482G>A (p.Gly828Ser)
NM_001040142.2(SCN2A):c.2495G>A (p.Ser832Asn) rs2105314862
NM_001040142.2(SCN2A):c.2506A>T (p.Met836Leu) rs1553578445
NM_001040142.2(SCN2A):c.2508G>A (p.Met836Ile) rs1559375240
NM_001040142.2(SCN2A):c.2512C>A (p.Leu838Ile)
NM_001040142.2(SCN2A):c.2513T>C (p.Leu838Pro)
NM_001040142.2(SCN2A):c.2539T>C (p.Ser847Pro) rs1699366480
NM_001040142.2(SCN2A):c.254A>T (p.Tyr85Phe)
NM_001040142.2(SCN2A):c.2588C>T (p.Ser863Phe) rs1215326426
NM_001040142.2(SCN2A):c.260A>G (p.Asn87Ser) rs2106149436
NM_001040142.2(SCN2A):c.2619C>A (p.Ile873=) rs868404050
NM_001040142.2(SCN2A):c.261T>A (p.Asn87Lys)
NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val) rs1559376694
NM_001040142.2(SCN2A):c.2653A>C (p.Thr885Pro) rs2105318789
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2656T>A (p.Leu886Met)
NM_001040142.2(SCN2A):c.2656T>G (p.Leu886Val)
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2664G>A (p.Leu888=) rs1699478461
NM_001040142.2(SCN2A):c.2680A>C (p.Ile894Leu) rs2105318835
NM_001040142.2(SCN2A):c.2684T>A (p.Phe895Tyr) rs1421192666
NM_001040142.2(SCN2A):c.2686G>T (p.Ala896Ser) rs2105318845
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.269C>T (p.Thr90Met)
NM_001040142.2(SCN2A):c.2713A>G (p.Lys905Glu) rs886043250
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys) rs1553579374
NM_001040142.2(SCN2A):c.2746A>C (p.Asn916His)
NM_001040142.2(SCN2A):c.276A>G (p.Ile92Met) rs761549438
NM_001040142.2(SCN2A):c.2776C>G (p.His926Asp) rs765106343
NM_001040142.2(SCN2A):c.277G>A (p.Val93Ile) rs1696548073
NM_001040142.2(SCN2A):c.2786T>C (p.Phe929Ser)
NM_001040142.2(SCN2A):c.2788C>T (p.His930Tyr) rs1699484099
NM_001040142.2(SCN2A):c.2821G>A (p.Gly941Arg)
NM_001040142.2(SCN2A):c.2837C>A (p.Thr946Asn)
NM_001040142.2(SCN2A):c.2858T>C (p.Val953Ala)
NM_001040142.2(SCN2A):c.2860G>A (p.Ala954Thr)
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn) rs2105319167
NM_001040142.2(SCN2A):c.2874G>T (p.Met958Ile)
NM_001040142.2(SCN2A):c.2888T>C (p.Phe963Ser) rs1699488989
NM_001040142.2(SCN2A):c.2890A>T (p.Met964Leu)
NM_001040142.2(SCN2A):c.2899A>T (p.Met967Leu)
NM_001040142.2(SCN2A):c.2902G>T (p.Val968Leu)
NM_001040142.2(SCN2A):c.2912A>G (p.Asn971Ser)
NM_001040142.2(SCN2A):c.2914C>A (p.Leu972Ile) rs2105319221
NM_001040142.2(SCN2A):c.2945T>G (p.Leu982Arg) rs1700069682
NM_001040142.2(SCN2A):c.2969A>G (p.Asn990Ser) rs753985224
NM_001040142.2(SCN2A):c.296C>T (p.Ala99Val)
NM_001040142.2(SCN2A):c.2977G>C (p.Ala993Pro)
NM_001040142.2(SCN2A):c.2978C>G (p.Ala993Gly) rs2105336862
NM_001040142.2(SCN2A):c.2983G>A (p.Asp995Asn)
NM_001040142.2(SCN2A):c.2985T>A (p.Asp995Glu) rs1336113495
NM_001040142.2(SCN2A):c.2987A>G (p.Asp996Gly) rs1574664322
NM_001040142.2(SCN2A):c.2989G>A (p.Asp997Asn)
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.2993A>G (p.Asn998Ser)
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) rs121917754
NM_001040142.2(SCN2A):c.3012G>T (p.Gln1004His)
NM_001040142.2(SCN2A):c.3029T>C (p.Met1010Thr)
NM_001040142.2(SCN2A):c.3037G>A (p.Gly1013Arg)
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3043G>C (p.Asp1015His)
NM_001040142.2(SCN2A):c.3043G>T (p.Asp1015Tyr) rs747451714
NM_001040142.2(SCN2A):c.3052A>G (p.Lys1018Glu)
NM_001040142.2(SCN2A):c.3061A>T (p.Ile1021Leu) rs1700074563
NM_001040142.2(SCN2A):c.3064C>T (p.Arg1022Cys) rs980593981
NM_001040142.2(SCN2A):c.3065G>C (p.Arg1022Pro)
NM_001040142.2(SCN2A):c.3068A>T (p.Glu1023Val) rs1411722259
NM_001040142.2(SCN2A):c.3104C>G (p.Ala1035Gly) rs766061576
NM_001040142.2(SCN2A):c.3116T>C (p.Ile1039Thr) rs1700078175
NM_001040142.2(SCN2A):c.3154T>C (p.Cys1052Arg) rs2105337207
NM_001040142.2(SCN2A):c.3155G>A (p.Cys1052Tyr)
NM_001040142.2(SCN2A):c.3165C>A (p.Asn1055Lys)
NM_001040142.2(SCN2A):c.3170C>T (p.Thr1057Ile)
NM_001040142.2(SCN2A):c.3179A>T (p.Glu1060Val)
NM_001040142.2(SCN2A):c.3182T>C (p.Ile1061Thr) rs781742853
NM_001040142.2(SCN2A):c.3184G>A (p.Gly1062Ser)
NM_001040142.2(SCN2A):c.3210C>G (p.Asp1070Glu) rs187731029
NM_001040142.2(SCN2A):c.3211G>A (p.Gly1071Arg) rs1553584033
NM_001040142.2(SCN2A):c.3231C>T (p.Gly1077=) rs775367520
NM_001040142.2(SCN2A):c.3274T>C (p.Tyr1092His)
NM_001040142.2(SCN2A):c.3275A>T (p.Tyr1092Phe) rs2105337416
NM_001040142.2(SCN2A):c.3320T>C (p.Ile1107Thr)
NM_001040142.2(SCN2A):c.3325G>C (p.Val1109Leu)
NM_001040142.2(SCN2A):c.3333A>T (p.Glu1111Asp) rs2105337534
NM_001040142.2(SCN2A):c.3337G>A (p.Asp1113Asn)
NM_001040142.2(SCN2A):c.3340T>C (p.Phe1114Leu)
NM_001040142.2(SCN2A):c.3359A>G (p.Glu1120Gly) rs1700088503
NM_001040142.2(SCN2A):c.3370A>T (p.Ser1124Cys) rs777414804
NM_001040142.2(SCN2A):c.3382A>G (p.Met1128Val)
NM_001040142.2(SCN2A):c.3383T>C (p.Met1128Thr) rs373780066
NM_001040142.2(SCN2A):c.3386A>G (p.Glu1129Gly) rs1423695098
NM_001040142.2(SCN2A):c.3395A>C (p.Lys1132Thr) rs2105337628
NM_001040142.2(SCN2A):c.3399+15A>G
NM_001040142.2(SCN2A):c.3408T>G (p.Asn1136Lys) rs890803233
NM_001040142.2(SCN2A):c.3410C>A (p.Ala1137Glu) rs1700657122
NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser) rs2105355734
NM_001040142.2(SCN2A):c.3428G>T (p.Gly1143Val) rs1287436433
NM_001040142.2(SCN2A):c.3445G>A (p.Gly1149Arg)
NM_001040142.2(SCN2A):c.3449C>G (p.Ala1150Gly) rs2105355786
NM_001040142.2(SCN2A):c.3455C>T (p.Ala1152Val) rs2105355801
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3457G>C (p.Glu1153Gln) rs200138205
NM_001040142.2(SCN2A):c.3458A>T (p.Glu1153Val)
NM_001040142.2(SCN2A):c.3463G>A (p.Glu1155Lys)
NM_001040142.2(SCN2A):c.3469C>G (p.Pro1157Ala) rs2105355838
NM_001040142.2(SCN2A):c.3470C>G (p.Pro1157Arg) rs1553589034
NM_001040142.2(SCN2A):c.3476T>C (p.Val1159Ala)
NM_001040142.2(SCN2A):c.3478G>C (p.Glu1160Gln) rs1553589056
NM_001040142.2(SCN2A):c.3479A>G (p.Glu1160Gly) rs1700660923
NM_001040142.2(SCN2A):c.3494T>A (p.Leu1165His)
NM_001040142.2(SCN2A):c.3517G>A (p.Glu1173Lys)
NM_001040142.2(SCN2A):c.3527T>C (p.Val1176Ala)
NM_001040142.2(SCN2A):c.3537C>G (p.Phe1179Leu) rs2105359518
NM_001040142.2(SCN2A):c.3542G>T (p.Cys1181Phe)
NM_001040142.2(SCN2A):c.3544T>C (p.Cys1182Arg)
NM_001040142.2(SCN2A):c.3545G>T (p.Cys1182Phe) rs2105359539
NM_001040142.2(SCN2A):c.3553A>G (p.Ser1185Gly) rs2105359571
NM_001040142.2(SCN2A):c.3554G>A (p.Ser1185Asn) rs764498057
NM_001040142.2(SCN2A):c.3558A>G (p.Ile1186Met) rs2105359590
NM_001040142.2(SCN2A):c.3568A>C (p.Lys1190Gln) rs1553590166
NM_001040142.2(SCN2A):c.3589T>A (p.Leu1197Met) rs2105359679
NM_001040142.2(SCN2A):c.3590T>C (p.Leu1197Ser)
NM_001040142.2(SCN2A):c.359A>T (p.Lys120Ile) rs1696551190
NM_001040142.2(SCN2A):c.3601T>G (p.Cys1201Gly)
NM_001040142.2(SCN2A):c.361T>G (p.Leu121Val) rs374951365
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.3666_3668del (p.Ser1222_Gly1223delinsArg) rs1574697784
NM_001040142.2(SCN2A):c.3670G>A (p.Ala1224Thr)
NM_001040142.2(SCN2A):c.367A>G (p.Ile123Val) rs1396703741
NM_001040142.2(SCN2A):c.3691T>C (p.Tyr1231His) rs1298081979
NM_001040142.2(SCN2A):c.3694A>G (p.Ile1232Val)
NM_001040142.2(SCN2A):c.3707A>G (p.Lys1236Arg) rs2105365136
NM_001040142.2(SCN2A):c.3712A>G (p.Ile1238Val) rs1700951980
NM_001040142.2(SCN2A):c.3719C>T (p.Thr1240Ile) rs2105365169
NM_001040142.2(SCN2A):c.3722T>C (p.Met1241Thr) rs1700952405
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_001040142.2(SCN2A):c.3738C>G (p.Asp1246Glu) rs1359219743
NM_001040142.2(SCN2A):c.3754A>G (p.Ile1252Val)
NM_001040142.2(SCN2A):c.3760A>T (p.Ile1254Phe)
NM_001040142.2(SCN2A):c.3767A>G (p.Glu1256Gly)
NM_001040142.2(SCN2A):c.3780G>C (p.Lys1260Asn) rs763442348
NM_001040142.2(SCN2A):c.3780G>T (p.Lys1260Asn)
NM_001040142.2(SCN2A):c.3793_3795del (p.Gly1265del) rs1700956276
NM_001040142.2(SCN2A):c.3802G>C (p.Val1268Leu) rs1700956689
NM_001040142.2(SCN2A):c.3811A>G (p.Thr1271Ala) rs1559395577
NM_001040142.2(SCN2A):c.3820T>C (p.Trp1274Arg) rs1700957249
NM_001040142.2(SCN2A):c.3849+4A>G rs1700958754
NM_001040142.2(SCN2A):c.3849+5G>C
NM_001040142.2(SCN2A):c.3849T>A (p.Asp1283Glu) rs752258602
NM_001040142.2(SCN2A):c.3859G>A (p.Val1287Ile)
NM_001040142.2(SCN2A):c.386+1A>C
NM_001040142.2(SCN2A):c.3869C>T (p.Thr1290Ile) rs1701137468
NM_001040142.2(SCN2A):c.3874A>G (p.Asn1292Asp) rs2105370639
NM_001040142.2(SCN2A):c.3875A>C (p.Asn1292Thr) rs1701137702
NM_001040142.2(SCN2A):c.3884G>A (p.Gly1295Asp) rs2105370652
NM_001040142.2(SCN2A):c.3922C>A (p.Leu1308Ile) rs2105370702
NM_001040142.2(SCN2A):c.3922C>G (p.Leu1308Val)
NM_001040142.2(SCN2A):c.3923T>G (p.Leu1308Arg)
NM_001040142.2(SCN2A):c.3926G>T (p.Arg1309Ile) rs1701139719
NM_001040142.2(SCN2A):c.3943A>G (p.Arg1315Gly) rs1553593080
NM_001040142.2(SCN2A):c.3944G>T (p.Arg1315Ile) rs796053129
NM_001040142.2(SCN2A):c.3951G>T (p.Leu1317Phe) rs1574712189
NM_001040142.2(SCN2A):c.395A>G (p.Asn132Ser) rs1309536386
NM_001040142.2(SCN2A):c.3973G>A (p.Val1325Ile)
NM_001040142.2(SCN2A):c.397A>G (p.Met133Val)
NM_001040142.2(SCN2A):c.398T>G (p.Met133Arg) rs2105241293
NM_001040142.2(SCN2A):c.399G>A (p.Met133Ile)
NM_001040142.2(SCN2A):c.399G>T (p.Met133Ile) rs2105241303
NM_001040142.2(SCN2A):c.4021C>G (p.Leu1341Val)
NM_001040142.2(SCN2A):c.4060A>G (p.Met1354Val) rs1701224136
NM_001040142.2(SCN2A):c.4118A>G (p.Glu1373Gly) rs918734456
NM_001040142.2(SCN2A):c.4121T>C (p.Met1374Thr)
NM_001040142.2(SCN2A):c.4139T>C (p.Val1380Ala)
NM_001040142.2(SCN2A):c.4139T>G (p.Val1380Gly)
NM_001040142.2(SCN2A):c.4142A>G (p.Asn1381Ser) rs2105373170
NM_001040142.2(SCN2A):c.4168A>G (p.Ile1390Val)
NM_001040142.2(SCN2A):c.4175G>A (p.Ser1392Asn)
NM_001040142.2(SCN2A):c.4191G>C (p.Arg1397Ser)
NM_001040142.2(SCN2A):c.4201G>A (p.Val1401Met) rs1264909971
NM_001040142.2(SCN2A):c.4201G>C (p.Val1401Leu) rs1264909971
NM_001040142.2(SCN2A):c.422C>G (p.Thr141Ser) rs1553567082
NM_001040142.2(SCN2A):c.4232G>A (p.Gly1411Glu) rs1701232096
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe) rs1559399522
NM_001040142.2(SCN2A):c.424A>G (p.Asn142Asp) rs1574552921
NM_001040142.2(SCN2A):c.4255-3C>T rs1553461654
NM_001040142.2(SCN2A):c.4255G>T (p.Ala1419Ser)
NM_001040142.2(SCN2A):c.4256C>G (p.Ala1419Gly)
NM_001040142.2(SCN2A):c.4258A>G (p.Thr1420Ala)
NM_001040142.2(SCN2A):c.4268G>A (p.Gly1423Glu)
NM_001040142.2(SCN2A):c.4276G>C (p.Asp1426His)
NM_001040142.2(SCN2A):c.4304G>A (p.Arg1435Gln) rs1574723722
NM_001040142.2(SCN2A):c.4327T>C (p.Tyr1443His)
NM_001040142.2(SCN2A):c.4337A>G (p.Asn1446Ser)
NM_001040142.2(SCN2A):c.4363A>G (p.Ile1455Val)
NM_001040142.2(SCN2A):c.4363A>T (p.Ile1455Phe) rs2105384627
NM_001040142.2(SCN2A):c.4366T>G (p.Phe1456Val)
NM_001040142.2(SCN2A):c.4369A>G (p.Ile1457Val) rs796053142
NM_001040142.2(SCN2A):c.4370T>A (p.Ile1457Asn)
NM_001040142.2(SCN2A):c.4379G>A (p.Gly1460Asp)
NM_001040142.2(SCN2A):c.4403T>C (p.Phe1468Ser) rs1701554113
NM_001040142.2(SCN2A):c.4406T>C (p.Ile1469Thr)
NM_001040142.2(SCN2A):c.4426T>C (p.Phe1476Leu)
NM_001040142.2(SCN2A):c.4428C>T (p.Phe1476=)
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4435C>G (p.Gln1479Glu) rs1553462134
NM_001040142.2(SCN2A):c.4446+5G>C
NM_001040142.2(SCN2A):c.4447-7_4447-3del rs1701578547
NM_001040142.2(SCN2A):c.4447T>C (p.Phe1483Leu)
NM_001040142.2(SCN2A):c.444G>A (p.Met148Ile)
NM_001040142.2(SCN2A):c.4451G>C (p.Gly1484Ala) rs2105385669
NM_001040142.2(SCN2A):c.4453G>A (p.Gly1485Ser) rs1701578958
NM_001040142.2(SCN2A):c.4453G>C (p.Gly1485Arg)
NM_001040142.2(SCN2A):c.4460A>T (p.Asp1487Val)
NM_001040142.2(SCN2A):c.4461C>G (p.Asp1487Glu) rs1553462203
NM_001040142.2(SCN2A):c.448A>G (p.Asn150Asp)
NM_001040142.2(SCN2A):c.4492T>C (p.Tyr1498His) rs2105385797
NM_001040142.2(SCN2A):c.4535C>A (p.Pro1512His) rs2105385911
NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)
NM_001040142.2(SCN2A):c.4537A>G (p.Ile1513Val)
NM_001040142.2(SCN2A):c.4538T>C (p.Ile1513Thr)
NM_001040142.2(SCN2A):c.4549G>A (p.Ala1517Thr) rs1701583848
NM_001040142.2(SCN2A):c.4549G>T (p.Ala1517Ser) rs1701583848
NM_001040142.2(SCN2A):c.4568T>A (p.Met1523Lys)
NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)
NM_001040142.2(SCN2A):c.4593A>T (p.Gln1531His) rs2105398231
NM_001040142.2(SCN2A):c.4607G>A (p.Ser1536Asn) rs1044510361
NM_001040142.2(SCN2A):c.4614G>A (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4614G>C (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4623C>G (p.Ile1541Met)
NM_001040142.2(SCN2A):c.463A>G (p.Thr155Ala)
NM_001040142.2(SCN2A):c.4640C>G (p.Thr1547Ser) rs2105398315
NM_001040142.2(SCN2A):c.4654A>G (p.Thr1552Ala)
NM_001040142.2(SCN2A):c.4655C>T (p.Thr1552Ile)
NM_001040142.2(SCN2A):c.4660G>T (p.Asp1554Tyr)
NM_001040142.2(SCN2A):c.4665G>C (p.Gln1555His)
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln) rs1553567130
NM_001040142.2(SCN2A):c.4672G>C (p.Glu1558Gln)
NM_001040142.2(SCN2A):c.4684A>G (p.Ile1562Val) rs779900992
NM_001040142.2(SCN2A):c.4693T>A (p.Trp1565Arg) rs1701902994
NM_001040142.2(SCN2A):c.4713T>G (p.Ile1571Met)
NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu) rs1558884200
NM_001040142.2(SCN2A):c.4736T>C (p.Val1579Ala) rs1384116109
NM_001040142.2(SCN2A):c.4748T>C (p.Ile1583Thr) rs367566833
NM_001040142.2(SCN2A):c.4757G>A (p.Arg1586His)
NM_001040142.2(SCN2A):c.476+6T>C
NM_001040142.2(SCN2A):c.4792G>T (p.Asp1598Tyr) rs2105398617
NM_001040142.2(SCN2A):c.4802T>C (p.Val1601Ala) rs1701908419
NM_001040142.2(SCN2A):c.4822+5G>A
NM_001040142.2(SCN2A):c.4827G>A (p.Met1609Ile) rs2105402003
