ClinVar Miner

List of variants studied for Idiopathic generalized epilepsy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1144
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HGVS dbSNP gnomAD frequency
NM_000815.5(GABRD):c.69-19G>A rs2376805 0.81443
NM_000815.5(GABRD):c.330T>C (p.Gly110=) rs2229110 0.66530
NM_018723.4(RBFOX1):c.-64+166491C>A rs7187508 0.62707
NM_001350451.2(RBFOX3):c.622+6A>G rs58352742 0.42513
NM_001350451.2(RBFOX3):c.568+17C>T rs11651975 0.26012
NM_001350451.2(RBFOX3):c.66C>T (p.Tyr22=) rs80198744 0.18638
NM_000815.5(GABRD):c.1060-14C>T rs28431879 0.11669
NM_000815.5(GABRD):c.816C>T (p.Ser272=) rs28408173 0.11662
NM_018723.4(RBFOX1):c.931-19A>G rs2302213 0.10758
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=) rs17143930 0.03708
NM_000815.5(GABRD):c.1104C>T (p.Ala368=) rs28398772 0.02739
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846 0.01721
NM_018723.4(RBFOX1):c.1071+3G>A rs79369633 0.01704
NM_000726.5(CACNB4):c.1116+18T>C rs115324887 0.01581
NM_018723.4(RBFOX1):c.333A>G (p.Glu111=) rs140174146 0.00959
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met) rs116604393 0.00685
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_001350451.2(RBFOX3):c.998+9G>T rs79080598 0.00519
NM_000815.5(GABRD):c.414G>A (p.Thr138=) rs77892827 0.00480
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His) rs113298071 0.00341
NM_001350451.2(RBFOX3):c.360+16C>T rs550827396 0.00312
NM_000815.5(GABRD):c.405C>T (p.His135=) rs61742636 0.00262
NM_001350451.2(RBFOX3):c.321C>T (p.Pro107=) rs150282906 0.00254
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_000815.5(GABRD):c.1002C>T (p.Asn334=) rs41315330 0.00194
NM_000726.5(CACNB4):c.324C>T (p.Asp108=) rs147647355 0.00173
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=) rs145861898 0.00171
NM_001350451.2(RBFOX3):c.623-4G>T rs547643968 0.00164
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) rs145873257 0.00156
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser) rs137880529 0.00137
NM_000815.5(GABRD):c.470+20G>A rs372728395 0.00124
NM_000815.5(GABRD):c.68+18G>A rs952639317 0.00122
NM_001350451.2(RBFOX3):c.63G>A (p.Glu21=) rs565537117 0.00122
NM_000815.5(GABRD):c.1107C>A (p.Gly369=) rs148300882 0.00115
NM_000726.5(CACNB4):c.792T>C (p.Ser264=) rs139448267 0.00110
NM_000815.5(GABRD):c.87C>T (p.Gly29=) rs79685811 0.00109
NM_000815.5(GABRD):c.831C>T (p.Pro277=) rs148120771 0.00107
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001350451.2(RBFOX3):c.39G>A (p.Pro13=) rs940680437 0.00091
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921 0.00080
NM_018723.4(RBFOX1):c.677-5C>T rs147023054 0.00077
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser) rs151214012 0.00070
NM_000815.5(GABRD):c.68+17C>G rs868634453 0.00063
NM_001350451.2(RBFOX3):c.552G>T (p.Gly184=) rs375171072 0.00060
NM_000815.5(GABRD):c.1060-7C>T rs368961588 0.00054
NM_001350451.2(RBFOX3):c.103G>A (p.Gly35Ser) rs375309858 0.00054
NM_000815.5(GABRD):c.577G>A (p.Val193Ile) rs143115257 0.00052
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=) rs143695164 0.00052
NM_018723.4(RBFOX1):c.270+10C>G rs113881725 0.00051
NM_001350451.2(RBFOX3):c.223-18C>T rs181329485 0.00049
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser) rs79386457 0.00048
NM_000815.5(GABRD):c.1060-8T>A rs76809996 0.00045
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042
NM_001350451.2(RBFOX3):c.222+14C>T rs373727615 0.00040
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745 0.00038
NM_001350451.2(RBFOX3):c.960C>T (p.Tyr320=) rs539897924 0.00038
NM_018723.4(RBFOX1):c.264C>T (p.Thr88=) rs202136920 0.00038
NM_000815.5(GABRD):c.102C>T (p.Ser34=) rs140855313 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_001350451.2(RBFOX3):c.245C>T (p.Thr82Met) rs748950439 0.00035
NM_000815.5(GABRD):c.1152G>A (p.Pro384=) rs77557135 0.00034
NM_000815.5(GABRD):c.470+6C>T rs202225187 0.00034
NM_001350451.2(RBFOX3):c.567C>T (p.Asn189=) rs369818738 0.00033
NM_001350451.2(RBFOX3):c.222+15G>A rs371537468 0.00032
NM_001350451.2(RBFOX3):c.271G>A (p.Asp91Asn) rs375940495 0.00032
NM_001350451.2(RBFOX3):c.22G>A (p.Ala8Thr) rs1299842245 0.00030
NM_000815.5(GABRD):c.1113G>A (p.Thr371=) rs755961495 0.00029
NM_001350451.2(RBFOX3):c.548C>T (p.Thr183Met) rs542684395 0.00029
NM_001350451.2(RBFOX3):c.594C>T (p.Gly198=) rs371067982 0.00029
NM_145893.3(RBFOX1):c.11C>G (p.Ser4Cys) rs147306562 0.00029
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=) rs61742359 0.00027
NM_000726.5(CACNB4):c.54C>A (p.Pro18=) rs373222155 0.00026
NM_000815.5(GABRD):c.264G>A (p.Thr88=) rs200593470 0.00026
NM_018723.4(RBFOX1):c.70C>T (p.Pro24Ser) rs148751394 0.00026
NM_000815.5(GABRD):c.177C>T (p.Ile59=) rs779883280 0.00025
NM_001350451.2(RBFOX3):c.1077+17C>T rs752716524 0.00025
NM_018723.4(RBFOX1):c.320C>T (p.Ser107Phe) rs201282652 0.00025
NM_000815.5(GABRD):c.969C>T (p.Ala323=) rs146381127 0.00024
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032 0.00024
NM_018723.4(RBFOX1):c.969T>G (p.Pro323=) rs1416883490 0.00024
NM_018723.4(RBFOX1):c.290C>T (p.Pro97Leu) rs139251660 0.00022
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00021
NM_001350451.2(RBFOX3):c.622+19C>A rs578218089 0.00019
NM_001350451.2(RBFOX3):c.436G>C (p.Glu146Gln) rs1340183543 0.00018
NM_001350451.2(RBFOX3):c.568+13G>T rs200580682 0.00018
NM_145893.3(RBFOX1):c.32C>A (p.Pro11His) rs145351963 0.00018
NM_000815.5(GABRD):c.1344G>A (p.Ala448=) rs144369244 0.00017
NM_000815.5(GABRD):c.555C>T (p.Tyr185=) rs201112862 0.00017
NM_000815.5(GABRD):c.69-17T>G rs546154012 0.00017
NM_000815.5(GABRD):c.492C>T (p.Cys164=) rs367776284 0.00016
NM_000815.5(GABRD):c.691+14G>A rs200682047 0.00016
NM_001350451.2(RBFOX3):c.303A>G (p.Leu101=) rs768508558 0.00016
NM_001350451.2(RBFOX3):c.72G>A (p.Pro24=) rs776796401 0.00016
NM_001350451.2(RBFOX3):c.969C>T (p.Pro323=) rs570994105 0.00016
NM_018723.4(RBFOX1):c.867G>T (p.Pro289=) rs745729142 0.00016
NM_145893.3(RBFOX1):c.57G>A (p.Pro19=) rs147261087 0.00016
NM_000815.5(GABRD):c.318C>T (p.Asn106=) rs149832567 0.00015
NM_000815.5(GABRD):c.68+10C>T rs994082959 0.00015
NM_001350451.2(RBFOX3):c.999-12G>A rs918641407 0.00015
NM_001350451.2(RBFOX3):c.970G>A (p.Ala324Thr) rs112978510 0.00014
NM_018723.4(RBFOX1):c.1023C>G (p.Pro341=) rs143601277 0.00014
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421 0.00013
NM_000815.5(GABRD):c.942C>T (p.Phe314=) rs139676179 0.00013
NM_001350451.2(RBFOX3):c.1029G>A (p.Pro343=) rs373093807 0.00013
NM_145893.3(RBFOX1):c.51T>C (p.Ile17=) rs781023213 0.00013
NM_001350451.2(RBFOX3):c.568+6G>C rs953699995 0.00012
NM_018723.4(RBFOX1):c.979G>A (p.Ala327Thr) rs139929599 0.00012
NM_000815.5(GABRD):c.1314G>A (p.Ala438=) rs138909980 0.00011
NM_000815.5(GABRD):c.444C>T (p.Pro148=) rs373608463 0.00011
NM_000815.5(GABRD):c.730C>T (p.Arg244Trp) rs150097692 0.00011
NM_001350451.2(RBFOX3):c.755+18G>A rs755771324 0.00011
NM_000815.5(GABRD):c.1252C>T (p.Arg418Trp) rs200019257 0.00010
NM_001350451.2(RBFOX3):c.141G>C (p.Leu47=) rs367559413 0.00010
NM_001350451.2(RBFOX3):c.360+11G>A rs377759206 0.00010
NM_001350451.2(RBFOX3):c.603C>T (p.Tyr201=) rs377709616 0.00010
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala) rs149974858 0.00010
NM_018723.4(RBFOX1):c.795C>T (p.Ala265=) rs376576588 0.00010
NM_018723.4(RBFOX1):c.890+17C>T rs1285678739 0.00010
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg) rs773391545 0.00009
NM_000815.5(GABRD):c.1166G>C (p.Gly389Ala) rs372742962 0.00009
NM_000815.5(GABRD):c.1222C>T (p.Arg408Cys) rs200430448 0.00009
