ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 920
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535 0.02396
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_016097.5(IER3IP1):c.*58T>C rs150586939 0.00406
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) rs145873257 0.00156
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487 0.00155
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_018723.4(RBFOX1):c.677-5C>T rs147023054 0.00077
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111 0.00016
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys) rs202020647 0.00014
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994 0.00010
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn) rs755440336 0.00006
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384 0.00006
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) rs190706099 0.00006
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln) rs774195502 0.00005
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) rs200965749 0.00004
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val) rs758906955 0.00004
NM_020361.5(CPA6):c.587A>G (p.His196Arg) rs376266840 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474 0.00002
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733 0.00002
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622 0.00002
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg) rs74315443 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001134407.3(GRIN2A):c.2289T>G (p.Ile763Met) rs1903130042 0.00001
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer) rs2093893902 0.00001
NM_001242896.3(DEPDC5):c.-57G>C rs1383795440 0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) rs768456731 0.00001
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224 0.00001
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val) rs747241860 0.00001
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp) rs752473314 0.00001
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305 0.00001
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val) rs1306918506 0.00001
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) rs748723710 0.00001
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) rs766294629 0.00001
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046 0.00001
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) rs764802895 0.00001
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter) rs1422381117 0.00001
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005670.4(EPM2A):c.301+1G>T rs1361221383 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter) rs796052414 0.00001
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met) rs372761949 0.00001
NM_020822.3(KCNT1):c.2012C>T (p.Thr671Ile) rs1832838063 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys) rs141191660 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NC_000001.10:g.(?_205022314)_(205042893_?)del
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]
NC_000004.11:g.(?_76481293)_(77700330_?)del
NC_000004.12:g.76163382CT[1]
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]
NC_000006.11:g.(?_145948552)_(145956642_?)del
NC_000006.11:g.(?_146056334)_(146056634_?)del
NC_000006.11:g.(?_18121650)_(18149358_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000007.13:g.(?_66094052)_(66104219_?)del
NC_000007.13:g.(?_66103220)_(66104219_?)del
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NC_000008.10:g.119379055_119379157TGAAA[100_?]TAAAA[40_?]
NC_000008.10:g.119379055_119379157TGAAA[149]TAAAA[446]
NC_000010.10:g.(?_78998319)_(79163801_?)del
NC_000010.10:g.(?_95517882)_(95537394_?)del
NC_000010.10:g.(?_95517902)_(95518136_?)del
NC_000010.11:g.(93704377_?)_(?_93785620)del
NC_000010.11:g.(?_93161309)_(93797823_?)del
NC_000016.10:g.(?_100352)_(100529_?)del
NC_000016.10:g.(?_130502)_(130611_?)del
NC_000016.10:g.(?_130502)_(138287_?)del
NC_000016.10:g.(?_138130)_(138287_?)del
NC_000016.10:g.(?_89693)_(100529_?)del
NC_000016.10:g.(?_9798257)_(9849981_?)del
NC_000016.10:g.(?_98125)_(100529_?)del
NC_000016.10:g.(?_9829403)_(9829672_?)del
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(10180431_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.10:g.92726del rs2141908063
NC_000016.9:g.(?_10031796)_(10032428_?)del
NC_000016.9:g.(?_10273835)_(10274268_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_10273845)_(10274268_?)del
NC_000016.9:g.(?_136684)_(162794_?)del