NM_001040142.2(SCN2A):c.482C>A (p.Thr161Asn) rs2105243271
NM_001040142.2(SCN2A):c.4832T>A (p.Leu1611Gln) rs1701999328
NM_001040142.2(SCN2A):c.4832del (p.Leu1611fs)
NM_001040142.2(SCN2A):c.4840C>A (p.Leu1614Met)
NM_001040142.2(SCN2A):c.486T>A (p.Phe162Leu) rs1346837998
NM_001040142.2(SCN2A):c.4883T>C (p.Ile1628Thr) rs1553463420
NM_001040142.2(SCN2A):c.4892C>G (p.Ala1631Gly) rs1574751493
NM_001040142.2(SCN2A):c.4912C>A (p.Arg1638Ser) rs1702006147
NM_001040142.2(SCN2A):c.4912C>T (p.Arg1638Cys) rs1702006147
NM_001040142.2(SCN2A):c.4913_4914delinsCA (p.Arg1638Pro)
NM_001040142.2(SCN2A):c.4932G>C (p.Lys1644Asn)
NM_001040142.2(SCN2A):c.4940G>A (p.Arg1647His) rs797044927
NM_001040142.2(SCN2A):c.4940G>C (p.Arg1647Pro)
NM_001040142.2(SCN2A):c.4960A>G (p.Met1654Val)
NM_001040142.2(SCN2A):c.5005C>G (p.Leu1669Val) rs2105402420
NM_001040142.2(SCN2A):c.5027T>A (p.Ile1676Asn)
NM_001040142.2(SCN2A):c.5035A>G (p.Met1679Val)
NM_001040142.2(SCN2A):c.5042A>G (p.Asn1681Ser)
NM_001040142.2(SCN2A):c.5060G>A (p.Arg1687Lys) rs2105402498
NM_001040142.2(SCN2A):c.5066T>C (p.Val1689Ala) rs766554576
NM_001040142.2(SCN2A):c.5074G>A (p.Asp1692Asn) rs2105402518
NM_001040142.2(SCN2A):c.5080A>G (p.Met1694Val)
NM_001040142.2(SCN2A):c.5112G>C (p.Met1704Ile)
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu) rs1574752113
NM_001040142.2(SCN2A):c.5114T>C (p.Ile1705Thr) rs2105402552
NM_001040142.2(SCN2A):c.514A>G (p.Ile172Val)
NM_001040142.2(SCN2A):c.5167A>G (p.Ile1723Val)
NM_001040142.2(SCN2A):c.5175T>G (p.Asn1725Lys) rs1428775007
NM_001040142.2(SCN2A):c.5180G>C (p.Gly1727Ala)
NM_001040142.2(SCN2A):c.5180G>T (p.Gly1727Val) rs1702017827
NM_001040142.2(SCN2A):c.5182C>T (p.Pro1728Ser) rs2105402669
NM_001040142.2(SCN2A):c.5196C>A (p.Asp1732Glu) rs766372407
NM_001040142.2(SCN2A):c.51T>C (p.Phe17=)
NM_001040142.2(SCN2A):c.5219G>A (p.Ser1740Asn)
NM_001040142.2(SCN2A):c.5230G>A (p.Gly1744Arg) rs1553463570
NM_001040142.2(SCN2A):c.5236T>C (p.Cys1746Arg)
NM_001040142.2(SCN2A):c.5268T>A (p.Phe1756Leu) rs1702021533
NM_001040142.2(SCN2A):c.526G>T (p.Ala176Ser)
NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val) rs1702022330
NM_001040142.2(SCN2A):c.5281A>G (p.Ile1761Val) rs1574752573
NM_001040142.2(SCN2A):c.5341G>A (p.Val1781Ile) rs2105403003
NM_001040142.2(SCN2A):c.5342T>A (p.Val1781Asp) rs1702025029
NM_001040142.2(SCN2A):c.5359G>T (p.Ala1787Ser) rs760354266
NM_001040142.2(SCN2A):c.5364G>T (p.Glu1788Asp) rs199925238
NM_001040142.2(SCN2A):c.539G>A (p.Cys180Tyr) rs1064796281
NM_001040142.2(SCN2A):c.5419C>T (p.Pro1807Ser) rs1702027530
NM_001040142.2(SCN2A):c.5422G>A (p.Asp1808Asn)
NM_001040142.2(SCN2A):c.5423A>G (p.Asp1808Gly) rs1702028026
NM_001040142.2(SCN2A):c.5426C>T (p.Ala1809Val) rs1553463646
NM_001040142.2(SCN2A):c.5437A>G (p.Ile1813Val)
NM_001040142.2(SCN2A):c.543A>C (p.Leu181Phe) rs796053170
NM_001040142.2(SCN2A):c.544G>A (p.Glu182Lys)
NM_001040142.2(SCN2A):c.5452C>G (p.Leu1818Val)
NM_001040142.2(SCN2A):c.5465C>T (p.Ala1822Val) rs757542048
NM_001040142.2(SCN2A):c.5482C>G (p.Pro1828Ala) rs2105403223
NM_001040142.2(SCN2A):c.5488C>T (p.Leu1830Phe) rs1350014793
NM_001040142.2(SCN2A):c.5506A>C (p.Lys1836Gln)
NM_001040142.2(SCN2A):c.5506A>G (p.Lys1836Glu) rs779432244
NM_001040142.2(SCN2A):c.550T>A (p.Phe184Ile)
NM_001040142.2(SCN2A):c.5514G>C (p.Gln1838His) rs547095921
NM_001040142.2(SCN2A):c.5578G>C (p.Ala1860Pro)
NM_001040142.2(SCN2A):c.5588A>G (p.Lys1863Arg)
NM_001040142.2(SCN2A):c.5591G>A (p.Arg1864His) rs1558886589
NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser)
NM_001040142.2(SCN2A):c.5603A>G (p.Glu1868Gly) rs1553463750
NM_001040142.2(SCN2A):c.5604G>C (p.Glu1868Asp) rs1166366442
NM_001040142.2(SCN2A):c.560T>C (p.Leu187Ser) rs2105243435
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.5629A>T (p.Ile1877Leu) rs1271110064
NM_001040142.2(SCN2A):c.563G>A (p.Arg188Gln)
NM_001040142.2(SCN2A):c.5654C>T (p.Ala1885Val) rs1553463800
NM_001040142.2(SCN2A):c.5662C>A (p.Pro1888Thr) rs1553463814
NM_001040142.2(SCN2A):c.5668A>G (p.Lys1890Glu) rs1553463817
NM_001040142.2(SCN2A):c.5675C>T (p.Ser1892Phe) rs1558886841
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn) rs1702040004
NM_001040142.2(SCN2A):c.5680G>A (p.Glu1894Lys)
NM_001040142.2(SCN2A):c.5681A>G (p.Glu1894Gly)
NM_001040142.2(SCN2A):c.5683C>A (p.Pro1895Thr)
NM_001040142.2(SCN2A):c.569C>T (p.Pro190Leu)
NM_001040142.2(SCN2A):c.5720T>C (p.Val1907Ala)
NM_001040142.2(SCN2A):c.5728A>G (p.Ile1910Val) rs52803844
NM_001040142.2(SCN2A):c.5729T>C (p.Ile1910Thr)
NM_001040142.2(SCN2A):c.5731A>G (p.Ile1911Val) rs372294906
NM_001040142.2(SCN2A):c.5732T>C (p.Ile1911Thr) rs2105403778
NM_001040142.2(SCN2A):c.5743G>A (p.Ala1915Thr)
NM_001040142.2(SCN2A):c.5744C>G (p.Ala1915Gly)
NM_001040142.2(SCN2A):c.5744C>T (p.Ala1915Val)
NM_001040142.2(SCN2A):c.5783T>C (p.Val1928Ala)
NM_001040142.2(SCN2A):c.5793A>G (p.Ile1931Met)
NM_001040142.2(SCN2A):c.5794T>C (p.Tyr1932His) rs2105403922
NM_001040142.2(SCN2A):c.5819G>A (p.Cys1940Tyr)
NM_001040142.2(SCN2A):c.5819G>T (p.Cys1940Phe) rs755792692
NM_001040142.2(SCN2A):c.5833A>G (p.Ile1945Val)
NM_001040142.2(SCN2A):c.5840A>C (p.Glu1947Ala) rs1702049382
NM_001040142.2(SCN2A):c.5852T>C (p.Ile1951Thr)
NM_001040142.2(SCN2A):c.5854G>A (p.Asp1952Asn) rs1163504197
NM_001040142.2(SCN2A):c.5866G>A (p.Glu1956Lys)
NM_001040142.2(SCN2A):c.5873C>G (p.Ser1958Ter) rs1558887309
NM_001040142.2(SCN2A):c.5878C>T (p.Pro1960Ser)
NM_001040142.2(SCN2A):c.5892T>A (p.Asp1964Glu) rs2105404198
NM_001040142.2(SCN2A):c.5897C>T (p.Thr1966Met) rs112098080
NM_001040142.2(SCN2A):c.589A>C (p.Thr197Pro) rs1311569054
NM_001040142.2(SCN2A):c.5903C>G (p.Ser1968Cys) rs773545024
NM_001040142.2(SCN2A):c.5908A>G (p.Thr1970Ala)
NM_001040142.2(SCN2A):c.5914C>G (p.Pro1972Ala)
NM_001040142.2(SCN2A):c.5924A>G (p.Tyr1975Cys) rs1574754722
NM_001040142.2(SCN2A):c.5942C>G (p.Pro1981Arg) rs752211376
NM_001040142.2(SCN2A):c.5958T>A (p.Phe1986Leu) rs1702056050
NM_001040142.2(SCN2A):c.5962A>G (p.Lys1988Glu) rs1553463946
NM_001040142.2(SCN2A):c.5984A>G (p.Asp1995Gly) rs1574754954
NM_001040142.2(SCN2A):c.5995G>T (p.Asp1999Tyr) rs1702058510
NM_001040142.2(SCN2A):c.6007A>G (p.Ser2003Gly) rs1389700505
NM_001040142.2(SCN2A):c.6016_*4del (p.Ter2006LysextTer?) rs1574755053
NM_001040142.2(SCN2A):c.602T>C (p.Phe201Ser) rs1553567406
NM_001040142.2(SCN2A):c.605+3A>G
NM_001040142.2(SCN2A):c.605+4_605+7del rs1697274160
NM_001040142.2(SCN2A):c.606-16_606-3del
NM_001040142.2(SCN2A):c.608A>T (p.Tyr203Phe)
NM_001040142.2(SCN2A):c.609T>C (p.Tyr203=) rs1697310016
NM_001040142.2(SCN2A):c.643G>A (p.Ala215Thr) rs1131691927
NM_001040142.2(SCN2A):c.644C>T (p.Ala215Val)
NM_001040142.2(SCN2A):c.679A>C (p.Thr227Pro) rs1559352572
NM_001040142.2(SCN2A):c.679A>G (p.Thr227Ala) rs1559352572
NM_001040142.2(SCN2A):c.688G>A (p.Val230Ile) rs1697315910
NM_001040142.2(SCN2A):c.709_711delinsTTG (p.Ile237Leu) rs1559353139
NM_001040142.2(SCN2A):c.729G>C (p.Gln243His) rs1697361678
NM_001040142.2(SCN2A):c.737A>G (p.Lys246Arg) rs746181150
NM_001040142.2(SCN2A):c.742C>A (p.Leu248Ile) rs1697362478
NM_001040142.2(SCN2A):c.746C>T (p.Ser249Phe) rs1559353186
NM_001040142.2(SCN2A):c.74T>C (p.Ile25Thr) rs1366486532
NM_001040142.2(SCN2A):c.754A>T (p.Met252Leu) rs387906687
NM_001040142.2(SCN2A):c.755T>C (p.Met252Thr) rs1697363337
NM_001040142.2(SCN2A):c.761T>G (p.Leu254Trp)
NM_001040142.2(SCN2A):c.769T>A (p.Phe257Ile)
NM_001040142.2(SCN2A):c.787G>C (p.Ala263Pro) rs1697364931
NM_001040142.2(SCN2A):c.794T>C (p.Ile265Thr) rs1697365527
NM_001040142.2(SCN2A):c.802C>A (p.Gln268Lys)
NM_001040142.2(SCN2A):c.811A>G (p.Met271Val) rs1553567946
NM_001040142.2(SCN2A):c.813G>C (p.Met271Ile) rs1553567950
NM_001040142.2(SCN2A):c.824G>A (p.Arg275Gln) rs1697366992
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001040142.2(SCN2A):c.847C>G (p.Pro283Ala) rs765714006
NM_001040142.2(SCN2A):c.854A>G (p.Asn285Ser)
NM_001040142.2(SCN2A):c.88G>A (p.Ala30Thr) rs1337092354
NM_001040142.2(SCN2A):c.890A>G (p.Asn297Ser) rs796053174
NM_001040142.2(SCN2A):c.893A>G (p.Asn298Ser)
NM_001040142.2(SCN2A):c.8A>G (p.Gln3Arg)
NM_001040142.2(SCN2A):c.906G>T (p.Gly302=) rs1697371206
NM_001040142.2(SCN2A):c.911G>T (p.Gly304Val)
NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup) rs1469280756
NM_001040142.2(SCN2A):c.921C>G (p.Phe307Leu) rs1553568092
NM_001040142.2(SCN2A):c.974A>G (p.His325Arg) rs2105251421
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_001100913.3(PACS2):c.1706G>A (p.Arg569Gln)
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp) rs1589203624
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu) rs1455085342
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys) rs79650677
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln) rs587784432
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr) rs2131129868
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=) rs587784433
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter) rs1852298912
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser) rs766491965
NM_001130438.3(SPTAN1):c.2438-13T>G rs587784434
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs) rs1852530020
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser) rs587784435
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe) rs1852827656
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) rs764844675
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001130438.3(SPTAN1):c.3504G>C (p.Gln1168His)
NM_001130438.3(SPTAN1):c.3626A>C (p.Lys1209Thr)
NM_001130438.3(SPTAN1):c.364-3C>G rs1851102695
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn) rs1855652617
NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)
NM_001130438.3(SPTAN1):c.3886G>A (p.Ala1296Thr)
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr) rs1048236
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn) rs1856146384
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr) rs776999454
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile) rs1129924
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met) rs2131703648
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) rs146418243
NM_001130438.3(SPTAN1):c.5392G>T (p.Gly1798Cys) rs756006714
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly) rs772780483
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly) rs11543346
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln) rs1858936991
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met) rs2132089093
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr) rs767301092
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001130438.3(SPTAN1):c.7174T>G (p.Ser2392Ala)
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter) rs2132957934
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln) rs1850091477
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile)
NM_001165963.4(SCN1A):c.3625A>T (p.Arg1209Trp) rs2105610731
NM_001182.5(ALDH7A1):c.1480G>C (p.Gly494Arg)
NM_001184880.2(PCDH19):c.1151T>G (p.Val384Gly)
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp) rs1159971280
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val) rs2141874280
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met) rs769656369
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu) rs2141874400
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His) rs2065761961
NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)
NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser) rs2141874469
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup) rs752216831
NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)
NM_001199107.2(TBC1D24):c.1207-19A>G
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)
NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn) rs2065776034
NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys) rs776176742
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)
NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)
NM_001199107.2(TBC1D24):c.1303-5C>A rs1468286638
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)
NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala) rs2065781206
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)
NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)
NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)
NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr) rs2065781840
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) rs2065782431
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser) rs1326854687
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr) rs2141877364
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val) rs2065783244
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val) rs2065783330
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)
NM_001199107.2(TBC1D24):c.1525+6C>A
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)
NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu) rs755313242
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=) rs971385188
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn) rs2065787303
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser) rs2065788002
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)
NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) rs2141870903
NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser) rs952274725
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg) rs371245371
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val) rs2141870575
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn) rs2141871042
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)
NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) rs747915584
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp) rs2065739166
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr) rs2065739166
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly) rs2065739291
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn) rs2065739388
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)
NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)
NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)
NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met)
NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)
NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser) rs1457138817
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=) rs752594126
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp) rs777604231
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val) rs2065741608
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro) rs2065741689
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu) rs200263150
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val) rs1274130724
NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn) rs2141871675
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val) rs2065742678
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp) rs1169312508
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)
NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)
NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)
NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp) rs2065744128
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly) rs2065744128
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) rs483352866
NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr) rs2141872095
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr) rs1441237124
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) rs1159293544
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro) rs2065745991
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg) rs2141870701
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu) rs1555501289
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn) rs190306450
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp) rs1440897868
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys) rs369120050
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu) rs2065735848
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln) rs2065747894
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His) rs2065747955
NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)
NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu) rs772768393
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met) rs1328684138
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del) rs2141872549
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly) rs2141872557
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) rs867618745
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)
NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe) rs2065735946
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) rs1351414664
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala) rs2065736000
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu) rs760666914
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr) rs2141872755
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) rs1160994039
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln) rs2141872821
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) rs2141870761
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn) rs2141872825
NM_001199107.2(TBC1D24):c.965+4G>C rs781629915
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) rs1567412410
NM_001199107.2(TBC1D24):c.966-10T>A rs1217245218
NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu) rs1567412736
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr) rs2141873571
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=) rs774492330
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)
NM_001323289.2(CDKL5):c.100-3C>G rs2147132216
NM_001323289.2(CDKL5):c.1012C>T (p.His338Tyr)
NM_001323289.2(CDKL5):c.1033G>A (p.Asp345Asn)
NM_001323289.2(CDKL5):c.103A>C (p.Thr35Pro) rs1924898828
NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)
NM_001323289.2(CDKL5):c.1049G>A (p.Ser350Asn)
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
NM_001323289.2(CDKL5):c.1166A>T (p.Gln389Leu)
NM_001323289.2(CDKL5):c.1188T>A (p.Asp396Glu)
NM_001323289.2(CDKL5):c.1196A>G (p.Asn399Ser) rs267608611
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1230A>T (p.Glu410Asp)
NM_001323289.2(CDKL5):c.1273C>T (p.Pro425Ser) rs1926271094
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
NM_001323289.2(CDKL5):c.1291A>G (p.Thr431Ala)
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.1297T>C (p.Tyr433His)
NM_001323289.2(CDKL5):c.1314C>A (p.Ser438Arg)
NM_001323289.2(CDKL5):c.1328A>T (p.Asn443Ile)
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
NM_001323289.2(CDKL5):c.135G>T (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1404C>G (p.Ser468Arg) rs1926278693
NM_001323289.2(CDKL5):c.1463G>C (p.Ser488Thr)
NM_001323289.2(CDKL5):c.1477A>T (p.Ser493Cys) rs2147160801
NM_001323289.2(CDKL5):c.1540A>G (p.Ser514Gly)
NM_001323289.2(CDKL5):c.1552C>T (p.Pro518Ser)
NM_001323289.2(CDKL5):c.1592C>T (p.Thr531Ile)
NM_001323289.2(CDKL5):c.1602A>C (p.Arg534Ser) rs1385183228
NM_001323289.2(CDKL5):c.1613C>A (p.Thr538Lys)
NM_001323289.2(CDKL5):c.1657G>A (p.Gly553Arg)
NM_001323289.2(CDKL5):c.1667A>G (p.Asp556Gly) rs2147160978
NM_001323289.2(CDKL5):c.1689A>T (p.Arg563Ser) rs2147161018
NM_001323289.2(CDKL5):c.16A>G (p.Ile6Val)
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe) rs1378912528
NM_001323289.2(CDKL5):c.1766A>G (p.His589Arg) rs2147161126
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln) rs1925262394
NM_001323289.2(CDKL5):c.1799G>T (p.Ser600Ile) rs2147161196
NM_001323289.2(CDKL5):c.179A>G (p.Glu60Gly)
NM_001323289.2(CDKL5):c.17T>C (p.Ile6Thr)
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
NM_001323289.2(CDKL5):c.1837A>G (p.Met613Val)
NM_001323289.2(CDKL5):c.1874T>G (p.Leu625Trp)
NM_001323289.2(CDKL5):c.1883G>A (p.Ser628Asn) rs2147161274
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile) rs1602287027
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg) rs1602289171
NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)
NM_001323289.2(CDKL5):c.1982G>T (p.Arg661Ile)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2048G>A (p.Gly683Asp)
NM_001323289.2(CDKL5):c.2057A>T (p.Tyr686Phe) rs2047709269
NM_001323289.2(CDKL5):c.2066C>T (p.Pro689Leu) rs1326292288
NM_001323289.2(CDKL5):c.206A>C (p.Gln69Pro)
NM_001323289.2(CDKL5):c.2070C>G (p.His690Gln) rs2147164673
NM_001323289.2(CDKL5):c.2074G>A (p.Asp692Asn) rs2147164679
NM_001323289.2(CDKL5):c.2083A>G (p.Thr695Ala)
NM_001323289.2(CDKL5):c.2099A>G (p.Asn700Ser)
NM_001323289.2(CDKL5):c.2120C>G (p.Pro707Arg)
NM_001323289.2(CDKL5):c.2129G>A (p.Arg710Lys)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.2152+5G>T rs1926476615
NM_001323289.2(CDKL5):c.2153-64_2153-5delinsG rs1926607521
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)
NM_001323289.2(CDKL5):c.2171A>G (p.Asp724Gly)
NM_001323289.2(CDKL5):c.2171A>T (p.Asp724Val) rs1926616572
NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu) rs1926617510
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001323289.2(CDKL5):c.2219C>T (p.Pro740Leu) rs2147167595
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) rs1926619731
NM_001323289.2(CDKL5):c.2296A>T (p.Ser766Cys)
NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup) rs1555954068
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
NM_001323289.2(CDKL5):c.2354A>C (p.Lys785Thr)
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser) rs2147139630
NM_001323289.2(CDKL5):c.2371C>G (p.Gln791Glu)
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2376+4dup rs34335533
NM_001323289.2(CDKL5):c.2376+9A>G
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.2387C>G (p.Ser796Cys)
NM_001323289.2(CDKL5):c.2393G>A (p.Ser798Asn)
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001323289.2(CDKL5):c.241C>G (p.Arg81Gly) rs1925266779
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
NM_001323289.2(CDKL5):c.2437A>G (p.Thr813Ala) rs1927002061
NM_001323289.2(CDKL5):c.2479T>C (p.Ser827Pro)
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2530C>A (p.His844Asn)
NM_001323289.2(CDKL5):c.2545T>G (p.Ser849Ala)
NM_001323289.2(CDKL5):c.2548A>G (p.Asn850Asp)
NM_001323289.2(CDKL5):c.2551C>A (p.His851Asn)
NM_001323289.2(CDKL5):c.2555C>G (p.Pro852Arg) rs587783156
NM_001323289.2(CDKL5):c.2570C>G (p.Pro857Arg)
NM_001323289.2(CDKL5):c.2611T>G (p.Phe871Val) rs2147178975
NM_001323289.2(CDKL5):c.2680G>C (p.Ala894Pro) rs763110247
NM_001323289.2(CDKL5):c.2680G>T (p.Ala894Ser)
NM_001323289.2(CDKL5):c.2683C>A (p.Pro895Thr)
NM_001323289.2(CDKL5):c.2695C>G (p.Pro899Ala)
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2704C>A (p.Gln902Lys)
NM_001323289.2(CDKL5):c.2713G>A (p.Gly905Ser)
NM_001323289.2(CDKL5):c.274G>C (p.Val92Leu) rs2147139679
NM_001323289.2(CDKL5):c.282+3A>G
NM_001323289.2(CDKL5):c.282+5G>A rs1925269123
NM_001323289.2(CDKL5):c.282+5G>C
NM_001323289.2(CDKL5):c.283-8A>G
NM_001323289.2(CDKL5):c.2883A>T (p.Ter961Tyr)
NM_001323289.2(CDKL5):c.317G>A (p.Gly106Glu)
NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg) rs2147142685
NM_001323289.2(CDKL5):c.376T>G (p.Cys126Gly)
NM_001323289.2(CDKL5):c.377G>C (p.Cys126Ser) rs1925423604
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910
NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile) rs2147092100
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro) rs1925424843
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro) rs1925493091
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His) rs2147144038
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.440A>T (p.Asp147Val)
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.460T>C (p.Phe154Leu) rs2147144071
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.574G>A (p.Val192Met) rs998686458
NM_001323289.2(CDKL5):c.601_603del (p.Leu201del) rs2147148016
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.64+3A>G
NM_001323289.2(CDKL5):c.64+4A>G
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.678G>A (p.Val226=)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.680T>C (p.Leu227Pro) rs267608515
NM_001323289.2(CDKL5):c.719G>T (p.Ser240Ile)
NM_001323289.2(CDKL5):c.728G>A (p.Arg243His)
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.745-3C>G rs2147153520
NM_001323289.2(CDKL5):c.745-3C>T
NM_001323289.2(CDKL5):c.767A>G (p.Gln256Arg)
NM_001323289.2(CDKL5):c.794T>C (p.Ile265Thr) rs1925958833
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.803G>A (p.Ser268Asn) rs1925959502
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)
NM_001323289.2(CDKL5):c.844_855del (p.Pro282_Arg285del) rs2147156103
NM_001323289.2(CDKL5):c.856T>A (p.Tyr286Asn) rs2147156130
NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)
NM_001323289.2(CDKL5):c.86A>C (p.Lys29Thr)
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.887C>A (p.Thr296Lys)
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.951T>A (p.His317Gln)
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.99+9A>G rs1602233003
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys) rs1942829767
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser) rs1941432230
NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu) rs1198058104
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter) rs1555231189
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala) rs1565934813
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_001690.4(ATP6V1A):c.524C>T (p.Thr175Ile)
NM_003159.3(CDKL5):c.2741_2742del (p.Arg914fs)
NM_003159.3(CDKL5):c.2793del (p.Gln931fs) rs1927760301
NM_003159.3(CDKL5):c.2796del (p.Gly933fs)
NM_003159.3(CDKL5):c.2807_2809del (p.Phe936del)
NM_003159.3(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.3(CDKL5):c.2849del (p.Pro950fs) rs1927981164
NM_003159.3(CDKL5):c.2921T>C (p.Met974Thr) rs2147197846
NM_003159.3(CDKL5):c.2981G>C (p.Gly994Ala) rs2147201137
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) rs1557042706
NM_006279.5(ST3GAL3):c.-31+9631T>C rs1163915476
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His) rs2082916829
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_007254.4(PNKP):c.1001C>T (p.Ala334Val) rs571217111
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val) rs747297456
NM_007254.4(PNKP):c.1029+3G>A rs1304920403
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1030-12C>A
NM_007254.4(PNKP):c.1030-22_1041dup rs2122325507
NM_007254.4(PNKP):c.1043G>A (p.Arg348His) rs781551273
NM_007254.4(PNKP):c.1047A>T (p.Ser349=)
