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
|
|
|