ClinVar Miner

List of variants studied for neurodevelopmental disorder by OMIM

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1596
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HGVS dbSNP gnomAD frequency
NM_006708.3(GLO1):c.332A>C (p.Glu111Ala) rs4746 0.37595
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu) rs142515812 0.00126
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) rs41291894 0.00076
NM_004947.5(DOCK3):c.1175G>A (p.Arg392Gln) rs199600118 0.00071
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter) rs200699349 0.00045
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_001353694.2(TIAM1):c.67C>T (p.Arg23Cys) rs149744081 0.00041
NR_023343.3(RNU4ATAC):n.51G>A rs188343279 0.00038
NM_001077415.3(CRELD1):c.959del (p.Gln320fs) rs759473511 0.00035
NM_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) rs141488085 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_001037132.4(NRCAM):c.1406A>G (p.Asn469Ser) rs201033539 0.00030
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala) rs119473030 0.00024
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg) rs201184598 0.00021
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_015959.4(TMX2):c.166G>C (p.Gly56Arg) rs367990143 0.00019
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) rs201866563 0.00014
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198 0.00012
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met) rs34675173 0.00011
NM_001376571.1(MADD):c.593G>A (p.Arg198His) rs149316791 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_004269.4(MED27):c.839C>T (p.Pro280Leu) rs778593272 0.00008
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274 0.00007
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) rs747831095 0.00007
NM_001160331.2(NFASC):c.2536C>T (p.Arg846Ter) rs755160624 0.00006
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_005918.4(MDH2):c.517G>A (p.Asp173Asn) rs372196070 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_019108.4(SMG9):c.551T>C (p.Val184Ala) rs749498958 0.00006
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro) rs539962457 0.00005
NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu) rs773888308 0.00005
NM_018245.3(OGDHL):c.730C>T (p.Arg244Trp) rs772819905 0.00005
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NR_023343.1:n.30G>A rs374299350 0.00005
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys) rs200649090 0.00004
NM_001080453.3(INTS1):c.5351C>A (p.Ser1784Ter) rs1286686353 0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884 0.00004
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter) rs147179561 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_004766.3(COPB2):c.760C>T (p.Arg254Cys) rs1229568621 0.00004
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter) rs771379232 0.00004
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) rs794726855 0.00004
NM_015465.5(GEMIN5):c.3203T>C (p.Leu1068Pro) rs371174241 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter) rs373278668 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_032242.4(PLXNA1):c.2641C>T (p.Arg881Trp) rs762983679 0.00004
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_138572.3(TAF8):c.489G>A (p.Pro163=) rs554917914 0.00004
NM_138572.3(TAF8):c.781-1G>A rs371261267 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00004
NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter) rs377626365 0.00003
NM_001145165.2(DOHH):c.668C>T (p.Pro223Leu) rs1031622115 0.00003
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334 0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp) rs367658234 0.00003
NM_004539.4(NARS1):c.50C>T (p.Thr17Met) rs148893823 0.00003
NM_005412.6(SHMT2):c.1267G>A (p.Gly423Ser) rs751223752 0.00003
NM_005918.4(MDH2):c.109G>A (p.Gly37Arg) rs782308462 0.00003
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) rs375002796 0.00003
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) rs368449236 0.00003
NM_020971.3(SPTBN4):c.7303C>T (p.Arg2435Cys) rs777273785 0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359 0.00003
NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys) rs753888773 0.00003
NM_194292.3(SASS6):c.127-13A>G rs1406541512 0.00003
NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys) rs746833089 0.00002
NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr) rs762553587 0.00002
NM_001353694.2(TIAM1):c.1144G>C (p.Gly382Arg) rs759037691 0.00002
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_001930.4(DHPS):c.1A>G (p.Met1Val) rs1306390986 0.00002
NM_003905.4(NAE1):c.254G>A (p.Arg85Gln) rs752555475 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681 0.00002
NM_004855.5(PIGB):c.695G>A (p.Arg232His) rs758196959 0.00002
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_006295.3(VARS1):c.2464G>A (p.Gly822Ser) rs376864621 0.00002
NM_006295.3(VARS1):c.2840G>A (p.Arg947His) rs150882285 0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln) rs753635972 0.00002
NM_014849.5(SV2A):c.1148G>A (p.Arg383Gln) rs782514088 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_015836.4(WARS2):c.833T>G (p.Val278Gly) rs765904496 0.00002
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter) rs778649204 0.00002
NM_017951.5(SMPD4):c.1290-9G>A rs766318490 0.00002
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) rs137852996 0.00002
NM_018303.6(EXOC2):c.389G>A (p.Arg130His) rs138470165 0.00002
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) rs730882241 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys) rs748743403 0.00002
NM_032242.4(PLXNA1):c.3230G>A (p.Arg1077His) rs772360004 0.00002
NM_032656.4(DHX37):c.2191G>A (p.Val731Met) rs754186165 0.00002
NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu) rs200502048 0.00002
NM_000817.3(GAD1):c.35C>G (p.Ser12Cys) rs121918345 0.00001
NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln) rs769709112 0.00001
NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter) rs1390058794 0.00001
NM_000844.4(GRM7):c.461T>C (p.Ile154Thr) rs1114167298 0.00001
NM_001013839.4(EXOC7):c.809-2A>G rs1310629937 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001037132.4(NRCAM):c.590G>A (p.Gly197Asp) rs772993703 0.00001
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448 0.00001
NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg) rs766951273 0.00001
NM_001048166.1(STIL):c.453+5G>A rs863225464 0.00001
NM_001080453.3(INTS1):c.5621C>T (p.Pro1874Leu) rs1162809128 0.00001
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His) rs387907082 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001083961.2(WDR62):c.363del (p.Asp122fs) rs587776901 0.00001
NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn) rs778818769 0.00001
NM_001135629.3(PPP1R21):c.193C>T (p.Arg65Ter) rs866802950 0.00001
NM_001135629.3(PPP1R21):c.427C>T (p.Arg143Ter) rs998498095 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001324418.2(ADAM22):c.1202G>A (p.Cys401Tyr) rs747259064 0.00001
NM_001353694.2(TIAM1):c.2584C>T (p.Leu862Phe) rs950317709 0.00001
NM_001353694.2(TIAM1):c.4016C>T (p.Ala1339Val) rs1319513413 0.00001
NM_001353694.2(TIAM1):c.983G>T (p.Gly328Val) rs1249016772 0.00001
NM_001365999.1(SZT2):c.2929+1G>A rs1295389410 0.00001
NM_001367561.1(DOCK7):c.6265G>T (p.Glu2089Ter) rs587777485 0.00001
NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys) rs752940799 0.00001
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe) rs1275959058 0.00001
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) rs1247507359 0.00001
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp) rs1571308125 0.00001
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys) rs369608407 0.00001
NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter) rs1064797099 0.00001
NM_003622.4(PPFIBP1):c.2413C>T (p.Arg805Ter) rs146185523 0.00001
NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg) rs121434396 0.00001
NM_003905.4(NAE1):c.1289G>A (p.Arg430Gln) rs1959664594 0.00001
NM_004204.5(PIGQ):c.690-2A>G rs587777543 0.00001
NM_004269.4(MED27):c.188T>G (p.Val63Gly) rs774752053 0.00001
NM_004269.4(MED27):c.565_566del (p.Met189fs) rs868381134 0.00001
NM_004269.4(MED27):c.682-2A>G rs1024055178 0.00001
NM_004269.4(MED27):c.776C>T (p.Pro259Leu) rs1838678412 0.00001
NM_004269.4(MED27):c.871G>A (p.Gly291Ser) rs774276967 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004667.6(HERC2):c.1781C>T (p.Pro594Leu) rs397518474 0.00001
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln) rs369838467 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_005482.3(PIGK):c.479A>C (p.Tyr160Ser) rs1164656857 0.00001
NM_005482.3(PIGK):c.610G>C (p.Asp204His) rs747692385 0.00001
NM_005482.3(PIGK):c.823T>C (p.Cys275Arg) rs1654968072 0.00001
NM_005918.4(MDH2):c.885+5G>A rs552544806 0.00001
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) rs1569239749 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064 0.00001
NM_006295.3(VARS1):c.1210C>T (p.Arg404Trp) rs749228986 0.00001