NM_000815.5(GABRD):c.153C>T (p.Tyr51=) rs148496176 0.00009
NM_000815.5(GABRD):c.267G>A (p.Val89=) rs377536787 0.00009
NM_001350451.2(RBFOX3):c.343T>C (p.Leu115=) rs779066017 0.00009
NM_001350451.2(RBFOX3):c.945C>T (p.Tyr315=) rs992186015 0.00009
NM_018723.4(RBFOX1):c.643G>C (p.Val215Leu) rs141994899 0.00009
NM_018723.4(RBFOX1):c.708G>A (p.Glu236=) rs368113568 0.00009
NM_018723.4(RBFOX1):c.753T>C (p.Ser251=) rs372725346 0.00009
NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr) rs147525462 0.00009
NM_000726.5(CACNB4):c.186C>T (p.Ser62=) rs371263141 0.00008
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_000815.5(GABRD):c.1005C>T (p.Ala335=) rs370201162 0.00008
NM_000815.5(GABRD):c.668C>T (p.Thr223Met) rs369511458 0.00008
NM_000815.5(GABRD):c.96G>C (p.Val32=) rs773911493 0.00008
NM_018723.4(RBFOX1):c.329C>T (p.Thr110Met) rs200502098 0.00008
NM_018723.4(RBFOX1):c.931-5157G>C rs375075227 0.00008
NM_000815.5(GABRD):c.1350C>T (p.Tyr450=) rs368462032 0.00007
NM_000815.5(GABRD):c.447C>T (p.Asp149=) rs775338230 0.00007
NM_000815.5(GABRD):c.934G>A (p.Val312Ile) rs774201718 0.00007
NM_001350451.2(RBFOX3):c.114G>A (p.Pro38=) rs372250322 0.00007
NM_001350451.2(RBFOX3):c.257C>T (p.Pro86Leu) rs377660420 0.00007
NM_001350451.2(RBFOX3):c.735C>G (p.Pro245=) rs911540420 0.00007
NM_018723.4(RBFOX1):c.757+15G>A rs200892489 0.00007
NM_000726.5(CACNB4):c.620C>T (p.Thr207Met) rs750116399 0.00006
NM_000815.5(GABRD):c.522C>T (p.Asp174=) rs534661864 0.00006
NM_000815.5(GABRD):c.747G>C (p.Val249=) rs199993714 0.00006
NM_001350451.2(RBFOX3):c.33C>A (p.Pro11=) rs530721444 0.00006
NM_001350451.2(RBFOX3):c.999-13C>T rs934108895 0.00006
NM_001350451.2(RBFOX3):c.9G>A (p.Gln3=) rs904015242 0.00006
NM_018723.4(RBFOX1):c.1017C>T (p.Ala339=) rs148909710 0.00006
NM_018723.4(RBFOX1):c.1032C>T (p.His344=) rs534312610 0.00006
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=) rs141919506 0.00006
NM_018723.4(RBFOX1):c.330G>A (p.Thr110=) rs772231726 0.00006
NM_018723.4(RBFOX1):c.615T>C (p.Tyr205=) rs764254377 0.00006
NM_018723.4(RBFOX1):c.996-19A>C rs200846246 0.00006
NM_018723.4(RBFOX1):c.999C>T (p.Tyr333=) rs368442088 0.00006
NM_145893.3(RBFOX1):c.9G>A (p.Ala3=) rs771567004 0.00006
NM_000726.5(CACNB4):c.1107A>G (p.Gln369=) rs201700362 0.00005
NM_000726.5(CACNB4):c.1358G>T (p.Arg453Leu) rs768245741 0.00005
NM_000726.5(CACNB4):c.1418G>A (p.Arg473His) rs368111233 0.00005
NM_000815.5(GABRD):c.105C>T (p.Asn35=) rs113473839 0.00005
NM_000815.5(GABRD):c.690C>T (p.Ser230=) rs146193210 0.00005
NM_000815.5(GABRD):c.822G>A (p.Ala274=) rs769125045 0.00005
NM_001350451.2(RBFOX3):c.1014C>T (p.Tyr338=) rs780661784 0.00005
NM_001350451.2(RBFOX3):c.237G>A (p.Ala79=) rs770647329 0.00005
NM_001350451.2(RBFOX3):c.61G>A (p.Glu21Lys) rs1055293531 0.00005
NM_001350451.2(RBFOX3):c.622+14C>T rs1028999714 0.00005
NM_001350451.2(RBFOX3):c.755+16G>A rs951953480 0.00005
NM_018723.4(RBFOX1):c.28-185047C>T rs371603385 0.00005
NM_018723.4(RBFOX1):c.885C>T (p.Tyr295=) rs774530398 0.00005
NM_000726.5(CACNB4):c.1302+7T>C rs200945311 0.00004
NM_000726.5(CACNB4):c.1553A>G (p.His518Arg) rs377492950 0.00004
NM_000726.5(CACNB4):c.34G>T (p.Ala12Ser) rs958254778 0.00004
NM_000726.5(CACNB4):c.36G>A (p.Ala12=) rs754380009 0.00004
NM_000726.5(CACNB4):c.438T>C (p.Cys146=) rs373311758 0.00004
NM_000815.5(GABRD):c.1059+16C>T rs541562450 0.00004
NM_000815.5(GABRD):c.1059+8C>T rs752030520 0.00004
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp) rs754636335 0.00004
NM_000815.5(GABRD):c.1203G>A (p.Thr401=) rs1348578642 0.00004
NM_000815.5(GABRD):c.1219G>A (p.Ala407Thr) rs143031542 0.00004
NM_000815.5(GABRD):c.1296C>T (p.Arg432=) rs375374936 0.00004
NM_000815.5(GABRD):c.147C>T (p.Ala49=) rs147463074 0.00004
NM_000815.5(GABRD):c.181+20C>T rs753987467 0.00004
NM_000815.5(GABRD):c.384C>T (p.Asn128=) rs767409551 0.00004
NM_000815.5(GABRD):c.408C>T (p.Asp136=) rs201757318 0.00004
NM_000815.5(GABRD):c.470+9G>A rs1045485424 0.00004
NM_000815.5(GABRD):c.471-8C>A rs748813137 0.00004
NM_000815.5(GABRD):c.684C>T (p.Phe228=) rs558718893 0.00004
NM_000815.5(GABRD):c.7G>T (p.Ala3Ser) rs759523853 0.00004
NM_000815.5(GABRD):c.966T>C (p.Phe322=) rs937477150 0.00004
NM_001350451.2(RBFOX3):c.1023C>T (p.Ala341=) rs990728601 0.00004
NM_001350451.2(RBFOX3):c.1053G>A (p.Ala351=) rs1305432887 0.00004
NM_001350451.2(RBFOX3):c.1078-3T>C rs990360044 0.00004
NM_001350451.2(RBFOX3):c.232G>A (p.Glu78Lys) rs1032718998 0.00004
NM_001350451.2(RBFOX3):c.360+12C>T rs901701800 0.00004
NM_001350451.2(RBFOX3):c.361-8C>T rs957289800 0.00004
NM_001350451.2(RBFOX3):c.423G>A (p.Gly141=) rs775993784 0.00004
NM_001350451.2(RBFOX3):c.48C>T (p.Asn16=) rs561710608 0.00004
NM_001350451.2(RBFOX3):c.569-18T>C rs918046686 0.00004
NM_001350451.2(RBFOX3):c.62A>C (p.Glu21Ala) rs1167103679 0.00004
NM_001350451.2(RBFOX3):c.89C>T (p.Thr30Met) rs747394355 0.00004
NM_018723.4(RBFOX1):c.1004G>A (p.Arg335Gln) rs763620262 0.00004
NM_018723.4(RBFOX1):c.1018G>A (p.Asp340Asn) rs1403788049 0.00004
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser) rs201490398 0.00004
NM_018723.4(RBFOX1):c.146C>T (p.Ala49Val) rs767917479 0.00004
NM_018723.4(RBFOX1):c.151G>A (p.Glu51Lys) rs778034989 0.00004
NM_018723.4(RBFOX1):c.220G>C (p.Glu74Gln) rs748804086 0.00004
NM_018723.4(RBFOX1):c.239C>A (p.Thr80Lys) rs371393737 0.00004
NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met) rs373077021 0.00004
NM_018723.4(RBFOX1):c.354G>A (p.Arg118=) rs200053144 0.00004
NM_018723.4(RBFOX1):c.603C>T (p.Thr201=) rs772611871 0.00004
NM_018723.4(RBFOX1):c.789C>T (p.Ala263=) rs577598050 0.00004
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala) rs768195911 0.00004
NM_018723.4(RBFOX1):c.873G>A (p.Pro291=) rs761510301 0.00004
NM_018723.4(RBFOX1):c.886G>A (p.Gly296Ser) rs759654438 0.00004
NM_018723.4(RBFOX1):c.955G>A (p.Ala319Thr) rs199644500 0.00004
NM_145893.3(RBFOX1):c.36T>C (p.Tyr12=) rs767727470 0.00004
NM_145893.3(RBFOX1):c.62C>T (p.Ala21Val) rs375723096 0.00004
NM_000726.5(CACNB4):c.1027C>G (p.Gln343Glu) rs1328517680 0.00003
NM_000726.5(CACNB4):c.1403G>A (p.Arg468Gln) rs1169898698 0.00003
NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter) rs370263335 0.00003
NM_000726.5(CACNB4):c.48C>T (p.His16=) rs766238244 0.00003
NM_000726.5(CACNB4):c.640G>A (p.Asp214Asn) rs767538753 0.00003
NM_000815.5(GABRD):c.1154G>A (p.Gly385Glu) rs753657631 0.00003
NM_000815.5(GABRD):c.1343C>T (p.Ala448Val) rs756592609 0.00003
NM_000815.5(GABRD):c.135C>T (p.Asp45=) rs754323369 0.00003
NM_000815.5(GABRD):c.554-5T>A rs766985428 0.00003
NM_000815.5(GABRD):c.692-18C>T rs554815044 0.00003
NM_000815.5(GABRD):c.780G>C (p.Leu260=) rs369231950 0.00003
NM_000815.5(GABRD):c.847+12C>T rs770968835 0.00003
NM_000815.5(GABRD):c.847+5G>A rs1231232821 0.00003
NM_000815.5(GABRD):c.848-6C>T rs368572778 0.00003
NM_001350451.2(RBFOX3):c.1002C>T (p.Tyr334=) rs972548690 0.00003
NM_001350451.2(RBFOX3):c.1005C>T (p.Gly335=) rs1197865456 0.00003
NM_001350451.2(RBFOX3):c.1056G>A (p.Ala352=) rs1228682560 0.00003
NM_001350451.2(RBFOX3):c.165C>T (p.Pro55=) rs1019002644 0.00003
NM_001350451.2(RBFOX3):c.166G>A (p.Glu56Lys) rs748110754 0.00003
NM_001350451.2(RBFOX3):c.360+10C>T rs1233398072 0.00003
NM_001350451.2(RBFOX3):c.414+13C>T rs780036724 0.00003
NM_001350451.2(RBFOX3):c.549G>A (p.Thr183=) rs369398194 0.00003
NM_001350451.2(RBFOX3):c.699C>T (p.Ala233=) rs758656116 0.00003
NM_001350451.2(RBFOX3):c.903G>A (p.Val301=) rs886670631 0.00003
NM_001350451.2(RBFOX3):c.92A>G (p.Gln31Arg) rs1332700365 0.00003