NM_007254.4(PNKP):c.1049G>A (p.Gly350Glu) rs2122325421
NM_007254.4(PNKP):c.1066G>A (p.Glu356Lys) rs1170743406
NM_007254.4(PNKP):c.1069T>C (p.Ser357Pro)
NM_007254.4(PNKP):c.1070C>T (p.Ser357Phe) rs1359253510
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys) rs1600417301
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu) rs756589726
NM_007254.4(PNKP):c.107G>C (p.Gly36Ala) rs756589726
NM_007254.4(PNKP):c.107G>T (p.Gly36Val) rs756589726
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.1113G>A (p.Val371=) rs1409679685
NM_007254.4(PNKP):c.1126+4A>G rs2122324733
NM_007254.4(PNKP):c.1126+5G>C rs1385764453
NM_007254.4(PNKP):c.1127-20C>T
NM_007254.4(PNKP):c.1127-3C>T
NM_007254.4(PNKP):c.1127-9C>A
NM_007254.4(PNKP):c.1144C>G (p.Leu382Val) rs754921430
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr) rs575803996
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser) rs575803996
NM_007254.4(PNKP):c.1188+5G>A
NM_007254.4(PNKP):c.1189-5C>A rs752826211
NM_007254.4(PNKP):c.121G>C (p.Val41Leu) rs2074826079
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1226G>T (p.Cys409Phe) rs2074769803
NM_007254.4(PNKP):c.124A>G (p.Thr42Ala) rs2074826042
NM_007254.4(PNKP):c.1258G>A (p.Ala420Thr) rs754981151
NM_007254.4(PNKP):c.1263C>G (p.Ile421Met)
NM_007254.4(PNKP):c.1264G>C (p.Asp422His)
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup) rs1258095629
NM_007254.4(PNKP):c.1276C>G (p.Pro426Ala)
NM_007254.4(PNKP):c.1282G>T (p.Ala428Ser) rs1568659088
NM_007254.4(PNKP):c.1285G>T (p.Ala429Ser) rs148386689
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu) rs1568659063
NM_007254.4(PNKP):c.1286C>A (p.Ala429Glu) rs769707108
NM_007254.4(PNKP):c.1288_1298+6dup rs1555810844
NM_007254.4(PNKP):c.1289G>A (p.Ser430Asn)
NM_007254.4(PNKP):c.1290_1298+6dup
NM_007254.4(PNKP):c.1291_1298+5dup rs1568658937
NM_007254.4(PNKP):c.1295_1298+6dup
NM_007254.4(PNKP):c.1296_1297insCCC (p.Ala432_Arg433insPro)
NM_007254.4(PNKP):c.1298+19dup rs1298736755
NM_007254.4(PNKP):c.1303_1305del (p.Val435del) rs2074764505
NM_007254.4(PNKP):c.1304T>C (p.Val435Ala)
NM_007254.4(PNKP):c.1314_1322dup (p.Arg439_Ala441dup) rs2122319196
NM_007254.4(PNKP):c.1315C>G (p.Arg439Gly) rs539286945
NM_007254.4(PNKP):c.1316_1317delinsTT (p.Arg439Leu) rs2074764098
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1321G>A (p.Ala441Thr) rs1351594110
NM_007254.4(PNKP):c.1322C>T (p.Ala441Val) rs549000007
NM_007254.4(PNKP):c.1325G>A (p.Gly442Asp) rs1360064159
NM_007254.4(PNKP):c.1327G>T (p.Val443Phe) rs1421167718
NM_007254.4(PNKP):c.1336C>T (p.Arg446Cys) rs1271713057
NM_007254.4(PNKP):c.1337_1342del (p.Arg446_Phe448delinsLeu) rs2122318958
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007254.4(PNKP):c.1363G>A (p.Glu455Lys) rs2122318761
NM_007254.4(PNKP):c.1367A>G (p.Gln456Arg)
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.1381A>C (p.Asn461His) rs775762473
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1387-3C>A rs1470343514
NM_007254.4(PNKP):c.1387-3C>T
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.1391G>T (p.Arg464Leu)
NM_007254.4(PNKP):c.1400C>A (p.Thr467Lys) rs769109631
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1409C>G (p.Ser470Cys)
NM_007254.4(PNKP):c.1409C>T (p.Ser470Phe) rs1231560062
NM_007254.4(PNKP):c.1412A>C (p.His471Pro) rs142032281
NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu) rs1600414629
NM_007254.4(PNKP):c.1435A>G (p.Met479Val) rs1264163330
NM_007254.4(PNKP):c.1436T>C (p.Met479Thr)
NM_007254.4(PNKP):c.1459G>A (p.Glu487Lys)
NM_007254.4(PNKP):c.1469C>T (p.Thr490Met) rs2122316177
NM_007254.4(PNKP):c.1480G>A (p.Gly494Ser)
NM_007254.4(PNKP):c.1480G>T (p.Gly494Cys) rs753976364
NM_007254.4(PNKP):c.1494C>G (p.Ile498Met) rs368390840
NM_007254.4(PNKP):c.1499A>G (p.Glu500Gly) rs2074753789
NM_007254.4(PNKP):c.1503C>G (p.Ile501Met) rs1293393287
NM_007254.4(PNKP):c.1505C>T (p.Pro502Leu) rs776190168
NM_007254.4(PNKP):c.151+6C>A
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp) rs148669160
NM_007254.4(PNKP):c.1516T>C (p.Trp506Arg) rs2074753341
NM_007254.4(PNKP):c.1518G>C (p.Trp506Cys) rs2122315682
NM_007254.4(PNKP):c.152-17A>C
NM_007254.4(PNKP):c.1531C>T (p.Leu511=) rs1423615371
NM_007254.4(PNKP):c.1534G>A (p.Gly512Arg)
NM_007254.4(PNKP):c.1534G>C (p.Gly512Arg) rs2074752931
NM_007254.4(PNKP):c.1535G>C (p.Gly512Ala)
NM_007254.4(PNKP):c.153G>A (p.Val51=) rs2074821167
NM_007254.4(PNKP):c.1548C>G (p.Cys516Trp) rs745579629
NM_007254.4(PNKP):c.1550A>T (p.Gln517Leu)
NM_007254.4(PNKP):c.1552T>C (p.Phe518Leu) rs979727253
NM_007254.4(PNKP):c.1553T>A (p.Phe518Tyr)
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys) rs770823063
NM_007254.4(PNKP):c.1566A>G (p.Ter522Trp) rs2122315087
NM_007254.4(PNKP):c.161T>A (p.Val54Asp) rs2074821139
NM_007254.4(PNKP):c.176C>T (p.Thr59Ile)
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp) rs761948305
NM_007254.4(PNKP):c.191T>G (p.Val64Gly) rs1600422789
NM_007254.4(PNKP):c.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.200T>G (p.Leu67Arg) rs747002499
NM_007254.4(PNKP):c.224G>T (p.Gly75Val) rs2074810870
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile) rs1600421787
NM_007254.4(PNKP):c.241C>T (p.Pro81Ser) rs1231251848
NM_007254.4(PNKP):c.251A>C (p.Glu84Ala) rs2074810716
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
NM_007254.4(PNKP):c.26_27delinsTT (p.Arg9Leu) rs2074827288
NM_007254.4(PNKP):c.277C>G (p.Leu93Val)
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.314G>T (p.Arg105Leu)
NM_007254.4(PNKP):c.322G>A (p.Glu108Lys)
NM_007254.4(PNKP):c.325A>T (p.Thr109Ser) rs979192418
NM_007254.4(PNKP):c.331A>G (p.Thr111Ala) rs1239561285
NM_007254.4(PNKP):c.331A>T (p.Thr111Ser) rs1239561285
NM_007254.4(PNKP):c.332C>T (p.Thr111Ile) rs756223253
NM_007254.4(PNKP):c.33G>T (p.Trp11Cys) rs577282123
NM_007254.4(PNKP):c.349G>C (p.Asp117His)
NM_007254.4(PNKP):c.365C>T (p.Thr122Ile)
NM_007254.4(PNKP):c.368C>A (p.Pro123His)
NM_007254.4(PNKP):c.374T>C (p.Val125Ala)
NM_007254.4(PNKP):c.386AGA[1] (p.Lys130del)
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.407C>G (p.Pro136Arg)
NM_007254.4(PNKP):c.407_421dup (p.Pro136_Met140dup) rs2074809327
NM_007254.4(PNKP):c.41G>A (p.Ser14Asn) rs749769775
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp) rs755037999
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg) rs751327913
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp) rs551774481
NM_007254.4(PNKP):c.432C>A (p.Asn144Lys) rs367883177
NM_007254.4(PNKP):c.446A>G (p.Asn149Ser)
NM_007254.4(PNKP):c.469A>G (p.Thr157Ala) rs376383779
NM_007254.4(PNKP):c.47C>T (p.Pro16Leu)
NM_007254.4(PNKP):c.496A>C (p.Lys166Gln) rs2074808568
NM_007254.4(PNKP):c.498+3G>T rs2074808518
NM_007254.4(PNKP):c.498G>T (p.Lys166Asn) rs141251138
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu) rs929865929
NM_007254.4(PNKP):c.524C>T (p.Thr175Met) rs2074802994
NM_007254.4(PNKP):c.527T>C (p.Leu176Pro)
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys) rs3739185
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.539G>C (p.Arg180Pro) rs779492301
NM_007254.4(PNKP):c.544G>A (p.Gly182Arg) rs2074802768
NM_007254.4(PNKP):c.576G>C (p.Trp192Cys)
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu) rs1600420665
NM_007254.4(PNKP):c.584T>C (p.Leu195Ser)
NM_007254.4(PNKP):c.587A>T (p.Tyr196Phe) rs138931842
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr) rs201968000
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.593A>C (p.Glu198Ala)
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr) rs1555811465
NM_007254.4(PNKP):c.610C>G (p.Arg204Gly)
NM_007254.4(PNKP):c.61C>T (p.Pro21Ser)
NM_007254.4(PNKP):c.622G>C (p.Ala208Pro)
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys) rs1600420551
NM_007254.4(PNKP):c.636+6_636+7del
NM_007254.4(PNKP):c.637-3C>T rs2074800259
NM_007254.4(PNKP):c.639G>T (p.Leu213=)
NM_007254.4(PNKP):c.666C>G (p.Ile222Met) rs587784369
NM_007254.4(PNKP):c.673G>C (p.Gly225Arg)
NM_007254.4(PNKP):c.683C>T (p.Pro228Leu) rs2122334512
NM_007254.4(PNKP):c.688GAG[1] (p.Glu231del)
NM_007254.4(PNKP):c.703A>G (p.Lys235Glu) rs2122334434
NM_007254.4(PNKP):c.721_723del (p.Glu241del) rs2122334363
NM_007254.4(PNKP):c.731G>A (p.Gly244Glu) rs777786941
NM_007254.4(PNKP):c.731G>T (p.Gly244Val)
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
NM_007254.4(PNKP):c.744+3A>G
NM_007254.4(PNKP):c.745-7_745-6delinsAA
NM_007254.4(PNKP):c.755C>T (p.Ala252Val) rs2122333454
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp) rs368301643
NM_007254.4(PNKP):c.793A>G (p.Met265Val)
NM_007254.4(PNKP):c.7G>A (p.Glu3Lys)
NM_007254.4(PNKP):c.816+3G>A rs763767031
NM_007254.4(PNKP):c.816+4_816+22del rs2122333064
NM_007254.4(PNKP):c.817-3T>C rs2074787691
NM_007254.4(PNKP):c.820A>G (p.Asn274Asp) rs1463305699
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del) rs1600418728
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.823G>T (p.Asp275Tyr)
NM_007254.4(PNKP):c.825C>G (p.Asp275Glu) rs2074787530
NM_007254.4(PNKP):c.826G>A (p.Gly276Ser) rs746254179
NM_007254.4(PNKP):c.826G>C (p.Gly276Arg) rs746254179
NM_007254.4(PNKP):c.827G>A (p.Gly276Asp)
NM_007254.4(PNKP):c.831_832delinsCT (p.Pro278Ser)
NM_007254.4(PNKP):c.853A>T (p.Ile285Phe) rs750224965
NM_007254.4(PNKP):c.884C>G (p.Ala295Gly)
NM_007254.4(PNKP):c.884C>T (p.Ala295Val) rs753695701
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.910_912del (p.Lys304del) rs2122328280
NM_007254.4(PNKP):c.911A>C (p.Lys304Thr)
NM_007254.4(PNKP):c.913G>A (p.Asp305Asn)
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe) rs1555811168
NM_007254.4(PNKP):c.920_922del (p.Ser307del) rs886042225
NM_007254.4(PNKP):c.922T>C (p.Cys308Arg) rs2074784418
NM_007254.4(PNKP):c.924C>G (p.Cys308Trp) rs771622669
NM_007254.4(PNKP):c.928G>T (p.Asp310Tyr)
NM_007254.4(PNKP):c.936+5G>A rs954048668
NM_007254.4(PNKP):c.943C>T (p.Leu315Phe)
NM_007254.4(PNKP):c.964G>A (p.Ala322Thr)
NM_007254.4(PNKP):c.986T>C (p.Leu329Pro) rs2074781406
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser) rs2138716131
NM_015192.4(PLCB1):c.*1081T>C rs573965594
NM_015192.4(PLCB1):c.*1173G>A rs1988050698
NM_015192.4(PLCB1):c.*1342A>C rs1988056532
NM_015192.4(PLCB1):c.*1409A>G rs886056975
NM_015192.4(PLCB1):c.*1473T>A rs1988060561
NM_015192.4(PLCB1):c.*1707A>C rs708910
NM_015192.4(PLCB1):c.*2205C>A rs534913354
NM_015192.4(PLCB1):c.*57T>C rs928795274
NM_015192.4(PLCB1):c.*589G>A rs1988029728
NM_015192.4(PLCB1):c.*743T>C rs886056971
NM_015192.4(PLCB1):c.-222C>G rs1600186673
NM_015192.4(PLCB1):c.-296A>G rs1600186615
NM_015192.4(PLCB1):c.-311T>G rs1370389155
NM_015192.4(PLCB1):c.1010-3T>A rs2123427893
NM_015192.4(PLCB1):c.1049G>A (p.Arg350His) rs909616713
NM_015192.4(PLCB1):c.106A>G (p.Thr36Ala) rs377750225
NM_015192.4(PLCB1):c.1073G>A (p.Arg358His)
NM_015192.4(PLCB1):c.1078G>C (p.Val360Leu) rs1224516482
NM_015192.4(PLCB1):c.113T>C (p.Val38Ala)
NM_015192.4(PLCB1):c.1159T>C (p.Ser387Pro)
NM_015192.4(PLCB1):c.1167+5A>G
NM_015192.4(PLCB1):c.1167+6G>A rs2123428266
NM_015192.4(PLCB1):c.1187C>T (p.Ala396Val)
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.1249T>G (p.Ser417Ala)
NM_015192.4(PLCB1):c.1274C>T (p.Ala425Val) rs1171674168
NM_015192.4(PLCB1):c.1286G>A (p.Arg429Gln) rs551873449
NM_015192.4(PLCB1):c.1288C>A (p.Leu430Met) rs1979306410
NM_015192.4(PLCB1):c.1303G>A (p.Ala435Thr)
NM_015192.4(PLCB1):c.1319C>A (p.Pro440His)
NM_015192.4(PLCB1):c.1323G>A (p.Leu441=) rs1231131549
NM_015192.4(PLCB1):c.1324G>A (p.Glu442Lys) rs1356153164
NM_015192.4(PLCB1):c.1368G>A (p.Met456Ile) rs1979399616
NM_015192.4(PLCB1):c.1379A>G (p.Tyr460Cys) rs1600272774
NM_015192.4(PLCB1):c.1408T>C (p.Ser470Pro) rs1208741312
NM_015192.4(PLCB1):c.1417T>C (p.Ser473Pro) rs896514396
NM_015192.4(PLCB1):c.1463A>T (p.Asn488Ile)
NM_015192.4(PLCB1):c.1473T>A (p.Ser491Arg) rs2123468950
NM_015192.4(PLCB1):c.1501T>G (p.Ser501Ala) rs763886018
NM_015192.4(PLCB1):c.1508G>A (p.Gly503Glu)
NM_015192.4(PLCB1):c.1538A>G (p.Asp513Gly) rs941680744
NM_015192.4(PLCB1):c.1544A>T (p.Asp515Val) rs1568573426
NM_015192.4(PLCB1):c.1557C>A (p.Asp519Glu) rs1979694638
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.1573A>T (p.Met525Leu) rs138851178
NM_015192.4(PLCB1):c.1591G>C (p.Gly531Arg) rs1979835329
NM_015192.4(PLCB1):c.1603A>G (p.Met535Val) rs1979835703
NM_015192.4(PLCB1):c.1685A>G (p.Asn562Ser) rs1319493393
NM_015192.4(PLCB1):c.171A>C (p.Gln57His) rs2123032607
NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys) rs1600279991
NM_015192.4(PLCB1):c.1754A>G (p.Glu585Gly)
NM_015192.4(PLCB1):c.1763+2T>G rs1568574966
NM_015192.4(PLCB1):c.1764A>T (p.Glu588Asp) rs1334933670
NM_015192.4(PLCB1):c.177+8_177+13del
NM_015192.4(PLCB1):c.1773A>T (p.Lys591Asn) rs2123491392
NM_015192.4(PLCB1):c.1774A>T (p.Met592Leu) rs1457373665
NM_015192.4(PLCB1):c.178-3C>T rs2122343481
NM_015192.4(PLCB1):c.1808G>T (p.Arg603Leu)
NM_015192.4(PLCB1):c.1813G>T (p.Asp605Tyr) rs2123491460
NM_015192.4(PLCB1):c.1831C>T (p.Pro611Ser) rs1980094549
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val) rs1555786704
NM_015192.4(PLCB1):c.1957G>C (p.Glu653Gln) rs2123500903
NM_015192.4(PLCB1):c.196C>T (p.Leu66Phe) rs2122343584
NM_015192.4(PLCB1):c.1970G>A (p.Arg657Lys) rs1980372070
NM_015192.4(PLCB1):c.199A>C (p.Ser67Arg) rs1986899325