NM_006295.3(VARS1):c.2825G>A (p.Arg942Gln) rs1336685414 0.00001
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys) rs149378938 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_015466.4(PTPN23):c.1595C>T (p.Pro532Leu) rs1401681748 0.00001
NM_015466.4(PTPN23):c.904A>G (p.Met302Val) rs748601492 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_015959.4(TMX2):c.157C>T (p.Arg53Cys) rs145634348 0.00001
NM_015959.4(TMX2):c.164A>C (p.Asp55Ala) rs1398376742 0.00001
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu) rs1307746359 0.00001
NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?) rs998928845 0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738 0.00001
NM_016207.4(CPSF3):c.1061T>C (p.Ile354Thr) rs1370670757 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_018149.7(SMG8):c.2515C>T (p.Arg839Ter) rs755161625 0.00001
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) rs374351172 0.00001
NM_018303.6(EXOC2):c.1309C>T (p.Arg437Ter) rs754717014 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys) rs1057520299 0.00001
NM_018928.3(PCDHGC4):c.1463C>T (p.Ala488Val) rs775104626 0.00001
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975 0.00001
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly) rs387907019 0.00001
NM_020971.3(SPTBN4):c.1511G>A (p.Arg504Gln) rs765087147 0.00001
NM_020971.3(SPTBN4):c.1597C>T (p.Gln533Ter) rs1114167445 0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter) rs200618384 0.00001
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser) rs879255631 0.00001
NM_022786.3(ARV1):c.294+1G>A rs150619347 0.00001
NM_024063.3(AFG2B):c.1826C>G (p.Ser609Ter) rs778481503 0.00001
NM_024063.3(AFG2B):c.190C>T (p.Arg64Trp) rs1212383243 0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val) rs777812455 0.00001
NM_024063.3(AFG2B):c.734T>A (p.Val245Glu) rs1230836596 0.00001
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) rs387906961 0.00001
NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) rs755862917 0.00001
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305 0.00001
NM_024706.5(ZNF668):c.1111C>T (p.Arg371Ter) rs1178162893 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_024818.6(UBA5):c.181C>T (p.Arg61Ter) rs886039756 0.00001
NM_030630.3(HID1):c.1297C>T (p.Arg433Trp) rs994473385 0.00001
NM_030650.3(LNPK):c.751C>T (p.Arg251Ter) rs1391644554 0.00001
NM_032125.3(TMEM222):c.214G>A (p.Gly72Ser) rs757750599 0.00001
NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter) rs1204647586 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr) rs1186696459 0.00001
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr) rs769373772 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu) rs1057519087 0.00001
NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu) rs1057517689 0.00001
NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) rs200086262 0.00001
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) rs746930990 0.00001
NM_138376.3(TTC5):c.1183C>T (p.Arg395Ter) rs759503883 0.00001
NM_138376.3(TTC5):c.51+1G>A rs1444869298 0.00001
NM_138376.3(TTC5):c.692C>T (p.Ala231Val) rs749799203 0.00001
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter) rs199831317 0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153 0.00001
NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp) rs886039312 0.00001
NM_152743.4(BRAT1):c.803+1G>C rs869312931 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_175876.5(EXOC8):c.1815_1816del (p.Gly606_Asp607insTer) rs1686661157 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
GTPBP1, GLN555TER
GTPBP1, THR208ALA
GTPBP1, TYR509TER
IRF2BPL, 2-BP DEL, 2135GT
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
NC_000002.12:g.10440850_10440871del
NC_000002.12:g.121530929G>C rs181195449
NC_000002.12:g.121530945G>C rs377619732
NC_000002.12:g.121530990G>A rs763500364
NC_000003.11:g.51062402_51232768del
NC_000004.12:g.(?_86010404)_(86067956_86098523)del
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
NC_000008.10:g.11667760_11787743del
NC_000008.11:g.11802586_11802601del rs1563290033
NC_000009.12:g.(606181_654801)_831563del
NC_000010.11:g.93695674_93708392delinsTTAGTACAC
NC_000016.9:g.(53498276_53499349)_(53504835_53513065)del
NC_000017.10:g.40599557_40649783del
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del
NC_000019.10:g.(13214609_13224667)_(13286966_13300549)del
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup
NC_000019.10:g.(13359800_13371688)_(13371779_13505931)del
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_009814.1:g.(?_4989)_(10173_?)del
NG_042168.2:g.(35752_37583)_(39659_?)del
NM_000188.3(HK1):c.1241G>A (p.Gly414Glu) rs1064795154
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter) rs1569269179
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs) rs2147007424
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala) rs1057518514
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000718.4(CACNA1B):c.1147C>T (p.Arg383Ter) rs1554738159
NM_000718.4(CACNA1B):c.3573_3574del (p.Gly1192fs) rs1589093778
NM_000718.4(CACNA1B):c.3665del (p.Leu1222fs) rs1589095160
NM_000718.4(CACNA1B):c.4857+1G>C rs1589112601
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) rs1057518994
NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe)
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val)
NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs)
NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp)
NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs)
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His) rs1560442716
NM_000807.4(GABRA2):c.788T>C (p.Met263Thr) rs1577975808
NM_000807.4(GABRA2):c.871C>G (p.Leu291Val) rs1281490675
NM_000807.4(GABRA2):c.875C>A (p.Thr292Lys) rs1577800481
NM_000807.4(GABRA2):c.975C>A (p.Phe325Leu) rs1243977956
NM_000810.4(GABRA5):c.1238C>T (p.Ser413Phe) rs1595441329
NM_000810.4(GABRA5):c.880G>C (p.Val294Leu) rs1595438243
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe) rs1595438243
NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser) rs886039817
NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr) rs1728474004
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941
NM_000817.3(GAD1):c.1119+1G>A rs2105801986
NM_000817.3(GAD1):c.1414-1G>C rs1702866781
NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys) rs1381723796
NM_000817.3(GAD1):c.1591C>T (p.Arg531Ter) rs745595462
NM_000817.3(GAD1):c.1691A>G (p.Asn564Ser) rs1161418050
NM_000817.3(GAD1):c.639-1445del rs2105795792
NM_000817.3(GAD1):c.692AGA[1] (p.Lys232del) rs1702579715
NM_000817.3(GAD1):c.812_816del (p.Val271fs) rs1702611329
NM_000817.3(GAD1):c.87C>G (p.Tyr29Ter) rs774772554
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser) rs1555050158
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) rs1555050165
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly) rs1555050171
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val) rs1555050174
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro) rs765556214
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000836.4(GRIN2D):c.2043G>C (p.Met681Ile) rs1569065861
NM_000836.4(GRIN2D):c.2080A>C (p.Ser694Arg) rs1569065866
NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter) rs1695081736
NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp) rs1114167300
NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys) rs1114167301
NM_000937.5(POLR2A):c.1370T>C (p.Ile457Thr) rs1597796823
NM_000937.5(POLR2A):c.2098C>T (p.Gln700Ter) rs1597798340
NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter) rs1597798503
NM_000937.5(POLR2A):c.2207C>T (p.Thr736Met) rs1597798507
NM_000937.5(POLR2A):c.3371T>C (p.Leu1124Pro) rs1597803125
NM_000944.5(PPP3CA):c.1290dup (p.Met431fs) rs1560570541
NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter) rs1553920376
NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr) rs1553920374
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) rs1553925558
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001005388.3(NFASC):c.1076G>C (p.Arg359Pro) rs767453033
NM_001005388.3(NFASC):c.3365T>A (p.Val1122Glu) rs754724304
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys) rs2072168176
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln) rs2072157379
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val) rs2072155694
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn) rs2072153488
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala) rs2072244773
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001013663.2(PTRHD1):c.155G>A (p.Cys52Tyr) rs781442277
NM_001013663.2(PTRHD1):c.157C>T (p.His53Tyr) rs1057519631
NM_001013663.2(PTRHD1):c.169_196del (p.Ala57fs)
NM_001013663.2(PTRHD1):c.364C>T (p.Arg122Trp)
NM_001013663.2(PTRHD1):c.365G>A (p.Arg122Gln)
NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del) rs2067339335
NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del) rs759489151
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001031689.3(PLAA):c.1049A>T (p.Glu350Val) rs1824723269