NM_018723.4(RBFOX1):c.1059C>T (p.Gly353=) rs749751319 0.00003
NM_018723.4(RBFOX1):c.562-12C>T rs771443037 0.00003
NM_018723.4(RBFOX1):c.677-4G>A rs759738790 0.00003
NM_018723.4(RBFOX1):c.831C>T (p.Arg277=) rs765683149 0.00003
NM_018723.4(RBFOX1):c.954C>T (p.Tyr318=) rs182244522 0.00003
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu) rs727504706 0.00003
NM_145893.3(RBFOX1):c.59C>T (p.Ala20Val) rs201242998 0.00003
NM_145893.3(RBFOX1):c.63T>G (p.Ala21=) rs775667685 0.00003
NM_145893.3(RBFOX1):c.64C>G (p.Pro22Ala) rs760925781 0.00003
NM_145893.3(RBFOX1):c.987G>A (p.Leu329=) rs1217033932 0.00003
NM_000726.5(CACNB4):c.1213A>C (p.Thr405Pro) rs536470851 0.00002
NM_000726.5(CACNB4):c.1373C>A (p.Ser458Tyr) rs761712022 0.00002
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000726.5(CACNB4):c.1496C>G (p.Thr499Ser) rs770682557 0.00002
NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser) rs746415223 0.00002
NM_000815.5(GABRD):c.1059+9C>G rs757611508 0.00002
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser) rs759836961 0.00002
NM_000815.5(GABRD):c.181+9C>T rs768389556 0.00002
NM_000815.5(GABRD):c.448G>A (p.Gly150Ser) rs781431062 0.00002
NM_000815.5(GABRD):c.470+15C>A rs766248295 0.00002
NM_000815.5(GABRD):c.93C>T (p.Tyr31=) rs768454474 0.00002
NM_001350451.2(RBFOX3):c.1077+18G>A rs1010660520 0.00002
NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr) rs368372440 0.00002
NM_001350451.2(RBFOX3):c.162C>T (p.His54=) rs966632113 0.00002
NM_001350451.2(RBFOX3):c.204C>T (p.Ala68=) rs998084414 0.00002
NM_001350451.2(RBFOX3):c.240A>G (p.Ala80=) rs1272481386 0.00002
NM_001350451.2(RBFOX3):c.306C>T (p.His102=) rs575797622 0.00002
NM_001350451.2(RBFOX3):c.414+9C>T rs911641608 0.00002
NM_001350451.2(RBFOX3):c.556C>T (p.Pro186Ser) rs372072435 0.00002
NM_001350451.2(RBFOX3):c.568+15C>G rs749459956 0.00002
NM_001350451.2(RBFOX3):c.569-14T>G rs769052612 0.00002
NM_001350451.2(RBFOX3):c.60C>T (p.Ala20=) rs1048996078 0.00002
NM_001350451.2(RBFOX3):c.657C>T (p.Ala219=) rs925521413 0.00002
NM_001350451.2(RBFOX3):c.71C>T (p.Pro24Leu) rs1189505871 0.00002
NM_001350451.2(RBFOX3):c.937-8C>T rs887758601 0.00002
NM_001350451.2(RBFOX3):c.998+13G>A rs765108817 0.00002
NM_018723.4(RBFOX1):c.1000G>A (p.Gly334Arg) rs535313416 0.00002
NM_018723.4(RBFOX1):c.1056C>T (p.Tyr352=) rs372365163 0.00002
NM_018723.4(RBFOX1):c.189A>G (p.Leu63=) rs767972090 0.00002
NM_018723.4(RBFOX1):c.231G>A (p.Pro77=) rs775977215 0.00002
NM_018723.4(RBFOX1):c.270+7G>T rs778547505 0.00002
NM_018723.4(RBFOX1):c.28-13T>C rs200813556 0.00002
NM_018723.4(RBFOX1):c.291G>A (p.Pro97=) rs770163669 0.00002
NM_018723.4(RBFOX1):c.292A>G (p.Thr98Ala) rs769491451 0.00002
NM_018723.4(RBFOX1):c.322G>C (p.Glu108Gln) rs771438834 0.00002
NM_018723.4(RBFOX1):c.387G>C (p.Arg129=) rs148594771 0.00002
NM_018723.4(RBFOX1):c.393G>A (p.Pro131=) rs772109063 0.00002
NM_018723.4(RBFOX1):c.414+20C>A rs762873223 0.00002
NM_018723.4(RBFOX1):c.676+12C>G rs748651106 0.00002
NM_018723.4(RBFOX1):c.792G>A (p.Ala264=) rs745880431 0.00002
NM_018723.4(RBFOX1):c.888C>T (p.Gly296=) rs921443679 0.00002
NM_018723.4(RBFOX1):c.931-9G>C rs200198767 0.00002
NM_018723.4(RBFOX1):c.995+9C>T rs749403774 0.00002
NM_145893.3(RBFOX1):c.84T>G (p.Ile28Met) rs766344856 0.00002
NM_000726.5(CACNB4):c.1021-9T>C rs1291994687 0.00001
NM_000726.5(CACNB4):c.1061G>A (p.Ser354Asn) rs1559868500 0.00001
NM_000726.5(CACNB4):c.1083G>A (p.Leu361=) rs779341851 0.00001
NM_000726.5(CACNB4):c.1272A>G (p.Ser424=) rs767662214 0.00001
NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln) rs751754026 0.00001
NM_000726.5(CACNB4):c.1318C>G (p.His440Asp) rs1553740358 0.00001
NM_000726.5(CACNB4):c.1417C>T (p.Arg473Cys) rs755031838 0.00001
NM_000726.5(CACNB4):c.1456C>A (p.Pro486Thr) rs1351243423 0.00001
NM_000726.5(CACNB4):c.1489C>A (p.Gln497Lys) rs1354478341 0.00001
NM_000726.5(CACNB4):c.1500C>T (p.Tyr500=) rs749277227 0.00001
NM_000726.5(CACNB4):c.1536T>C (p.Tyr512=) rs779464772 0.00001
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln) rs760115429 0.00001
NM_000726.5(CACNB4):c.1554T>C (p.His518=) rs766933826 0.00001
NM_000726.5(CACNB4):c.156G>A (p.Ala52=) rs764332480 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000726.5(CACNB4):c.315C>T (p.Gly105=) rs748422887 0.00001
NM_000726.5(CACNB4):c.316G>A (p.Ala106Thr) rs781542443 0.00001
NM_000726.5(CACNB4):c.495A>T (p.Glu165Asp) rs1261256653 0.00001
NM_000726.5(CACNB4):c.503G>A (p.Arg168Lys) rs376364352 0.00001
NM_000726.5(CACNB4):c.621G>A (p.Thr207=) rs778919621 0.00001
NM_000726.5(CACNB4):c.809T>C (p.Val270Ala) rs1578499181 0.00001
NM_000726.5(CACNB4):c.815A>G (p.Asn272Ser) rs752007243 0.00001
NM_000726.5(CACNB4):c.869-5T>G rs796052289 0.00001
NM_000726.5(CACNB4):c.869-8C>A rs756966816 0.00001
NM_000726.5(CACNB4):c.930T>C (p.Val310=) rs748444028 0.00001
NM_000726.5(CACNB4):c.984A>G (p.Ala328=) rs532162701 0.00001
NM_000726.5(CACNB4):c.988A>G (p.Ile330Val) rs751029383 0.00001
NM_000815.5(GABRD):c.1001A>G (p.Asn334Ser) rs764783225 0.00001
NM_000815.5(GABRD):c.1003G>A (p.Ala335Thr) rs758908317 0.00001
NM_000815.5(GABRD):c.1032G>A (p.Lys344=) rs773238325 0.00001
NM_000815.5(GABRD):c.1060A>G (p.Met354Val) rs768220667 0.00001
NM_000815.5(GABRD):c.1100C>T (p.Ala367Val) rs1020129541 0.00001
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile) rs1057519556 0.00001
NM_000815.5(GABRD):c.1151C>T (p.Pro384Leu) rs764066786 0.00001
NM_000815.5(GABRD):c.1161G>A (p.Leu387=) rs757988403 0.00001
NM_000815.5(GABRD):c.1194_1195del (p.Glu400fs) rs1351197180 0.00001
NM_000815.5(GABRD):c.1223G>A (p.Arg408His) rs901937998 0.00001
NM_000815.5(GABRD):c.1229G>T (p.Gly410Val) rs200605909 0.00001
NM_000815.5(GABRD):c.1246C>T (p.Arg416Cys) rs370735082 0.00001
NM_000815.5(GABRD):c.1247G>A (p.Arg416His) rs1011029441 0.00001
NM_000815.5(GABRD):c.1269C>T (p.Asp423=) rs958420807 0.00001
NM_000815.5(GABRD):c.1270G>A (p.Ala424Thr) rs770260377 0.00001
NM_000815.5(GABRD):c.1284C>T (p.Asp428=) rs749606562 0.00001
NM_000815.5(GABRD):c.1323C>T (p.Ala441=) rs140601233 0.00001
NM_000815.5(GABRD):c.1338C>T (p.Tyr446=) rs1274279096 0.00001
NM_000815.5(GABRD):c.136G>A (p.Gly46Arg) rs1658879135 0.00001
NM_000815.5(GABRD):c.14C>G (p.Ala5Gly) rs1207791272 0.00001
NM_000815.5(GABRD):c.15C>T (p.Ala5=) rs1453164730 0.00001
NM_000815.5(GABRD):c.178G>A (p.Gly60Arg) rs749214783 0.00001
NM_000815.5(GABRD):c.222C>T (p.Ser74=) rs778846634 0.00001
NM_000815.5(GABRD):c.244A>G (p.Asn82Asp) rs770620492 0.00001
NM_000815.5(GABRD):c.249+8C>G rs769197624 0.00001
NM_000815.5(GABRD):c.249+8C>T rs769197624 0.00001
NM_000815.5(GABRD):c.263C>T (p.Thr88Met) rs373508468 0.00001
NM_000815.5(GABRD):c.367G>A (p.Asp123Asn) rs1658901832 0.00001
NM_000815.5(GABRD):c.425A>G (p.Lys142Arg) rs1183821856 0.00001
NM_000815.5(GABRD):c.470+7G>A rs533453337 0.00001
NM_000815.5(GABRD):c.553+10T>C rs769597473 0.00001
NM_000815.5(GABRD):c.590C>T (p.Ser197Leu) rs750394202 0.00001
NM_000815.5(GABRD):c.596G>A (p.Ser199Asn) rs779793371 0.00001
NM_000815.5(GABRD):c.612C>T (p.His204=) rs375272573 0.00001
NM_000815.5(GABRD):c.65C>T (p.Thr22Ile) rs1658715532 0.00001
NM_000815.5(GABRD):c.68+5G>C rs1571022283 0.00001
NM_000815.5(GABRD):c.71C>T (p.Ala24Val) rs748341188 0.00001
NM_000815.5(GABRD):c.728T>C (p.Leu243Pro) rs1248355743 0.00001
NM_000815.5(GABRD):c.72G>A (p.Ala24=) rs772327427 0.00001
NM_000815.5(GABRD):c.777C>T (p.Val259=) rs553793272 0.00001
NM_000815.5(GABRD):c.786C>T (p.Val262=) rs1217829506 0.00001
NM_000815.5(GABRD):c.828G>A (p.Val276=) rs1012449006 0.00001
NM_000815.5(GABRD):c.84C>T (p.Ile28=) rs769857211 0.00001