NM_015192.4(PLCB1):c.2008G>T (p.Val670Leu) rs772981786
NM_015192.4(PLCB1):c.200G>C (p.Ser67Thr) rs775742325
NM_015192.4(PLCB1):c.2015G>A (p.Gly672Glu) rs1555786715
NM_015192.4(PLCB1):c.2017A>G (p.Ile673Val)
NM_015192.4(PLCB1):c.209A>G (p.Lys70Arg)
NM_015192.4(PLCB1):c.2138T>G (p.Phe713Cys) rs2123510528
NM_015192.4(PLCB1):c.2141A>G (p.Lys714Arg) rs2123510534
NM_015192.4(PLCB1):c.214G>A (p.Ala72Thr) rs2122343640
NM_015192.4(PLCB1):c.2176G>C (p.Val726Leu)
NM_015192.4(PLCB1):c.2213T>C (p.Val738Ala) rs1980744187
NM_015192.4(PLCB1):c.223G>A (p.Gly75Arg)
NM_015192.4(PLCB1):c.2243C>T (p.Ala748Val) rs1980745626
NM_015192.4(PLCB1):c.2251G>A (p.Glu751Lys)
NM_015192.4(PLCB1):c.2270T>C (p.Ile757Thr) rs1488351224
NM_015192.4(PLCB1):c.2278C>T (p.Arg760Cys) rs1194618095
NM_015192.4(PLCB1):c.2290G>C (p.Val764Leu)
NM_015192.4(PLCB1):c.2293C>G (p.Gln765Glu) rs1980748318
NM_015192.4(PLCB1):c.2302C>T (p.Arg768Trp)
NM_015192.4(PLCB1):c.2318A>T (p.Tyr773Phe) rs948237591
NM_015192.4(PLCB1):c.2320A>T (p.Ile774Phe)
NM_015192.4(PLCB1):c.2324G>A (p.Cys775Tyr) rs1209875193
NM_015192.4(PLCB1):c.2335G>A (p.Glu779Lys)
NM_015192.4(PLCB1):c.2346G>C (p.Gln782His) rs2123518683
NM_015192.4(PLCB1):c.2347C>A (p.Pro783Thr) rs1980812475
NM_015192.4(PLCB1):c.2377A>G (p.Ile793Val) rs1980815338
NM_015192.4(PLCB1):c.2413+3A>C rs2123518817
NM_015192.4(PLCB1):c.2413+6C>A
NM_015192.4(PLCB1):c.2422G>A (p.Glu808Lys)
NM_015192.4(PLCB1):c.242C>T (p.Pro81Leu) rs2122343800
NM_015192.4(PLCB1):c.2446T>C (p.Tyr816His)
NM_015192.4(PLCB1):c.2449G>A (p.Val817Met) rs1568580795
NM_015192.4(PLCB1):c.2458A>T (p.Met820Leu)
NM_015192.4(PLCB1):c.245A>T (p.Lys82Met) rs1600350860
NM_015192.4(PLCB1):c.247-3C>A rs1568534926
NM_015192.4(PLCB1):c.2494C>G (p.Leu832Val) rs2123521466
NM_015192.4(PLCB1):c.2504AAG[2] (p.Glu837del) rs1213359058
NM_015192.4(PLCB1):c.2506G>A (p.Glu836Lys) rs1980880915
NM_015192.4(PLCB1):c.2507A>G (p.Glu836Gly)
NM_015192.4(PLCB1):c.250C>A (p.Pro84Thr)
NM_015192.4(PLCB1):c.251C>T (p.Pro84Leu) rs781293608
NM_015192.4(PLCB1):c.2523+3G>A rs2123521598
NM_015192.4(PLCB1):c.2543C>T (p.Pro848Leu) rs2123562586
NM_015192.4(PLCB1):c.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.2560G>C (p.Glu854Gln) rs1227346164
NM_015192.4(PLCB1):c.2565G>C (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2569A>G (p.Thr857Ala)
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.2609T>C (p.Leu870Pro) rs1171306759
NM_015192.4(PLCB1):c.2611A>G (p.Thr871Ala) rs1981777815
NM_015192.4(PLCB1):c.2614C>A (p.Pro872Thr) rs769110563
NM_015192.4(PLCB1):c.2619G>T (p.Lys873Asn) rs1981778719
NM_015192.4(PLCB1):c.2623C>T (p.Pro875Ser) rs1568586909
NM_015192.4(PLCB1):c.2624C>A (p.Pro875His) rs1386644525
NM_015192.4(PLCB1):c.2650G>A (p.Ala884Thr) rs1274123563
NM_015192.4(PLCB1):c.265C>A (p.Leu89Ile) rs1988421541
NM_015192.4(PLCB1):c.2669C>T (p.Ala890Val) rs2123572097
NM_015192.4(PLCB1):c.2680A>G (p.Thr894Ala) rs2123572151
NM_015192.4(PLCB1):c.2708C>A (p.Thr903Lys) rs775341189
NM_015192.4(PLCB1):c.2779T>C (p.Tyr927His) rs2123585864
NM_015192.4(PLCB1):c.2788A>G (p.Met930Val)
NM_015192.4(PLCB1):c.2789T>C (p.Met930Thr)
NM_015192.4(PLCB1):c.2797C>G (p.Leu933Val) rs143664316
NM_015192.4(PLCB1):c.2798T>C (p.Leu933Pro) rs147191017
NM_015192.4(PLCB1):c.2807G>A (p.Arg936Lys) rs1982257294
NM_015192.4(PLCB1):c.2813A>G (p.His938Arg) rs1982257980
NM_015192.4(PLCB1):c.2830C>A (p.Leu944Ile) rs561685256
NM_015192.4(PLCB1):c.2830C>G (p.Leu944Val) rs561685256
NM_015192.4(PLCB1):c.2836A>G (p.Lys946Glu)
NM_015192.4(PLCB1):c.283A>C (p.Ile95Leu) rs199888561
NM_015192.4(PLCB1):c.2844C>A (p.His948Gln)
NM_015192.4(PLCB1):c.290G>A (p.Arg97His) rs747785129
NM_015192.4(PLCB1):c.2951A>G (p.Asp984Gly)
NM_015192.4(PLCB1):c.295G>C (p.Glu99Gln) rs1555777814
NM_015192.4(PLCB1):c.2965A>G (p.Thr989Ala)
NM_015192.4(PLCB1):c.2966C>A (p.Thr989Lys) rs1982851592
NM_015192.4(PLCB1):c.2966C>T (p.Thr989Met)
NM_015192.4(PLCB1):c.29C>G (p.Ala10Gly) rs1568564198
NM_015192.4(PLCB1):c.29C>T (p.Ala10Val) rs1568564198
NM_015192.4(PLCB1):c.3004A>C (p.Thr1002Pro) rs1358746132
NM_015192.4(PLCB1):c.3015A>C (p.Leu1005Phe) rs765989029
NM_015192.4(PLCB1):c.3016A>G (p.Ile1006Val) rs2146203878
NM_015192.4(PLCB1):c.3052A>G (p.Asn1018Asp) rs2146203906
NM_015192.4(PLCB1):c.3058C>T (p.Arg1020Trp) rs1023330264
NM_015192.4(PLCB1):c.3071A>G (p.Tyr1024Cys) rs1982859175
NM_015192.4(PLCB1):c.3112-10_3112-8del rs1163689360
NM_015192.4(PLCB1):c.3115A>C (p.Ile1039Leu)
NM_015192.4(PLCB1):c.3127A>G (p.Thr1043Ala) rs1983594595
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser) rs778097231
NM_015192.4(PLCB1):c.3143A>C (p.Glu1048Ala) rs2146220200
NM_015192.4(PLCB1):c.316G>A (p.Val106Met)
NM_015192.4(PLCB1):c.316G>C (p.Val106Leu) rs1181797347
NM_015192.4(PLCB1):c.3188+5G>C rs2146220264
NM_015192.4(PLCB1):c.3188A>C (p.Lys1063Thr) rs1371029553
NM_015192.4(PLCB1):c.3215T>C (p.Met1072Thr)
NM_015192.4(PLCB1):c.3238A>G (p.Ile1080Val) rs1303531069
NM_015192.4(PLCB1):c.3239T>C (p.Ile1080Thr) rs1983606408
NM_015192.4(PLCB1):c.325C>T (p.Pro109Ser) rs748150163
NM_015192.4(PLCB1):c.3271A>G (p.Met1091Val)
NM_015192.4(PLCB1):c.3272T>C (p.Met1091Thr)
NM_015192.4(PLCB1):c.3273G>A (p.Met1091Ile) rs1983608682
NM_015192.4(PLCB1):c.3278+13T>C rs886056965
NM_015192.4(PLCB1):c.331C>T (p.Leu111Phe) rs373051695
NM_015192.4(PLCB1):c.3336+3A>G rs773248262
NM_015192.4(PLCB1):c.3337-3T>C rs778662535
NM_015192.4(PLCB1):c.3337-6T>G rs2146222772
NM_015192.4(PLCB1):c.3341A>T (p.Glu1114Val) rs1983683540
NM_015192.4(PLCB1):c.3346G>A (p.Ala1116Thr) rs1983683787
NM_015192.4(PLCB1):c.3358C>T (p.Arg1120Trp) rs2146222855
NM_015192.4(PLCB1):c.3364G>A (p.Glu1122Lys)
NM_015192.4(PLCB1):c.3370C>T (p.Leu1124Phe) rs1983685665
NM_015192.4(PLCB1):c.3373G>T (p.Val1125Leu) rs773333771
NM_015192.4(PLCB1):c.3394C>A (p.Arg1132Ser) rs755357721
NM_015192.4(PLCB1):c.3394C>G (p.Arg1132Gly) rs755357721
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.3400C>G (p.Gln1134Glu)
NM_015192.4(PLCB1):c.3419C>A (p.Pro1140His) rs2146222951
NM_015192.4(PLCB1):c.3423G>A (p.Lys1141=) rs2146222958
NM_015192.4(PLCB1):c.3447A>C (p.Glu1149Asp) rs142432676
NM_015192.4(PLCB1):c.3449A>G (p.Tyr1150Cys) rs1265159999
NM_015192.4(PLCB1):c.3487G>C (p.Glu1163Gln)
NM_015192.4(PLCB1):c.348T>A (p.His116Gln) rs965963245
NM_015192.4(PLCB1):c.3507G>A (p.Met1169Ile) rs2146337606
NM_015192.4(PLCB1):c.3525A>C (p.Glu1175Asp) rs1455824326
NM_015192.4(PLCB1):c.3532A>T (p.Asn1178Tyr)
NM_015192.4(PLCB1):c.3545C>T (p.Ala1182Val) rs1028186212
NM_015192.4(PLCB1):c.3553T>C (p.Ser1185Pro) rs1988000094
NM_015192.4(PLCB1):c.3559_3563del (p.Ser1187fs) rs2146337709
NM_015192.4(PLCB1):c.3566A>G (p.Asp1189Gly)
NM_015192.4(PLCB1):c.3589A>G (p.Thr1197Ala) rs199568969
NM_015192.4(PLCB1):c.3619A>G (p.Ile1207Val) rs754119167
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.368AAG[2] (p.Glu125del) rs766595102
NM_015192.4(PLCB1):c.369A>C (p.Gln123His) rs755560918
NM_015192.4(PLCB1):c.384+3A>G
NM_015192.4(PLCB1):c.400G>A (p.Val134Ile) rs1199339071
NM_015192.4(PLCB1):c.406A>T (p.Ser136Cys)
NM_015192.4(PLCB1):c.413C>T (p.Ala138Val) rs2123285821
NM_015192.4(PLCB1):c.425T>C (p.Leu142Pro) rs2123285875
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
NM_015192.4(PLCB1):c.438G>A (p.Met146Ile) rs1989165148
NM_015192.4(PLCB1):c.446A>T (p.Asp149Val) rs2123285994
NM_015192.4(PLCB1):c.465C>T (p.Ala155=)
NM_015192.4(PLCB1):c.469A>G (p.Thr157Ala) rs2123290762
NM_015192.4(PLCB1):c.480G>T (p.Lys160Asn)
NM_015192.4(PLCB1):c.509C>T (p.Pro170Leu) rs1989211414
NM_015192.4(PLCB1):c.520A>G (p.Ile174Val) rs748138827
NM_015192.4(PLCB1):c.568G>A (p.Glu190Lys) rs2123295095
NM_015192.4(PLCB1):c.598G>A (p.Asp200Asn) rs2123318774
NM_015192.4(PLCB1):c.611A>T (p.Gln204Leu) rs1989486420
NM_015192.4(PLCB1):c.612A>T (p.Gln204His) rs1989486497
NM_015192.4(PLCB1):c.619T>A (p.Phe207Ile) rs1358940714
NM_015192.4(PLCB1):c.62G>A (p.Ser21Asn) rs2122992000
NM_015192.4(PLCB1):c.650A>G (p.Asn217Ser)
NM_015192.4(PLCB1):c.654C>A (p.Asn218Lys)
NM_015192.4(PLCB1):c.664C>G (p.Arg222Gly) rs990536521
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln) rs755135706
NM_015192.4(PLCB1):c.673A>C (p.Ile225Leu) rs1989488581
NM_015192.4(PLCB1):c.682A>G (p.Ile228Val) rs1600230250
NM_015192.4(PLCB1):c.695+6_695+7del rs749649429
NM_015192.4(PLCB1):c.737T>C (p.Met246Thr)
NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867
NM_015192.4(PLCB1):c.778G>C (p.Glu260Gln) rs2123322675
NM_015192.4(PLCB1):c.781A>G (p.Ile261Val) rs1568549591
NM_015192.4(PLCB1):c.801A>G (p.Lys267=) rs1568549600
NM_015192.4(PLCB1):c.803A>G (p.Gln268Arg) rs1989533526
NM_015192.4(PLCB1):c.806A>G (p.Glu269Gly) rs1989533771
NM_015192.4(PLCB1):c.807G>T (p.Glu269Asp) rs1222914240
NM_015192.4(PLCB1):c.857G>A (p.Arg286Lys) rs1420410909
NM_015192.4(PLCB1):c.863-7C>G rs1990322418
NM_015192.4(PLCB1):c.875T>C (p.Val292Ala) rs370605921
NM_015192.4(PLCB1):c.890G>T (p.Arg297Leu)
NM_015192.4(PLCB1):c.89A>G (p.Lys30Arg) rs772081862
NM_015192.4(PLCB1):c.900T>G (p.Ser300Arg)
NM_015192.4(PLCB1):c.902G>C (p.Gly301Ala) rs2123399482
NM_015192.4(PLCB1):c.928G>A (p.Glu310Lys)
NM_015192.4(PLCB1):c.995A>G (p.Asn332Ser)
NM_016373.4(WWOX):c.*187_*190dup rs1597489135
NM_016373.4(WWOX):c.1003T>A (p.Trp335Arg)
NM_016373.4(WWOX):c.1015A>C (p.Thr339Pro) rs1429449710
NM_016373.4(WWOX):c.1016C>T (p.Thr339Ile)
NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys) rs766309882
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala) rs200699154
NM_016373.4(WWOX):c.1048A>G (p.Lys350Glu) rs2151386361
NM_016373.4(WWOX):c.1051T>C (p.Ser351Pro) rs1266850996
NM_016373.4(WWOX):c.1052C>T (p.Ser351Phe)
NM_016373.4(WWOX):c.1055T>C (p.Met352Thr)
NM_016373.4(WWOX):c.1057-2A>G rs1233583078
NM_016373.4(WWOX):c.1057-3C>T rs143302415
NM_016373.4(WWOX):c.1059A>C (p.Gln353His)
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro) rs1567624901
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser) rs1555547940
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile) rs1555547940
NM_016373.4(WWOX):c.107A>T (p.Asn36Ile) rs1316489119
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg) rs2051754918
NM_016373.4(WWOX):c.109C>G (p.His37Asp) rs770653451
NM_016373.4(WWOX):c.10C>G (p.Leu4Val) rs751733610
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp) rs780816542
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu) rs1064793798
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg) rs1400576596
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val) rs769877812
NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys) rs377129275
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys) rs2051758116
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys) rs201088847
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser) rs200461412
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro) rs202002431
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu) rs202002431
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr) rs1567625134
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg) rs2051759512
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu) rs1351213477
NM_016373.4(WWOX):c.115GAG[1] (p.Glu40del) rs1301923654
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro) rs1060502729
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) rs1484856529
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys) rs375757102
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln) rs375757102
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val) rs1287638259
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp) rs763482100
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs) rs1064792969
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr) rs767286260
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly) rs750042007
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys) rs200839945
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln) rs200839945
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu) rs1197462916
NM_016373.4(WWOX):c.1218A>C (p.Gln406His) rs767985798
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser)
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly) rs144234059
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu) rs765857107
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del) rs770788315
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys) rs117065412
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del) rs2051765287
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser) rs2150868322
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)
NM_016373.4(WWOX):c.128A>G (p.Gln43Arg) rs754384834
NM_016373.4(WWOX):c.146C>G (p.Thr49Ser)
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg) rs2032292763
NM_016373.4(WWOX):c.15C>G (p.Arg5=) rs2031625331
NM_016373.4(WWOX):c.164T>G (p.Val55Gly) rs775944673
NM_016373.4(WWOX):c.173A>G (p.Asp58Gly) rs2032380473
NM_016373.4(WWOX):c.184G>C (p.Gly62Arg) rs775696083
NM_016373.4(WWOX):c.200C>G (p.Thr67Ser) rs752003995
NM_016373.4(WWOX):c.202G>T (p.Asp68Tyr) rs2032382985
NM_016373.4(WWOX):c.203A>G (p.Asp68Gly) rs1567575033
NM_016373.4(WWOX):c.230+3A>T rs746149234
NM_016373.4(WWOX):c.230+6T>C
NM_016373.4(WWOX):c.230A>G (p.Asp77Gly) rs2032385595
NM_016373.4(WWOX):c.231-5G>A
