NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
0.00010
|
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
|
rs387906881
|
0.00009
|
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn)
|
rs755440336
|
0.00006
|
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)
|
rs190706099
|
0.00006
|
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln)
|
rs774195502
|
0.00005
|
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_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly)
|
rs137853333
|
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_005097.4(LGI1):c.406C>T (p.Arg136Trp)
|
rs119488099
|
0.00001
|
NM_005506.4(SCARB2):c.1187+2dup
|
rs727502783
|
0.00001
|
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)
|
rs121909118
|
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_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]
|
|
|
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]
|
|
|
NC_000010.11:g.(93704377_?)_(?_93785620)del
|
|
|
NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]
|
|
|
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_001077350.3(NPRL3):c.1070del (p.Pro357fs)
|
rs886037962
|
|
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC
|
rs886037959
|
|
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)
|
rs886037960
|
|
NM_001077350.3(NPRL3):c.349del (p.Glu117fs)
|
rs1900088045
|
|
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs)
|
rs886037958
|
|
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu)
|
rs863225286
|
|
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.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_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1123-2A>G
|
rs397518469
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)
|
rs397518468
|
|
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg)
|
rs397518450
|
|
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)
|
rs397518447
|
|
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.2041C>T (p.Arg681Ter)
|
rs397518472
|
|
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter)
|
rs397518467
|
|
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)
|
rs397518466
|
|
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)
|
rs387906637
|
|
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys)
|
rs1554966197
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs)
|
rs879255234
|
|
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter)
|
rs587777458
|
|
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter)
|
rs587776975
|
|
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter)
|
rs786205703
|
|
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
|
|
|
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del)
|
rs587776974
|
|
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)
|
rs587776976
|
|
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter)
|
rs886039253
|
|
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)
|
rs886039255
|
|
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)
|
rs587776977
|
|
NM_003114.5(SPAG1):c.2542del (p.Asp848fs)
|
rs886037653
|
|
NM_003114.5(SPAG1):c.679G>T (p.Glu227Ter)
|
rs397518459
|
|
NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del)
|
rs863223401
|
|
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)
|
rs794727998
|
|
NM_005045.4(RELN):c.2392C>A (p.His798Asn)
|
rs794727996
|
|
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)
|
rs794727997
|
|
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)
|
rs794727999
|
|
NM_005076.5(CNTN2):c.504del (p.Trp168fs)
|
rs398122387
|
|
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala)
|
rs28937874
|
|
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)
|
rs104894166
|
|
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter)
|
rs797044998
|
|
NM_005097.4(LGI1):c.360-3C>A
|
rs1589762127
|
|
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys)
|
rs119488100
|
|
NM_005097.4(LGI1):c.431+1G>A
|
rs2134001459
|
|
NM_005097.4(LGI1):c.611del (p.Pro204fs)
|
|
|
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro)
|
rs104894167
|
|
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys)
|
rs28939075
|
|
NM_005506.4(SCARB2):c.1114-2A>C
|
rs727502781
|
|
NM_005506.4(SCARB2):c.1239+1G>T
|
rs727502772
|
|
NM_005506.4(SCARB2):c.1258del (p.Glu420fs)
|
rs727502782
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter)
|
rs121909119
|
|
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)
|
rs587776553
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)
|
rs587776554
|
|
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_006922.3(SCN3A):c.742T>C (p.Ser248Pro)
|
rs2105890565
|
|
NM_015973.5(GAL):c.116C>A (p.Ala39Glu)
|
rs1057517661
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)
|
rs397515406
|
|
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)
|
rs797044544
|
|
NM_021267.5(CERS1):c.549C>G (p.His183Gln)
|
rs200024180
|
|
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.295C>T (p.Arg99Ter)
|
rs267607199
|
|
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met)
|
rs387907263
|
|
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr)
|
rs387907262
|
|
NM_153033.5(KCTD7):c.594del (p.Ile199fs)
|
rs727502785
|
|
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile)
|
rs387907261
|
|
SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4
|
|
|