NC_000016.9:g.(?_136684)_(169274_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_136705)_(139740_?)del
NC_000016.9:g.(?_138677)_(143343_?)del
NC_000016.9:g.(?_138677)_(188286_?)del
NC_000016.9:g.(?_142574)_(150527_?)del
NC_000016.9:g.(?_142584)_(188266_?)del
NC_000016.9:g.(?_143197)_(150527_?)del
NC_000016.9:g.(?_143302)_(152085_?)del
NC_000016.9:g.(?_148123)_(188286_?)del
NC_000016.9:g.(?_148133)_(188266_?)del
NC_000016.9:g.(?_150360)_(150517_?)del
NC_000016.9:g.(?_160503)_(160624_?)del
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_160503)_(180610_?)del
NC_000016.9:g.(?_160503)_(188266_?)del
NC_000016.9:g.(?_160513)_(180600_?)del
NC_000016.9:g.(?_162601)_(162794_?)del
NC_000016.9:g.(?_162601)_(188266_?)del
NC_000016.9:g.(?_167290)_(188266_?)del
NC_000016.9:g.(?_169105)_(188266_?)del
NC_000016.9:g.(?_169115)_(169264_?)del
NC_000016.9:g.(?_188129)_(188266_?)del
NC_000016.9:g.(?_188129)_(193701_?)del
NC_000016.9:g.(?_9857006)_(10032428_?)del
NC_000016.9:g.(?_9857006)_(10274268_?)del
NC_000016.9:g.(?_9857006)_(9862956_?)del
NC_000016.9:g.(?_9916101)_(9923529_?)dup
NC_000016.9:g.(?_9916111)_(9916291_?)del
NC_000016.9:g.(?_9934484)_(9934981_?)del
NC_000016.9:g.(?_9984833)_(9984967_?)del
NC_000017.10:g.(?_44845686)_(45016126_?)del
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000021.8:g.(?_43160998)_(47754702_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NC_000021.8:g.(?_45194083)_(45196150_?)del
NC_000022.10:g.(?_32150888)_(32162674_?)del
NC_000022.10:g.(?_32150888)_(32164869_?)del
NC_000022.10:g.(?_32150888)_(32188823_?)del
NC_000022.10:g.(?_32150908)_(32156708_?)del
NC_000022.10:g.(?_32150908)_(32164869_?)del
NC_000022.10:g.(?_32150908)_(32174174_?)del
NC_000022.10:g.(?_32150908)_(32193709_?)del
NC_000022.10:g.(?_32150908)_(32211218_?)del
NC_000022.10:g.(?_32150908)_(32293659_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32160941)_(32161066_?)del
NC_000022.10:g.(?_32164780)_(32164869_?)del
NC_000022.10:g.(?_32174065)_(32180881_?)del
NC_000022.10:g.(?_32179873)_(32179991_?)del
NC_000022.10:g.(?_32179873)_(32193709_?)del
NC_000022.10:g.(?_32180780)_(32302503_?)del
NC_000022.10:g.(?_32187999)_(32188823_?)del
NC_000022.10:g.(?_32188019)_(32194642_?)del
NC_000022.10:g.(?_32188404)_(32191244_?)del
NC_000022.10:g.(?_32193566)_(32194662_?)del
NC_000022.10:g.(?_32205577)_(32206647_?)del
NC_000022.10:g.(?_32229881)_(32257439_?)del
NC_000022.10:g.(?_32234651)_(32234851_?)del
NC_000022.10:g.(?_32239061)_(32239818_?)del
NC_000022.10:g.(?_32239061)_(32241243_?)del
NC_000022.10:g.(?_32301950)_(32302483_?)del
NC_000022.10:g.(?_32301960)_(32302483_?)del
NC_000022.11:g.(?_31754902)_(31784895_?)del
NC_000022.11:g.(?_31754902)_(31815232_?)del
NC_000022.11:g.(?_31754902)_(31815449_?)del
NC_000022.11:g.(?_31754902)_(31906517_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31760636)_(31760722_?)del
NC_000022.11:g.(?_31764955)_(31766688_?)del
NC_000022.11:g.(?_31764955)_(31768883_?)dup
NC_000022.11:g.(?_31792013)_(31792122_?)del
NC_000022.11:g.(?_31804142)_(31810661_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NC_000022.11:g.31804164_31804174dup
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]
NM_000100.4(CSTB):c.121del (p.Val41fs) rs1257171692
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) rs1554514507
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_001003787.4(STRADA):c.179G>T (p.Ser60Ile) rs56271007
NM_001003787.4(STRADA):c.190C>T (p.Pro64Ser) rs55695051
NM_001003787.4(STRADA):c.403G>A (p.Ala135Thr) rs1555699052
NM_001039476.1(NPRL3):c.931=
NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg) rs1553574522
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs) rs1898837245
NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) rs886037962
NM_001077350.3(NPRL3):c.1078del (p.Asp360fs)
NM_001077350.3(NPRL3):c.1093del (p.Ala366fs)
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter) rs1371859768
NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)
NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter) rs2141902592
NM_001077350.3(NPRL3):c.1178dup (p.Met393fs) rs2141902589
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs) rs1898686157
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter) rs1898688345
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs) rs1898687282
NM_001077350.3(NPRL3):c.1255G>T (p.Glu419Ter)
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs) rs1898675878