NM_016373.4(WWOX):c.233A>G (p.His78Arg) rs375002918
NM_016373.4(WWOX):c.248C>T (p.Thr83Ile) rs751493396
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp) rs781063964
NM_016373.4(WWOX):c.261C>G (p.Asp87Glu) rs368902462
NM_016373.4(WWOX):c.262C>A (p.Pro88Thr)
NM_016373.4(WWOX):c.263C>G (p.Pro88Arg) rs200371768
NM_016373.4(WWOX):c.266G>A (p.Arg89Lys) rs2151674621
NM_016373.4(WWOX):c.272C>T (p.Ala91Val)
NM_016373.4(WWOX):c.287A>T (p.Asp96Val) rs776969977
NM_016373.4(WWOX):c.301C>T (p.Pro101Ser) rs574637594
NM_016373.4(WWOX):c.305C>T (p.Thr102Ile) rs2032705453
NM_016373.4(WWOX):c.310C>T (p.Arg104Trp) rs750226191
NM_016373.4(WWOX):c.319T>G (p.Tyr107Asp) rs2151674746
NM_016373.4(WWOX):c.324C>A (p.Asp108Glu) rs377442022
NM_016373.4(WWOX):c.32A>T (p.Asp11Val) rs1597189624
NM_016373.4(WWOX):c.332C>T (p.Thr111Ile) rs114755364
NM_016373.4(WWOX):c.340A>G (p.Met114Val) rs1402250109
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.349C>A (p.Leu117Ile) rs1397160477
NM_016373.4(WWOX):c.353A>G (p.Gln118Arg) rs752982374
NM_016373.4(WWOX):c.359G>A (p.Arg120Gln) rs1355355411
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_016373.4(WWOX):c.362A>G (p.Asp121Gly) rs576113059
NM_016373.4(WWOX):c.368C>T (p.Thr123Ile) rs2151674876
NM_016373.4(WWOX):c.374A>G (p.Lys125Arg)
NM_016373.4(WWOX):c.376G>C (p.Val126Leu) rs2151674893
NM_016373.4(WWOX):c.389C>G (p.Thr130Ser)
NM_016373.4(WWOX):c.391G>A (p.Gly131Arg) rs2151674915
NM_016373.4(WWOX):c.397A>T (p.Asn133Tyr)
NM_016373.4(WWOX):c.408A>G (p.Ile136Met)
NM_016373.4(WWOX):c.409+4G>A rs2032715333
NM_016373.4(WWOX):c.409+6C>T
NM_016373.4(WWOX):c.410-6C>G rs1488901499
NM_016373.4(WWOX):c.410G>C (p.Gly137Ala) rs761879076
NM_016373.4(WWOX):c.415G>C (p.Glu139Gln) rs764089824
NM_016373.4(WWOX):c.422C>T (p.Ala141Val) rs990349398
NM_016373.4(WWOX):c.440A>C (p.His147Pro) rs188859796
NM_016373.4(WWOX):c.446C>G (p.Ala149Gly) rs1024835941
NM_016373.4(WWOX):c.446C>T (p.Ala149Val) rs1024835941
NM_016373.4(WWOX):c.449A>T (p.His150Leu)
NM_016373.4(WWOX):c.454A>G (p.Ile152Val) rs961514796
NM_016373.4(WWOX):c.45G>T (p.Glu15Asp) rs770319919
NM_016373.4(WWOX):c.490G>A (p.Ala164Thr) rs2034896161
NM_016373.4(WWOX):c.513A>G (p.Glu171=) rs1060502728
NM_016373.4(WWOX):c.516+6_516+7inv
NM_016373.4(WWOX):c.520A>G (p.Lys174Glu) rs766451936
NM_016373.4(WWOX):c.52C>A (p.Leu18Met) rs776553279
NM_016373.4(WWOX):c.52C>G (p.Leu18Val) rs776553279
NM_016373.4(WWOX):c.530T>C (p.Val177Ala) rs2151934103
NM_016373.4(WWOX):c.545T>C (p.Leu182Pro) rs2082072058
NM_016373.4(WWOX):c.550C>T (p.Leu184Phe) rs753965511
NM_016373.4(WWOX):c.554C>T (p.Ala185Val)
NM_016373.4(WWOX):c.556C>G (p.Leu186Val) rs772539448
NM_016373.4(WWOX):c.560T>A (p.Leu187His) rs2151934150
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_016373.4(WWOX):c.568G>C (p.Val190Leu)
NM_016373.4(WWOX):c.568G>T (p.Val190Leu) rs769400934
NM_016373.4(WWOX):c.584A>C (p.Glu195Ala) rs2151934166
NM_016373.4(WWOX):c.587C>T (p.Ala196Val) rs754102799
NM_016373.4(WWOX):c.592A>G (p.Lys198Glu) rs1199254958
NM_016373.4(WWOX):c.596C>G (p.Ala199Gly) rs890212192
NM_016373.4(WWOX):c.59C>G (p.Pro20Arg) rs761638116
NM_016373.4(WWOX):c.604G>A (p.Val202Met)
NM_016373.4(WWOX):c.605+6_605+18del rs775621555
NM_016373.4(WWOX):c.606G>C (p.Val202=) rs1232120355
NM_016373.4(WWOX):c.610C>A (p.Leu204Ile) rs866341813
NM_016373.4(WWOX):c.614A>G (p.His205Arg) rs770649734
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser) rs767929766
NM_016373.4(WWOX):c.638C>A (p.Thr213Asn) rs753602303
NM_016373.4(WWOX):c.640T>G (p.Phe214Val)
NM_016373.4(WWOX):c.641T>A (p.Phe214Tyr) rs1474238209
NM_016373.4(WWOX):c.650C>G (p.Pro217Arg) rs777579075
NM_016373.4(WWOX):c.650C>T (p.Pro217Leu)
NM_016373.4(WWOX):c.658C>T (p.Leu220Phe)
NM_016373.4(WWOX):c.668A>T (p.Asp223Val) rs1392246150
NM_016373.4(WWOX):c.66G>T (p.Trp22Cys) rs1231403909
NM_016373.4(WWOX):c.682A>C (p.Thr228Pro) rs1567565338
NM_016373.4(WWOX):c.683C>G (p.Thr228Ser) rs761250135
NM_016373.4(WWOX):c.683C>T (p.Thr228Ile) rs761250135
NM_016373.4(WWOX):c.688C>G (p.Gln230Glu) rs1057524749
NM_016373.4(WWOX):c.702G>A (p.Leu234=) rs2151959991
NM_016373.4(WWOX):c.711C>A (p.Phe237Leu) rs769589145
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu) rs769589145
NM_016373.4(WWOX):c.736G>A (p.Val246Ile) rs1262275069
NM_016373.4(WWOX):c.745C>A (p.Arg249Ser) rs749277249
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys) rs749277249
NM_016373.4(WWOX):c.757G>T (p.Ala253Ser) rs896783193
NM_016373.4(WWOX):c.758C>G (p.Ala253Gly) rs771068553
NM_016373.4(WWOX):c.761G>A (p.Arg254His)
NM_016373.4(WWOX):c.764T>C (p.Val255Ala)
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe) rs1023419687
NM_016373.4(WWOX):c.767T>C (p.Ile256Thr) rs775895501
NM_016373.4(WWOX):c.779C>T (p.Ser260Leu)
NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del) rs763124571
NM_016373.4(WWOX):c.782A>G (p.Glu261Gly) rs1464495960
NM_016373.4(WWOX):c.790C>G (p.Arg264Gly) rs756762196
NM_016373.4(WWOX):c.791+4G>C
NM_016373.4(WWOX):c.791G>A (p.Arg264Gln)
NM_016373.4(WWOX):c.792A>G (p.Arg264=)
NM_016373.4(WWOX):c.793T>A (p.Phe265Ile) rs2083245410
NM_016373.4(WWOX):c.7G>A (p.Ala3Thr) rs1336300148
NM_016373.4(WWOX):c.7G>T (p.Ala3Ser) rs1336300148
NM_016373.4(WWOX):c.800A>G (p.Asp267Gly)
NM_016373.4(WWOX):c.803T>A (p.Ile268Asn)
NM_016373.4(WWOX):c.827A>C (p.Asp276Ala) rs2083246915
NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)
NM_016373.4(WWOX):c.833G>A (p.Ser278Asn)
NM_016373.4(WWOX):c.838C>G (p.Leu280Val)
NM_016373.4(WWOX):c.842C>T (p.Ser281Phe) rs1567570252
NM_016373.4(WWOX):c.845C>A (p.Pro282Gln)
NM_016373.4(WWOX):c.845C>T (p.Pro282Leu) rs770542796
NM_016373.4(WWOX):c.847A>G (p.Thr283Ala) rs1037290766
NM_016373.4(WWOX):c.847A>T (p.Thr283Ser)
NM_016373.4(WWOX):c.856G>C (p.Asp286His) rs374658336
NM_016373.4(WWOX):c.856G>T (p.Asp286Tyr) rs374658336
NM_016373.4(WWOX):c.869T>C (p.Met290Thr) rs1035627222
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) rs119487098
NM_016373.4(WWOX):c.874G>C (p.Ala292Pro) rs376560613
NM_016373.4(WWOX):c.874G>T (p.Ala292Ser) rs376560613
NM_016373.4(WWOX):c.882C>G (p.Asn294Lys) rs2151386030
NM_016373.4(WWOX):c.884G>C (p.Arg295Thr)
NM_016373.4(WWOX):c.892C>G (p.Leu298Val)
NM_016373.4(WWOX):c.899A>G (p.Asn300Ser) rs1860301714
NM_016373.4(WWOX):c.8C>T (p.Ala3Val) rs1241157001
NM_016373.4(WWOX):c.903C>G (p.Ile301Met) rs758799029
NM_016373.4(WWOX):c.904C>T (p.Leu302Phe) rs757597956
NM_016373.4(WWOX):c.915C>A (p.Asn305Lys) rs201818301
NM_016373.4(WWOX):c.923A>G (p.His308Arg) rs2151386107
NM_016373.4(WWOX):c.924C>G (p.His308Gln) rs774296956
NM_016373.4(WWOX):c.931C>T (p.Leu311Phe) rs1455737775
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe) rs79399971
NM_016373.4(WWOX):c.938C>G (p.Pro313Arg)
NM_016373.4(WWOX):c.941G>C (p.Arg314Pro) rs73572838
NM_016373.4(WWOX):c.943G>A (p.Gly315Arg) rs768172617
NM_016373.4(WWOX):c.943G>C (p.Gly315Arg) rs768172617
NM_016373.4(WWOX):c.943G>T (p.Gly315Trp) rs768172617
NM_016373.4(WWOX):c.94G>A (p.Val32Ile) rs2031635728
NM_016373.4(WWOX):c.961G>C (p.Val321Leu) rs2081146962
NM_016373.4(WWOX):c.965A>G (p.His322Arg) rs878855022
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg) rs1567570468
NM_016373.4(WWOX):c.978G>C (p.Met326Ile) rs748074874
NM_016373.4(WWOX):c.978G>T (p.Met326Ile) rs748074874
NM_016373.4(WWOX):c.980T>G (p.Met327Arg) rs1567570484
NM_016373.4(WWOX):c.993T>G (p.Ile331Met)
NM_016373.4(WWOX):c.994C>G (p.His332Asp)
NM_016373.4(WWOX):c.994C>T (p.His332Tyr) rs923399366
NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)
NM_022080.3(NAPB):c.421-1G>A rs1983849974
NM_139058.3(ARX):c.101G>C (p.Gly34Ala)
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu) rs1556054888
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu) rs1060503040
NM_139058.3(ARX):c.104G>A (p.Arg35Gln)
NM_139058.3(ARX):c.1070C>A (p.Thr357Asn)
NM_139058.3(ARX):c.1073+4T>C rs1460686418
NM_139058.3(ARX):c.1073+5G>A
NM_139058.3(ARX):c.1073+6C>T rs1176939436
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys) rs2147323521
NM_139058.3(ARX):c.107G>A (p.Arg36Lys)
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.1142C>G (p.Ala381Gly)
NM_139058.3(ARX):c.1202C>T (p.Pro401Leu)
NM_139058.3(ARX):c.121A>C (p.Met41Leu) rs2147325425
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln) rs1601946603
NM_139058.3(ARX):c.1240C>G (p.Leu414Val)
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) rs2048682725
NM_139058.3(ARX):c.1261C>G (p.Pro421Ala) rs1417254985
NM_139058.3(ARX):c.1265ACC[1] (p.His423del) rs2147320498
NM_139058.3(ARX):c.1270C>G (p.Pro424Ala) rs2147320496
NM_139058.3(ARX):c.1271C>T (p.Pro424Leu) rs2147320493
NM_139058.3(ARX):c.1273G>A (p.Ala425Thr)
NM_139058.3(ARX):c.1285G>T (p.Ala429Ser)
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del) rs1064794482
NM_139058.3(ARX):c.1298C>T (p.Ala433Val) rs2147320466
NM_139058.3(ARX):c.1299_1313dup (p.Ala440_Phe441insAlaAlaAlaAlaAla)
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup) rs398124508
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup) rs398124508
NM_139058.3(ARX):c.1312G>A (p.Ala438Thr)
NM_139058.3(ARX):c.1315G>A (p.Ala439Thr)
NM_139058.3(ARX):c.1325C>T (p.Pro442Leu)
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly) rs2048682085
NM_139058.3(ARX):c.1337C>T (p.Pro446Leu)
NM_139058.3(ARX):c.1354A>G (p.Ser452Gly)
NM_139058.3(ARX):c.1361C>T (p.Pro454Leu) rs2147320384
NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)
NM_139058.3(ARX):c.1372G>A (p.Ala458Thr)
NM_139058.3(ARX):c.137C>T (p.Ala46Val)
NM_139058.3(ARX):c.1399G>A (p.Gly467Arg)
NM_139058.3(ARX):c.1400G>T (p.Gly467Val) rs587783188
NM_139058.3(ARX):c.1448G>C (p.Arg483Thr)
NM_139058.3(ARX):c.1449-1G>C
NM_139058.3(ARX):c.1449-3C>A rs1295206345
NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu) rs2048670837
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) rs1556046847
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro) rs2147318769
NM_139058.3(ARX):c.1496C>T (p.Ala499Val)
NM_139058.3(ARX):c.1498C>A (p.Leu500Ile) rs2147318762
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs) rs1569393457
NM_139058.3(ARX):c.1522G>A (p.Val508Met) rs2048670414
NM_139058.3(ARX):c.1529G>A (p.Gly510Asp) rs2048670328
NM_139058.3(ARX):c.152C>G (p.Pro51Arg)
NM_139058.3(ARX):c.1541C>G (p.Ser514Trp) rs2048670174
NM_139058.3(ARX):c.1546G>C (p.Ala516Pro) rs747042039
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) rs747042039
NM_139058.3(ARX):c.155C>A (p.Ala52Asp) rs2048723704
NM_139058.3(ARX):c.1568C>T (p.Ala523Val)
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys) rs2048669628
NM_139058.3(ARX):c.158C>G (p.Pro53Arg) rs1329228660
NM_139058.3(ARX):c.1604T>C (p.Leu535Pro)
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.1616C>T (p.Ala539Val) rs2048669327
NM_139058.3(ARX):c.1618A>G (p.Lys540Glu) rs2048669310
NM_139058.3(ARX):c.1621G>T (p.Glu541Ter) rs938274319
NM_139058.3(ARX):c.1670C>G (p.Thr557Arg)
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) rs2048668859
NM_139058.3(ARX):c.169C>T (p.Arg57Cys)
NM_139058.3(ARX):c.179C>T (p.Pro60Leu) rs1335616654
NM_139058.3(ARX):c.188C>T (p.Ala63Val)
NM_139058.3(ARX):c.195A>G (p.Gln65=)
NM_139058.3(ARX):c.196+6G>A
NM_139058.3(ARX):c.197G>C (p.Gly66Ala)
NM_139058.3(ARX):c.19G>A (p.Glu7Lys)
NM_139058.3(ARX):c.213C>A (p.Ser71Arg)
NM_139058.3(ARX):c.220C>G (p.Pro74Ala)
NM_139058.3(ARX):c.225C>G (p.Phe75Leu)
NM_139058.3(ARX):c.227A>G (p.Glu76Gly) rs2147324478
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
NM_139058.3(ARX):c.239A>G (p.His80Arg)
NM_139058.3(ARX):c.250A>C (p.Lys84Gln) rs2048713939
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.268G>C (p.Gly90Arg)
NM_139058.3(ARX):c.274G>C (p.Gly92Arg) rs2048713809
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del) rs1156871090
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del) rs387906492
NM_139058.3(ARX):c.311C>T (p.Ala104Val)
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del) rs1470521514
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del) rs2147324337
NM_139058.3(ARX):c.32C>G (p.Ser11Cys)
NM_139058.3(ARX):c.336_338del (p.Ala115del) rs2048713322
NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala) rs2147324326
NM_139058.3(ARX):c.346A>G (p.Thr116Ala) rs1449728469
NM_139058.3(ARX):c.347C>T (p.Thr116Met)
NM_139058.3(ARX):c.365G>A (p.Arg122His) rs1335963054
NM_139058.3(ARX):c.373G>A (p.Ala125Thr) rs1349449662
NM_139058.3(ARX):c.389C>T (p.Pro130Leu) rs1064795129
NM_139058.3(ARX):c.398C>T (p.Ala133Val) rs1601948689
NM_139058.3(ARX):c.404C>T (p.Pro135Leu) rs1569395563
NM_139058.3(ARX):c.411A>C (p.Glu137Asp) rs1601948681
NM_139058.3(ARX):c.415C>A (p.Pro139Thr) rs2048712673
NM_139058.3(ARX):c.416C>T (p.Pro139Leu)
NM_139058.3(ARX):c.428G>C (p.Gly143Ala) rs2048712574
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del) rs1251374008
NM_139058.3(ARX):c.437C>G (p.Ala146Gly)
NM_139058.3(ARX):c.43G>C (p.Glu15Gln)
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup) rs1460450589
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
NM_139058.3(ARX):c.442G>C (p.Ala148Pro)
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup) rs398124512
NM_139058.3(ARX):c.448G>A (p.Ala150Thr)
NM_139058.3(ARX):c.449C>T (p.Ala150Val) rs2048712353