NM_001031689.3(PLAA):c.2254C>T (p.Leu752Phe) rs1114167457
NM_001031689.3(PLAA):c.68G>T (p.Gly23Val) rs747956857
NM_001031689.3(PLAA):c.68dup (p.Leu24fs) rs1554662408
NM_001031689.3(PLAA):c.829T>C (p.Cys277Arg) rs1824935807
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_001032221.6(STXBP1):c.169+1G>A rs587776641
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001033044.4(GLUL):c.-13-1G>A
NM_001033044.4(GLUL):c.-13-2A>G rs2101936731
NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)
NM_001033044.4(GLUL):c.1A>G (p.Met1Val) rs1131691970
NM_001033044.4(GLUL):c.1A>T (p.Met1Leu) rs1131691970
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) rs2101936697
NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe) rs931949929
NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp) rs1600364712
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037132.4(NRCAM):c.2738G>A (p.Gly913Asp) rs2062777274
NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter) rs2153275538
NM_001037132.4(NRCAM):c.331G>T (p.Glu111Ter) rs140770274
NM_001037333.3(CYFIP2):c.1363G>C (p.Ala455Pro) rs1760440801
NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met) rs369858004
NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys) rs1760957806
NM_001037333.3(CYFIP2):c.2095G>C (p.Asp699His) rs1581069143
NM_001037333.3(CYFIP2):c.2099A>G (p.Gln700Arg) rs1761161860
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His)
NM_001037333.3(CYFIP2):c.3594+1G>T rs1767193145
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4419A>G (p.Ile1473Met) rs387906685
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser)
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042603.3(KDM5A):c.1429T>G (p.Phe477Val)
NM_001042603.3(KDM5A):c.2541+1G>T
NM_001042603.3(KDM5A):c.672+1488_1149+711del
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001042646.3(TRAK1):c.287-2A>C rs1559877920
NM_001042646.3(TRAK1):c.287-2A>G rs1559877920
NM_001042681.2(RERE):c.2249_2270dup (p.Thr758fs) rs878853252
NM_001042681.2(RERE):c.3785C>G (p.Pro1262Arg) rs878853270
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp) rs398122976
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609
NM_001077207.4(SEC31A):c.2776_2777dup (p.Ala927fs) rs1578188501
NM_001077415.3(CRELD1):c.1128_1129del (p.Ala377fs)
NM_001077415.3(CRELD1):c.784T>C (p.Cys262Arg) rs2124858642
NM_001079537.2(TRAPPC6B):c.150-2A>G rs1347223331
NM_001080453.3(INTS1):c.1645A>G (p.Met549Val) rs1030646527
NM_001080453.3(INTS1):c.5398dup (p.Arg1800fs) rs1562487424
NM_001080453.3(INTS1):c.5881C>T (p.Gln1961Ter) rs1284335313
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) rs1735294501
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) rs1735303754
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser) rs1579377564
NM_001083619.3(GRIA2):c.1939G>C (p.Val647Leu) rs765072736
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) rs1735116193
NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) rs267607177
NM_001083961.2(WDR62):c.193G>A (p.Val65Met) rs387907084
NM_001083961.2(WDR62):c.2086del (p.Ser696fs) rs863223322
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) rs397704725
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs) rs587776900
NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) rs397704721
NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs) rs587776899
NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) rs267607176
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2458-15_2486del rs770762084
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu) rs867599353
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser) rs1945385727
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001105537.3(ZNF142):c.[4183delC;4185G>A]
NM_001110792.2(MECP2):c.112del (p.Leu38fs) rs61754426
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) rs267608434
NM_001110792.2(MECP2):c.23_27dup (p.Ser10fs) rs786205038
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.414-2A>G rs267608464
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) rs28934905
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) rs267608488
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) rs267608524
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001112.4(ADARB1):c.1245_1247+1del
NM_001112.4(ADARB1):c.1492A>G (p.Ser498Gly) rs2092054613
NM_001112.4(ADARB1):c.1688G>A (p.Arg563Gln) rs1364071684
NM_001112.4(ADARB1):c.1769G>A (p.Arg590Gln)
NM_001112.4(ADARB1):c.2045C>T (p.Ala682Val) rs1323703791
NM_001112.4(ADARB1):c.379A>G (p.Lys127Glu) rs2091682680
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.2813dup (p.Ser939fs) rs587776694
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs) rs587776692
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.3989+1G>A rs587776693
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) rs121908219
NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys) rs121908227
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) rs121908233
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser) rs886037946
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs) rs587776695
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) rs121908226
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val) rs1755338662
NM_001130021.3(ATP6V0A1):c.1429T>C (p.Ser477Pro)
NM_001130021.3(ATP6V0A1):c.1513G>C (p.Ala505Pro)
NM_001130021.3(ATP6V0A1):c.1579A>G (p.Asn527Asp)
NM_001130021.3(ATP6V0A1):c.1631G>A (p.Gly544Asp)
NM_001130021.3(ATP6V0A1):c.196+1G>A
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130021.3(ATP6V0A1):c.2411G>A (p.Arg804His)
NM_001130021.3(ATP6V0A1):c.445del (p.Glu149fs) rs2145815692
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001135629.3(PPP1R21):c.1607dup (p.Leu536fs) rs2103624293
NM_001135629.3(PPP1R21):c.2089C>T (p.Arg697Ter) rs989639063
NM_001135629.3(PPP1R21):c.2170_2171insGGTA (p.Ile724fs)
NM_001135629.3(PPP1R21):c.347del (p.Ile116fs) rs2103789078
NM_001135629.3(PPP1R21):c.87_88del (p.Gly30fs) rs2103757235
NM_001145165.2(DOHH):c.304del (p.Glu102fs) rs2082890188
NM_001145165.2(DOHH):c.552C>A (p.Asn184Lys) rs748141704
NM_001145165.2(DOHH):c.654_655insAACC (p.Glu219fs) rs761870531
NM_001145165.2(DOHH):c.746T>C (p.Ile249Thr) rs2122051585
NM_001145165.2(DOHH):c.840T>A (p.Tyr280Ter) rs1707310281
NM_001145306.2(CDK6):c.589G>A (p.Ala197Thr) rs606231255
NM_001162383.2(ARHGEF2):c.1545+1del rs1114167454
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001164760.2(PRKAR1B):c.500_501inv (p.Gln167Leu)
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) rs76344857
NM_001165963.4(SCN1A):c.1264G>T (p.Val422Leu) rs886042528
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly) rs397514459
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) rs121918625
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) rs1574061044
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs) rs1574272192
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001178015.2(SLC4A10):c.1052G>C (p.Arg351Thr)
NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp)
NM_001178015.2(SLC4A10):c.2162A>G (p.Tyr721Cys)
NM_001178015.2(SLC4A10):c.2269C>T (p.Arg757Ter)
NM_001178015.2(SLC4A10):c.2619G>A (p.Trp873Ter)
NM_001178015.2(SLC4A10):c.2863-2A>C
NM_001178015.2(SLC4A10):c.2894C>T (p.Pro965Leu)
NM_001178015.2(SLC4A10):c.417-1341del
NM_001178015.2(SLC4A10):c.667C>T (p.His223Tyr)
NM_001178015.2(SLC4A10):c.[1730A>T;3308A>T]
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs) rs2147539848
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) rs587777243
NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) rs121918335
NM_001194998.1(CEP152):c.[3676_3678delAAC;3149T>C]
NM_001199107.1(TBC1D24):c.969_970delGT rs398122941
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) rs1565532385
NM_001204077.2(UBE4A):c.1217_1218del (p.Cys406fs) rs1948638548
NM_001204077.2(UBE4A):c.384G>A (p.Trp128Ter) rs2134089305
NM_001204077.2(UBE4A):c.631C>T (p.Arg211Ter) rs748926976
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) rs778291283
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2104G>T (p.Ala702Ser)
NM_001206999.2(CIT):c.1111+1G>A rs879255522
NM_001206999.2(CIT):c.29_38del (p.Asn10fs) rs879253817
NM_001206999.2(CIT):c.317G>T (p.Gly106Val) rs886037892
NM_001206999.2(CIT):c.376A>C (p.Lys126Gln) rs886037893
NM_001206999.2(CIT):c.689A>T (p.Asp230Val) rs886037894
NM_001206999.2(CIT):c.753+3A>T rs886037895
NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg) rs1037878155
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys) rs953743301
NM_001257293.2(HNRNPH1):c.1240_1243dup (p.Gln415fs)
NM_001257293.2(HNRNPH1):c.616C>T (p.Arg206Trp) rs1770718566
NM_001257293.2(HNRNPH1):c.617G>A (p.Arg206Gln)
NM_001257293.2(HNRNPH1):c.618dup (p.Pro207fs)
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1809+1del rs397514739
NM_001271.4(CHD2):c.1810-2A>C rs398122999
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu) rs2134518071