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC rs886037959
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs) rs1898627430
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) rs886037960
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)
NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter) rs2141899833
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs) rs1555439541
NM_001077350.3(NPRL3):c.15del (p.Ser6fs) rs2141995568
NM_001077350.3(NPRL3):c.169G>T (p.Glu57Ter)
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter) rs1900181500
NM_001077350.3(NPRL3):c.258del (p.Lys87fs) rs2141960699
NM_001077350.3(NPRL3):c.269del (p.Asn90fs)
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.280del (p.Val94fs) rs2141960644
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077350.3(NPRL3):c.316C>T (p.Gln106Ter) rs1215657187
NM_001077350.3(NPRL3):c.318+1G>A rs2141960559
NM_001077350.3(NPRL3):c.341del (p.Pro114fs) rs1596526976
NM_001077350.3(NPRL3):c.349del (p.Glu117fs) rs1900088045
NM_001077350.3(NPRL3):c.377del (p.Val126fs) rs1596526915
NM_001077350.3(NPRL3):c.419dup (p.Asn140fs) rs2141950334
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)
NM_001077350.3(NPRL3):c.44del (p.Ser15fs) rs1901211202
NM_001077350.3(NPRL3):c.460C>T (p.Gln154Ter) rs2141950212
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter) rs1899868619
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter) rs1596522300
NM_001077350.3(NPRL3):c.518dup (p.Gln174fs) rs2141950064
NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)
NM_001077350.3(NPRL3):c.562C>T (p.Gln188Ter)
NM_001077350.3(NPRL3):c.622del (p.Tyr208fs) rs2141946070
NM_001077350.3(NPRL3):c.644del (p.Gly215fs) rs1899234101
NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)
NM_001077350.3(NPRL3):c.726dup (p.Ile243fs) rs2141925225
NM_001077350.3(NPRL3):c.745G>T (p.Glu249Ter) rs200041907
NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)
NM_001077350.3(NPRL3):c.767+1G>T rs1567134495
NM_001077350.3(NPRL3):c.767+1del rs2141925052
NM_001077350.3(NPRL3):c.781del (p.Leu261fs)
NM_001077350.3(NPRL3):c.78C>A (p.Tyr26Ter) rs2141995468
NM_001077350.3(NPRL3):c.799G>T (p.Glu267Ter)
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs) rs886037958
NM_001077350.3(NPRL3):c.85C>T (p.Gln29Ter)
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter) rs2141920098
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His) rs1596505517
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter) rs1898844513
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter) rs1596500172
NM_001077350.3(NPRL3):c.975del (p.Tyr326fs)
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg) rs1577418477
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>T rs397518465
NM_001134407.3(GRIN2A):c.1045_1051del (p.Ser349fs)
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) rs2043685576
NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter) rs1555501093
NM_001134407.3(GRIN2A):c.1123-1G>A rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1123-2A>T
NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter) rs1555496202
NM_001134407.3(GRIN2A):c.1194del (p.Cys399fs) rs2141369731
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) rs2042851617
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) rs2042850660
NM_001134407.3(GRIN2A):c.1285T>C (p.Cys429Arg)
NM_001134407.3(GRIN2A):c.1289_1292dup (p.Arg431fs)
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter) rs774228933
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1475_1478del (p.Val492fs)
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>T rs2141344569
NM_001134407.3(GRIN2A):c.1497+2T>C rs2042665950
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) rs267604688
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) rs1555494686
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1639T>C (p.Ser547Pro)
NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del) rs1555494676
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) rs1596483044
NM_001134407.3(GRIN2A):c.1651+2T>A rs2141341781
NM_001134407.3(GRIN2A):c.1651G>T (p.Glu551Ter)
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_001134407.3(GRIN2A):c.1691T>G (p.Met564Arg) rs2141325573
NM_001134407.3(GRIN2A):c.1702del (p.Val568fs) rs2141325493
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1747G>T (p.Gly583Ter)
NM_001134407.3(GRIN2A):c.1790del (p.Pro597fs)
NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter) rs1555492790
NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met) rs2141312814
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1847C>T (p.Ser616Phe)
NM_001134407.3(GRIN2A):c.1871_1884del (p.Gly624fs)
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) rs2042447850
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2008-1G>A
NM_001134407.3(GRIN2A):c.2023_2027del (p.Asp675fs)
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys) rs1445802934
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2079C>G (p.Asn693Lys)
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) rs1555491654
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2169-1G>C rs2141231277
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) rs1903138230
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu) rs1439688451
NM_001134407.3(GRIN2A):c.2224del (p.Asp742fs)
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2526C>G (p.Tyr842Ter)
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe) rs1555482933
NM_001134407.3(GRIN2A):c.2776del (p.Gln926fs) rs1596377481
NM_001134407.3(GRIN2A):c.2793del (p.Met932fs) rs1596377439
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs) rs2141136701
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3025A>T (p.Arg1009Ter)
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3163del (p.Glu1055fs)
NM_001134407.3(GRIN2A):c.316C>T (p.Gln106Ter)
NM_001134407.3(GRIN2A):c.3304G>T (p.Glu1102Ter)
NM_001134407.3(GRIN2A):c.3609del (p.Ser1204fs)
NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs) rs2141130040
NM_001134407.3(GRIN2A):c.3887del (p.Val1296fs) rs1900702353
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs) rs2141124790
NM_001134407.3(GRIN2A):c.4330del (p.Val1444fs)
NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter) rs1555455815
NM_001134407.3(GRIN2A):c.476del (p.Leu159fs)
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs) rs2050242587
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) rs1596587476
NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter) rs1555455727
NM_001134407.3(GRIN2A):c.59_66del (p.Gly20fs)
NM_001134407.3(GRIN2A):c.645del (p.Gln216fs) rs2141631751
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134407.3(GRIN2A):c.806del (p.Pro269fs)
NM_001134407.3(GRIN2A):c.809_810del (p.Lys270fs)
NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs) rs2141630590
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) rs1555455620
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) rs1555455618
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) rs1555491538
NM_001161352.2(KCNMA1):c.1284del (p.Leu429fs) rs2153792334
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs) rs2153773364
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs)
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter) rs2065361594
NM_001161352.2(KCNMA1):c.2521del (p.His841fs) rs2152944295
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs) rs2063502424
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys) rs1554966197
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs) rs753408207
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1111G>T (p.Glu371Ter)
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs) rs2087209471
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs) rs879255234
NM_001242896.3(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242896.3(DEPDC5):c.1139del (p.Phe380fs) rs2148649693
NM_001242896.3(DEPDC5):c.1143+2T>C
NM_001242896.3(DEPDC5):c.1155del (p.Ser386fs)
NM_001242896.3(DEPDC5):c.1191T>A (p.Tyr397Ter) rs1320510912
NM_001242896.3(DEPDC5):c.1206G>A (p.Trp402Ter)
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1218-1G>C rs2087504321
NM_001242896.3(DEPDC5):c.1224C>A (p.Tyr408Ter) rs1602010382
NM_001242896.3(DEPDC5):c.1235del (p.Ser412fs)
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1366C>T (p.Gln456Ter) rs2148707379
NM_001242896.3(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242896.3(DEPDC5):c.1397del (p.Val466fs)
NM_001242896.3(DEPDC5):c.1401del (p.Phe467fs) rs2148707724
NM_001242896.3(DEPDC5):c.1431C>A (p.Cys477Ter) rs2148708041
NM_001242896.3(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242896.3(DEPDC5):c.1465_1466del (p.His490fs)
NM_001242896.3(DEPDC5):c.147-2A>C rs2148027312
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1488del (p.Ser497fs)
NM_001242896.3(DEPDC5):c.1493_1500del (p.Cys498fs)
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.158del (p.Leu53fs) rs2148027425