NM_139058.3(ARX):c.44A>G (p.Glu15Gly)
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.452C>T (p.Ala151Val) rs1439646032
NM_139058.3(ARX):c.454G>A (p.Ala152Thr) rs587783201
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe) rs1569395505
NM_139058.3(ARX):c.509G>A (p.Ser170Asn) rs1556056051
NM_139058.3(ARX):c.516C>T (p.Ser172=) rs2048711722
NM_139058.3(ARX):c.535G>C (p.Gly179Arg) rs2048711615
NM_139058.3(ARX):c.541C>A (p.Pro181Thr) rs2147324074
NM_139058.3(ARX):c.541C>T (p.Pro181Ser)
NM_139058.3(ARX):c.547G>C (p.Val183Leu)
NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup) rs1308129416
NM_139058.3(ARX):c.550C>G (p.Pro184Ala)
NM_139058.3(ARX):c.553C>T (p.Pro185Ser) rs2048711460
NM_139058.3(ARX):c.55A>C (p.Lys19Gln)
NM_139058.3(ARX):c.563C>G (p.Ala188Gly) rs1441240819
NM_139058.3(ARX):c.578G>C (p.Gly193Ala) rs2147324028
NM_139058.3(ARX):c.596C>A (p.Thr199Lys)
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) rs1268774120
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)
NM_139058.3(ARX):c.611G>T (p.Arg204Leu) rs755745002
NM_139058.3(ARX):c.613C>T (p.Leu205Phe) rs797045304
NM_139058.3(ARX):c.619G>T (p.Val207Leu) rs1276718018
NM_139058.3(ARX):c.61C>G (p.Pro21Ala) rs1601949554
NM_139058.3(ARX):c.625G>C (p.Gly209Arg) rs587783203
NM_139058.3(ARX):c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)
NM_139058.3(ARX):c.629G>T (p.Gly210Val) rs752323898
NM_139058.3(ARX):c.632C>G (p.Pro211Arg)
NM_139058.3(ARX):c.635_646del (p.Gly212_Pro215del) rs2147323937
NM_139058.3(ARX):c.641C>A (p.Ala214Asp)
NM_139058.3(ARX):c.644C>A (p.Pro215Gln) rs964935114
NM_139058.3(ARX):c.659G>A (p.Gly220Asp)
NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3]) rs876661147
NM_139058.3(ARX):c.662C>T (p.Thr221Ile) rs1017790646
NM_139058.3(ARX):c.670G>A (p.Glu224Lys)
NM_139058.3(ARX):c.674A>T (p.Asp225Val) rs1057521690
NM_139058.3(ARX):c.678C>G (p.Asp226Glu) rs764730866
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del) rs1556055511
NM_139058.3(ARX):c.713A>T (p.Asp238Val)
NM_139058.3(ARX):c.714C>G (p.Asp238Glu) rs2048710190
NM_139058.3(ARX):c.731T>C (p.Leu244Pro)
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1]) rs1473310605
NM_139058.3(ARX):c.748G>A (p.Glu250Lys)
NM_139058.3(ARX):c.766G>A (p.Ala256Thr) rs769056463
NM_139058.3(ARX):c.766G>C (p.Ala256Pro) rs769056463
NM_139058.3(ARX):c.769C>G (p.Arg257Gly) rs1475419182
NM_139058.3(ARX):c.769C>T (p.Arg257Cys)
NM_139058.3(ARX):c.770G>A (p.Arg257His)
NM_139058.3(ARX):c.771C>T (p.Arg257=) rs1601948418
NM_139058.3(ARX):c.773C>A (p.Ala258Glu) rs759399062
NM_139058.3(ARX):c.787C>T (p.Pro263Ser) rs2147323801
NM_139058.3(ARX):c.808G>A (p.Ala270Thr) rs1057520487
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser) rs2048724116
NM_139058.3(ARX):c.826G>A (p.Ala276Thr)
NM_139058.3(ARX):c.838G>C (p.Ala280Pro)
NM_139058.3(ARX):c.85A>G (p.Ile29Val)
NM_139058.3(ARX):c.86T>C (p.Ile29Thr) rs2147325441
NM_139058.3(ARX):c.87C>G (p.Ile29Met) rs148694386
NM_139058.3(ARX):c.887T>C (p.Leu296Pro)
NM_139058.3(ARX):c.893A>T (p.His298Leu)
NM_139058.3(ARX):c.899A>C (p.Glu300Ala)
NM_139058.3(ARX):c.904G>C (p.Ala302Pro) rs146224124
NM_139058.3(ARX):c.944C>T (p.Ala315Val) rs2048708779
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) rs2048708756
NM_139058.3(ARX):c.988C>T (p.Arg330Cys)
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) rs1900084663
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_152309.3(PIK3AP1):c.1026T>G (p.Phe342Leu) rs2134231522
NM_152309.3(PIK3AP1):c.1031C>T (p.Ala344Val)
NM_152309.3(PIK3AP1):c.1039G>A (p.Gly347Arg) rs1473752688
NM_152309.3(PIK3AP1):c.103C>T (p.Arg35Trp) rs760519047
NM_152309.3(PIK3AP1):c.1060T>A (p.Leu354Met)
NM_152309.3(PIK3AP1):c.1070C>T (p.Thr357Ile) rs754924629
NM_152309.3(PIK3AP1):c.112C>G (p.Arg38Gly)
NM_152309.3(PIK3AP1):c.113G>A (p.Arg38His) rs770855063
NM_152309.3(PIK3AP1):c.1177G>A (p.Glu393Lys)
NM_152309.3(PIK3AP1):c.118del (p.Gln40fs) rs1564991748
NM_152309.3(PIK3AP1):c.1190C>T (p.Thr397Met)
NM_152309.3(PIK3AP1):c.1213A>C (p.Ile405Leu)
NM_152309.3(PIK3AP1):c.1218A>C (p.Lys406Asn) rs1177724670
NM_152309.3(PIK3AP1):c.123G>C (p.Lys41Asn)
NM_152309.3(PIK3AP1):c.1243G>C (p.Ala415Pro) rs191740470
NM_152309.3(PIK3AP1):c.1243G>T (p.Ala415Ser)
NM_152309.3(PIK3AP1):c.1244C>G (p.Ala415Gly) rs1239321656
NM_152309.3(PIK3AP1):c.1252G>A (p.Val418Met) rs562166763
NM_152309.3(PIK3AP1):c.1252G>T (p.Val418Leu)
NM_152309.3(PIK3AP1):c.1301C>T (p.Ser434Leu) rs1329719454
NM_152309.3(PIK3AP1):c.1312G>A (p.Gly438Ser) rs2134228303
NM_152309.3(PIK3AP1):c.1325A>T (p.Asp442Val)
NM_152309.3(PIK3AP1):c.1342G>C (p.Ala448Pro) rs1843446161
NM_152309.3(PIK3AP1):c.1398T>G (p.Ser466Arg)
NM_152309.3(PIK3AP1):c.1414C>T (p.Pro472Ser)
NM_152309.3(PIK3AP1):c.1417G>A (p.Gly473Arg) rs2134208864
NM_152309.3(PIK3AP1):c.1436C>T (p.Ala479Val)
NM_152309.3(PIK3AP1):c.1439C>T (p.Thr480Ile) rs1843182697
NM_152309.3(PIK3AP1):c.143G>A (p.Gly48Asp) rs1249665321
NM_152309.3(PIK3AP1):c.1452G>T (p.Met484Ile) rs2134208820
NM_152309.3(PIK3AP1):c.1456C>T (p.Arg486Cys) rs1308742123
NM_152309.3(PIK3AP1):c.145C>A (p.Pro49Thr) rs773554213
NM_152309.3(PIK3AP1):c.1470A>G (p.Glu490=)
NM_152309.3(PIK3AP1):c.1471+6T>C
NM_152309.3(PIK3AP1):c.1472G>A (p.Gly491Asp)
NM_152309.3(PIK3AP1):c.1489A>G (p.Thr497Ala) rs770212814
NM_152309.3(PIK3AP1):c.1507C>G (p.Gln503Glu)
NM_152309.3(PIK3AP1):c.150G>C (p.Glu50Asp) rs1844416205
NM_152309.3(PIK3AP1):c.1527AGA[1] (p.Glu510del) rs752887348
NM_152309.3(PIK3AP1):c.1528G>A (p.Glu510Lys) rs1843161341
NM_152309.3(PIK3AP1):c.1534G>T (p.Val512Phe) rs2134207401
NM_152309.3(PIK3AP1):c.1543A>G (p.Thr515Ala)
NM_152309.3(PIK3AP1):c.158_160del (p.Phe53del)
NM_152309.3(PIK3AP1):c.163G>T (p.Ala55Ser) rs1844415897
NM_152309.3(PIK3AP1):c.1650C>G (p.Asn550Lys)
NM_152309.3(PIK3AP1):c.1669+10_1669+11delinsTT
NM_152309.3(PIK3AP1):c.1669G>A (p.Val557Ile) rs1843157949
NM_152309.3(PIK3AP1):c.1670-2A>T rs1843115988
NM_152309.3(PIK3AP1):c.1676C>T (p.Ala559Val) rs1843115934
NM_152309.3(PIK3AP1):c.1690G>A (p.Glu564Lys) rs1274478777
NM_152309.3(PIK3AP1):c.1694G>A (p.Arg565Gln)
NM_152309.3(PIK3AP1):c.1703A>T (p.Asn568Ile)
NM_152309.3(PIK3AP1):c.1705T>G (p.Phe569Val)
NM_152309.3(PIK3AP1):c.1727T>A (p.Ile576Asn)
NM_152309.3(PIK3AP1):c.1736G>C (p.Gly579Ala)
NM_152309.3(PIK3AP1):c.1765C>T (p.Pro589Ser)
NM_152309.3(PIK3AP1):c.1793C>T (p.Ala598Val) rs761563569
NM_152309.3(PIK3AP1):c.182T>A (p.Phe61Tyr) rs1295938169
NM_152309.3(PIK3AP1):c.1861A>G (p.Asn621Asp) rs2134201180
NM_152309.3(PIK3AP1):c.1907A>G (p.Gln636Arg) rs2134201107
NM_152309.3(PIK3AP1):c.1915C>T (p.Arg639Ter) rs1843059517
NM_152309.3(PIK3AP1):c.1930C>T (p.Arg644Cys)
NM_152309.3(PIK3AP1):c.1942-3C>T
NM_152309.3(PIK3AP1):c.1966A>T (p.Ser656Cys)
NM_152309.3(PIK3AP1):c.1998dup (p.Ser667fs) rs1589490109
NM_152309.3(PIK3AP1):c.2099A>G (p.Lys700Arg) rs760856517
NM_152309.3(PIK3AP1):c.2103_2104inv (p.Val702Ile)
NM_152309.3(PIK3AP1):c.2108T>C (p.Ile703Thr) rs1554952901
NM_152309.3(PIK3AP1):c.2132G>A (p.Arg711Gln)
NM_152309.3(PIK3AP1):c.2135G>A (p.Gly712Glu) rs1849071480
NM_152309.3(PIK3AP1):c.2177C>G (p.Thr726Arg) rs113976248
NM_152309.3(PIK3AP1):c.2185C>T (p.Arg729Cys) rs745636219
NM_152309.3(PIK3AP1):c.218C>T (p.Ala73Val)
NM_152309.3(PIK3AP1):c.2237A>C (p.Asn746Thr)
NM_152309.3(PIK3AP1):c.2241+6A>G
NM_152309.3(PIK3AP1):c.2272C>T (p.Arg758Cys)
NM_152309.3(PIK3AP1):c.2288C>A (p.Pro763Gln)
NM_152309.3(PIK3AP1):c.2294T>C (p.Val765Ala) rs1164907557
NM_152309.3(PIK3AP1):c.22A>G (p.Arg8Gly) rs1844418715
NM_152309.3(PIK3AP1):c.2305C>A (p.Pro769Thr) rs1554951926
NM_152309.3(PIK3AP1):c.2335G>C (p.Val779Leu)
NM_152309.3(PIK3AP1):c.2339C>T (p.Pro780Leu) rs2134181089
NM_152309.3(PIK3AP1):c.233A>G (p.His78Arg)
NM_152309.3(PIK3AP1):c.2342C>T (p.Pro781Leu)
NM_152309.3(PIK3AP1):c.2360+6A>G rs1848911558
NM_152309.3(PIK3AP1):c.237C>G (p.Phe79Leu) rs1324659918
NM_152309.3(PIK3AP1):c.2387C>A (p.Pro796His) rs746172807
NM_152309.3(PIK3AP1):c.239A>C (p.His80Pro) rs1589550882
NM_152309.3(PIK3AP1):c.26G>A (p.Gly9Glu) rs1381486962
NM_152309.3(PIK3AP1):c.295G>C (p.Val99Leu)
NM_152309.3(PIK3AP1):c.312C>T (p.Gly104=)
NM_152309.3(PIK3AP1):c.313G>A (p.Val105Met)
NM_152309.3(PIK3AP1):c.317G>A (p.Arg106Gln) rs1323743578
NM_152309.3(PIK3AP1):c.319G>A (p.Asp107Asn)
NM_152309.3(PIK3AP1):c.325G>A (p.Glu109Lys)
NM_152309.3(PIK3AP1):c.338A>G (p.Asp113Gly) rs2134291149
NM_152309.3(PIK3AP1):c.359A>G (p.His120Arg) rs762096013
NM_152309.3(PIK3AP1):c.363G>T (p.Trp121Cys)
NM_152309.3(PIK3AP1):c.367G>A (p.Glu123Lys)
NM_152309.3(PIK3AP1):c.381C>A (p.Asp127Glu)
NM_152309.3(PIK3AP1):c.382G>C (p.Asp128His) rs1844410722
NM_152309.3(PIK3AP1):c.442G>T (p.Asp148Tyr)
NM_152309.3(PIK3AP1):c.512C>G (p.Thr171Arg)
NM_152309.3(PIK3AP1):c.514G>C (p.Val172Leu)
NM_152309.3(PIK3AP1):c.514G>T (p.Val172Leu) rs766807797
NM_152309.3(PIK3AP1):c.53C>T (p.Pro18Leu)
NM_152309.3(PIK3AP1):c.553C>T (p.Arg185Cys) rs749289928
NM_152309.3(PIK3AP1):c.562T>C (p.Cys188Arg) rs1843620428
NM_152309.3(PIK3AP1):c.567+5G>T rs2134239266
NM_152309.3(PIK3AP1):c.608A>G (p.Asp203Gly)
NM_152309.3(PIK3AP1):c.616G>T (p.Val206Leu)
NM_152309.3(PIK3AP1):c.646G>A (p.Asp216Asn)
NM_152309.3(PIK3AP1):c.662G>A (p.Arg221Lys)
NM_152309.3(PIK3AP1):c.679G>C (p.Glu227Gln) rs1843557117
NM_152309.3(PIK3AP1):c.685G>A (p.Glu229Lys) rs1264361188
NM_152309.3(PIK3AP1):c.706G>T (p.Ala236Ser) rs1307133908
NM_152309.3(PIK3AP1):c.748T>G (p.Ser250Ala)
NM_152309.3(PIK3AP1):c.758T>C (p.Leu253Ser)
NM_152309.3(PIK3AP1):c.759A>C (p.Leu253Phe)
NM_152309.3(PIK3AP1):c.761T>A (p.Val254Glu)
NM_152309.3(PIK3AP1):c.796A>G (p.Met266Val) rs371873967
NM_152309.3(PIK3AP1):c.807T>G (p.Ile269Met) rs1843537852
NM_152309.3(PIK3AP1):c.808G>A (p.Gly270Arg) rs751076536
NM_152309.3(PIK3AP1):c.814T>G (p.Leu272Val) rs2134234232
NM_152309.3(PIK3AP1):c.826G>A (p.Ala276Thr) rs779642441
NM_152309.3(PIK3AP1):c.829G>A (p.Ala277Thr)
NM_152309.3(PIK3AP1):c.829G>T (p.Ala277Ser) rs182619826
NM_152309.3(PIK3AP1):c.887C>T (p.Thr296Ile) rs1589515449
NM_152309.3(PIK3AP1):c.91T>C (p.Phe31Leu)
NM_152309.3(PIK3AP1):c.921C>A (p.Asn307Lys) rs774301849
NM_152309.3(PIK3AP1):c.980T>C (p.Met327Thr) rs972272839
NM_152309.3(PIK3AP1):c.988+6T>A
NM_173354.5(SIK1):c.1031G>A (p.Arg344Gln) rs778543025
NM_173354.5(SIK1):c.1036A>G (p.Lys346Glu)
NM_173354.5(SIK1):c.1045C>T (p.Arg349Trp)
NM_173354.5(SIK1):c.1051G>T (p.Ala351Ser)
NM_173354.5(SIK1):c.1057T>C (p.Cys353Arg)
NM_173354.5(SIK1):c.1063C>T (p.Arg355Cys) rs765513472
NM_173354.5(SIK1):c.1066C>T (p.Pro356Ser)
NM_173354.5(SIK1):c.1076C>G (p.Ala359Gly) rs748034105
NM_173354.5(SIK1):c.1078A>T (p.Arg360Trp) rs768488074
NM_173354.5(SIK1):c.1084C>T (p.Pro362Ser)
NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu) rs1006861899
NM_173354.5(SIK1):c.1094_1107del (p.Arg365fs)
NM_173354.5(SIK1):c.1097G>A (p.Ser366Asn)
NM_173354.5(SIK1):c.110A>C (p.Asn37Thr)
NM_173354.5(SIK1):c.1115T>G (p.Leu372Trp) rs2146471977
NM_173354.5(SIK1):c.1119+3G>A
NM_173354.5(SIK1):c.1119+6G>A
NM_173354.5(SIK1):c.1119+6G>C rs2081049173
NM_173354.5(SIK1):c.1120G>T (p.Val374Leu)
NM_173354.5(SIK1):c.1133G>T (p.Gly378Val) rs1435775681
NM_173354.5(SIK1):c.1135C>A (p.Leu379Ile) rs2081047896
NM_173354.5(SIK1):c.1139C>A (p.Ser380Tyr) rs1555891146
NM_173354.5(SIK1):c.1139C>G (p.Ser380Cys) rs1555891146
NM_173354.5(SIK1):c.1143C>A (p.Thr381=) rs201261435
NM_173354.5(SIK1):c.1144G>C (p.Asp382His)
NM_173354.5(SIK1):c.114C>A (p.Phe38Leu) rs1359524179
NM_173354.5(SIK1):c.1151T>A (p.Phe384Tyr)
NM_173354.5(SIK1):c.1152C>G (p.Phe384Leu) rs2081047778
NM_173354.5(SIK1):c.1154G>A (p.Arg385Gln) rs545863305
NM_173354.5(SIK1):c.1159G>A (p.Ala387Thr) rs2146471466
NM_173354.5(SIK1):c.1160C>T (p.Ala387Val) rs2146471459
NM_173354.5(SIK1):c.1172C>G (p.Pro391Arg)
NM_173354.5(SIK1):c.1175A>G (p.Gln392Arg)
NM_173354.5(SIK1):c.1189G>A (p.Val397Met)
NM_173354.5(SIK1):c.118G>A (p.Val40Met) rs2081066065
NM_173354.5(SIK1):c.1193A>G (p.Gln398Arg)
NM_173354.5(SIK1):c.1198G>A (p.Val400Ile) rs746671842
NM_173354.5(SIK1):c.1201C>T (p.Leu401Phe) rs2146471356
NM_173354.5(SIK1):c.1208C>G (p.Ala403Gly) rs1601508504
NM_173354.5(SIK1):c.1216G>A (p.Asp406Asn) rs148319941
NM_173354.5(SIK1):c.1218C>G (p.Asp406Glu) rs1333644680
NM_173354.5(SIK1):c.1231A>G (p.Ser411Gly) rs2081047181
NM_173354.5(SIK1):c.1243T>C (p.Trp415Arg) rs2081047079
NM_173354.5(SIK1):c.1257_1258delinsTG (p.Pro420Ala)
NM_173354.5(SIK1):c.1258C>A (p.Pro420Thr)
NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln) rs181611369
NM_173354.5(SIK1):c.1262T>C (p.Val421Ala)
NM_173354.5(SIK1):c.1276_1278del (p.Ser426del) rs1569015196
NM_173354.5(SIK1):c.1280G>C (p.Gly427Ala)
NM_173354.5(SIK1):c.1283T>G (p.Val428Gly) rs2081046255
NM_173354.5(SIK1):c.1298C>A (p.Pro433His)
NM_173354.5(SIK1):c.1304C>G (p.Ser435Cys) rs1485607281
NM_173354.5(SIK1):c.1304C>T (p.Ser435Phe) rs1485607281
NM_173354.5(SIK1):c.1319T>A (p.Leu440Gln)
NM_173354.5(SIK1):c.1330A>G (p.Ile444Val)
NM_173354.5(SIK1):c.1341G>C (p.Glu447Asp)
NM_173354.5(SIK1):c.1342G>A (p.Ala448Thr) rs1432976972
NM_173354.5(SIK1):c.1345A>G (p.Arg449Gly)
NM_173354.5(SIK1):c.134G>A (p.Arg45Gln) rs1400179035
NM_173354.5(SIK1):c.1351G>T (p.Gly451Trp)
NM_173354.5(SIK1):c.136C>G (p.His46Asp)
NM_173354.5(SIK1):c.1373A>G (p.Gln458Arg) rs2081045420
NM_173354.5(SIK1):c.1375G>A (p.Asp459Asn)