NM_001277.3(CHKA):c.14dup (p.Cys6fs) rs2153034844
NM_001277.3(CHKA):c.2T>C (p.Met1Thr) rs2153034846
NM_001277.3(CHKA):c.421C>T (p.Arg141Trp) rs765529707
NM_001277.3(CHKA):c.580C>T (p.Pro194Ser) rs763056271
NM_001278512.2(AP3B2):c.1110+1G>C rs1057519270
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) rs1057519269
NM_001278512.2(AP3B2):c.1489-245_1665+2029del
NM_001278512.2(AP3B2):c.1837del (p.Glu613fs) rs1057519272
NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter) rs775024756
NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs) rs1057519271
NM_001303457.2(TTI1):c.2300T>C (p.Leu767Ser)
NM_001303457.2(TTI1):c.2302+1G>T
NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn) rs375131638
NM_001303457.2(TTI1):c.2978T>G (p.Leu993Arg)
NM_001303457.2(TTI1):c.835T>G (p.Trp279Gly)
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro) rs1567198751
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs) rs1567128142
NM_001320.7(CSNK2B):c.108dup (p.Thr37fs) rs1131692161
NM_001320.7(CSNK2B):c.175+2T>G rs1583605716
NM_001320.7(CSNK2B):c.265del (p.Thr90fs) rs1583608557
NM_001320.7(CSNK2B):c.367+2T>C rs1583610610
NM_001320.7(CSNK2B):c.368-2A>G rs1583611290
NM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs) rs1583611843
NM_001320.7(CSNK2B):c.621dup (p.Lys208fs) rs1583613268
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_001324418.2(ADAM22):c.2396del (p.Ser799fs) rs1554519462
NM_001324418.2(ADAM22):c.2860C>T (p.Arg954Ter) rs1262642807
NM_001326342.2(CELF2):c.1516C>G (p.Arg506Gly) rs2132785331
NM_001326342.2(CELF2):c.1558C>T (p.Pro520Ser) rs2132786780
NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter) rs2132786873
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001346249.2(RALGAPA1):c.1126C>T (p.Arg376Ter) rs1595416752
NM_001346249.2(RALGAPA1):c.4745A>G (p.Asn1582Ser) rs1595085511
NM_001346249.2(RALGAPA1):c.610G>T (p.Glu204Ter) rs1595446167
NM_001346249.2(RALGAPA1):c.6510del (p.Phe2170fs) rs1594878619
NM_001346249.2(RALGAPA1):c.7250C>G (p.Ser2417Ter) rs1594642302
NM_001347714.2(FRA10AC1):c.-269_77+32del
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.3334_3335del (p.Ser1112fs) rs1597850788
NM_001348716.2(KDM6B):c.3730G>T (p.Glu1244Ter) rs1567801402
NM_001348716.2(KDM6B):c.3762_3764del (p.Asp1254del)
NM_001348716.2(KDM6B):c.3992A>G (p.Asn1331Ser) rs1567802147
NM_001348716.2(KDM6B):c.4136A>C (p.Tyr1379Ser) rs1567802439
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348768.2(HECW2):c.3577T>G (p.Phe1193Val) rs878854422
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) rs878854417
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001353694.2(TIAM1):c.4640C>A (p.Ala1547Glu) rs760187500
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) rs121918361
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile) rs886041034
NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter) rs397515490
NM_001365999.1(SZT2):c.3668dup (p.Ala1224fs) rs1653321651
NM_001365999.1(SZT2):c.3871_3887del (p.Asn1291fs) rs1653397925
NM_001365999.1(SZT2):c.5653del (p.Gly1886fs) rs1654084368
NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter) rs397515489
NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr) rs1553153691
NM_001365999.1(SZT2):c.7996T>G (p.Trp2666Gly) rs1655170724
NM_001365999.1(SZT2):c.8333C>G (p.Ser2778Cys) rs1276523236
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367561.1(DOCK7):c.2510del (p.Asp837fs) rs886037665
NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter) rs587777484
NM_001367561.1(DOCK7):c.983C>G (p.Ser328Ter) rs886037666
NM_001371727.1(GABRB2):c.236T>C (p.Met79Thr) rs606231468
NM_001371727.1(GABRB2):c.730T>C (p.Tyr244His) rs1554094149
NM_001371727.1(GABRB2):c.830T>C (p.Leu277Ser) rs1554094145
NM_001371727.1(GABRB2):c.859A>C (p.Thr287Pro) rs1554093894
NM_001371727.1(GABRB2):c.908A>G (p.Lys303Arg) rs1554093885
NM_001376571.1(MADD):c.1061C>T (p.Pro354Leu) rs370382902
NM_001376571.1(MADD):c.3559del (p.Val1186_Met1187insTer) rs2070645772
NM_001376571.1(MADD):c.3637_3638del (p.Asp1212_Ser1213insTer) rs2071226513
NM_001378.3(DYNC1I2):c.607+1G>A rs1574594051
NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter) rs1574596084
NM_001378414.1(HDAC4):c.731C>A (p.Thr244Lys) rs2042442594
NM_001378414.1(HDAC4):c.740A>G (p.Glu247Gly) rs2152917896
NM_001378414.1(HDAC4):c.742C>G (p.Pro248Ala) rs2152917882
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_001378457.1(DMXL2):c.4478C>A (p.Ser1493Ter) rs1596016716
NM_001378457.1(DMXL2):c.4478C>G (p.Ser1493Ter) rs1596016716
NM_001378457.1(DMXL2):c.5135C>T (p.Ala1712Val) rs372749193
NM_001378457.1(DMXL2):c.6257_6258insTTACATGA (p.Glu2086fs) rs1595955503
NM_001378457.1(DMXL2):c.7521-1G>A rs1595908479
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368
NM_001379659.1(ZNF142):c.2341C>T (p.Arg781Cys)
NM_001379659.1(ZNF142):c.4602del (p.Leu1535fs) rs1575060677
NM_001382637.1(OTUD7A):c.1146del (p.Glu382fs)
NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe) rs1162953058
NM_001385012.1(NBEA):c.1006C>T (p.Arg336Ter) rs1275520648
NM_001385012.1(NBEA):c.3994C>T (p.Pro1332Ser) rs2069590640
NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg) rs1594162606
NM_001385012.1(NBEA):c.6313G>T (p.Glu2105Ter) rs910146888
NM_001385012.1(NBEA):c.6829C>T (p.Arg2277Ter) rs2079516243
NM_001385012.1(NBEA):c.8464G>A (p.Glu2822Lys) rs2085290856
NM_001388303.1(HECTD4):c.10219C>T (p.His3407Tyr)
NM_001388303.1(HECTD4):c.2230C>T (p.Arg744Ter)
NM_001388303.1(HECTD4):c.4912del (p.Thr1638fs)
NM_001388303.1(HECTD4):c.6367C>T (p.Gln2123Ter)
NM_001388303.1(HECTD4):c.6794C>G (p.Thr2265Arg)
NM_001393504.1(MAST3):c.1304G>C (p.Arg435Pro)
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001393504.1(MAST3):c.1630G>A (p.Gly544Ser)
NM_001393504.1(MAST3):c.1634T>C (p.Leu545Pro)
NM_001393504.1(MAST3):c.1738G>T (p.Val580Leu)
NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)
NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)
NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)
NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)
NM_001605.3(AARS1):c.2067dup (p.Tyr690fs) rs2152153611
NM_001690.4(ATP6V1A):c.1045G>A (p.Asp349Asn) rs1553710664
NM_001690.4(ATP6V1A):c.1068G>T (p.Glu356Asp)
NM_001690.4(ATP6V1A):c.1088G>T (p.Gly363Val)
NM_001690.4(ATP6V1A):c.1112A>G (p.Asp371Gly) rs1553710694
NM_001690.4(ATP6V1A):c.298G>T (p.Asp100Tyr) rs1553709855
NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg) rs1553709380
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr) rs2150267036
NM_001829.4(CLCN3):c.336_339del (p.Lys112fs) rs2150246636
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001967.4(EIF4A2):c.1032G>C (p.Leu344Phe)
NM_001967.4(EIF4A2):c.1091G>A (p.Gly364Glu) rs2108464046
NM_001967.4(EIF4A2):c.1161_1166del (p.Asp387_Ile388del)
NM_001967.4(EIF4A2):c.186_187del (p.Arg62fs)
NM_001967.4(EIF4A2):c.647C>T (p.Thr216Ile)
NM_001967.4(EIF4A2):c.728C>T (p.Thr243Ile) rs2108458617
NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys) rs2116052322
NM_002069.6(GNAI1):c.143C>A (p.Thr48Lys) rs1788434338
NM_002069.6(GNAI1):c.671G>A (p.Cys224Tyr) rs1788864590
NM_002069.6(GNAI1):c.809A>G (p.Lys270Arg) rs2115712676
NM_002069.6(GNAI1):c.815A>G (p.Asp272Gly) rs2115712712
NM_002069.6(GNAI1):c.995T>A (p.Val332Glu) rs2115727431
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del) rs1473654961
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_002238.3(KCNH1):c.[1066G>C;974C>A]
NM_002516.4(NOVA2):c.701_720dup (p.Ala241fs) rs1967741450
NM_002516.4(NOVA2):c.709_748del (p.Val237fs) rs1967739365
NM_002516.4(NOVA2):c.710_711dup (p.Leu238fs) rs1967742137
NM_002516.4(NOVA2):c.720_721insCCGCGGATGTGCTTCCAGCC (p.Ala241fs) rs1967741386
NM_002516.4(NOVA2):c.781del (p.Val261fs) rs1967737959
NM_002516.4(NOVA2):c.782del (p.Val261fs) rs1600596180
NM_002539.3(ODC1):c.1240_1241dup (p.Trp414fs) rs1671814787
NM_002539.3(ODC1):c.1241+1G>T rs1671814748
NM_002539.3(ODC1):c.1255C>T (p.Gln419Ter) rs1671798353
NM_002539.3(ODC1):c.1342A>T (p.Lys448Ter) rs1671794742
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu) rs587777398
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu) rs587777400
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe) rs201119959
NM_002641.4(PIGA):c.76dup (p.Tyr26fs) rs587777397
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.373C>T (p.Gln125Ter) rs1561734790
NM_002715.4(PPP2CA):c.438del (p.Phe146fs) rs1561734750
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) rs864622012
NM_002793.4(PSMB1):c.307T>C (p.Tyr103His)
NM_002802.3(PSMC1):c.983T>C (p.Ile328Thr)
NM_002816.5(PSMD12):c.1274T>G (p.Leu425Ter) rs1114167443
NM_002816.5(PSMD12):c.367C>T (p.Arg123Ter) rs1114167442
NM_002816.5(PSMD12):c.601C>T (p.Arg201Ter) rs895130488
NM_002816.5(PSMD12):c.909-2A>G rs1114167444
NM_003086.4(SNAPC4):c.1157A>G (p.Gln386Arg)
NM_003086.4(SNAPC4):c.1321G>A (p.Asp441Asn)
NM_003086.4(SNAPC4):c.1325+1G>T
NM_003086.4(SNAPC4):c.2428C>T (p.Arg810Ter)
NM_003086.4(SNAPC4):c.2527+1G>A
NM_003086.4(SNAPC4):c.595G>A (p.Asp199Asn)
NM_003086.4(SNAPC4):c.737+5G>T