NM_001242896.3(DEPDC5):c.1699C>T (p.Arg567Ter)
NM_001242896.3(DEPDC5):c.1736_1743del (p.Ser579fs) rs2148801562
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.176dup (p.Glu60fs) rs2148027688
NM_001242896.3(DEPDC5):c.1774_1775del (p.Thr592fs)
NM_001242896.3(DEPDC5):c.178del (p.Glu60fs) rs2148027711
NM_001242896.3(DEPDC5):c.1800del (p.Phe601fs) rs2148802008
NM_001242896.3(DEPDC5):c.1834_1835del (p.Ser612fs)
NM_001242896.3(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242896.3(DEPDC5):c.187C>T (p.Gln63Ter) rs372718805
NM_001242896.3(DEPDC5):c.1891C>T (p.Gln631Ter) rs2148821385
NM_001242896.3(DEPDC5):c.193+1G>A rs886039245
NM_001242896.3(DEPDC5):c.1936dup (p.Ser646fs) rs1569012755
NM_001242896.3(DEPDC5):c.1948del (p.Asp650fs)
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs) rs2082694133
NM_001242896.3(DEPDC5):c.2023C>T (p.Gln675Ter)
NM_001242896.3(DEPDC5):c.208_209del (p.Asp70fs) rs2148103087
NM_001242896.3(DEPDC5):c.2094dup (p.Ser699fs) rs2148830445
NM_001242896.3(DEPDC5):c.211C>T (p.Gln71Ter) rs2148103123
NM_001242896.3(DEPDC5):c.212dup (p.Thr72fs) rs2148103177
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs) rs2148103243
NM_001242896.3(DEPDC5):c.2196dup (p.Val733fs) rs2148952560
NM_001242896.3(DEPDC5):c.2275_2281del (p.Tyr759fs) rs2148953095
NM_001242896.3(DEPDC5):c.2304_2305dup (p.Asp769fs) rs2148953333
NM_001242896.3(DEPDC5):c.231_232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.2325T>A (p.Tyr775Ter) rs374158137
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001242896.3(DEPDC5):c.232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.2355-2A>G rs797044545
NM_001242896.3(DEPDC5):c.239_245dup (p.Tyr82Ter)
NM_001242896.3(DEPDC5):c.2433C>A (p.Tyr811Ter)
NM_001242896.3(DEPDC5):c.247C>T (p.Gln83Ter) rs2148103774
NM_001242896.3(DEPDC5):c.2489_2511del (p.Leu830fs) rs2148968890
NM_001242896.3(DEPDC5):c.2489del (p.Leu830fs) rs2148968909
NM_001242896.3(DEPDC5):c.2492_2493insAGA (p.Ser831delinsArgAsp) rs1555897392
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2548dup (p.Asp850fs) rs2149004143
NM_001242896.3(DEPDC5):c.2591_2592insCA (p.Leu865fs)
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.2690C>A (p.Ser897Ter)
NM_001242896.3(DEPDC5):c.2702_2705del (p.Phe901fs)
NM_001242896.3(DEPDC5):c.2768_2775del (p.Gln923fs) rs2149009589
NM_001242896.3(DEPDC5):c.279+1G>A rs886039246
NM_001242896.3(DEPDC5):c.279+1G>C rs886039246
NM_001242896.3(DEPDC5):c.280-1G>A rs1556526609
NM_001242896.3(DEPDC5):c.280-2A>G rs2148127827
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter) rs2091643419
NM_001242896.3(DEPDC5):c.2856T>A (p.Cys952Ter) rs115299174
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs) rs2091645809
NM_001242896.3(DEPDC5):c.2887dup (p.Glu963fs) rs2149024046
NM_001242896.3(DEPDC5):c.2894_2919del (p.His965fs) rs1555900914
NM_001242896.3(DEPDC5):c.2898C>A (p.Cys966Ter) rs748986619
NM_001242896.3(DEPDC5):c.2907T>G (p.Tyr969Ter)
NM_001242896.3(DEPDC5):c.2940G>A (p.Trp980Ter)
NM_001242896.3(DEPDC5):c.2958_2959insTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATGGTTTT (p.Val987delinsPhePhePhePhePheXaaXaaXaaXaaPhePhePhePhePhePhePhePhePheTer) rs2149024566
NM_001242896.3(DEPDC5):c.2989del (p.Arg997fs) rs2149024925
NM_001242896.3(DEPDC5):c.2994del (p.Arg998fs)
NM_001242896.3(DEPDC5):c.3005C>A (p.Ser1002Ter) rs2149025148
NM_001242896.3(DEPDC5):c.3021+2T>G
NM_001242896.3(DEPDC5):c.305dup (p.Leu102fs) rs2148128199
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs) rs2091769406
NM_001242896.3(DEPDC5):c.3159C>A (p.Cys1053Ter) rs1162414657
NM_001242896.3(DEPDC5):c.3176_3177del (p.Ala1059fs)
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter) rs2082841677
NM_001242896.3(DEPDC5):c.3205C>T (p.Gln1069Ter) rs2149117486
NM_001242896.3(DEPDC5):c.324T>G (p.Tyr108Ter) rs2148128349
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3260dup (p.Asp1089fs)
NM_001242896.3(DEPDC5):c.3278_3279del (p.Phe1093fs)
NM_001242896.3(DEPDC5):c.327del (p.Ile109fs) rs2148128390
NM_001242896.3(DEPDC5):c.338del (p.Asp113fs)
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter) rs2092816377
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs) rs886039266
NM_001242896.3(DEPDC5):c.3449_3450del (p.Glu1150fs) rs2149231471
NM_001242896.3(DEPDC5):c.344G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3451C>T (p.Gln1151Ter)
NM_001242896.3(DEPDC5):c.345G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.3547del (p.Ala1183fs) rs1569166925