NM_000815.5(GABRD):c.931G>A (p.Asp311Asn) rs1248660340 0.00001
NM_000815.5(GABRD):c.933C>T (p.Asp311=) rs200124298 0.00001
NM_000815.5(GABRD):c.94G>A (p.Val32Met) rs1295769740 0.00001
NM_000815.5(GABRD):c.960C>T (p.Phe320=) rs201101812 0.00001
NM_000815.5(GABRD):c.972C>G (p.Ala324=) rs368765147 0.00001
NM_000815.5(GABRD):c.992C>G (p.Ala331Gly) rs1164930036 0.00001
NM_000815.5(GABRD):c.99C>T (p.Gly33=) rs761436257 0.00001
NM_001350451.2(RBFOX3):c.1028C>T (p.Pro343Leu) rs1208480613 0.00001
NM_001350451.2(RBFOX3):c.1051G>A (p.Ala351Thr) rs1003593947 0.00001
NM_001350451.2(RBFOX3):c.1055C>T (p.Ala352Val) rs1294363374 0.00001
NM_001350451.2(RBFOX3):c.1077+6G>A rs757903881 0.00001
NM_001350451.2(RBFOX3):c.180C>T (p.Ser60=) rs1226722084 0.00001
NM_001350451.2(RBFOX3):c.184G>A (p.Ala62Thr) rs2033670420 0.00001
NM_001350451.2(RBFOX3):c.185C>T (p.Ala62Val) rs1289325621 0.00001
NM_001350451.2(RBFOX3):c.222+11C>T rs2033658024 0.00001
NM_001350451.2(RBFOX3):c.236C>T (p.Ala79Val) rs776016743 0.00001
NM_001350451.2(RBFOX3):c.277A>G (p.Thr93Ala) rs1568139609 0.00001
NM_001350451.2(RBFOX3):c.278C>G (p.Thr93Arg) rs1339077239 0.00001
NM_001350451.2(RBFOX3):c.339C>T (p.Pro113=) rs758551578 0.00001
NM_001350451.2(RBFOX3):c.357C>T (p.Phe119=) rs1207044826 0.00001
NM_001350451.2(RBFOX3):c.415-4A>G rs878854169 0.00001
NM_001350451.2(RBFOX3):c.415-9T>C rs878854170 0.00001
NM_001350451.2(RBFOX3):c.458G>A (p.Arg153Gln) rs566515477 0.00001
NM_001350451.2(RBFOX3):c.568+7G>A rs771129435 0.00001
NM_001350451.2(RBFOX3):c.623-11G>C rs1170040285 0.00001
NM_001350451.2(RBFOX3):c.641C>A (p.Pro214His) rs370372079 0.00001
NM_001350451.2(RBFOX3):c.646A>G (p.Thr216Ala) rs1456815875 0.00001
NM_001350451.2(RBFOX3):c.647C>T (p.Thr216Ile) rs1671568075 0.00001
NM_001350451.2(RBFOX3):c.665A>T (p.Tyr222Phe) rs1568119836 0.00001
NM_001350451.2(RBFOX3):c.673G>A (p.Ala225Thr) rs1479403018 0.00001
NM_001350451.2(RBFOX3):c.688C>T (p.Arg230Trp) rs1170085775 0.00001
NM_001350451.2(RBFOX3):c.700G>A (p.Val234Met) rs921899416 0.00001
NM_001350451.2(RBFOX3):c.709A>G (p.Thr237Ala) rs551476510 0.00001
NM_001350451.2(RBFOX3):c.718G>A (p.Ala240Thr) rs1381383669 0.00001
NM_001350451.2(RBFOX3):c.741C>T (p.Ile247=) rs866943064 0.00001
NM_001350451.2(RBFOX3):c.750C>T (p.Tyr250=) rs1015038952 0.00001
NM_001350451.2(RBFOX3):c.80C>T (p.Pro27Leu) rs368393347 0.00001
NM_001350451.2(RBFOX3):c.912T>C (p.Asp304=) rs1474903517 0.00001
NM_001350451.2(RBFOX3):c.942C>T (p.Gly314=) rs746156238 0.00001
NM_001350451.2(RBFOX3):c.984A>T (p.Ala328=) rs1201055787 0.00001
NM_014592.4(KCNIP1):c.328G>A (p.Asp110Asn) rs1763869544 0.00001
NM_018723.4(RBFOX1):c.1006G>C (p.Val336Leu) rs766496349 0.00001
NM_018723.4(RBFOX1):c.1042C>G (p.Pro348Ala) rs538050088 0.00001
NM_018723.4(RBFOX1):c.1132G>A (p.Val378Ile) rs369122393 0.00001
NM_018723.4(RBFOX1):c.138C>T (p.Pro46=) rs1315127050 0.00001
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu) rs1567632409 0.00001
NM_018723.4(RBFOX1):c.177C>T (p.Pro59=) rs1304807131 0.00001
NM_018723.4(RBFOX1):c.186A>G (p.Thr62=) rs759837636 0.00001
NM_018723.4(RBFOX1):c.191A>T (p.Asn64Ile) rs753108920 0.00001
NM_018723.4(RBFOX1):c.200C>G (p.Pro67Arg) rs1257361531 0.00001
NM_018723.4(RBFOX1):c.212C>A (p.Thr71Lys) rs781081302 0.00001
NM_018723.4(RBFOX1):c.217T>G (p.Ser73Ala) rs769785213 0.00001
NM_018723.4(RBFOX1):c.243C>T (p.Ser81=) rs1268768787 0.00001
NM_018723.4(RBFOX1):c.244G>A (p.Ala82Thr) rs758714800 0.00001
NM_018723.4(RBFOX1):c.271-4T>G rs749852826 0.00001
NM_018723.4(RBFOX1):c.294G>C (p.Thr98=) rs372977736 0.00001
NM_018723.4(RBFOX1):c.303G>A (p.Gln101=) rs750342737 0.00001
NM_018723.4(RBFOX1):c.305C>T (p.Pro102Leu) rs765974335 0.00001
NM_018723.4(RBFOX1):c.360T>C (p.His120=) rs767190235 0.00001
NM_018723.4(RBFOX1):c.415-12A>G rs751611395 0.00001
NM_018723.4(RBFOX1):c.43G>A (p.Ala15Thr) rs1013691536 0.00001
NM_018723.4(RBFOX1):c.469-13C>T rs1378738998 0.00001
NM_018723.4(RBFOX1):c.46G>A (p.Ala16Thr) rs779321097 0.00001
NM_018723.4(RBFOX1):c.500C>T (p.Ala167Val) rs773528139 0.00001
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met) rs372761949 0.00001
NM_018723.4(RBFOX1):c.562-20T>G rs1355901802 0.00001
NM_018723.4(RBFOX1):c.562-5C>T rs751374056 0.00001
NM_018723.4(RBFOX1):c.576A>T (p.Thr192=) rs769265490 0.00001
NM_018723.4(RBFOX1):c.604G>A (p.Val202Ile) rs774774269 0.00001
NM_018723.4(RBFOX1):c.611C>T (p.Pro204Leu) rs1417087822 0.00001
NM_018723.4(RBFOX1):c.676+4C>T rs370887797 0.00001
NM_018723.4(RBFOX1):c.676+6G>C rs781701289 0.00001
NM_018723.4(RBFOX1):c.717C>T (p.Ser239=) rs201549920 0.00001
NM_018723.4(RBFOX1):c.747T>C (p.Tyr249=) rs779034823 0.00001
NM_018723.4(RBFOX1):c.757+14C>T rs776439789 0.00001
NM_018723.4(RBFOX1):c.757+7C>T rs958684686 0.00001
NM_018723.4(RBFOX1):c.771G>A (p.Pro257=) rs916986800 0.00001
NM_018723.4(RBFOX1):c.801C>T (p.Tyr267=) rs747421844 0.00001
NM_018723.4(RBFOX1):c.802C>A (p.Arg268=) rs890155302 0.00001
NM_018723.4(RBFOX1):c.80C>T (p.Ser27Leu) rs527782263 0.00001
NM_018723.4(RBFOX1):c.931-5159T>C rs780351349 0.00001
NM_018723.4(RBFOX1):c.931-5224C>T rs776577408 0.00001
NM_018723.4(RBFOX1):c.931-6T>C rs1352822587 0.00001
NM_018723.4(RBFOX1):c.939T>C (p.Tyr313=) rs1022794718 0.00001
NM_018723.4(RBFOX1):c.943G>A (p.Ala315Thr) rs560607770 0.00001
NM_018723.4(RBFOX1):c.94C>G (p.Pro32Ala) rs1567630819 0.00001
NM_018723.4(RBFOX1):c.98C>A (p.Pro33Gln) rs750747492 0.00001
NM_018723.4(RBFOX1):c.995+19G>C rs200394869 0.00001
NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser) rs757560169 0.00001
NM_145893.3(RBFOX1):c.25C>T (p.Leu9=) rs1347157111 0.00001
NM_145893.3(RBFOX1):c.35A>T (p.Tyr12Phe) rs759616730 0.00001
NM_145893.3(RBFOX1):c.39C>T (p.Gly13=) rs757066841 0.00001
NM_145893.3(RBFOX1):c.55C>T (p.Pro19Ser) rs773668882 0.00001
NM_145893.3(RBFOX1):c.61G>T (p.Ala21Ser) rs1325337150 0.00001
NM_145893.3(RBFOX1):c.74C>T (p.Pro25Leu) rs998828744 0.00001
NM_145893.3(RBFOX1):c.977G>T (p.Gly326Val) rs767345247 0.00001
NM_145893.3(RBFOX1):c.983A>G (p.Lys328Arg) rs1287710352 0.00001
NC_000001.10:g.(?_1249188)_(1961741_?)del
NC_000001.10:g.(?_1724664)_(2338414_?)dup
NC_000001.10:g.(?_1950843)_(1961741_?)dup
NC_000001.11:g.(?_2019404)_(2030302_?)del
NC_000001.11:g.(?_2024922)_(2030302_?)dup
NC_000002.11:g.(?_152466313)_(152698612_?)dup
NC_000002.11:g.(?_152695633)_(152739904_?)del
NC_000002.12:g.(?_151839099)_(151973733_?)del
NC_000016.10:g.(?_7653795)_(7664988_?)del
NC_000016.9:g.(?_7102053)_(7760767_?)dup
NC_000016.9:g.(?_7382983)_(7647453_?)dup
NC_000016.9:g.(?_7383003)_(7568411_?)del
NC_000016.9:g.(?_7383003)_(7680705_?)del
NC_000016.9:g.(?_7383003)_(7680705_?)dup
NC_000016.9:g.(?_7383003)_(7760747_?)dup
NC_000016.9:g.(?_7560981)_(7680705_?)dup
NC_000016.9:g.(?_7568129)_(7760747_?)dup
NC_000016.9:g.(?_7629759)_(7760747_?)del
NC_000016.9:g.(?_7647353)_(7657360_?)del
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) rs2074931493
NM_000726.5(CACNB4):c.1021-7C>T rs2151353341
NM_000726.5(CACNB4):c.1033T>C (p.Leu345=) rs529832815
NM_000726.5(CACNB4):c.1109G>C (p.Cys370Ser) rs1306015107
NM_000726.5(CACNB4):c.1146T>C (p.Asn382=) rs927678994
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=) rs369276166
NM_000726.5(CACNB4):c.1198C>T (p.Arg400Cys) rs1060503174
NM_000726.5(CACNB4):c.1309C>T (p.Arg437Ter) rs529888359
NM_000726.5(CACNB4):c.1445G>A (p.Arg482Gln) rs1277708441
NM_000726.5(CACNB4):c.1467AGA[1] (p.Glu490del) rs764343188
NM_000726.5(CACNB4):c.147+3A>G rs768976112
NM_000726.5(CACNB4):c.1509T>C (p.His503=) rs1060503173
NM_000726.5(CACNB4):c.1514A>G (p.Asn505Ser) rs2099835534