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu) rs2038452898
NM_003285.3(TNR):c.1475del (p.Arg492fs) rs2102034857
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter) rs1287757170
NM_003285.3(TNR):c.2744_2745del (p.Val915fs) rs1571339601
NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys) rs1578264574
NM_003359.4(UGDH):c.214T>G (p.Ser72Ala) rs769243823
NM_003359.4(UGDH):c.244G>A (p.Ala82Thr) rs1578274054
NM_003470.3(USP7):c.1728T>A (p.Cys576Ter) rs2061808524
NM_003470.3(USP7):c.2169_2170del (p.Arg723fs) rs1555462347
NM_003470.3(USP7):c.3202+1G>T rs2061653217
NM_003470.3(USP7):c.429C>G (p.Tyr143Ter) rs756550597
NM_003470.3(USP7):c.675G>A (p.Met225Ile) rs1555465642
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.312+1del rs312262822
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003620.4(PPM1D):c.1216del (p.Thr406fs) rs747947002
NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter) rs189669693
NM_003620.4(PPM1D):c.1250dup (p.Pro418fs) rs1064797100
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098
NM_003622.4(PPFIBP1):c.1368_1369del (p.Glu456fs) rs2140228979
NM_003622.4(PPFIBP1):c.1468C>T (p.Gln490Ter) rs2140279716
NM_003622.4(PPFIBP1):c.2654del (p.Tyr885fs) rs2140520299
NM_003622.4(PPFIBP1):c.403C>T (p.Arg135Ter) rs143847599
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln) rs886037851
NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)
NM_003705.5(SLC25A12):c.1447-2_1447-1del
NM_003905.4(NAE1):c.147G>C (p.Leu49Phe) rs760101172
NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs) rs1562159599
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter) rs1562159562
NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter) rs1562159088
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser) rs2124253547
NM_004114.5(FGF13):c.31C>T (p.Arg11Cys) rs2090039774
NM_004114.5(FGF13):c.32G>C (p.Arg11Pro) rs2090039732
NM_004114.5(FGF13):c.41G>C (p.Arg14Thr) rs2090039606
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro) rs886037943
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)
NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)
NM_004184.4(WARS1):c.1A>G (p.Met1Val)
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)
NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs) rs2035826930
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004269.4(MED27):c.392_393del (p.Gln131fs) rs2131076903
NM_004336.5(BUB1):c.2197dup (p.Ala733fs)
NM_004336.5(BUB1):c.2625+1G>A
NM_004336.5(BUB1):c.2T>G (p.Met1Arg)
NM_004341.5(CAD):c.1843-1G>A rs769567624
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.350del (p.Pro117fs)
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) rs587777860
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.850C>T (p.Gln284Ter) rs1588368432
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401
NM_004408.4(DNM1):c.97C>T (p.Gln33Ter)
NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe) rs587777036
NM_004462.5(FDFT1):c.880-24_880-23delinsAG rs1563339323
NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs) rs730882061
NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter) rs387906641
NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) rs786205900
NM_004523.4(KIF11):c.1592del (p.Gln531fs) rs730882062
NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter) rs1554862427
NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs) rs730882121
NM_004523.4(KIF11):c.2547+2T>C rs730882063
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004523.4(KIF11):c.790-1G>A rs730882122
NM_004523.4(KIF11):c.790-1G>T rs730882122
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004539.4(NARS1):c.203dup (p.Met69fs) rs1908000933
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) rs771435243
NM_004780.3(TCEAL1):c.169del (p.Leu57fs) rs2147641837
NM_004780.3(TCEAL1):c.259C>T (p.Gln87Ter) rs2147641920
NM_004780.3(TCEAL1):c.269G>A (p.Cys90Tyr) rs2147641927
NM_004780.3(TCEAL1):c.299_302del (p.Gly100fs) rs2147641982
NM_004780.3(TCEAL1):c.447G>A (p.Trp149Ter) rs2147642131
NM_004855.5(PIGB):c.1162G>C (p.Ala388Pro) rs1595805026
NM_004855.5(PIGB):c.1220A>G (p.His407Arg) rs1566960044
NM_004855.5(PIGB):c.847-10A>G rs779296101
NM_004855.5(PIGB):c.856G>C (p.Val286Leu) rs1595791368
NM_004947.5(DOCK3):c.1038-2A>G rs1560212751
NM_004947.5(DOCK3):c.3107_3110del (p.Tyr1036fs) rs1560414254
NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter) rs1553749681
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) rs786205231
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) rs876657390
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) rs587777850
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005052.3(RAC3):c.182A>T (p.Gln61Leu) rs1568018920
NM_005052.3(RAC3):c.183GGA[1] (p.Glu62del)
NM_005052.3(RAC3):c.184G>A (p.Glu62Lys) rs1064797229
NM_005052.3(RAC3):c.187G>A (p.Asp63Asn) rs2043443828
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) rs2043443851
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg) rs2043431490
NM_005052.3(RAC3):c.86C>T (p.Pro29Leu) rs1568018697
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg) rs1804373189
NM_005273.4(GNB2):c.229G>T (p.Gly77Trp) rs1804373189
NM_005273.4(GNB2):c.265A>G (p.Lys89Glu) rs2131350514
NM_005273.4(GNB2):c.266A>C (p.Lys89Thr) rs2131350517
NM_005402.4(RALA):c.389A>G (p.Asp130Gly) rs2116098628
NM_005402.4(RALA):c.469T>G (p.Ser157Ala) rs2116098885
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005402.4(RALA):c.73G>T (p.Val25Leu) rs1554297905
NM_005412.6(SHMT2):c.1124-4_1126delinsA rs2037430917
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp) rs2037432429
NM_005412.6(SHMT2):c.1304A>C (p.Gln435Pro) rs2037448764
NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala) rs2037465152
NM_005412.6(SHMT2):c.469C>T (p.Pro157Ser) rs1426413125
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg) rs769908186
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp) rs1554689320
NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile) rs1554689319
NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn) rs1554689315
NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr) rs1554689313
NM_005482.3(PIGK):c.158C>T (p.Ser53Phe) rs1656295216
NM_005482.3(PIGK):c.260C>T (p.Ala87Val) rs772948495
NM_005482.3(PIGK):c.87dup (p.Ile30fs) rs2100594030
NM_005482.3(PIGK):c.94-1G>C rs1656392054
NM_005482.3(PIGK):c.97C>T (p.Gln33Ter) rs1656391998
NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp) rs1245844735
NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro) rs1750506249
NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly) rs935132421
NM_005573.4(LMNB1):c.939+1G>A rs1751587092
NM_005573.4(LMNB1):c.939+2362_1491+560del
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) rs1750497172
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter) rs2153138545
NM_005611.4(RBL2):c.573-1358_766+5del
NM_005611.4(RBL2):c.926dup (p.Leu310fs) rs1401758241
NM_005618.4(DLL1):c.1492G>T (p.Glu498Ter) rs371262985
NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter) rs1583152162
NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs) rs1583151308
NM_005618.4(DLL1):c.231C>A (p.Cys77Ter) rs1583157635
NM_005618.4(DLL1):c.54+1G>A rs1583158315
NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs)
NM_005826.5(HNRNPR):c.1643dup (p.Pro549fs)
NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter) rs1553153365
NM_005826.5(HNRNPR):c.1754G>A (p.Arg585His)
NM_005898.5(CAPRIN1):c.1195C>T (p.Gln399Ter)
NM_005898.5(CAPRIN1):c.1744C>T (p.Gln582Ter)
NM_005898.5(CAPRIN1):c.879G>A (p.Glu293=)
NM_005898.5(CAPRIN1):c.892C>T (p.Gln298Ter)
NM_005917.4(MDH1):c.359C>T (p.Ala120Val) rs1709340590
NM_005918.4(MDH2):c.596del (p.Gly199fs) rs1057519567
NM_005918.4(MDH2):c.620C>T (p.Pro207Leu) rs1057519566
NM_005918.4(MDH2):c.751A>G (p.Met251Val)
NM_006031.6(PCNT):c.1528dup (p.Thr510fs) rs1369869782
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.844dup (p.Glu282fs) rs1601795448
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del) rs2148093442
NM_006035.4(CDC42BPB):c.2290C>T (p.Arg764Ter) rs1595476797
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys) rs1595472764
NM_006035.4(CDC42BPB):c.2626C>T (p.Arg876Trp) rs1595472741
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006035.4(CDC42BPB):c.879C>G (p.Ile293Met) rs1016320330
NM_006045.3(ATP9A):c.433C>T (p.Arg145Ter)
NM_006045.3(ATP9A):c.642+1G>A
NM_006045.3(ATP9A):c.658C>T (p.Arg220Ter)
NM_006045.3(ATP9A):c.799+1G>T rs2122814957
NM_006045.3(ATP9A):c.868C>T (p.Arg290Ter)
NM_006045.3(ATP9A):c.983G>A (p.Trp328Ter)
NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln) rs1323339153
NM_006160.4(NEUROD2):c.401T>C (p.Met134Thr) rs1567841596
NM_006178.4(NSF):c.1375G>A (p.Ala459Thr) rs2146247619
NM_006178.4(NSF):c.1688C>T (p.Pro563Leu) rs2146266663
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter) rs201204481
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro) rs1557563410
NM_006295.3(VARS1):c.1300C>G (p.Leu434Val) rs1562303235