NM_001242896.3(DEPDC5):c.3564-1G>C
NM_001242896.3(DEPDC5):c.3578del (p.Leu1193fs) rs1309891064
NM_001242896.3(DEPDC5):c.357_358del (p.Ser120fs)
NM_001242896.3(DEPDC5):c.3638G>A (p.Trp1213Ter) rs2149256695
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs) rs2092933941
NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs) rs2092986219
NM_001242896.3(DEPDC5):c.3717dup (p.Ile1240fs) rs2149267082
NM_001242896.3(DEPDC5):c.3723dup (p.His1242fs) rs2149267113
NM_001242896.3(DEPDC5):c.3774C>G (p.Tyr1258Ter)
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.3868C>T (p.Gln1290Ter) rs1569186093
NM_001242896.3(DEPDC5):c.3926del (p.Pro1309fs)
NM_001242896.3(DEPDC5):c.3945G>A (p.Trp1315Ter)
NM_001242896.3(DEPDC5):c.3987_3988insA (p.Phe1330fs)
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4031T>G (p.Leu1344Ter)
NM_001242896.3(DEPDC5):c.4085del (p.Asn1362fs)
NM_001242896.3(DEPDC5):c.4102G>T (p.Glu1368Ter)
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.3(DEPDC5):c.4122C>A (p.Tyr1374Ter) rs939021094
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.4207C>T (p.Gln1403Ter) rs1602903591
NM_001242896.3(DEPDC5):c.4242_4243dup (p.Leu1415fs) rs2149397188
NM_001242896.3(DEPDC5):c.4287C>A (p.Tyr1429Ter)
NM_001242896.3(DEPDC5):c.4290del (p.Tyr1431fs) rs2149397518
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs) rs2093575654
NM_001242896.3(DEPDC5):c.4303dup (p.Leu1435fs)
NM_001242896.3(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242896.3(DEPDC5):c.4357dup (p.Ser1453fs) rs2149397818
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.3(DEPDC5):c.4398G>A (p.Trp1466Ter) rs2149419668
NM_001242896.3(DEPDC5):c.4402C>T (p.Arg1468Ter) rs1016477183
NM_001242896.3(DEPDC5):c.4420G>T (p.Glu1474Ter)
NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs) rs1603014297
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_001242896.3(DEPDC5):c.4501_4502dup (p.Gln1501fs) rs1569254004
NM_001242896.3(DEPDC5):c.4508_4511dup (p.Val1505fs)
NM_001242896.3(DEPDC5):c.4519+1G>A rs1555942720
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs) rs2093755806
NM_001242896.3(DEPDC5):c.4544_4545del (p.Tyr1515fs)
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4570C>T (p.Gln1524Ter)
NM_001242896.3(DEPDC5):c.4630del (p.Val1544fs) rs1569255443
NM_001242896.3(DEPDC5):c.4638del (p.Gly1545_Tyr1546insTer)
NM_001242896.3(DEPDC5):c.4650C>G (p.Tyr1550Ter) rs2093758918
NM_001242896.3(DEPDC5):c.4671_4672del (p.Trp1558fs) rs2149449522
NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter) rs2149449539
NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer) rs2149449670
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del) rs587776974
NM_001242896.3(DEPDC5):c.492dup (p.Arg165fs)
NM_001242896.3(DEPDC5):c.522_525del (p.Ile175fs)
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.3(DEPDC5):c.546G>A (p.Trp182Ter)
NM_001242896.3(DEPDC5):c.562+1G>A rs1057524233
NM_001242896.3(DEPDC5):c.624+1G>A rs886039252
NM_001242896.3(DEPDC5):c.674dup (p.Tyr226fs)
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter) rs2085727988
NM_001242896.3(DEPDC5):c.678T>G (p.Tyr226Ter)
NM_001242896.3(DEPDC5):c.697G>T (p.Glu233Ter)
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.722C>G (p.Ser241Ter)
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.3(DEPDC5):c.765C>G (p.Tyr255Ter)
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.784G>T (p.Glu262Ter)
NM_001242896.3(DEPDC5):c.788_789del (p.Arg263fs) rs1569523728
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.800G>A (p.Trp267Ter) rs2148574616
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs) rs2086398901
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter) rs770620001
NM_001242896.3(DEPDC5):c.862del (p.Glu288fs) rs2148575334
NM_001242896.3(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242896.3(DEPDC5):c.883C>T (p.Gln295Ter) rs2148587476
NM_001242896.3(DEPDC5):c.907del (p.Gln303fs)
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242896.3(DEPDC5):c.991C>T (p.Gln331Ter)
NM_001271.4(CHD2):c.149G>A (p.Gly50Asp) rs1555437424
NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val) rs1555445693
NM_001320643.3(LOC102724428):c.379C>T (p.Arg127Trp) rs1555841977
NM_001350451.2(RBFOX3):c.1002C>A (p.Tyr334Ter) rs972548690
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu) rs1553138299
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met) rs780805483
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp) rs1553154643