NM_000726.5(CACNB4):c.222A>T (p.Arg74=) rs553682728
NM_000726.5(CACNB4):c.311G>A (p.Cys104Tyr) rs1805031
NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe) rs1367982719
NM_000726.5(CACNB4):c.391-9G>A rs1342246691
NM_000726.5(CACNB4):c.40G>A (p.Gly14Arg) rs573977862
NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg) rs573977862
NM_000726.5(CACNB4):c.45G>A (p.Pro15=) rs536646578
NM_000726.5(CACNB4):c.465C>T (p.Leu155=) rs2151429916
NM_000726.5(CACNB4):c.52C>T (p.Pro18Ser) rs1304319164
NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del) rs1057518634
NM_000726.5(CACNB4):c.582A>T (p.Ala194=) rs776968687
NM_000726.5(CACNB4):c.598+9T>G rs1578558910
NM_000726.5(CACNB4):c.616G>T (p.Val206Leu) rs1260619468
NM_000726.5(CACNB4):c.618+4A>C rs2099844445
NM_000726.5(CACNB4):c.628A>G (p.Ile210Val) rs2099844376
NM_000726.5(CACNB4):c.699+6A>G rs1454032027
NM_000726.5(CACNB4):c.757A>G (p.Arg253Gly) rs2151401327
NM_000726.5(CACNB4):c.770C>T (p.Thr257Met) rs1553749683
NM_000726.5(CACNB4):c.780A>C (p.Thr260=) rs2151376464
NM_000726.5(CACNB4):c.967A>G (p.Ile323Val) rs1559871505
NM_000815.5(GABRD):c.1005C>G (p.Ala335=)
NM_000815.5(GABRD):c.1006G>A (p.Asp336Asn) rs1200416339
NM_000815.5(GABRD):c.1027G>C (p.Ala343Pro) rs749316684
NM_000815.5(GABRD):c.1029C>G (p.Ala343=)
NM_000815.5(GABRD):c.1031A>T (p.Lys344Met) rs1659031445
NM_000815.5(GABRD):c.1035C>G (p.Val345=)
NM_000815.5(GABRD):c.1049C>T (p.Pro350Leu)
NM_000815.5(GABRD):c.104A>G (p.Asn35Ser)
NM_000815.5(GABRD):c.1050G>A (p.Pro350=)
NM_000815.5(GABRD):c.1059+17G>A
NM_000815.5(GABRD):c.1060-13G>A
NM_000815.5(GABRD):c.1060-3C>A
NM_000815.5(GABRD):c.1065C>G (p.Asp355Glu) rs1031482653
NM_000815.5(GABRD):c.1066G>A (p.Val356Met)
NM_000815.5(GABRD):c.1070G>A (p.Arg357Lys)
NM_000815.5(GABRD):c.1074C>T (p.Asn358=)
NM_000815.5(GABRD):c.1089C>G (p.Phe363Leu) rs1359928378
NM_000815.5(GABRD):c.1097_1098del (p.Ser366fs)
NM_000815.5(GABRD):c.1105G>T (p.Gly369Cys) rs759836961
NM_000815.5(GABRD):c.1107C>T (p.Gly369=)
NM_000815.5(GABRD):c.1112C>T (p.Thr371Met)
NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg) rs1659040935
NM_000815.5(GABRD):c.1125C>T (p.Ala375=)
NM_000815.5(GABRD):c.1133G>T (p.Arg378Leu)
NM_000815.5(GABRD):c.1136G>A (p.Arg379Gln) rs369490217
NM_000815.5(GABRD):c.1136G>C (p.Arg379Pro)
NM_000815.5(GABRD):c.1141C>T (p.Arg381Cys) rs773818258
NM_000815.5(GABRD):c.1142G>A (p.Arg381His)
NM_000815.5(GABRD):c.1144C>T (p.Arg382Cys) rs1434291863
NM_000815.5(GABRD):c.1145G>A (p.Arg382His)
NM_000815.5(GABRD):c.1146C>A (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1146C>T (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1147G>A (p.Val383Ile)
NM_000815.5(GABRD):c.1149C>G (p.Val383=)
NM_000815.5(GABRD):c.1160T>A (p.Leu387Gln)
NM_000815.5(GABRD):c.1170C>T (p.Ser390=)
NM_000815.5(GABRD):c.1174A>G (p.Arg392Gly) rs1553123940
NM_000815.5(GABRD):c.1183G>C (p.Gly395Arg) rs763081509
NM_000815.5(GABRD):c.1186G>T (p.Val396Leu)
NM_000815.5(GABRD):c.1194A>C (p.Thr398=)
NM_000815.5(GABRD):c.1195G>A (p.Gly399Arg) rs1571033517
NM_000815.5(GABRD):c.1202C>G (p.Thr401Arg) rs116604393
NM_000815.5(GABRD):c.1214G>T (p.Gly405Val)
NM_000815.5(GABRD):c.1218A>G (p.Ala406=) rs1395046821
NM_000815.5(GABRD):c.1233C>T (p.Gly411=) rs1052967348
NM_000815.5(GABRD):c.1239G>A (p.Gly413=)
NM_000815.5(GABRD):c.1241G>A (p.Gly414Asp)
NM_000815.5(GABRD):c.1245C>T (p.Ile415=)
NM_000815.5(GABRD):c.1247G>C (p.Arg416Pro) rs1011029441
NM_000815.5(GABRD):c.1264A>G (p.Ile422Val)
NM_000815.5(GABRD):c.1273G>A (p.Asp425Asn) rs1380198645
NM_000815.5(GABRD):c.1290C>T (p.Tyr430=)
NM_000815.5(GABRD):c.1294C>G (p.Arg432Gly) rs1002172902
NM_000815.5(GABRD):c.1294C>T (p.Arg432Cys) rs1002172902
NM_000815.5(GABRD):c.1295G>A (p.Arg432His)
NM_000815.5(GABRD):c.1300G>A (p.Val434Met)
NM_000815.5(GABRD):c.1307C>T (p.Pro436Leu)
NM_000815.5(GABRD):c.1310C>T (p.Ala437Val)
NM_000815.5(GABRD):c.1319C>T (p.Ala440Val) rs866487320
NM_000815.5(GABRD):c.1320G>A (p.Ala440=)
NM_000815.5(GABRD):c.1324G>A (p.Val442Ile) rs756881793
NM_000815.5(GABRD):c.1330G>A (p.Val444Ile) rs1659053261
NM_000815.5(GABRD):c.1345G>T (p.Ala449Ser)
NM_000815.5(GABRD):c.137G>A (p.Gly46Glu) rs1441811312
NM_000815.5(GABRD):c.14C>T (p.Ala5Val)
NM_000815.5(GABRD):c.154G>T (p.Ala52Ser)
NM_000815.5(GABRD):c.16C>G (p.Arg6Gly) rs1658714306
NM_000815.5(GABRD):c.173G>A (p.Gly58Asp)
NM_000815.5(GABRD):c.181+10G>C rs774122718
NM_000815.5(GABRD):c.181+13C>A
NM_000815.5(GABRD):c.182-12C>A
NM_000815.5(GABRD):c.182-8C>T rs2102147456
NM_000815.5(GABRD):c.183C>T (p.Gly61=)
NM_000815.5(GABRD):c.186C>A (p.Pro62=)
NM_000815.5(GABRD):c.187C>G (p.Pro63Ala)
NM_000815.5(GABRD):c.189C>A (p.Pro63=) rs771923214
NM_000815.5(GABRD):c.189C>T (p.Pro63=)
NM_000815.5(GABRD):c.195T>A (p.Asn65Lys)
NM_000815.5(GABRD):c.201C>G (p.Ala67=)
NM_000815.5(GABRD):c.202C>A (p.Leu68Ile) rs1658892135
NM_000815.5(GABRD):c.21G>T (p.Leu7=)
NM_000815.5(GABRD):c.225C>T (p.Ile75=)
NM_000815.5(GABRD):c.232A>G (p.Ile78Val)
NM_000815.5(GABRD):c.250-14T>G rs1456692553
NM_000815.5(GABRD):c.250-16T>C
NM_000815.5(GABRD):c.250-1G>A
NM_000815.5(GABRD):c.273G>A (p.Leu91=)
NM_000815.5(GABRD):c.282C>T (p.Ser94=) rs1310692550
NM_000815.5(GABRD):c.294C>T (p.Ser98=)
NM_000815.5(GABRD):c.30G>A (p.Pro10=)
NM_000815.5(GABRD):c.332T>G (p.Leu111Arg) rs2102147878
NM_000815.5(GABRD):c.340C>T (p.Arg114Cys) rs1373382584
NM_000815.5(GABRD):c.345C>T (p.Phe115=)
NM_000815.5(GABRD):c.366C>T (p.Pro122=)
NM_000815.5(GABRD):c.372C>G (p.Thr124=)
NM_000815.5(GABRD):c.379G>A (p.Val127Met) rs562124721
NM_000815.5(GABRD):c.387C>A (p.Ala129=) rs1277746264
NM_000815.5(GABRD):c.389A>C (p.Lys130Thr)
NM_000815.5(GABRD):c.392C>T (p.Ser131Leu) rs201306411
NM_000815.5(GABRD):c.406G>A (p.Asp136Asn) rs1420010820
NM_000815.5(GABRD):c.430_432dup (p.Ile144_Arg145insIle)
NM_000815.5(GABRD):c.444C>G (p.Pro148=)
NM_000815.5(GABRD):c.450C>T (p.Gly150=)
NM_000815.5(GABRD):c.457C>T (p.Leu153=)
NM_000815.5(GABRD):c.459G>A (p.Leu153=) rs1217947626
NM_000815.5(GABRD):c.470+10C>G rs760581006
NM_000815.5(GABRD):c.470+19C>T
NM_000815.5(GABRD):c.477C>T (p.Thr159=)
NM_000815.5(GABRD):c.479C>T (p.Ser160Phe) rs2102150266
NM_000815.5(GABRD):c.483T>C (p.Thr161=)
NM_000815.5(GABRD):c.49C>A (p.Gln17Lys)
NM_000815.5(GABRD):c.523G>A (p.Glu175Lys) rs1658963820
NM_000815.5(GABRD):c.543C>T (p.Asp181=)
NM_000815.5(GABRD):c.553+16A>G
NM_000815.5(GABRD):c.553+20G>A
NM_000815.5(GABRD):c.553+9G>T
NM_000815.5(GABRD):c.554-7C>T rs773941254
NM_000815.5(GABRD):c.556G>A (p.Gly186Ser)
NM_000815.5(GABRD):c.564A>G (p.Ser188=) rs554663245
NM_000815.5(GABRD):c.567G>A (p.Ser189=)
NM_000815.5(GABRD):c.56T>G (p.Leu19Arg)
NM_000815.5(GABRD):c.574A>G (p.Ile192Val) rs766753329
NM_000815.5(GABRD):c.591G>A (p.Ser197=) rs756079485
NM_000815.5(GABRD):c.59G>A (p.Arg20His)
NM_000815.5(GABRD):c.604C>G (p.His202Asp)
NM_000815.5(GABRD):c.60C>G (p.Arg20=) rs1337443605
NM_000815.5(GABRD):c.60C>T (p.Arg20=)
NM_000815.5(GABRD):c.61G>A (p.Gly21Ser) rs1214046618
NM_000815.5(GABRD):c.627G>C (p.Leu209=)
NM_000815.5(GABRD):c.636G>A (p.Ala212=)
NM_000815.5(GABRD):c.638A>G (p.Gln213Arg) rs1557447332
NM_000815.5(GABRD):c.649A>T (p.Thr217Ser) rs1658982650
NM_000815.5(GABRD):c.64A>G (p.Thr22Ala)
NM_000815.5(GABRD):c.651dup (p.Ser218fs) rs2102151065
NM_000815.5(GABRD):c.664A>G (p.Thr222Ala)
NM_000815.5(GABRD):c.669G>A (p.Thr223=) rs763261978
NM_000815.5(GABRD):c.66C>G (p.Thr22=)
NM_000815.5(GABRD):c.67A>G (p.Arg23Gly)
NM_000815.5(GABRD):c.68+20G>A
NM_000815.5(GABRD):c.68+7G>T
NM_000815.5(GABRD):c.69-20C>T
NM_000815.5(GABRD):c.69-6C>A