NM_006295.3(VARS1):c.1577-2A>G rs1562301511
NM_006295.3(VARS1):c.219_232dup (p.Leu78fs) rs757026184
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) rs1060499734
NM_006295.3(VARS1):c.3192G>A (p.Met1064Ile) rs1562293093
NM_006306.4(SMC1A):c.1911+1G>T rs2075687835
NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter) rs2075681060
NM_006306.4(SMC1A):c.2364del (p.Asn788fs) rs2075680107
NM_006306.4(SMC1A):c.2394del (p.Lys798fs) rs1569356555
NM_006306.4(SMC1A):c.2477del (p.Asn826fs) rs2075664229
NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly) rs2075651835
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter) rs2075591576
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006441.4(MTHFS):c.107T>C (p.Leu36Pro) rs1349638340
NM_006513.4(SARS1):c.1168C>T (p.Arg390Cys)
NM_006513.4(SARS1):c.1196C>T (p.Thr399Met)
NM_006513.4(SARS1):c.514G>A (p.Asp172Asn) rs1553178049
NM_006513.4(SARS1):c.638G>T (p.Arg213Leu) rs539161490
NM_006513.4(SARS1):c.904C>T (p.Arg302Cys)
NM_006586.5(CNPY3):c.373G>C (p.Gly125Arg) rs1554292759
NM_006586.5(CNPY3):c.495+1G>A rs1554292820
NM_006586.5(CNPY3):c.702_720dup (p.Ser241delinsGlySerArgArgGlnGluTer) rs1554123960
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006841.6(SLC38A3):c.1049C>A (p.Ser350Ter) rs1368316485
NM_006841.6(SLC38A3):c.1119del (p.Val373_Leu374insTer) rs2109158868
NM_006841.6(SLC38A3):c.1123A>C (p.Thr375Pro) rs2109158872
NM_006841.6(SLC38A3):c.1212G>A (p.Trp404Ter) rs2109159077
NM_006841.6(SLC38A3):c.855+1G>T rs2109157808
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006924.5(SRSF1):c.119G>T (p.Gly40Val)
NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)
NM_006924.5(SRSF1):c.478G>A (p.Val160Met)
NM_006924.5(SRSF1):c.579dup (p.Val194fs)
NM_006924.5(SRSF1):c.71C>T (p.Pro24Leu) rs2143492189
NM_007187.5(WBP4):c.499del (p.Thr167fs)
NM_007192.4(SUPT16H):c.1295T>C (p.Leu432Pro) rs2139403510
NM_007192.4(SUPT16H):c.1712A>G (p.Asn571Ser) rs2139402444
NM_007192.4(SUPT16H):c.2200C>T (p.Arg734Trp) rs2139399670
NM_007241.4(SNF8):c.236C>T (p.Pro79Leu)
NM_007241.4(SNF8):c.304G>A (p.Val102Ile)
NM_007241.4(SNF8):c.423-1G>C
NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter)
NM_007241.4(SNF8):c.572G>A (p.Gly191Asp)
NM_007241.4(SNF8):c.623G>T (p.Arg208Leu)
NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.526C>T (p.Leu176Phe) rs267606957
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007327.4(GRIN1):c.1666C>T (p.Gln556Ter) rs1554770057
NM_007327.4(GRIN1):c.394-1G>C rs2131216928
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro) rs1645264815
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg) rs1645264815
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys) rs2148711374
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012199.5(AGO1):c.760G>A (p.Val254Ile) rs1645274152
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_013374.6(PDCD6IP):c.154_158dup (p.Val54fs)
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014232.3(VAMP2):c.128_130del rs1598265441
NM_014232.3(VAMP2):c.132CAT[1] (p.Ile45del) rs1598265438
NM_014232.3(VAMP2):c.223T>C (p.Ser75Pro) rs1598265387
NM_014232.3(VAMP2):c.230T>C (p.Phe77Ser) rs1598265384
NM_014232.3(VAMP2):c.233A>C (p.Glu78Ala) rs1598265382
NM_014264.5(PLK4):c.2811-5C>G rs724159995
NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg) rs2148539394
NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu) rs762580458
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs) rs878853283
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014334.4(FRRS1L):c.692G>A (p.Trp231Ter) rs878853281
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280
NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs) rs794726856
NM_014671.3(UBE3C):c.1999del (p.Asp667fs)
NM_014712.3(SETD1A):c.1014dup (p.Ala339fs) rs2056111688
NM_014712.3(SETD1A):c.1602_1603del (p.Gly535fs) rs2056124989
NM_014712.3(SETD1A):c.4495T>G (p.Tyr1499Asp) rs2056360507
NM_014847.4(UBAP2L):c.2724C>A (p.Tyr908Ter) rs763832290
NM_014847.4(UBAP2L):c.3168+3A>G
NM_014847.4(UBAP2L):c.562G>T (p.Gly188Ter)
NM_014847.4(UBAP2L):c.590+1G>A
NM_014847.4(UBAP2L):c.88C>T (p.Gln30Ter)
NM_014849.5(SV2A):c.865C>T (p.Arg289Ter)
NM_014865.4(NCAPD2):c.4120+2T>C rs1555141158
NM_014875.3(KIF14):c.246del (p.Asn83fs) rs1553264036
NM_014875.3(KIF14):c.2480_2482del (p.Val827del) rs1553259539
NM_014875.3(KIF14):c.2545C>G (p.His849Asp) rs1553259528
NM_014875.3(KIF14):c.263T>A (p.Leu88Ter) rs1553264033
NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val) rs981349334
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=) rs1553254322
NM_014875.3(KIF14):c.4432del (p.Ser1478fs) rs1553253022
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) rs1559310284
NM_014905.5(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) rs1558972120
NM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp) rs1553924800
NM_015047.3(EMC1):c.2602G>A (p.Gly868Arg) rs869320626
NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs) rs869320624
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) rs1779473650
NM_015076.5(CDK19):c.82G>A (p.Gly28Arg) rs1783519120
NM_015076.5(CDK19):c.82G>C (p.Gly28Arg) rs1783519120
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) rs1783518295
NM_015076.5(CDK19):c.94T>C (p.Tyr32His) rs1236246272
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_015114.3(ANKLE2):c.1891+1701_2615+14delinsA
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp) rs1185537869
NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)
NM_015176.4(FBXO28):c.1042C>G (p.Arg348Gly) rs2102638590
NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) rs1553292987
NM_015176.4(FBXO28):c.1066_1067del (p.Asp356fs) rs2102638612
NM_015176.4(FBXO28):c.1078A>T (p.Lys360Ter) rs2102638631
NM_015176.4(FBXO28):c.191T>G (p.Leu64Arg) rs2102604634
NM_015176.4(FBXO28):c.972_973delinsG (p.Arg325fs) rs2102638530
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015213.4(DENND5A):c.2547del (p.Lys850fs) rs1057519308
NM_015213.4(DENND5A):c.3811del (p.Gln1271fs) rs1057519310
NM_015213.4(DENND5A):c.517_518del (p.Asp173fs) rs1057519307
NM_015261.3(NCAPD3):c.1783del (p.Val595fs) rs1555139372
NM_015261.3(NCAPD3):c.3458A>C (p.Glu1153Ala) rs1350194762
NM_015261.3(NCAPD3):c.382+14A>G rs1555143325
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015341.5(NCAPH):c.728C>T (p.Pro243Leu) rs1553446603
NM_015465.5(GEMIN5):c.1602C>A (p.Tyr534Ter) rs2113491837
NM_015465.5(GEMIN5):c.2738A>G (p.His913Arg) rs2113468939
NM_015465.5(GEMIN5):c.282G>A (p.Trp94Ter) rs2113520828
NM_015465.5(GEMIN5):c.2998T>C (p.Ser1000Pro) rs1763459819
NM_015465.5(GEMIN5):c.3356T>C (p.Leu1119Ser) rs2113459584
NM_015465.5(GEMIN5):c.3856T>A (p.Tyr1286Asn) rs2113452099
NM_015466.4(PTPN23):c.1902C>G (p.Asn634Lys) rs748130198
NM_015466.4(PTPN23):c.2568_2594del (p.Val857_Pro865del) rs779096974
NM_015466.4(PTPN23):c.2974del (p.Leu992fs) rs1705261594
NM_015466.4(PTPN23):c.3586C>T (p.Arg1196Ter) rs151119137
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del) rs751809435
NM_015466.4(PTPN23):c.3995G>T (p.Arg1332Leu) rs730882229
NM_015466.4(PTPN23):c.4651_4652dup (p.Leu1552fs) rs1576235873
NM_015509.4(NECAP1):c.301+1G>A rs1947531929
NM_015557.3(CHD5):c.3419A>T (p.Asn1140Ile) rs2100846484
NM_015557.3(CHD5):c.4171+1G>C rs2100843382
NM_015557.3(CHD5):c.578G>A (p.Arg193Gln) rs1667056923
NM_015557.3(CHD5):c.612dup (p.Ser205fs) rs2100868745
NM_015557.3(CHD5):c.940G>T (p.Glu314Ter) rs754586094
NM_015703.5(RRP7A):c.465G>C (p.Trp155Cys) rs1356719738
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg) rs730882219
NM_015721.3(GEMIN4):c.314C>T (p.Pro105Leu)
NM_015836.4(WARS2):c.134G>T (p.Gly45Val) rs1553241795
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del) rs772867219
NM_015836.4(WARS2):c.325del (p.Ser109fs) rs1253426801
NM_015836.4(WARS2):c.532G>C (p.Val178Leu) rs912133959
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)
NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)
NM_015958.3(DPH5):c.779A>G (p.His260Arg)
NM_015959.4(TMX2):c.391dup (p.Leu131fs) rs1274824614
NM_015959.4(TMX2):c.609_614+15del rs1209396791
NM_015959.4(TMX2):c.757C>T (p.Arg253Ter) rs752744834
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro) rs1943259006
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) rs1562848142
NM_016207.4(CPSF3):c.1403G>A (p.Gly468Glu) rs765749321
NM_016238.3(ANAPC7):c.409-2478_818-89del
NM_016263.4(FZR1):c.559G>A (p.Asp187Asn)
NM_016263.4(FZR1):c.560A>G (p.Asp187Gly)
NM_016263.4(FZR1):c.999C>A (p.Asn333Lys)
NM_016263.4(FZR1):c.999C>G (p.Asn333Lys)
NM_016373.3(WWOX):c.-366-?_516+?del
NM_016373.4(WWOX):c.1005G>A (p.Trp335Ter) rs730880290
NM_016373.4(WWOX):c.140C>G (p.Pro47Arg) rs730880292
NM_016373.4(WWOX):c.46_49del (p.Asp16fs) rs730880291
NM_016373.4(WWOX):c.516+62335_517-3413del
NM_016373.4(WWOX):c.517-44258_606-268del
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile) rs1553232770
NM_016406.4(UFC1):c.68G>A (p.Arg23Gln) rs1181612302
NM_016824.5(ADD3):c.[1588G>A;86A>G]
NM_017667.4(VPS50):c.1823_1825del (p.Thr608del) rs2116989385