NM_003114.5(SPAG1):c.2542del (p.Asp848fs) rs886037653
NM_003114.5(SPAG1):c.679G>T (p.Glu227Ter) rs397518459
NM_004287.5(GOSR2):c.161del (p.Leu54fs) rs2146892080
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) rs2146691974
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
NM_004287.5(GOSR2):c.210del (p.Asp71fs) rs2146911959
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
NM_004287.5(GOSR2):c.262del (p.Gln88fs) rs776869841
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter) rs201616211
NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del) rs863223401
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) rs1466441723
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) rs1330994397
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) rs1554626549
NM_005045.4(RELN):c.1475del (p.Asn492fs)
NM_005045.4(RELN):c.2075del (p.Asp692fs)
NM_005045.4(RELN):c.2086dup (p.Ser696fs) rs1832583187
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2364del (p.Asp789fs) rs2117348851
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
NM_005045.4(RELN):c.3215del (p.Asp1072fs) rs1831725857
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) rs2117255208
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) rs2117248586
NM_005045.4(RELN):c.4190del (p.Asn1397fs) rs2117208388
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) rs2117205170
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) rs2117204949
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) rs2117189408
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) rs2117188195
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp) rs369993428
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) rs1830401647
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
NM_005045.4(RELN):c.6474del (p.Cys2159fs) rs2117139699
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) rs1829533362
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005076.5(CNTN2):c.1180C>T (p.Gln394Ter) rs2151192841
NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter)
NM_005076.5(CNTN2):c.1327dup (p.Arg443fs)
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter) rs114903768
NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter)
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter) rs867618155
NM_005076.5(CNTN2):c.2067_2068del (p.Ile690fs)
NM_005076.5(CNTN2):c.2081_2099del (p.Gly694fs)
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter)
NM_005076.5(CNTN2):c.2587C>T (p.Arg863Ter) rs531184069
NM_005076.5(CNTN2):c.2697dup (p.Ser900fs) rs2151200083
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter) rs768608238
NM_005076.5(CNTN2):c.2773del (p.Ser925fs) rs2151200415
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_005076.5(CNTN2):c.504del (p.Trp168fs) rs398122387
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) rs537026414
NM_005076.5(CNTN2):c.766C>T (p.Gln256Ter)
NM_005076.5(CNTN2):c.851G>A (p.Trp284Ter)
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) rs869025201
NM_005097.4(LGI1):c.108del (p.Lys36fs) rs2133975489
NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)
NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter) rs2134026513
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
NM_005097.4(LGI1):c.1252C>T (p.Gln418Ter) rs2134026684
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1396C>T (p.Gln466Ter)
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) rs1554907835
NM_005097.4(LGI1):c.1442del (p.Pro481fs) rs2134026964
NM_005097.4(LGI1):c.1465del (p.Tyr489fs) rs1589776148
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter) rs2134027169
NM_005097.4(LGI1):c.360-3C>A rs1589762127
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.416del (p.Lys139fs)
NM_005097.4(LGI1):c.431+1G>A rs2134001459
NM_005097.4(LGI1):c.443dup (p.Asn148fs) rs2134017940
NM_005097.4(LGI1):c.446_449del (p.Asn149fs) rs2134017952
NM_005097.4(LGI1):c.598del (p.Cys200fs)
NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)
NM_005097.4(LGI1):c.611del (p.Pro204fs)
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.795G>A (p.Trp265Ter) rs2134021516
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) rs780638384
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
NM_005506.4(SCARB2):c.1114-2A>C rs727502781
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs) rs1178344132
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
NM_005506.4(SCARB2):c.134del (p.Asn45fs) rs1578733075