NM_000815.5(GABRD):c.69-7T>C rs2102146941
NM_000815.5(GABRD):c.691+13C>T rs544531983
NM_000815.5(GABRD):c.691+14_691+57dup rs1252094812
NM_000815.5(GABRD):c.691+19C>A
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGC rs2102151165
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGC rs2102151165
NM_000815.5(GABRD):c.691+28_691+49del
NM_000815.5(GABRD):c.691+28_691+49dup rs769061415
NM_000815.5(GABRD):c.691+57_691+58insGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCC
NM_000815.5(GABRD):c.696C>T (p.Gly232=) rs144046110
NM_000815.5(GABRD):c.718C>T (p.His240Tyr) rs1659011884
NM_000815.5(GABRD):c.720C>T (p.His240=)
NM_000815.5(GABRD):c.731G>A (p.Arg244Gln)
NM_000815.5(GABRD):c.733A>G (p.Arg245Gly)
NM_000815.5(GABRD):c.739C>T (p.Arg247Cys)
NM_000815.5(GABRD):c.744C>G (p.Gly248=) rs760689938
NM_000815.5(GABRD):c.747G>A (p.Val249=) rs199993714
NM_000815.5(GABRD):c.751ATC[1] (p.Ile252del) rs1201664324
NM_000815.5(GABRD):c.758A>T (p.Gln253Leu)
NM_000815.5(GABRD):c.766A>G (p.Met256Val)
NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)
NM_000815.5(GABRD):c.818A>G (p.Gln273Arg)
NM_000815.5(GABRD):c.819G>C (p.Gln273His) rs1659015905
NM_000815.5(GABRD):c.81C>T (p.Asp27=)
NM_000815.5(GABRD):c.821C>T (p.Ala274Val) rs749733672
NM_000815.5(GABRD):c.823G>A (p.Ala275Thr)
NM_000815.5(GABRD):c.825G>A (p.Ala275=)
NM_000815.5(GABRD):c.847+15C>T
NM_000815.5(GABRD):c.847+16G>A
NM_000815.5(GABRD):c.847+4C>T
NM_000815.5(GABRD):c.847+7G>C rs1452430582
NM_000815.5(GABRD):c.848-17C>T
NM_000815.5(GABRD):c.848-19C>T
NM_000815.5(GABRD):c.848-5G>A
NM_000815.5(GABRD):c.848-9G>A rs1659025020
NM_000815.5(GABRD):c.858G>A (p.Thr286=) rs372178849
NM_000815.5(GABRD):c.858G>C (p.Thr286=) rs372178849
NM_000815.5(GABRD):c.867G>A (p.Thr289=) rs150619024
NM_000815.5(GABRD):c.869_871del (p.Met290del)
NM_000815.5(GABRD):c.876G>A (p.Thr292=)
NM_000815.5(GABRD):c.88G>A (p.Asp30Asn) rs74786356
NM_000815.5(GABRD):c.896C>T (p.Ser299Phe)
NM_000815.5(GABRD):c.907C>T (p.Arg303Trp)
NM_000815.5(GABRD):c.909G>A (p.Arg303=) rs2102152967
NM_000815.5(GABRD):c.909G>T (p.Arg303=)
NM_000815.5(GABRD):c.928C>T (p.Leu310=) rs745961044
NM_000815.5(GABRD):c.939C>T (p.Tyr313=)
NM_000815.5(GABRD):c.968C>T (p.Ala323Val)
NM_000815.5(GABRD):c.969C>A (p.Ala323=) rs146381127
NM_000815.5(GABRD):c.985G>A (p.Ala329Thr)
NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr) rs2117129739
NM_001350451.2(RBFOX3):c.1004G>T (p.Gly335Val) rs2146211667
NM_001350451.2(RBFOX3):c.1028C>G (p.Pro343Arg) rs1208480613
NM_001350451.2(RBFOX3):c.1052C>T (p.Ala351Val)
NM_001350451.2(RBFOX3):c.1058C>T (p.Thr353Ile)
NM_001350451.2(RBFOX3):c.1062C>T (p.Tyr354=)
NM_001350451.2(RBFOX3):c.1067T>C (p.Ile356Thr)
NM_001350451.2(RBFOX3):c.1068T>G (p.Ile356Met) rs2074722616
NM_001350451.2(RBFOX3):c.1077+13G>A
NM_001350451.2(RBFOX3):c.1077+16C>T rs2146209619
NM_001350451.2(RBFOX3):c.1077+9C>A rs1451910541
NM_001350451.2(RBFOX3):c.1078-12T>A
NM_001350451.2(RBFOX3):c.110C>A (p.Thr37Asn)
NM_001350451.2(RBFOX3):c.110C>T (p.Thr37Ile)
NM_001350451.2(RBFOX3):c.118C>T (p.Pro40Ser) rs1298625389
NM_001350451.2(RBFOX3):c.121A>C (p.Thr41Pro)
NM_001350451.2(RBFOX3):c.126G>T (p.Glu42Asp) rs1412372562
NM_001350451.2(RBFOX3):c.128A>G (p.His43Arg)
NM_001350451.2(RBFOX3):c.139C>T (p.Leu47=) rs2033680072
NM_001350451.2(RBFOX3):c.145A>G (p.Thr49Ala)
NM_001350451.2(RBFOX3):c.164C>G (p.Pro55Arg) rs2146997386
NM_001350451.2(RBFOX3):c.164C>T (p.Pro55Leu)
NM_001350451.2(RBFOX3):c.201C>T (p.Ile67=) rs2146996449
NM_001350451.2(RBFOX3):c.202G>A (p.Ala68Thr) rs557599713
NM_001350451.2(RBFOX3):c.205G>C (p.Gly69Arg)
NM_001350451.2(RBFOX3):c.20C>T (p.Pro7Leu) rs2033733857
NM_001350451.2(RBFOX3):c.215C>G (p.Thr72Arg) rs1372121041
NM_001350451.2(RBFOX3):c.217G>A (p.Val73Met)
NM_001350451.2(RBFOX3):c.21C>A (p.Pro7=) rs751793355
NM_001350451.2(RBFOX3):c.21C>G (p.Pro7=) rs751793355
NM_001350451.2(RBFOX3):c.21C>T (p.Pro7=) rs751793355
NM_001350451.2(RBFOX3):c.222+13A>G
NM_001350451.2(RBFOX3):c.222+5G>A
NM_001350451.2(RBFOX3):c.222G>A (p.Pro74=) rs1037097785
NM_001350451.2(RBFOX3):c.222G>C (p.Pro74=) rs1037097785
NM_001350451.2(RBFOX3):c.223-17C>T rs761056905
NM_001350451.2(RBFOX3):c.223-9_223-8del
NM_001350451.2(RBFOX3):c.223-9del
NM_001350451.2(RBFOX3):c.254A>C (p.Gln85Pro) rs2146665255
NM_001350451.2(RBFOX3):c.255G>A (p.Gln85=) rs1213853848
NM_001350451.2(RBFOX3):c.258G>A (p.Pro86=)
NM_001350451.2(RBFOX3):c.263A>T (p.His88Leu)
NM_001350451.2(RBFOX3):c.273C>A (p.Asp91Glu) rs1599450000
NM_001350451.2(RBFOX3):c.307G>A (p.Val103Ile) rs1465377886
NM_001350451.2(RBFOX3):c.30C>T (p.Tyr10=) rs1555694660
NM_001350451.2(RBFOX3):c.326G>A (p.Arg109Gln)
NM_001350451.2(RBFOX3):c.33C>G (p.Pro11=) rs530721444
NM_001350451.2(RBFOX3):c.342C>T (p.Asp114=) rs2146662664
NM_001350451.2(RBFOX3):c.35C>T (p.Pro12Leu) rs1403085500
NM_001350451.2(RBFOX3):c.35dup (p.Pro13fs)
NM_001350451.2(RBFOX3):c.360+13G>A
NM_001350451.2(RBFOX3):c.361-10del rs2146564382
NM_001350451.2(RBFOX3):c.361-18_361-17del rs2076947605
NM_001350451.2(RBFOX3):c.361-20C>G
NM_001350451.2(RBFOX3):c.361-8_361-3del
NM_001350451.2(RBFOX3):c.378A>C (p.Leu126Phe)
NM_001350451.2(RBFOX3):c.381C>T (p.Asp127=)
NM_001350451.2(RBFOX3):c.38C>G (p.Pro13Arg) rs1226535060
NM_001350451.2(RBFOX3):c.38C>T (p.Pro13Leu) rs1226535060
NM_001350451.2(RBFOX3):c.399C>T (p.Asn133=)
NM_001350451.2(RBFOX3):c.404G>A (p.Arg135Gln) rs2076940658
NM_001350451.2(RBFOX3):c.414+12A>C
NM_001350451.2(RBFOX3):c.414+14G>A
NM_001350451.2(RBFOX3):c.414+17G>A
NM_001350451.2(RBFOX3):c.414G>C (p.Lys138Asn) rs1568134061
NM_001350451.2(RBFOX3):c.435T>C (p.Phe145=) rs754135050
NM_001350451.2(RBFOX3):c.453T>A (p.Ala151=) rs2146531567
NM_001350451.2(RBFOX3):c.457C>G (p.Arg153Gly)
NM_001350451.2(RBFOX3):c.465G>A (p.Arg155=)
NM_001350451.2(RBFOX3):c.49G>A (p.Gly17Ser)
NM_001350451.2(RBFOX3):c.522G>A (p.Thr174=) rs776142495
NM_001350451.2(RBFOX3):c.542AGA[1] (p.Lys182del) rs1568129070
NM_001350451.2(RBFOX3):c.54C>G (p.Ile18Met) rs2033713868
NM_001350451.2(RBFOX3):c.552G>A (p.Gly184=)
NM_001350451.2(RBFOX3):c.556C>A (p.Pro186Thr) rs372072435
NM_001350451.2(RBFOX3):c.562A>G (p.Thr188Ala)
NM_001350451.2(RBFOX3):c.568+16C>A
NM_001350451.2(RBFOX3):c.568+16_568+17insT
NM_001350451.2(RBFOX3):c.568+18C>T
NM_001350451.2(RBFOX3):c.568+5G>C
NM_001350451.2(RBFOX3):c.568+6G>A
NM_001350451.2(RBFOX3):c.568+8G>T rs2076444289
NM_001350451.2(RBFOX3):c.593G>A (p.Gly198Asp)
NM_001350451.2(RBFOX3):c.602A>G (p.Tyr201Cys)
NM_001350451.2(RBFOX3):c.604G>A (p.Gly202Arg) rs775017222
NM_001350451.2(RBFOX3):c.617A>G (p.Tyr206Cys)
NM_001350451.2(RBFOX3):c.622+14C>A rs1028999714
NM_001350451.2(RBFOX3):c.622+18G>A
NM_001350451.2(RBFOX3):c.622+3dup rs1351338220
NM_001350451.2(RBFOX3):c.623-13C>T
NM_001350451.2(RBFOX3):c.623-17G>A
NM_001350451.2(RBFOX3):c.623-6C>T
NM_001350451.2(RBFOX3):c.623-7C>T rs2075546067
NM_001350451.2(RBFOX3):c.638A>G (p.Tyr213Cys)
NM_001350451.2(RBFOX3):c.645C>T (p.Thr215=) rs1201014995
NM_001350451.2(RBFOX3):c.648C>G (p.Thr216=) rs1222831726
NM_001350451.2(RBFOX3):c.648C>T (p.Thr216=)
NM_001350451.2(RBFOX3):c.657C>A (p.Ala219=) rs925521413
NM_001350451.2(RBFOX3):c.661G>C (p.Ala221Pro) rs2146313081
NM_001350451.2(RBFOX3):c.668G>C (p.Arg223Pro)
NM_001350451.2(RBFOX3):c.676C>A (p.His226Asn) rs2146312862
NM_001350451.2(RBFOX3):c.679C>A (p.Leu227Ile) rs565220696
NM_001350451.2(RBFOX3):c.679C>G (p.Leu227Val)
NM_001350451.2(RBFOX3):c.686GCCGGG[3] (p.Arg232_Ala233insGlyArg)
NM_001350451.2(RBFOX3):c.687C>T (p.Gly229=) rs1227562251
NM_001350451.2(RBFOX3):c.68C>T (p.Ala23Val) rs878854171