NM_017667.4(VPS50):c.1978-1G>T rs745695719
NM_017668.3(NDE1):c.-43-3548_83+622del
NM_017668.3(NDE1):c.54G>A (p.Trp18Ter) rs2151436194
NM_017668.3(NDE1):c.684_685del (p.Pro229fs) rs756206942
NM_017668.3(NDE1):c.733dup (p.Leu245fs) rs749768828
NM_017668.3(NDE1):c.83+1G>T rs1456594953
NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs) rs2152419456
NM_017736.5(THUMPD1):c.495dup (p.Ser166fs) rs2152417882
NM_017736.5(THUMPD1):c.634dup (p.Glu212fs) rs2152417708
NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del) rs772419789
NM_017864.4(INTS8):c.2917_2925del (p.Glu973_Leu975del) rs1586540615
NM_017864.4(INTS8):c.893A>G (p.Asp298Gly) rs1586479593
NM_017871.6(INTS11):c.1240C>T (p.His414Tyr)
NM_017871.6(INTS11):c.1543G>A (p.Val515Met)
NM_017871.6(INTS11):c.163G>A (p.Gly55Ser)
NM_017871.6(INTS11):c.412C>T (p.Leu138Phe)
NM_017871.6(INTS11):c.50G>T (p.Arg17Leu)
NM_017951.5(SMPD4):c.1356_1362del (p.Leu453fs) rs1573664291
NM_017951.5(SMPD4):c.1453+1G>A rs1391542283
NM_017951.5(SMPD4):c.345+1G>T rs780446128
NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter) rs1573728266
NM_018130.3(SHQ1):c.828_831del (p.Asp277fs) rs571329853
NM_018130.3(SHQ1):c.874G>A (p.Glu292Lys) rs1420754646
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) rs199422139
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.9159del (p.Lys3053fs) rs199422184
NM_018149.7(SMG8):c.441dup (p.Val148fs) rs2147863799
NM_018149.7(SMG8):c.623A>G (p.His208Arg) rs2147863904
NM_018245.3(OGDHL):c.1464T>C (p.Val488=) rs2133028735
NM_018245.3(OGDHL):c.2018G>A (p.Arg673Gln) rs1462948301
NM_018245.3(OGDHL):c.2554C>G (p.Pro852Ala) rs2132944661
NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly) rs924975413
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter) rs199422126
NM_018249.6(CDK5RAP2):c.4005-15A>G rs387906274
NM_018249.6(CDK5RAP2):c.4604+1G>C rs869025200
NM_018249.6(CDK5RAP2):c.700G>T (p.Glu234Ter) rs398122971
NM_018275.5(TRAPPC14):c.613G>T (p.Glu205Ter) rs149225624
NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser) rs2127584790
NM_018425.4(PI4K2A):c.65C>A (p.Ser22Ter)
NM_018425.4(PI4K2A):c.925C>T (p.Arg309Ter)
NM_018451.5(CENPJ):c.18del (p.Ser7fs) rs199422202
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val) rs121434311
NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu) rs398122938
NM_018684.4(ZC4H2):c.197T>A (p.Leu66His) rs1057520297
NM_018684.4(ZC4H2):c.225+5G>A rs1057520298
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser) rs398122939
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp) rs879255236
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg) rs1929002470
NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter) rs114678203
NM_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter) rs2154580601
NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu) rs1320329216
NM_018928.3(PCDHGC4):c.324del (p.Phe108fs) rs2154580433
NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu) rs1013540105
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.5(MAGEL2):c.1652del (p.Val551fs) rs398122415
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) rs398122416
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2118del (p.Leu708fs) rs1555374227
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs) rs398122417
NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter) rs786205510
NM_019613.4(WDR45B):c.799C>T (p.Gln267Ter) rs1555647262
NM_020338.4(ZMIZ1):c.1386dup (p.Thr463fs) rs1589590917
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020338.4(ZMIZ1):c.3097-2A>G rs1589627138
NM_020338.4(ZMIZ1):c.3112dup (p.Thr1038fs) rs1589627206
NM_020338.4(ZMIZ1):c.887C>A (p.Thr296Lys) rs1589579476
NM_020338.4(ZMIZ1):c.899C>T (p.Thr300Met) rs1589579500
NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr) rs724159997
NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter) rs724159976
NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs) rs727502807
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) rs863225306
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_020971.3(SPTBN4):c.2709G>A (p.Trp903Ter) rs864309618
NM_020971.3(SPTBN4):c.3820G>T (p.Glu1274Ter) rs1555818396
NM_020971.3(SPTBN4):c.7453del (p.Ala2485fs) rs1555721549
NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly) rs587777055
NM_020988.3(GNAO1):c.572_592del (p.Thr191_Phe197del) rs587777056
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.625C>G (p.Arg209Gly) rs886039494
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) rs797044951
NM_020988.3(GNAO1):c.737A>G (p.Glu246Gly) rs1114167431
NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn) rs587777054
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) rs587777491
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) rs587777493
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) rs587777494
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) rs1057521989
NM_021096.4(CACNA1I):c.2579T>A (p.Ile860Asn)
NM_021096.4(CACNA1I):c.2580C>G (p.Ile860Met)
NM_021096.4(CACNA1I):c.3917T>C (p.Ile1306Thr) rs879255418
NM_021096.4(CACNA1I):c.4275G>A (p.Met1425Ile)
NM_021222.3(PRUNE1):c.160C>A (p.Pro54Thr) rs1085308033
NM_021222.3(PRUNE1):c.50dup (p.Leu18fs)
NM_021222.3(PRUNE1):c.515T>C (p.Leu172Pro)
NM_021222.3(PRUNE1):c.521-2A>G rs886039608
NM_021222.3(PRUNE1):c.540T>A (p.Cys180Ter)
NM_021222.3(PRUNE1):c.889C>T (p.Arg297Trp) rs752599948
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter) rs774833524
NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser) rs1758880343
NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro) rs1747594790
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) rs1790057505
NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys) rs1790058081
NM_021956.5(GRIK2):c.1979C>G (p.Thr660Arg) rs1790058081
NM_022080.3(NAPB):c.173G>A (p.Trp58Ter) rs1984959750
NM_022080.3(NAPB):c.421-1G>A rs1983849974
NM_022080.3(NAPB):c.479C>A (p.Ser160Ter) rs876661300
NM_022095.4(ZNF335):c.1399T>C (p.Cys467Arg) rs1568822376
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del) rs773283542
NM_022095.4(ZNF335):c.3332G>A (p.Arg1111His) rs397514642
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) rs746341112
NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg) rs1890625577
NM_024496.4(IRF2BPL):c.1115C>G (p.Pro372Arg) rs1555377336
NM_024496.4(IRF2BPL):c.1254G>C (p.Lys418Asn) rs201073695
NM_024496.4(IRF2BPL):c.376C>T (p.Gln126Ter) rs1555377483
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter) rs1292724234
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024496.4(IRF2BPL):c.962del (p.Ala321fs) rs1566786207
NM_024596.5(MCPH1):c.147C>G (p.His49Gln) rs1488084787
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039
NM_024706.5(ZNF668):c.955C>T (p.Gln319Ter) rs2143756208
NM_024818.6(UBA5):c.1165G>T (p.Asp389Tyr) rs886039760
NM_024818.6(UBA5):c.164G>A (p.Arg55His) rs774318611
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu) rs886039761
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.778G>A (p.Val260Met) rs886039759
NM_024818.6(UBA5):c.855C>A (p.Tyr285Ter) rs745968949
NM_024818.6(UBA5):c.904C>T (p.Gln302Ter) rs886039757
NM_024818.6(UBA5):c.971_972insC (p.Lys324fs) rs886039758
NM_025009.5(CEP135):c.1473+1G>A rs1085307120
NM_025009.5(CEP135):c.970del (p.Gln324fs) rs202247811
NM_030630.3(HID1):c.2318dup (p.Val774fs) rs2039300041
NM_030630.3(HID1):c.560G>A (p.Gly187Asp) rs2039494684
NM_030650.3(LNPK):c.726del (p.Pro243fs) rs1553498948
NM_030948.6(PHACTR1):c.1436A>T (p.Asn479Ile) rs1562103192
NM_030948.6(PHACTR1):c.1499T>C (p.Leu500Pro) rs1562114406
NM_031263.4(HNRNPK):c.1361+1G>A
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.257+5G>A
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) rs1564063967
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer) rs886041807
NM_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs) rs879255263
NM_031263.4(HNRNPK):c.953+1dup rs863223402
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) rs1554698681
NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) rs1057524916
NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) rs1057524914
NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) rs1057524915
NM_032125.3(TMEM222):c.207dup (p.Ile70fs) rs2148016438
NM_032125.3(TMEM222):c.334C>T (p.Gln112Ter) rs774049520
NM_032125.3(TMEM222):c.535_537del (p.Val179del) rs2148019133
NM_032125.3(TMEM222):c.539+2T>C rs2148019138
NM_032141.4(NSRP1):c.1272dup (p.Lys425fs) rs1485203990
NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs) rs2143011593
NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter) rs2151869859
NM_032242.4(PLXNA1):c.1574_1575del (p.Leu525fs) rs2079056783
NM_032242.4(PLXNA1):c.2446T>C (p.Cys816Arg) rs2079109807
NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro) rs2107620082
NM_032360.4(ACBD6):c.187G>T (p.Glu63Ter)
NM_032360.4(ACBD6):c.360dup (p.Leu121fs) rs1412804743
NM_032360.4(ACBD6):c.474del (p.Asp159fs)