NM_173354.5(SIK1):c.1376_1381delinsCCTAGGAG (p.Asp459_Gln461delinsAlaTer) rs2081045356
NM_173354.5(SIK1):c.1393C>T (p.Pro465Ser) rs1569015116
NM_173354.5(SIK1):c.1394C>T (p.Pro465Leu)
NM_173354.5(SIK1):c.13T>A (p.Ser5Thr)
NM_173354.5(SIK1):c.1408C>T (p.Arg470Trp)
NM_173354.5(SIK1):c.140G>T (p.Arg47Leu) rs2081065975
NM_173354.5(SIK1):c.1418C>A (p.Thr473Asn) rs1555891084
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly) rs2081044918
NM_173354.5(SIK1):c.1433C>T (p.Ser478Phe)
NM_173354.5(SIK1):c.1439G>A (p.Arg480His) rs1189551206
NM_173354.5(SIK1):c.1445C>T (p.Ser482Phe)
NM_173354.5(SIK1):c.1450C>A (p.Leu484Ile) rs757191457
NM_173354.5(SIK1):c.1455del (p.Ala486fs)
NM_173354.5(SIK1):c.1461A>G (p.Pro487=)
NM_173354.5(SIK1):c.1462+4A>G
NM_173354.5(SIK1):c.1463-11T>G
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.1463G>T (p.Cys488Phe)
NM_173354.5(SIK1):c.1471G>A (p.Val491Ile) rs140222760
NM_173354.5(SIK1):c.1477C>A (p.Pro493Thr)
NM_173354.5(SIK1):c.1478C>G (p.Pro493Arg)
NM_173354.5(SIK1):c.1481C>T (p.Ser494Phe) rs1569014834
NM_173354.5(SIK1):c.1495C>G (p.Pro499Ala)
NM_173354.5(SIK1):c.14C>T (p.Ser5Leu)
NM_173354.5(SIK1):c.1510A>C (p.Ser504Arg)
NM_173354.5(SIK1):c.1515dup (p.Asp506Ter) rs2081042986
NM_173354.5(SIK1):c.1532_1534del (p.Phe511del) rs766669273
NM_173354.5(SIK1):c.1535C>T (p.Ser512Phe) rs2081042854
NM_173354.5(SIK1):c.1538C>A (p.Ala513Glu) rs200402559
NM_173354.5(SIK1):c.1538C>G (p.Ala513Gly) rs200402559
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) rs200402559
NM_173354.5(SIK1):c.1553C>G (p.Ala518Gly) rs142171557
NM_173354.5(SIK1):c.156+5G>T
NM_173354.5(SIK1):c.1571_1572delinsTC (p.Pro524Leu) rs2081042565
NM_173354.5(SIK1):c.1580A>C (p.Gln527Pro)
NM_173354.5(SIK1):c.158T>C (p.Val53Ala)
NM_173354.5(SIK1):c.1595C>T (p.Ala532Val) rs374747938
NM_173354.5(SIK1):c.1642G>A (p.Ala548Thr) rs761922703
NM_173354.5(SIK1):c.1643C>A (p.Ala548Asp) rs2146469839
NM_173354.5(SIK1):c.1658A>C (p.Gln553Pro)
NM_173354.5(SIK1):c.1661C>T (p.Ala554Val)
NM_173354.5(SIK1):c.1666G>C (p.Gly556Arg)
NM_173354.5(SIK1):c.1667G>A (p.Gly556Glu) rs2081041823
NM_173354.5(SIK1):c.1670G>A (p.Gly557Asp) rs372101645
NM_173354.5(SIK1):c.1679G>A (p.Gly560Glu)
NM_173354.5(SIK1):c.1682C>T (p.Ala561Val) rs1275515594
NM_173354.5(SIK1):c.1688T>C (p.Leu563Pro)
NM_173354.5(SIK1):c.1691T>C (p.Leu564Pro) rs746480237
NM_173354.5(SIK1):c.1693C>T (p.Pro565Ser) rs2081041634
NM_173354.5(SIK1):c.1697_1698delinsCT (p.Val566Ala)
NM_173354.5(SIK1):c.1721C>T (p.Ala574Val)
NM_173354.5(SIK1):c.1728C>G (p.Asp576Glu)
NM_173354.5(SIK1):c.1745-2A>G rs1569014372
NM_173354.5(SIK1):c.1748_1752dup (p.Ala585Ter)
NM_173354.5(SIK1):c.1754C>T (p.Ala585Val) rs2146469041
NM_173354.5(SIK1):c.1759C>T (p.Arg587Trp)
NM_173354.5(SIK1):c.1777A>T (p.Thr593Ser) rs2146469026
NM_173354.5(SIK1):c.1781C>T (p.Thr594Met) rs754963793
NM_173354.5(SIK1):c.1783C>T (p.Arg595Trp) rs372646769
NM_173354.5(SIK1):c.1784G>A (p.Arg595Gln) rs1163252803
NM_173354.5(SIK1):c.1789A>G (p.Lys597Glu)
NM_173354.5(SIK1):c.1793G>C (p.Gly598Ala)
NM_173354.5(SIK1):c.1795T>A (p.Phe599Ile)
NM_173354.5(SIK1):c.1799T>A (p.Leu600Gln)
NM_173354.5(SIK1):c.179A>C (p.Lys60Thr)
NM_173354.5(SIK1):c.1801G>A (p.Gly601Arg)
NM_173354.5(SIK1):c.1805T>C (p.Leu602Pro)
NM_173354.5(SIK1):c.1823T>C (p.Leu608Pro)
NM_173354.5(SIK1):c.1828C>T (p.Arg610Cys) rs773946657
NM_173354.5(SIK1):c.1829G>A (p.Arg610His)
NM_173354.5(SIK1):c.1829G>C (p.Arg610Pro)
NM_173354.5(SIK1):c.1829G>T (p.Arg610Leu) rs770153649
NM_173354.5(SIK1):c.1833G>T (p.Gln611His) rs2081038632
NM_173354.5(SIK1):c.1834G>A (p.Val612Met) rs1322191001
NM_173354.5(SIK1):c.1842G>C (p.Gln614His) rs2146468902
NM_173354.5(SIK1):c.1844_1845delinsTG (p.Ala615Val) rs2146468882
NM_173354.5(SIK1):c.184C>T (p.Arg62Ter)
NM_173354.5(SIK1):c.1852A>G (p.Ser618Gly)
NM_173354.5(SIK1):c.1855C>T (p.Arg619Trp)
NM_173354.5(SIK1):c.185G>T (p.Arg62Leu) rs776866938
NM_173354.5(SIK1):c.1871_1872delinsTT (p.Gly624Val) rs2146468803
NM_173354.5(SIK1):c.1877G>T (p.Ser626Ile) rs2081038153
NM_173354.5(SIK1):c.1885C>T (p.His629Tyr) rs2081038102
NM_173354.5(SIK1):c.1887C>A (p.His629Gln)
NM_173354.5(SIK1):c.1892C>G (p.Pro631Arg)
NM_173354.5(SIK1):c.1892C>T (p.Pro631Leu)
NM_173354.5(SIK1):c.1898A>G (p.Gln633Arg)
NM_173354.5(SIK1):c.1902C>G (p.Ser634Arg)
NM_173354.5(SIK1):c.1904C>G (p.Pro635Arg) rs779904079
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu) rs779904079
NM_173354.5(SIK1):c.190G>A (p.Asp64Asn)
NM_173354.5(SIK1):c.1915G>C (p.Gly639Arg)
NM_173354.5(SIK1):c.1918G>T (p.Gly640Cys)
NM_173354.5(SIK1):c.1921G>A (p.Ala641Thr) rs368632078
NM_173354.5(SIK1):c.1921G>T (p.Ala641Ser) rs368632078
NM_173354.5(SIK1):c.1922C>T (p.Ala641Val)
NM_173354.5(SIK1):c.1933C>T (p.Arg645Trp)
NM_173354.5(SIK1):c.1939G>A (p.Gly647Ser) rs1400394036
NM_173354.5(SIK1):c.1945A>C (p.Ser649Arg)
NM_173354.5(SIK1):c.1967A>G (p.Glu656Gly)
NM_173354.5(SIK1):c.1969C>G (p.Gln657Glu) rs2081037328
NM_173354.5(SIK1):c.1972C>T (p.Gln658Ter)
NM_173354.5(SIK1):c.1976+5G>T rs2146468569
NM_173354.5(SIK1):c.1981C>T (p.Leu661Phe) rs2146468156
NM_173354.5(SIK1):c.1988T>C (p.Leu663Ser) rs1285700273
NM_173354.5(SIK1):c.1989A>C (p.Leu663Phe) rs367955174
NM_173354.5(SIK1):c.1990C>T (p.Gln664Ter)
NM_173354.5(SIK1):c.1991A>G (p.Gln664Arg) rs2146468135
NM_173354.5(SIK1):c.1999C>A (p.Pro667Thr) rs892118949
NM_173354.5(SIK1):c.2000C>T (p.Pro667Leu) rs553014547
NM_173354.5(SIK1):c.2004_2016del (p.Ala670fs) rs2081035616
NM_173354.5(SIK1):c.2014G>C (p.Gly672Arg) rs751934560
NM_173354.5(SIK1):c.2026G>A (p.Ala676Thr)
NM_173354.5(SIK1):c.2036C>T (p.Pro679Leu)
NM_173354.5(SIK1):c.2038G>A (p.Ala680Thr) rs1223738587
NM_173354.5(SIK1):c.2047C>T (p.Pro683Ser) rs1436513514
NM_173354.5(SIK1):c.2052T>A (p.Phe684Leu) rs929370860
NM_173354.5(SIK1):c.2052T>G (p.Phe684Leu) rs929370860
NM_173354.5(SIK1):c.2053G>A (p.Val685Met)
NM_173354.5(SIK1):c.2059G>T (p.Ala687Ser)
NM_173354.5(SIK1):c.2060C>T (p.Ala687Val) rs1303657487
NM_173354.5(SIK1):c.2062C>G (p.Pro688Ala) rs549619122
NM_173354.5(SIK1):c.2062C>T (p.Pro688Ser)
NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser) rs772047499
NM_173354.5(SIK1):c.206del (p.Glu69fs) rs2081064737
NM_173354.5(SIK1):c.2074C>G (p.Pro692Ala) rs1569013982
NM_173354.5(SIK1):c.2083G>C (p.Ala695Pro)
NM_173354.5(SIK1):c.2084C>T (p.Ala695Val) rs2146467891
NM_173354.5(SIK1):c.208A>G (p.Lys70Glu)
NM_173354.5(SIK1):c.2099C>T (p.Thr700Ile)
NM_173354.5(SIK1):c.209A>G (p.Lys70Arg) rs2146476029
NM_173354.5(SIK1):c.2111C>T (p.Ser704Leu) rs1217587469
NM_173354.5(SIK1):c.2117T>A (p.Leu706His)
NM_173354.5(SIK1):c.2123T>C (p.Leu708Pro)
NM_173354.5(SIK1):c.2126T>C (p.Leu709Pro)
NM_173354.5(SIK1):c.2129C>T (p.Pro710Leu)
NM_173354.5(SIK1):c.2132C>G (p.Pro711Arg) rs1601506378
NM_173354.5(SIK1):c.2135C>A (p.Pro712Gln)
NM_173354.5(SIK1):c.2137C>G (p.Leu713Val) rs2146467751
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.2161G>A (p.Val721Met) rs1049188125
NM_173354.5(SIK1):c.2161G>T (p.Val721Leu) rs1049188125
NM_173354.5(SIK1):c.2165C>A (p.Ala722Asp) rs2081034398
NM_173354.5(SIK1):c.2169_2171del (p.Ala725del)
NM_173354.5(SIK1):c.2173G>A (p.Ala725Thr)
NM_173354.5(SIK1):c.2179C>T (p.Leu727Phe) rs2081034279
NM_173354.5(SIK1):c.2189C>T (p.Thr730Ile)
NM_173354.5(SIK1):c.2191C>T (p.His731Tyr) rs1555890879
NM_173354.5(SIK1):c.2195T>G (p.Leu732Arg)
NM_173354.5(SIK1):c.2200A>C (p.Ile734Leu)
NM_173354.5(SIK1):c.2230G>A (p.Val744Met)
NM_173354.5(SIK1):c.2230G>C (p.Val744Leu)
NM_173354.5(SIK1):c.223G>A (p.Val75Ile) rs1041137216
NM_173354.5(SIK1):c.2243G>T (p.Arg748Leu) rs375516507
NM_173354.5(SIK1):c.2255T>C (p.Leu752Pro)
NM_173354.5(SIK1):c.2256_2257delinsAT (p.Ala753Ser) rs1601506211
NM_173354.5(SIK1):c.2258C>G (p.Ala753Gly)
NM_173354.5(SIK1):c.2258C>T (p.Ala753Val) rs1444363139
NM_173354.5(SIK1):c.2263G>C (p.Gly755Arg)
NM_173354.5(SIK1):c.2272C>T (p.Pro758Ser) rs2081033603
NM_173354.5(SIK1):c.2279G>A (p.Gly760Glu)
NM_173354.5(SIK1):c.2302A>G (p.Met768Val)
NM_173354.5(SIK1):c.2320T>C (p.Cys774Arg) rs756377602
NM_173354.5(SIK1):c.2321G>C (p.Cys774Ser) rs2146467405
NM_173354.5(SIK1):c.232A>T (p.Met78Leu) rs1601511650
NM_173354.5(SIK1):c.2336T>A (p.Phe779Tyr)
NM_173354.5(SIK1):c.233T>C (p.Met78Thr) rs1569017480
NM_173354.5(SIK1):c.256A>G (p.Ile86Val)
NM_173354.5(SIK1):c.273+4A>C
NM_173354.5(SIK1):c.273+4A>T rs2146475925
NM_173354.5(SIK1):c.273+6G>C rs1352249378
NM_173354.5(SIK1):c.274-3T>A rs1398334601
NM_173354.5(SIK1):c.288G>C (p.Lys96Asn)
NM_173354.5(SIK1):c.28G>T (p.Asp10Tyr)
NM_173354.5(SIK1):c.2T>C (p.Met1Thr)
NM_173354.5(SIK1):c.31C>T (p.Pro11Ser) rs2146476567
NM_173354.5(SIK1):c.326G>T (p.Gly109Val)
NM_173354.5(SIK1):c.32C>G (p.Pro11Arg) rs1354502264
NM_173354.5(SIK1):c.331A>G (p.Met111Val) rs374251012
NM_173354.5(SIK1):c.338-5_338-3del rs752999879
NM_173354.5(SIK1):c.339T>G (p.Asp113Glu) rs2081057328
NM_173354.5(SIK1):c.353A>T (p.Asn118Ile)
NM_173354.5(SIK1):c.368A>T (p.Glu123Val) rs2081057190
NM_173354.5(SIK1):c.369G>C (p.Glu123Asp) rs2146474202
NM_173354.5(SIK1):c.371A>G (p.Asn124Ser) rs2146474198
NM_173354.5(SIK1):c.372C>A (p.Asn124Lys) rs776158971
NM_173354.5(SIK1):c.372_374dup (p.Asn124_Glu125insAsp) rs2146474183
NM_173354.5(SIK1):c.376G>T (p.Ala126Ser)
NM_173354.5(SIK1):c.386A>C (p.Lys129Thr) rs370702184
NM_173354.5(SIK1):c.38G>A (p.Gly13Asp)
NM_173354.5(SIK1):c.392G>C (p.Trp131Ser)
NM_173354.5(SIK1):c.42G>C (p.Gln14His)
NM_173354.5(SIK1):c.43G>T (p.Gly15Cys)
NM_173354.5(SIK1):c.443G>C (p.Arg148Pro) rs2146474084
NM_173354.5(SIK1):c.445G>A (p.Asp149Asn)
NM_173354.5(SIK1):c.462C>A (p.Asn154Lys)
NM_173354.5(SIK1):c.468G>A (p.Leu156=) rs2081056659
NM_173354.5(SIK1):c.46C>G (p.Gln16Glu) rs1317188418
NM_173354.5(SIK1):c.47A>G (p.Gln16Arg)
NM_173354.5(SIK1):c.499+4C>G
NM_173354.5(SIK1):c.499+4del
NM_173354.5(SIK1):c.49G>T (p.Gly17Cys)
NM_173354.5(SIK1):c.500-2A>G
NM_173354.5(SIK1):c.521A>G (p.Tyr174Cys)
NM_173354.5(SIK1):c.521A>T (p.Tyr174Phe) rs1243837400
NM_173354.5(SIK1):c.524A>C (p.Lys175Thr)
NM_173354.5(SIK1):c.549G>T (p.Trp183Cys) rs748074366
NM_173354.5(SIK1):c.558C>A (p.Ser186Arg)
NM_173354.5(SIK1):c.562C>T (p.Pro188Ser)
NM_173354.5(SIK1):c.563C>G (p.Pro188Arg) rs754959423
NM_173354.5(SIK1):c.580G>A (p.Val194Ile) rs367965361
NM_173354.5(SIK1):c.593A>G (p.Lys198Arg) rs2146473675
NM_173354.5(SIK1):c.599A>G (p.Tyr200Cys) rs1601509903
NM_173354.5(SIK1):c.5T>G (p.Val2Gly) rs749382226
NM_173354.5(SIK1):c.620T>C (p.Ile207Thr) rs1170227622
NM_173354.5(SIK1):c.624+3A>G
NM_173354.5(SIK1):c.624+6A>G rs2146473637
NM_173354.5(SIK1):c.634G>A (p.Val212Met)
NM_173354.5(SIK1):c.646G>A (p.Val216Ile) rs142728625
NM_173354.5(SIK1):c.647T>C (p.Val216Ala)
NM_173354.5(SIK1):c.673G>A (p.Asp225Asn)
NM_173354.5(SIK1):c.673G>C (p.Asp225His) rs768610335
NM_173354.5(SIK1):c.674A>G (p.Asp225Gly)
NM_173354.5(SIK1):c.688C>A (p.Pro230Thr) rs1163763920
NM_173354.5(SIK1):c.692C>A (p.Thr231Lys)
NM_173354.5(SIK1):c.692C>T (p.Thr231Met)
NM_173354.5(SIK1):c.698G>A (p.Arg233Lys) rs2146473283
NM_173354.5(SIK1):c.700C>T (p.Gln234Ter) rs2146473267
NM_173354.5(SIK1):c.709C>G (p.Leu237Val) rs1555891321
NM_173354.5(SIK1):c.70G>C (p.Val24Leu)
NM_173354.5(SIK1):c.710T>C (p.Leu237Pro) rs929465231
NM_173354.5(SIK1):c.73G>A (p.Gly25Ser) rs2146476449
NM_173354.5(SIK1):c.742T>C (p.Ser248Pro)
NM_173354.5(SIK1):c.748G>A (p.Asp250Asn) rs1601509582
NM_173354.5(SIK1):c.749-22_749-14del
NM_173354.5(SIK1):c.749-7T>A rs2146472861
NM_173354.5(SIK1):c.74G>T (p.Gly25Val) rs2146476447
NM_173354.5(SIK1):c.753T>G (p.Cys251Trp)
NM_173354.5(SIK1):c.758G>A (p.Ser253Asn)
NM_173354.5(SIK1):c.767G>A (p.Arg256His)
NM_173354.5(SIK1):c.769C>T (p.Arg257Cys) rs778169446
NM_173354.5(SIK1):c.76T>G (p.Phe26Val) rs2081066253
NM_173354.5(SIK1):c.770G>A (p.Arg257His) rs758756558
NM_173354.5(SIK1):c.779T>C (p.Val260Ala) rs2081052018
NM_173354.5(SIK1):c.796C>T (p.Arg266Cys) rs760635907
NM_173354.5(SIK1):c.800T>C (p.Ile267Thr) rs2081051869
NM_173354.5(SIK1):c.803C>A (p.Thr268Asn) rs1339466208
NM_173354.5(SIK1):c.805A>G (p.Ile269Val) rs767335982
NM_173354.5(SIK1):c.817C>G (p.Arg273Gly) rs768230594
NM_173354.5(SIK1):c.833T>C (p.Met278Thr)
NM_173354.5(SIK1):c.835C>G (p.Arg279Gly) rs778203309
NM_173354.5(SIK1):c.836G>A (p.Arg279Gln)
NM_173354.5(SIK1):c.845C>A (p.Pro282His)
NM_173354.5(SIK1):c.849C>G (p.Cys283Trp) rs528484611
NM_173354.5(SIK1):c.854C>A (p.Pro285Gln) rs567695572
NM_173354.5(SIK1):c.857G>C (p.Gly286Ala)
NM_173354.5(SIK1):c.860C>T (p.Pro287Leu) rs1430685368
NM_173354.5(SIK1):c.862G>A (p.Ala288Thr) rs376891838
NM_173354.5(SIK1):c.866G>C (p.Cys289Ser)
NM_173354.5(SIK1):c.871G>C (p.Ala291Pro) rs201889040
NM_173354.5(SIK1):c.871G>T (p.Ala291Ser)
NM_173354.5(SIK1):c.901C>G (p.Leu301Val)
NM_173354.5(SIK1):c.908A>T (p.Asp303Val)
NM_173354.5(SIK1):c.910T>C (p.Tyr304His) rs373962243
NM_173354.5(SIK1):c.913G>A (p.Asp305Asn) rs144214218
NM_173354.5(SIK1):c.913G>C (p.Asp305His) rs144214218
NM_173354.5(SIK1):c.914A>G (p.Asp305Gly) rs2146472509
NM_173354.5(SIK1):c.923C>T (p.Ala308Val) rs1363272609
NM_173354.5(SIK1):c.953A>C (p.Asp318Ala) rs2081050811
NM_173354.5(SIK1):c.956G>A (p.Arg319Gln) rs766038492
NM_173354.5(SIK1):c.967G>A (p.Val323Met)
NM_173354.5(SIK1):c.988del (p.Ser330fs)
NM_173354.5(SIK1):c.9_11del (p.Ile3del) rs2146476618

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