NM_001350451.2(RBFOX3):c.696G>C (p.Arg232=) rs1444545956
NM_001350451.2(RBFOX3):c.699C>G (p.Ala233=) rs758656116
NM_001350451.2(RBFOX3):c.714T>G (p.Phe238Leu) rs1599396290
NM_001350451.2(RBFOX3):c.72G>T (p.Pro24=) rs776796401
NM_001350451.2(RBFOX3):c.733C>T (p.Pro245Ser) rs1204664048
NM_001350451.2(RBFOX3):c.738C>A (p.Pro246=)
NM_001350451.2(RBFOX3):c.73C>T (p.Pro25Ser) rs2146999516
NM_001350451.2(RBFOX3):c.743_750dup (p.Gly251fs)
NM_001350451.2(RBFOX3):c.749dup (p.Tyr250Ter)
NM_001350451.2(RBFOX3):c.755+14C>T rs2075511936
NM_001350451.2(RBFOX3):c.755+9C>T
NM_001350451.2(RBFOX3):c.755C>A (p.Ala252Glu)
NM_001350451.2(RBFOX3):c.87C>T (p.Pro29=)
NM_001350451.2(RBFOX3):c.8A>G (p.Gln3Arg)
NM_001350451.2(RBFOX3):c.901G>C (p.Val301Leu)
NM_001350451.2(RBFOX3):c.901G>T (p.Val301Leu)
NM_001350451.2(RBFOX3):c.90G>A (p.Thr30=) rs955676022
NM_001350451.2(RBFOX3):c.90G>T (p.Thr30=) rs955676022
NM_001350451.2(RBFOX3):c.928G>A (p.Glu310Lys) rs2075332971
NM_001350451.2(RBFOX3):c.936+14C>A rs1459023595
NM_001350451.2(RBFOX3):c.936+15G>A rs377444179
NM_001350451.2(RBFOX3):c.936+15G>C
NM_001350451.2(RBFOX3):c.936+17C>T
NM_001350451.2(RBFOX3):c.936+18G>A
NM_001350451.2(RBFOX3):c.936+18G>T rs1196792536
NM_001350451.2(RBFOX3):c.936+2del rs2146289066
NM_001350451.2(RBFOX3):c.937-10T>C rs1599386357
NM_001350451.2(RBFOX3):c.937-17_937-15del
NM_001350451.2(RBFOX3):c.937-19C>T rs2146255373
NM_001350451.2(RBFOX3):c.946G>C (p.Ala316Pro) rs1440844625
NM_001350451.2(RBFOX3):c.949G>A (p.Ala317Thr) rs2146254444
NM_001350451.2(RBFOX3):c.956G>C (p.Arg319Thr) rs2146254285
NM_001350451.2(RBFOX3):c.961G>A (p.Ala321Thr)
NM_001350451.2(RBFOX3):c.977C>T (p.Ala326Val)
NM_001350451.2(RBFOX3):c.978G>A (p.Ala326=) rs780865169
NM_001350451.2(RBFOX3):c.980C>T (p.Ala327Val)
NM_001350451.2(RBFOX3):c.981G>A (p.Ala327=) rs754425963
NM_001350451.2(RBFOX3):c.993C>T (p.Ser331=) rs551189632
NM_001350451.2(RBFOX3):c.998+8C>G rs985551378
NM_001350451.2(RBFOX3):c.998+8C>T rs985551378
NM_001350451.2(RBFOX3):c.998+9G>A rs79080598
NM_001350451.2(RBFOX3):c.999-19C>G
NM_001350451.2(RBFOX3):c.999-20C>G
NM_001350451.2(RBFOX3):c.999-24_999-13dup rs2146212338
NM_001350451.2(RBFOX3):c.999-39_999-15del
NM_001350451.2(RBFOX3):c.999-9C>G rs1311373046
NM_018723.4(RBFOX1):c.1003C>T (p.Arg335Ter) rs1312108862
NM_018723.4(RBFOX1):c.1016C>A (p.Ala339Asp) rs1465514323
NM_018723.4(RBFOX1):c.1016C>T (p.Ala339Val)
NM_018723.4(RBFOX1):c.1033G>A (p.Ala345Thr) rs150941982
NM_018723.4(RBFOX1):c.1033G>C (p.Ala345Pro) rs150941982
NM_018723.4(RBFOX1):c.103A>G (p.Asn35Asp)
NM_018723.4(RBFOX1):c.1040C>T (p.Ala347Val) rs1555812114
NM_018723.4(RBFOX1):c.1042C>A (p.Pro348Thr)
NM_018723.4(RBFOX1):c.1046C>A (p.Ala349Asp) rs2083432188
NM_018723.4(RBFOX1):c.1048C>T (p.Pro350Ser)
NM_018723.4(RBFOX1):c.104A>G (p.Asn35Ser)
NM_018723.4(RBFOX1):c.104_105delinsCG (p.Asn35Thr)
NM_018723.4(RBFOX1):c.1058_1060del (p.Gly353del) rs774848304
NM_018723.4(RBFOX1):c.105C>T (p.Asn35=)
NM_018723.4(RBFOX1):c.1060G>A (p.Val354Ile) rs138704494
NM_018723.4(RBFOX1):c.1060G>C (p.Val354Leu)
NM_018723.4(RBFOX1):c.1060G>T (p.Val354Phe) rs138704494
NM_018723.4(RBFOX1):c.1062T>C (p.Val354=)
NM_018723.4(RBFOX1):c.1071+11G>A rs191016584
NM_018723.4(RBFOX1):c.1071+11G>C rs191016584
NM_018723.4(RBFOX1):c.1071+17C>G
NM_018723.4(RBFOX1):c.1071+18C>G rs751549203
NM_018723.4(RBFOX1):c.1071+5G>T rs1387824991
NM_018723.4(RBFOX1):c.1072-2A>G
NM_018723.4(RBFOX1):c.1084C>T (p.Pro362Ser)
NM_018723.4(RBFOX1):c.1089G>A (p.Leu363=)
NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe) rs776822373
NM_018723.4(RBFOX1):c.109A>G (p.Ile37Val) rs781321986
NM_018723.4(RBFOX1):c.1101G>C (p.Lys367Asn)
NM_018723.4(RBFOX1):c.1146G>A (p.Leu382=) rs756984329
NM_018723.4(RBFOX1):c.114C>A (p.Pro38=) rs376877653
NM_018723.4(RBFOX1):c.114C>G (p.Pro38=) rs376877653
NM_018723.4(RBFOX1):c.1151C>A (p.Ala384Asp)
NM_018723.4(RBFOX1):c.1162C>T (p.Arg388Ter) rs780406377
NM_018723.4(RBFOX1):c.1163G>A (p.Arg388Gln)
NM_018723.4(RBFOX1):c.1194A>G (p.Ter398=) rs2148629483
NM_018723.4(RBFOX1):c.124A>C (p.Thr42Pro)
NM_018723.4(RBFOX1):c.124A>G (p.Thr42Ala)
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg) rs146499343
NM_018723.4(RBFOX1):c.127G>T (p.Ala43Ser)
NM_018723.4(RBFOX1):c.132T>A (p.Pro44=) rs1263847911
NM_018723.4(RBFOX1):c.137C>T (p.Pro46Leu) rs113298071
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg) rs1600686165
NM_018723.4(RBFOX1):c.166A>G (p.Thr56Ala)
NM_018723.4(RBFOX1):c.171G>A (p.Thr57=)
NM_018723.4(RBFOX1):c.182A>C (p.His61Pro) rs1037124321
NM_018723.4(RBFOX1):c.185C>T (p.Thr62Ile)
NM_018723.4(RBFOX1):c.196T>C (p.Tyr66His) rs1600687118
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser) rs143573994
NM_018723.4(RBFOX1):c.201T>A (p.Pro67=) rs757485949
NM_018723.4(RBFOX1):c.204C>T (p.Pro68=)
NM_018723.4(RBFOX1):c.205G>A (p.Ala69Thr)
NM_018723.4(RBFOX1):c.206C>G (p.Ala69Gly)
NM_018723.4(RBFOX1):c.210G>A (p.Gln70=) rs2076811567
NM_018723.4(RBFOX1):c.210G>T (p.Gln70His) rs2076811567
NM_018723.4(RBFOX1):c.219C>A (p.Ser73=)
NM_018723.4(RBFOX1):c.224A>C (p.Gln75Pro) rs2152189230
NM_018723.4(RBFOX1):c.230C>T (p.Pro77Leu)
NM_018723.4(RBFOX1):c.232G>T (p.Ala78Ser)
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly) rs761205127
NM_018723.4(RBFOX1):c.234G>A (p.Ala78=)
NM_018723.4(RBFOX1):c.235G>C (p.Asp79His) rs764702003
NM_018723.4(RBFOX1):c.238A>G (p.Thr80Ala)
NM_018723.4(RBFOX1):c.240G>A (p.Thr80=)
NM_018723.4(RBFOX1):c.245C>T (p.Ala82Val) rs780839692
NM_018723.4(RBFOX1):c.252C>A (p.Thr84=) rs752506752
NM_018723.4(RBFOX1):c.257C>G (p.Ser86Cys) rs2152190628
NM_018723.4(RBFOX1):c.257C>T (p.Ser86Phe)
NM_018723.4(RBFOX1):c.265G>A (p.Ala89Thr)
NM_018723.4(RBFOX1):c.270+10C>T rs113881725
NM_018723.4(RBFOX1):c.270+11G>A
NM_018723.4(RBFOX1):c.270+11G>T rs371402357
NM_018723.4(RBFOX1):c.270+19_270+22dup
NM_018723.4(RBFOX1):c.270+20A>G
NM_018723.4(RBFOX1):c.270+5G>T rs2076823058
NM_018723.4(RBFOX1):c.270+8G>A
NM_018723.4(RBFOX1):c.271-100_271-11del
NM_018723.4(RBFOX1):c.271-13C>T
NM_018723.4(RBFOX1):c.28-10G>T
NM_018723.4(RBFOX1):c.28-11del
NM_018723.4(RBFOX1):c.28-185041C>A
NM_018723.4(RBFOX1):c.28-185043T>C
NM_018723.4(RBFOX1):c.28-185043_28-185040del rs767678711
NM_018723.4(RBFOX1):c.28-185051A>T
NM_018723.4(RBFOX1):c.28-20G>T
NM_018723.4(RBFOX1):c.28-3C>T rs2076775196
NM_018723.4(RBFOX1):c.285A>G (p.Ala95=) rs754737409
NM_018723.4(RBFOX1):c.289C>G (p.Pro97Ala)
NM_018723.4(RBFOX1):c.290C>A (p.Pro97Gln)
NM_018723.4(RBFOX1):c.294G>A (p.Thr98=)
NM_018723.4(RBFOX1):c.295G>A (p.Asp99Asn)
NM_018723.4(RBFOX1):c.297T>C (p.Asp99=)
NM_018723.4(RBFOX1):c.30_37del (p.Asn11fs)
NM_018723.4(RBFOX1):c.311C>G (p.Thr104Arg)
NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)
NM_018723.4(RBFOX1):c.339G>A (p.Lys113=) rs760846272
NM_018723.4(RBFOX1):c.347C>T (p.Pro116Leu) rs905562885
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln) rs1057521725
NM_018723.4(RBFOX1):c.357G>C (p.Leu119=) rs751076623
NM_018723.4(RBFOX1):c.386G>A (p.Arg129Gln)
NM_018723.4(RBFOX1):c.396C>A (p.Asp132Glu) rs1242620682
NM_018723.4(RBFOX1):c.400A>T (p.Arg134Ter)
NM_018723.4(RBFOX1):c.413G>C (p.Gly138Ala) rs747242541
NM_018723.4(RBFOX1):c.414+16C>A
NM_018723.4(RBFOX1):c.414+20C>G
NM_018723.4(RBFOX1):c.414+5G>A rs2152836590
NM_018723.4(RBFOX1):c.415-14C>A rs766827645
NM_018723.4(RBFOX1):c.415-14C>T rs766827645
NM_018723.4(RBFOX1):c.415-19T>C
NM_018723.4(RBFOX1):c.415-20A>G
NM_018723.4(RBFOX1):c.415-20A>T rs1327343028
NM_018723.4(RBFOX1):c.424A>G (p.Lys142Glu)
NM_018723.4(RBFOX1):c.427A>G (p.Ile143Val)
NM_018723.4(RBFOX1):c.456G>A (p.Glu152=) rs1478825837