NM_032360.4(ACBD6):c.484_488del (p.Asn161_Ile162insTer)
NM_032360.4(ACBD6):c.574-2A>G rs765369140
NM_032360.4(ACBD6):c.82dup (p.Val28fs)
NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp) rs1589568476
NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr) rs1589576879
NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr) rs1589440982
NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly) rs1589441229
NM_032536.4(NTNG2):c.376dup (p.Ser126fs) rs1589441428
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr) rs1589441679
NM_032635.4(TMEM147):c.169_172del (p.Phe57fs)
NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)
NM_032635.4(TMEM147):c.344+5G>A
NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn)
NM_032635.4(TMEM147):c.496C>T (p.Arg166Trp)
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.1399C>T (p.Leu467=) rs149331610
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys) rs1971791380
NM_032737.4(LMNB2):c.160A>C (p.Asn54His) rs1972096108
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter) rs1644265859
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr) rs1360472871
NM_032756.4(HPDL):c.256del (p.Ala86fs) rs753787033
NM_032756.4(HPDL):c.342_343insTGCC (p.Ala115fs) rs1644248782
NM_032756.4(HPDL):c.353dup (p.Tyr118Ter) rs2149081651
NM_032756.4(HPDL):c.527T>C (p.Leu176Pro) rs773333490
NM_032756.4(HPDL):c.537G>C (p.Trp179Cys) rs1644253602
NM_032756.4(HPDL):c.779G>A (p.Gly260Glu) rs758290491
NM_032756.4(HPDL):c.954dup (p.Gly319fs) rs2149082294
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs) rs2124782476
NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met) rs1057517688
NM_032793.5(MFSD2A):c.556+1G>A rs758953000
NM_032793.5(MFSD2A):c.750_753del (p.Cys251fs) rs1278119822
NM_032805.3(ZSCAN10):c.1112del (p.Pro371fs)
NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter)
NM_032805.3(ZSCAN10):c.1456C>T (p.Gln486Ter)
NM_032805.3(ZSCAN10):c.2050del (p.His684fs)
NM_032892.5(FRMD5):c.1051A>G (p.Ser351Gly)
NM_032892.5(FRMD5):c.1053C>G (p.Ser351Arg) rs2140355031
NM_032892.5(FRMD5):c.1054T>C (p.Cys352Arg) rs2140355019
NM_032892.5(FRMD5):c.1060T>C (p.Ser354Pro)
NM_032892.5(FRMD5):c.1637A>G (p.Tyr546Cys) rs1006096376
NM_033453.4(ITPA):c.264-607_295+1267del
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_080552.3(SLC32A1):c.806T>A (p.Leu269Gln)
NM_080552.3(SLC32A1):c.965T>G (p.Phe322Cys) rs2145650130
NM_133444.3(ZNF526):c.1227C>G (p.His409Gln) rs1201644078
NM_133444.3(ZNF526):c.1512_1513del (p.Cys505fs) rs754536246
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) rs730882205
NM_133444.3(ZNF526):c.907_908insT (p.His303fs) rs2146930042
NM_138376.3(TTC5):c.599del (p.Pro200fs) rs2138814108
NM_138376.3(TTC5):c.629A>G (p.Tyr210Cys) rs2138814053
NM_138572.3(TAF8):c.45+4A>G rs2127446222
NM_138615.3(DHX30):c.1478G>A (p.Arg493His) rs1057519436
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_138615.3(DHX30):c.2342G>A (p.Gly781Asp) rs1553706775
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) rs753242774
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_138615.3(DHX30):c.2354G>A (p.Arg785His) rs1553706799
NM_138615.3(DHX30):c.2389C>T (p.Arg797Ter)
NM_138961.3(ESAM):c.115del (p.Arg39fs)
NM_138961.3(ESAM):c.287del (p.Pro96fs)
NM_138961.3(ESAM):c.35T>A (p.Leu12Ter)
NM_138961.3(ESAM):c.451+1G>A
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) rs1556056125
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139137.4(KCNC2):c.1052G>A (p.Arg351Lys) rs2136944684
NM_139137.4(KCNC2):c.1309A>G (p.Thr437Ala) rs2136943757
NM_139137.4(KCNC2):c.1411G>C (p.Val471Leu) rs2136943353
NM_139137.4(KCNC2):c.375C>G (p.Cys125Trp) rs61735712
NM_139137.4(KCNC2):c.404A>G (p.Glu135Gly) rs2137828445
NM_139137.4(KCNC2):c.499G>T (p.Asp167Tyr) rs2137827783
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_144508.5(KNL1):c.5184dup (p.Ile1729fs) rs863225127
NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile) rs763915472
NM_144572.2(TBC1D2B):c.1480C>T (p.Gln494Ter) rs773764751
NM_144572.2(TBC1D2B):c.2295C>G (p.Tyr765Ter) rs2141643586
NM_144572.2(TBC1D2B):c.2378T>A (p.Leu793Ter) rs2141643269
NM_144572.2(TBC1D2B):c.426dup (p.Asn143Ter) rs2141805160
NM_144572.2(TBC1D2B):c.658_659del (p.Leu220fs) rs2141771878
NM_145246.5(FRA10AC1):c.328C>T (p.Arg110Ter)
NM_145246.5(FRA10AC1):c.481C>T (p.Arg161Ter)
NM_145246.5(FRA10AC1):c.491AAG[1] (p.Glu165del)
NM_145246.5(FRA10AC1):c.561_562insTTTA (p.Ser188fs)
NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer) rs730882152
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) rs1557762729
NM_152296.5(ATP1A3):c.1081T>C (p.Ser361Pro) rs2145972497
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.5(ATP1A3):c.875T>G (p.Leu292Arg) rs2145977887
NM_152296.5(ATP1A3):c.947G>T (p.Gly316Val) rs2145977758
NM_152743.4(BRAT1):c.1177del (p.Ala393fs) rs727505365
NM_152743.4(BRAT1):c.171del (p.Glu57fs) rs1554297097
NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro) rs727505363
NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) rs1085307958
NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs) rs1554296088
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.962_963del (p.Leu321fs) rs727505364
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val) rs397515420
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) rs74315392
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) rs730882174
NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val) rs730882176
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) rs727502819
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg) rs727502821
NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe) rs727502820
NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn) rs727502822
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) rs786205160
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) rs786205161
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) rs786205163
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) rs786205159
NM_173582.6(PGM2L1):c.1115del (p.Asn372fs) rs2134888290
NM_173582.6(PGM2L1):c.1282G>T (p.Glu428Ter) rs767118518
NM_173582.6(PGM2L1):c.1548_1549del (p.Pro517fs)
NM_173582.6(PGM2L1):c.172C>T (p.Arg58Ter)
NM_173582.6(PGM2L1):c.51del (p.Tyr18fs) rs2134963520
NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs) rs863225447
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.5(SLC13A5):c.1570G>C (p.Asp524His) rs863225448
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_177559.3(CSNK2A1):c.149A>C (p.Tyr50Ser) rs869312849
NM_177559.3(CSNK2A1):c.1A>G (p.Met1Val) rs1568532361
NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His) rs1568512728
NM_177559.3(CSNK2A1):c.524A>G (p.Asp175Gly) rs869312848
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177559.3(CSNK2A1):c.824+2T>C rs869312846
NM_182641.4(BPTF):c.209dup (p.Ser71fs) rs1259365489
NM_182641.4(BPTF):c.2482dup (p.Glu828fs) rs1555639411
NM_182641.4(BPTF):c.4838_4839del (p.Val1613fs) rs1555652383
NM_182641.4(BPTF):c.8609T>G (p.Met2870Arg) rs782736894
NM_182641.4(BPTF):c.8701A>T (p.Lys2901Ter) rs1555693714
NM_182641.4(BPTF):c.989del (p.Leu330fs) rs1135401778
NM_182710.3(KAT5):c.1204T>A (p.Cys402Ser) rs1857215256
NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala) rs1857290083
NM_182710.3(KAT5):c.257G>A (p.Arg86His) rs1857071943
NM_183357.3(ADCY5):c.1947+1G>T rs2108384208
NM_183357.3(ADCY5):c.3712C>T (p.Arg1238Trp) rs2108148749
NM_183381.3(RNF13):c.932T>C (p.Leu311Ser) rs1559980771
NM_183381.3(RNF13):c.935T>C (p.Leu312Pro) rs1559980785
NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) rs876661307
NM_194292.3(SASS6):c.1867+2T>A rs1651181046
NM_198503.5(KCNT2):c.143_144del (p.Leu48fs) rs1572630269
NM_198503.5(KCNT2):c.1690A>T (p.Lys564Ter) rs1572096837
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro) rs1572547466
NM_198503.5(KCNT2):c.720T>A (p.Phe240Leu) rs1060499537
NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn) rs1572418357
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser) rs796052508
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_199342.4(SVBP):c.39_42del (p.Lys13fs) rs1570520229
NM_199342.4(SVBP):c.82C>T (p.Gln28Ter) rs1570520175
NM_203446.3(SYNJ1):c.1821del (p.Gln608fs) rs1057524879
NM_203446.3(SYNJ1):c.2411G>A (p.Trp804Ter) rs1057524878
NM_203446.3(SYNJ1):c.2546A>G (p.Tyr849Cys) rs1057524877
NM_203446.3(SYNJ1):c.3248-2A>G rs1057524880
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) rs1553122926
NM_206538.4(EMC10):c.188-2A>C
NM_206538.4(EMC10):c.259C>T (p.Gln87Ter)
NM_206538.4(EMC10):c.287del (p.Gly96fs) rs770255014
NM_206538.4(EMC10):c.289C>T (p.Arg97Ter) rs765552403
NM_206538.4(EMC10):c.543dup (p.Asn182fs)
NM_206538.4(EMC10):c.66del (p.Ser23fs)
NM_206538.4(EMC10):c.679-1G>A rs2122664852
NR0B1, 1-BP INS, 430G
NR_003137.3(RNU4-2):n.64_65insT
NR_023343.3(RNU4ATAC):n.50G>A rs181195449
NR_023343.3(RNU4ATAC):n.53C>G rs180755563
NR_023343.3(RNU4ATAC):n.55G>A rs575472572
PCNT, 486-BP DEL, NT84
nsv1067873

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