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs) rs2109944333
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.850del (p.Tyr284fs) rs2109942038
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
NM_005506.4(SCARB2):c.956del (p.Leu319fs) rs1732195544
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) rs1170939620
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) rs796052424
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter) rs750988816
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005670.4(EPM2A):c.301+2T>C
NM_005670.4(EPM2A):c.302-2A>G rs780648601
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) rs1554263366
NM_005670.4(EPM2A):c.322del (p.Arg108fs) rs2128614455
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) rs1780901751
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) rs1554263320
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) rs1776817138
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs) rs1775923311
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) rs201053542
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) rs137852917
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del) rs2128649765
NM_005670.4(EPM2A):c.934dup (p.Arg312fs) rs2128555980
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
NM_006516.4(SLC2A1):c.1010A>T (p.His337Leu) rs1553155982
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro) rs886037965
NM_006545.5(NPRL2):c.68_69del (p.Ile23fs) rs886037966
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter) rs886037964
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro) rs2105890565
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) rs1554770659
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_015192.4(PLCB1):c.3382C>T (p.His1128Tyr) rs1555790846
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) rs974157467
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn) rs1481122214
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_020822.3(KCNT1):c.2771C>T (p.Pro924Leu)
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>G (p.Arg933Gly) rs150395210
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2801C>T (p.Ala934Val)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.2943+1G>C rs1833833144
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) rs1831067002
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter) rs561672108
NM_021267.5(CERS1):c.549C>G (p.His183Gln) rs200024180
NM_022765.4(MICAL1):c.-43-1G>A rs2115340270
NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs) rs1977106116
NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs) rs1977105425
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr) rs797045143
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153033.5(KCTD7):c.130dup (p.Leu44fs)
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter) rs2116755694
NM_153033.5(KCTD7):c.205C>G (p.Leu69Val) rs2116763829
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter) rs267607199
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met) rs387907263
NM_153033.5(KCTD7):c.331del (p.Leu111fs) rs1786631768
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs) rs2116773782
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr) rs387907262
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter) rs1207922864
NM_153033.5(KCTD7):c.594del (p.Ile199fs) rs727502785
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_153033.5(KCTD7):c.696del (p.Phe232fs) rs2116775509
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile) rs387907261
NM_178013.4(PRIMA1):c.270G>A (p.Trp90Ter) rs2141161066
NM_178013.4(PRIMA1):c.80G>A (p.Trp27Ter)
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) rs78324544
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) rs1783750860
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs) rs1217276014
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
NM_198586.3(NHLRC1):c.583del (p.Asp195fs) rs2150703022
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.612del (p.Phe204fs) rs1171412241
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs) rs2150702964
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.3(NHLRC1):c.799del (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer) rs1193841505
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg) rs1554098235
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4

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