NM_018723.4(RBFOX1):c.45C>T (p.Ala15=) rs1351528483
NM_018723.4(RBFOX1):c.460G>C (p.Gly154Arg) rs2094181320
NM_018723.4(RBFOX1):c.468+10_468+11del rs768579064
NM_018723.4(RBFOX1):c.468+18C>G
NM_018723.4(RBFOX1):c.469-17C>T rs2152948167
NM_018723.4(RBFOX1):c.469-8G>A rs763792559
NM_018723.4(RBFOX1):c.469G>A (p.Gly157Arg)
NM_018723.4(RBFOX1):c.47C>T (p.Ala16Val) rs750798420
NM_018723.4(RBFOX1):c.481G>A (p.Val161Ile)
NM_018723.4(RBFOX1):c.490G>T (p.Glu164Ter) rs2094642630
NM_018723.4(RBFOX1):c.499G>A (p.Ala167Thr) rs2094642843
NM_018723.4(RBFOX1):c.501C>T (p.Ala167=)
NM_018723.4(RBFOX1):c.507G>C (p.Ala169=) rs763250831
NM_018723.4(RBFOX1):c.51C>A (p.Ala17=) rs139265655
NM_018723.4(RBFOX1):c.522G>C (p.Glu174Asp) rs760159651
NM_018723.4(RBFOX1):c.531C>T (p.His177=) rs1193035983
NM_018723.4(RBFOX1):c.537C>G (p.Thr179=) rs756360831
NM_018723.4(RBFOX1):c.543A>G (p.Val181=) rs2152948676
NM_018723.4(RBFOX1):c.55G>A (p.Asp19Asn)
NM_018723.4(RBFOX1):c.562-15T>A
NM_018723.4(RBFOX1):c.562-17G>C
NM_018723.4(RBFOX1):c.562-8G>T rs1283928972
NM_018723.4(RBFOX1):c.562-9T>C rs1555648980
NM_018723.4(RBFOX1):c.573C>T (p.Ala191=)
NM_018723.4(RBFOX1):c.584T>C (p.Val195Ala) rs2152958287
NM_018723.4(RBFOX1):c.585A>T (p.Val195=) rs368983711
NM_018723.4(RBFOX1):c.588G>C (p.Met196Ile)
NM_018723.4(RBFOX1):c.594_597del (p.Asn198fs) rs2094760665
NM_018723.4(RBFOX1):c.597A>C (p.Lys199Asn) rs2152958333
NM_018723.4(RBFOX1):c.610C>G (p.Pro204Ala) rs1360100229
NM_018723.4(RBFOX1):c.613dup (p.Tyr205fs)
NM_018723.4(RBFOX1):c.618A>G (p.Thr206=)
NM_018723.4(RBFOX1):c.622+11A>T
NM_018723.4(RBFOX1):c.622+3_622+4del
NM_018723.4(RBFOX1):c.622+4A>G
NM_018723.4(RBFOX1):c.622+5G>T
NM_018723.4(RBFOX1):c.623-16G>T
NM_018723.4(RBFOX1):c.629A>G (p.Lys210Arg) rs2095316869
NM_018723.4(RBFOX1):c.639A>G (p.Pro213=) rs1389267525
NM_018723.4(RBFOX1):c.640G>A (p.Val214Ile) rs372085042
NM_018723.4(RBFOX1):c.676+1G>T rs2141262938
NM_018723.4(RBFOX1):c.676+4_676+5del
NM_018723.4(RBFOX1):c.676+7_676+8del
NM_018723.4(RBFOX1):c.677-13C>T rs777768764
NM_018723.4(RBFOX1):c.677-20TC[5]
NM_018723.4(RBFOX1):c.677-4G>T rs759738790
NM_018723.4(RBFOX1):c.677-9C>G
NM_018723.4(RBFOX1):c.680C>T (p.Thr227Met) rs145006582
NM_018723.4(RBFOX1):c.687G>A (p.Leu229=) rs2060799020
NM_018723.4(RBFOX1):c.724A>G (p.Ser242Gly)
NM_018723.4(RBFOX1):c.728C>G (p.Ala243Gly)
NM_018723.4(RBFOX1):c.72T>A (p.Pro24=) rs1555542676
NM_018723.4(RBFOX1):c.742G>C (p.Val248Leu) rs757319815
NM_018723.4(RBFOX1):c.757+14C>G
NM_018723.4(RBFOX1):c.757+19C>G
NM_018723.4(RBFOX1):c.757+6C>A rs1435955739
NM_018723.4(RBFOX1):c.758-10T>C rs2144803234
NM_018723.4(RBFOX1):c.758-12C>G
NM_018723.4(RBFOX1):c.758-14_758-10del rs2144802781
NM_018723.4(RBFOX1):c.758-15_758-14insTCCC
NM_018723.4(RBFOX1):c.758-18_758-17insGT
NM_018723.4(RBFOX1):c.758-19_758-18insGC rs772354139
NM_018723.4(RBFOX1):c.758-4G>A rs112339093
NM_018723.4(RBFOX1):c.758-4G>T rs112339093
NM_018723.4(RBFOX1):c.758-5C>G
NM_018723.4(RBFOX1):c.758-5C>T rs368263619
NM_018723.4(RBFOX1):c.758-5_758-4delinsTT rs1060504699
NM_018723.4(RBFOX1):c.758-6C>T
NM_018723.4(RBFOX1):c.758-9G>T rs2065660205
NM_018723.4(RBFOX1):c.770C>G (p.Pro257Arg)
NM_018723.4(RBFOX1):c.786C>G (p.Thr262=) rs755253534
NM_018723.4(RBFOX1):c.786C>T (p.Thr262=)
NM_018723.4(RBFOX1):c.787G>A (p.Ala263Thr)
NM_018723.4(RBFOX1):c.790G>A (p.Ala264Thr)
NM_018723.4(RBFOX1):c.804A>T (p.Arg268=)
NM_018723.4(RBFOX1):c.810G>A (p.Ala270=)
NM_018723.4(RBFOX1):c.816G>A (p.Leu272=)
NM_018723.4(RBFOX1):c.819A>T (p.Arg273=)
NM_018723.4(RBFOX1):c.823C>T (p.Arg275Cys)
NM_018723.4(RBFOX1):c.828_859del (p.Arg277fs) rs2144810454
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys) rs1189994954
NM_018723.4(RBFOX1):c.833C>T (p.Thr278Ile) rs2065679298
NM_018723.4(RBFOX1):c.835G>A (p.Val279Met)
NM_018723.4(RBFOX1):c.839A>G (p.Tyr280Cys) rs2144812486
NM_018723.4(RBFOX1):c.853G>A (p.Ala285Thr) rs544967209
NM_018723.4(RBFOX1):c.853G>T (p.Ala285Ser)
NM_018723.4(RBFOX1):c.855C>T (p.Ala285=)
NM_018723.4(RBFOX1):c.858G>A (p.Ala286=) rs1060504700
NM_018723.4(RBFOX1):c.866C>T (p.Pro289Leu)
NM_018723.4(RBFOX1):c.870C>T (p.Pro290=)
NM_018723.4(RBFOX1):c.871C>T (p.Pro291Ser) rs768195911
NM_018723.4(RBFOX1):c.872C>T (p.Pro291Leu)
NM_018723.4(RBFOX1):c.876C>G (p.Ile292Met) rs997305923
NM_018723.4(RBFOX1):c.876C>T (p.Ile292=)
NM_018723.4(RBFOX1):c.878C>A (p.Pro293Gln) rs1157311700
NM_018723.4(RBFOX1):c.879G>A (p.Pro293=) rs200006523
NM_018723.4(RBFOX1):c.879G>C (p.Pro293=) rs200006523
NM_018723.4(RBFOX1):c.890+15C>G
NM_018723.4(RBFOX1):c.890+15C>T
NM_018723.4(RBFOX1):c.890+20G>T
NM_018723.4(RBFOX1):c.890+8G>C
NM_018723.4(RBFOX1):c.92C>A (p.Ala31Asp) rs761469568
NM_018723.4(RBFOX1):c.931-12C>T
NM_018723.4(RBFOX1):c.931-18T>C
NM_018723.4(RBFOX1):c.931-20_931-19inv
NM_018723.4(RBFOX1):c.931-3T>C rs1597853857
NM_018723.4(RBFOX1):c.931-5160C>A
NM_018723.4(RBFOX1):c.931-5161A>G rs750150151
NM_018723.4(RBFOX1):c.931-5163C>G rs756935023
NM_018723.4(RBFOX1):c.931-5170G>A rs763604762
NM_018723.4(RBFOX1):c.931-5221A>G
NM_018723.4(RBFOX1):c.931-5226T>A rs768777551
NM_018723.4(RBFOX1):c.931-5226T>G
NM_018723.4(RBFOX1):c.931-8T>C
NM_018723.4(RBFOX1):c.933T>C (p.Gly311=)
NM_018723.4(RBFOX1):c.934G>T (p.Gly312Cys) rs2073403458
NM_018723.4(RBFOX1):c.940G>A (p.Ala314Thr)
NM_018723.4(RBFOX1):c.944C>T (p.Ala315Val)
NM_018723.4(RBFOX1):c.948C>G (p.Tyr316Ter)
NM_018723.4(RBFOX1):c.949C>T (p.Arg317Cys) rs2146426013
NM_018723.4(RBFOX1):c.954C>G (p.Tyr318Ter)
NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser) rs199644500
NM_018723.4(RBFOX1):c.964_969del (p.Thr322_Pro323del) rs2146427156
NM_018723.4(RBFOX1):c.973A>G (p.Thr325Ala)
NM_018723.4(RBFOX1):c.978C>A (p.Ala326=) rs146803665
NM_018723.4(RBFOX1):c.978C>T (p.Ala326=) rs146803665
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) rs974157467
NM_018723.4(RBFOX1):c.984C>T (p.Ala328=) rs1312874997
NM_018723.4(RBFOX1):c.988A>G (p.Ser330Gly)
NM_018723.4(RBFOX1):c.995+16C>T
NM_018723.4(RBFOX1):c.995+2T>A rs1597855236
NM_018723.4(RBFOX1):c.996-13A>G
NM_018723.4(RBFOX1):c.996-14T>G
NM_018723.4(RBFOX1):c.996-15C>G
NM_018723.4(RBFOX1):c.996-18C>T
NM_018723.4(RBFOX1):c.99G>A (p.Pro33=)
NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu) rs2150388869
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser) rs188772875
NM_145893.3(RBFOX1):c.18A>T (p.Gly6=)
NM_145893.3(RBFOX1):c.22C>G (p.Leu8Val) rs1389613810
NM_145893.3(RBFOX1):c.24C>T (p.Leu8=) rs1159971428
NM_145893.3(RBFOX1):c.35A>G (p.Tyr12Cys)
NM_145893.3(RBFOX1):c.38G>T (p.Gly13Val)
NM_145893.3(RBFOX1):c.46A>G (p.Met16Val) rs779418628
NM_145893.3(RBFOX1):c.4C>G (p.Leu2Val) rs1196867548
NM_145893.3(RBFOX1):c.54A>G (p.Val18=) rs770264923
NM_145893.3(RBFOX1):c.56C>G (p.Pro19Arg) rs376061440
NM_145893.3(RBFOX1):c.56C>T (p.Pro19Leu) rs376061440
NM_145893.3(RBFOX1):c.68A>G (p.Tyr23Cys) rs1603623680
NM_145893.3(RBFOX1):c.69C>A (p.Tyr23Ter) rs1378405539
NM_145893.3(RBFOX1):c.69C>T (p.Tyr23=) rs1378405539
NM_145893.3(RBFOX1):c.70C>G (p.Leu24Val) rs765010942
NM_145893.3(RBFOX1):c.75T>C (p.Pro25=) rs2144461588
NM_145893.3(RBFOX1):c.76G>A (p.Gly26Arg)
NM_145893.3(RBFOX1):c.76G>T (p.Gly26Ter) rs1180011308
NM_145893.3(RBFOX1):c.85C>T (p.Gln29Ter) rs754561652
NM_145893.3(RBFOX1):c.86A>G (p.Gln29Arg)
NM_145893.3(RBFOX1):c.87+2T>C rs1240585365
NM_145893.3(RBFOX1):c.953_962del (p.Val318fs)
NM_145893.3(RBFOX1):c.957G>A (p.Val319=)
NM_145893.3(RBFOX1):c.970G>C (p.Val324Leu)
NM_145893.3(RBFOX1):c.989T>G (p.Leu330Arg)
NM_145893.3(RBFOX1):c.993+1G>A rs760593868

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